Results 101 to 110 of about 295,712 (230)
Screening for congenital hypothyroidism in Hong Kong
A pilot cord blood TSH screening program for congenital hypothyroidism was commenced in Hong Kong in April 1982. By April 1984, 14,411 neonates born in two hospitals were screened for this disorder.
Yeung, CY +15 more
core +1 more source
Congenital Hypothyroidism With Isolated Fibula Agenesis
Although congenital hypothyroidism is seen often as an isolated case, it can also be seen as a part of some syndromes like Schinzel-Giedion, Aicardi-Goutieres-like, cleidocranial dysplasia and deletion of 18q.
Caksen, Hueseyin +5 more
core +1 more source
Analysis of Genetic Factors in a Family With Short Stature
We identified pathogenic variants of two different genes, COL1A2 and GH1, in a family with short stature through trio‐WES, thereby providing a clear genetic diagnosis for this family. ABSTRACT Background To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.
Siqing Zhang +4 more
wiley +1 more source
Preterm children show high attention‐deficit/hyperactivity disorder (ADHD) prevalence and frequent sensory processing alterations. ADHD is associated with more severe impairments, particularly in sensory sensitivity, auditory processing, and behavioral domains.
Marina Estima Neiva Nunes +6 more
wiley +1 more source
Prevalence of Transient and Permanent Congenital Hypothyroidism in Mazandaran Province
Background and purpose: Congenital hypothyroidism (CH) is one of the most common preventable causes of mental disabilities. The present study was conducted to determine the prevalence of permanent and transient congenital hypothyroidism in Mazandaran ...
zahra Beheshti +4 more
doaj
Healthy Aging Men Do Not Suffer From Relevant Limitations of Their Reproductive Functions
ABSTRACT Background While metabolic disorders are well‐established contributors to testosterone decline and erectile dysfunction (ED), little is known about the natural progression of reproductive parameters in healthy aging men. Objectives This study aimed to evaluate longitudinal changes in reproductive parameters and sought to determine the ...
Simone Bier +8 more
wiley +1 more source
BackgroundVinblastine is a widely used chemotherapeutic agent for various cancers. We report a case of transient congenital hypothyroidism following maternal exposure to vinblastine during the third trimester of pregnancy and propose possible mechanisms ...
Zubair Amin +4 more
doaj +1 more source
When to consider an inborn error of immunity: clues for physicians
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
Congenital central hypothyroidism: Diagnostics and pathogenesis [PDF]
The focus of the studies described in this thesis lies on diagnostics and pathogenesis of con- genital central hypothyroidism. The importance of, and difficulties in diagnosing congenital central hypothyroidism are emphasized.
Zwaveling-Soonawala, N. +1 more
core +2 more sources
Background: Considering the role of maternal TSH receptor blocking Ab (TRAb) in the etioligy of congenital hypothyroidism, the aim of this research was to determine its role among congenital hypothyroidism (CH) in Isfahan.
Shima Salehi Abari +6 more
doaj

