Results 71 to 80 of about 435 (138)

Periods, Pains, Pills, and Performance—Fighting Blood, Bodies and Biology

Sociological Forum, Volume 41, Issue 3, Page 369-381, September 2026.
ABSTRACT This paper draws on various data from long‐term immersion in combat sports to explore the period experiences of cis women fighters. We blend theoretical ideas from the social scientific literature on menstruation and the sociology of medicalization, pain and injury.
Reem AlHashmi, Debra Forbes, Christopher R. Matthews   +2 more
wiley   +1 more source

Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report

Journal of Nepal Medical Association
Usher syndrome is a rare autosomal recessive disorder characterized by progressive sensorineural hearing loss and retinitis pigmentosa, typically present from birth and later symptoms, including loss of night vision and peripheral vision slowly ...
Bishal Yadav, Tunam Khadka, Toyendra Jung Shah, Mandish Prasad Phuyal, Rajesh Lamichane, Bikash Chaurasiya   +5 more
doaj   +1 more source

Chronic Psychosis in a Patient with Usher Syndrome

Annals of Indian Psychiatry
Usher syndrome refers to a group of inherited disorders characterized by visual and auditory impairment. The risk of psychosis in Usher syndrome is higher than that in the general population and is difficult to approach and treat in light of sensory ...
Abhay Keshava Bhat, Sheetal Reshram Meshram, Maithili S. Umate, Prakhar D. Jain   +3 more
doaj   +1 more source

Genetic testing for Usher syndrome

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1 ...
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo   +5 more
doaj   +1 more source

A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family

Orphanet Journal of Rare Diseases
Background Usher syndrome type 3 (USH3) is an autosomal recessive inherited disorder caused by pathogenic variants in the CLRN1 gene. Object To evaluate the genotype-phenotype correlation of Usher syndrome type 3 (USH3) in a deaf-blind Chinese family of ...
Suyang Wang, Chen Yang Xu, Yiming Zhu, Wenjuan Ding, Jieyu Hu, Baicheng Xu, Yufen Guo, Xiaowen Liu   +7 more
doaj   +1 more source

Usher's Syndrome

Internal Medicine, 2008
Skeik, Nedaa, Jabr, Fadi I
openaire   +3 more sources

The molecular genetics of Usher syndrome: Genetics of Usher syndrome

, 2003
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the hallmark of Usher syndrome and involves at least 12 loci among three different clinical subtypes. Genes identified for the more commonly inherited loci are USH2A (encoding usherin), MYO7A (encoding myosin VIIa), CDH23 (encoding ...
Ahmed, Zm, Riazuddin, S., Riazuddin, S., Wilcox, Er   +3 more
openaire   +1 more source

Usher’s syndrome

Brazilian Journal of Otorhinolaryngology, 2007
Norte, Maria Carolina Braga, Juares, Antônio José Cortez, Nardi, José Carlos, Dell’Aringa, Alfredo Rafael, Kobari, Kazue   +4 more
openaire   +2 more sources

Adaptive optics retinal imaging in patients with usher syndrome

Frontiers in Ophthalmology
PurposeTo determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the standard clinical ...
Melanie Kempf, Melanie Kempf, Susanne Kohl, Krunoslav Stingl, Krunoslav Stingl, Fadi Nasser, Katarina Stingl, Katarina Stingl, Friederike C. Kortuem   +8 more
doaj   +1 more source

Senear-Usher Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1947
openaire   +3 more sources