Short report: SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

Abstract

Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous nonsense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.

We provide new evidence of steroidogenic factor 1 (encoded by SF1/NR5A1) in spleen development, describing a novel heterozygous nonsense NR5A1 mutation (c.1227C > A; p.Tyr409*) in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia. We then recommend that any NR5A1 mutated patient be explored for spleen anatomy and function (ultrasound examination of the spleen and search for Howell-Jolly bodies in blood).

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Maternal uniparental disomy of chromosome 16 (upd(16)mat): Clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

Abstract

Maternal uniparental disomy of chromosome 16 (upd(16)mat) as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate between features resulting from upd(16)mat and mosaic trisomy 16. By evaluating literature data (n = 74) and three own cases we aimed to determine whether the clinical features are due to upd(16)mat or to trisomy 16 mosaicism. Whereas in single cases the clinical symptoms were caused by homozygosity of autosomal recessive mutations on chromosome 16, it turned out that clinical features in upd(16)mat are caused by (hidden) trisomy 16 mosaicism and a specific chromosome 16 associated imprinting disorder does not exist. In upd(16)mat/trisomy 16 pregnancies, the management should be based on the ultrasound results and on the clinical course of the pregnancy. In fact, mosaic trisomy 16 pregnancies require a close monitoring because of the higher risk for hypertensive disorders. Postnatal testing for upd(16)mat should be considered in case of homozygosity for an autosomal-recessive mutation, in individuals carrying chromosome 16 aberrations and in phenotypes comprising features of the trisomy 16/upd(16)mat spectrum. Finally, upd(16)mat probably represents a bioindicator for a hidden trisomy 16 mosaicism.

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The Withers Archive: Online Availability of H. Rodney Withers' Data

Radiation Research, Volume 186, Issue 6, Page 659-661, December 2016.


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Modeling Heavy-Ion Impairment of Hippocampal Neurogenesis after Acute and Fractionated Irradiation

Radiation Research, Volume 186, Issue 6, Page 624-637, December 2016.


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Environmentally Relevant Chronic Low-Dose Tritium and Gamma Exposures do not Increase Somatic Intrachromosomal Recombination in pKZ1 Mouse Spleen

Radiation Research, Volume 186, Issue 6, Page 539-548, December 2016.


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Short-Term Effects of Low-LET Radiation on the Endothelial Barrier: Uncoupling of PECAM-1 and the Production of Endothelial Microparticles

Radiation Research, Volume 186, Issue 6, Page 602-613, December 2016.


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Neurogenic Effects of Low-Dose Whole-Body HZE (Fe) Ion and Gamma Irradiation

Radiation Research, Volume 186, Issue 6, Page 614-623, December 2016.


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Interaction between Radioadaptive Response and Radiation-Induced Bystander Effect in Caenorhabditis elegans: A Unique Role of the DNA Damage Checkpoint

Radiation Research, Volume 186, Issue 6, Page 662-668, December 2016.


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Mixed Beam Murine Harderian Gland Tumorigenesis: Predicted Dose-Effect Relationships if neither Synergism nor Antagonism Occurs

Radiation Research, Volume 186, Issue 6, Page 577-591, December 2016.


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The Influence of the CTIP Polymorphism, Q418P, on Homologous Recombination and Predisposition to Radiation-Induced Tumorigenesis (mainly rAML) in Mice

Radiation Research, Volume 186, Issue 6, Page 638-649, December 2016.


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Evaluation of On- and Off-Line Bioluminescence Tomography System for Focal Irradiation Guidance

Radiation Research, Volume 186, Issue 6, Page 592-601, December 2016.


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Genome-Wide Deletion Screening with the Array CGH Method in Mouse Offspring Derived from Irradiated Spermatogonia Indicates that Mutagenic Responses are Highly Variable among Genes

Radiation Research, Volume 186, Issue 6, Page 568-576, December 2016.


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Radiation-Induced Chemical Reactions in Hydrogel of Hydroxypropyl Cellulose (HPC): A Pulse Radiolysis Study

Radiation Research, Volume 186, Issue 6, Page 650-658, December 2016.


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Impairment of the Intrinsic Capability of Th1 Polarization in Irradiated Mice: A Close Look at the Imbalanced Th1/Th2 Response after Irradiation

Radiation Research, Volume 186, Issue 6, Page 559-567, December 2016.


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Distinct Sets of lncRNAs are Differentially Modulated after Exposure to High and Low Doses of X Rays

Radiation Research, Volume 186, Issue 6, Page 549-558, December 2016.


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A Genome Wide Association Study of Fast Beta EEG in Families of European Ancestry

Publication date: Available online 28 December 2016
Source:International Journal of Psychophysiology
Author(s): Jacquelyn L. Meyers, Jian Zhang, Niklas Manz, Madhavi Rangaswamy, Chella Kamarajan, Leah Wetherill, David B. Chorlian, Sun J. Kang, Lance Bauer, Victor Hesselbrock, John Kramer, Samuel Kuperman, John I. Nurnberger, Jay Tischfield, Jen Chyong Wang, Howard J. Edenberg, Alison Goate, Tatiana Foroud, Bernice Porjesz
BackgroundDifferences in fast beta (20-28 Hz) electroencephalogram (EEG) oscillatory activity distinguish some individuals with psychiatric and substance use disorders, suggesting that it may be a useful endophenotype for studying the genetics of disorders characterized by neural hyper-excitability. Despite the high heritability estimates provided by twin and family studies, there have been relatively few genetic studies of beta EEG, and to date only one genetic association finding has replicated (i.e., GABRA2).MethodIn a sample of 1,564 individuals from 117 families of European Ancestry (EA) drawn from the Collaborative Study on the Genetics of Alcoholism (COGA), we performed a Genome-Wide Association Study (GWAS) on resting-state fronto-central fast beta EEG power, adjusting regression models for family relatedness, age, sex, and ancestry. To further characterize genetic findings, we examined the functional and behavioral significance of GWAS findings.ResultsThree intronic variants located within DSE (dermatan sulfate epimerase) on 6q22 were associated with fast beta EEG at a genome wide significant level (p<5x10^-8). The most significant SNP was rs2252790 (p<2.6x10^-8; MAF= 0.36; β= 0.135). rs2252790 is an eQTL for ROS1 expressed most robustly in the temporal cortex (p= 1.2x10^-6) and for DSE/TSPYL4 expressed most robustly in the hippocampus (p=7.3x10^-4; β= 0.29). Previous studies have indicated that DSE is involved in a network of genes integral to membrane organization; gene-based tests indicated that several variants within this network (i.e., DSE, ZEB2, RND3, MCTP1, and CTBP2) were also associated with beta EEG (empirical p<0.05), and of these genes, ZEB2 and CTBP2 were associated with DSM-V Alcohol Use Disorder (AUD; empirical p<0.05).DiscussionIn this sample of EA families enriched for AUDs, fast beta EEG is associated with variants within DSE on 6q22; the most significant SNP influences the mRNA expression of DSE and ROS1 in hippocampus and temporal cortex, brain regions important for beta EEG activity. Gene-based tests suggest evidence of association with related genes, ZEB2, RND3, MCTP1, CTBP2, and beta EEG. Converging data from GWAS, gene expression, and gene-networks presented in this study provide support for the role of genetic variants within DSE and related genes in neural hyperexcitability, and has highlighted two potential candidate genes for AUD and/or related neurological conditions: ZEB2 and CTBP2. However, results must be replicated in large, independent samples.



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Tracking motor units longitudinally across experimental sessions with high-density surface electromyography

Abstract

A new method is proposed for tracking individual motor units (MUs) across multiple experimental sessions on different days. The technique is based on a novel decomposition approach for high-density surface electromyography and was tested with two experimental studies for reliability and sensitivity. Experiment I (reliability): ten participants performed isometric knee extensions at 10, 30, 50 and 70% of their maximum voluntary contraction (MVC) force in three sessions, each separated by 1 week. Experiment II (sensitivity): seven participants performed 2 weeks of endurance training (cycling) and were tested pre–post intervention during isometric knee extensions at 10 and 30% MVC. The reliability (Experiment I) and sensitivity (Experiment II) of the measured MU properties were compared for the MUs tracked across sessions, with respect to all MUs identified in each session. In Experiment I, on average 38.3% and 40.1% of the identified MUs could be tracked across two sessions (1 and 2 weeks apart), for the vastus medialis and vastus lateralis, respectively. Moreover, the properties of the tracked MUs were more reliable across sessions than those of the full set of identified MUs (intra-class correlation coefficients ranged between 0.63—0.99 and 0.39–0.95, respectively). In Experiment II, ∼40% of the MUs could be tracked before and after the training intervention and training-induced changes in MU conduction velocity had an effect size of 2.1 (tracked MUs) and 1.5 (group of all identified motor units). These results show the possibility of monitoring MU properties longitudinally to document the effect of interventions or the progression of neuromuscular disorders.

This article is protected by copyright. All rights reserved

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Prevalence and socio-demographic correlates of physical activity levels among South African adults in Cape Town and Mount Frere communities in 2008-2009

Background: Physical activity has been linked to reduced risk of various cardiometabolic disease, cancer, and premature mortality. We investigated the prevalence and socio-demographic correlates of physical activity among adults in urban and rural communities in South Africa. Methods: This was a cross-sectional survey comprising 1733 adults aged ≥35 years from the Cape Town (urban) and Mount Frere (rural) sites of the Prospective Urban Rural Epidemiology study. Physical activity was assessed using the validated International Physical Activity Questionnaire. Multinomial logistic regressions were used to relate physical activity with socio-demographic characteristics. Results: Overall, 74% of participants engaged in moderate-to-vigorous physical activity. In the adjusted regression models, women were 34% less likely to engage in vigorous physical activity (OR =0.66, 95%-CI = 0.47-0.93). Physical activity decreased with age, varied with marital status, education and occupation, always in differential ways between urban and rural participants (all interactions p ≤ 0.047). For instance, in urban settings, those with secondary education were more likely to engage in moderate physical activity (OR = 2.06, 95%-CI = 1.08-3.92) than those with tertiary education. Single people were more likely to engage in high physical activity (OR = 2.10, 95%-CI = 1.03-4.28) than divorced. Overall, skilled participants were more likely to engage in vigorous physical activity (OR = 2.07, 95%-CI = 1.41-3.05) driven by significant effect in rural area (OR = 2.70, 95%-CI = 1.51-4.83). Urban participants were more likely to engage in moderate physical activity (OR = 1.67, 95%-CI = 1.31-2.13) than rural participants. Conclusions: To prevent chronic diseases among South Africans, attention should be paid to specific policies and interventions aimed at promoting PA among young adults in rural and urban setting, and across the social-economic diversity.

