Background Obesity, especially early onset of obesity is a serious health concern in both developed and developing countries. This is further associated with serious comorbidities like a fatty liver disease, cardiovascular diseases, type‐2 diabetes, obstructive sleep apnea, renal complications and respiratory problems. Many times early onset of obesity is linked with heritable monogenic, polygenic and syndromic forms. Globally, studies on roles of genes involved in early onset of obesity are limited. Methods Here in this study, a consanguineous family of Western Indian origin having four siblings, one unaffected and three affected with severe early onset of obesity was enrolled. Affected siblings also displayed comorbidities like mild to moderate obstructive sleep apnea, raised Renal Resistance Index, oliguria, and severe anemia. Whole Exome Sequencing (WES) of Trio with one affected and unaffected sibling was done. Data analysis was performed to check pathogenic mutation segregation in unaffected parents with affected and unaffected sibling. Results WES of trio identified novel frameshift mutation in the LEPR gene resulting in truncated leptin receptor (LEPR). The same mutation was confirmed in other affected siblings and two siblings of distant relatives by Sanger sequencing. The possible effects of truncating mutation in LEPR function by in silico analysis were also studied. Conclusion Understanding genetic basis of obesity might provide a clue for better management and treatment in times to come. This work demonstrates identification of novel mutation in LEPR 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.
This series describes six paediatric cases who presented as severe acute respiratory illness during the pandemic of covid-19 with high D-dimer levels. All six patients tested negative for novel corona virus. They were diagnosed as having tuberculosis on detailed investigations; High D-dimer levels are one of the most important indicators of the pulmonary embolism. Pulmonary embolism is a rare presentation of tuberculosis and this study emphasizes the need of keeping tuberculosis as an important differential diagnosis of those who present as acute respiratory distress syndrome.
Background: There are several reports of the pediatric multisystem inflammatory syndrome associated with COVID-19 in children globally. The current Indian data on PIMS-TS associated with COVID-19 are scarce. Aims and Objectives: To describe demographic, clinical and laboratory findings, management, and follow - up of cases of PIMS-TS. Materials and Method: We analyzed children presenting to our hospital from July 2020 to January 2021, with PIMS-TS. Cases were categorized into two subsets: Group 1 (MIS-C with shock) and Group 2 (MIS-C without shock). Coronary Z scores of >2.5 were considered as dilated. We followed all the patients at 15 days, 3 months, 6 months, and 12 months. Results: Total 11 patients with diagnosis of MIS-C were treated during this study period. Mean age of presentation was 6.5 years. All patients in Group 1 needed inotropic support and treated with steroids and intravenous immunoglobulin. Three patients required administration of tocilizumab. All these were girls <6 years with neutrophil to lymphocyte ratio (NLR) >3.5, had dilated cardiac chambers with significantly decreased ventricular ejection fractions and dilated coronary arteries. Mean length of hospital stay was around 10 days. In Group 1, gastrointestinal and cardiovascular symptoms were prominent. While in group 2, prominent symptoms were gastrointestinal and mucocutaneous. Conclusion: Most of the children in this study had coronary artery abnormalities, low incidence of RT-PCR positivity and presence of SARS–CoV-2 antibodies. Use of tocilizumab to control the inflammatory response is likely to be beneficial in steroid resistant cases. Coronaries and cardiac function reverts to normal in a month without any residual effects.
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