Results 61 to 70 of about 613,154 (335)
Investigation of Risk Factors of Congenital Hypothyroidism in Children in Southwestern Iran
Global Pediatric Health, 2022 Due to the fact that congenital hypothyroidism is one of the preventable causes of mental retardation, so this study was conducted to determine the risk factors in children with congenital hypothyroidism.
Ashrafalsadat Hakim
doaj +1 more source
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
Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population
Frontiers in Genetics, 2018 To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn ...
Bin Yu +6 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 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
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
PLoS ONE, 2018 Objective Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients’ inclusion criteria and bioinformatics. The objective was to study the molecular basis of
N. Makretskaya +9 more
semanticscholar +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
Congenital Hypothyroidism Associated with Maternal Hypothyroidism and Iodine Deficiency During Pregnancy [PDF]
Walawalkar International Medical Journal, 2017 Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck.
Smita Kargutkar-Ajgaonkar
doaj
Glycosylation in the thyroid gland : vital aspects of glycoprotein function in thyrocyte physiology and thyroid disorders [PDF]
, 2018 The key proteins responsible for hormone synthesis in the thyroid are glycosylated. Oligosaccharides strongly affect the function of glycosylated proteins.
Ewa Pocheć +2 more
core +1 more source
A frequent oligogenic involvement in congenital hypothyroidism.
Human Molecular Genetics, 2017 Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in
T. De Filippis +17 more
semanticscholar +1 more source