As outlined in the editorial by Stecker et al. (2017) in the October issue of Clinical Neurophysiology, there is little difference between the evidence for a p-value slightly less than 0.05 and another slightly larger than 0.05. However, based on a stringent cut-off of α = 0.05, a hypothesis for which p = 0.04 is conventionally accepted as true while, alternatively, with a p = 0.06 is rejected since it is "not significant". This is a common and uncomfortable "In-or-Out" scenario, but also every time a test of statistical significance is employed, researchers' interpretation of the study findings would greatly benefit from the valuable data conveyed by confidence intervals.
from Physiology via xlomafota13 on Inoreader http://ift.tt/2DYstz1
via IFTTT
Σάββατο 3 Φεβρουαρίου 2018
Is it significant? Is it relevant?
Finger Strength, Individuation, and their Interaction: Relationship to Hand Function and Corticospinal Tract Injury after Stroke
Many activities of daily living require dexterous use of the fingers, such as opening a door, buttoning a shirt, and holding a fork. Such activities often become more effortful and slower after a stroke, and sometimes impossible to achieve with the hemiparetic hand. Thus, approximately 50% of the 700,000 individuals who survive a stroke each year in the U.S. have persistent upper extremity impairment (Dobkin, 1996; Heller et al., 1987; Ma et al., 2014; Warabi et al., 1990). Understanding the pathophysiological mechanisms that cause reduced hand function is essential for targeting stroke therapies.
from Physiology via xlomafota13 on Inoreader http://ift.tt/2DZizkM
via IFTTT
The Clinical Utility of Qualitative Electroencephalography during Tilt Table Testing – a Retrospective Study
Head-up tilt table testing (HUT) is often performed to aid in the diagnosis of patients with unexplained syncope (Task Force for the Diagnosis and Management of Syncope et al., 2009) or other disorders of orthostatic intolerance, such as orthostatic hypotension (OH) or postural tachycardia syndrome (POTS) (Freeman, 2008). It may also be performed to help rule out other diagnoses such as epileptic seizures, which can be difficult to differentiate from convulsive syncope, or myoclonus associated with syncope.
from Physiology via xlomafota13 on Inoreader http://ift.tt/2nFp3dG
via IFTTT
Diagnostic yield of standard-wake and sleep EEG recordings
Sleep influences neuronal excitability and thereby occurrence of epileptic discharges (Burr et al., 1991; Declerck, 1986; Janz, 1962; Marinig et al., 2000; Martins da Silva et al., 1984). Several studies showed that in patients suspected for epilepsy, following normal or inconclusive standard-wake EEG, recording sleep EEG increases the diagnostic yield (Bennett et al., 1964, 1969; Gunderson et al. 1973; Jovanovic, 1991; Niedermeyer, 1993; Roupakiotis et al., 2000) by activating epileptiform discharges (Degen, 1980; Geller et al., 1969; Klinger et al., 1991; Logothetis et al.
from Physiology via xlomafota13 on Inoreader http://ift.tt/2E0lnOw
via IFTTT
Preventive radioecological assessment of territory for optimization of monitoring and countermeasures after radiation accidents
Source:Journal of Environmental Radioactivity
Author(s): B.S. Prister, V.D. Vinogradskaya, T.D. Lev, M.M. Talerko, E.K. Garger, Y. Onishi, O.G. Tischenko
A methodology of a preventive radioecological assessment of the territory has been developed for optimizing post-emergency monitoring and countermeasure implementation in an event of a severe radiation accident. Approaches and main stages of integrated radioecological zoning of the territory are described. An algorithm for the assessment of the potential radioecological criticality (sensitivity) of the area is presented. The proposed approach is validated using data of the dosimetric passportization in Ukraine after the Chernobyl accident for the test site settlements.
