Publication date: September 2016
Source:Journal of Environmental Radioactivity, Volume 161
Author(s): N. Zarubina
Levels of soil contamination with 137Cs, the belonging of fungi to a certain ecological group, the localization depth of the main part of mycelium in soil are the primary factors influencing the value of 137Cs specific activity in higher fungi after the accident at Chernobyl NPP. It has been found that the value of 137Cs specific activity in fungi of one species could vary by more than 10 times during a vegetation period. A correlation between the changes of 137Cs content in fungi during the vegetation period and the amount of precipitates during various periods preceding the collection of samples has not been determined. An assumption has been proposed stating dependence between peculiarities of mycelium growth during the vegetation period and the changes of 137Cs specific activity in fungi.
from Radiology via xlomafota13 on Inoreader http://ift.tt/1Zc3iNx
via IFTTT
Τρίτη 31 Μαΐου 2016
The influence of biotic and abiotic factors on 137Cs accumulation in higher fungi after the accident at Chernobyl NPP
The transfer of radiocesium from the bark to the stemflow of chestnut trees (Castanea crenata) contaminated by radionuclides from the Fukushima Dai-ichi nuclear power plant accident
Publication date: September 2016
Source:Journal of Environmental Radioactivity, Volume 161
Author(s): Yoshito Sasaki, Hironobu Abe, Katsuaki Mitachi, Takayoshi Watanabe, Yasuo Ishii, Tadafumi Niizato
We report on the behavior of radiocesium in tree bark and its transfer into the stemflows of chestnut trees in a forest in the Fukushima Prefecture, Japan. In stems that were present at the time of the accident, the radiocesium concentration of the bark was found to be approximately 10 times that of the wood. The average 137Cs concentration of the dissolved fraction (<0.45 μm) in the stemflow was measured to be around 10 Bq/L. The 137Cs concentration ratio [present at the time of the accident (Bq/kg) in the bark/the dissolved fraction in the stemflow (Bq/L)] was approximately 103. A strong positive correlation was observed between the radiocesium concentration and the electrical conductivity of the dissolved fraction of the stemflow; this result suggests that radiocesium and electrolytes have the same elution mechanism from the tree. The size fractionation analysis of the <0.45 μm fraction through ultrafiltration revealed that the radiocesium was present as an almost dissolved species. Some of the particles in the particulate fraction (>0.45 μm) of the stemflow were strongly adsorbed radiocesium.
from Radiology via xlomafota13 on Inoreader http://ift.tt/1VuNsP0
via IFTTT
A database of radionuclide activity and metal concentrations for the Alligator Rivers Region uranium province
Publication date: October 2016
Source:Journal of Environmental Radioactivity, Volumes 162–163
Author(s): Che Doering, Andreas Bollhöfer
This paper presents a database of radionuclide activity and metal concentrations for the Alligator Rivers Region (ARR) uranium province in the Australian wet-dry tropics. The database contains 5060 sample records and 57,473 concentration values. The data are for animal, plant, soil, sediment and water samples collected by the Environmental Research Institute of the Supervising Scientist (ERISS) as part of its statutory role to undertake research and monitoring into the impacts of uranium mining on the environment of the ARR. Concentration values are provided in the database for 11 radionuclides (227Ac, 40K, 210Pb, 210Po, 226Ra, 228Ra, 228Th, 230Th, 232Th, 234U, 238U) and 26 metals (Al, As, Ba, Ca, Cd, Co, Cr, Cu, Fe, Hg, K, Mg, Mn, Na, Ni, P, Pb, Rb, S, Sb, Se, Sr, Th, U, V, Zn). Potential uses of the database are discussed.
from Radiology via xlomafota13 on Inoreader http://ift.tt/1Zc2NTU
via IFTTT
Editorial board
Publication date: September 2016
Source:Journal of Environmental Radioactivity, Volume 161
from Radiology via xlomafota13 on Inoreader http://ift.tt/1VuMRNo
via IFTTT
Characteristics of initial deposition and behavior of radiocesium in forest ecosystems of different locations and species affected by the Fukushima Daiichi Nuclear Power Plant accident
Publication date: September 2016
Source:Journal of Environmental Radioactivity, Volume 161
Author(s): Masabumi Komatsu, Shinji Kaneko, Shinta Ohashi, Katsushi Kuroda, Tetsuya Sano, Shigeto Ikeda, Satoshi Saito, Yoshiyuki Kiyono, Mario Tonosaki, Satoru Miura, Akio Akama, Takuya Kajimoto, Masamichi Takahashi
After the Fukushima Daiichi Nuclear Power Plant (FDNPP) accident, information about stand-level spatial patterns of radiocesium initially deposited in the surrounding forests was essential for predicting the future dynamics of radiocesium and suggesting a management plan for contaminated forests. In the first summer (approximately 6 months after the accident), we separately estimated the amounts of radiocesium (134Cs and 137Cs; Bq m−2) in the major components (trees, organic layers, and soils) in forests of three sites with different contamination levels. For a Japanese cedar (Cryptomeria japonica) forest studied at each of the three sites, the radiocesium concentration greatly differed among the components, with the needle and organic layer having the highest concentrations. For these cedar forests, the proportion of the 137Cs stock in the aboveground tree biomass varied from 22% to 44% of the total 137Cs stock; it was 44% in highly contaminated sites (7.0 × 105 Bq m−2) but reduced to 22% in less contaminated sites (1.1 × 104 Bq m−2). In the intermediate contaminated site (5.0–5.8 × 104 Bq m−2), 34% of radiocesium was observed in the aboveground tree biomass of the Japanese cedar stand. However, this proportion was considerably smaller (18–19%) in the nearby mixed forests of the Japanese red pine (Pinus densiflora) and deciduous broad-leaved trees. Non-negligible amounts of 134Cs and 137Cs were detected in both the sapwood and heartwood of all the studied tree species. This finding suggested that the uptake or translocation of radiocesium had already started within 6 months after the accident. The belowground compartments were mostly present in the organic layer and the uppermost (0–5 cm deep) mineral soil layer at all the study sites. We discussed the initial transfer process of radiocesium deposited in the forest and inferred that the type of initial deposition (i.e., dry versus wet radiocesium deposition), the amount of rainfall after the accident, and the leaf biomass by the tree species may influence differences in the spatial pattern of radiocesium by study plots. The results of the present study and further studies of the spatial pattern of radiocesium are important for modeling future radiocesium distribution in contaminated forest ecosystems.