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Outcome after protected full weightbearing treatment in an orthopedic device in diabetic neuropathic arthropathy (Charcot arthropathy): a comparison of unilaterally and bilaterally affected patients

Background: Charcot neuropathic arthropathy (CN) is a chronic, progressive, destructive, non-infectious process that most frequently affects the bone architecture of the foot in patients with sensory neuropathy. We evaluated the outcome of protected weightbearing treatment of CN in unilaterally and bilaterally affected patients and secondarily compared outcomes in protected versus unprotected weightbearing treatment. Methods: Patient records and radiographs from 2002 to 2012 were retrospectively analyzed. Patients with Type 1 or Type 2 diabetes with peripheral neuropathy were included. Exclusion criteria included immunosuppressive or osteoactive medication and the presence of bone tumors. Ninety patients (101 ft), mean age 60.7 ± 10.6 years at first diagnosis of CN, were identified. Protected weightbearing treatment was achieved by total contact cast or custom-made orthosis. Ulcer, infection, CN recurrence, and amputation rates were recorded. Mean follow-up was 48 (range 1–208) months. Results: Per the Eichenholtz classification, 9 ft were prodromal, 61 in stage 1 (development), 21 in stage 2 (coalescence) and 10 in stage 3 (reconstruction). Duration of protected weightbearing was 20 ± 21 weeks and 22 ± 29 weeks in patients with unilateral and bilateral CN, respectively. In bilaterally affected patients, new ulcers developed in 9/22 (41%) feet. In unilaterally affected patients, new ulcers developed in 5/66 (8%) protected weightbearing feet and 4/13 (31%) unprotected, full weightbearing feet (p = 0.036). The ulceration rate was significantly higher in bilaterally versus unilaterally affected patients with a protected weightbearing regimen (p = 0.004). Soft tissue infection occurred in 1/13 (8%) unprotected weightbearing feet and 1/66 (2%) protected weightbearing feet in unilaterally affected patients, and in 1/22 (4%) protected weightbearing feet of bilaterally affected patients. Recurrence and amputation rates were similar across treatment modalities. Conclusions: Bilateral CN results in significantly more ulcers than unilateral CN and leads to slightly higher soft tissue infections. Protected weightbearing in an orthopedic device can reduce the risk for complications in acute CN of the foot and ankle.

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Gastrointestinal Bleeding Due to Gastrointestinal Tract Malignancy: Natural History, Management, and Outcomes

Abstract

Background

Gastrointestinal (GI) tumor bleeding can vary from occult bleeding to massive hemorrhage and can be the presenting sign of malignancy.

Aims

Our primary aims were to: (1) characterize the natural history, treatment, and outcomes in patients with GI tumor bleeding and (2) compare and contrast bleeding in upper GI (UGI)/small bowel (SB) and lower GI malignancies.

Methods

Patients with endoscopically confirmed tumor bleeding were identified through search of consecutive electronic medical records: Bleeding was determined by the presence of melena, hematochezia, hematemesis, or fecal occult blood. Comprehensive clinical and management data were abstracted.

Results

A total of 354 patients with GI tumors were identified: 71 had tumor bleeding (42 UGI/SB and 29 colonic). GI bleeding was the initial presenting symptom of malignancy in 55/71 (77%) of patients; 26/71 patients had widely metastatic disease at presentation. Further, 15 of 26 patients with metastatic disease presented with GI bleeding. Visible bleeding was present in 14/42 (33%) and 4/29 (14%) of UGI/SB and colonic tumors, respectively. Endoscopic hemostasis was attempted in 10 patients, and although initial control was successful in all, bleeding recurred in all of these patients. The most common endoscopic lesion was clean-based tumor ulceration. Overall mortality at 1 year was 57% for esophageal/gastric, 14% for SB, and 33% for colonic tumors.

Conclusions

When patients with GI malignancy present with GI bleeding, it is often the index symptom. Initial endoscopic hemostasis is often successful, but rebleeding is typical. Esophageal and gastric tumors carry the poorest prognosis, with a high 1-year mortality rate.

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ChemEngine: harvesting 3D chemical structures of supplementary data from PDF files

Digital access to chemical journals resulted in a vast array of molecular information that is now available in the supplementary material files in PDF format. However, extracting this molecular information, generally from a PDF document format is a daunting task. Here we present an approach to harvest 3D molecular data from the supporting information of scientific research articles that are normally available from publisher's resources. In order to demonstrate the feasibility of extracting truly computable molecules from PDF file formats in a fast and efficient manner, we have developed a Java based application, namely ChemEngine. This program recognizes textual patterns from the supplementary data and generates standard molecular structure data (bond matrix, atomic coordinates) that can be subjected to a multitude of computational processes automatically. The methodology has been demonstrated via several case studies on different formats of coordinates data stored in supplementary information files, wherein ChemEngine selectively harvested the atomic coordinates and interpreted them as molecules with high accuracy. The reusability of extracted molecular coordinate data was demonstrated by computing Single Point Energies that were in close agreement with the original computed data provided with the articles. It is envisaged that the methodology will enable large scale conversion of molecular information from supplementary files available in the PDF format into a collection of ready- to- compute molecular data to create an automated workflow for advanced computational processes. Software along with source codes and instructions available at http://ift.tt/2islzYp abstract.

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Inelastic strain rate in the seismogenic layer of Kyushu Island, Japan

Seismic activity is associated with crustal stress relaxation, creating inelastic strain in a medium due to faulting. Inelastic strain affects the stress field around a weak body and causes stress concentration around the body, because the body itself has already released stress. Therefore, the understanding of inelastic deformation is important as it generates earthquakes. We investigated average inelastic strain in a spatial bin of Kyushu Island, Japan, and obtained the inelastic strain rate distribution associated with crustal earthquakes, based on the analysis of fault plane solutions and seismic moments. Large inelastic strains (>10 −7  year −1 ) were found in the Beppu–Shimabara area, located in the center of Kyushu Island. The strain rate tensor was similar to that of the stress tensor except the absolute value in the area, implying that the inelastic strain was controlled by the stress field. The 2016 Kumamoto earthquake sequence (maximum magnitude 7.3) occurred in the Beppu–Shimabara area, with the major earthquakes located around the high inelastic strain rate area. Inelastic strain in the volume released the stress. In addition, the inelastic strain created an increment of stress around the volume. This indicates that the spatial heterogeneity of inelastic strain might concentrate stress.Graphical abstractInelastic strain rate in the seismogenic layer of Kyushu Island, Japan.

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An adaptive random compressive partial sampling method with TV recovery

Different from standard sampling strategy in compressive sensing (CS), we present a compressive partial sampling framework called adaptive-random sampling and recovery (ASR) for image. It could faithfully recover images by hybridizing random samples with edge-extracted pixels with much lower sampling rate. The new framework preserves edge pixels containing essential information of images, and meanwhile employs the edge-preserving total variation (TV) regularizer. Assisted with the edges, three steps are adopted to recover the high-quality image. First, we extract the edges of a coarse image recovered with completely random measurements in our sampling framework. Then, the TV algorithm in the CS theory is employed for solving the Lagrangian regularization problem. Finally, we refine the coarse image to obtain a high-quality one with both the extracted edges and previous random measurements. Experimental results show that the novel ASR strategy achieves significant performance improvements over the current state-of-the-art schemes.

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Degradation study of lindane by novel strains Kocuria sp. DAB-1Y and Staphylococcus sp. DAB-1W

Background: This study was carried out to isolate and characterize the bacterial strains from lindane-contaminated soil and they were also assessed for their lindane-degrading potential. Methods: In this study the enrichment culture method was used for isolation of  lindane degrading bacterial isolates, in which the mineral salt medium (MSM) supplemented with different concentrations of lindane was used. Further, the screening for the potential lindane degrading isolates was done using the spray plate method and colorimetric dechlorinase enzyme assay. The selected isolates were also studied for their growth response under varying range of temperature, pH, and NaCl. The finally selected isolates DAB-1Y and DAB-1W showing best lindane degradation activity was further subjected to biochemical characterization, microscopy, degradation/kinetic study, and 16S rDNA sequencing. The strain identification were performed using the biochemical characterization, microscopy and the species identifies by 16S rDNA sequence of the two isolates using the standard 16S primers, the 16 S rRNA partial sequence was analyzed through BLAST analysis and phylogenetic tree was generated based on UGPMA clustering method using MEGA7 software. This shows the phylogenetic relationship with the related strains. The two isolates of this study were finally characterized as Kocuria sp. DAB-1Y and Staphylococcus sp. DAB-1W, and their 16S rRNA sequence was submitted to GenBank database with accession numbers, KJ811539 and KX986577, respectively. Results: Out of the 20 isolates, the isolates DAB-1Y and DAB-1W exhibited best lindane-degrading activity of 94 and 98%, respectively, recorded after 8 days of incubation. The optimum growth was observed at temperature 30 °C, pH 7, and 5% NaCl observed for both isolates. Of the four isomers of hexachlorocyclohexane, isomer α and γ were the fastest degrading isomers, which were degraded up to 86 and 94% by isolates DAB-1Y and up to 93 and 98% by DAB-1W, respectively, reported after 8 days incubation. Isomer β was highly recalcitrant in which maximum 35 and 32% lindane degradation was observed even after 28 days incubation by isolates, DAB-1Y and DAB-1W, respectively. At lower lindane concentrations (1–10 mg/L), specific growth rate increased with increase in lindane concentration, maximum being 0.008 and 0.006/day for DAB-1Y and DAB-1W, respectively. The 16 S rRNA partial sequence of isolate DAB-1Y showed similarity with Kocuria sp. by BLAST analysis and was named as Kocuria sp. DAB-1Y and DAB-IW with Staphylococcus sp. DAB-1W. The 16S rDNA sequence of isolate DAB-1Y and DAB-1W was submitted to online at National Centre of Biotechnology Information (NCBI) with GenBank accession numbers, KJ811539 and KX986577, respectively. Conclusions: This study has demonstrated that Kocuria sp. DAB-1Y and Staphylococcus sp. DAB-1W were found efficient in bioremediation of gamma-HCH and can be utilized further for biodegradation of environmental contamination of lindane and can be utilized in bioremediation program.

