Results 151 to 160 of about 72,015 (263)

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

Efficacy in noise of the Starkey Surflink Mobile 2 technology in directional versus omnidirectional microphone mode with experienced adult hearing aid users [PDF]

, 2016
The Starkey SurfLink Mobile 2 is a remote microphone accessory. Starkey claims that by placing the SurfLink’s internal microphone in the directional microphone setting, the participant will hear better in noise over the omnidirectional setting.
Beal, Taylor Rae
core   +1 more source

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

Clinical Genetics, EarlyView.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato, Massimo Galli, Giacomo D'Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli, Maria Rita Bianco, Daniela Messineo, Eugenia Allegra, Paola Grammatico, Mara Riminucci, Alessandro Corsi   +15 more
wiley   +1 more source

Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells

Cell Proliferation, EarlyView.
Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai, Kun Huang, Wenrui Li, Tianming Wang, Shen Yue, Zhibin Chen, Guangqian Xing, Qinjun Wei, Jun Yao, Xin Cao   +9 more
wiley   +1 more source

Single‐Nucleus Transcriptomics Uncovers Xaf1‐Driven PANoptosis as a Therapeutic Target in Aminoglycoside‐Induced Hearing Loss

Cell Proliferation, EarlyView.
Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang, Hairong Xiao, Jiheng Wu, Yanqin Lin, Yiheng Ao, Zixuan Ye, Xin Tan, Fanliang Kong, Xin Chen, Renjie Chai, Shasha Zhang   +10 more
wiley   +1 more source

Peripheral blood mononuclear cell secretome from patients with autoimmune encephalitis promotes seizures in vitro

Epilepsia, EarlyView.
Abstract Objective Autoimmune encephalitis (AE) is characterized by inflammatory processes in the central nervous system and frequently presents with seizures. Even though an ictogenic potential has been shown for some antibodies against neuronal surface antigens (NSAbs), AE pathophysiology is complex, and NSAbs‐independent mechanisms are likely to ...
Sara Prevosti, Alessio Passalacqua, Maria Cristina Regondi, Giada D'Ambrosio, Alessandra Morano, Michele Romoli, Giulia Maira, Flavio Villani, Pietro Mattioli, Diego Franciotta, Andrea Stabile, Marco de Curtis, Matteo Gastaldi, Francesco Deleo, Laura Librizzi   +14 more
wiley   +1 more source

Hearing Threshold Estimation With Distortion Product Otoacoustic Emission Growth Functions in People With Intellectual Disabilities in an Outreach Setting

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background People with intellectual disabilities often have undetected hearing loss. Methods In this prospective observational study featuring 110 adults with intellectual disabilities, hearing evaluations based on objective hearing threshold estimation using distortion‐product otoacoustic emission growth functions (DPOAEgfs) were performed in
Eleftherios Savvas, Emmanouela Dimitrakopoulou, Harald A. Euler, Frans Coninx, Felix Bluemel, Anne Krieger, Karolin Schaefer, Philipp Mathmann, Corinna Gietmann, Katrin Neumann   +9 more
wiley   +1 more source

The cochlear apex demystified: Implications from synchrotron radiation phase‐contrast imaging and microscopy for cochlear implantation

Journal of Anatomy, EarlyView.
This study is the first to present the detailed cellular organization and three‐dimensional (3D) tonotopic arrangement of the human organ of Corti, spiral ganglion, and central modiolus using synchrotron radiation phase‐contrast imaging (SR‐PCI) with matched histological cross‐sections.
Hao Li, Rudolf Glueckert, Anneliese Schrott‐Fischer, Karin Staxäng, Hanif M. Ladak, Helge Rask‐Andersen, Sumit Agrawal   +6 more
wiley   +1 more source

The relationship between maternal periodontitis and congenital cytomegalovirus: A hypothetical model and therapeutic implications

Periodontology 2000, EarlyView.
Abstract Background The primary goal of periodontology is to prevent tooth loss and reduce the risk of focal infections. Periodontitis lesions can harbor hundreds of thousands of active cytomegaloviruses (virions), which can easily enter the systemic circulation and potentially infect the fetus of a mother with compromised immunity.
Jørgen Slots
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source