from Radiology via xlomafota13 on Inoreader http://ift.tt/1Zc2SqE
via IFTTT
Neurons that Underlie Drosophila melanogaster Reproductive Behaviors: Detection of a Large Male-Bias in Gene Expression in Fruitless-Expressing Neurons
Male and female reproductive behaviors in Drosophila melanogaster are vastly different, but neurons that express sex-specifically spliced fruitless transcripts (fru P1) underlie these behaviors in both sexes. How this set of neurons can generate such different behaviors between the two sexes is an unresolved question. A particular challenge is that fru P1-expressing neurons comprise only 2-5% of the adult nervous system, and so studies of adult head tissue or whole brain may not reveal crucial differences. Translating Ribosome Affinity Purification (TRAP) identifies the actively translated pool of mRNAs from fru P1-expressing neurons allowing a sensitive, cell-type-specific assay. We find four times more male-biased than female-biased genes in TRAP mRNAs from fru P1-expressing neurons. This suggests a potential mechanism to generate dimorphism in behavior. The male-biased genes may direct male behaviors by establishing cell fate in a similar context of gene expression observed in females. These results suggest a possible global mechanism for how distinct behaviors can arise from a shared set of neurons.
from Genetics via xlomafota13 on Inoreader http://ift.tt/1TWw2sh
via IFTTT
To compare and evaluate the anti-inflammatory efficacy of terminalia arjuna (aqueous extract of bark) with diclofenac sodium on rats
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Maninder Singh Rana, Rani Walia, Alok Dixit, Kaustubh Raina.
Background: Terminalia arjuna is a well-known Indian medicinal plant whose bark is extensively used in ayurvedic medicine. It is one of the most versatile medicinal plants having a wide spectrum of biological activity. The objective of this study was to study and evaluate the anti-inflammatory activity of Terminalia arjuna on carragennan induced paw edema in sprague dwaley rats. Methods: Terminalia arjuna aqueous extract of bark in 200, 400 and 800mg/kg doses were administered to sprague dawely rats prior to induction of carrageenan induced paw edema. Statistical analysis: was done by using student t test. P
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1cNys
via IFTTT
Comparison of efficacy of telmisartan with losartan in patients of essential hypertension with cognitive impairment
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Nitin Natthuji Puram, Vitthal Baburao Karande, Jaiprakash Bharma Ramanand, Sunita Jaiprakash Ramanand, Nimish Ravindra Halasawadekar, Rama Rangnathrao Bhosale.
Background: Hypertension can lead to mild to moderate alteration in the brain structure and function including cognitive functions impairments. Many first line antihypertensive drugs are devoid of producing significant improvement in cognitive functions; in fact some of them worsen cognitive function. Data suggests that angiotensin II receptor antagonist slows the progression of cognitive impairment associated with hypertension. Hence present study was planned to compare the efficacy of telmisartan with losartan in hypertensive patients with cognitive impairment. Methods: Prospective, randomized, single blind, comparative study was conducted for period of 24 weeks. Study population was enrolled into two groups: group A (losartan 50 mg) and group B (telmisartan 20 mg). Cognitive functions were assessed by mini mental status examination and trail making test part-A. Qualitative data were analysed by using Fischers test and quantitative data was analysed by using t test. Results: Baseline clinical characteristics of patients receiving losartan and telmisartan did not show significant difference Telmisartan was as effective as losartan in lowering systolic and diastolic blood pressure in patients of essential hypertension. Increase in mini mental status examination score appeared similar in both groups and there was no statistically significant difference (p>0.05) between the two groups at 12 and 24 weeks of therapy. Reduction in trail making test part A score was slightly more among patient receiving losartan but on comparison of two groups reduction in trail making test part A score was not statistically significant (p>0.05) at 12 and 24 weeks of therapy. Conclusions: Telmisartan is as effective as losartan in controlling blood pressure and improving cognitive function in hypertensive patients with cognitive impairment.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Za0j8i
via IFTTT
Glycemic control and cost-effectiveness attained by the drug utilization of oral antidiabetic agents in a tertiary care hospital in South India
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Nirmal George, Ajith Kumar PV, Vijayalekshmi Amma S..
Background: Diabetes mellitus require lifelong intervention and Kerala has high prevalence. New expensive agents require comparison with existing regimens for cost-effectiveness. Methods: Socio-demographic, anthropometric, FPG and HbA1C (baseline and post treatment) of 150 patients (73 men; 77 women) were obtained from records using standard case report forms in our retrospective study. ANOVA and paired t test were used for between groups and within group comparison. Results: Metformin was maximum utilized (DDD/1000/day-252.39). All treatment regimens produced significant reduction in FPG (except metformin monotherapy) and HbA1C (except metformin sulfonylurea α-glucosidase inhibitor DPP-4 inhibitor combination). When compared to metformin sulfonylurea pioglitazone combination (best therapy), other regimens were less cost effective in reducing FPG and metformin sulfonylurea α-glucosidase inhibitor DPP-4 inhibitor was more effective and expensive in reducing HbA1C. Conclusions: High prescription rates of metformin were due to its action on insulin resistance and weight. Addition of pioglitazone was cost effective and DPP-4 inhibitor was expensive but effective.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1cxzL
via IFTTT
Awareness about generic drug prescription amongst practitioners: a knowledge attitude practice survey at rural set up
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Jyoti Ramchandra Patil, Swapnil Chudaman Jaykare, Vijay Motiram Motghare, Sudhir Laxmanrao Padwal, Vinod Shivajirao Deshmukh.
