Results 61 to 70 of about 5,557 (240)

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

Cells, 2022
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary
Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou, Christina Kanaka-Gantenbein   +7 more
doaj   +1 more source

"CONGENTIAL PANHYPOPITUITARISM ASSOCIATED WITH IMPAIRED LIVER FUNCTION TESTS AND CONGENITAL HEART DISEASE" [PDF]

Acta Medica Iranica, 2006
The term congenital hypopituitarism defines deficiency of all of the pituitary hormones. Hypoglycemia and microphallus (in males) are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. We report a case of congenital
Z. Khalili-Matinzadeh
doaj   +1 more source

Post-Partum Pituitary Insufficiency and Livedo Reticularis Presenting a Diagnostic Challenge in a Resource Limited Setting in Tanzania: A Case Report, Clinical Discussion and Brief Review of Existing Literature. [PDF]

, 2012
Pituitary disorders following pregnancy are an important yet under reported clinical entity in the developing world. Conversely, post partum panhypopituitarism has a more devastating impact on women in such settings due to high fertility rates, poor ...
A Cénac, A Gutenberg, A Lecube, AH Zargar, C Ajith, D Castle, EH Sidibe, EM Tan, F Bakiri, Faheem G Sheriff, GK Leung, H Raff, HC Lee, J Honegger, JD Ji, JR Ouma, Kajiru G Kilonzo, ME Molitch, N Tubridy, P Caturegli, R Golden, R Goswami, RA Kristof, S Diederich, William P Howlett, Y Ozawa, Z Karaca, ZA Erkut   +27 more
core   +3 more sources

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. [PDF]

Clin Endocrinol (Oxf), 2016
Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR.   +10 more
europepmc   +3 more sources

Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study. [PDF]

Ann Pediatr Endocrinol Metab
Purpose To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Lee Y, Lee YA, Ko JM, Shin CH, Lee YJ.
europepmc   +2 more sources

Recent advances in central congenital hypothyroidism. [PDF]

, 2015
Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities.
Alatzoglou, Kyriaki S, Chatterjee, V Krishna, Dattani, Mehul T, Schoenmakers, Nadia   +3 more
core   +2 more sources

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. [PDF]

, 2015
The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in hypogonadotrophic hypogonadism (HH), however, due to the clinical and genetic overlap of HH and ...
Abreu, A.P., Arnhold, I.J., Brito, V.N., Carvalho, L.R., Correa, F.A., Costalonga, E.F., Franca, M.M., Jorge, A.A., Latronico, A.C., Mendonca, B.B., Montenegro, L.R., Nishi, M.Y., Otto, A.P., Pitteloud, N., Sidis, Y., Trarbach, E.B., Tusset, C.   +16 more
core   +1 more source

Dilated Convolutional Neural Networks for Cardiovascular MR Segmentation in Congenital Heart Disease [PDF]

RAMBO 2016, HVSMR 2016. LNCS 10129. pp. 95-102, 2017
We propose an automatic method using dilated convolutional neural networks (CNNs) for segmentation of the myocardium and blood pool in cardiovascular MR (CMR) of patients with congenital heart disease (CHD). Ten training and ten test CMR scans cropped to an ROI around the heart were provided in the MICCAI 2016 HVSMR challenge.
arxiv   +1 more source

Severe neonatal cholestasis in <i>HNF1β</i> deficiency: a case report and literature review. [PDF]

Front Pediatr
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.
Gagliano C, Burattini O, Paradisi L, Recchione S, Santoro L, Caponi L, Ciaschini A, Lionetti ME, Gatti S.   +8 more
europepmc   +2 more sources

Thyroxine-binding globulin: investigation of microheterogeneity [PDF]

, 1981
Preparations of T4-binding globulin (TBG) from human serum was performed using only two affinity chromatography steps. Purity of the protein was demonstrated by a single band in overloaded disc and sodium dodecyl sulfate electrophoresis, equimolar ...
Gärtner, Roland, Henze, R., Horn, K., Pickardt, C. R., Scriba, Peter Christian   +4 more
core   +1 more source