Results 41 to 50 of about 926,075 (161)

Congenital hypothyroidism in pediatric practice [PDF]

, 2016
We present observation of two patients with congenital hypothyroidism. Importance of neonatal screening for congenital hypothyroidism is demonstrated.The main principles of diagnostics, therapy and dispensary supervision, role of pediatricians in ...
A. V. Vitebskaya, T. V. Igamberdieva
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Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism

International Journal of Pediatrics & Adolescent Medicine, 2021
Childhood overgrowth syndromes are relatively rare. A generalized overgrowth syndrome should be suspected when tall stature and macrocephaly are present, after ruling out nutritional excess and endocrinopathies.
Arushi Verma, Parisa Salehi, Anne Hing, Alissa Jeanne Curda Roberts   +3 more
doaj   +1 more source

Bar chart showing the deference between Permanent and transient congenital hypothyroidism regarding sex.

, 2013
Bar chart showing the deference between Permanent and transient congenital hypothyroidism regarding sex.
Osama E. M. Bekhit (428421), Remon M. Yousef (428422)   +1 more
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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

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Mutations and phenotypic characteristics in transient and permanent congenital hypothyroidism: an analysis of literature data.docx

, 2019
Supplemental data of study: Mutations and phenotypic characteristics in transient and permanent congenital hypothyroidism: an analysis of literature ...
Bin Yu (14464), Fang Guo (105824), Wei Long (7302881), Huaiyan Wang (7302883), Ying Wang (11406)   +4 more
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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
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71 INCIDENCE OF THYROID ANTIBODIES IN NEWBORNS WITH PERMANENT CONGENITAL HYPOTHYROIDISM [PDF]

Pediatric Research, 1985
The influence of maternal autoimmune thyroid disease and placental transfer of antithyroid antibodies has been discussed as one cause of congenital hypothyroidism. In order to evaluate this hypothesis thyroid microsomal antibodies(anti-M), thyroglobulin antibodies (anti-T) and TSH-receptor antibodies(anti-TSH-R) were determined in serum samples of 36 ...
Annette Grüters, Ulrich Bogner, Peter Kotulla, Dagmar L'allemand, Horst Schleusener, Bruno Weber, Hans Helge   +6 more
openaire   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]

, 1996
Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Rizzo, M., Vassallo Agius, Paul, Parascandalo, Raymond, Felice, Alex   +3 more
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