Background: to evaluate the knowledge, attitude and practices regarding generic drugs prescription and the factors influencing it amongst practitioners at a rural set up. Methods: All the practitioners in the town, at both government and private settings were interviewed individually and the data was collected with the help of a self-administered, pre-validated and semi-structured questionnaire. Data were analysed to describe all variables and test any significant difference between the practitioners at government and private set-up. Results: The study included 97 practitioners from different affiliations with a response rate of 87.63%. Our survey showed that most of the practitioners (74.36%) were in favour of generic drugs substitution owing to their knowledge about generics. Majority of the practitioners (69.10%) were aware that both the brand and generic drugs are bioequivalent and that there exits significant price difference between them, yet, concerns regarding the manufacturing standards of the latter, prevented them from practicing generic substitution. Practitioners did not report a significant pressure from patients to prescribe either brand or generic drugs. Most practitioners (76.92%) had a positive attitude towards the governments role in assuring the quality of generic drugs by improving manufacturing standards of these drugs. Conclusions: Although the practitioners were strongly in favour of generic substitution, concern regarding their quality standards is discouraging them from doing the same. The government can play a major role by improving the standard operating procedures for manufacturing the generic drugs thereby assuring the practitioners about their quality.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Z9ZYm7
via IFTTT
Open label study to assess the safety and efficacy of cinacalcet in refractory hyperparathyroidism with chronic renal failure
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Reema Thottol, M. Sreelatha, PV Narayanan.
Background: Secondary hyperparathyroidism a common consequence of chronic kidney disease is associated with many complications like renal osteodystrophy, vascular and soft tissue calcification. This study is to assess the safety and efficacy of Cinacalcet a calcimimetic drug in patients with refractory hyperparathyroidism due to chronic renal failure. Methods: Patients with chronic kidney disease stage 5 on maintenance haemodialysis diagnosed to have refractory hyperparathyroidism who do not attain the target range for hyper-parathyroid indicators serum PTH ≤300, Serum Ca (8.4-9.5), serum phosphorous (3.5-5.5) with the use of calcitriol and phosphate binders were included in the study. Twenty patients satisfying the case definition of refractory hyperparathyroidism due to chronic renal failure received 30mg Cinacalcet therapy. Total duration of treatment was 6 weeks. Standard serum calcium, serum phosphorous, PTH was assessed before and after 6 weeks. Results: Cinacalcet significantly reduces serum PTH level when results were compared by paired t test. P=0.016 0.05, serum phosphorous P=0.132>0.05. In this study after overall assessment. Conclusions: Cinacalcet is more efficacious and safe in treating refractory hyperparathyroidism due to chronic renal failure.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1cNhW
via IFTTT
Comparative evaluation of H1 receptor blocking activity and safety of newer H1antagonist mizolastine with loratadine and placebo: a randomized double blind three way crossover study
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
K. Swarnalatha, S. Sharon Sonia, C. Prabahkar Reddy, Ramesh Kumar Rao, M. U. R Naidu.
Background: Histamine is a naturally occurring body constituent synthesized from L-histidine by histidine decarboxylase enzyme that is expressed throughout the body including central nervous system neurons, gastric mucosa, mast cells and basophils. The objective of this study was to compare the pharmacological activity and safety of 10 mg mizolastine, 10 mg loratadine and placebo in healthy human volunteers. Methods: After randomly allocating the 3 drugs, a battery of psychometric tests was done. Histamine prick test for wheal and flare reaction, VAS for sedation and itch followed by salivary flow test were done. Vitals were recorded. The subjects were randomized to receive either of the treatment in a cross-over manner with washout period of 7 days. The wheal and flare areas were recorded before and after 1,2,4,8, and 24 hours. Results: Mean inhibition on histamine induced wheal and flare response with mizolastine was highly significant as compared to placebo from 1 hour onwards (p
from Scope via xlomafota13 on Inoreader http://ift.tt/1Za0ccU
via IFTTT
A prospective study, to determine adverse effects of anti-retroviral agents in rural tertiary care teaching hospital
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Swapnil Chudaman Jaykare, Jyoti Ramchandra Patil, Vijay Motiram Motghare, Sudhir Laxmanrao Padwal, Vinod Shivajirao Deshmukh, Harshal Nutanrao Pise.
Background: Acquired immunodeficiency syndrome (AIDS) is a disease of the human immune system caused by the human immunodeficiency virus (HIV). Objective of this study was to evaluate the adverse drug reaction profile of anti-retroviral drugs in HIV patients in terms of causality, severity and preventability. Methods: Patients newly started on ART were followed prospectively for a period of initial six months and were interviewed in person during their routine follow-up or visit following development of any ADRs. ADRs were screened clinically and investigated accordingly for causality, severity and preventability. Results: Out of 59 cases, zidovudine+lamivudine+nevirapine (ZLN) was the most commonly used ART regimen. A total 122 ADRs involving various systems were observed in these patients; majority being related to gastrointestinal system (54.10%). Most of these ADRs were observed in the ZLN regimen followed by the stavudine+lamivudine+nevirapine (SLN) regimen. On causality assessment in ZLN regimen, 74.58% of ADRs were possible, while 25.42% were probable. Severity assessment showed that most of the ADR were mild whereas on preventability assessment it was observed that most of the ADRs were not-preventable. Conclusions: Antiretroviral drugs are not solely responsible for the ADRs due to these medications; various co-morbid and predisposing conditions share the responsibility. An efficient pharmacovigilance is imperative by means of improving ADR reporting and monitoring, in order to improve compliance and acceptability of ART.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1ctju
via IFTTT
Analysis of prescribing pattern of antihypertensive drugs during pregnancy and neonatal outcome in a tertiary care centre
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Soundarya Yamakanamardi, Anuradha HV, Sujani BK, Shivamurthy MC.