from Radiology via xlomafota13 on Inoreader http://ift.tt/2s99wZc
via IFTTT
Mapping potassium and thorium concentrations in Belgian soils
Source:Journal of Environmental Radioactivity
Author(s): Giorgia Cinelli, Francois Tondeur, Boris Dehandschutter
The European Atlas of Natural Radiation developed by the Joint Research Centre (JRC) of the European Commission includes maps of potassium K and thorium Th. With several different databases available, including data (albeit not calibrated) from an airborne survey, Belgium is a favourable case for exploring the methodology of mapping for these natural radionuclides. Harmonized databases of potassium and thorium in soil were built by radiological (not airborne) and geochemical data. Using this harmonized database it was possible to calibrate the data from the airborne survey. Several methods were used to perform spatial interpolation and to smooth the data: moving average (MA) without constraint, or constrained by soil class and by geological unit. Overall, there was a reasonable agreement between the maps on a 1 × 1 km2 grid obtained with the two datasets (airborne data and harmonized soil data) with all the methods. The agreement was better when the maps are reduced to a 10 km × 10 km grid used for the European Atlas of Natural Radiation. The best agreement was observed with the MA constrained by geological unit.
from Radiology via xlomafota13 on Inoreader http://ift.tt/2GJxtJv
via IFTTT
Exercise Prescription Using a Group Normalized Rating of Perceived Exertion in Adolescents and Adults with Spina Bifida
People with spina bifida (SB) face personal and environmental barriers to exercise that contribute to physical inactivity, obesity, risk of cardiovascular disease and poor aerobic fitness. The WHEEL rating of perceived exertion (RPE) scale was validated in people with SB to monitor exercise intensity. However, the psycho-physiological link between RPE and ventilatory breakpoint (Vpt), the Group Normalized Perceptual Response, has not been determined and would provide a starting point for aerobic exercise in this cohort.
from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2DZuHhL
via IFTTT
Intraoperative Hippocampal Electrocorticography Frequently Captures Electrographic Seizures and Correlates with Hippocampal Pathology
In patients with pharmacoresistant temporal lobe epilepsy (TLE), the epileptogenic zone commonly involves the medial temporal lobe structures including the hippocampus. Removal of the hippocampus by resecting the medial temporal lobe either selectively or along with the temporal neocortex provides lasting seizure freedom (Datta et al., 2009; Kumar et al., 2013; Mittal et al., 2005; Olivier, 2000; Tanriverdi et al., 2008; Wiebe et al., 2001; Wieser et al., 2003; Wieser and Yasargil, 1982; Yasargil et al., 2010).
from Physiology via xlomafota13 on Inoreader http://ift.tt/2BSA54a
via IFTTT
A Novel, Fast and Efficient Single-Sensor Automatic Sleep-Stage Classification Based on Complementary Cross-Frequency Coupling Estimates
Sleep as a basic human function is characterized by continuous alterations in brain, muscle, eye, heart and respiratory activity. These multi-dimensional alterations are monitored with appropriate equipment in a sleep laboratory and are measured during a full night of sleep. Typically, these polysomnographic recordings include the electroencephalogram (EEG), electro-oculogram (EOG), electromyogram (EMG) and electrocardiogram (ECG). Physiologically, sleep stages can be split into two types: rapid eye movement (REM sleep) and non-rapid eye movement (non-REM sleep) (Steriade and McCarley, 1990).
from Physiology via xlomafota13 on Inoreader http://ift.tt/2nz8KQ9
via IFTTT
Randomized EEG Functional Brain Networks in Major Depressive Disorders with Greater Resilience and Lower Rich-club Coefficient
With the development of brain imaging technology, abnormalities in the structure and function of multiple brain regions have been frequently found in the brains of major depressive disorder (MDD) patients (Arnone et al., 2012; Brakowski et al., 2017; Liang et al., 2013; Liu et al., 2013; Osoba et al., 2013). However, the results associated with these abnormal brain regions are widely distributed, and it is still difficult to understand and explore the pathological characteristics of MDD patients at the whole-brain level (Hulshoff Pol and Bullmore, 2013).
from Physiology via xlomafota13 on Inoreader http://ift.tt/2BSzzmK
via IFTTT
Dose-Response Effects of Tai Chi and Physical Therapy Exercise Interventions in Symptomatic Knee Osteoarthritis
Therapeutic exercise is a currently recommended non-pharmacological treatment for knee osteoarthritis (KOA). The optimal treatment dose (frequency or duration) has not been determined.
