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Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs. Variant analysis was performed to identify genetic variants associated with GSDs. A total of 13 variants were identified, including six novel variants, and seven previously reported pathogenic variants in genes such as AGL, G6PC, GAA, PYGL, PYGM, GBE1, SLC37A4, and PHKA2. Most types of GSDs observed in the cohort were associated with hepatomegaly, which was the most common clinical presentation....
Source: Biochemical Genetics - April 15, 2024 Category: Genetics & Stem Cells Authors: Parinaz Moghimi Farzad Hashemi-Gorji Sanaz Jamshidi Sahand Tehrani Fateh Shadab Salehpour Hossein Sadeghi Fatemeh Norouzi Rostami Reza Mirfakhraie Mohammad Miryounesi Mohammad-Reza Ghasemi Source Type: research

Beyond pulmonary embolism: Alternative diagnosis and incidental findings on CT pulmonary angiography in sickle cell disease
ConclusionThis study underscores the limited additional diagnostic yield of CTPA for identifying alternative diagnoses to PE in SCD patients, with the majority of diagnoses, such as pneumonia, already suggested by chest radiographs. The frequent incidental findings, most of which necessitate further evaluation, highlight the need for a cautious and tailored approach to using CTPA in the SCD population. (Source: Emergency Radiology)
Source: Emergency Radiology - April 15, 2024 Category: Emergency Medicine Source Type: research

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
ConclusionsCPTII deficiency may be suspected in newborns showing cardiac arrhythmias, associated or not with hypertrophic cardiomyopathy, polycystic kidneys, brain malformations, hepatomegaly. Its diagnosis should be even more suspected and investigated in cases of increased plasmatic levels of creatine phosphokinase and acylcarnitines in addition to kidney, heart and liver dysfunctions, as occurred in the present patient. Accurate family history, extended metabolic screening, and multidisciplinary approach are necessary for diagnosis and adequate management of affected subjects. Next generation sequencing (NGS) techniques...
Source: Italian Journal of Pediatrics - April 14, 2024 Category: Pediatrics Source Type: research

The pathophysiology of polycystic liver disease
Polycystic liver disease (PLD) is a rare genetic disorder characterized by ≥10 cysts within the liver parenchyma. PLD occurs independently as autosomal dominant polycystic liver disease (ADPLD) or as extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD). Although most patients with PLD are asymptomatic, a subset of patients will develop severe hepatomegaly affecting quality of life.1 (Source: Journal of Hepatology)
Source: Journal of Hepatology - April 9, 2024 Category: Gastroenterology Authors: Ren ée Duijzer, Melissa M. Boerrigter, Tom J.G. Gevers, Joost P.H. Drenth Tags: Hepatology Snapshot 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

Comparative hepato-ameliorative effects of Bambusa nutans fresh and fermented shoot extracts on STZ induced diabetic LACA mice
This study aims to assess the prophylactic hepatoprotective effects of fresh and fermented B. nutans shoot aqueous extract (200 mg/kg b.w.) in STZ induced diabetic LACA mice. Both extracts effectively improved body weight loss, hyperglycemia, and hepatomegaly. Fresh shoot reduced LDH activity and LPO level by 26.1% and 46.6%, while fermented shoot reduced them by 51.5% and 55.8%, respectively. The fermented shoot extract group demonstrated a noteworthy decrease in liver enzymes (SGPT, SGOT, ALP, and bilirubin levels) and an increase in albumin and A/G ratio, with more substantial improvements compared to the group treated ...
Source: Talanta - April 5, 2024 Category: Chemistry Authors: Aribam Indira Babita Joshi Ashwani Koul Nirmala Chongtham 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