Background: Hypertensive disorders are the most common medical complications of pregnancy with an incidence of 2-8%. Maternal hypertension, even of the mild to moderate category, can lead to adverse perinatal outcomes like low birth weight, prematurity, stillbirth and intrauterine growth retardation. Though hypertension occurs up to 8% of pregnancies, yet information on the safety of antihypertensive medication use during pregnancy is limited. The objective of this study was to analyse the prescription pattern of antihypertensive drugs in pregnant woman and also to assess the neonatal outcome in pregnant woman on antihypertensive drugs. Methods: The retrospective study includes analysis of all the prescriptions from case records of hypertensive pregnant women till the delivery for one year. Results: Total number of 122 hypertensive pregnant patients was included in the study. Mean age of the patients was 25.8 years. 51.6% were primigravida. Most of them were diagnosed after 28±2 weeks of pregnancy. 54% were on monotherapy. Most commonly used drug was alpha methyl dopa followed by nifedipine. Out of 86.9% (n=106) live birth delivered; 29.2% were of low birth weight. Conclusions: All the prescriptions were prescribed rationally. Most of the prescriptions contain monotherapy with alpha methyl dopa which is considered to be safest antihypertensives in pregnancy.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Z9ZoER
via IFTTT
Treatment and prognostic assessment of acute myeloid leukemia
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Bannur Ramanna Nandeesh, Subramanya S. Mallikarjunappa.
Acute myeloid leukemia (AML) is a heterogeneous group of clonal malignant myeloid neoplasms. Malignant transformation of hematopoietic progenitor cell leads to clonal expansion and replacement of normal bone marrow cells with malignant cells leading to suppression of normal haematopoiesis. Advancements in our understanding of disease biology have allowed AML to be classified based on its gene expression profile, which includes previously identified cytogenetic subgroups, and distinct novel subgroups which have prognostic significance. Identification of mutations in DNMT3A and IDH 1 genes in cytogenetically normal AML (by gene sequencing) helps to identify patients with poor prognosis. Redesigning the treatment regimen consisting of cytarabine and daunorubicin has improved the treatment outcomes without increase in the treatment-related mortality. Increasing the dose of daunorubicin to 90 mg/m2 improves complete remission rates without increasing treatment-related complications both in young and elderly patients. Cytarabine (200 mg/m2 in cycle I and 2 g/m2 in cycle 2) is shown to be as effective as high dose cytarabine (1000 mg/m2 twice daily in cycle 1and 2 g/m2 twice daily in cycle 2) and is associated with less treatment-related toxicities.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1czYb
via IFTTT
Experimental evaluation of the anti-ulcer activity of the ethanolic extract of grape (Vitis vinifera) seed in wistar albino rats against aspirin plus pylorus ligation induced gastric ulcer model
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Anand M. Ingale, Venkata Bharat Kumar Pinnelli, Vijaya Rajendran.
Background: There is an increased demand for newer safer drugs for the treatment of peptic ulcer disease as its incidence is increasing gradually in view of changing lifestyle and stress. The objective of this study was to evaluate the anti-ulcer activity of ethanol extract of seeds of Vitis vinifera. Methods: The ethanol extract of Vitis vinifera was investigated for its anti-ulcer activity in rats against Aspirin plus Pylorus ligation induced gastric ulcer. The antiulcer activity was assessed by determining and comparing gastric volume, pH, free and total acidity; ulcer number and its inhibition, ulcer severity and ulcer index. Results: A significant antiulcer activity was observed. Pylorus ligation model showed significant (p
from Scope via xlomafota13 on Inoreader http://ift.tt/1Za04dF
via IFTTT
The effect of riluzole alone and in combination with sodium valproate on pentylenetetrazole induced seizures in swiss-albino rats
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Amol Ramrao Jadhav, Kiran Prabhakar Vakade, Bana Bihari Nayak, Vijayaprasad M. Sangisetti, Vijaykumar N. Abhavathi.
Background: Riluzole- a glutamate antagonist is known to enhance antiepileptic effects of various other antiepileptic drugs. The present study was undertaken to evaluate anticonvulsant effect of riluzole alone and in combination with sodium valproate on pentylenetetrazole (Metrazol) induced seizures in swiss-albino rats. Methods: Pentylenetetrazole (PTZ) 50 mg/kg intraperitonially (ip) was used to induce seizure in swiss- albino rats. Anticonvulsant effect of riluzole (at 5 mg/kg and 10 mg/kg) and sodium valproate (at 75 mg/kg, 150 mg/kg and 300 mg/kg) was studied on PTZ induced seizures in albino rats. Also effect of riluzole (10mg/kg) in combination with sodium valproate (75 mg/kg, 150 mg/kg and 300 mg/kg) was studied. Parameters such as time of onset of first clonic convulsion in seconds, frequency of clonic convulsion in 60 minute and total duration of entire convulsion in minutes were studied. For statistical analysis unpaired t test was used. Results: At 5 mg/kg and 10 mg/kg doses riluzole per se was not found to produce any significant effect in PTZ induced seizures (P>0.05). Sodium valproate at 300 mg/kg dose was found to produce significant antiepileptic effect (P0.05). Interestingly significant antiepileptic effect was noted with combination of riluzole (at 10 mg/kg) with sodium valproate at 150 mg/kg and 300 mg/kg dose (P
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1cx2D
via IFTTT
Antiepileptic drugs: newer targets and new drugs
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Vihang S. Chawan, Abhishek M. Phatak, Kalpesh V. Gawand, Sagar V. Badwane, Sagar S. Panchal.
Epilepsy is a common neurological disorder affecting 0.5-1% of the population in India. Majority of patients respond to currently available antiepileptic drugs (AEDs), but a small percentage of patients have shown poor and inadequate response to AEDs in addition to various side effects and drug interactions while on therapy. Thus there is a need to develop more effective AEDs in drug resistant epilepsy which have a better safety profile with minimal adverse effects. The United States food and drug administration (USFDA) has approved eslicarbazepine acetate, ezogabine, perampanel and brivaracetam which have shown a promising future as better AEDs and drugs like ganaxolone, intranasal diazepam, ICA- 105665, valnoctamide, VX-765, naluzotan are in the pipeline.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Z9ZVGX
via IFTTT
Orexin receptors: a journey through their discovery to the development of suvorexant, the new sleeping pill
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Anandabaskar Nishanthi, Mourouguessine Vimal, Selvarajan Sandhiya, Steven Aibor Dkhar.