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In memoriam: Robert (Bob) Francis Leslie Logan (1917-2016)

2016-12-28T17-57-25Z
Source: Materia Socio Medica
Izet Masic.



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Open, Randomized Clinical Trial on Using Nifuroxazide Compared to Probiotics in Treating Acute Diarrhoeas in Adults

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Begler Begovic, Sead Ahmetagic, Lejla Calkic, Midhat Vehabovic, Sanela Bakic Kovacevic, Tarik Catic, Meliha Mehic.
Introduction: In open, prospective observational study, the efficacy and safety of nifuroxazide were compared with a probiotic containing lactic acid bacteria in the treatment of acute diarrhoea. Material and Methods: A total number of 169 adult patients were included in this study, who administered nifuroxazide in the dose of 200 mg/4 times a day, while they took preparation containing lactic acid bacteria (1,2 x 107 live lyophilised lactic-acid bacteria) three times a day for three days. Results: Mean time to last unformed stool (TLUS) in a group which was treated with nifuroxazide was two days, while it took five days for the stool normalization in the group using probiotic (p=0.0001). Orally administered nifuroxazide has demonstrated better efficiency as compared to probiotic in treating acute diarrhoea, and both medicines have shown the same safety and tolerance in this study.


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Socio-demographic Characteristics of Patients with Diagnosis of Leukemia in Bosnia and Herzegovina During Six-year Period

2016-12-28T17-57-25Z
Source: Materia Socio Medica
Edo Hasanbegovic, Nedim Begic, Snijezana Hasanbegovic, Zijo Begic.
Introduction: Malignancies in children are second most frequent cause of death after accidents in pediatric age, while leukemias represents 30% of all malignancies of children age. Aim: To present the social and demographic characteristics of patients with a diagnosis of leukemia in Bosnia and Herzegovina during six years period. Patients and Methods: The study included 97 patients (from birth to 18 years old) with diagnosis of acute leukemia. Results: During the aforementioned period at the Pediatric Clinic of University Clinical Centre Sarajevo, 244 patients with the diagnosis of malignancy were treated (99 children were with leukemia (40.6%). Acute leukemias were diagnosed in 97 patients and chronic in 2 patients. Out of 97 treated patients with acute leukemia, they almost of all cantons of Federation of Bosnia and Herzegovina, Brcko District and the Republic Srpska. Patients were usually coming from the Tuzla Canton Federation of Bosnia and Herzegovina (28 patients). Based on the cytomorphological diagnosis of patients according to the FAB classification, the most was a present ALL-L1 type of acute leukemias. Mortality of patients with ALL was 15,3%, while mortality of patient with AML was 36,8%. Conclusion: In Bosnia and Herzegovina, during six year period, the largest number of patients with leukaemia came from Tuzla Canton. The most common age of patients was preschool and school ages. Male sex was dominant in patients with diagnosis AML. According to the FAB classification, ALL-L1 type of acute leukemia was the most common.


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Students’ Attitudes Towards Research at Mazandaran University of Medical Sciences in 2015

2016-12-28T17-57-25Z
Source: Materia Socio Medica
Hasan Siamian, Roghayeh Mahmoudi, Fatemeh Habibi, Mahsoomeh Latifi, Vahideh Zare-Gavgani.
Background: In todays world, one of the criteria of progress in a country is research. In our country instead of paying to the research and study, attention is given to the training of human resources. Therefore, this study aimed to investigate Students Attitudes towards Research at Mazandaran University of Medical Sciences in 2015. Methods: In this cross-sectional study the data tool was questionnaire given to the study subjects. The study population were all the paramedical college students at Mazandaran University of Medical Sciences selected. Cochrane methodology was used to determine the sample size, the t test used to know the attitudes and the ANOVA test to assess differences between the groups. Results: The mean age of the students was 20 years (age range of 17 to 32 years), of them, 99 (61%) were female and 63 (39%) male, 100% undergraduate and 73% on their first semester. Their attitudes toward the usefulness of search for jobs and careers, anxiety, relationship with everyday life and Research problem was positive. Belief in research problem with the highest average and relation with everyday life with the lowest average, ranked the highest and lowest scores respectively. The findings also showed that there was insignificant difference between the variables of age, gender and level of education and the attitude of students towards research. Conclusion: The subjects under study had Positive attitude to research and in case of availability of research facilities, students would be more interested in performing research.


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A Cost-benefit Analysis of a Proposed Immigrant Latent Tuberculosis Infection Screening Program for Cyprus

2016-12-28T17-57-25Z
Source: Materia Socio Medica
Savvas Zannetos, Michael A. Talias.
Introduction: The study explored the potential economic benefit of an expanded screening program of immigrants before entrance to Cyprus as a policy to reduce the overall cost of tuberculosis (TB). Thus, the aim of this study is to study whether screening all immigrants coming from countries (including European Union countries) with high incidence of tuberculosis would be in the economic interest of the Republic of Cyprus or not. Methods: In order to assess whether it could be economically beneficial for Cyprus to expand the screening checks for TB to all immigrants coming from high prevalence countries, a Cost-Benefit Analysis (CBA) was employed, and the Net Present Value (NPV) of the project was calculated. In order to assess for uncertainty, sensitivity analysis using different scenarios, was conducted. Results: The analysis has a fifteen year length of implementation period and the base year (Year 0) was 2011. The NPV was estimated at 3,188,653 which is greater than zero; therefore, the expansion of screening diagnostic tests for TB to European citizens coming from countries with high prevalence of TB will have a significant benefit to the Cypriot economy and society. This result is also supported by the fact that all what-if scenarios of the sensitivity analysis yielded a positive NPV. Conclusion: Our study concludes that testing all immigrants, including immigrants from high prevalence European countries that are not currently tested for TB, would be a cost-saving strategy to reduce the cost of treating TB in Cyprus.


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Efficacy and Safety of Oral Spray Containing Lysozyme and Cetylpyridinium: Subjective Determination of Patients with Tonsillopharyngitis

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Tarik Catic, Meliha Mehic, Zahida Binakaj, Bilsena Sahman, Vedina Cordalija, Amra Kerla, Igor Martinovic, Hajra Eskic.
Introduction: Tonsillopharyngitis (sore throat) is a common disease mainly related to the seasonal common cold. To relieve unpleasant symptoms and discomfort of acute tonsillopharyngitis associated with common cold, patients usually take some non-prescription drugs. The aim: The primary aim of this study was to assess subjective determinations of the efficacy and the safety/tolerability of an oral spray comprising a combination of lysozyme chloride and cetylpyridinium chloride in those patients. Material and methods: The study involved 1727 patients with tonsillopharyngitis associated with common cold and treated with the studied drug, in the period from December 2014 through March 2015. Results: In total, 95% of patients rated the studied drug to be well, very well and excellently effective. In 32% of patients, the symptoms were relieved 10 minutes after the application of the spray. Significant correlations were found between the two subjective assessments of the drug efficiency with the total of 74.11% (95% CI: 73.41, 77.47%) of patients who said that the feeling of pain in the throat completely disappeared after the drug administration, evaluated the impact/effect of the drug was very good or good (Pearson Chi Square=391.401, p


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The Impact of Antibiotic Consumption on Development of Acinetobacter Baumannii Resistance

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Djana Granov, Amela Dedeic Ljubovic, Svjetlana Loga Zec, Nermin Granov, Mirsada Hukic.
Aim: The aim of this study was to examine the impact of antibiotic consumption on development of antimicrobial resistance in Acinetobacter baumannii. Material and Methods: The study was conducted in University Clinical Center of Sarajevo. In our retrospective study Acinetobacter baumannii isolated in period from July 1st 2009 to December 31st 2012. Isolates were detected from different clinical samples including urine, wound swab, blood, bronchial aspirate and other samples which were collected from patients situated on various hospital wards. Clinical isolates belonged to one per patient in a given period of time. Results: Antimicrobial resistance was interpreted according to CLSI breakpoints. Consumption of antibiotics was analyzed according to recommendations of the ESAC-Net and current Acinetobacter baumannii classification. Pearsons correlation showed a positive correlation between gentamicin consumption and emerging of resistance (p = 0.023). Conclusion: Increase in the antimicrobial use was followed with an increase in resistance of Acinetobacter baumannii isolates. Monitoring of antibiotic resistance and consumption is of a great importance in order to reduce the emergence and spread of antimicrobial resistant organisms in the health care settings.


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Epidemiologic Investigation of Dysentery in North of Iran: Use of Geographic Information System (GIS)

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Aliasghar Nadi, Ghassem Abedi, Khatoon Isazadeh, Farideh Rostami, Hasan Siamian, Mahbobeh Hosseini, Mehran Asadi-Aliabadi.
Introduction: Dysentery is an intestinal inflammation which is created by the microorganisms attacking intestine mucus. Knowing the prevalence of this disease in different societies paves the way for programming and providing treatment and preventive measures. The main purpose of this study is to investigate the epidemiologic pattern and geographical distribution of dysentery based on GIS. Method: This was a cross-sectional and analytical study. The dysentery cases were gathered from the section of contagious diseases in health chancellery of Mazandaran University of medical sciences through a checklist during the years 2008 to 2013. In order to analyze the data, we made use of chi-square test. Then, the GIS software was used to recognize the geographical distribution of the disease. Findings: There was reported about 653 cases affected by dysentery and the disease proportion was equal for both men and women. Most of the persons with dysentery was city dwellers. The highest rate of incidents was reported to be in Fereidunkenar in 2011, and the disease was mostly found among farmers, students, and college students. Conclusion: Since dysentery is a disease transmitted from water and food, and in this study, it was found out that the disease sources included using polluted water, vegetables, and lack of appropriate personal hygiene. Therefore, it is essential to take into consideration the health issues. Moreover, the suitable conditions of the geographical area which has the highest rate of incident have paved the way for dysentery occurrence. In addition, using geographic information system (GIS) as a visual instrument can help the stakeholders and officials to elaborate on the death trend and recognize the areas for optimal use of the available resources.


