Results 101 to 110 of about 2,862 (212)

Improving the diagnosis of hyperphagia in melanocortin‐4 receptor pathway diseases

Obesity, Volume 33, Issue 7, Page 1217-1231, July 2025.
Abstract Characteristics of hyperphagia include heightened and prolonged hunger, longer time to satiation, shorter duration of satiety, severe preoccupation with food (i.e., hyperphagic drive), abnormal food‐seeking behaviors, and distress or functional impairment when food is unavailable.
M. Jennifer Abuzzahab, Beatrice Dubern, Anthony P. Goldstone, Andrea M. Haqq, Steven B. Heymsfield, Jennifer L. Miller, Jesse Richards, Martin Wabitsch, Jack A. Yanovski   +8 more
wiley   +1 more source

Alstrom syndrome in two siblings.

Journal of the Formosan Medical Association = Taiwan yi zhi, 2001
Alstrom syndrome is a very rare autosomal recessive inherited disorder. Only 50 cases have been reported since the syndrome was first described in 1959. This syndrome is characterized by obesity, impaired glucose tolerance with insulin resistance, retinal degeneration, neurosensory deafness, acanthosis nigricans, hepatic dysfunction, and some endocrine
Y J, Hung, C, Jeng, D, Pei, P I, Chou, D A, Wu   +4 more
openaire   +1 more source

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons. [PDF]

, 2016
Insulin orchestrates physiological responses to ingested nutrients; however, although it elicits widely ramifying metabolic and trophic responses from diverse tissues, 'insulin resistance (IR)', a pandemic metabolic derangement commonly associated with ...
Semple, RK
core   +1 more source

Investigating potential tactile strategies of students with deafblindness: An exploratory study

Journal of Research in Special Educational Needs, Volume 25, Issue 3, Page 590-602, July 2025.
Abstract The purpose of this study was to investigate and describe tactile exploratory behaviours and strategies applied by students with deafblindness when they actively explore objects by touch in terms of their texture and weight. For the needs of the present study, a Delphi consultation methodology was applied by the authors and special education ...
Maria Papazafiri, Vassilios Argyropoulos
wiley   +1 more source

Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis

Nature Communications
Ciliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto, Amanda Gabrielly Fernández Pereira, Laura Ventura-San Pedro, Sonia Belén Paredes, Ana Elena Pérez-Cobas, María Perez-Lanzon, Sylvere Durand, Paula Moreno-Cruz, Laura Manrique, Rocío Benítez-Fernández, Héctor Leal Lassalle, Yulia A. Nevzorova, Francisco Javier Cubero, Élida Alechaga, Oscar J. Pozo, Patricia Boya, José Manuel Fuentes, Valentina Sica, Guido Kroemer, José Manuel Bravo-San Pedro   +19 more
doaj   +1 more source

Hypertension Precedes Metabolic Syndrome in the ALMS1 (Alstrom Syndrome 1) Knockout Rat

The FASEB Journal, 2018
We previously found that Alstrom syndrome 1 protein (ALMS1) is expressed in the kidney where it regulates thick ascending limb (TAL) NaCl reabsorption by controlling NKCC2 endocytosis. In humans, inactivating mutations in the ALMS1 gene causes obesity, insulin resistance and hypertension (metabolic syndrome). We found that deletion
Keyona N. King‐Medina, Pablo A. Ortiz
openaire   +1 more source

Young‐onset type 2 diabetes—Epidemiology, pathophysiology, and management

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1157-1172, July 2025.
The burden of young‐onset type 2 diabetes is increasing globally, disproportionately affecting non‐White ethnic groups and low‐ and middle‐income countries. Young‐onset type 2 is more heterogeneous regarding the genetic and environmental contributions to its underlying pathophysiology, which poses challenges for glycemic management.
Andrea O.Y. Luk, Hongjiang Wu, Yingnan Fan, Baoqi Fan, Chun Kwan O, Juliana C.N. Chan   +5 more
wiley   +1 more source

‘I Have my Beliefs, but Then I Have my Reality’: Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy

Prenatal Diagnosis, Volume 45, Issue 7, Page 857-866, June 2025.
ABSTRACT Objectives Black and South Asian women in the UK face disproportionately worse pregnancy and maternal outcomes. Yet, they are underrepresented in research. Understanding their attitudes towards prenatal tests (screening tests and diagnostic genetic tests) is critical for offering equitable prenatal care. Methods Focus groups examined attitudes
Michelle Peter, Rashida Baptiste, Rachael Buabeng, Lily Islam, Jane Fisher, Kerry Leeson‐Beevers, Melissa Hill, Lyn S. Chitty   +7 more
wiley   +1 more source

Weight status of children and adolescents with autism spectrum disorder: A cross‐sectional analysis of primary care electronic medical records and linked health administrative datasets in Ontario, Canada

Pediatric Obesity, Volume 20, Issue 6, June 2025.
Summary Background Individuals with autism spectrum disorder (ASD) may be at increased risk of both obesity and underweight. Objective To examine the association between ASD and weight status in children and adolescents, adjusting for individual‐ and neighbourhood‐level sociodemographic factors.
Laura M. Kinlin, Natasha R. Saunders, Sarah Carsley, Charles Keown‐Stoneman, Karen Tu, Lonnie Zwaigenbaum, Catherine S. Birken   +6 more
wiley   +1 more source

Effects of modified lifestyle intervention education on arterial stiffness, inflammatory and metabolic risk markers in overweight and obese subjects [PDF]

, 2013
Obesity is a global epidemic disease affecting almost all parts of the world. The prevalence of obesity has increased rapidly in the last ten years in Malaysia. Obesity increases the risk of medical problems and cardiovascular diseases.
Ariffin, Farah Diana
core