Orexin (OX) neuropeptides acting through G-protein coupled OX1 and OX2 receptors are implicated in a variety of physiological roles including regulation of feeding, sleep-wake cycle, energy metabolism and reward pathways. Accumulating experimental evidence indicates that orexins are wake promoting neuropeptides and deficits in orexinergic neurotransmission leads to narcolepsy, a debilitating sleep disorder. This has led to a search for orexin receptor agonists for pharmacotherapy of narcolepsy. However, development of orexin receptor agonists are still in their infancy stage and it invokes further research to know whether it could turn into a reality. In addition, the role of orexin neuropeptides in promoting arousal and wakefulness has generated considerable interest in developing orexin receptor antagonists for treatment of insomnia. This quest was accomplished with the approval of suvorexant by United States food and drug administration in 2014. This remarkable discovery has opened a novel approach for treatment of insomnia through neuromodulation of orexin signaling. Hence this review focuses on the orexinergic system, their physiological action and potential role as pharmacological targets.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1ct2Y
via IFTTT
Treatment options for the specific phobias
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Jarnail Singh, Janardhan Singh.
Specific phobias are among the most common psychological problems both in men and women. For treatment of specific phobias, exposure-based therapy is the first choice followed by cognitive therapy, relaxation techniques and short-term pharmacotherapy. Long-term pharmacotherapy for specific phobias, is associated with adverse drug reactions and drug abuse, thus not a reasonable choice for long-term symptom control. Glucocorticoids and d-cycloserine (DCS) cause fear reduction when used in combination with exposure based therapy. Being a non-anxiolytic DCS accelerates fear reduction during exposure by facilitating memory consolidation during post-treatment phase. Adjuvant cortisol to exposure therapy also caused great reduction in fear in spider phobia.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Z9ZV9W
via IFTTT
A case study to know the level of awareness about pharmacogenomics and its clinical application among doctors of Lucknow, Uttar Pradesh, India
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Aditi Jhunjhunwala, Narendra Kumar, Rahul Kumar, Sarvesh Singh, Rakesh Kumar Dixit.
Background: Presently knowledge of pharmacogenomics is important for therapeutic purposes as well as for the prevention of many ADRs (adverse drug reactions). So this study was planned to know the level of awareness about pharmacogenomics and its clinical application among doctors of Lucknow, Uttar Pradesh, India. Methods: The study was done through a survey among 400 doctors by a questionnaire method. The questions were formulated to know the awareness and extent of knowledge of doctor. The answers were in yes and no and the data collected was calculated in percentage. Results: 79.75% doctors were well aware about pharmacogenomics. 13.0% doctors were not aware but wanted to know about it, while 7.25% of doctors were neither aware nor interested about pharmacogenomics. Conclusions: Most of the doctors were aware about the pharmacogenomics theoretically and they need to be updated about its clinical application in their practice by seminars, presentation and workshops.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1cxj2
via IFTTT
Titanium dioxide nanoparticles decreases activity of rat brain when administered prenatally
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Nikita Saraswat, Pranay Wal, Ankita Wal, Shikha Bajpai, Rituparna Palit.
Background: Titanium dioxide nanoparticles are widely used in the sunscreens, toothpastes, and cosmetic products that the human use daily. Previous reports have proved that the impact of nanomaterials on brain activity is not negligible, especially for the people working in nanomaterials manufacturing factories. We are using titanium dioxide in our daily life in cosmetics, food industry and many other pharmaceutical products. So to keep a check on the threat what these chemicals may cause, we conducted a research to study effect of titanium dioxide nanoparticles on rat brain. This research gave us an insight of the possible threats it can cause to brain. Methods: The effects of titanium dioxide nanoparticles on brain activity were reported. Our studies showed that titanium dioxide nanoparticles have a differential tendency towards neurons. To insight the possible effect on titanium dioxide nanoparticles on neurobehaviour we conducted a conditioned avoidance response study using shuttle box analysis. In the study we administered the drug titanium dioxide nanoparticles prenatally and observed its effects by neurobehaviour studies in progenies of wistar rat. Results: In the results we observed that titanium dioxide nanoparticles have caused a decreased learning and memory behaviours as compared to control groups. Conclusions: We studied the neurobehaviour of progenies, when the drug was administered to rat brain prenatally. The results showed that the titanium dioxide nanoparticles particles have decreased the brain activity of the rat brain by showing decreased brain activity in progenies also.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Z9ZEnA
via IFTTT
An intensive monitoring of adverse drug reaction in indoor patients of medicine department at tertiary care teaching hospital
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Nishita H. Darji, Shilpa Jadav, Chintan Doshi, Rutvij Hedamba, Rusva Mistry, Hiren Trivedi.
Background: Use of drugs itself may result into illness and death due to their adverse effects. In India 10-20% of inpatients developed adverse drug reactions. Most of these problems can be overcome by undertaking hospital based intensive monitoring. Objective of this study was to estimate the incidence and document the spectrum of ADRs in studied patients in terms of causality, severity, frequency, type and preventability. A prospective, observational, single centre study conducted among the indoor patients of the department of general medicine, Guru Gobind singh government hospital, Jamnagar over a period of 12 months. Methods: Admitted patients who either had developed a clinically suspected ADR after admission (group A) or were admitted primarily because of an ADR (group B) were included. In all ADR related patients the necessary data was recorded on a pre-designed case record form, NCC-PvPI form and analysis was done. Results: Total 3566 patients were screened. 87 patients had 101 ADRs, among them 62 from group A and 25 from group B with 2.44% incidence. In causality, by WHO-UMC and by naranjo scale most common probable category in group A (54.7%) and group B (50%) and 89.9% group A and 84.6% in group B respectively.95.05% ADRs were Not preventable. Hartwig seigles scale maximum ADRs 65.4% ADRs in group A and 73.1% in group B were moderate in severity. Conclusions: Intercurrent illness, longer hospital stay and poly pharmacy was playing a major role in occurrence of multiple ADRs with 2.44% incidence in our setup.
from Scope via xlomafota13 on Inoreader http://ift.tt/1O1cxzE
via IFTTT
Innovations in existing routes and novel drug delivery systems for local anaesthetics
2016-05-31T03-23-57Z
Source: International Journal of Basic & Clinical Pharmacology
Diwanshu Sharma, Anshu Gupta.
