Results 81 to 90 of about 29,638 (237)

Etiological evaluation of primary congenital hypothyroidism cases

, 2017
Aim: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to ...
Nese Torun, Dilek, Emine, Digdem Bezen, Bezen, Digdem, Emine Dilek, Tutunculer, Filiz, Torun, Nese, Filiz Tutunculer   +7 more
core   +1 more source

Neonatal screening: 9% of children with filter paper thyroid‐stimulating hormone levels between 5 and 10 μIU/mL have congenital hypothyroidism

Jornal de Pediatria (Versão em Português), 2017
Objectives: To determine the prevalence of congenital hypothyroidism in children with filter paper TSH levels (f‐TSH) between 5 and 10 μUI/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010,
Flávia C. Christensen‐Adad, Carolina T. Mendes‐dos‐Santos, Maura M.F. Goto, Letícia E. Sewaybricker, Lília F.R. D'Souza‐Li, Gil Guerra‐Junior, André M. Morcillo, Sofia Helena V. Lemos‐Marini   +7 more
doaj   +1 more source

Codocytosis in the Dog: 345 Cases (2020–2022)

Veterinary Clinical Pathology, EarlyView.
ABSTRACT Introduction Codocytes, or target cells, are a morphologic variation of erythrocytes characterized by increased membrane surface area relative to volume. In dogs, codocytosis is frequently noted on blood smear evaluation, but its clinical significance remains poorly understood. Objectives To characterize the clinical conditions associated with
Sarena M. Krojanker, Maria Jaramillo, Brad D. Cingolani, Floyd L. Williams Jr., Priscila B. S. Serpa, Andrew D. Woolcock   +5 more
wiley   +1 more source

Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism [PDF]

, 2017
Congenital hypothyroidism, defined as the functional deficiency of thyroid hormones present at birth, occurs in approximately 1: 2,000 to 4,000 newborns. Thyroid hormones play an essential role in the maturation of the central nervous system.
Nicola JP, Nicola, Juan Pablo
core   +1 more source

The congenital hypothyroidism: the incidence and clinical features of different forms

Mìžnarodnij Endokrinologìčnij Žurnal, 2017
Background. Congenital hypothyroidism (CH) as the most common hereditary thyroid pathology is a serious social, economic and psychological burden for a family, where the sick child was born, as well as for the society.
T.V. Sorokman
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Specific and Non-Specific Thalamocortical Afferents to the Whisker–Related Sensory Cortical Region in Rats with Congenital Hypothyroidism [PDF]

Journal of Kerman University of Medical Sciences, 2015
Background & Aims: Thyroid hormones are of great importance in the development of the central nervous system. Congenital hypothyroidism may affect the reorganization of specific and non-specific thalamocortical afferents to whisker–related sensory (wS1 ...
Mohammad-Reza Afarinesh, Gila Behzadi
doaj  

Zebrafish duox mutations provide a model for human congenital hypothyroidism

Biology Open, 2019
Thyroid dyshormonogenesis is a leading cause of congenital hypothyroidism, a highly prevalent but treatable condition. Thyroid hormone (TH) synthesis is dependent on the formation of reactive oxygen species (ROS).
Kunal Chopra, Shoko Ishibashi, Enrique Amaya   +2 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Screening for congenital hypothyroidism in Hong Kong

, 1986
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, C. Y. YEUNG, T. L. KWOK, Kwok, TL, Cheung, PT, Lin, HJ, S. Y. CHU, J. BACON‐SHONE, Chu, SY, H. J. LIN, Low, LCK, L C. K. LOW, P. T. CHEUNG, Lee, FT, Bacon-Shone, J, F. T. LEE   +15 more
core   +1 more source