2016-07-20T09-41-06Z
Source: International Journal of Medical Science and Public Health
Varsha Shah, Uresh Jain.
Background: Acute myocardial infarction (MI) in young patients, poses the unique problem to treat for physicians. For chest pain in young age group, physicians less likely to consider cardiac cause and may be misdiagnosed for other diseases. In addition, these patients may have different risk factor profiles, clinical presentations, and prognosis compared to older patients. Objective: To study the clinical profile of acute MI in young adults. Material and Methods: This was a cross-sectional prospective study carried out in patients aged ≤ 40 years and admitted to the hospital with a diagnosis of ACS. History collection, clinical examination, ECG, echocardiography, laboratory investigations were performed as a part of routine diagnosis and treatment for all the patients. The risk factors for MI were also recorded. Coronary angiography was performed in all patients. All the patients were given necessary treatment and they were followed up till the discharge from the hospital. These patients were also observed for development of any complication after the myocardial ischemia. Results: The mean age of the patients with acute MI was 35.00 ± 4.67 years, with a maximum number of patients (56, 52.34%) belong to the age of 3135 years. Majority of the patients (103, 96.26%) were male. The most common presenting symptom (91, 85.05%) was chest pain. One or more risk factors were found to be present in 78 (72.90%) study patients. Smoking was most common (35, 32.71%) risk factor for MI. Acute MI with ST segment elevation was present in 105 (98.13%) patients. Anterior wall MI was the commonest type seen on ECG (103, 96.26%). A majority of the patients (80, 74.77%) had single vessel disease. Cardiogenic shock was the commonest post-MI complication and contributed to all 5 deaths. Conclusion: Young MI is found to be more common in male gender. Smoking and diabetes mellitus found to be most common risk factors for MI. Education of patients about smoking cessation, control of diabetes, and also education about modification of other risk factors of young MI can serve as primary prevention for the disease.
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Τετάρτη 20 Ιουλίου 2016
Clinical profile of acute myocardial infarction in young adults
Repeated interventions towards weight reduction by adopting multidimensional approach through health education in urban slum area of Mysore city
2016-07-20T09-41-06Z
Source: International Journal of Medical Science and Public Health
Smitha M C, Srinivas B M, Rama H V, Narayana Murthy M R, Nayana Shahbadi, Renuka Manjunath.
Background: With the increased burden of Non - Communicable diseases in the world and with obesity being one of the most common risk factor of all the NCDs, our study was undertaken to curtail this risk factor by a simple, repeated intervention through health education. Objectives: (1)To achieve control/reduction in the weight among adult women by monthly educational intervention and (2) To determine the role of each monthly intervention on weight control /reduction among the same group. Material and Method: The study was carried out an urban slum area of Mysore city with subjects being women of self- help group. Baseline BMI was calculated. Intervention on weight reduction was given in the form of repeated health education with multi-dimensional approach towards weight reduction for a period of four months and every month progress assessed by measuring weight and calculation BMI. Results: 19 participants (51.3%) achieved weight reduction, 11(29.7%) maintained their weight and 7 participants (18.9%) Gained weight. Intervention in the form of health education related to nutrition was found to have a significant impact on weight reduction (p value
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Characterization of Goat Production System in Shifting and Permanent Farming Systems in Western Ethiopia
2016-07-20T09-27-24Z
Source: International Journal of Livestock Research
Yilma Tadesse, Alemayehu Abebe, Shibeshi Zerihun, Tesfaye Debelu, Workineh Tezera.