New drug delivery systems (NDDS) are developed for improvement in efficacy of the drugs, provide maximum benefit to the patient and to minimize the adverse drug reactions. For local anaesthetics (LAs), the development of new effective delivery systems modulate the release rate, extend their anaesthetic effect , and helps to enhance their localisation as desired. The various routes of local anaesthetic delivery (epidural, peripheral, wound catheters, intra-nasal, intra-vesical, intra-articular, intra-osseous) are under innovation these days. Different methods such as include iontophoresis, electroporation, sonophoresis, and magnetophoresis are being used to enhance local anaesthetic permeation. Adjuvants are added to potentiate drug effects. The use of different delivery systems should help to keep the LA at the target site for longer periods prolonging the anesthetic or analgesic effect with an extended range of agents.
from Scope via xlomafota13 on Inoreader http://ift.tt/1Z9ZL2l
via IFTTT
Group III/IV muscle afferents limit the intramuscular metabolic perturbation during whole body exercise in humans
To investigate the role of metabo- and mechanosensitive group III/IV muscle afferents in limiting the intramuscular metabolic perturbation during whole body endurance exercise, eight subjects performed 5-km cycling time trials under control conditions (CTRL) and with lumbar intrathecal fentanyl impairing lower limb muscle afferent feedback (FENT). Vastus lateralis muscle biopsies were obtained before and immediately after exercise. Motoneuronal output was estimated through vastus lateralis surface electromyography (EMG). Exercise-induced changes in intramuscular metabolites were determined using liquid and gas chromatography-mass spectrometry. Quadriceps fatigue was quantified by pre- to post-exercise changes in potentiated quadriceps twitch torque (ΔQTsingle) evoked by electrical femoral nerve stimulation. Although motoneuronal output was 21 ± 12% higher during FENT compared to CTRL (P < 0.05), time to complete the time trial was similar (∼8.8 min). Compared to CTRL, power output during FENT was 10 ± 4% higher in the first half of the time trial, but 11 ± 5% lower in the second half (both P < 0.01). The exercise-induced increase in intramuscular inorganic phosphate, H+, adenosine diphosphate, lactate, and phosphocreatine depletion was 55 ± 30%, 62 ± 18%, 129 ± 63%, 47 ± 14% (P < 0.001), and 27 ± 14% (P < 0.01) greater in FENT than CTRL. ΔQTsingle was greater following FENT than CTRL (−52 ± 2 vs −31 ± 1%, P < 0.001) and this difference was positively correlated with the difference in inorganic phosphate (r2 = 0.79; P < 0.01) and H+ (r2 = 0.92; P < 0.01). In conclusion, during whole body exercise, group III/IV muscle afferents provide feedback to the CNS which, in turn, constrains motoneuronal output to the active skeletal muscle. This regulatory mechanism limits the exercise-induced intramuscular metabolic perturbation, preventing an abnormal homeostatic challenge and excessive peripheral fatigue.
This article is protected by copyright. All rights reserved
from Physiology via xlomafota13 on Inoreader http://ift.tt/1TUygcY
via IFTTT
Impairment of chemical clearance and mucosal integrity distinguishes hypersensitive esophagus from functional heartburn
Abstract
Background
Hypersensitive esophagus (HE) is defined by endoscopy-negative heartburn with a normal acid exposure time but positive symptom association probability (SAP) and/or symptom index (SI) on impedance–pH monitoring, and proton pump inhibitor (PPI) responsiveness. Functional heartburn (FH) is distinguished by negative SAP/SI and PPI refractoriness. The clinical value of SAP and SI has been questioned. We aimed to investigate whether impairment of chemical clearance and of mucosal integrity, expressed by the postreflux swallow-induced peristaltic wave (PSPW) index and the mean nocturnal baseline impedance (MNBI), characterize HE independently of SAP and SI.
Methods
Impedance–pH tracings from PPI-responsive endoscopy-negative patients, 125 with nonerosive reflux disease and 108 with HE, distinguished by an abnormal and a normal acid exposure time, and from 70 patients with FH were retrospectively selected and blindly reviewed.
Results
The mean PSPW index and MNBI were significantly lower in nonerosive reflux disease (30 %, 1378 Ω) than in HE (51 %; 2274 Ω) and in both of them as compared with FH (76 %; 3445 Ω) (P = 0.0001). Both the PSPW index (adjusted odds ratio 0.863, P = 0.001) and the MNBI (adjusted odds ratio 0.998, P = 0.001) were independent predictors of HE; with their combined assessment, the area under the curve on receiver operating characteristic analysis was 0.957. SAP and/or SI was positive in 67 of the 108 HE patients (62 %), whereas the PSPW index and/or MNBI was abnormal in 99 of the 108 HE patients (92 %; P < 0.0001).
Conclusions
HE is characterized by impairment of chemical clearance and mucosal integrity, which explains the increased reflux perception. When SAP and SI afford uncertain results, the PSPW index and MNBI should be analyzed.
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1sHsYXI
via IFTTT
A Six (6) Month Survey of Gross Pathological Conditions of Slaughtered Cattle at Yola Abattoir Adamawa State, Nigeria
2016-05-31T02-34-45Z
Source: International Journal of Livestock Research
Mohammed Baba Ardo, Shadrach Kevin Ndyakalah, Haruna Lawal.
