Results 121 to 130 of about 54,890 (322)

Quantitative analysis of the potential role of basal cell hyperplasia in the relationship between clonal expansion and radon concentration [PDF]

arXiv, 2018
Applying the two-stage clonal expansion model to epidemiology of lung cancer among uranium miners, it has been revealed that radon acts as a promoting agent facilitating the clonal expansion of already mutated cells. Clonal expansion rate increases non-linearly by radon concentration showing a plateau above a given exposure rate.
arxiv  

Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome [PDF]

arXiv, 2020
Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital ...
arxiv  

Gonadal function in adult male patients with congenital adrenal hyperplasia.

European Journal of Endocrinology, 2018
CONTEXT Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers.
M. Engels, Katharina Gehrmann, Henrik Falhammar, Emma A Webb, A. Nordenström, F. Sweep, P. Span, A. E. Herwaarden, J. Rohayem, Annette Richter-Unruh, C. Bouvattier, Birgit Koehler, Barbara B.M. Kortmann, Wiebke Arlt, N. Roeleveld, N. Reisch, N. Stikkelbroeck, H. C. D. Grinten   +17 more
semanticscholar   +1 more source

Saliva Sampling in Children and Young People: Acceptability and Reliability Data From Three Exploratory Studies

Clinical Endocrinology, Volume 102, Issue 5, Page 554-556, May 2025.
Olivia Buckingham‐Woodhouse, Lily Jones, Julie Park, Silothabo Dliso, Orla Bright, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +8 more
wiley   +1 more source

Adrenal steroid hormone responses to exercise under thermal stress: Potential role for nonclassic congenital adrenal hyperplasia in heat illness susceptibility

Physiological Reports, Volume 13, Issue 6, March 2025.
Abstract We queried whether adrenal insufficiency attributable to non‐classic congenital adrenal hyperplasia (21 hydroxylase deficiency, 21OHD) might contribute to heat illness susceptibility. Patients referred to a specialist heat illness clinic (n = 2 with prior hyponatremia; n = 16 lacking documentary evidence) and controls (n = 16) underwent ...
Michael J. Stacey, Carol House, Daniel Roiz de Sa, Stephen J. Brett, Christopher Boot, Andrew Teggert, Adrian J. Allsopp, David R. Woods   +7 more
wiley   +1 more source

Molecular Analysis Of Cyp21 Gene In Patients Presenting With Ambiguous Genitalia. [PDF]

, 2002
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal ...
Anida, A. Rus, Fuziah, M Z, Isa, M N, Ramli, S F, Sidek, M R, Yulia, K M   +5 more
core  

Non-classical congenital adrenal hyperplasia presenting as primary amenorrhoea with virilization [PDF]

, 2017
Primary amenorrhea presents a diagnostic challenge even to the most experienced clinicians. The number, variety and the complexity of disorder that must be considered can seem daunting and in many instances include unfamiliar organ system.
CS, Beeresh, Doopadapalli, Divyasree, Lingegowda, Krishna, Ray, Amita   +3 more
core   +2 more sources

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

Deep-learning models improve on community-level diagnosis for common congenital heart disease lesions [PDF]

arXiv, 2018
Prenatal diagnosis of tetralogy of Fallot (TOF) and hypoplastic left heart syndrome (HLHS), two serious congenital heart defects, improves outcomes and can in some cases facilitate in utero interventions. In practice, however, the fetal diagnosis rate for these lesions is only 30-50 percent in community settings. Improving fetal diagnosis of congenital
arxiv  

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Definitions, 2019
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands.
H. Pişkinpaşa, S. Doğanşen, Ilkay Cakir, Y. Akdeniz, A. Esen, E. Bozkur, M. Mert   +6 more
semanticscholar   +1 more source