This study was conducted in two zones and one special district in Western part Ethiopia to assess the production system, economic importance of goats, identify the major constraints and to suggest appropriate interventions of goat production in the region. Seven districts representing permanent farming system (PFS) and shifting farming system (SFS) were selected for the present study. Households (HHs) rearing goats and who are accessible were purposely selected (102 HHs from each farming system (FS)). Data was collected using exploratory study, cross-sectional survey, focus group discussions, structured questionnaire, key informant interviews and review of secondary sources. Data was analyzed using JMP-5 and SPSS software and reported using descriptive and inferential statistics. Results revealed that goat keepers in PFS were better educated than in SFS. There was no significant variation in family size and land size among HHs in the FSs. In both FSs, goats were primarily kept for income and home consumption. The major feed resources included indigenous browses, open grasslands, hillsides, swampy areas and aftermaths. Thatched houses with slatted floors were commonly used goat shelters in the FSs. Goats on average produce 0.5lts of milk per day during early lactation. In SFS goats attain weaning age later than goats reared in PFS, but relatively longer kidding interval was reported in PFS. Peste des petits Ruminants, Contagious Caprine Pluero Pneumonia, Foot and Mouth Disease, internal and external parasites and abortion were the major health problems in both FSs and shortage of grazing land in PFS in particular. It was generally observed that, both the production and reproductive performances of goats in the study areas were low which in turn affect their contribution to household wellbeing. Therefore, interventions aiming at improving goat husbandry practices should be in place to exploit their potential contribution to goat raisers.
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Does the type of visual feedback information change the control of standing balance?
Abstract
Purpose
The aim of this study was to evaluate whether different types of visual feedback influence the control of standing balance.
Methods
Twenty-six subjects performed three tasks on a force platform: (1) standing with eyes open; (2) maintaining the own center of pressure (COP) displacement (internal feedback) on a target; and (3) pointing with a handheld laser pointer (external feedback) on a target. The COP and ankle displacements were measured through a force platform and a biaxial electrogoniometer, respectively, during 60 s in each task. Global posturographic parameters were computed in the anterior–posterior and medial–lateral directions. In addition, the standard deviation and mean frequency of the ankle movements were also calculated in the sagittal plane.
Results
The sway area and standard deviation of COP differed between conditions, wherein smaller and higher values were typically observed during the internal and external feedback, respectively. Conversely, both the mean frequency and the mean velocity of COP were greater during internal feedback compared with other tasks, while external feedback usually leads to smaller values. Additionally, smaller and higher values for the ankle standard deviation and the ankle mean frequency, respectively, were observed during internal feedback, with the external feedback condition showing an opposite behavior.
Conclusions
These results showed that the global postural sway and the postural adjustments at ankle during standing balance change depending on the type of visual feedback information.
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Prevalence of canine parvovirus and canine influenza virus infection in dogs in Dhaka, Mymensingh, Feni and Chittagong districts of Bangladesh
2016-07-20T05-04-39Z
Source: Asian Journal of Medical and Biological Research
Soumitra Sen, Md. Siddiqur Rahman, Minakshi Nag, Mohummad Muklesur Rahman, Roma Rani Sarker and S. M. Lutful Kabir.
Canine parvovirus (CPV) and canine influenza virus (CIV) are highly contagious virus infecting members of the canine family including dogs, coyotes, foxes and wolves. The research work was carried out to determine the prevalence of CPV and CIV in dogs (stray and pet dogs) in Dhaka, Mymensingh, Feni and Chittagong districts by using RapiGen CPV and CIV Ag test kit. Fecal samples were collected from 50 dogs of different age and sex from different spots of Dhaka and Chittagong districts. Nasal fluid samples were collected from 50 dogs of different age and sex from different spots. The samples were tested with RapiGen canine parvovirus Ag test kit and RapiGen canine influenza Ag test kit. Overall prevalence of CPV in pet dogs was 22% and in stray dogs was 30%. The prevalence of canine parvovirus in relation to age was gradually decreasing with higher age group and the prevalence was 28% in 1-6 months age, 16.66% in 7-12 months age group 11.11% over 18 months age group. The prevalence of canine parvovirus was significantly higher in male (24.13%) than that in female (19.04%). All samples showed negative test result for canine influenza virus. Prevalence of canine influenza virus infection were 00.00% in all age groups and sex. Overall prevalence of CIV in all pet and stray dogs were 00.00%.