A cross sectional study was conducted from November, 2014 to April, 2015 on 14,508 slaughtered cattle at Yola abattoir Adamawa State on Postmortem examination. The objectives of the study were to determine the prevalence of Contagious Bovine PleuroPneumonia (CBPP), Bovine Fasciolosis and Bovine Tuberculosis (BTB) in slaughtered cattle according to sex and breeds. A regular visit was made to the Yola Abattoir at 6:00 AM Seven (7) times a week and this was done for Six (6) Months. A total of 14,508 slaughtered cattle were examined at postmortem and 3,418 (23.56%) cases were recorded; CBPP 898 (6.19%), Fasciolosis 1,100 (7.58%) and TB 1,420 (9.79%). There was Statistical significance (P
from Scope via xlomafota13 on Inoreader http://ift.tt/25w9WCa
via IFTTT
Building operative care capacity in a resource limited setting: The Mongolian model of the expansion of sustainable laparoscopic cholecystectomy
Surgery
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WW3lPA
via IFTTT
Marijuana use is not associated with progression to advanced liver fibrosis in HIV/HCV coinfected women
Clinical Infectious Diseases
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwpba
via IFTTT
Non-hematopoietic effects of endogenous erythropoietin on lean mass and body weight regulation
Obesity
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WW3faC
via IFTTT
Efficacy of sofosbuvir plus ribavirin in veterans with hepatitis C virus genotype 2 infection, compensated cirrhosis, and multiple comorbidities
Clinical Gastroenterology and Hepatology
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwcEV
via IFTTT
Dual-energy CT with iodine quantification in distinguishing between bland and neoplastic portal vein thrombosis in patients with hepatocellular carcinoma
Clinical Radiology
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WW2uhW
via IFTTT
Successful retreatment of HCV in patients coinfected with HIV who failed 12 weeks of ledipasvir/sofosbuvir
Clinical Infectious Diseases
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwiML
via IFTTT
Could the immune response in the sentinel lymph nodes of gastric cancer patients be the key to tailored surgery?
Surgery
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WW2U87
via IFTTT
Serum level of trefoil factor 2 can predict the extent of gastric spasmolytic polypeptide-expressing metaplasia in the H. pylori-infected gastric cancer relatives
Helicobacter
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZw9sD
via IFTTT
Determinants of outcomes following resection for pancreatic cancer--A population-based study
Journal of Gastrointestinal Surgery
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1O15CX4
via IFTTT
Incidence of neutropenia in patients receiving either nab-paclitaxel plus gemcitabine or FOLFIRINOX as first-line treatment for metastatic pancreatic adenocarcinoma
Value in Health
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwhsg
via IFTTT
The Impact of maternal obesity and race/ethnicity on perinatal outcomes: Independent and joint effects
Obesity
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1O15A1C
via IFTTT
Nissen fundoplication for laryngopharyngeal reflux after patient selection using dual pH, full column impedance testing: A pilot study
Annals of Otology, Rhinology & Laryngology
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwbRn
via IFTTT
Ferric maltol therapy for iron deficiency anaemia in patients with inflammatory bowel disease: Long-term extension data from a Phase 3 study
Alimentary Pharmacology and Therapeutics
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1O15Hdv
via IFTTT
Impairment of chemical clearance and mucosal integrity distinguishes hypersensitive esophagus from functional heartburn
Journal of Gastroenterology
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwoUK
via IFTTT
Long-term surveillance is necessary after operative resection for intraductal papillary mucinous neoplasm of the pancreas
Surgery
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1O15DdM
via IFTTT
FGFR2 in gastric cancer: Protein overexpression predicts gene amplification and high H-index predicts poor survival
Modern Pathology
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZwbko
via IFTTT
Should oral contrast be omitted in patients with suspected appendicitis?
Journal of Gastrointestinal Surgery
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1O15HtW
via IFTTT
Estimation of incidence of pancreatic cancer by state and by age group in the United States
Value in Health
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZws6Z
via IFTTT
Cost-effectiveness comparison of prophylactic octreotide and pasireotide for prevention of fistula after pancreatic surgery
Langenbeck's Archives of Surgery
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1O15rer
via IFTTT
Next-generation sequencing of matched primary and metastatic rectal adenocarcinomas demonstrates minimal mutation gain and concordance to colonic adenocarcinomas
Archives of Pathology & Laboratory Medicine
from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1qZw73Z
via IFTTT
Methotrexate induced chronic hepatotoxicity
2016-05-31T00-28-17Z
Source: International Journal of Basic & Clinical Pharmacology
Hemalatha Thiyagarajan, Seema P. Mohamed Ali, Karunai Kadhir Veluchamy.
55 year old male patient diagnosed to have psoriasis 2.5 years ago and was started on methotrexate 5 mg thrice weekly. Patient was symptomatically better and continued methotrexate without proper follow up. 2 months ago patient experienced abdominal pain and distension. Skin lesions worsened on discontinuing methotrexate but later subsided with treatment. 1 week ago, patient had abdominal pain, bleeding and ascites. Cumulative dose of methotrexate 1.8g; Liver function tests: total bilirubin- 2.0; direct - 1.0; platelet count: 58,000 cells/cu.mm; ascitic tap done and fresh frozen plasma was infused.
from Scope via xlomafota13 on Inoreader http://ift.tt/1sp5uqs
via IFTTT
Amoxycillin and clavulanic acid induced Stevens-Johnson syndrome: a case report
2016-05-31T00-28-17Z
Source: International Journal of Basic & Clinical Pharmacology
Ravi Shankar Manchukonda, Chandrakantha Thippeswamy, Neha Krishnegowda, Narasimhamurthy Kalenahally Muthahanumaiah.
Stevens-Johnson syndrome (SJS) is an immune complex mediated hypersensitivity complex that typically involves the skin and the mucous membranes. Various etiologic factors (e.g., infection, drugs and malignancies) have been implicated as causes of Stevens-Johnson syndrome. However, as many as half of the cases are idiopathic. Bastuji and Roujeau proposed that the denomination of Stevens-Johnson syndrome should be used for a syndrome characterized by mucous membrane erosions and widespread small blisters that arise on erythematous or purpuric maculae that are different from classic targets. In this case report, a 6 year old girl who was administered a cough syrup (containing bromhexine, guaiphenesin, diphenhydramine and phenylephrine) and amoxycillin and clavulanic acid dispersible tablet for the treatment of cough developed pruritic skin eruptions all over the body along with painful erosions on the tongue, buccal mucosa, genital and anal mucosa. A diagnosis of Stevens-Johnson syndrome was made. Amoxycillin and clavulanic acid combination was identified as the culprit based on the temporal relationship between the drug administration and the appearance of the rashes and based on a number of SJS reports implicating amoxycillin and clavulanic acid having been published before. The cough syrup and amoxycillin and clavulanic acid combination tablets were immediately stopped. Symptomatic treatment was administered. The child improved and was later discharged. Causality assessment using Naranjo adverse drug reaction probability scale revealed that amoxycillin and clavulanic acid combination was a possible cause for the harmful cutaneous adverse reaction with a score of 4.
