Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Synchrony, complexity and directiveness in mothers\u27 interactions with infants pre- and post-cochlear implantation [PDF]
, 2014 This study investigated effects of profound hearing loss on mother–infant interactions before and after cochlear implantation with a focus on maternal synchrony, complexity, and directiveness.
Bergeson, Tonya R. +2 more
core +1 more source
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Hearing with a cochlear implant: from bionic to bimodal listening [PDF]
, 2014 Introduction: Currently, cochlear implantation (CI) is the standard procedure for bilateral severe hearing loss in both children and adults. However, a considerable number of hearing-impaired patients, who are candidates for CI, have residual hearing in ...
Dhooge, Ingeborg +2 more
core +1 more source
Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley +1 more source
The Scholarly Studio: Developing a new aesthetic of the multi-camera television studio as an academic research tool [PDF]
, 2016 This paper examines the potential to develop live multi-camera screen production methods as a scholarly tool. Drawing on experimental work in broadcasting in the 1970s and early 1980s, exemplified by The Journal of Bridget Hitler (BBC1981 – dir Philip ...
Hearing, Trevor
core
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Case Reports in OtolaryngologyConclusion: We presented a successful case of surgical resection of a chondroblastoma in the anterior skull base. Additionally, we reviewed the existing literature and previously documented cases.
Mohsen Fazli +7 more
doaj +1 more source
Benefit From Directional Microphone Hearing Aids: Objective and Subjective Evaluations [PDF]
Clinical and Experimental Otorhinolaryngology, 2015 ObjectivesThe aims of this study were to find and compare the effect of directional (DIR) processing of two different hearing aids via both subjective and objective methods, to determine the association between the results of the subjective and objective
Hee-Sung Park +5 more
doaj +1 more source
Early-auditory intervention in children with hearing loss and neurodevelopmental outcomes: cognitive, motor and language development [PDF]
, 2021 Pelin Çelik +5 more
openalex +1 more source