Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report
Paediatr Int Child Health. 2024 Apr 5:1-3. doi: 10.1080/20469047.2024.2335423. Online ahead of print.ABSTRACTOsteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagm...
Source: Paediatrics and international child health - April 5, 2024 Category: Pediatrics Authors: Ashwini Prithvi Dhrithi Kodethoor Sushma K Sanjiv Lewin Source Type: research
Juvenile sialidosis: a rare case and review of the literature
CONCLUSION: Despite rare, sialidosis is a life-threatening, and disabling disease. Exploring targeted therapy is the utmost to treat this condition.PMID:38576973 | PMC:PMC10990341 | DOI:10.1097/MS9.0000000000001768 (Source: Annals of Medicine)
Source: Annals of Medicine - April 5, 2024 Category: Internal Medicine Authors: Pashupati Pokharel Aakriti Dawadi Biraj Baral Sunil Dhungana Arati Baskota Daman Raj Poudel Source Type: research
Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report
Paediatr Int Child Health. 2024 Apr 5:1-3. doi: 10.1080/20469047.2024.2335423. Online ahead of print.ABSTRACTOsteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagm...
Source: Paediatrics and international child health - April 5, 2024 Category: Pediatrics Authors: Ashwini Prithvi Dhrithi Kodethoor Sushma K Sanjiv Lewin Source Type: research
Evaluation of Circulating Endothelial Cells (CECs) as direct marker of endothelial damage in allo-transplanted patients at high risk of hepatic veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS)
Sinusoidal obstruction syndrome (SOS), also known as veno-occlusive disease (VOD) is a severe and potentially life-threatening complication occurring after chemotherapy, conjugated antibodies therapy, and allogenic hematopoietic cell transplantation (allo-HCT)1,2. Rarely, it can occur after high doses of radiotherapy3, liver transplantation4, or ingestion of toxic alkaloids (toxic injury)5. SOS/VOD with painful hepatomegaly, fluid retention with ascites, weight gain, and jaundice2. Severe forms of SOS/VOD can swiftly progress to multi-organ dysfunction (MOF) and are associated with a very high mortality rate (>80%). (Sourc...
Source: Biology of Blood and Marrow Transplantation - April 4, 2024 Category: Hematology Authors: M. Farina, M.C. Scaini, A. Facchinetti, A. Leoni, S. Bernardi, C. Catoni, E. Morello, V. Radici, Filippo Frioni, E. Campodonico, G. Traverso, G. Cavallaro, A. Olivieri, P. Galieni, N. Di Renzo, F. Patriarca, P. Carluccio, C. Skert, E. Maffini, S. Pellizze Source Type: research
Evaluation of Circulating Endothelial Cells as Direct Marker of Endothelial Damage in Allo-Transplant Recipients at High Risk of Hepatic Veno-Occlusive Disease/Sinusoidal Obstruction Syndrome
Sinusoidal obstruction syndrome (SOS), also known as veno-occlusive disease (VOD), is a severe and potentially life-threatening complication occurring after chemotherapy, conjugated antibodies therapy, and allogenic hematopoietic cell transplantation (allo-HCT) [1,2]. Rarely, it occurs after high-dose radiotherapy [3], liver transplantation [4], or ingestion of toxic alkaloids (toxic injury) [5]. SOS/VOD is marked by painful hepatomegaly, fluid retention with ascites, weight gain, and jaundice [2]. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - April 4, 2024 Category: Hematology Authors: M. Farina, M.C. Scaini, A. Facchinetti, A. Leoni, S. Bernardi, C. Catoni, E. Morello, V. Radici, Filippo Frioni, E. Campodonico, G. Traverso, G. Cavallaro, A. Olivieri, P. Galieni, N. Di Renzo, F. Patriarca, P. Carluccio, C. Skert, E. Maffini, S. Pellizze Tags: Biomarkers Source Type: research
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care
AbstractHepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic ‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e.g., osteopenia in GSD Ib, insulin-resistance in GSD I and GSD III) may be triggered b...
Source: Reviews in Endocrine and Metabolic Disorders - April 1, 2024 Category: Endocrinology Source Type: research
