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Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFClinical Epidemiology, Etiology, and Outcomes of Upper Gastrointestinal Bleeding at a Tertiary Center in Bahrain: A Retrospective Study.
Cureus
January 2025
Department of Gastroenterology and Hepatology, Salmaniya Medical Complex, Manama, BHR.
Background Upper gastrointestinal bleeding (UGIB) is one of the most common major medical emergencies. This study sought to determine the epidemiology, clinical characteristics, and outcomes of UGIB in the largest major tertiary care center in Bahrain, compared to regional and international cohorts. Methods We conducted a retrospective cohort study of all patients diagnosed with UGIB between April 2021 and April 2022 in Salmaniya Medical Complex, Bahrain's largest tertiary-level public hospital.
View Article and Find Full Text PDFCytomegalovirus Infection in an Immunocompetent Host Presenting as Hemophagocytic Lymphohistiocytosis.
Eur J Case Rep Intern Med
December 2024
Department of Internal Medicine, Hospital de Santa Maria, ULS de Santa Maria, Lisbon, Portugal.
Unlabelled: Cytomegalovirus (CMV) is a human herpes virus with a worldwide seroprevalence of 60-100%, mainly known to cause severe life-threatening disease in immunocompromised patients. In immunocompetent hosts (IMCh), CMV causes a self-limiting mononucleosis-like infection, and severe pictures are less recognized. We report a case of a previously healthy 62-year-old woman evaluated in the Internal Medicine outpatient clinic for 3 weeks of progressive fatigue, generalised inflammatory arthralgias, hypogastric discomfort and daily persistent fever.
View Article and Find Full Text PDFAnaemia of Inflammation Preceding Dyspnoea, Dry Cough and Weight Loss in Primary Pulmonary Lymphoma.
Eur J Case Rep Intern Med
December 2024
The Faculty of Medicine, Hebrew University and Hadassah Medical School, Jerusalem, Israel.
Introduction: There is little information in the literature on the early, sub-clinical stage and laboratory test results in patients with primary mucosa-associated lymphoid tissue (MALT) lymphoma of the lung, a rare disease.
Case Description: In a 75-year-old man, an open lung biopsy-confirmed diagnosis of primary pulmonary lymphoma was preceded by almost six months of anaemia of inflammatory disease and monocytosis without any pulmonary symptoms. When he developed a dry cough, increasing dyspnoea and marked weight loss, these changes deepened and became associated with reactive thrombocytosis; markedly increased ferritin and C-reactive protein (positive acute-phase reactants), as well as reduced albumin and transferrin (negative acute-phase reactants).
An analysis on role of iron deficiency in febrile seizure among children in 6 months to 5 years: A case-control study.
J Family Med Prim Care
December 2024
Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Tamil Nadu, India.
Background For The Study: This study looks into the relationship between febrile seizures in children between the ages of 6 months to 5 years who suffer from iron insufficiency. Febrile seizures, which are common in early life, are associated with abrupt temperature increases, and iron deficiency impacts neurological development in young infants. Understanding this relationship would lead to interventions that mitigate febrile seizure impact.
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