Results 21 to 30 of about 29,638 (237)

Congenital hypothyroidism: a case report of an Egyptian child with congenital heart disease, pelvic kidney and cavernous transformation of portal vein

Egyptian Journal of Medical Human Genetics, 2023
Background A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function.
Heba Elsedfy, Radwa Gamal
doaj   +1 more source

Congenital Hypothyroidism among Infants Undergoing Thyroid Function Test in a Tertiary Care Centre: A Descriptive Cross-sectional Study

Journal of Nepal Medical Association, 2022
Introduction: Congenital hypothyroidism is the most preventable and treatable cause of mental retardation in newborns and infants. Screening for congenital hypothyroidism in newborns and infants is not a routine practice in our part of the world.
Bijaya Mishra, Nisha Keshary Bhatta, Mohan Chandra Regmi, Binod Kumar Lal Das, Seraj Ahmed Khan, Basanta Gelal, Apeksha Niraula, Madhab Lamsal   +7 more
doaj   +1 more source

Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt [PDF]

Annals of Neonatology Journal, 2023
Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes.
Noura El-Bakry
doaj   +1 more source

Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake

, 2015
PURPOSE: Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency.
Olivieri, A, Medda, E, SALERNO, MARIACAROLINA, Radetti, G, Italian Study Group for Congenital Hypothyroidism   +4 more
core   +1 more source

Serum Neudesin Levels in Patients with Congenital Hypothyroidism [PDF]

J Clin Res Pediatr Endocrinol
Objective: Neudesin is a newly discovered protein mainly secreted from adipose tissue and the brain. It plays a role as a neurotrophic factor in the brain and a negative regulator of energy expenditure.
Bahar S, Özgen İT, Cesur Y, Yıldız C, Özer ÖF, Aytaç Kaplan EH, Kocabey Sütçü Z.   +6 more
europepmc   +2 more sources

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.   +83 more
core   +1 more source

Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data

BMC Pediatrics, 2010
Background Thyroid hormone treatment in children with congenital hypothyroidism can prevent intellectual disability. Guidelines recommend that children diagnosed with congenital hypothyroidism through newborn screening remain on treatment to at least 3 ...
Grosse Scott D, Ouyang Lijing, Kemper Alex R   +2 more
doaj   +1 more source

Term birth and levothyroxine dosage are significant factors associated with permanent congenital hypothyroidism: experience from a medical center in Taiwan

BMC Pediatrics
Background Before the introduction of newborn screening, congenital hypothyroidism was the leading cause of intellectual disability in infants and children.
Yu-En Kao, Wei-Hsin Ting, Yann-Jinn Lee, Chi-Yu Huang, Chao-Hsu Lin, Yi-Lei Wu, Lu-Ting Wang, Chin-Hui Tseng, Yi-Hsin Wu   +8 more
doaj   +1 more source

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

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source