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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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Authors: Matthys H, Funk P Abstract OBJECTIVE: Patient-reported outcomes (PRO) such as health-related quality of life (HRQL) belong to the most important criteria for the evaluation of medical therapies in clinical trials or practice-based benefit assessments. We therefore revisited results of an earlier published clinical trial investigating the effects of the herbal drug preparation from the roots of Pelargonium sidoides EPs 7630, administered as add-on therapy in patients suffering from chronic obstructive pulmonary disease (COPD), with respect to HRQL and other PRO. METHODS: A total of 199 adults diagnosed ...
Source: Current Medical Research and Opinion - Category: Research Tags: Curr Med Res Opin Source Type: research
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Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news
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Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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Source: Medscape Today Headlines - Category: Consumer Health News Tags: Anesthesiology Journal Article Source Type: news
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Source: Drug Delivery - Category: Drugs & Pharmacology Tags: Drug Deliv Source Type: research
Contributors : Lodewijk J Toonen ; Willeke M van Roon-MomSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusWe have performed RNA sequencing analysis of brain tissue and blood from the MJD84.2 mouse model for SCA3 (described by Cemal et al, Human molecular genetics 2002, 11:1075-1094). Mice were 17.5 months of age at sacrifice and brainstem, cerebellum, cortex and striatum were sequenced. Transgenic SCA3 mice showed most transcriptional changes in striatum and brainstem. Axon guidance, synaptic transmission, pi-3k cascade and cholesterol biosynthesis pathways are implicated to be affecte...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
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Source: Indian Journal of Radiology and Imaging - Category: Radiology Authors: Source Type: research
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Source: Journal of Neurology - Category: Neurology Source Type: research
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Source: Journal of Cancer Research and Therapeutics - Category: Cancer & Oncology Authors: Source Type: research
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Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
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