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Management of seed borne fungal pathogens of okra collected from seed companies
2016-07-20T05-04-39Z
Source: Asian Journal of Medical and Biological Research
G. M. Kibria Hossain, S.M. Ahsan and Tanjila Ahmed.
Effect of mehogoni, mehedi and allamanda extracts were tested to control seed borne fungi of okra seeds collected from 6 companies of notunbazar in Mymensingh district. Prevalence of seed borne fungi was studied by blotter method in the Seed Pathology Center (SPC) and MS Laboratory, Department of Plant Pathology, Bangladesh Agricultural University (BAU), Mymensingh. The highest germination percentage was recorded from ACI seeds (88%), while lowest (70%) in BADC seeds. Six predominant fungal genera were identified. These species were Fusarium oxysporum (5.08%), Aspergillus flavus (4.50%), Aspergillus niger (6.50%), Colletotrichum dematium (4.67%), Rhizopus stolonifer (3.33%) and Penicillium spp. (3.00%). Germination percentage and fungal association varied from company to company. The germination was ranged from 70-95% and infections were recorded 0.80-6.1% in all the treated seeds. Mehogoni extracts at the rate of 1:1 showed best performance in increasing seed germination (96.00%) next to allamanda (70%). Vigour index of okra seeds were increased 19.14% over untreated seeds by the treatment of mehogoni seed extracts at the rate of 1:1. Mehogoniseed extract at the rate of 1:1 seemed to be adoptable at the farmer‟s level as an organic management practice.
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Effect of progressive normobaric hypoxia on dynamic cerebral autoregulation
Cerebral blood flow is maintained at relatively constant levels over a wide range of perfusion pressures via cerebral autoregulation (CA). Although acute hypoxia reduces dynamic CA, it is unclear what level of hypoxia is necessary to exert this effect. We evaluated dynamic CA during progressive normobaric hypoxia (∼1 hour each at 21%, 18%, 15%, and 12% O2) using duplex ultrasonography to measure volumetric changes in common carotid artery blood flow of 11 healthy young males. Dynamic CA was evaluated by the thigh-cuff method and represented as rate of regulation (RoR) in vascular conductance. On a separate occasion, symptoms of acute mountain sickness (AMS) were evaluated over 6 hours of prolonged hypoxia (FiO2 = 14.1%) using the Lake Louise Questionnaire. Repeated measures ANOVA with linear trend analysis indicated that dynamic CA decreased progressively as FiO2 was reduced (P < 0.001). Spearman rank order analysis revealed that AMS symptoms were related to changes in RoR from 21% to 15% (r = -0.869, P = 0.006) and from 21% to 12% O2 (r = -0.648, P = 0.040), respectively. These results suggest that dynamic CA worsens with progressive hypoxia and that reductions in dynamic CA during moderate-to-severe hypoxia (<15% O2) may be related to the severity of AMS.
This article is protected by copyright. All rights reserved
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Ketone Bodies and Exercise Performance: The Next Magic Bullet or Merely Hype?
Abstract
Elite athletes and coaches are in a constant search for training methods and nutritional strategies to support training and recovery efforts that may ultimately maximize athletes' performance. Recently, there has been a re-emerging interest in the role of ketone bodies in exercise metabolism, with considerable media speculation about ketone body supplements being routinely used by professional cyclists. Ketone bodies can serve as an important energy substrate under certain conditions, such as starvation, and can modulate carbohydrate and lipid metabolism. Dietary strategies to increase endogenous ketone body availability (i.e., a ketogenic diet) require a diet high in lipids and low in carbohydrates for ~4 days to induce nutritional ketosis. However, a high fat, low carbohydrate ketogenic diet may impair exercise performance via reducing the capacity to utilize carbohydrate, which forms a key fuel source for skeletal muscle during intense endurance-type exercise. Recently, ketone body supplements (ketone salts and esters) have emerged and may be used to rapidly increase ketone body availability, without the need to first adapt to a ketogenic diet. However, the extent to which ketone bodies regulate skeletal muscle bioenergetics and substrate metabolism during prolonged endurance-type exercise of varying intensity and duration remains unknown. Therefore, at present there are no data available to suggest that ingestion of ketone bodies during exercise improves athletes' performance under conditions where evidence-based nutritional strategies are applied appropriately.
