Results 141 to 150 of about 73,057 (270)

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

The Postnatal outcomES of Fetal Cortical mAlformations (PESCA) Study: A Multicentre Historical Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic paediatric cohorts, this study provides a new classification system. Design Multicentre retrospective cohort study.
Natalia Abadia‐Cuchi, Francesca Felici, Sophie Arulkumaran, Faraan Khan, Paolo Frassanito, Andrea Dall'Asta, Elvira di Pasquo, Elisa Bevilacqua, Amarnath Bhide, Tullio Ghi, Matia Martucci, Simona Gaudino, Basky Thilaganathan, Alessandra Familiari   +13 more
wiley   +1 more source

Hearing loss in Adult Women with Turner Syndrome [PDF]

, 2013
L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner.
Andreu Castelo-Branco, Camil, Salas Puig, Francisco Javier, Santamaria Cano, Joan, Tercero Uribe, Ana Isabel, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina   +5 more
core  

Chronic Low‐Level Lead Exposure Causes Auditory Impairment and Accelerates the Progression of Age‐Related Hearing Loss in C57BL/6J Mice

Aging Cell, EarlyView.
Chronic low‐concentration lead exposure accelerates the development of ARHL. Lead exposure mediates damage to cochlear sensory cells via the mitochondrial protease LONP1, leading to irreversible hearing loss. ABSTRACT Heavy metal ion exposure has become a global public health concern.
Xue Bai, Li‐Hua Cheng, Zhi‐Bin Zhou, Kai‐Lang Zhou, Yan‐Peng Fu, Bing Liao, Mei‐Qun Wang, Xu‐Bo Chen, Hong‐Ping Chen, Yue‐Hui Liu, Kai Xu   +10 more
wiley   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, EarlyView.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

Familial pattern of large vestibular aqueduct syndrome in a Chinese family [PDF]

, 2013
Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence ...
Ab Aziz, A, Asma, A, Hazmi, M
core  

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

Sensorineural hearing loss and language development following neonatal extracorporeal membrane oxygenation [PDF]

, 2012
OBJECTIVE: To determine the prevalence of hearing loss in school-age children who have undergone neonatal extracorporeal membrane oxygenation (ECMO) treatment and to identify any effects of hearing loss on speech- and language development.
Gischler, S.J. (Saskia), Goedegebure, A. (Andre), Hondel, D. (Desiree) van den, IJsselstijn, H. (Hanneke), Madderom, M.J. (Marlous), Mazer, P. (Petra), Tibboel, D. (Dick)   +6 more
core  

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

Sensorineural Hearing Loss in Hemodialysis Patients [PDF]

, 2010
Chronic renal failure affects all organ systems. Senses are not exception and hearing impairment is common, particularly sensorineural hearing loss (SNHL).
Dubravka Mihaljević, Hrvoje Roguljić, Lada Zibar, Marijana Jakić, Marko Jakić, Željko Kotromanović   +5 more
core   +1 more source