from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2s42Xa3
via IFTTT
Subconcussive head impacts in sport: A systematic review of the evidence
Source:International Journal of Psychophysiology
Author(s): Lynda Mainwaring, Kaleigh M. Ferdinand Pennock, Sandhya Mylabathula, Benjamin Z. Alavie
PurposeTo identify and evaluate the evidence that examines subconcussive impacts in sport-specific settings, and address two objectives: a) to determine how 'subconcussion' is characterized in the current literature, and b) to identify directions for future research.Research designSystematic review.Methods and proceduresCINAHL, EMBASE, MedLine, PsycINFO, SportDiscus, and Web of Science were searched for articles that sought to assess subconcussive impacts or outcomes related to non-concussive head impact exposure. Eligible articles were reviewed and evaluated with three quality assessment tools by rotating pairs of reviewers.ResultsA total of 1966 articles were screened. Fifty-six studies met the inclusion criteria. Studies were classified into three main categories based on primary focus: neurobiological, neuropsychological, and impact exposure metrics. The neurobiological studies suggested that in male athletes, functional and microstructural deterioration was associated with repetitive head impacts. There was insufficient to weak evidence for the relationship between repetitive hits to the head and deterioration in neurocognitive performance. Studies of impact exposure metrics examined various indices, including linear acceleration, rotational acceleration, and location and frequency of hits. Insufficient evidence was presented to determine a minimal injury threshold for repetitive hits to the head. Across all categories of studies there was a lack of consistency and clarity in defining and measuring variables related to the concept of 'subconcussion'.ConclusionsEvidence reviewed predominantly from studies of male athletes in contact and collision sports identifies that repetitive hits to the head are associated with microstructural and functional changes in the brain. Whether these changes represent injury is unclear. We determined the term 'subconcussion' to be inconsistently used, poorly defined, and misleading. Future research is needed to characterize the phenomenon in question.
from Physiology via xlomafota13 on Inoreader http://ift.tt/2DZPMbX
via IFTTT
De novo transcriptome analysis of Rhododendron molle G. Don flowers by Illumina sequencing
Abstract
Rhododendron molle G. Don occupies an important phylogenetic node in the genus rhododendron with unique yellow flower and medicinal functions. However, only limited genetic resources and their genome information are available for the generation of rhododendron flowers. The next generation sequencing technologies enables generation of genomic resources in a short time and at a minimal cost, and therefore provide a turning point for rhododendron research. Our goal is to use the genetic information to facilitate the relevant research on flowering and flower color formation in R. molle. In total, 66,026 unigenes were identified, among which 31,298 were annotated in the NCBI non-redundant protein database and 22,410 were annotated in the Swiss-Prot database. Of these annotated unigenes, 9490 and 18,680 unigenes were assigned to clusters of orthologous groups and gene ontology categories, respectively. A total of 7177 genes were mapped to 118 pathways using the Kyoto Encyclopedia of Genes and Genomes Pathway database. In addition, 8266 simple sequence repeats (SSRs) were detected, and these SSRs will undoubtedly benefit rhododendron breeding work. Metabolic pathway analysis revealed that 32 unigenes were predicted to be involved in carotenoid biosynthesis. Our transcriptome revealed 32 engines that encode key enzymes in the carotenoid biosynthesis pathway, including PSY, PDS, LCYB, LCYE, etc. The content of β-carotene was much higher than the other carotenoids throughout the flower development. It was consistent with the key genes expression level in the carotenoid biosynthesis pathway by the Illumina expression profile analysis and the qRT-PCR analysis. Our study identified genes associated with carotenoid biosynthesis in R. molle and provides a valuable resource for understanding the flowering and flower color formation mechanisms in R. molle.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2DXGSiZ
via IFTTT
Genome-wide identification and evolution of TC1 / Mariner in the silkworm ( Bombyx mori ) genome
Abstract
