Results 61 to 70 of about 55,611 (300)

Hearing loss: an unusual presentation of neurobrucellosis: a case report

Journal of Medical Case Reports, 2023
Introduction Brucellosis is a zoonotic disease, caused by a Gram-negative coccobacillus of Brucella genus, transmitted to humans by animals, especially cattle.
Prem Kumar Sah, Hari Krishna Lamichhane, Ezza Fatima Tariq, K. C. Saroj, Prabhat Adhikari   +4 more
doaj   +1 more source

Pediatric Hearing Aid Management: Experiences and Perspectives of Spanish-Speaking Parents

, 2023
Purpose: The purpose of the study was twofold: (a) to explore hearing aid management experiences of Spanish-speaking parents who have young children using hearing aids and (b) to explore parents\u27 access to the Internet and perceptions about remote ...
Muñoz, Karen, Muñoz, Carlos, Diego Guillen, Twohig, Michael P., Guillen, Diego, Carlos Muñoz, Karen Muñoz, Michael P. Twohig   +7 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Auditory and language outcomes in children with unilateral hearing loss

, 2018
Objectives: Children with unilateral hearing loss (UHL) are being diagnosed at younger ages because of newborn hearing screening. Historically, they have been considered at risk for difficulties in listening and language development.
Flora Nassrallah, Durieux-Smith, A, Coyle, D, Isabelle Gaboury, Gaboury, I, Andrée Durieux-Smith, Fitzpatrick, EM, Elizabeth M. Fitzpatrick, Doug Coyle, Nassrallah, F, Whittingham, JA, JoAnne Whittingham   +11 more
core   +1 more source

Bone-Anchored Hearing Aids Fitted According to NAL and DSL Procedures in Adults with Mixed Hearing Loss

, 2022
BACKGROUND: Bone-anchored hearing aids represent a valid alternative for patients with conductive/mixed hearing loss who cannot use hearing aids. To date, these devices have given good audiological results, thanks to various fitting prescription programs
Giacomo Fiacchini, Bruschini, Luca, Maurizio Guida, Lazzerini, Francesco, Canelli, Rachele, Giuntini, Giada, Berrettini, Stefano, Francesco Lazzerini, Guida, Maurizio, Pardini, Paola, Rachele Canelli, Fiacchini, Giacomo, Forlì, Francesca, Giada Giuntini, Paola Pardini, Stefano Berrettini, Francesca Forli, Luca Bruschini   +17 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

NOISE INDUCED HEARING LOSS IN BASRAH STEEL FACTORY WORKERS [PDF]

The Medical Journal of Basrah University, 2011
Background: Noise Induced Hearing Loss (NIHL) is irreversible sensorineural deafness in one or both ears which develops gradually due to chronic exposure to injurious noise in employement.
Layla O. Khalid, Ghania S. Thaher, Hiathem J. Kadhum   +2 more
doaj   +1 more source

Language and health-related quality of life outcomes of children early-detected with unilateral and mild bilateral hearing loss

Frontiers in Pediatrics, 2023
IntroductionWe aimed to describe the language and health-related quality of life (HRQoL) outcomes of children early-identified with unilateral or mild bilateral permanent hearing loss.
Peter Carew, Peter Carew, Daisy A. Shepherd, Daisy A. Shepherd, Libby Smith, Qi Rui Soh, Valerie Sung, Valerie Sung, Valerie Sung   +8 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source