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Dysphagia in Friedreich Ataxia

The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS). Data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration,FXN intron 1 GAA repeat sizes, and Friedreich Ataxia Rating Scale (FARS) score). Predictors of airway penetration/aspiration were explored using logistic regression analysis. Ninety-eight percent (59/60) of participants reported dysphagia, of whom 35 (58.3%) underwent FDA-2 assessment, and 38 (63.3%) underwent VFSS. Laryngeal, respiratory, and tongue dysfunction was observed  on the FDA-2. A Penetration–Aspiration Scale score above 3 (deemed significant airway compromise based on non-clinical groups) was observed on at least one consistency in 13/38 (34.2%) participants. All of those who aspirated (10/38, 26.3%) did so silently, with no overt signs of airway entry su ch as reflexive cough. Significant correlations were observed between dysphagic symptoms and disease duration and severity. No reliable predictors of ...
Source: Dysphagia - Category: Speech Therapy Source Type: research

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Source: Otology and Neurotology - Category: ENT & OMF Tags: Vestibular Disorders Source Type: research
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Source: Journal of Neuroscience Methods - Category: Neuroscience Source Type: research
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Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
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Source: Journal of Tropical Medicine - Category: Tropical Medicine Tags: J Trop Med Source Type: research
Updated Date: Aug 18, 2017 EST
Source: DailyMed Drug Label Updates - Category: Drugs & Pharmacology Source Type: alerts
Updated Date: Aug 18, 2017 EST
Source: DailyMed Drug Label Updates - Category: Drugs & Pharmacology Source Type: alerts
ins High-risk human papillomaviruses (HPVs) are the causative agents of cervical and other genital cancers. In addition, HPV infections are associated with the development of many oropharyngeal cancers. HPVs activate and repress a number of host cellular pathways to promote their viral life cycles, including those of the DNA damage response. High-risk HPVs activate the ataxia telangiectasia-mutated (ATM) and ATM and Rad3-related (ATR) DNA damage repair pathways, which are essential for viral replication (particularly differentiation-dependent genome amplification). These DNA repair pathways are critical in maintaining ...
Source: Viruses - Category: Virology Authors: Tags: Review Source Type: research
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Source: Pulmonary Pharmacology and Therapeutics - Category: Respiratory Medicine Source Type: research
Publication date: Available online 17 August 2017 Source:Neurologia i Neurochirurgia Polska Author(s): Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, Jarosław Sławek Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, ...
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research
Publication date: Available online 18 August 2017 Source:Neuroscience & Biobehavioral Reviews Author(s): Louisa P. Selvadurai, Ian H. Harding, Louise A. Corben, Nellie Georgiou-Karistianis Friedreich ataxia (FRDA) is an inherited degenerative disorder affecting multiple systems of the body and resulting in symptoms which include progressive ataxia, dysarthria, and cardiomyopathy. Central nervous system pathology has been traditionally ascribed to the spinal cord and dentate nucleus of the cerebellum. However, cerebral abnormalities in FRDA are being increasingly documented via multiple neuroimaging techniques. Underst...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
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