Results 91 to 100 of about 2,857 (146)

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

Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
doaj   +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

Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders [PDF]

, 2014
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male
Arcos-Burgos, M., Boguszewski, C., Boguszewski, M., Chuah, A., Huttley, G., Johar, A., Licinio, J., Mastronardi, C., Patel, H., Paz-Filho, G., Wong, M.   +10 more
core   +2 more sources

Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.: Survey assessing data sharing in leukodystrophies [PDF]

, 2015
International audienceThe purpose of this study was to explore patient and family views on the sharing of their medical data in the context of compiling a European leukodystrophies database.
A Farmer, A Kohlschütter, AM Almeida, Anne-Sophie Lapointe, B Godard, C Grady, CL Bladen, D Mascalzoni, D Mascalzoni, D Wendler, Diane D'Audiffret, G Gaskell, G Moutel, Grégoire Moutel, H Thornton, J Kaye, J Peppercorn, J Strobl, JP Vandenbroucke, Julie Champagnat, KS Steinsbekk, Marie-Louise Vendeville, MG Hansson, MG Hansson, MG Hansson, N Duchange, Nathalie Duchange, O Boespflug-Tanguy, Odile Boespflug-Tanguy, P McCormack, RC Griggs, RE Gliklich, S Aymé, SA Luchenski, Samia Guerroui, SB Trinidad, Sylviane Darquy, T Caulfield, WJ Curran, Z Master   +39 more
core   +4 more sources

Alström Syndrome: Genetics and Clinical Overview [PDF]

, 2011
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Collin, Gayle B, Maffei, Pietro, Marshall, Jan D, Naggert, Jürgen K   +3 more
core   +2 more sources

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Case Reports in Genetics, 2011
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Sheetal Sharda, Inusha Panigrahi, Ram Kumar Marwaha   +2 more
doaj   +1 more source

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Journal of Medical Case Reports, 2011
Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D, Mihai Cristina M, Stoicescu Ramona M   +2 more
doaj   +1 more source