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Changes in Professionals’ Attitudes and Approaches to Parents in the Drug and Alcohol Treatment

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Evdokia Missouridou, Despina Esseridou.
Background: Parental involvement with drug and alcohol services remains limited. Aim: to illuminate changes in addiction professionals subjective attitudes and approaches of parents over time in their career. Methods: Overall, twenty seven drug and alcohol professionals participated in the study. Results: Themes depicting changes on therapists attitudes, beliefs and experiences of working with the families of their clients are Redefining therapeutic role and expectations, Increased understanding and acceptance, Finding the right distance in relationships, Ability to contain feelings and experiences, Being selective in collaborations with professionals, Empathy for coworkers and increased collaboration. Therapists described their interaction with families of their clients in their earlier years of practice as a challenging and often overwhelming experience generating intense anger and frustration which sometimes led to acting outs and tempted them to give up their efforts to build an alliance with family members. Nevertheless, experience, clinical supervision and personal growth contributed in being gradually more capable in managing their emotional reactions, setting limits, having less and more realistic expectations from family members and finally providing the latter with the necessary experience of being understood. Conclusions: Overall, addiction therapists feel unprepared for meeting the challenging experience of collaborating with families in their earlier years of practice requiring educational support and clinical supervision. Further research is required on addiction professionals-parents alliance and countertransference issues.


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Oral Health of Down Syndrome Adults in Bosnia and Herzegovina

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Selma Porovic, Amila Zukanovic, Hrvoje Juric, Senka Mesihovic Dinarevic.
Introduction: The objective of this study was to determine the oral health condition Down syndrome (DS) adults in Bosnia and Herzegovina, by analyzing oral health of Down syndrome individuals in two largest regions, Sarajevo and Tuzla Canton. Patients and Methods: Caries and oral health status of 33 Down syndrome adults aged 19-45 years  were examined and assessed according WHO 1997 criteria. Results: The mean DMFT index is 15,96±8,08. The analysis of oral hygiene of Down syndrome children by using the debris index, is found that 42,4% have very good oral hygiene , 21,2% respondents have good oral hygiene, 27,3% are with poor oral hygiene, while the very poor hygiene have 9,1% subjects. The Value of CPI index is 0,82.


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The Effects of a Web Application and Medical Monitoring on the Quality of Medication, Adverse Drug Events and Adherence in the Elderly Living at Home: a Protocol of the Study

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Polona Selic, Eva Cedilnik Gorup, Savin Gorup, Marija Petek Ster, Janez Rifel, Zalika Klemenc Ketis.
Background: In more than half of elderly chronically-ill family clinic attendees, drug prescribing deviates from the internationally acknowledged STOPP/START recommendations. Our study will determine whether it is possible to improve the quality of drug prescriptions in chronically-ill elderly people living at home by regularly monitoring the prescribed drugs according to STOPP/START criteria. Methods: The project started in 2014 and will run until 2017. Forty general practitioners (GPs) are participating in a pragmatic randomized controlled trial. From the patient register, GPs randomly selected 20 patients older than 65 years who regularly receive at least one drug and invited them to participate in the study. We will use the START/STOPP criteria to determine the (in)adequacy of drug prescribing in the elderly by a web application (WA). Expected Results: The use of the WA will be the basis of the implementation of the final version of the application into the regular family medicine practice, thereby reducing the problems of inappropriate prescribing, correct medication, polypharmacy and adherence; we will identify the stability of the factors of drug prescribing in the elderly. By comparing the test and control groups, it will be possible to distinguish which are related to the WA and which act independently.


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Medical Expenses Matter Most for the Poor: Evidence from a Vietnamese Medical Survey

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Quan Hoang Vuong.
Introduction: Less developed countries, Vietnam included, face serious challenges of inefficient diagnosis, inaccessibility to healthcare facilities, and high medical expenses. Information on medical costs, technical and professional capabilities of healthcare providers and service deliveries becomes influential when it comes to patients decision on choices of healthcare providers. Methods: The study employs a data set containing 1,459 observations collected from a survey on Vietnamese patients in late 2015. The standard categorical data analysis is performed to provide statistical results, yielding insights from the empirical data. Results: Patients socioeconomic status (SES) is found to be associated with the degree of significance of key factors (i.e., medical costs, professional capabilities and service deliveries), but medical expenses are the single most important factor that influence a decision by the poor, 2.28 times as critical as the non-poor. In contrary, the non-poor tend to value technical capabilities and services more, with odds ratios being 1.54 and 1.32, respectively. Discussion: There exists a risk for the poor in decision making based on medical expenses solely. The solution may rest with: a) improved health insurance mechanism; and, b) obtaining additional revenues from value-added services, which can help defray the poors financial burdens.


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Predictability of Social-anamnestic Variables on Receptive Vocabulary and Cognitive Functioning of the Elderly Population

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Amela Ibrahimagic, Lejla Junuzovic Zunic, Mirsada Rasidovic, Bojan Radic, Ahmet Kantic.
Introduction: Aging, as an irrepressible biological process involves a series of physiological and pathological changes. The main aim of this study was to examine the correlation and predictability of receptive vocabulary and cognitive functioning of elderly people with anamnestic variables: chronological age, sex, level of formal education, marital status, years of work and retirement and years spent in an institution for the elderly. Material and Methods: The sample of participants consisted of 120 elderly people, average age was 78 years, placed in institutional care for elderly people in four cities in Bosnia and Herzegovina. It was three groups of variables: anamnestic, receptive vocabulary assessment, and cognitive assessments. A Montreal Cognitive Assessment Scale (MoCA) was used for the assessment of cognitive abilities. In order to estimate the receptive vocabulary Peabody Picture Vocabulary Test (PPVT-III-HR) was used. Results: Results of multiple regression analysis show that part of the variance of receptive language which is explained by the model (anamnestic variables) was 44.0% and of cognitive functioning was 33.7%. The biggest single contribution to explaining the development of receptive vocabulary was given by predictor variable of college education (β = 0.417) then variable university education (β = 0.293), while the smallest single contribution was given by variable secondary education (β = 0.167). The biggest single contribution to explaining the results of tests of cognitive function was given by predictor variable College education (β = 0.328) and variable unskilled (β = -0.229), which has a negative effect on the increase in recent cognitive functioning. Conclusion: Anamnestic variables were valid predictors of receptive vocabulary and cognitive functioning of elderly people. The highest individual contribution was given by variables describing the level of formal education of elderly.


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The Influence of Palliative Care on Quality of Life in Patients with Lung Cancer

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Adnan Delibegovic, Osman Sinanovic, Gordan Galic, Adela Sabic, Dzevad Sabic.
Objective: Objective of this work is to determine influence of palliative care on the quality of life in patients with lung cancer. Subjects and Methods: Our study group included 40 patients, consecutively selected, which is determined by symptomatic treatment and hospitalized at the Department of Palliative Care of University Clinical Center Tuzla. The control group consisted of 40 patients who had a diagnosis of lung cancer treated at home by an authorized ambulance Health Center Tuzla. Tests in both groups were carried out using the test SF-36 scale for assessing quality of life in period of two weeks. Two-stage test was performed, initially, immediately after disease was diagnosed, and two weeks later. Results: All life quality parameters (general, physical and emotional) were better in second test, in patients who were situated in the department of palliative care (study group) (p


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Antibiotic Resistance in Urinary Isolates of Escherichia coli

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Amila Abduzaimovic, Mufida Aljicevic, Velma Rebic, Sabina Mahmutovic Vranic, Kadrija Abduzaimovic, Sabina Sestic.
Objectives: The aim of this study was to examine the presence of antimicrobial resistance / susceptibility strains of Escherichia coli in inpatients and outpatients. Materials and methods: It is a retrospective study carried out at the Department of Microbiology, Parasitology and Virology Faculty of Medicine, University of Sarajevo. In cooperation with the Microbiological laboratory of the Cantonal Hospital Zenica and the Microbiological laboratory of the General Hospital Tesanj, 3863 urine samples were processed in the period from March 1st to March 31st 2016. Results: Our study showed that E. coli had the highest antimicrobial resistance to trimethoprim / sulfamethoxazole (38.61%), followed by amoxicillin / clavulanic acid (19.62%), ciprofloxacin (9.49%), gentamicin (8.86%), cephalexin (8.23%), nitrofurantoin (8.23%), cefuroxime (7.52%), ceftazidime (6.33%), cefuroxime (89.87%), amikacin (4.43%). Conclusions: The isolated strains of E. coli showed the highest resistance to trimethoprim / sulfamethoxazole and amoxicillin / clavulanic acid. The isolated strains of E. coli showed the greatest susceptibility to amikacin and ceftazidime. Gender distribution of positive E. coli isolates showed statistically significant differences in favor of females.


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Correlation of the Lipid Profile, BMI and Bone Mineral Density in Postmenopausal Women

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Radojka Bijelic, Jagoda Balaban, Snjezana Milicevic.
Introduction: To the reduction of bone density and osteoporosis in postmenopausal women contribute elevated lipid parameters and Body Mass Index (BMI). Goal: The goal of our study was to determine the correlation between lipid parameters, BMI and osteoporosis in postmenopausal women. Material and methods: The study was carried out by matched type between experimental group and controls. The experimental group consisted of 100 females at postmenopausal age, in which by the DEXA method was diagnosed osteoporosis at the Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Center of RS during 2015-2016, while the control group consisted of 100 females in a postmenopausal age but without diagnosed osteoporosis. The groups were matched by age (± 2 years). To all participants of the study were carried out biochemical analysis of blood, or the analysis of the lipid profile that included total cholesterol, LDL cholesterol, triglycerides (TG) and HDL cholesterol, and was determined the values of BMI and waist circumference (WC). Results: Analysis of the data of our research shows that by the univariate logistic regression the values of lipid parameters total cholesterol (p=0.000), LDL (p=0.005) and TG (p=0.033) were significantly associated with osteoporosis, while in multivariate logistic model only total cholesterol (p= 0.018) was found as an independent risk factor for osteoporosis in postmenopausal women. BMI values were not statistically significantly associated with osteoporosis (p=0.727). Conclusion: On the decrease in bone mineral density and osteoporosis in postmenopausal women influence many risk factors whose identification has the aim to develop more effective prevention of this disease in the elderly.