from Scope via xlomafota13 on Inoreader http://ift.tt/1UqBinV
via IFTTT
Proteinase 3-antineutrophil cytoplasmic antibody positive necrotizing vasculitis induced by ciprofloxacin
2016-05-31T00-28-17Z
Source: International Journal of Basic & Clinical Pharmacology
Khalid Ahmed, Syeda Atia Qudsia, Syed Hani Abidi, Rabia Malik, Muhammad Awais, Abdul Rehman.
Granulomatosis with polyangiitis (Wegeners), microscopic polyangitis, and eosinophilic granulomatosis with polyangiitis are commonly grouped together as antineutrophil cytoplasmic antibody (ANCA)-positive vasculitides. Many drugs and infections can induce serologic positivity for ANCA, while a few can precipitate overt ANCA-positive vasculitis. Although fluoroquinolones have been reported to cause ANCA-negative leukocytoclastic vasculitis (LCV), fluoroquinolones are not known to induce proteinase 3-ANCA (PR3-ANCA)-positive vasculitis. Here, we present the case of a middle-aged man who developed severe headache, purpura on legs and numbness in hands and feet after taking ofloxacin for 5 days. Subsequently, he was diagnosed with ANCA-negative LCV and treated with steroids and immunosuppressants. Thirteen years later, he inadvertently received intravenous ciprofloxacin and developed severe headache and epistaxis. Serologic testing at that time revealed elevated titers of PR3-ANCA. Biopsy of nasal septum revealed a mixed mononuclear and polymorphonuclear infiltrate without evidence of granuloma formation. He was treated with steroids and immunosuppressive therapy. Over the next several years, he remained stable with residual hearing loss and nasal septal deformity. This case provides the first evidence for a PR3-ANCA-positive necrotizing vasculitis induced by ciprofloxacin.
from Scope via xlomafota13 on Inoreader http://ift.tt/1sp56bw
via IFTTT
Phenytoin induced drug rash with eosinophilia and systemic symptoms syndrome: a case report
2016-05-31T00-28-17Z
Source: International Journal of Basic & Clinical Pharmacology
Yogesh Devaraj, Sathyanarayana Dasegowda Belagola, Ranga Swaroop Mukunda, Ravi Shankar Manchukonda, Puneetha Basavanaik, Aneesa K. Hasanabba, Priyanka Kumari.
DRESS syndrome (drug rash with eosinophilia and systemic symptoms) is a severe adverse drug reaction characterised by rash, fever, lymphadenopathy and internal organ involvement. Although the death rate can reach 10%, rapid diagnosis and prompt withdrawal of the offending drug is the key to limit morbidity and mortality. The potential role of corticosteroids remains controversial. We report a case of a 45-year-old male patient who suffered a head injury, for which he was prescribed phenytoin. Five weeks later he developed features of DRESS syndrome including facial and peri-orbital oedema, generalized erythematous, maculo-papular rash, conjunctivitis, inguinal lymphadenopathy, leucocytosis, eosinophilia and elevated liver enzymes. Skin biopsy revealed acanthosis and spongiosis of epidermis and dense inflammatory cell infiltrate comprising eosinophils and lymphocytes. In this case, causalty assessment using Naranjo adverse drug reaction probability scale showed that phenytoin was a probable cause for the adverse drug reaction (score-7). Phenytoin was immediately stopped and patient was treated with systemic corticosteroids. The patient improved dramatically within the next few days. Early recognition of symptoms of DRESS and immediate withdrawal of the offending drug followed by prompt treatment with corticosteroids and other supportive measures will ensure quick recovery and will avoid fatal outcomes.
from Scope via xlomafota13 on Inoreader http://ift.tt/1UqBzHB
via IFTTT
Steroid induced central serous retinopathy following follicular unit extraction in androgenic alopecia
2016-05-31T00-28-17Z
Source: International Journal of Basic & Clinical Pharmacology
Rakesh Tilak Raj, Rajnish Raj, Anuradha Raj.
Dermatologists for various conditions and procedures commonly use corticosteroids worldwide. The development of central serous retinopathy is a lesser known complication occurring in
from Scope via xlomafota13 on Inoreader http://ift.tt/1sp5hnt
via IFTTT
Lessons from non-canonical splicing
Nature Reviews Genetics. doi:10.1038/nrg.2016.46
Authors: Christopher R. Sibley, Lorea Blazquez & Jernej Ule
from Genetics via xlomafota13 on Inoreader http://ift.tt/25xCmiv
via IFTTT
Regulatory elements: Putting enhancers into context
Nature Reviews Genetics. doi:10.1038/nrg.2016.74
Author: Darren J. Burgess
from Genetics via xlomafota13 on Inoreader http://ift.tt/1qZfZj5
via IFTTT
Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome
Baraitser–Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this condition. Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations in ACTG1–four novel and two previously reported. Only one of seven patients was clinically diagnosed with this disorder and underwent ACTB/ACTG1 targeted sequencing, four patients were screened as a part of the large lissencephaly cohort and two were tested with exome sequencing. Retrospectively, facial features were compatible with the diagnosis but significantly milder than previously reported in four patients, and non-specific in one. The pattern of malformations of cortical development was highly similar in four of six patients with available MRI images and encompassed frontal predominant pachygyria merging with the posterior predominant band heterotopia. Two remaining patients showed mild involvement consistent with bilaterally simplified gyration over the frontal lobes. Taken together, we expand the clinical spectrum of the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. © 2016 Wiley Periodicals, Inc.
from Genetics via xlomafota13 on Inoreader http://ift.tt/1O0GS1a
via IFTTT