Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India

ConclusionUnderstanding genetic basis of obesity might provide  a clue for better management and treatment in times to come. This work demonstrates identification of novel mutation inLEPR gene resulting into early onset of obesity. Discovery of novel, population ‐specific genomics markers will help population screening programs in creating base for possible therapeutic applications and prevention of this disease for next generations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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CONCLUSIONS: The authors suggest stasis mucinosis and OALM represent the spectrum of euthyroid mucin depositional disease in varying clinical settings. PMID: 31730515 [PubMed - in process]
Source: Wounds - Category: General Medicine Tags: Wounds Source Type: research
CONCLUSIONS: This retrospective study further supports previous evidence that acellular fish skin graft promotes wound healing in DFUs. In particular, a rapid increase in wound healing was observed during the initial 4 weeks following graft application. This study and review of the literature indicated that fish graft encourages wound healing by enabling the wound to transition from a chronic to an acute stage of healing. PMID: 31730505 [PubMed - as supplied by publisher]
Source: Wounds - Category: General Medicine Tags: Wounds Source Type: research
Learn all about how to detect type 1 diabetes in children and youth: signs, symptoms, and treatments.
Source: Diabetes Mine - Category: Endocrinology Authors: Source Type: blogs
Conclusions/interpretationThese results demonstrate a fundamental role for AIM2 in energy metabolism, inflammation and insulin resistance. Our studies establish a novel link between the innate immunity proteins, AIM2 and p202, and metabolism.
Source: Diabetologia - Category: Endocrinology Source Type: research
Conclusions/interpretationThis study provides a proof of principle for the use of iPSC-derived immune cells for modelling key cellular interactions in human type 1 diabetes.
Source: Diabetologia - Category: Endocrinology Source Type: research
Conclusions/interpretationShort-term structured strength and balance training did not influence HRQoL but produced sustained improvements in functional status and balance confidence at 6  months. More intensive interventions may be needed to influence HRQoL in these individuals. However, this intervention may be a useful treatment option for individuals with DPN to reduce the risk of falls and injuries.Trial registrationClinicalTrials.gov NCT02115932FundingThis work was supported by the National Medical Research Council, Singapore.
Source: Diabetologia - Category: Endocrinology Source Type: research
AbstractAims/hypothesisDiet is one of the main lifestyle-related factors that can modulate the inflammatory process. Surprisingly the dietary inflammatory index (DII) has been little investigated in relation to type 2 diabetes, and the role of BMI in this relationship is not well established. We studied this association and the role of BMI in the inflammatory process in a large population-based observational study.MethodsA total of 70,991 women from the E3N (Etude Epid émiologique auprès de femmes de la Mutuelle Générale de l’Education Nationale) cohort study were followed for 20 year...
Source: Diabetologia - Category: Endocrinology Source Type: research
AbstractAims/hypothesisCardiovascular disease is the most common comorbidity in type 1 diabetes. However, current guidelines do not include routine assessment of myocardial function. We investigated whether echocardiography provides incremental prognostic information in individuals with type 1 diabetes without known heart disease.MethodsA prospective cohort of individuals with type 1 diabetes without known heart disease was recruited from the outpatient clinic. Follow-up was performed through Danish national registers. The association of echocardiography with major adverse cardiovascular events (MACE) and the incremental p...
Source: Diabetologia - Category: Endocrinology Source Type: research
Conclusions/interpretationOur findings suggest that children who progress to type 1 diabetes have a unique metabolic profile, which is, however, altered with the appearance of islet autoantibodies. Our findings may assist with early prediction of the disease.
Source: Diabetologia - Category: Endocrinology Source Type: research
Conclusions/interpretationThese data indicate that fenofibrate alters the pancreatic lipidome to a more anti-inflammatory and anti-apoptotic state. The beneficial effects on islet sympathetic nerve fibres and blood glucose homeostasis indicate that fenofibrate could be used as a therapeutic approach to improve blood glucose homeostasis and prevent diabetes-associated pathologies.
Source: Diabetologia - Category: Endocrinology Source Type: research
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