Results 11 to 20 of about 11,542 (205)

Factors affecting the quality of life of adults living with congenital adrenal hyperplasia: a qualitative study of lived experience [PDF]

Endocrine Connections
Objective: Congenital adrenal hyperplasia (CAH) is a genetic condition caused by enzymatic defects of adrenal steroidogenesis. The physical manifestations of CAH are well recognised, but the effects on health-related quality of life (HRQoL) are unclear ...
K Lynette James, Nicola Parkin, Sue Elford, Christine McKnight, Rhiannon Phillips, Timothy Pickles, S Faisal Ahmed, Nils Krone, Sofia Llahana, Michael W O’Reilly, Jeremy W Tomlinson, D Aled Rees   +11 more
doaj   +2 more sources

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency [PDF]

Frontiers in Endocrinology
BackgroundDefects in both CYP21A2 and TNXB genes cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers–Danlos syndrome (EDS), which has been named CAH-X syndrome.ObjectiveThis study aimed to determine the frequency of CAH-X within ...
Andrea Sappl, Annie M. Sriramachandran, Christian Lottspeich, Katharina Vill, Monika Morak, Ann-Christin Welp, Orsela Dervishi, Martin Bidlingmaier, Sonja Kunz, Nicole Reisch   +9 more
doaj   +2 more sources

Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype [PDF]

Orphanet Journal of Rare Diseases
Background To conduct long-read sequencing (LRS) testing for molecular diagnosis of CAH-X syndrome. This study collected clinical data and evaluated the phenotypes of Ehlers-Danlos syndrome (EDS) in 20 cases of 21-hydroxylase deficiency (21-OHD) children
Zhen Li, Shiyi Xu, Qingxian Fu, Lingling Du, Qiuting Lin, Hongjie Lin, Huishu E., Hui Liu   +7 more
doaj   +2 more sources

Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot

Endocrine Connections, 2022
Neonatal screening for congenital adrenal hyperplasia (CAH) faces many specific challenges. It must be done using a performant analytical approach that combines sensitivity and specificity to capture the potential causes of mortality during the first ...
Muriel Houang, Thao Nguyen-Khoa, Thibaut Eguether, Bettina Ribault, Séverine Brabant, Michel Polak, Irène Netchine, Antonin Lamazière   +7 more
doaj   +1 more source

An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia

Endocrine Connections, 2023
First-trimester prenatal treatment with glucocorticoid (GC) dexamethasone (DEX) in pregnancies at risk for classic congenital adrenal hyperplasia (CAH) is associated with ethical dilemmas.
Annelies van’t Westeinde, Leif Karlsson, Valeria Messina, Lena Wallensteen, Manuela Brösamle, Giorgio Dal Maso, Alessandro Lazzerini, Jette Kristensen, Diana Kwast, Lea Tschaidse, Matthias K Auer, Hanna F Nowotny, Luca Persani, Nicole Reisch, Svetlana Lajic   +14 more
doaj   +1 more source

Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study [PDF]

Endocrinology and Metabolism, 2022
Background Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents.
Jung Hee Kim, Sunkyu Choi, Young Ah Lee, Juneyoung Lee, Sin Gon Kim   +4 more
doaj   +1 more source

Variation in serum adrenal hormones in female 21-hydroxylase deficient patients

Endocrine Connections, 2022
Background: There is no consensus regarding markers of optimal treatment or timing between glucocorticoid intake and assessment of hormone levels in the follow-up of female 21-hydroxylase deficient patients.
Ditte Sofie Dahl Sørensen, Jesper Krogh, Åse Krogh Rasmussen, Mikkel Andreassen   +3 more
doaj   +1 more source

CAH to CAH [PDF]

Applied Clinical Informatics, 2014
SummaryThe US government allocated $30 billion to implement electronic health records (EHRs) in hospitals and provider practices through policy addressing Meaningful Use (MU). Most small, rural hospitals, particularly those designated as Critical Access Hospitals (CAHs), comprising nearly a quarter of US hospitals, had not implemented EHRs before ...
C K, Craven, M C, Sievert, L L, Hicks, G L, Alexander, L B, Hearne, J H, Holmes   +5 more
openaire   +2 more sources

Congenital adrenal hyperplasia. Role of dentist in early diagnosis

Open Medicine, 2022
Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by an impairment of steroid synthesis due to an altered production of 21-hydroxylase enzyme. Corticoid hormones are involved in the development and functioning of many organs.
Di Cosola Michele, Spirito Francesca, Zhurakivska Khrystyna, Nocini Riccardo, Lovero Roberto, Sembronio Salvatore, Santacroce Luigi, Brauner Edoardo, Storto Giovanni, Lo Muzio Lorenzo, Cazzolla Angela Pia   +10 more
doaj   +1 more source

Terahertz spectroscopy of CaH

Chemical Physics Letters
Stephen Ross
exaly   +2 more sources