TC1/Mariner transposons belong to class II transposable elements (TEs) that use DNA-mediated "cut and paste" mechanism to transpose, and they have been identified in almost all organisms. Although silkworm (Bombyx mori) has a large amount of TC1/Mariner elements, the genome wide information of this superfamily in the silkworm is unknown. In this study, we have identified 2670 TC1/Mariner (Bmmar) elements in the silkworm genome. All the TEs were classified into 22 families by means of fgclust, a tool of repetitive sequence classification, seven of which was first reported in this study. Phylogenetic and structure analyses based on the catalytic domain (DDxD/E) of transposase sequences indicated that all members of TC1/Mariner were grouped into five subgroups: Mariner, Tc1, maT, DD40D and DD41D/E. Of these five subgroups, maT rather than Mariner possessed most members of TC1/Mariner (51.23%) in the silkworm genome. In particular, phylogenetic analysis and structure analysis revealed that Bmmar15 (DD40D) formed a new basal subgroup of TC1/Mariner element in insects, which was referred to as bmori. Furthermore, we concluded that DD40D appeared to intermediate between mariner and Tc1. Finally, we estimated the insertion time for each copy of TC1/Mariner in the silkworm and found that most of members were dramatically amplified during a period from 0 to 1 mya. Moreover, the detailed functional data analysis showed that Bmmar1, Bmmar6 and Bmmar9 had EST evidence and intact transposases. These implied that TC1/Mariner might have potential transpositional activity. In conclusion, this study provides some new insights into the landscape, origin and evolution of TC1/Mariner in the insect genomes.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2nF6qXk
via IFTTT
Genome-wide identification and expression analysis of YTH domain-containing RNA-binding protein family in cucumber ( Cucumis sativus )
Abstract
YTH domain-containing RNA-binding proteins are involved in post-transcriptional regulation and play important roles in the growth and development as well as abiotic stress responses of plants. However, YTH genes have not been previously studied in cucumber (Cucumis sativus). In this study, a total of five YTH genes (CsYTH1–CsYTH5) were identified in cucumber, which could be mapped on three out of the seven cucumber chromosomes. All CsYTH proteins had highly conserved C-terminal YTH domains, and two of them (CsYTH1 and CsYTH4) harbored extra CCCH and P/Q/N-rich domains. The phylogenesis, conserved motifs and exon–intron structure of YTH genes from cucumber, Arabidopsis and rice were also analyzed. The phylogenetically closely clustered YTHs shared similar gene structures and conserved motifs. An analysis of the cis-acting regulatory elements in the upstream region of these genes resulted in the identification of many cis-elements related to stress, hormone and development. Expression analysis based on the transcriptome data showed that some CsYTHs had development- or tissue-specific expression. In addition, their expression levels were altered under various stresses such as salt, drought, cold, and abscisic acid (ABA) treatments. These findings lay the foundation for the functional analysis of CsYTHs in the future.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2DY5Pee
via IFTTT
Development of genic-SSR markers and genetic diversity of Indian lettuce ( Lactuca indica L.) in South Korea
Abstract
Indian lettuce (Lactuca indica L.) is an undomesticated wild plant with high economic potential. We know little about the plant's genome, such as its DNA markers, making genetic research using this plant difficult. In this study, 100 genic simple sequence repeat (SSR) primers with a 99–250 bp target amplicon were synthesized from L. indica transcriptomic sequences. These primers were examined in 8 diverse L. indica accessions, and 90 polymorphic SSRs were obtained. Twenty-three of the 90 polymorphic SSRs were used to investigate transferability to another two Lactuca species, Lactuca serriola and Lactuca sativa. Genetic diversity was investigated in 77 Lactuca accessions, including 73 L. indica collected from across South Korea, 2 L. serriola, and 2 L. sativa. Our genic-SSR markers were highly polymorphic with a mean polymorphic information content of 0.61 and, on average, 10.83 alleles per locus. The average expected heterozygosity (0.76) was higher than the observed heterozygosity. An analysis of molecular variance revealed that most of the total variance in our population is attributable to genetic variation among accessions, rather than among provinces. STRUCTURE, unweighted neighbor-joining phylogenetic trees, and principal coordinate analyses resulted in three clusters, where northern and central-southern L. indica accessions were grouped into two clusters with some admixture. The L. serriola and L. sativa accessions did not produce a separate cluster due to a small sample size. These results show our SSR markers will be useful in germplasm assessment and genetic studies of L. indica and other Lactuca species.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2nIEFx9
via IFTTT
Transcriptome-based identification of the optimal reference genes as internal controls for quantitative RT-PCR in razor clam ( Sinonovacula constricta )
Abstract
