Results 81 to 90 of about 940,867 (195)

A study of the etiology of transient congenital hypothyroidism in Niigata Prefecture, Japan [PDF]

Int J Pediatr Endocrinol, 2013
Background Several conditions have been known to causetransient congenital hypothyroidism (TCH), including transplacental passage of TSH receptor blocking antibody (TSBAb), maternal antithyroid drug usage, iodine deficiency, iodine excess, fetal prematurity and inactivatingDUOX2mutations.
Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A.   +8 more
europepmc   +3 more sources

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

Thyrotrophin-blocking antibodies in congenital hypothyroidism

, 1992
The role of transplacental transfer of maternal thyrotrophin (TSH)-blocking antibodies causing congenital hypothyroidism in Southern Chinese children was examined in this study.
Kung, AWC, Low, LCK
core   +1 more source

The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism [PDF]

, 2009
All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease.
Casini, M. R., Liotta, A., Volta, C., Altamura, R., Sorcini, M., Tato', L., PINCHERA, ALDO, Stazi, M. A., Stoppioni, V., Manente, G., Cassio, A., Salerno, M. C., Palillo, L., Angeloni, U., OLIVIERI, ANTONELLA, Bona, G., Chiarelli, F., Dammacco, F., Leonardi, D., Olivieri Antonella, Caldarera, R., De Santis, C., Fazzini, C., Minelli, G., Baserga, M., Cesaretti, G., Rizzo, A., Burroni, M., Coppola, A., Chiumello, G., Calaciura, F., Correra, A., Salti, R., Olivieri, A., Costa, P., null null, Sala, D., De Luca, F., Berardi, R., Pizzolante, M., Gastaldi, R., Pasquini, E., Gallicchio, G., Pagliardini, S., Lelli, A., Corbetta, C., Vigneri, R., Bucci, I., Medda, E., Cherubini, V., Parlato, G., Cordova, R., Grasso, G., Antonella Olivieri, Cavallo, L., Loche, S., TONACCHERA, MASSIMO, Antonozzi, I., Caruso, U., Study Group for, Congenital Hypothyroidism, Lorini, R., Monaco, F., Radetti, G., Musaro', M. A., Cicchetti, M., Vigone, M. C., Gurrado, R., Moschini, L., Vignola, G., Di Maio, S., Cappa, M., Ciccio', M. P., Sava, L., Cerone, R., Cicognani, A., Bernasconi, S., SAGGESE, GIUSEPPE, Narducci, T., Scognamiglio, D., Weber, G., Lasciarrea, L., Righetti, F., De Angelis, S., Peruzzi, L., DE LUCA, Filippo, Olivieri A   +85 more
core   +1 more source

Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center

Journal of the Formosan Medical Association, 2020
Background/purpose: Thyroid disorders are common in children with Down syndrome (DS), however, such data have rarely been reported in Taiwanese children. This study presents our experience with the management of these children.
Ming-Yu Liu, Cheng-Ting Lee, Ni-Chung Lee, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Yu Tsai   +6 more
doaj   +1 more source

A multicenter, controlled, randomized trial of home‐applied dual‐light photodynamic therapy in stage I to III periodontitis (LumoNorth2022 study)

Journal of Periodontology, Volume 97, Issue 10, Page 2056-2066, October 2026.
Abstract Background Periodontitis is a widespread, chronic infection‐triggered inflammatory condition in which professional supportive periodontal care (SPC) and daily oral hygiene form the backbone to reduce the disease activity. Light‐based treatments have shown promising antibacterial effects, but their potential for routine home use has not been ...
Paula Tegelberg, Meeri Ojala, Merja Ylipalosaari, Jori Lindroth, Anna Maria Heikkinen, Hanna Lähteenmäki, Saila Pakarinen, Ismo T. Räisänen, Timo Sorsa, Tommi Pätilä   +9 more
wiley   +1 more source

Congenital Hypothyroidism

, 2017
Congenital hypothyroidism (CH) results from the effects of insufficient thyroid hormone on the developing fetus and infant, and is characterized by severe intellectual disability and growth inhibition. CH can result from maternal iodine deficiency, which
Mary Lee Gregory
core   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

OUTCOME OF 3 SIBLINGS WITH ANTIBODY-MEDIATED TRANSIENT CONGENITAL HYPOTHYROIDISM [PDF]

Pediatric Research, 1993
Transient neonatal hypothyroidism due to transplacental transfer of maternal TSH receptor blocking antibodies (TBIIs) is a rare cause of congenital hypothyroidism. A woman with hypothyroidism secondary to Hashimoto's thyroiditis diagnosed and treated since age 15 y delivered three babies at age 21, 23 and 25 y.
D Pacaud, C Huot, A Gattereau, R S Brown, J Glorieux, J H Dussault, G Van Vliet   +6 more
openaire   +1 more source

Permanent Congenital Hypothyroidism in Very Low Birth Weight Infants: A Single Center’s Experience [PDF]

Neonatal Medicine
Purpose Congenital hypothyroidism (CH) is a major preventable cause of intellectual disability, particularly in very low birth weight (VLBW) infants, who are at increased risk due to hypothalamic-pituitary-thyroid axis immaturity.
Joo Hyung Roh, Tae-Gyeong Kim, Keon Hee Seol, Chae Young Kim, Soo Hyun Kim, Ji Yoon Jeong, Ja Hye Kim, Euiseok Jung, Jin-Ho Choi, Byong Sop Lee   +9 more
doaj   +1 more source