Results 81 to 90 of about 247,945 (341)

Benign External Hydrocephalus in a Subgroup of Autistic Children Prior to Autism Diagnosis

Autism Research, EarlyView.
ABSTRACT Benign external hydrocephalus (BEH) is evident in < 0.6% of births. It is defined by abnormally large cerebrospinal fluid (CSF) volumes in the subarachnoid space (SAS) and otherwise normal neuroimaging findings before 2 years of age. BEH has not been associated with specific developmental disorders and is not treated because it usually ...
Gal Ben‐Arie, Ilan Shelef, Gal Meiri, Idan Menashe, Ilan Dinstein, Ayelet Arazi   +5 more
wiley   +1 more source

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

Molecular Therapy: Methods & Clinical Development, 2016
X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding the protein retinoschisin (RS1) and is one of the most common causes of macular degeneration in young men.
Dario Marangoni, Ronald A Bush, Yong Zeng, Lisa L Wei, Lucia Ziccardi, Camasamudram Vijayasarathy, Joshua T Bartoe, Kiran Palyada, Maria Santos, Suja Hiriyanna, Zhijian Wu, Peter Colosi, Paul A Sieving   +12 more
doaj   +1 more source

Development of Respiratory Sinus Arrhythmia in Young Infants With Autism Spectrum Disorder, Preterm Birth, and Typical Development

Autism Research, EarlyView.
ABSTRACT Respiratory sinus arrhythmia (RSA) is a key index of parasympathetic function and environmental adaptability. Lower resting RSA has been linked to preterm (PT) birth in infancy and autism spectrum disorder (ASD) in childhood, yet RSA across the first 2 years in young infants born PT or later diagnosed with ASD remains unknown.
Jessica Bradshaw, John E. Richards, Julia Yurkovic‐Harding, Eilis McLaughlin   +3 more
wiley   +1 more source

The acoustic change complex as a diagnostic tool for cochlear dead regions evaluated in normally hearing adults

Scientific Reports
The loss of inner hair cells and/or neurons in the cochlea leads to cochlear dead regions (DRs). One of the consequences of DRs is noisy transmission of information from the cochlea to the brain, which results in poorer than expected perception of speech
Anna Schelenz, Emanuele Perugia, Lin Wu, Ewa Skrodzka, Karolina Kluk   +4 more
doaj   +1 more source

TMC1 and TMC2 Localize at the Site of Mechanotransduction in Mammalian Inner Ear Hair Cell Stereocilia

Cell Reports, 2015
Mechanosensitive ion channels at stereocilia tips mediate mechanoelectrical transduction (MET) in inner ear sensory hair cells. Transmembrane channel-like 1 and 2 (TMC1 and TMC2) are essential for MET and are hypothesized to be components of the MET ...
Kiyoto Kurima, Seham Ebrahim, Bifeng Pan, Miloslav Sedlacek, Prabuddha Sengupta, Bryan A. Millis, Runjia Cui, Hiroshi Nakanishi, Taro Fujikawa, Yoshiyuki Kawashima, Byung Yoon Choi, Kelly Monahan, Jeffrey R. Holt, Andrew J. Griffith, Bechara Kachar   +14 more
doaj   +1 more source

Studying gap junction beta 2-related deafness in Iranian population [PDF]

, 2017
Hearing loss is the most common sensory disorder in humans, from every 1000 births, 1 is affected by severe to profound deafness. Many genes are involved in deafness that GJB2 gene is one of the most important ones and encodes the connexin 26 proteins ...
Hashemzadeh-Chaleshtori, Morteza., Mahmoudian Sani, Mohammad Reza., Mehri-Ghahfarrokhi, Ameneh., Shojaeian, Ali.   +3 more
core  

Psychosocial Outcomes in Long-Term Cochlear Implant Users [PDF]

, 2018
OBJECTIVES: The objectives of this study were to investigate psychosocial outcomes in a sample of prelingually deaf, early-implanted children, adolescents, and young adults who are long-term cochlear implant (CI) users and to examine the extent to ...
Castellanos, Irina, Kronenberger, William G., Pisoni, David B.   +2 more
core   +1 more source

Paediatric rare diseases: Can large language models assist off‐label prescribing?

British Journal of Clinical Pharmacology, EarlyView.
Aims To evaluate the effectiveness and reliability of large language models (LLMs) in retrieving and synthesizing biomedical information to support off‐label drug prescribing in paediatric rare diseases, and to compare their performance with human‐authored references in terms of scientific rationale, adverse events and drug interactions.
Anna Flamigni, Giulia Zamagni, Gilda Paternuosto, Anna Arbo   +3 more
wiley   +1 more source

The genetics of deafness in domestic animals

Frontiers in Veterinary Science, 2015
Although deafness can be acquired throughout an animal’s life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant problem in several species.
George M Strain
doaj   +1 more source

Not hearing us: An exploration of the experience of deaf prisoners in English and Welsh prisons [PDF]

, 2012
This research explores the experiences of profoundly deaf prisoners in England and Wales. It analyses current provisions for deaf prisoners and uses interviews and case studies to investigate the manner in which provision is delivered in order to make a ...
McCulloch, Daniel
core