Results 41 to 50 of about 44,026 (275)

Frequency of congenital hypothyroidism in new born admitted with neonatal jaundice at tertiary care hospital peshawar

Journal of Rawalpindi Medical College, 2023
Neonatal jaundice is a common disorder worldwide affecting 30-70% of newborn infants. Severe neonatal jaundice and its progression to kernicterus is a leading cause of death and disability among newborns in poorly-resourced countries. OBJECTIVES: To
Abdul Ahad, Romana Bibi, Sijad Ur Rehman, Majid Ali Shah, Matea Ullah, Shahinda   +5 more
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

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, Kamila Kozłowska, Marta Ząbczyńska   +2 more
core   +1 more source

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

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 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  

Visualizing Turner Syndrome

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, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

a novel mutation with mild clinical presentation [PDF]

, 2015
Background A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders.
Cantasano, Antonella, Cassio, Alessandra, Krude, Heiko, Monti, Sara, Nicoletti, Annalisa   +4 more
core   +1 more source

Influence of socioeconomic factors on the perception of cochlear-vestibular symptoms and adherence to the treatment of congenital hypothyroidism

Revista Brasileira de Saúde Materno Infantil
Objectives: to verify if there is an association between socioeconomic factors and adherence to treatment in congenital hypothyroidism and to verify if there is an association between socioeconomic factors and vestibulocochlear symptoms noticed by ...
Gabriela Carvalho Machado, Caio Leônidas Oliveira Andrade, Ingrid Sampaio Souza, Luan Paulo Franco Magalhães, Luciene da Cruz Fernandes   +4 more
doaj   +1 more source

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, EarlyView.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source