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Clinical Manifestations in 82 Neurobrucellosis Patients from Kosovo

2016-12-28T17-57-26Z
Source: Materia Socio Medica
Shemsedin Dreshaj, Nexhmedin Shala, Gresa Dreshaj, Naser Ramadani, Albina Ponosheci.
Background: Central nervous system involvement is a serious complication of brucellosis with various incidence and various clinical presentations. Patients and Methods: Hospitalized patients in University Clinical Centre, Clinic for Infectious diseases in Prishtina, with laboratory-confirmed brucellosis, were analyzed, a brucellosis-endemic region. Among the 648 confirmed cases with brucellosis during the period 1991- 2013, 82 patients (12.65%) were diagnosed with neurobrucellosis. The clinical manifestations in patients with neurobrucellosis were evaluated and compared with brucellosis patients. Results: The major presentations among the brucellosis patients were headache, fever, sweating, nausea, weight loss and arthralgia, while from CNS predominant complains were: headache, vomiting, tremor, low back pain, hearing loss and visual disturbance. The mean age of 82 neurobrucellosis patients was 31.46 years with age distribution 12-71 years, from them 5 (6.1%), younger than 16 years, with a non-significant predominance of women (53.65%). The most common neurological findings were radiculopathies of legs (41.46%) neck rigidity (46.34%), agitation (25,6%), behavioral disorders (18.3%), disorientation (19.5%) and stroke (1.22%). Cranial nerves were involved in 20 of 82 patients (24.4%). Neurological consequences were evidenced in 5 (6.1%) patients. Three patients leave hospital with consequences of peripheral facial paresis, two with sensorineural hearing loss and one with left hemiparesis. Headache, nausea and vomiting and weight loss are significantly (p


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Paramedic - Sign on Bonus & Relocation assistance available! - REMSA

If you are currently a nationally registered (NREMT) Paramedic or about to graduate a Paramedic program and would like to work for an exciting fast paced, family oriented company we're looking for you! Many of our Paramedics go on to enhance their careers within our organization as Tactical Medics, Search/Rescue, Instructors, Community Health Paramedics, and Critical Care Flight Medics.

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Transitional cell carcinoma with extension of the renal vein and IVC tumor thrombus: report of three cases and literature review

Background: Transitional cell carcinoma (TCC) originating from the renal pelvis with a venous tumor thrombus is a rare entity. However, clinicians should be aware of it because of its high malignancy and poor prognosis.Case presentationHere, we report three cases of pathologically confirmed TCC originating from the renal pelvis with extension into the renal vein or inferior vena cava (IVC). Of these patients, two are males and one is female (58~73 years old). Their main symptom is flank pain; besides, gross hematuria and weight loss is observed in one of the patients. Computed tomography (CT) scan of the first patient revealed multiple space-occupying lesions in the left renal pelvis and left medium and lower ureter with a tumor thrombus in the left renal vein. CT scan of the second patient revealed a right renal mass and extension into the IVC. Abdominal magnetic resonance imaging (MRI) of the third patient showed a soft tissue mass in the region of the left renal sinus, and the signal of the soft tissue was observed in the left renal vein. The preoperative diagnoses of the first and third patient were TCC, while the second patient was renal cell carcinoma (RCC). Two patients with the preoperative diagnosis of TCC underwent laparoscopic radical nephroureterectomy with thrombectomy, and the other patient underwent radical nephrectomy with thrombectomy. The surgeries were successful. Although two of our patients underwent chemotherapy and radiotherapy, they died 2 and 19 months after the surgery, respectively. The other patient refused any adjuvant therapy and died 3 months after the operation. Conclusions: Compared to the extension of RCC to the renal vein or IVC, extension of TCC to the renal vein or IVC is rare. TCC with a venous tumor thrombus is often misdiagnosed as RCC. However, a correct preoperative or intraoperative diagnosis is of great importance to decide surgical strategy. Laparoscopic radical nephroureterectomy with thrombectomy may be a safe and feasible operative method in treatment of TCC with a renal vein thrombus. The prognosis of such cases is poor even if chemotherapy and radiotherapy are scheduled.

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Effect of cadence on locomotor–respiratory coupling during upper-body exercise

Abstract

Introduction

Asynchronous arm-cranking performed at high cadences elicits greater cardiorespiratory responses compared to low cadences. This has been attributed to increased postural demand and locomotor–respiratory coupling (LRC), and yet, this has not been empirically tested. This study aimed to assess the effects of cadence on cardiorespiratory responses and LRC during upper-body exercise.

Methods

Eight recreationally-active men performed arm-cranking exercise at moderate and severe intensities that were separated by 10 min of rest. At each intensity, participants exercised for 4 min at each of three cadences (50, 70, and 90 rev min⁻¹) in a random order, with 4 min rest-periods applied in-between cadences. Exercise measures included LRC via whole- and half-integer ratios, cardiorespiratory function, perceptions of effort (RPE and dyspnoea), and diaphragm EMG using an oesophageal catheter.

Results

The prevalence of LRC during moderate exercise was highest at 70 vs. 50 rev min⁻¹ (27 ± 10 vs. 13 ± 9%, p = 0.000) and during severe exercise at 90 vs. 50 rev min⁻¹ (24 ± 7 vs. 18 ± 5%, p = 0.034), with a shorter inspiratory time and higher mean inspiratory flow (p < 0.05) at higher cadences. During moderate exercise, \( \dot{V}{\text{O}}_{ 2} \) and f _C were higher at 90 rev min⁻¹ (p < 0.05) relative to 70 and 50 rev min⁻¹ ( \( \dot{V}{\text{O}}_{ 2} \) 1.19 ± 0.25 vs. 1.05 ± 0.21 vs. 0.97 ± 0.24 L min⁻¹; f _C 116 ± 11 vs. 101 ± 13 vs. 101 ± 12 b min⁻¹), with concomitantly elevated dyspnoea. There were no discernible cadence-mediated effects on diaphragm EMG.

Conclusion

Participants engage in LRC to a greater extent at moderate-high cadences which, in turn, increase respiratory airflow. Cadence rate should be carefully considered when designing aerobic training programmes involving the upper-limbs.

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Toronto paramedic delivers 3 babies in 3 weeks

By EMS1 Staff

TORONTO — For a Toronto paramedic, three may be his lucky number. 

George Christidis, 53, said in the last three weeks he's delivered three babies, a streak Toronto Paramedics Service called "really unheard of and a first in recent memory."

Christidis, a 28-year veteran, said he's delivered around 20 babies throughout his career. 

"We would deliver between 40 and 60 babies a year, about once a week," Kim McKinnon, the service's spokesperson, said. "So he [Christidis] has delivered more than his share out of 1,000 paramedics."

Christidis recalled one delivery in which he responded to a woman going into labor at her home. Since there was no time to transport the woman to the hospital, Christidis delivered the baby there. 

"Any deliveries that I've encountered in the field, everybody's a little bit nervous. Because they go 'Are we going to make it to the hospital,' and at some point I think they realize, 'I'm not going to make it to the hospital.' So I think there is some tension there," Christidis told the Toronto Sun. 

When asked about his most recent streak, Christidis said, "I've honestly never had this many in such a short time. I guess the baby gods were smiling on me."

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Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family

Abstract

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant and monogenic disease. Among three types of TRPS, it is known that TRPS type I and type III are caused by deletions or substitutions in the TRPS1 gene, located on chromosome 8 (8q23.3). Although the mutations in TRPS1 gene are responsible for human TRPS, some cases are not detected by the mutations of TRPS1 gene and several cases are presented with different genetic variations. The present case was a sporadic and without TRPS1 mutation. Therefore, we performed whole-exome sequencing (WES) with one patient and his family (father, mother, and brother) and validated novel mutations using PCR and Sanger sequencing. Through family-based WES, we found the two de novo mutations such as ZNF 134 and EXD 3 genes. Through functional effect prediction using disease association Ensembl database, we propose that the de novo mutation of ZNF134 (p.Ser207Arg) could be one of potential candidate genes for causing TRPS and develope the TRPS phenotype in the present case.

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Identification of novel alleles induced by EMS-mutagenesis in key genes of kernel hardness and starch biosynthesis in wheat by TILLING

Abstract

To identify novel allelic variations in key genes of wheat quality, the present study used the targeting induced local lesions in genomes platform to detect point mutations in target genes. The wheat variety Longfumai 17 was treated by the mutagen ethyl methanesulfonate to produce a bulk M₂ generation, and the population included 1122 plants. A total length of 3906.80 kb nucleotides was analyzed, and the average mutation density was 1/244.17 kb. The identified mutations included G>A substitutions (43.75%), C>T substitutions (31.25%), A insertions (12.50%), T insertions (6.25%), and deletions (6.25%). These point mutations led to changes in amino acids and thus the encoded protein sequences, ultimately producing 18.75% of missense mutations, 12.50% of frame shift mutations, 6.25% of nonsense mutations, 25.00% of silent mutations and 37.50% of non-coding region mutations. In the kernel hardness gene Pinb and 3 starch synthesis genes waxy, Agp2 and SSIIa-A, we detected 16 different point mutations in 25 mutant lines. The Pinb gene harbored two missense mutations and a nonsense mutation; the C>T missense mutation resulted in a novel allele, this novel allele and the nonsense mutation alerted protein 3D structure; the waxy gene presented missense and frame shift mutations; the Agp2 gene carried a missense mutation; the SSIIa-A incurred a missense mutation and a frame shift mutation that resulted in premature protein termination. All the frame shift mutations, nonsense mutations and the Pinb novel allele resulted in allelic variation of their corresponding genes, which in turn affected their gene functions. The identified mutant lines can be used as intermediate materials in wheat quality improvement schemes.