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Metaboreflex activation delays heart rate recovery after aerobic exercise in never-treated hypertensive men
Abstract
Muscle metaboreflex influences heart rate (HR) regulation after aerobic exercise. Therefore, increased metaboreflex sensitivity may help to explain the delayed HR recovery (HRR) reported in hypertension. This study assessed and compared the effect of metaboreflex activation after exercise on HRR, cardiac baroreflex sensitivity (cBRS) and heart rate variability (HRV) in normotensive (NT) and hypertensive (HT) men. Twenty-three never-treated HT and 25 NT men randomly underwent two-cycle ergometer exercise sessions (30min, 70%VO2peak) followed by 5 min of inactive recovery performed with (occlusion) or without (control) leg circulatory occlusion (calf cuff inflated to a suprasystolic pressure). HRR was assessed via HR reduction after 30, 60 and 300s of recovery (HRR30s, HRR60s and HRR300s), and by the analysis of short- (T30) and long-term (HRRt) time constants of HRR. cBRS was assessed by sequence technique and HRV by the root mean square residual (RMS) and the root mean square of successive differences between adjacent RR intervals (RMSSD) on subsequent 30s segments. Data were analysed using two- and three-way ANOVAs. HRR60s and cBRS were significant and similarly reduced in both groups in the occlusion compared with the control session (combined values: 20 ± 10 vs. 26 ± 9 bpm and 2.1 ± 1.2 vs. 3.2 ± 2.4 ms mmHg−1, respectively, P < 0.05). HRR300s and HRV were also reduced in the occlusion session, but these reductions were significantly greater in HT compared to NT (−16 ± 11 vs. −8 ± 15 bpm for HRR300s, P < 0.05). The results support the role of metaboreflex on HRR and suggest that increased metaboreflex sensitivity may partially explain the delayed HRR observed in HT men.
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Utility of S100B Serum Level for the Determination of Concussion in Male Rugby Players
Abstract
Background
The incidence of concussion in professional direct-contact sports, particularly in rugby, has increased in recent years. To date, cognitive assessment is the most common means of determining whether a concussed player can return to the game. Serum S100B assay, an objective blood test known to be useful in brain injury management, may offer a novel additional approach to the management of concussed male rugby players.
Objective
The aim of this study was to investigate the S100B utility for the determination of concussion in a professional 15-players-a-side rugby team.
Methods
Thirty-nine male rugby players were included in a prospective study during the 2014–2015 French championship season. Serum sampling was carried out several times at baseline and after a match and/or a concussion, at set times (2, 36 h). Serum S100B concentrations were determined using chemiluminescence immunoassay on a Roche Diagnostics® instrument.
Results
The players' basal serum S100B was stable during the season and was not correlated with anthropometric data, body composition, or creatine kinase concentration. A significant increase in S100B concentration within 2 h after a game (without concussion) was observed. This increase was correlated with the number of body collisions during a match. Seventy-seven assays were performed 36 h after a game, including the follow-up of five concussed players. Thirty-six hours after a match, an increase of a minimum of 20 % compared with individual basal concentrations identified concussion with 100 % sensitivity and 81 % specificity.
Conclusion
S100B measured 36 h after a match is thus a discriminating test to identify concussion in a male rugby player, with a 100 % negative predictive value.
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Effects of selective carotid body stimulation with adenosine in conscious humans
Abstract
Stimulation of peripheral chemoreceptors by acute hypoxia causes an increase in minute ventilation (VI), heart rate (HR) and arterial blood pressure (BP). However, the contribution of particular chemosensory areas - carotid (CB) vs. aortic bodies - to this response in humans remains unknown. We performed a blinded, randomized and placebo controlled study in 11 conscious patients (9 men, 2 women) undergoing common carotid artery angiography. Doses of adenosine ranging from 4 to 512 μg or placebo solution of matching volume were administered in randomized order via a diagnostic catheter located in a common carotid artery. Separately, ventilatory and hemodynamic responses to systemic hypoxia were also assessed. Direct excitation of a CB with intra-arterial adenosine increased VI, systolic BP, mean BP and decreased HR. No responses in these variables were seen after injections of placebo. The magnitude of the ventilatory and hemodynamic responses depended on both the dose of adenosine used and on the level of chemosensitivity as determined by the ventilatory response to hypoxia. Percutaneous radio-frequency ablation of the CB abolished the adenosine evoked respiratory response and partially depressed the cardiovascular response in one participant. Our study confirms the excitatory role of purines in CB physiology in humans and suggests that adenosine may be used for selective stimulation and assessment of CB activity. The trial is registered at ClinicalTrials.gov NCT01939912.
