Type 2 diabetes (T2D) is a complex metabolic derangement that has a strong genetic basis. There is substantial population-specificity in the association of genetic variants with T2D. The Indian urban Sindhi population is at a high risk of T2D. The genetic basis of T2D in this population is unknown. We interrogated 28 pooled whole blood genomes of 1402 participants from the Diabetes In Sindhi Families In Nagpur (DISFIN) study using Illumina’s Global Screening Array. From a total of 608,550 biallelic variants, 140 were significantly associated with T2D after adjusting for comorbidities, batch effects, pooling error, kinship status and pooling variation in a random effects multivariable logistic regression framework. Of the 102 well-characterized genes that these variants mapped onto, 70 genes have been previously reported to be associated with T2D to varying degrees with known functional relevance. Excluding open reading frames, intergenic non-coding elements and pseudogenes, our study identified 22 novel candidate genes in the Sindhi population studied. Our study thus points to the potential, interesting candidate genes associated with T2D in an ethnically endogamous population. These candidate genes need to be fully investigated in future studies.

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Susceptibility Loci for Type 2 Diabetes in the Ethnically Endogamous Indian Sindhi Population: A Pooled Blood Genome-Wide Association Study

https://www.plantsjournal.com/archives/2017/vol5issue6/PartA/5-6-8-649.pdf

Medicinal plants used by thoriya ethnic (Sub tribe of baduga) in Nilgiris, India

Polygenic scores of diabetes-related traits in subgroups of type 2 diabetes in India: a cohort study

To assess the burden of type 2 diabetes (T2D) and its genetic profile in endogamous populations of India given the paucity of data, we aimed to determine the prevalence of T2D and estimate its heritability using family-based cohorts from three distinct Endogamous Ethnic Groups (EEGs) representing Northern (Rajasthan [Agarwals: AG]) and Southern (Tamil Nadu [Chettiars: CH] and Andhra Pradesh [Reddys: RE]) states of India. For comparison, family-based data collected previously from another North Indian Punjabi Sikh (SI) EEG was used. In addition, we examined various T2D-related cardiometabolic traits and determined their heritabilities. These studies were conducted as part of the Indian Diabetes Genetic Studies in collaboration with US (INDIGENIUS) Consortium. The pedigree, demographic, phenotypic, covariate data and samples were collected from the CH, AG, and RE EEGs. The status of T2D was defined by ADA guidelines (fasting glucose ≥ 126 mg/dl or HbA1c ≥ 6.5% and/or use of diabetes medication/history). The prevalence of T2D in CH (N = 517, families = 21, mean age = 47y, mean BMI = 27), AG (N = 530, Families = 25, mean age = 43y, mean BMI = 27), and RE (N = 500, Families = 22, mean age = 46y, mean BMI = 27) was found to be 33%, 37%, and 36%, respectively, Also, the study participants from these EEGs were found to be at increased cardiometabolic risk (e.g., obesity and prediabetes). Similar characteristics for the SI EEG (N = 1,260, Families = 324, Age = 51y, BMI = 27, T2D = 75%) were obtained previously. We used the variance components approach to carry out genetic analyses after adjusting for covariate effects. The heritability (h2) estimates of T2D in the CH, RE, SI, and AG were found to be 30%, 46%, 54%, and 82% respectively, and statistically significant (P ≤ 0.05). Other T2D related traits (e.g., BMI, lipids, blood pressure) in AG, CH, and RE EEGs exhibited strong additive genetic influences (h2 range: 17% [triglycerides/AG and hs-CRP/RE] - 86% [glucose/non-T2D/AG]). Our findings highlight the high burden of T2D in Indian EEGs with significant and differential additive genetic influences on T2D and related traits.

/pdf/burden-of-type-2-diabetes-and-associated-cardiometabolic-30plm8dj.pdf

Burden of Type 2 Diabetes and Associated Cardiometabolic Traits and Their Heritability Estimates in Endogamous Ethnic Groups of India: Findings From the INDIGENIUS Consortium

Numerous plants are traditionally grown in kitchen gardens and consumed by the general population. Incidents of accidental ingestion of harmful plants due to their striking resemblance with the edible ones are well-known. Cases: A family of three (a mother and her two children) unintentionally consumed leaves of small plants of Datura stramonium, instead of Solanum nigrum. They were admitted in intensive care unit with anticholinergic symptoms, treated symptomatically and discharged. On probing further, it is understood that both the plants look similar when young. However, it is easy to distinguish between them when the plants are fully grown. Conclusion: It is essential to educate the public regarding proper identification of locally available leafy vegetables that are fit for consumption. Also, clinicians should have a high index of suspicion in such cases of family poisoning even in the absence of a reliable history.

Datura Poisoning in a Family - A Tale of Mistaken Identity.

