Results 191 to 200 of about 34,346 (291)

Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed   +4 more
wiley   +1 more source

A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neonatal 48,XXYY syndrome can present with both ambiguous genitalia and Tetralogy of Fallot, a striking and previously unreported association. This case broadens the phenotypic spectrum and underscores the importance of integrating genetic and cardiac evaluation in all neonates with disorders of sex development.
Nour Gazzaz
wiley   +1 more source

Type 1 Diabetes and Other Autoimmune Diseases—Epidemiology, Pathophysiology and Screening

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 1, January 2026.
Individuals with type 1 diabetes exhibit significantly increased prevalence of additional autoimmune diseases. Epidemiological, familial and mechanistic evidence indicates frequent polyautoimmunity and shared genetic and environmental drivers. Coexistence complicates clinical management, and autoantibody‐based detection often identifies preclinical ...
George J. Kahaly   +6 more
wiley   +1 more source

Prurigo Pigmentosa Following Bariatric Surgery: A Comprehensive Clinicopathological Review. [PDF]

open access: yesDermatol Res Pract
Nagshabandi KN   +5 more
europepmc   +1 more source

Hyperpigmentation along Blaschko lines

open access: diamond, 2015
Sumit Sethi   +3 more
openalex   +1 more source

Case report: dermoscopic and histological aspects of skin graft and perigraft hyperpigmentation in acral location [PDF]

open access: gold, 2014
Bruna Tuma   +4 more
openalex   +1 more source

Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High‐Risk Pediatric Populations

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Early genetic screening for Fanconi anemia in high‐risk pediatric populations enables timely diagnosis and intervention, significantly improving patient outcomes. Our study highlights the prevalence of undiagnosed cases and the critical role of FANCA gene mutations in effective screening strategies. ABSTRACT Introduction Fanconi anemia (FA) is the most
Adnan A. Sedeeq Al‐Doski
wiley   +1 more source

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