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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: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusions: The physiological mechanism of PES may consist in restoration of sensory feedback, which is known to be crucial for the execution of a safe swallow. SP possibly acts as a biomarker for indicating response to PES.Neurosignals 2017;25:74 –87
Source: Neurosignals - Category: Neurology Source Type: research
This study provides new insights into the phenotypic spectrum and to the genotype-phenotype correlations associated with EAST/SeSAME and MMFSI.
Source: Journal of Neurophysiology - Category: Neurology Authors: Tags: Research Articles Source Type: research
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Source: Radiotherapy and Oncology - Category: Radiology Authors: Source Type: research
Authors: Al Maani A, Al Qayoudhi A, Nazir HF, Omar H, Al Jardani A, Al Muharrmi Z, Wali Y Abstract OBJECTIVES: A resurgence of pertussis or whooping cough has been observed worldwide despite broad vaccination coverage. Pertussis like illness (PLI) refers to a clinical syndrome compatible with pertussis infection but lacking laboratory confirmation or an epidemiological link to a confirmed case. Our study aimed to estimate the contribution of Bordetella pertussis infection and identifying predictors of its diagnosis in a cohort of children with PLI. METHODS: Demographic and clinical information were retrospectiv...
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
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Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
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Source: DailyMed Drug Label Updates - Category: Drugs & Pharmacology Source Type: alerts
Summary During the last decade, West Nile virus (WNV) outbreaks have increased sharply in both horses and human in Europe. The aims of this study were to evaluate characteristics and spatio‐temporal distribution of WNV outbreaks in horses in Spain between 2010 and 2016 in order to identify the environmental variables most associated with WNV occurrence and to generate high‐resolution WNV suitability maps to inform risk‐based surveillance strategies in this country. Between August 2010 and November 2016, a total of 403 WNV suspected cases were investigated, of which, 177 (43.9%) were laboratory confirmed. Mean values ...
Source: Transboundary and Emerging Diseases - Category: Veterinary Research Authors: Tags: ORIGINAL ARTICLE Source Type: research
IgG4‐related disease (IgG4‐RD) is a systemic fibroinflammatory disease characterized by tumefactive lesions in various organ systems, including the lungs. Clinical and radiological manifestations of IgG4‐RD are relatively non‐specific, and we report a case highlighting the importance of histopathological confirmation in cases of suspected IgG4‐related lung disease. A 44‐year‐old male with significantly elevated serum IgG4 levels, patchy consolidation on thoracic CT imaging, and cough was referred with suspected IgG4‐related lung disease. However, surgical lung biopsy revealed an unexpected diagnosis of pulm...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
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