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Video: EMS1’s Greg Friese on ambulance theft, security

KXAN interview discussed the growing trend and importance of ambulance security nationwide

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Kinematic and spatiotemporal assessment of habituation to treadmill walking in Labrador retrievers

Background: This study investigated differences in kinematic and spatiotemporal variables in Labrador retrievers during introduction to treadmill walking, with the aim to determine the time required for them to become habituated. Twenty-five healthy, treadmill-naive Labrador retrievers participated in the study. The total angular displacement of the carpus, elbow, tarsus and stifle, as well as stride time and stance duration were calculated from the 3-D tracking of skin mounted reflective markers recorded with 6 infrared light emitting video cameras at 240 Hz. The measurements were done at two walking speeds, 0.78 and 0.96 m/s, in six sessions on the treadmill during two consecutive days. Results: With a 1–2 min acclimatization period following each treadmill speed change, mean values of the study variables were significantly different from the last training session mainly in the first session on the first day. However, between-stride variability was significantly larger for at least one variable even in the fourth session for the slower walking speed, and in the fifth session for the higher walking speed. Conclusions: The results show the importance of proper pre-training of dogs in locomotion studies at walk using a treadmill, and the need to consider not only variable mean values but also between-stride variability, in order to ensure that dogs are sufficiently accustomed to allow collection of reliable data.

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Pathological fractures in predicting clinical outcomes for patients with osteosarcoma

Background: Studies reported contradictory results for the prognostic significance of a pathological fracture in osteosarcoma patients. The aim of this study is to report the outcomes for a cohort of patients with osteosarcoma who presented with and without pathological fractures and to identify the prognostic importance of pathological fracture in predicting outcomes and influences on survival. Methods: Data of patients with osteosarcoma were retrospectively reviewed. Between March 1992 and June 2014, a total of 268 patients with osteosarcoma were included in this analysis, of whom 34 (12.7%) with fractures at diagnosis or sustained after chemotherapy and 234 (87.3%) without fracture. All patients were treated with approaches that integrated chemotherapy and surgical resections to maximal extent of all sites whenever feasible. The association between potential prognostic factors and survival for these patients were analyzed and compared. Results: No significant difference was observed in overall survival, progression free survival, and disease free survival between osteosarcoma patients with pathological fractures and without fracture. The patients without fracture had a 5-year survival of 50% and 10-year survival of 21%, in contrast to 37% (5-year) and 22% (10-year) in patients with fractures. Lung metastasis was the significant predictor for the presence of fractures. Advanced stage (III) of tumor, lung metastasis, poor response to chemotherapy, and local recurrence were associated increased risk for death in all osteosarcoma patients. Conclusion: Pathological fracture is not a predictor of worse survival in this study. Further studies with matched cases are needed to confirm our observations.

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Gene regulatory network inference using PLS-based methods

Background: Inferring the topology of gene regulatory networks (GRNs) from microarray gene expression data has many potential applications, such as identifying candidate drug targets and providing valuable insights into the biological processes. It remains a challenge due to the fact that the data is noisy and high dimensional, and there exists a large number of potential interactions. Results: We introduce an ensemble gene regulatory network inference method PLSNET, which decomposes the GRN inference problem with p genes into p subproblems and solves each of the subproblems by using Partial least squares (PLS) based feature selection algorithm. Then, a statistical technique is used to refine the predictions in our method. The proposed method was evaluated on the DREAM4 and DREAM5 benchmark datasets and achieved higher accuracy than the winners of those competitions and other state-of-the-art GRN inference methods. Conclusions: Superior accuracy achieved on different benchmark datasets, including both in silico and in vivo networks, shows that PLSNET reaches state-of-the-art performance.

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Serum biomarkers and changes in clinical/MRI evidence of golimumab-treated patients with ankylosing spondylitis: results of the randomized, placebo-controlled GO-RAISE study

Background: In the present study, we evaluated relationships between serum biomarkers and clinical/magnetic resonance imaging (MRI) findings in golimumab-treated patients with ankylosing spondylitis. Methods: In the GO-RAISE study, 356 patients with ankylosing spondylitis randomly received either placebo (n = 78) or golimumab 50 mg or 100 mg (n = 278) injections every 4 weeks through week 24 (placebo-controlled); patients continuing GO-RAISE received golimumab through week 252. Up to 139/125 patients had sera collected for biomarkers/serial spine MRI scans (sagittal plane, 1.5-T scanner). Two blinded readers employed modified ankylosing spondylitis spine magnetic resonance imaging score for activity (ASspiMRI-a) and ankylosing spondylitis spine magnetic resonance imaging score for chronicity. Spearman correlations (r s ) were assessed between serum biomarkers (n = 73) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), C-reactive-protein (CRP)-based Ankylosing Spondylitis Disease Activity Score (ASDAS), modified Stokes Ankylosing Spondylitis Spine Score (mSASSS), and ASspiMRI scores. Serum biomarkers predicting postbaseline spinal fatty lesion development and inflammation were analyzed by logistic regression. Results: Significant, moderately strong correlations were observed between baseline inflammatory markers interleukin (IL)-6, intracellular adhesion molecule-1, complement component 3 (C3), CRP, haptoglobin, and serum amyloid-P and baseline ASDAS (r s  = 0.39–0.66, p ≤ 0.01). Only baseline leptin significantly correlated with ASDAS improvement at week 104 (r s  = 0.55, p = 0.040), and only baseline IL-6 significantly predicted mSASSS week 104 change (β = 0.236, SE = 0.073, p = 0.002, model R 2  = 0.093). By logistic regression, baseline leptin, C3, and tissue inhibitor of metalloproteinase (TIMP)-1 correlated with new fatty lesions per spinal MRI at week 14 and week 104 (both p < 0.01). Changes in serum C3 levels at week 4 (r s  = 0.55, p = 0.001) and week 14 (r s  = 0.49, p = 0.040) significantly correlated with BASDAI improvement at week 14. Baseline IL-6 and TIMP-1 (r s  = −0.63, −0.67; p < 0.05) and reductions at week 4 in IL-6 (r s  = 0.61, p < 0.05) and C3 (r s  = 0.72; p < 0.05) significantly correlated with week 14 ASspiMRI-a improvement. Conclusions: Extensive serum biomarker multiparametric analyses in golimumab-treated patients with ankylosing spondylitis demonstrated few correlations with disease activity or MRI changes; IL-6 weakly correlated with radiographic progression.Trial registrationClinicalTrials.gov identifier: NCT00265083. Registered on 12 December 2005.

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China’s community-based strategy of universal preconception care in rural areas at a population level using a novel risk classification system for stratifying couples´ preconception health status

Background: Preconception care (PCC) is recommended for optimizing a woman's health prior to pregnancy to minimize the risk of adverse pregnancy and birth outcomes. We aimed to evaluate the impact of strategy and a novel risk classification model of China´s "National Preconception Health Care Project" (NPHCP) in identifying risk factors and stratifying couples' preconception health status. Methods: We performed a secondary analysis of data collected by NPHCP during April 2010 to December 2012 in 220 selected counties in China. All couples enrolled in the project accepted free preconception health examination, risk evaluation, health education and medical advice. Risk factors were categorized into five preconception risk classes based on their amenability to prevention and treatment: A-avoidable risk factors, B- benefiting from targeted medical intervention, C-controllable but requiring close monitoring and treatment during pregnancy, D-diagnosable prenatally but not modifiable preconceptionally, X-pregnancy not advisable. Information on each couple´s socio-demographic and health status was recorded and further analyzed. Results: Among the 2,142,849 couples who were enrolled to this study, the majority (92.36%) were from rural areas with low education levels (89.2% women and 88.3% men had education below university level). A total of 1463266 (68.29%) couples had one or more preconception risk factors mainly of category A, B and C, among which 46.25% were women and 51.92% were men. Category A risk factors were more common among men compared with women (38.13% versus 11.24%; P = 0.000). Conclusions: This project provided new insights into preconception health of Chinese couples of reproductive age. More than half of the male partners planning to father a child, were exposed to risk factors during the preconception period, suggesting that an integrated approach to PCC including both women and men is justified. Stratification based on the new risk classification model demonstrated that a majority of the risk factors are avoidable, or preventable by medical intervention. Therefore, universal free PCC can be expected to improve pregnancy outcomes in rural China.

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Assessing key cost drivers associated with caring for chronic kidney disease patients

Background: To examine key factors influencing chronic kidney disease (CKD) patients' total expenditure and offer recommendations on how to reduce total cost of CKD care without compromising quality. Methods: Using the 2002–2011 Medical Expenditure Panel Survey (MEPS) data, our cross-sectional study analyzed 197 patient records—79 patients with one record and 59 with two entries per patient (138 unique patients). We used three patient groups, based on international statistical classification of diseases version 9 code for condition (ICD9CODX) classification, to focus inference from the analysis: (a) non-dialysis dependent CKD, (b) dialysis and (c) transplant. Covariate information included region, demographic, co-morbid conditions and types of services. We used descriptive methods and multivariate generalized linear models to understand the impact of cost drivers. We compared actual and predicted CKD cost of care data using a hold-out sample of nine, randomly selected patients to validate the models. Results: Total costs were significantly affected by treatment type, with dialysis being significantly higher than non-dialysis and transplant groups. Costs were highest in the West region of the U.S. Average costs for patients with public insurance were significantly higher than patients with private insurance (p < .0743), and likewise, for patients with co-morbid conditions over those without co-morbid conditions (p < .001). Conclusions: Managing CKD patients both before and after the onset of dialysis treatment and managing co-morbid conditions in individuals with CKD are potential sources of substantial cost savings in the care of CKD patients. Comparing total costs pre and post the United States Affordable Care Act could provide invaluable insights into managing the cost-quality tradeoff in CKD care.

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Expansion of the molecular and morphological diversity of Acanthamoebidae (Centramoebida, Amoebozoa) and identification of a novel life cycle type within the group

Background: Acanthamoebidae is a "family" level amoebozoan group composed of the genera Acanthamoeba, Protacanthamoeba, and very recently Luapeleamoeba. This clade of amoebozoans has received considerable attention from the broader scientific community as Acanthamoeba spp. represent both model organisms and human pathogens. While the classical composition of the group (Acanthamoeba + Protacanthamoeba) has been well accepted due to the morphological and ultrastructural similarities of its members, the Acanthamoebidae has never been highly statistically supported in single gene phylogenetic reconstructions of Amoebozoa either by maximum likelihood (ML) or Bayesian analyses. Results: Here we show using a phylogenomic approach that the Acanthamoebidae is a fully supported monophyletic group within Amoebozoa with both ML and Bayesian analyses. We also expand the known range of morphological and life cycle diversity found in the Acanthamoebidae by demonstrating that the amoebozoans "Protostelium" arachisporum, Dracoamoeba jormungandri n. g. n. sp., and Vacuolamoeba acanthoformis n.g. n.sp., belong within the group. We also found that "Protostelium" pyriformis is clearly a species of Acanthamoeba making it the first reported sporocarpic member of the genus, that is, an amoeba that individually forms a walled, dormant propagule elevated by a non-cellular stalk. Our phylogenetic analyses recover a fully supported Acanthamoebidae composed of five genera. Two of these genera (Acanthamoeba and Luapeleameoba) have members that are sporocarpic. Conclusions: Our results provide high statistical support for an Acanthamoebidae that is composed of five distinct genera. This study increases the known morphological diversity of this group and shows that species of Acanthamoeba can include spore-bearing stages. This further illustrates the widespread nature of spore-bearing stages across the tree of Amoebozoa.ReviewersThis article was reviewed by Drs. Eugene Koonin, Purificacion Lopez-Garcia and Sandra Baldauf. Sandra Baldauf was nominated by Purificacion Lopez-Garcia, an Editorial Board member.