This article is protected by copyright. All rights reserved
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Rac1 governs exercise-stimulated glucose uptake in skeletal muscle through regulation of GLUT4 translocation in mice
Key point
- Exercise increases skeletal muscle energy turnover and one of the important substrates for the working muscle is glucose taken up from the blood.
- The GTPase Rac1 can be activated by muscle contraction and has been found to be necessary for insulin-stimulated glucose uptake, although its role in exercise-stimulated glucose uptake is unknown.
- We show that Rac1 regulates the translocation of the glucose transporter GLUT4 to the plasma membrane in skeletal muscle during exercise.
- We find that Rac1 knockout mice display significantly reduced glucose uptake in skeletal muscle during exercise.
Abstract
Exercise increases skeletal muscle energy turnover and one of the important substrates for the working muscle is glucose taken up from the blood. Despite extensive efforts, the signalling mechanisms vital for glucose uptake during exercise are not yet fully understood, although the GTPase Rac1 is a candidate molecule. The present study investigated the role of Rac1 in muscle glucose uptake and substrate utilization during treadmill exercise in mice in vivo. Exercise-induced uptake of radiolabelled 2-deoxyglucose at 65% of maximum running capacity was blocked in soleus muscle and decreased by 80% and 60% in gastrocnemius and tibialis anterior muscles, respectively, in muscle-specific inducible Rac1 knockout (mKO) mice compared to wild-type littermates. By developing an assay to quantify endogenous GLUT4 translocation, we observed that GLUT4 content at the sarcolemma in response to exercise was reduced in Rac1 mKO muscle. Our findings implicate Rac1 as a regulatory element critical for controlling glucose uptake during exercise via regulation of GLUT4 translocation.
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Low Energy Availability in Exercising Women: Historical Perspectives and Future Directions
Abstract
Research on the health of female athletes has developed substantially over the past 50 years. This review aims to provide an overview of this research and identify directions for future work. While early cross-sectional studies focused primarily on menstruation, research has progressed to now encompass hormonal changes, bone health and lipid profiles. The seminal work of Loucks and colleagues distinguished that these health concerns were due to low energy availability (LEA) rather than exercise alone. LEA occurs when the body has insufficient energy available to meet the needs of training and normal physiological functioning. While there appears to be agreement that LEA is the underlying cause of this syndrome, controversy regarding terminology has emerged. Originally coined the female athlete triad (Triad), some researchers are now advocating the use of the term relative energy deficiency in sport (RED-S). This group argues that the term Triad excludes male athletes who also have the potential to experience LEA and its associated negative impact on health and performance. At present, implications of LEA among male athletes are poorly understood and should form the basis of future research. Other directions for future research include determination of the prevalence and long-term risks of LEA in junior and developmental athletes, and the development of standardised tools to diagnose LEA. These tools are required to aid comparisons between studies and to develop treatment strategies to attenuate the long-term health consequences of LEA. Continued advances in knowledge on LEA and its associated health consequences will aid development of more effective prevention, early detection and treatment strategies.
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No Muscle is an Island: Integrative Perspectives on Muscle Fatigue.
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Cardiorespiratory Response to Different Exercise Tests in Interstitial Lung Disease.
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Impact of 12-s Rule on Performance and Muscle Damage of Baseball Pitchers.
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The Influence of Maturation on Sprint Performance in Boys over a 21-Month Period.
