Results 51 to 60 of about 89,097 (346)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Facing up to the challenge of behavioural observation in infant hearing assessment [PDF]

, 2018
The ability to assess detection and discrimination of speech by infants has proved elusive. Dr Iain Jackson and colleagues discuss how new technologies and fresh approaches might offer valuable insight into young infants’ behavioural responses to ...
Hunter, L., Jackson, I., Jones, P. R., Moore, D., Munro, K.   +4 more
core   +1 more source

Narrative review on embracing advances in technology for clinical teaching and learning in audiology: opportunities delivered by COVID-19 to the South African academy

Frontiers in Education
BackgroundThe COVID-19 pandemic precipitated a global shift in education and healthcare delivery, including the field of audiology. In South Africa, the sudden transition to remote learning and tele-healthcare posed unique challenges, particularly given ...
Katijah Khoza-Shangase
doaj   +1 more source

Editorial

Audiology Research, 2011
It is our pleasure to announce the first issue of Audiology Research. This new journal was designed to be a place where the readers will quickly and clearly find up-to-date and highquality information related to the audiology field in a broad sense ...
G. Tognola
doaj   +1 more source

Audiogram Digitization Tool for Audiological Reports

IEEE Access, 2022
Multiple private and public insurers compensate workers whose hearing loss can be directly attributed to excessive exposure to noise in the workplace.
Francois Charih, James R. Green
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen, Vibeke Backer, Anne Sophie Homøe, Thomas H. L. Jensen, Kasper Aanæs, Howraman Meteran, Morten Hostrup, Lukas Moesgaard, Christiane Haase, Peter G. Gibson   +9 more
wiley   +1 more source

Tactile hypo‐responsivity in autism: Examining potential for diagnostic relevance

JCPP Advances, EarlyView.
The study reported in this paper examined the utility of a brief tactile reactivity assessment in differentiating autistic children from those with other neurodevelopmental concerns and the association between tactile responsivity, autism symptomatology, developmental level, and adaptive skills.
Girija Kadlaskar, Rebecca McNally Keehn, Riley Rozniarek, Nina Pan Fujii, Brandon Keehn   +4 more
wiley   +1 more source

Best practice in audiology: context matters

Frontiers in Audiology and Otology
Historically, modern audiology evolved from the United States of America (USA) after the Second World War, where hearing rehabilitation programs were established across the country.
Vera-Genevey Hlayisi, Vera-Genevey Hlayisi, Vidya Ramkumar, Vidya Ramkumar, Lucretia Petersen, Lucretia Petersen, Barnabas Vangerwua, Barnabas Vangerwua   +7 more
doaj   +1 more source

Are sensory processing difficulties in infancy predictive of child mental health at 5‐years? Findings from the Etude Longitudinale Francaise depuis l'Enfance French national birth cohort

JCPP Advances, EarlyView.
Abstract Background People with neurodevelopmental and mental health conditions have been demonstrated to have elevated rates of sensory processing (SP) difficulties in research and practice but the temporal order of this relationship is unclear. Methods This study sought to investigate whether SP difficulties in infancy predicted mental health at 5 ...
Emma Butler, Michelle Spirtos, Mary Clarke   +2 more
wiley   +1 more source