Quantitative real-time PCR (qRT-PCR) is a standard method to measure gene expression in function exploring. Accurate and reproducible data of qRT-PCR requires appropriate reference genes, which are stably expressed under different experimental conditions. However, no housekeeping genes were validated as internal controls for qRT-PCR in Sinonovacula constricta. In this study, we classified the transcriptome data of two tissues for Vibrio infection and Cd2+ stress into ten clusters based on the gene expression patterns. Among them, cluster 5 had the most stable gene expression patterns regardless of tissues and treatments as the database for candidate reference genes. A total of 55 orthologs of classical housekeeping genes in the clam transcriptome were annotated. Combined the expression profiles and housekeeping genes in S. constricta, we chose eight candidate reference genes and validated their expression in Vibrio-infected samples and different tissues by qRT-PCR. Their expression stability was analyzed by three different algorithms geNorm, NormFinder and BestKeeper. Although the rank of the eight candidate reference genes is different in different treatments using different software, RS9 could be the best reference genes for normalization of qRT-PCR expression data in S. constricta under various treatments considering the above analysis. Meanwhile, the ranking of genes based on the CV values of transcriptomic data was similar to the validation results. This study provides for the first time a list of suitable reference genes for S. constricta and a valuable resource for further studies of clam immune defense systems.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2DY5MPA
via IFTTT
Retrotransposons in Betula nana , and interspecific relationships in the Betuloideae, based on inter-retrotransposon amplified polymorphism (IRAP) markers
Abstract
The Betulaceae family comprises two subfamilies, Betuloideae and Corylaceae. The subfamily Betuloideae contains two genera, Alnus Mill. and Betula L. Twenty putative long terminal repeat (LTR) retrotransposons were mined from 171 scaffolds containing 5,208,995 bp of dwarf birch (Betula nana) genome sequences. Five retrotransposons were finally selected after filtering the retrotransposon canonical features and nucleotide similarities between left and right LTR sequences. Of the five retroelements, three elements were found to be Ty1/Copia retrotransposons; identity of the other two elements could not be ascertained due to sequence undetermined 'N' bases in the sequence database. Inter-retrotranposon amplified polymorphism (IRAP) analysis, based on the LTR sequences of the mined LTR-retrotransposons, produced 179 discernible IRAP bands among the Alnus and Betula genera. Sequence analysis revealed no size homoplasy among the homologous IRAP bands. Phylogenetic and principle coordinate analysis, based on the band sharing among the taxa, showed the species in two different genera were clearly separated. The subgenera in each genus of Alnus and Betula were also distinguishable from the IRAP profiles. In the genus Betula, the species in subgenus Betula showed mixed clustering between species. This is incongruent with the phylogeographical distribution of the species.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2nFaQ08
via IFTTT
PSCArs2294008 T polymorphism increases the risk of bladder cancer in Bai, Dai, and Han ethnicity in China and a potential mechanism
Abstract
The aim of this study is to make a comparative evaluation on association of PSCArs2294008 C/T polymorphism with the risk of bladder cancer in Bai, Dai, and Han people in China. A potential mechanism of the T allele risk was also investigated. T allele increased the occurring risk of bladder cancer in Han (OR 1.34; 95% CI 1.17–1.69), Dai, (OR 1.33; 95% CI 1.12–1.70), and Bai (OR 1.14; 95% CI 1.08–1.57) people. T genotype was also observed to associate with invasive bladder cancer in all the three populations (Bai, OR 1.15, 95% CI 1.07–1.87; Dai, OR 1.17, 95% CI 1.05–2.23; Han, OR 1.22, 95% CI 1.10–2.09). PSCA m-RNA levels in T genotype bladder cancer tissues were significantly lower than those in C genotype. An enhancement of PSCA m-RNA level by over-expressing C or T genotype in bladder cancer cells both decreased the cell proliferation and migration, but not affected cell cycle. The increased cell apoptasis due to the over-expression of the two variants was observed. Those change of cell proliferation, migration, and apoptasis was more remarkable in over-expressed C genotype cells than those in over-expressed T genotype. T genotype was genetically high risk to the occurrence of bladder cancer. The decreased PSCA m-RNA levels were involved in the progress of bladder cancer. T allele takes more responsibility for PSCA m-RNA down-regulation to promote cell proliferation and migration and hinder cell apoptasis, thus leading to a higher risk.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2DXGz7P
via IFTTT
What provides a better value for your time? the use of relative value units to compare posterior segmental instrumentation of vertebral segments
Relative value units (RVUs) are a compensation model based on the effort required to provide a procedure or service to a patient. Thus, procedures that are more complex and require greater technical skill and aftercare, such as multi-level spine surgery, should provide greater physician compensation. However, there is limited data comparing RVUs to operative time. Therefore, the purpose of this study was to compare mean: 1) operative times; 2) RVUs; and 3) RVU/minute between posterior segmental instrumentation of 3 to 6, 7 to 12, and ≥13 vertebral segments, and 4) perform annual cost difference analysis.