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Additive Benefits of [beta]-Alanine Supplementation and Sprint-Interval Training.
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Persistent Muscle Inhibition after ACL Reconstruction: Role of Reflex Excitability.
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Muscle Fatigue from the Perspective of a Single Cross-bridge.
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PDPR Gene Expression Correlates with Exercise-Training Insulin Sensitivity Changes.
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Periodization Strategies in Older Adults: Impact on Physical Function and Health.
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Neuromuscular Changes and Damage after Isoload versus Isokinetic Eccentric Exercise.
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Is total pancreatectomy as feasible, safe, efficacious, and cost-effective as pancreaticoduodenectomy? A single center, prospective, observational study
Journal of Gastrointestinal Surgery
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Comparison of associations of maternal peri-pregnancy and paternal anthropometrics with child anthropometrics from birth through age 7 y assessed in the Danish National Birth Cohort
American Journal of Clinical Nutrition
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The global burden of viral hepatitis from 1990 to 2013: findings from the Global Burden of Disease Study 2013
The Lancet
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Perineal rectosigmoidectomy (Altemeier procedure) as treatment of strangulated rectal prolapse
Journal of Gastrointestinal Surgery
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Glucose homeostasis, insulin resistance and inflammatory biomarkers in patients with non-alcoholic fatty liver disease: Beneficial effects of supplementation with microalgae Chlorella vulgaris: A double- blind placebo- controlled randomized clinical trial
Clinical Nutrition
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Central obesity and risks of pre- and postmenopausal breast cancer: A dose–response meta-analysis of prospective studies
Obesity Reviews
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Metformin improves survival in patients with pancreatic ductal adenocarcinoma and pre-existing diabetes: A propensity score analysis
The American Journal of Gastroenterology
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Variation in primary site resection practices for advanced colon cancer: A study using the national cancer data base
The American Journal of Surgery
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Nucleos(t)ide analogue(s) prophylaxis after hepatitis B immunoglobulin withdrawal against hepatitis B and D recurrence after liver transplantation
Transplant Infectious Disease
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Nausea in children with functional abdominal pain predicts poor health outcomes in young adulthood
Clinical Gastroenterology and Hepatology
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Psychosocial predictors and moderators of weight management programme outcomes in ethnically diverse obese youth
Pediatric Obesity
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Small intestinal bacterial overgrowth is associated with irritable bowel syndrome and is independent of proton pump inhibitor usage
BMC Gastroenterology
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Patients with endoscopically visible polypoid adenomatous lesions within the extent of ulcerative colitis have an increased risk of colorectal cancer despite endoscopic resection
Digestive Diseases and Sciences
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Comparison of next generation sequencing technologies for the comprehensive assessment of full-length hepatitis C viral genomes
Journal of Clinical Microbiology
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A 15-year experience with gastric neuroendocrine tumors: Does type make a difference?
Journal of Surgical Oncology
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Malnutrition coupled with diarrheal and respiratory infections among children in Asia: A systematic review
Public Health Nursing
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Preoperative left portal vein embolization for left liver resection in high-risk hepatobiliary malignancy patients
World Journal of Surgery
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Impact of preoperative exclusive enteral nutrition on postoperative complications and recurrence after bowel resection in patients with active Crohn's disease
World Journal of Surgery
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The effects of school-based lifestyle interventions on body mass index and blood pressure: a multivariate multilevel meta-analysis of randomized controlled trials
Obesity Reviews
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A novel enteric neuron-glia coculture system reveals the role of glia in neuronal development
Abstract
In the nervous system, the formation of neuronal circuitry results from a complex and coordinated action of intrinsic and extrinsic factors. In the CNS, extrinsic mediators derived from astrocytes have been shown to play a key role in neuronal maturation, including dendritic shaping, axon guidance and synaptogenesis. In the enteric nervous system (ENS), the potential role of enteric glial cells (EGCs) in the maturation of developing enteric neuronal circuit is currently unknown. A major obstacle in addressing this question is the difficulty to obtain a valuable experimental model in which enteric neurons could be isolated and maintained without EGCs. We adapted a cell culture method previously developed for CNS neurons to establish a neuron-enriched primary culture from embryonic rat intestine which was cultured in indirect coculture with EGCs. We demonstrated that enteric neurons grown in such conditions showed several structural, phenotypical and functional hallmarks of proper development and maturation. However, when neurons were grown without EGC, the complexity of the axonal arbour and the density of synapses were markedly reduced, suggesting that glial-derived factors contribute strongly to the formation of the neuronal circuitry. We found that these effects played by EGCs were mediated in part through purinergic P2Y1 receptor- and GDNF-dependent pathways. Using a novel and valuable culture model to study enteric neuron-glia interactions, our study identified EGCs as a key cellular actor required for neuronal network maturation.