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Normal saline as resuscitation fluid in critically ill patients: not dead yet!

No description available

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Analysis of molecular networks and targets mining of Chinese herbal medicines on anti-aging

Background: Many kidney-tonifying Chinese herbal medicines exert effects on anti-aging by comprehensive interactions of multiple targets. However, the interactions of multi-targets targeted by effective ingredients of kidney-tonifying Chinese herbal medicines are unknown. In this study, to explore the systems pharmacology mechanisms of kidney-tonifying Chinese medicines on anti-aging, we establish the molecular networks with the interactions of multi-targets, analyze bio-functions and pathways with IPA, and calculated the mutual interaction pairs of targets (target pairs) with data mining, respectively. Methods: Kidney-tonifying Chinese medicines with anti-aging effects were screened from the Chinese Pharmacopoeia and the literatures. Target proteins of these herbal medicines were obtained from bioinformatics databases. Comparisons of molecular networks, bio-functions and pathways given by Ingenuity Pathway Analysis system showed the similarities and the differences between kidney Yin-tonifying herbal medicines and kidney Yang-tonifying herbal medicines. Target pairs with high correlation related to anti-aging were also discovered by data mining algorithm. And regulatory networks of targets were built based on the target pairs. Results: Twenty-eight kidney-tonifying herbal medicines with anti-aging effects and 717 related target proteins were collected. The main bio-functions that all targets enriched in were "Cell Death and Survival", "Free Radical Scavenging" and "Cellular Movement", etc. The results of comparison analysis showed that kidney Yin-tonifying herbal medicines focused more on "Cancer related signaling", "Apoptosis related signaling" and "Cardiovascular related signaling". And kidney Yang-tonifying herbal medicines focused more on "Cellular stress and injury related signaling" and "Cellular growth, proliferation and development related signaling". Moreover, the results of regulatory network showed that the anti-aging related target pairs with high correlated degrees of Kidney Yin-tonifying herbal medicines included TNF-PTGS2, TNF-CASP3, PTGS2-CASP3, CASP3-NOS2 and TNF-NOS2, and that of kidney Yang-tonifying herbal medicines included REAL-TNF, REAL-NFKBIA, REAL-JUN, PTGS2-SOD1 and TNF-IL6. Conclusions: In this study, we achieved some important targets, target pairs and regulatory networks with bioinformatics and data mining, to discuss the systems pharmacology mechanisms of kidney-tonifying herbal medicines acting on anti-aging. Mutual target pairs related to anti-aging found in this study included TNF-PTGS2, TNF-CASP3, PTGS2-CASP3, CASP3-NOS2, TNF-NOS2, REAL-TNF, REAL-NFKBIA, REAL-JUN, PTGS2-SOD1 and TNF-IL6. Target pairs and regulatory networks of targets could reflect more potential interactions between targets and comprehensive effects on anti-aging. Compared with the existing researches, it was found that the kidney-tonifying herbal medicines may exert anti-aging effects in multiple pathways in this study.

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Temporal and spatial expression pattern of Nnat during mouse eye development

Publication date: Available online 27 December 2016
Source:Gene Expression Patterns
Author(s): Saadettin Sel, Eva Patzel, Lucia Poggi, Delia Kaiser, Thomas Kalinski, Martin Schicht, Friedrich Paulsen, Norbert Nass
BackgroundNeuronatin (Nnat) was initially identified as a highly expressed gene in neonatal mammalian brain. In this study, we analyze the spatial and temporal expression pattern of Nnat during mouse eye development as well as in the adult.MethodsThe expression of Nnat was analyzed on mRNA as well as protein level. The presence of Nnat transcripts in the adult retina was examined using reverse transcription-polymerase chain reaction (RT-PCR). Nnat protein expression was evaluated by Western blot and immunohistochemistry during eye development at embryonic day (E) 12, 15, 16 and postnatal day (P) 7, 14, 30 and 175 (adult).ResultsImmunohistochemical studies of the developing mouse eye revealed Nnat expression in embryonic and adult neuroretina as well as in corneal epithelial, stromal, endothelial cells and in lens epithelium. Expression of Nnat was detected from E12 onwards and was also present in adult eyes.ConclusionsThe expression pattern suggests that Nnat may play an important role during eye development and in the maintenance of mature eye.



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Age – related changes in mastication

Summary

The paper reviews human mastication, focusing on its age-related changes. The first part describes mastication adaptation in young healthy individuals. Adaptation to obtain a food bolus ready to be swallowed relies on variations in number of cycles, muscle strength and volume of emitted saliva. As a result, the food bolus displays granulometric and rheological properties, the values of which are maintained within the adaptive range of deglutition. The second part concerns healthy aging. Some mastication parameters are slightly modified by age, but aging itself does not impair mastication, as the adaptation possibilities remain operant. The third part reports on very aged subjects, who display frequent systemic or local diseases. Local and/or general diseases such as tooth loss, salivary defect, or motor impairment are then indistinguishably superimposed on the effects of very old age. The resulting impaired function increases the risk of aspiration and choking. Lastly, the consequences for eating behavior and nutrition are evoked.

This article is protected by copyright. All rights reserved.

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Impact of simulation-based teaching of applied physiology of the cardiovascular system on the undergraduate medical student

2016-12-28T06-33-55Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Rachula Daniel, Saravanan Ayyavoo, Thilagavathi R.
Background: The undergraduate medical student, in his I year of studies, is required to know about Applied Physiology. The teaching of Applied Physiology concepts that occur in real life situations in a classroom is understandably difficult. Simulation-based teaching in medical education is an active learning format which imparts enduring knowledge. Medical simulation is an imitation of human physiological processes and changes observed in disease using a computerized model system called a human patient simulator (HPS), and the medical student acquires knowledge by practicing on them through role play, when they are given a clinical scenario. Aims and Objectives: To analyze if simulation-based teaching has an impact on the knowledge and skills of undergraduate medical students in Applied Physiology of the cardiovascular system. Materials and Methods: 150 undergraduate students of I year MBBS, of both sexes were included in this experimental study. Each student had a hands-on experience on the HPS and underwent simulation-based teaching with clinical case scenarios to facilitate better understanding of Applied Physiology of the cardiovascular system. A self-administered, pretested questionnaire was given as pre- and post-test questionnaire. The data were analyzed using SPSS version 22.0 and paired t-test. Results: Our results showed that simulation-based teaching has a significant impact on the knowledge and skills of undergraduate medical students in Applied Physiology of the cardiovascular system and both male and female students have been shown to have received the same level of impact. Conclusion: This study has highlighted that simulation-based teaching is an innovative method to impact the knowledge and skills of undergraduate medical students in Applied Physiology of the cardiovascular system.


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Detection of the involvement of salivary glands in autoimmune diseases of thyroid gland by using Ttc-99m MIBI

2016-12-28T06-41-32Z
Source: Journal of Contemporary Medicine
Deniz Söylemez ¹, Gül Gümüşer ², Ebru Dursun Rükşen³, Elvan Sayıt Bilgin².
Aim: The aim of this study was to determine the involvement in the salivary glands of the patients with Graves Disease, Hashimoto Thyroiditis and controls by detecting the changes of Tc-99m Methoxyisobutylisonitrile (Tc-99m MIBI) uptake. Material and Methods: The study was conducted between January 2008 and December 2009. 19 patients with Graves disease (6 men, 13 women), 28 Hashimoto Thyroiditis patients (5 men, 23 women) and 11 euthyroid controls (4 men, 7 women) were evaluated retrospectively. Uptake values of parotid and submandibular glands were calculated by drawing elliptical ROIs (region of interest) and using the formula for uptake calculation. Result: In all three groups, in parotis glands, a statistical significant difference between Tc-99m MIBI uptake was not detected. The Tc-99m MIBI upateke values in submandibular glands were statistically different among patients with GravesDisease, Hashimoto Thyroiditis, as well as in Control group (p


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Evaluation of cardiovascular autonomic reactivity by cold pressor test in thyroid dysfunction in adults: A prospective case–control study

2016-12-28T06-33-55Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Sunita Milind Tiwale, Padmaja Rajey Desai.
Background: Changes, in thyroid status, have pronounced effects on cardiovascular system reflecting autonomic dysfunction and increased morbidity. Exact interaction between autonomic nervous activity and thyroid hormones is controversial. Aims and Objective: The cold pressor test (CPT) was used to evaluate cardiac autonomic function in thyroid patients and compared with age and sex-matched healthy controls (18-45 years). Materials and Methods: This was a prospective casecontrol study. By clinical examination and serum levels of (T3, T4 and TSH) three groups hypothyroid, hyperthyroid and control group were categorized and blood pressure (BP) responses to CPT were evaluated in these groups. Statistical analysis was performed using students t-test. Results: In hyperthyroid group, rise in systolic BP after CPT is not as that of control group. However, the difference in mean rise is statistically highly significant. While in hypothyroid group rise in diastolic BP is statistically highly significant as compared to that of control group. Conclusion: In hypothyroidism, lack of direct action of thyroid hormones is compensated by increased basal sympathetic tone which exhibits blunted sympatho - excitatory responses leading to aortic stiffness and resistance. This prevents fall in systolic pressure and further reduces vagal tone. Hence, rise in systolic BP after CPT declined but insignificant (P > 0.05). In hyperthyroidism, significant decrease (P 0.05) in diastolic BP after CPT suggests direct action of thyroid hormone on vascular smooth muscles causing vasodilatation and reduced vagal tone decreasing sympathetic activity. Thus, the study revealed thyroid dysfunction leads to sympathovagal imbalance affecting cardiac autonomic function.