from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2nBylIn
via IFTTT
Feasibility and Psychometric Properties of the Infant Toddler Quality of Life (ITQOL) Questionnaire in a Community-Based Sample of Healthy Infants in China
Abstract
Objective Evaluate the feasibility and psychometric properties of the Infant Toddler Quality of Life (ITQOL) questionnaire as a measure of health-related quality of life (HRQOL) in a sample of Chinese infants. Methods The linguistically validated Simplified Chinese version of the ITQOL was used in a multicenter, observational study of healthy, term infants (N = 427), age 6 weeks at enrollment, in China. At Days 1 and 48, parents/guardians completed the ITQOL, the Short Form Health Survey (SF-12v2) and the Infant Gastrointestinal Symptom Questionnaire (IGSQ). ITQOL feasibility, reliability, ceiling/floor effects, concurrent validity and discriminatory validity were evaluated. Results Feasibility of administering the ITQOL was supported by strong response rates (> 97%) with < 1% missing items for all scales except physical abilities. Reliability was acceptable (Cronbach's alpha > 0.70) for all scales except Day 1 General Health (0.67). Floor effects were minimal (< 2%), except Day 1 physical abilities (7%). Ceiling effects increased from Days 1 to 48 across all scales. Concurrent validity was demonstrated by correlations between ITQOL infant-focused scales and IGSQ score (r = −0.20 to − 0.34, p < 0.001) and between parent-focused scales and SF-12v2 mental health composite (MCS) scores (r = 0.29–0.46, p < 0.001). ITQOL scales discriminated between infant subgroups based on illness-related outcomes (sick visits, adverse events) and between parent subgroups based on SF-12v2 MCS scores. Conclusion The Simplified Chinese version of the ITQOL performed well in a community-based sample of Chinese infants, with evidence supporting the instrument's feasibility, reliability, and validity. These data support the ITQOL as a valuable tool to assess HRQOL in Chinese infants.
from Health via xlomafota13 on Inoreader http://ift.tt/2E0ePQd
via IFTTT
Trends in Smoking and Smoking Cessation During Pregnancy from 1985 to 2014, Racial and Ethnic Disparity Observed from Multiple National Surveys
Abstract
Objective Current report assessed the trends in smoking prevalence and the percentage of smoking cessation during pregnancy among women from three major races/ethnicities. Methods Data were collected between 1999 and 2014 from the continuous National Health and Nutrition Examination Survey (NHANES). Smoking habits of women while pregnant with the child sampled by NHANES were assessed retrospectively. A total of 28,090 women who gave live birth between 1985 and 2014 were included. The prevalence ratios (PRs) of smoking and quitting smoking during pregnancy were calculated. The adjusted annual prevalence ratio (aaPR: the ratio associated with a 1-year increase in time) was estimated using logistic regression with the year of birth as a predictor. Results With child's race/ethnicity, gender, and mother's age controlled, the aaPR of smoking was 0.95 (95% confidence interval 0.92–0.97) for Hispanics, 0.96 (0.94–0.98) for whites, and 0.98 (0.94–1.00) for blacks. The aaPR of quitting smoking was 1.09 (1.02–1.16) for Hispanics, 1.01 (0.97–1.06) for whites, and 1.03 (0.95–1.12) for blacks. Compared with the counterparts aged 35 years or older, pregnant women younger than 20 years were more likely to smoke among whites [PR 1.56 (1.07–2.29)] but less likely among blacks [PR 0.37 (0.26–0.52)]. Conclusions for Practice Smoking prevalence has been declining continuously for all but at different rates among three major races/ethnicities. The risk profiles of smoking during pregnancy were race/ethnicity specific. Culturally appropriate programs should be developed to further reduce the maternal smoking during pregnancy.
