Quantifying the risk of drug-associated skin hyperpigmentation relative to the general population: A national cohort study using TriNetX. [PDF]
Cheng D +7 more
europepmc +1 more source
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
Primary adrenocortical insufficiency in patients with AIDS in Wuhan, China: 3 cases report and literature review. [PDF]
Zhai H +7 more
europepmc +1 more source
A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot
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
Post-corneal tattooing trigeminal nerve-distributed hyperpigmentation: a case report. [PDF]
Alsuliman N, Alruwaili S.
europepmc +1 more source
Type 1 Diabetes and Other Autoimmune Diseases—Epidemiology, Pathophysiology and Screening
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]
Nagshabandi KN +5 more
europepmc +1 more source
Case report: dermoscopic and histological aspects of skin graft and perigraft hyperpigmentation in acral location [PDF]
Bruna Tuma +4 more
openalex +1 more source
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

