Results 91 to 100 of about 28,682 (252)

CONGENITAL HYPOPITUITARISM (CH) IN FEMALE INFANTS: PRESENTATION WITH HYPOGLYCEMIA AND HYPOTHYROIDISM [PDF]

, 1977
A Kauschansky, Myron Genel, Howard A. Pearson   +2 more
openalex   +1 more source

A Case Report and Literature Review on Osteo‐Oto‐Hepato‐Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency

Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.
Osteo‐oto‐hepato‐enteric syndrome (O2HE) is a rare autosomal recessive inherited disease recently discovered due to mutations or deletions in the UNC‐45 myosin partner A (UNC45A) gene. Its typical manifestations are different combinations of bone fragility, hearing loss, cholestasis, and congenital diarrhea.
Zhengda Sun, Qijun Song, Ziyue Zhang, Shaoling Liu, Ruihua Yu, Yao Chen, Haiyan Liu, Lijun Wang   +7 more
wiley   +1 more source

Systematic screening for congenital hypothyroidism using thyrotrophin (TSH)determination in dried blood samples on filter paper:report of an experience of nine months [PDF]

, 1978
M David, C. Dorche, J Cutte, Florence Le Jeune   +3 more
openalex   +1 more source

The use of octreotide in pediatric patients: Practical applications for gastrointestinal disorders and beyond: A narrative review

Nutrition in Clinical Practice, Volume 40, Issue 5, Page 1040-1052, October 2025.
Abstract Somatostatin is a naturally occurring polypeptide hormone that exerts its effect on the gastrointestinal tract by reducing exocrine and endocrine secretion, resulting in decreased motility, gastric emptying, splanchnic blood flow, fat absorption, lymphatic flow, and gallbladder contraction.
Bailey Dunn, Megan Foxe, Kathy Hunter Sprott, Jessica E. Hook, Candi Jump   +4 more
wiley   +1 more source

A case of severe combined pathology in a late premature infant with hypoxic-ischemic damage to the central nervous system

Медицинский вестник Юга России
A clinical observation of severe combined pathology in a newborn child with congenital hypothyroidism against the background of hypoxic-ischemic damage to the central nervous system is presented.
L. V. Kravchenko, S. B. Berezhanskaya, O. Z. Puzikova, A. A. Afonin, M. S. Kasyan, K. G. Matyukh, V. A. Popova, M. A. Levkovich, I. I. Krukier, I. V. Panova, A. V. Moskovkina, D. I. Sozaeva   +11 more
doaj   +1 more source

Thyroid-Stimulating Hormone, Prolactin, and Growth Hormone Response to Thyrotropin-Releasing Hormone in Treated Children with Congenital Hypothyroidism [PDF]

, 1985
Joseph Sack, Yuval Shafrir, Dalia Urbach, O. Amado   +3 more
openalex   +1 more source

Secular Trends in the Use of Valproate‐Containing Medicines in Women of Childbearing Age in Europe: A Multinational DARWIN EU Network Study

Pharmacoepidemiology and Drug Safety, Volume 34, Issue 10, October 2025.
ABSTRACT Background Valproate‐containing medicines (VPA) are first‐line treatments for epilepsy; however, they pose teratogenic risks, restricting their use in women of childbearing age. We aimed to estimate the secular trends in the use of VPA and alternative treatments in young women, and to characterise dose/strength, treatment duration, and ...
Lucía Bellas, Martí Català, Edward Burn, Yuchen Guo, Mike Du, Katia Verhamme, Egil Fridgeirsson, Talita Duarte‐Salles, Tommi Kauko, Eeva Kronqvist, James T. Brash, Sarah Seager, Daniel Prieto‐Alhambra, Annika M. Jödicke, Albert Prats‐Uribe   +14 more
wiley   +1 more source

Mental development in congenital hypothyroidism after neonatal screening. [PDF]

, 1987
R Illig, R. H. Largo, Q Qin, Toni Torresani, P Rochiccioli, Agne Larsson   +5 more
openalex   +1 more source

An Unusual Initial Manifestation of Pulmonary Embolism: Aseptic Cavitary Infarction With Pulmonary Hypertension—Case Report and Literature Review

Respirology Case Reports, Volume 13, Issue 10, October 2025.
We report a rare case of CTEPH presenting with an aseptic cavitary pulmonary infarction, an unusual manifestation typically mimicking infection or malignancy. This case underscores the need for genetic screening in unexplained CTEPH, as thrombophilia workup in our case revealed a heterozygous Factor V Leiden mutation (an uncommon congenital risk factor
Vinay Venugopal, Saurabh Karmakar, Rajesh Kumar Yadav, Abdul Raouf Wani, Debapriya Maji, Gaurav Kumar Singh   +5 more
wiley   +1 more source

EFFECTIVENESS OF 2 SCREENING PROGRAMS FOR THE DIAGNOSIS OF CONGENITAL HYPOTHYROIDISM(CH) [PDF]

, 1989
S Ioransky, L G Papendiek, Maite Arriazu, Laura Prieto, Marco A. Rivarola, C Bergadá   +5 more
openalex   +1 more source