from Health via xlomafota13 on Inoreader http://ift.tt/2nFf9IR
via IFTTT
A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family
Abstract
Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes molecular dissection of the disease more difficult. The present study was designed to characterize the underlying pathogenic variants of RP in Pakistan. For this purpose, a large consanguineous family with RP phenotype showing autosomal recessive mode of inheritance was selected after a complete ophthalmological examination. Next generation sequencing was used for the identification of molecular determinant followed by Sanger-sequencing for confirmation. After sequence analysis a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. The same mutation was not detected in the 200 ethnically-matched control samples by Sanger sequencing. The identified mutant allele segregated in homozygous fashion in all the affected individuals of pedigree. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with RP phenotype. The findings of this study demonstrate the clinical significance of next generation sequencing to understand the molecular basis of diseases and would help to reveal new proteins and their function in visual cycle will pave the way for early diagnosis, genetic counseling and better therapeutic inventions.
from Genetics via xlomafota13 on Inoreader http://ift.tt/2BR0bEU
via IFTTT
Whiteboard Use in Labor and Delivery: A Tool to Improve Patient Knowledge of the Name of the Delivery Provider and Satisfaction with Care
Abstract
Introduction The impact of whiteboard use in labor rooms has not previously been studied. This quality improvement study aimed to evaluate patient knowledge of their delivering physician's name and the change in patient satisfaction after the implementation of a whiteboard in labor rooms. Methods A multidisciplinary team designed a dry-erase whiteboard prompting care providers to record their names, roles and patient care information. A questionnaire was administered to patients before and after the whiteboard implementation. Patients who had a planned cesarean or vaginal birth within 1 h of admission were excluded. Categorical variables were compared using Chi square and Fisher's exact tests. A multivariable logistic regression was performed to control for confounders. Results 191 patients completed the questionnaires. Although patients were not randomized, the pre-and post-intervention groups were similar. Post-intervention, we found a significant increase in recalling the delivery resident's name [21/101 (20.8%) vs. 33/90 (36.7%), p = 0.016] and a non-significant increase in recalling the name of the attending and nurse [19/101 (18.8%) vs. 23/90 (25.6%), p = 0.296; 46/101 (45.5%) vs. 53/90 (58.9%), p = 0.082]. Post-intervention, patient satisfaction with care was significantly higher [83/101 (82.2%) vs. 83/89 (93.3%), p = 0.028]. Knowledge of the delivery resident's name was associated with higher patient satisfaction [115/137 (84%) vs. 51/53 (96%), p = 0.03] and attendance of the postpartum care visit [50.4% (69/137) vs. 64.8% (35/54), p = 0.049]. Discussion The use of a well-designed whiteboard increases laboring patients' knowledge of their delivery physician's name and may improve patient satisfaction with care on Labor and Delivery.
from Health via xlomafota13 on Inoreader http://ift.tt/2nE0ZYJ
via IFTTT
Higher Birthweight and Maternal Pre-pregnancy BMI Persist with Obesity Association at Age 9 in High Risk Latino Children
Abstract
Childhood obesity is increasing especially in Latinos and early intervention is essential to prevent later obesity complications. Latino children (n = 201) recruited at two San Francisco hospitals were assessed at birth including infant anthropometrics and feeding practices and followed to age 9 with annual anthropometric assessments. We evaluated the relationship between perinatal risk factors and obesity at age 9 and chronic obesity (obesity at both 5 and 9 years). Higher birthweight [odds ratio (OR) 2.48, 95% confidence interval (CI) 1.06–5.81] and maternal pre-pregnancy body mass index (BMI) (OR 1.09, 95% CI 1.00–1.18) were associated with increased risk for obesity at 9 years. Higher maternal pre-pregnancy BMI (OR 1.10, 95% CI 1.01–1.20) was associated with chronic obesity. Additionally, prenatal depression symptoms were protective (OR 0.33, 95% CI 0.11–0.94) against chronic obesity. We found no association between maternal age and education, exclusive breastfeeding at 4–6 weeks, rapid infant weight gain, and obesity or chronic obesity. Perinatal risk factors for obesity including higher birthweight and maternal pre-pregnancy BMI persisted until age 9, whereas, other variables significant at age 5 in our cohort and other populations including exclusive breastfeeding and rapid infant weight gain were no longer associated with increased risk.
from Health via xlomafota13 on Inoreader http://ift.tt/2DZGxbp
via IFTTT