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A correlational study of visual and auditory reaction time with their academic performance among the first year medical students

2016-12-28T06-33-55Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Prabhavathi K, Hemamalini R V, Thilip Kumar G, Christopher Amalraj, Maruthy K N, Saravanan A.
Background: Reaction time (RT) is a measure of the response to a stimulus which plays a very important role in our lives as its practical implications may be of great consequences in the learning process and cognition. Aims and Objectives: To compare visual RTs (VRTs) and auditory RTs (ARTs) on the basis of gender and to correlate it with the academic performance. Materials and Methods: This is a cross-sectional study conducted on 100 first year medical students, out of which 50 were males and 50 were females. The RT was tested using PC1000Hz RT. Academic performance was considered as an average of the internal assessment test conducted in physiology in the academic years 2015-16. Statistical analysis was performed sing SPSS software version 19. Result: The ART is (184 ms) faster than VRT (208 ms) in both males and females. VRT and ART were significantly different between males and females (P

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Peak expiratory flow rate in healthy school children

2016-12-28T06-33-55Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Veera Mohan Rao M, Rameswarudu M.
Background: Peak expiratory flow rate (PEFR) assesses the overall functional status of the respiratory system. Aims and Objectives: The aim of this study was to observe the PEFR in school going healthy children, in a town located in the southern part of India. To illustrate the relation among the age, height, weight, and PEFR in the school going children. Materials and Methods: 119 school going healthy boys were selected randomly, aged between 5 and 16 years. Anthropometric parameters, namely, height and weight of the subjects were measured to the nearest reading with minimal clothes on and without footwear using stadiometer and weighing machine, respectively. Subjects were divided into five groups: Group I with a height range of 101-120 cm, Group II with 121-130 cm; Group III with 131-140 cm; Group IV with 141-150 cm; and Group V with 151-160 cm. PEFR was measured using the pocket flow meter and wrights flow meter. Results: Mean PEFR values with standard deviation in the five groups with pocket flow meter and with wrights flow meter are Group I: 159 ± 18.3 and 118 ± 22.5, Group II: 227 ± 31.0 and 204 ± 31.8, Group III: 253 ± 52.0 and 234 ± 51.2, Group IV: 309 ± 43 and 296 ± 40.9, and Group V: 368 ± 51.0 and 343 ± 47.7. Correlation coefficient was also calculated between the height and PEFR, measured with pocket flow meter in all the five groups; 0.64, 0.68, 0.25, 0.47, and 0.69 from Groups I to V. Conclusion: PEFR is increased with the increasing in height of the subjects.


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Dynamic properties of independent chromatin domains measured by correlation spectroscopy in living cells

Background: Genome organization into subchromosomal topologically associating domains (TADs) is linked to cell-type-specific gene expression programs. However, dynamic properties of such domains remain elusive, and it is unclear how domain plasticity modulates genomic accessibility for soluble factors. Results: Here, we combine and compare a high-resolution topology analysis of interacting chromatin loci with fluorescence correlation spectroscopy measurements of domain dynamics in single living cells. We identify topologically and dynamically independent chromatin domains of ~1 Mb in size that are best described by a loop-cluster polymer model. Hydrodynamic relaxation times and gyration radii of domains are larger for open (161 ± 15 ms, 297 ± 9 nm) than for dense chromatin (88 ± 7 ms, 243 ± 6 nm) and increase globally upon chromatin hyperacetylation or ATP depletion. Conclusions: Based on the domain structure and dynamics measurements, we propose a loop-cluster model for chromatin domains. It suggests that the regulation of chromatin accessibility for soluble factors displays a significantly stronger dependence on factor concentration than search processes within a static network.

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The detailed 3D multi-loop aggregate/rosette chromatin architecture and functional dynamic organization of the human and mouse genomes

Background: The dynamic three-dimensional chromatin architecture of genomes and its co-evolutionary connection to its function—the storage, expression, and replication of genetic information—is still one of the central issues in biology. Here, we describe the much debated 3D architecture of the human and mouse genomes from the nucleosomal to the megabase pair level by a novel approach combining selective high-throughput high-resolution chromosomal interaction capture (T2C), polymer simulations, and scaling analysis of the 3D architecture and the DNA sequence. Results: The genome is compacted into a chromatin quasi-fibre with ~5 ± 1 nucleosomes/11 nm, folded into stable ~30–100 kbp loops forming stable loop aggregates/rosettes connected by similar sized linkers. Minor but significant variations in the architecture are seen between cell types and functional states. The architecture and the DNA sequence show very similar fine-structured multi-scaling behaviour confirming their co-evolution and the above. Conclusions: This architecture, its dynamics, and accessibility, balance stability and flexibility ensuring genome integrity and variation enabling gene expression/regulation by self-organization of (in)active units already in proximity. Our results agree with the heuristics of the field and allow "architectural sequencing" at a genome mechanics level to understand the inseparable systems genomic properties.

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Critical Appraisal of Research in Education Technology in Health Science Institutes of Central India.

2016-12-28T05-55-21Z
Source: National Journal of Integrated Research in Medicine
Suresh N Chari*, Shubhada Anant Gade**.
In todays era of evidence based medicine recent advances in medicine have been understood & adopted by all the disciplines of health sciences but the same is not true for the methods & strategies in medical education. Quality medical education provides quality improvement in healthcare & for quality medical education evidence has to be created by undertaking educational research. Methods: A questionnaire based study was designed for the teachers of the health science institutes of Nagpur & adjoining region based on the completion of education technology workshops, number of educational research projects undertaken & publications. Coordinators of the MEU were interviewed to get a larger picture. Results: 1. Three days Basic Course in education technology was completed by more than 85% medical teachers, 60-70% dentistry, 40-50%ayurved, 50% physiotherapy & homeopathy and 20-30% nursing teachers. 2. Advance course / fellowship in medical education was completed by less than 5% medical,2-3%dentistry & Physiotherapy& less than 1% ayurved & no nursing& homeopathy teachers. 3. Educational Research: less than 5% medical, 2-3% dentistry & physiotherapy, less than 1% ayurved & no one from nursing & homeopathy colleges have undertaken educational research projects. 4. Educational publication: 1-2 % medical, dentistry & physiotherapy teachers, & less than 1% ayurved & none from nursing & homeopathy colleges. 5. Reasons: time crunch: 70%, personal: 40%, administrative responsibility: 20%, support from higher authorities: 20%, priority to speciality subjects:10%, Poor salary structure for homeopathy teacher. Coordinators MEU blamed it to apathy. Conclusion: Mere attending workshops and conferences has not been able to generate interest about educational research in the teachers. [Suresh C NJIRM 2016; 7(6): 69-73]


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RNA: The code in the cap

Nature Reviews Genetics. doi:10.1038/nrg.2016.165

Author: Linda Koch

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Development: Modifying sex in flies

Nature Reviews Genetics. doi:10.1038/nrg.2016.164

Author: Denise Waldron

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Genetic engineering: A genome-editing off switch

Nature Reviews Genetics. doi:10.1038/nrg.2016.166

Author: Ross Cloney

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Down syndrome and the complexity of genome dosage imbalance

Nature Reviews Genetics. doi:10.1038/nrg.2016.154

Author: Stylianos E. Antonarakis

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SH2B1 modulates chromatin state and MyoD occupancy to enhance expressions of myogenic genes

Publication date: Available online 27 December 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Kuan-Wei Chen, Yu-Jung Chang, Chia-Ming Yeh, Yen-Ling Lian, Michael W.Y. Chan, Cheng-Fu Kao, Linyi Chen
As mesoderm-derived cell lineage commits to myogenesis, a spectrum of signaling molecules, including insulin growth factor (IGF), activate signaling pathways and ultimately instruct chromatin remodeling and the transcription of myogenic genes. MyoD is a key transcription factor during myogenesis. In this study, we have identified and characterized a novel myogenic regulator, SH2B1. Knocking down SH2B1 delays global chromatin condensation and decreases the formation of myotubes. SH2B1 interacts with histone H1 and is required for the removal of histone H1 from active transcription sites, allowing for the expressions of myogenic genes, IGF2 and MYOG. Chromatin immunoprecipitation assays suggest the requirement of SH2B1 for the induction of histone H3 lysine 4 trimethylation as well as the reduction of histone H3 lysine 9 trimethylation at the promoters and/or enhancers of IGF2 and MYOG genes during myogenesis. Furthermore, SH2B1 is required for the transcriptional activity of MyoD and MyoD occupancy at the enhancer/promoter regions of IGF2 and MYOG during myogenesis. Together, this study demonstrates that SH2B1 fine-tunes global-local chromatin states, expressions of myogenic genes and ultimately promotes myogenesis.



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How Large are Earnings Penalties for Self-Employed and Informal Wage Workers?

This paper examines the earnings penalties and premiums associated with different types of employment in 73 countries. Workers are divided into four categories: non-professional own-account workers, employers and own-account professionals, informal wage employees, and formal wage employees. Approximately half of the workers in low income countries are non-professional own-account workers, and the majority of the rest are informal employees. Fewer than 10 percent are formal employees, and only 2 percent of workers in low income countries are employers or own-account professionals. As per capita gross domestic product increases across countries, there are large net shifts from non-professional own-account work into formal wage employment. Across all regions and income levels, non-professional own-account workers and informal wage employees face an earnings penalty compared with formal wage employees. But in low income countries, this earnings penalty is small, and non-professional own-account workers earn a positive premium relative to all wage employees. Earnings penalties for non-professional own-account workers tend to increase with gross domestic product and are largest for female workers in high income countries. On average, employers and own-account professionals earn a premium compared to employees, although there are important differences across countries and between men and women. In terms of regional differences, earnings premiums for employers and professionals are largest for men in middle income Latin American countries. On the other hand, women employers and professionals do not earn a statistically significant premium compared to employees in any region of the world. These results are consistent with compensating wage differentials and firm quasi-rents playing important roles in explaining cross-country variation in earnings penalties, and raise questions about the extent to which the unskilled self-employed are rationed out of formal wage work in low income countries.JEL Codes: J31, O17.

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