Results 71 to 80 of about 26,081 (268)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Reply to the discussion by Pilfold “Polar bear mass change confirms hyperphagia follows ringed seal whelping”

Arctic Science
The spring is a critical period when polar bears (Ursus maritimus Phipps, 1774) are thought to have peak access to seals and acquire the majority of their annual energy requirements during a period of hyperphagia. Pagano et al. (Pagano A.M., Atkinson S.N.
Anthony M. Pagano, Stephen N. Atkinson, Louise C. Archer   +2 more
doaj   +1 more source

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity

Frontiers in Endocrinology, 2022
Monogenic obesity is a severe, genetically determined disorder that affects up to 1/1000 newborns. Recent reports on potential new therapeutics and innovative clinical approaches have highlighted the need for early identification of individuals with rare
Robert Šket, Primož Kotnik, Primož Kotnik, Barbara Jenko Bizjan, Valentina Kocen, Matej Mlinarič, Tine Tesovnik, Maruša Debeljak, Maruša Debeljak, Tadej Battelino, Tadej Battelino, Jernej Kovač, Jernej Kovač   +12 more
doaj   +1 more source

Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome.

JCI Insight, 2018
BACKGROUND Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder of life-threatening hyperphagia, obesity, intellectual deficits, compulsivity, and other behavioral problems. The efficacy and safety of i.n.
E. Dykens, Jennifer L Miller, M. Angulo, E. Roof, M. Reidy, H. Hatoum, R. Willey, Guy Bolton, P. Korner   +8 more
semanticscholar   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Glucocorticoid-Induced Fatty Liver Disease

Diabetes, Metabolic Syndrome and Obesity, 2020
Leili Rahimi,1 Aman Rajpal,1,2 Faramarz Ismail-Beigi1,2 1Department of Medicine, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; 2Cleveland VA Medical Center, Cleveland, OH, USACorrespondence: Faramarz ...
Rahimi L, Rajpal A, Ismail-Beigi F
doaj  

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome.

PLoS ONE, 2019
INTRODUCTION:Prader-Willi syndrome (PWS) is a complex genetic condition characterized by hyperphagia, hypotonia, low muscle mass, excess body fat, developmental delays, intellectual disability, behavioral problems, and growth hormone deficiency.
Virginia Kimonis, Abhilasha Surampalli, Marie Wencel, June-Anne Gold, Neil M Cowen   +4 more
doaj   +1 more source

Strategies for inducing diabetes in laboratory animals: Advances from chemical, surgical, immunologic, dietary, and genetic approaches

Animal Models and Experimental Medicine, EarlyView.
This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji, Maedeh Faraji, Nasrin Kazemipour   +2 more
wiley   +1 more source

Growth hormone/STAT5 signaling in proopiomelanocortin neurons regulates glucoprivic hyperphagia

Molecular and Cellular Endocrinology, 2019
Several hypothalamic neuronal populations are directly responsive to growth hormone (GH) and central GH action regulates glucose and energy homeostasis.
P. Quaresma, Pryscila D. S. Teixeira, I. Furigo, F. Wasinski, Gisele C. L. Couto, Renata Frazão, E. List, J. Kopchick, J. Donato   +8 more
semanticscholar   +1 more source

Emerging Insights into the Role of BDNF on Health and Disease in Periphery

Biomolecules
Brain-derived neurotrophic factor (BDNF) is a growth factor that promotes the survival and growth of developing neurons. It also enhances circuit formation to synaptic transmission for mature neurons in the brain.
Mayuko Ichimura-Shimizu, Khuleshwari Kurrey, Misaki Miyata, Takuya Dezawa, Koichi Tsuneyama, Masami Kojima   +5 more
doaj   +1 more source