Primary adrenal insufficiency in adults: 150 years after Addison [PDF]
, 2004 Thomas Addison first described, 150 years ago, a clinical syndrome characterized by salt-wasting and skin hyperpigmentation, associated with a destruction of the adrenal gland.
Alvarenga, Daniela B. de +7 more
core +4 more sources
Dorsal Raphe VIP Neurons Are Critical for Survival‐Oriented Vigilance
Advanced Science, EarlyView.DRNVIP neurons in mice and primates are strategically positioned to influence the central extended amygdala via feedback loops. They regulate the excitability of PKC‐δ neurons in the ovBNST and CeA through glutamate release. Their ablation heightens activity in these regions, disrupts active‐phase sleep architecture, enhances risk assessment behaviors ...
Adriane Guillaumin +15 more
wiley +1 more source
A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management [PDF]
, 2023 Rafał Podgórski +2 more
openalex +1 more source
Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency : a Swedish population-based national cohort study [PDF]
, 2017 CONTEXT: Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity.
Almqvist, Catarina +6 more
core +1 more source
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
Pre-hospital management of acute Addison’s Disease – Audit of patients attending a referral hospital in a regional area [PDF]
, 2019 Context: Adrenal crises (AC) cause morbidity and mortality in patients with Addison’s disease [primary adrenal insufficiency (PAI)]. Patient-initiated oral stress dosing, with parenteral hydrocortisone, is recommended to avert ACs. While these should be
Goubar, Thomas +3 more
core +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
BMC Medical Genetics, 2010 Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil +10 more
doaj +1 more source
Spectrum of molecular alterations detected in the CYP21A2 gene associated with 21-hydroxylase deficiency [PDF]
, 2018 A maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH).
Amaral, Daniela +22 more
core
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies [PDF]
, 2018 Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating
Burbelo +14 more
core +1 more source