Results 61 to 70 of about 1,183,898 (170)

Clinical Case A clinical case of Prader–Willi syndrome

Relevance. Prader–Willi syndrome (SPW) is a rare genetic disease associated with a predominant legion of the nervous system with subsequent involvement of other systems.
Tatiana A. Minenkova, Irina G. Khmelevskaya, Aleksandra V. Serezhkina, Natalia S. Razinkova, Darya R. Yakovleva, Rostislav E. Gromov   +5 more
core   +1 more source

The Lived Experience of Children and Adults with Overweight or Obesity Engaging in Weight Management Treatments: An Umbrella Scoping Review with Narrative Synthesis

Obesity Reviews, EarlyView.
ABSTRACT Introduction Understanding the lived experience of people with overweight or obesity is essential to ensure that interventions are free from weight stigma, avoid adverse consequences including eating disorder pathology, increase engagement, and promote culturally sensitive approaches to care. We aimed to synthesize published review evidence of
Cecelia MacFarling Meure, Jo Salmon, Anna Peeters, Steven Allender, Louise A. Baur, Kristy A. Bolton, Cadeyrn J. Gaskin, Blake J. Lawrence, Ralph Maddison, Elizabeth Rieger, Elizabeth Sturgiss, Lena D. Stephens, Linda Sweet, Andrew Wilson, Judi Porter   +14 more
wiley   +1 more source

Malignant otitis externa in a 21-year-old male patient with Prader–Willi syndrome

SAGE Open Medical Case Reports, 2019
Malignant otitis externa is an invasive infection of the external auditory canal and temporal bone with potentially life-threatening complications. Elderly patients with type 2 diabetes mellitus are the population most commonly affected by malignant ...
Marcos Frata Rihl, Felipe Marchiori Bau, Igor de Oliveira, Manoela Astolfi Vivan, Roseane Cardoso Marchiori   +4 more
doaj   +1 more source

French database of children and adolescents with Prader-Willi syndrome

BMC Medical Genetics, 2008
Background Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its ...
Arnaud Catherine, Glattard Melanie, Diene Gwenaelle, Cazals Laurent, Molinas Catherine, Tauber Maithe   +5 more
doaj   +1 more source

Circulating microRNA signatures reveal core and reversible dysregulation in obesity via machine learning

The Journal of Physiology, EarlyView.
Abstract figure legend Machine learning analysis of circulating microRNA (miRNA) profiles identified a minimal set of biomarkers that distinguish individuals with obesity from lean individuals both before and after weight‐loss intervention. Comparative analyses revealed heterogeneous molecular responses to weight reduction, with some miRNAs showing ...
Yuan Yue, Rajesh Katare, Jeremiah Deng, Daniel Alencar Da Costa, Patrick Manning   +4 more
wiley   +1 more source

Relationships between Sensory Processing, Aberrant Behaviors and Food-related Behaviors in Individuals with Prader-Willi Syndrome [PDF]

, 2019
Objective：The level of sensory processing dysfunction was examined and compared with the severity of food-related behaviors and aberrant behaviors in 102 individuals（60 males and 42 females）with Prader-Willi syndrome（PWS）, including 76 patients with ...
Ishii, Atsushi, Ihara, Hiroshi, Gito, Masao, Oto, Yuji, Takahashi, Asami, Ogata, Hiroyuki, Saima, Sohei, Nagai, Toshiro, Murakami, Nobuyuki   +8 more
core  

Dravet Syndrome: A Primer for Behavior Analysts

Behavioral Interventions, Volume 41, Issue 4, November 2026.
ABSTRACT Dravet syndrome (DS) is a rare and severe developmental and epileptic encephalopathy that is characterized by prolonged seizures beginning in the first year of life, followed by debilitating and complex features, including sleep disturbances, feeding problems, social‐emotional difficulties, speech deficits, and cognitive and motor impairments.
Isabel B. Hayes, Kasey E. Bedard, A. Delyla Ulm, Veronica Robbins‐Hood   +3 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Isabella Pfundt, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +123 more
wiley   +1 more source

Prader-Willi Syndrome

My Signature Honors Project revolved around my younger sister and her rare genetic condition, Prader-Willi Syndrome.
Daley SF, Fermin Gutierrez MA, Mendez MD.   +2 more
europepmc   +2 more sources

Obesity management in Prader–Willi syndrome: current perspectives

, 2018
Antonino Crinò,1 Danilo Fintini,2 Sarah Bocchini,1 Graziano Grugni3 1Autoimmune Endocrine Diseases Unit, 2Endocrinology Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome; 3Division of Auxology, Italian ...
Grugni G, Fintini D, Bocchini S, Crinò A   +3 more
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