Results 61 to 70 of about 79,565 (318)

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

, 2005
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC, Hiort, O, Holterhus, PM, Hoppe, U, Marschke, C, Partsch, CJ, Riepe, FG, Struve, D, Werner, R   +8 more
core   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Primary adrenal lymphoma as a cause of adrenal insufficiency, a report of two cases

Endocrinology, Diabetes & Metabolism Case Reports, 2020
Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. More than 90% is of B-cell origin. The condition is bilateral in up to 75% of cases, with adrenal insufficiency in two of three patients.
Kaja Grønning, Archana Sharma, Maria Adele Mastroianni, Bo Daniel Karlsson, Eystein S Husebye, Kristian Løvås, Ingrid Nermoen   +6 more
doaj   +1 more source

Efficacy, Safety, Pharmacokinetics, and Immunogenicity of ABBV‐154 in Adults With Glucocorticoid‐Dependent Polymyalgia Rheumatica: A Phase 2, Randomized, Double‐Blind, Placebo‐Controlled Trial

Arthritis &Rheumatology, EarlyView.
Objective An unmet need exists for glucocorticoid‐sparing treatments for patients with polymyalgia rheumatica (PMR). The antibody‐drug conjugate ABBV‐154 comprises adalimumab conjugated to a glucocorticoid receptor modulator. We evaluated ABBV‐154 versus placebo in patients with glucocorticoid‐dependent PMR.
Robert F. Spiera, Valerie Devauchelle‐Pensec, Claire E. Owen, Federico Díaz‐González, Tsutomu Takeuchi, Edit Drescher, Jaclyn Anderson, Dilek Arikan, Ronilda D'Cunha, Julie Parmentier, Denise T. Kruzikas, Weihan Zhao, Yang Yang, Karen Stellpflug, Frank Buttgereit   +14 more
wiley   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

Arthritis &Rheumatology, Accepted Article.
Summary Castleman disease (CD) is a major diagnostic challenge for Rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y.C. Chen, Lu Zhang, David C. Fajgenbaum   +2 more
wiley   +1 more source

Novel Sulfonylhydrazones With Sulfonate Ester Framework: Promising Dual Inhibitors of AChE and hCAs

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a progressive neurodegenerative disorder that affects millions of individuals worldwide. Treatment strategies for AD vary depending on cognitive and behavioral symptoms, with cholinergic replacement therapy using acetylcholinesterase (AChE) inhibitors being one of the primary approaches.
Cansu Öztürk, Neslihan Balci, Osman Nuri Aslan, Erbay Kalay   +3 more
wiley   +1 more source

Pediatric Adrenal Insufficiency: Challenges and Solutions

Therapeutics and Clinical Risk Management, 2022
Daniela Nisticò,1 Benedetta Bossini,1 Simone Benvenuto,1 Maria Chiara Pellegrin,1 Gianluca Tornese2 1University of Trieste, Trieste, Italy; 2Department of Pediatrics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste ...
Nisticò D, Bossini B, Benvenuto S, Pellegrin MC, Tornese G   +4 more
doaj  

A rare occurrence of central precocious puberty in adrenal hypoplasia congenita

Sri Lanka Journal of Medicine, 2020
AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in the DAX1 gene. It traditionally causes hypogonadotropic hypogonadism.
Rajesh Joshi, Karthik Shroff
doaj   +1 more source

Pharmacokinetics of betamethasone in pre‐eclampsia: An in vivo and ex vivo study

British Journal of Clinical Pharmacology, EarlyView.
Aims To enhance understanding of betamethasone and its metabolites' pharmacokinetics in pregnancy, specifically early‐onset pre‐eclampsia, through a population pharmacokinetic model. Additionally, to investigate the placental metabolism and transfer of betamethasone and its main metabolites.
Sam Schoenmakers, Letao Li, Anna C. M. Kluivers, Michelle Broekhuizen, Madhavi S. Harhangi, A. H. Jan Danser, Irwin Reiss, Karel Allegaert, Sjoerd A. A. van den Berg, Bertrand D. van Zelst, Ron H. N. van Schaik, Philip L. J. DeKoninck, Emma Ronde, Sebastiaan D. T. Sassen, Sinno H. P. Simons, Birgit C. P. Koch   +15 more
wiley   +1 more source

A Case of primary adrenal lymphoma presenting with adrenal insufficiency

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Non-Hodgkin lymphoma (NHL) with secondary involvement of the adrenal gland is not uncommon, however primary adrenal lymphoma leading to adrenal insufficiency is a rare occurrence.
G.P. Samarasinghe, C.N. Antonypillai, U.P. Kalubowila, R.M.P. Ratnayake, E.M.S.B. Ekanayake, B.M.I.K. Thilakarathne   +5 more
doaj   +1 more source