A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD)

This study sought to describe the pathophysiology of dysphagia in a small sample of patients with OPMD using a videofluoroscopy examination (VFSS) involving 3  × 5 mL boluses of thin liquid barium (22% w/v). The aim of this study is to extend what is known about the pathophysiology of dysphagia in OPMD, by quantifying changes in swallow timing, kinematics, safety, and efficiency, measured from VFSS. This study is a secondary analysis of baseline VF SS collected from 11 adults (4 male), aged 48–62 (mean 57) enrolled in an industry-sponsored phase 2 therapeutic drug trial. Blinded raters scored the VFSS recordings for safety [Penetration-Aspiration Scale (PAS)], efficiency [Normalized Residue Ratio Scale (NRRS)], timing [Pharyngeal Transit Tim e (PTT), Swallow Reaction Time (SRT), Laryngeal Vestibule Closure Reaction Time (LVCrt), Upper Esophageal Sphincter Opening Duration (UESD)], and kinematics (hyoid movement, pharyngeal constriction, UES opening width). Impairment thresholds from existing literature were defined to characterize swall owing physiology and function. Further, Fisher’s Exact tests and Pearson’s correlations were used to conduct a preliminary exploration of associations between swallowing physiology (e.g., kinematics, timing) and function (i.e., safety, efficiency). Compared to published norms, we identified sign ificant differences in the degree of maximum pharyngeal constriction, hyoid movement distance and spee...
Source: Dysphagia - Category: Speech-Language Pathology Source Type: research

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We report that even before tumor formation, MuSCs exhibit increased self-renewal and an expression signature associated with RMSs. These cells can form tumorspheres in vitro and give rise to RMSs in vivo. Finally, we show that the inflammatory genes Ccl11 and Rgs5 are involved in RMS growth. Together, our results show that DMD severity drives MuSC-mediated RMS development.Graphical Abstract
Source: Cell Reports - Category: Cytology Source Type: research
This study evaluated the pharmacokinetics of ezutromid in patients with DMD who followed a balanced diet. This was a multicenter, double‐blind, placebo‐controlled, ascending single and multiple oral dose study. Twelve pediatric patients were randomly allocated to 1 of 3 treatment sequences within which were 3 treatment periods of 2 weeks each. Each patient received, in a dose‐escalating fashion, 1250 mg and 2500 mg twice daily (BID) of ezutromid administered orally as a microfluidized suspension (F3) with placebo in the other treatment period. Throughout the study, patients followed a balanced diet including recommen...
Source: Clinical Pharmacology in Drug Development - Category: Drugs & Pharmacology Authors: Tags: Original Manuscript Source Type: research
People with Duchenne muscular dystrophy (DMD) can develop an otherwise-rare muscle cancer, called rhabdomyosarcoma, due to the muscle cells' continuous work to rebuild the damaged tissue. However, little is known about how the cancer arises, hindering development of a treatment or test that could predict cancer risk.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Research Research and Development Source Type: news
DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). While DUX4's transcriptional activity has been extensively characterized, the DUX4-induced proteome remains undescribed. Here, we report concurrent measurement of RNA and protein levels in DUX4-expressing cells via RNA-seq and quantitative mass spectrometry. DUX4 transcriptional targets were robustly translated, confirming the likely clinical relevance of proposed FSHD biomarkers. However, a multitude of mRNAs and proteins exhibited discordant expression changes upon DUX4 expression. Our dataset revea...
Source: eLife - Category: Biomedical Science Tags: Genetics and Genomics Human Biology and Medicine Source Type: research
Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this st...
Source: Stem Cell Research and Therapy - Category: Stem Cells Authors: Tags: Short report Source Type: research
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age ...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Authors: Wellner G, Mordechay S, Evans P, Genin O, Pines M, Halevy O Abstract In Duchenne muscular dystrophy (DMD), the progressive loss of muscle and its ability to function is associated with significant fibrosis, representing the major disease complication in patients. Halofuginone, a halogenated analog of the naturally occurring febrifugine, has been shown to prevent fibrosis in various animal models, including those of muscular dystrophies. Here, two optically active enantiomers of deoxyhalofuginone-a halofuginone analogue in which the hydroxy group in position 3 was removed from the piperidinyl entity-were ev...
Source: Histology and Histopathology - Category: Cytology Tags: Histol Histopathol Source Type: research
Publication date: Available online 11 January 2019Source: Autoimmunity ReviewsAuthor(s): Céline Anquetil, Olivier Boyer, Nadège Wesner, Olivier Benveniste, Yves AllenbachAbstractOver the past few years, myositis-specific autoantibodies played an increasing role in the inflammatory idiopathic myositis definition. They became the critical immunological marker for immune-mediated necrotizing myopathy diagnosis (IMNM) since the paradigm switch from histological to serological criteria.This review is focused on the key role of the anti-signal recognition particle (anti-SRP) and the anti-3-Hydroxy-3-MethylGlutaryl-...
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
CONCLUSIONS: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA. PMID: 30623622 [PubMed - in process]
Source: Annals of Laboratory Medicine - Category: Laboratory Medicine Tags: Ann Lab Med Source Type: research
Contributors : Hiroyuki Shibasaki ; Michihiro Imamura ; Sayuri Arima ; Jun Tanihata ; Mutsuki Kuraoka ; Yasunari Matsuzaka ; Fumiaki Uchiumi ; Sei-ichi Tanuma ; Shin ’ichi TakedaSeries Type : Non-coding RNA profiling by arrayOrganism : Canis lupus familiarisMicroRNAs (miRNAs) are non-coding small RNAs that regulate gene expression at the post-transcriptional level. Several miRNAs are exclusively expressed in skeletal muscle and participate in the regulation of muscle differentiation by interacting with myogenic factors. These miRNAs can be found at high levels in the serum of patients and animal models for Duchenne m...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by array Canis lupus familiaris Source Type: research
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