Results 81 to 90 of about 5,557 (240)

Diversity of pathological conditions affecting pituitary stalk [PDF]

, 2021
Pituitary stalk lesions (PSL) are a very rare pathology. The majority of conditions affecting the infundibulum do not present with clinically apparent symptoms, what makes the diagnosis difficult.
Gilis-Januszewska, Aleksandra, Godlewska, Magdalena, Hubalewska-Dydejczyk, Alicja, Kluczyński, Łukasz, Starzyk, Jerzy, Wójcik, Małgorzata, Zygmunt-Górska, Agata   +6 more
core   +1 more source

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet, P. Verloo, A. Vanlander, S. Vande Velde, S. Van Biervliet, P. De Bruyne, L. Hoste, A. Dheedene, L. Pottie, A. Hoorens, M. Mendes, R. De Bruyne   +11 more
wiley   +1 more source

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Endocrinology, Diabetes & Metabolism Case Reports, 2017
Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells.
Durgesh Prasad Chaudhary, Tshristi Rijal, Kunal Kishor Jha, Harpreet Saluja   +3 more
doaj   +1 more source

Paediatric hypopituitarism: a case report and management challenges in a resource poor setting

The Pan African Medical Journal, 2020
Hypopituitarism, a deficiency of one or more of the hormones produced by the pituitary gland, is a rare disorder. It can be congenital or acquired. Case report on childhood hypopituitarism is rare in Nigeria. We present a 15-year-old boy, second of a set
Isaac Oludare Oluwayemi, Oladele Simeon Olatunya, Ezra Olatunde Ogundare, Adebukola Bidemi Ajite, Adefunke Olarinre Babatola, Adewuyi Temidayo Adeniyi, Akinwumi Kolawole Komolafe   +6 more
doaj   +1 more source

Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

BMC Medical Genomics, 2022
Background SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation.
Caiqi Du, Feiya Wang, Zhuoguang Li, Mini Zhang, Xiao Yu, Yan Liang, Xiaoping Luo   +6 more
doaj   +1 more source

Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility [PDF]

, 2019
Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is
arxiv   +1 more source

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]

, 2018
Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio, Bornstein, El-Maouche, Falhammar, Falhammar, Falhammar, Fleming, Gidlof, Gleeson, Hahner, Hahner, Huynh, Ishii, Kampmeyer, Khalid, Leblicq, Maguire, Merke, Neumann, Reisch, Rushworth, Rushworth, Rushworth, Rushworth, Speiser, Swerdlow   +25 more
core   +2 more sources

Human Pituitary Organoids: Transcriptional Landscape Deciphered by scRNA‐Seq and Stereo‐Seq, with Insights into SOX3's Role in Pituitary Development

Advanced Science, Volume 12, Issue 14, April 10, 2025.
An optimized protocol is developed to differentiate human iPSCs into pituitary organoids and the cellular composition, intercellular interactions, and spatial organization within pituitary organoids are characterized via scRNA‐seq and Stereo‐seq.
Shengjie Wang, Deyue Jiang, Yan Xiao, Qiaozhen Qin, Heyang Zhang, Lingtong Ye, Jide Jin, Xiaoxia Jiang, Qinghua Guo   +8 more
wiley   +1 more source

A Primer on Computational Simulation in Congenital Heart Disease for the Clinician [PDF]

Progress in Pediatric Cardiology 30, 1-2 (2010) 3-13, 2010
Interest in the application of engineering methods to problems in congenital heart disease has gained increased popularity over the past decade. The use of computational simulation to examine common clinical problems including single ventricle physiology and the associated surgical approaches, the effects of pacemaker implantation on vascular occlusion,
arxiv   +1 more source

CSNK2B Mutation: A Rare Cause of IGHD

Clinical Endocrinology, Volume 102, Issue 4, Page 421-426, April 2025.
ABSTRACT Objective Poirier‐Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability.
Karine Aouchiche, Pauline Romanet, Anne Barlier, Thierry Brue, Morgane Pertuit, Rachel Reynaud, Alexandru Saveanu   +6 more
wiley   +1 more source