Results 61 to 70 of about 3,538 (167)

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Prevention of neuromusculoskeletal frailty in slow-aging ames dwarf mice: longitudinal investigation of interaction of longevity genes and caloric restriction. [PDF]

PLoS ONE, 2013
Ames dwarf (Prop1 (df/df) ) mice are remarkably long-lived and exhibit many characteristics of delayed aging and extended healthspan. Caloric restriction (CR) has similar effects on healthspan and lifespan, and causes an extension of longevity in Ames ...
Oge Arum, Zachary Andrew Rasche, Dustin John Rickman, Andrzej Bartke   +3 more
doaj   +1 more source

Non‐Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Non‐syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools.
Pui Ling Thong, Nurfirdaus Musa, Nurul Husna Mohd Dani, Zurina Zainuddin   +3 more
wiley   +1 more source

Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review

Frontiers in Pediatrics
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.
Chiara Gagliano, Olga Burattini, Luigi Paradisi, Sarah Recchione, Lucia Santoro, Laura Caponi, Annamaria Ciaschini, Maria Elena Lionetti, Simona Gatti   +8 more
doaj   +1 more source

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared
Yuan Rui Leon Tan, Xiaoao Dong, Ngee Lek, Suresh Chandran, Odattil Geetha   +4 more
wiley   +1 more source

Less known aspects of central hypothyroidism: Part 1 – Acquired etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) is a rare cause of hypothyroidism. CH is frequently overlooked, as its clinical picture is subtle and includes non-specific symptoms; furthermore, if measurement of TSH alone is used to screen for thyroid function, TSH ...
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Post‑Marketing Surveillance of the Safety and Effectiveness of Emicizumab in Japanese Patients With Congenital Haemophilia A With Inhibitors

Haemophilia, Volume 32, Issue 1, Page 135-142, January/February 2026.
ABSTRACT Introduction The bispecific monoclonal antibody emicizumab was approved for prophylactic treatment of congenital haemophilia A (HA) in Japan in 2018. Aim To monitor long‐term safety and effectiveness of emicizumab, including appropriate concomitant use of bypassing agents (BPAs), in Japanese patients with congenital HA with inhibitors who ...
Midori Shima, Katsuyuki Fukutake, Masanori Matsumoto, Yoshihiko Sugimura, Chiaki Sugita, Lyu Ji, Mika Kawano, Tadashi Matsushita   +7 more
wiley   +1 more source

Epidemiology of acquired hypothalamic obesity following traumatic brain injury and nonspecific hypothalamic microinjury: A nationwide German claims data analysis

Journal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
Abstract Acquired hypothalamic obesity (aHO) is characterized by rapid and persistent weight gain resulting from structural or functional damage to the hypothalamus, typically accompanied by neuroendocrine dysfunction. While aHO is well described in the context of hypothalamic or suprasellar tumors, particularly craniopharyngioma, little is known about
Julian Witte, Nicolas Touchot, Manuel Batram, Jana Diekmannshemke, Mathias Flume, Hermann L. Müller   +5 more
wiley   +1 more source

Development of the neurohypophysis: A major neuroendocrine interface

Journal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
Abstract The neurohypophysis is a major central neuroendocrine interface regulating reproductive functions and water homeostasis. Distinct neurovascular cell types interact via evolutionarily conserved signaling molecules in the developing neurohypophysis, providing a model system for studying principles in neuroendocrine interface morphogenesis.
Athul R. Ramesh, Naveen Nedunchezhian, Md Hasan Ali, Sebastian Pęcherz, Natalia Kowalewska, Savani Anbalagan   +5 more
wiley   +1 more source

Imaging of pediatric pituitary endocrinopathies

Indian Journal of Endocrinology and Metabolism, 2012
Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty,
Vikas Chaudhary, Shahina Bano
doaj   +1 more source