Results 171 to 180 of about 149,128 (273)

The Current Situation and Development of Endoscopic Ear Surgery in China

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Endoscopic ear surgery has been widely performed in China since 2015 due to the development and rapid popularization of endoscopic technology. Due to the relative shortness of the auditory meatus, only a fixed endoscope is required in many cases, rather than a motion similar to a nasal endoscope, and uncontrollable bleeding is virtually non ...
Meng‐Wen Shi, Ge Yin, Yu Sun
wiley   +1 more source

Association of serum lycopene with low-frequency hearing loss in adults in their 70s based on NHANES database

Scientific Reports
Age-related hearing loss is the third most common health condition affecting elderly individuals. The relationship between lycopene in blood and sensorineural hearing loss in elderly adults has rarely been reported.
Yuan Wang, Huifen Yang, Caiqin Huang
doaj   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, EarlyView.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

Advancements in Treatment for Sensorineural Hearing Loss: Implications for Rehabilitation Professionals [PDF]

, 2015
Rehabilitation professionals often work with individuals with sensorineural hearing loss. Sometimes the hearing loss is due to ototoxic medications that are prescribed as treatments for other conditions.
Cruz, Bianca, Perez, Robert B, Saladin, Shawn P., Tasnif, Yasar   +3 more
core   +2 more sources

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

Clinical Genetics, EarlyView.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix, Patricia Dubot, Alexey V. Pshezhetsky, Philippe M. Campeau   +3 more
wiley   +1 more source

Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock‐In Model for Human DFNX1 Deafness

Clinical Genetics, EarlyView.
Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan, M'hamed Grati, Rahul Mittal, Yi‐Zhou Quan, Wan Du, Zheng‐Yi Chen, Xue Zhong Liu   +6 more
wiley   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source