Mumps is an acute viral illness occurring in children and young adults transmitted via droplets. It is a vaccine-preventable illness caused by the mumps virus, an RNA (ribonucleic acid) virus belonging to theParamyxoviridaefamily. It typically presents with fever, parotitis, epididymo-orchitis, oophoritis, meningitis, encephalitis, pancreatitis and arthritis. Although viremia with multiorgan involvement is known to be commonly seen in mumps, there have been no reported cases of splenic abscess in a case of mumps. Here we present the case of a 16-year-old girl with unknown vaccination history who presented with fever, rash, bilateral parotid swelling, myocarditis, pneumonitis with pleural effusion and shock. Enzyme-linked immunosorbent assay (ELISA) for mumps Immunoglobulin M (IgM) antibody was positive (ratio: 7.26, reference: 1.10). She was managed conservatively with parenteral antibiotics, oxygen, inotropic support and bronchodilators. As she complained of abdominal pain in the left hypochondrium on the 13th day since onset of symptoms, ultrasound scan of abdomen was done which showed a hypoechoic lesion with internal echoes in the inferior pole of spleen (2.9 cm x 2.2 cm) suggestive of splenic abscess. Computed tomography (CT) of abdomen confirmed similar findings. The splenic abscess completely regressed with parenteral antibiotics. Therefore, one must suspect splenic abscess in a case of mumps when the presentation includes abdominal pain and tenderness so that appropriate treatment may be provided for the best outcome for the patient.

/pdf/mumps-and-splenic-abscess-is-there-a-link-1s6tigol.pdf

Mumps and Splenic Abscess: Is There a Link?

Introduction: Most of the Chronic Obstructive Pulmonary Disease (COPD) patients are smokers and their disease progresses with increasing age. The energy cost of walking has strong association with aging and cigarette smoking. Its implication in COPD remains unclear. Aim: To evaluate the Physiological Cost Index (PCI) of walking among non smokers, smokers and smokers with COPD and to find its association with age and duration of cigarette smoking. Materials and Methods: The cross-sectional study was carried out in the Department of Physical medicine and Rehabilitation (PMR) at Rajah Muthiah Medical College and Hospital, Annamalai University at Chidambaram, Tamil Nadu, India, from November 2019 to February 2020. The PCI was carried out in 77 males, aged between 50-75 years with body mass index between 18.5-24.9 kg/m2 . There were 24 smokers with COPD, 27 were smokers and 26 were non smokers. The evaluation of six minute walk distance, resting, and post walk heart rate was applied in MacGregor's equation to estimate the PCI. Results: The mean PCI of smokers with COPD was 0.67±0.3 which was significantly (p-value=0.001) higher than those of smokers (0.22±0.07) and non smokers (0.14±0.04). The smokers and non smokers had no significant variation in PCI (p-value=0.122). Age had no association with PCI (p-value=0.213) whereas the duration of smoking years was found to have significant association (p=0.014). Conclusion: The PCI was found to be significantly higher in smokers with COPD and a significant association was established with years of smoking rather than age.

Physiological Cost Index of Walking among Non Smokers, Smokers and Smokers with Chronic Obstructive Pulmonary DiseaseAn Observational Study

Introduction: Proprioceptive Neuromuscular Facilitation (PNF) of respiratory muscles was found to improve lung function and haemodynamic parameters in mechanically ventilated patients. It has been proven that respiratory PNF had immediate significant effects in Chronic Obstructive Pulmonary Disease (COPD) patients. As pulmonary rehabilitation for COPD patients is a long-term hospital based service, there arises a need to provide a therapy that provides optimal benefit in short term. Aim: To study the effect of short term respiratory PNF on Peak Expiratory Flow Rate (PEFR) and six-minute walk test in patients with stable COPD. Materials and Methods: This quasi-experimental study was carried out in the Department of Physical Medicine and Rehabilitation, Rajah Muthiah Medical College and Hospital at Annamalai University, Chidambaram, Tamil Nadu, India. Twelve male COPD patients attending Medicine Department outpatient service between December 2020 to January 2021 were conveniently recruited. They were assessed for their PEFR using peak flow meter and exercise tolerance by six-minute walk test. They were treated with three respiratory PNF techniques namely, intercostal stretch, vertebral pressure high and anterior stretch by lifting posterior basal area for five consecutive days. Each treatment session lasted for about 30-40 minutes. The post intervention assessment of PEFR and six-minute walk was made. The pre and post intervention data were statistically analysed using paired samples t-test. Results: In this study, the mean age of the participants was 63.0 ± 5.80 years. The mean post intervention measurement of PEFR (226.67±51.09 L/min) and six-minute walk distance (271.92±50.55 m) was found to be significantly higher (p=0.001) than the mean pre interventional values (165.42±46.19; 219.58±43.24 respectively). Conclusion: Implementation of respiratory PNF techniques on short term basis optimally improves the functional exercise capacity and PEFR in patients with stable COPD.

Effect of Short-term Respiratory Proprioceptive Neuromuscular Facilitation on Peak Expiratory Flow Rate and Six-minute Walk Test in Patients with Stable Chronic Obstructive Pulmonary Disease: A Quasi-experimental Study

Umarani Ravichandran

Papers

Burden of Type 2 Diabetes and Associated Cardiometabolic Traits and Their Heritability Estimates in Endogamous Ethnic Groups of India: Findings From the INDIGENIUS Consortium

Datura Poisoning in a Family - A Tale of Mistaken Identity.

Mumps and Splenic Abscess: Is There a Link?

Physiological Cost Index of Walking among Non Smokers, Smokers and Smokers with Chronic Obstructive Pulmonary DiseaseAn Observational Study

Effect of Short-term Respiratory Proprioceptive Neuromuscular Facilitation on Peak Expiratory Flow Rate and Six-minute Walk Test in Patients with Stable Chronic Obstructive Pulmonary Disease: A Quasi-experimental Study