Results 111 to 120 of about 54,890 (322)

A Computational Framework for Atrioventricular Valve Modeling using Open-Source Software [PDF]

arXiv, 2022
Atrioventricular valve regurgitation is a significant cause of morbidity and mortality in patients with acquired and congenital cardiac valve disease. Image-derived computational modeling of atrioventricular valves has advanced substantially over the last decade and holds particular promise to inform valve repair in small and heterogeneous populations ...
arxiv  

Assisted Reproduction in Congenital Adrenal Hyperplasia

Frontiers in Endocrinology, 2019
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
A. Chatziaggelou, E. Sakkas, R. Votino, M. Papagianni, G. Mastorakos   +4 more
semanticscholar   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Evaluation of cinematic volume rendering open-source and commercial solutions for the exploration of congenital heart data [PDF]

arXiv, 2023
Detailed anatomical information is essential to optimize medical decisions for surgical and pre-operative planning in patients with congenital heart disease. The visualization techniques commonly used in clinical routine for the exploration of complex cardiac data are based on multi-planar reformations, maximum intensity projection, and volume ...
arxiv  

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Archives of Disease in Childhood, 2019
Background In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting ...
A. A. van der Linde, Y. Schönbeck, H. J. van der Kamp, E. L. van den Akker, M. V. van Albada, A. Boelen, M. Finken, S. Hannema, Gera Hoorweg-Nijman, R. Odink, P. Schielen, Saartje Straetemans, P. V. van Trotsenburg, H. Claahsen-van der Grinten, P. Verkerk   +14 more
semanticscholar   +1 more source

Testosterone and men's health: An in‐depth exploration of their relationship

UroPrecision, Volume 3, Issue 1, Page 36-46, March 2025.
Abstract Testosterone plays a pivotal role in male health throughout the lifespan. Men generally exhibit higher serum testosterone levels than women, influencing critical aspects of male physiology. It drives normal sexual differentiation during fetal development, promotes the acquisition of pubertal traits, and induces the development of secondary ...
Aksam Yassin, Raed M. Al‐Zoubi, Raidh Talib Alzubaidi, Hatem Kamkoum, Ayman A. Zarour, Khalil Garada, Mai Elaarag, Ahmad R. Al‐Qudimat, Zainab E. Fares, Abdulla A. Al‐Ansari   +9 more
wiley   +1 more source

Intradialytic hypertriglyceridemia can be associated with priapism: A case report of congenital adrenal hyperplasia with kidney failure

Український Журнал Нефрології та Діалізу
Data on kidney failure in patients with congenital adrenal hyperplasia are rare. To the best of our knowledge, there is no data on how to manage patients with congenital adrenal hyperplasia during hemodialysis sessions.
Nabadwip Pathak, Sunil Kumar Nanada, Moses Ambriose   +2 more
doaj   +1 more source

Klitoroplastika in congenital adrenal hyperplasia

Андрология и генитальная хирургия, 2014
Given observation successful klitoroplastika by the original method in a patient with congenital adrenal hyperplasia and klitoromegalia.
V. V. Mikhaylichenko, V. N. Fesenko, A. I. Novikov, O. A. Murtazaaliev   +3 more
doaj   +3 more sources

Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.

Acta Biochimica Polonica, 2018
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize ...
Rafał Podgórski, D. Aebisher, M. Stompor, D. Podgórska, A. Mazur   +4 more
semanticscholar   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources