Results 61 to 70 of about 295,712 (230)

Comparison of health-care coverage between children with congenital hypothyroidism and healthy children in Iran [PDF]

مجله علمی دانشگاه علوم پزشکی کردستان, 2018
Background and Aim: Provision of timely healthcare for children under 5 years of age specially children with congenital hypothyroidism and also regular monitoring of growth through measuring weight, height and head circumference have been of great ...
Khaled Rahmani, Hamid, Shahin Yarahmadi, Y. Mehrabi, Nasrin Aghang,   +5 more
doaj   +1 more source

Internal Jugular Vein as an Alternative Access for Pacemaker Implantation: A Mostly Left IJ Case Series

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background Leadless pacemakers traditionally rely on femoral venous access, which may be limited in patients with unfavorable IVC anatomy, prior interventions, or situations where preserving femoral access is preferred. Internal jugular (IJ) access offers an alternative route, but real‐world data on IJ implantation of single‐ and dual‐chamber ...
Maya Asami Takagi, William Leon, Colin Mackenzie, Daniel Cortez   +3 more
wiley   +1 more source

UvA-DARE (Digital Academic Repository) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism Link to publication Citation for published version (APA): INACTIVATING MUTATIONS IN THE GENE FOR THYROID OXIDASE 2 ( THOX

, 2020
. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England journal of medicine, 347(2), 95-102.
Mutations, Congenital
core   +1 more source

Predictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose To identify clinical predictors of permanent congenital hypothyroidism (PCH) and transient congenital hypothyroidism (TCH). Methods This retrospective cohort study enrolled neonates with risk factors for congenital hypothyroidism as diagnosed by ...
Niki Dermitzaki, Vasileios Giapros, Marianna Deligeorgopoulou, Vasiliki Rengina Tsinopoulou, Eleni Kotanidou, Maria Baltogianni, Foteini Balomenou, Anastasios Serbis   +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

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

High risk of congenital hypothyroidism in multiple pregnancies.

, 2007
CONTEXT: In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now, about 3600 infants with CH are recorded in the INRICH, and a high number of twins are included ...
Stazi MA, Medda E, De Angelis S, Fazzini C, Cascino I, Cordeddu V, Sorcini M, Olivieri A, De Felice M, the Study Group for Congenital Hypothyroidism, Valensise H   +10 more
core  

Review of the risks and/or benefits of thyroxine treatment in ‘mild’ subclinical hypothyroidism [PDF]

, 2013
Subclinical hypothyroidism (SCH) is a form of mild thyroid failure and is a commonly encountered condition in clinical practice. It denotes the presence of a raised serum thyroid stimulating hormone (TSH) and normal serum free thyroid hormone ...
Agius, Rachel
core  

Werdnig-Hoffmann disease with congenital hypothyroidism

, 2003
Congenital hypothyroidism is often associated with other congenital anomalies. In some instances it is difficult to differentiate congenital hypothyroidism from Werdnig-Hoffmann's disease.
Kurtoglu, Selim, Kumandaş, Sefer, Akçakuş, Mustafa, Çetin, Neşide, Güneş, Tamer   +4 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source