Results 81 to 90 of about 45,940 (218)

Epac1 Alleviates Senescence in Auditory Hair Cells via the Ferroptosis

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objectives The aim of this study was to investigate the changes in Epac1 and ferroptosis‐related proteins in aged mice and the House Ear Institute‐Organ of Corti 1 (HEI‐OC1) cells, with the goal of elucidating their potential role in age‐related hearing loss. Methods The expression of Epac1 in the cochlea of C57BL/6J mice was examined by using
Wen‐Jun An, Chen‐Yu Xu, Meng‐Ya Shen, Xiao‐Tao Guo, Chun‐Chen Pan, Jing‐Wu Sun, Xiao‐Min Tang, Jia‐Qiang Sun   +7 more
wiley   +1 more source

Congenital CMV Infection: Determination of Transplacental Passage of Aciclovir by Ex Vivo Placental Perfusion

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To quantify the transplacental transfer of aciclovir at an amount equivalent to 2 g of valaciclovir corresponding to the fractionated dosing regimen given four times daily used to reduce congenital cytomegalovirus (CMV) transmission and to treat the CMV‐infected fetus. Design Experimental ex vivo study.
Helyett Ollivier, Valentine Faure Bardon, Leo Froelicher Bournaud, Isidore Gaubert, Tiffany Guilleminot, Marianne Leruez‐Ville, Jean‐Marc Treluyer, Yves Ville, Gabrielle Lui, Julien Stirnemann   +9 more
wiley   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, EarlyView.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +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

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

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

Determinant of chronic suppurative otitis media and its association with the sensorineural component of hearing loss

Journal of Indira Gandhi Institute of Medical Sciences
Background: Chronic suppurative otitis media (CSOM) is a leading disorder known for hearing loss. We aimed to investigate the associated determinant factors of CSOM with sensorineural hearing loss (SNHL).
Shruti Jha, Rakesh Kumar Singh
doaj   +1 more source

Intramuscular tendon length in agonist–antagonist myoneural interface components in transtibial amputation: An anatomic study

Journal of Anatomy, EarlyView.
Interestingly, this study shows that tendons spanned over 75% of the distal muscle belly in all muscles, crucial for the innovative tibiotalar agonist–antagonist myoneural interface (AMI) construction. AMI simulates natural muscle–tendon interaction in amputees, improving prosthetic control despite anatomical constraints.
Viktoria Witowski, Lisa Lorbeer, Laura Schmid, Benedict Wilhelmi, Victor A. Hoursch, Matthew J. Carty, Hugh M. Herr, Roland Blumer, Massimo Sartori, Utku Ş. Yavuz, Corey L. Sullivan, Stephan Sehmisch, Andreas Schmiedl, Jennifer Ernst   +13 more
wiley   +1 more source

How to Identify Patients at Risk of Silent Atrial Fibrillation after Cryptogenic Stroke: Potential Role of P Wave Dispersion [PDF]

Journal of Stroke, 2017
Maurizio Acampa, Pietro Enea Lazzerini, Giuseppe Martini   +2 more
doaj   +1 more source