Results 131 to 140 of about 166,190 (339)

Idiopathic Sudden Sensorineural Hearing Loss: Vascular or Viral?

, 2013
Fred H. Linthicum, Joni K. Doherty, Karen I. Berliner   +2 more
openalex   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Clinical Genetics, EarlyView.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann   +4 more
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

Experience of sudden sensorineural hearing loss following a mild COVID-19 infection [PDF]

, 2023
Kim Gibson, John C C Ling, Micah D.J. Peters   +2 more
openalex   +1 more source

A Cross‐Sectional Study Exploring Patient Experiences, Unmet Needs and Desired Support in Those With Olfactory Dysfunction

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Smell and taste disorders (SATDs) are frequently overlooked despite growing prevalence. They profoundly impact quality of life. Effective therapies for SATDs remain scarce. This survey aimed to assess patient views surrounding the support available at the time of onset of SATDs, and what further support is needed.
William Ansley, Gabija Klyvyte, Mehmet Ergisi, Natalia Glibbery, Lois Camp, Prajakta Choudari, Mohammed Jawad, Tharsika Myuran, Nikki Garner, Jane Vennik, Lorenzo Stafford, Felix Naughton, Duncan Boak, Carl Philpott   +13 more
wiley   +1 more source

Semaglutide and tirzepatide effects on cardiovascular outcomes in people with overweight or obesity in the real world (STEER)

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims To assess the real‐world effectiveness of semaglutide versus tirzepatide in reducing major adverse cardiovascular events (MACE) among patients with overweight/obesity and established atherosclerotic cardiovascular disease (ASCVD) without diabetes in an insured US population.
Lauren Wilson, Zhenxiang Zhao, Victoria Divino, Matthew Bassan, Bríain Ó. Hartaigh, Signe Stensen, Kerem Ozer   +6 more
wiley   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source

Intratympanic Steroid Treatment for Idiopathic Sudden Sensorineural Hearing Loss after Failure of Intravenous Therapy [PDF]

, 2012
Emanuele Ferri, Antonio Frisina, Anna Chiara Fasson, Enrico Armato, Giacomo Spinato, Maurizio Amadori   +5 more
openalex   +1 more source

Clinical Diagnostics After Failed Hearing Screening in People With Intellectual Disabilities Do Not Often Take Place

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Individuals with intellectual disabilities are at higher risk of undiagnosed or inadequately treated hearing loss. This situation requires easily accessible hearing screening, diagnostics and intervention programmes in the living environment, i.e., in nurseries, schools, workplaces and homes.
Anna Wiegand, Philipp Mathmann, Susanne Wasmuth, Lukas Prein, Ross Parfitt, Martin Scharpenberg, Vincent Jankovic, Katharina Schwarze, Anja Neumann, Karolin Schäfer, Christian Speckemeier, Sven Baessler, Sarah Schlierenkamp, Sandra Diekmann, Nicole Stuhrmann, Ruth Lang‐Roth, Muhittin Demir, Werner Brannath, Awa Naghipour, Susanna Marie Zielonkowski, Anna Sophia Schwalen, Corinna Gietmann, Katrin Neumann   +22 more
wiley   +1 more source