This article is protected by copyright. All rights reserved
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Stepwise diagnosis in covert hepatic encephalopathy: Critical flicker frequency and MELD-score as a first-step approach
Alimentary Pharmacology and Therapeutics
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Gene loss/retention and evolutionary pattern of ascorbic acid biosynthesis and recycling genes in Brassica rapa following whole genome triplication
Abstract
Ascorbic acid (AsA) is an inevitable antioxidant found abundantly in higher plants. Despite the importance of AsA in plants, how AsA biosynthesis (ABGs; d-mannose/l-galactose pathway) and AsA recycling genes (ARGs) evolved through polyploidization has not been addressed to date. Here, we evaluated the impacts of whole genome triplication (WGT) on ABGs and ARGs in Chinese cabbage (Brassica rapa ssp. pekinensis), which diverged from Arabidopsis thaliana before the WGT event. Twenty-three ABGs coded in 13 loci representing nine different enzyme classes and 29 ARGs coded in 19 loci representing five different enzyme classes were identified in the B. rapa genome by whole-genome screening through comparative genomic analyses. Five of these loci maintained three gene copies, 10 loci maintained two gene copies and the majority of the loci (n = 17) maintained single gene copies. Segmental (62 %) and tandem duplication (6 %), and fragment (21 %) and large-scale recombination (10 %) events accelerated the diversification of ABGs and ARGs. Thirteen of the 52 (25 %) identified genes experienced intron losses and two (4 %) experienced intron gains implying that intron losses outnumbered intron gains. The expansion and the retention of ABGs and ARGs were similar to the whole genome gene expansion and retention (P > 0.05). These findings provide new insights into the structural characteristics and evolutionary trends of ABGs and ARGs. In addition, our data could become a useful resource to further the functional characterization of these genes.
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The CYP17-MspA1 rs743572 polymorphism is not associated with gender dysphoria
Abstract
Gender dysphoria is commonly thought to arise from discrepant cerebral and genital sexual differentiation. Increasing evidence supports the idea of genetic vulnerability. The purpose of this paper was to investigate whether the polymorphism CYP17-MspA1 rs743572 is associated with gender dysphoria. Fragments that included the rs743572 polymorphism were PCR amplified and digested with MspA1 in 317 MtFs, 223 FtMs, 358 control men and 264 control women. The allele/genotype frequencies were compared between groups, with the 1000 Genomes Data Base and with international literature. Allele and genotype frequencies did not differ significantly between the FtM and female control groups (χ2 = 0.631; p = 0.43 and χ2 = 2.767; p = 0.25), or between the MtF and male control groups (χ2 = 0.105; p = 0.74 and χ2 = 0.789; p = 0.67). A2 frequency was higher in the FtM (0.43) than the female control group (0.41), male control group (0.40), or MtF group (0.39), but this difference did not reach statistical significance. Genotype frequencies did not differ significantly between groups (p = 0.66), between genotypes (p = 0.4) or between sexes (p = 0.66). Our data contradict previous findings about the CYP17-MspA1 rs743572 polymorphism and gender dysphoria and concur with the 1000 Genomes Data Base, which shows that the allele frequencies vary between countries and ethnicities but not between sexes. Our data do not support a hypothetical involvement of the rs743572 polymorphism in the genetic basis of gender dysphoria.
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