Results 31 to 40 of about 55,425 (230)

Assessment of Hearing Defect in Oral Submucous Fibrosis: A Cross-Sectional Study

Journal of Orofacial Sciences
Introduction: This study was designed to assess the hearing defect in oral submucous fibrosis and compare the hearing defect in different stages of oral submucous fibrosis (OSMF) and also the hearing defect in the control group.
Garikapati Anoop, Nunsavathu Purnachandra Rao Naik, Yalamanchili Samata, Saranu Sethu Manjusha, Chennupati Tejaswi   +4 more
doaj   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

Vitamin D Deficiency as a Risk Factor for Onset and Recurrence of Sudden Sensorineural Hearing Loss: A Prospective Cohort Study With Age-Specific Analysis. [PDF]

Food Sci Nutr
Pure‐tone audiometry (0–120 dB HL) identified patients with sudden sensorineural hearing loss (SSNHL). Serum 25‐hydroxyvitamin D levels revealed deficient (< 20 ng/mL), insufficient (20–30 ng/mL), or sufficient (≥ 30 ng/mL) status. Novel findings demonstrate low vitamin D correlates with higher SSNHL onset/recurrence, particularly elevating risk in ...
Hui Q, Xiang T, Qinglan X, Shuowei Y, Mengshi C, Qin X, Hongyin L, Juntao Y, Yunping F.   +8 more
europepmc   +2 more sources

The Correlation of Clinical Features and Endolymphatic Hydrops Visualized by 3D-Real IR MRI in Children With Sudden Sensorineural Hearing Loss [PDF]

, 2021
Wei Chen, Yue Geng, Siqi Luo, Naier Lin, Yan Sha   +4 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss. [PDF]

Mol Genet Genomic Med
In this Chinese family with hereditary deafness, we identified a novel DIAPH3 point variant (NM_001042517.2:c.1472A>G). This variant manifests as late‐onset progressive sensorineural hearing loss, with congruent pure‐tone audiometry (PTA) and auditory brainstem response (ABR) thresholds.
Zeng L, Zheng Q, Wu X, Chen G, Xie L, Qiu W, Ning F, Bai L, Zhang Q.   +8 more
europepmc   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Antioxidants and Vasodilators for the Treatment of Noise-Induced Hearing Loss: Are They Really Effective?

Frontiers in Cellular Neuroscience, 2020
We live in a world continuously immersed in noise, an environmental, recreational, and occupational factor present in almost every daily human activity. Exposure to high-level noise could affect the auditory function of individuals at any age, resulting ...
Juan Carlos Alvarado, Verónica Fuentes-Santamaría, José M. Juiz, José M. Juiz   +3 more
doaj   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source