Results 71 to 80 of about 1,912 (196)

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

The Alstrom syndrome: is it a rare or unknown disease? [PDF]

, 2002
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing impairment, non-insulin-dependent diabetes mellitus and kidney and heart failure.
Scandellari, C, Munno, V, Maffei, P, Sicolo, N, Marshall, J D   +4 more
core  

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study

Orphanet Journal of Rare Diseases, 2021
Background Care coordination is considered important for patients with rare conditions, yet research addressing the impact of care coordination is limited.
Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton, Amy Hunter   +9 more
doaj   +1 more source

Association Between Physical Activity and Indicators of Overweight/Obesity and Metabolically Unhealthy Obesity Risk in Children and Adolescents: A Systematic Review of Prospective Epidemiological Studies and Randomized Controlled Trials in Western Countries

Obesity Reviews, Volume 27, Issue 1, Page 1-28, January 2026.
ABSTRACT This systematic review examined the etiologic association between physical activity (PA) and indicators of childhood overweight/obesity (OV/OB) and metabolically unhealthy obesity (MUO) risk. Original peer‐reviewed English reports published between January 01, 2013, and June 30, 2024, were retrieved from MEDLINE and Scopus.
Michael Georgoulis, Ismini Grapsa, Giannis Arnaoutis, Vasiliki Bountziouka, Alexandra Karachaliou, Georgios Saltaouras, Eirini Bathrellou, Mary Yannakoulia, George Dimitrakopoulos, Meropi D. Kontogianni   +9 more
wiley   +1 more source

MORFAN syndrome: A rarity but a reality!

Indian Journal of Dermatology, 2019
Acanthosis nigricans (AN) describes clinically hyperpigmented skin, which most commonly affects the flexural areas such as axilla, groin and neck.
Gourab Roy, Sumit Sen, Shreya Poddar
doaj   +1 more source

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report

Clinical Case Reports, Volume 13, Issue 12, December 2025.
MRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Sushrut Ingawale, Ishaan Shinde, Sai Teja Rachakonda, Ashmita Pandey, Ayushi Shah   +4 more
wiley   +1 more source

Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: A report of four sibs. [PDF]

, 2005
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal
Kaplan, P, Hoffman, J D, Jacobson, Z, Marshall, J D, Young, T L   +4 more
core  

Charakterisierung von ALMS1 (Alstrom syndrome 1)-Transkripten in Hodgkin-Lymphom-Zellen [PDF]

, 2017
Das ALMS1 (Alstrom syndrome 1)-Gen zählt zu den größten bekannten krankheitsassoziierten Genen des menschlichen Genoms und ist an Zellzykluskontrolle, Ziliogenese, Recycling von Endosomen und intrazellulären Transportmechanismen beteiligt.
Braune, Katarina
core   +1 more source

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BMC Medical Genetics, 2020
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli   +12 more
doaj   +1 more source

Six Years of Genetic Diagnosis of Severe Early‐Onset Obesity in a French Cohort

Obesity Science &Practice, Volume 11, Issue 6, December 2025.
ABSTRACT Objective Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling.
M. Rama, E. Blond, A. Janin, M. Di‐Filippo, C. Cuerq, O. Marmontel, P. A. Rollat‐Farnier, E. Dieterlen, B. Segrestin, M. Nicolino, E. Disse, K. Perge, D. Collin‐Chavagnac   +12 more
wiley   +1 more source