Publications by authors named "V M Sivaramakrishnan"
Ubiquitin-specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the homozygous, compound heterozygous, or heterozygous state and presented with cholestasis were included.
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- Angiogenesis and osteogenesis need to work together for healthy bones, and disruptions in this process can lead to bone mass loss and conditions like osteoporosis (OP), particularly in postmenopausal women.
- A study identified 28 critical hub genes linked to OP and used computational tools to analyze these genes, revealing the IL6 gene's F201L mutation as particularly harmful and associated with unstable protein structures.
- The research emphasizes the importance of mechanical loading (like weight-bearing exercises) to stimulate bone formation and suggests that this could be an effective preventive strategy against postmenopausal osteoporosis while providing insights for new treatments.
Article Synopsis
- Pial collaterals help protect against ischemic damage and improve outcomes for stroke patients, but the development process for these collaterals is not well understood.
- This research used advanced imaging techniques to reveal that pial collateral arteries form from the growth and connection of existing arterial tips during embryonic development, influenced by a specific receptor.
- Unlike coronary collateral arteries in the heart, the formation of brain collaterals does not rely on the Cxcr4 receptor, indicating different developmental mechanisms at play for each organ.
Practice Recommendations for Metabolic Dysfunction-Associated Steatotic Liver Disease by the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition (ISPGHAN).
Indian Pediatr
October 2024
Article Synopsis
- - The text discusses the rising prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD), which has become the leading chronic liver disease globally among both children and adults, highlighting a lack of regional guidelines for its prevention and management in young populations.
- - A consensus meeting was held in Mumbai on April 20, 2024, where national and international experts collaborated to develop recommendations for the diagnostic evaluation and management of pediatric MASLD, given the condition's significant burden and epidemiology.
- - The recommendations suggest using the term MASLD instead of non-alcoholic fatty liver disease (NAFLD), noting that the disease is particularly common among overweight Indian children and adolescents, and is often asymptomatic or shows mild symptoms,
Timely diagnosis and management of pediatric acute liver failure (PALF) is of paramount importance to improve survival. The Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition invited national and international experts to identify and review important management and research questions. These covered the definition, age appropriate stepwise workup for the etiology, non-invasive diagnosis and management of cerebral edema, prognostic scores, criteria for listing for liver transplantation (LT) and bridging therapies in PALF.
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