Pharyngolaryngeal function during swallowing was investigated cineradiographically in 22 patients with paresis of the recurrent nerve. Nineteen of these patients (86%) had defective closure of the laryngeal vestibule: 10 patients had defective apposition of the corniculate cartilages, (paresis of the oblique cricoarytenoid muscle), 9 patients had defective apposition of the arytenoid cartilages, (paresis of the interarytenoid muscle), 13 patients had defective movement of the epiglottis (paresis of, i.a. the thyrohyoid muscle), 1 patient had defective closure of the subepiglottic portion of the vestibule (paresis of the thyroepiglottic muscle), 2 patients had defective closure of the supraglottic portion of the vestibule (paresis of the superior ventricular segment of the thyroarytenoid muscle). Five patients with immobility of the epiglottis also had paresis of the pharyngeal constrictor musculature indicating paresis of the superior laryngeal nerve. Our investigation has shown that patients with paresis of the recurrent nerve who present with dysphagia with or without aspiration should be examined cineradiographically for pharyngolaryngeal function during swallowing.
Sleep disordered breathing (SDB) is common in patients with coronary disease, but its impact on post-operative recovery after coronary artery bypass graft surgery (CABG) is unclear. We therefore determined the effects of SDB on post-operative outcome after elective CABG.In this prospective two-centre study, 219 patients due to receive elective CABG underwent cardiorespiratory polygraphy for SDB prior to surgery and were monitored for post-operative complications. The primary end-point was a composite of 30-day mortality or major post-operative complications (cardiac, respiratory, surgical, infectious, acute renal failure or stroke). Key secondary end-points were single components of the primary end-point.SDB was present in 69% and moderate/severe SDB in 43% of the CABG patients. There was no difference in the composite of 30-day mortality or major postoperative complications between patients with and without SDB (OR 0.97, 95% CI 0.49-1.96) and between patients with moderate/severe SDB and no/mild SDB (OR 1.07, 95% CI 0.55-2.06). However, moderate/severe SDB was associated with higher rates of mortality (crude OR 10.1, 95% CI 1.22-83.5), sepsis (OR 2.96, 95% CI 1.17-7.50) and respiratory complications (OR 2.85, 95% CI 1.46-5.55).Although SDB was not associated with higher overall morbidity/mortality, moderate/severe SDB may increase the risk of death, and septic and respiratory complications, after elective CABG.
Cardiac/vascular dysfunction in prodromal α-synucleinopathy arises from peripheral rather than from central autonomic degeneration. Autonomic indices encoded in heart rate and blood pressure variability are precise functional markers of early synuclein-mediated neurodegeneration.
Fatal familial insomnia (FFI) is a rare, hereditary prion-protein disease. Methionine-valine polymorphism at codon 129 of the prion-protein gene (PRNP) determines the phenotype in other hereditary prion-protein diseases, but association with the clinical phenotype in FFI remains uncertain. Early clinical fi ndings in FFI comprise disturbances of the sleep-wake cycle and mild neuropsychiatric changes which typically emerge during middle to late adulthood. Here we describe an unusually early onset and rapid progression of FFI associated with dorsal midbrain involvement in a female patient with PRNP mutation at codon 178 and homozygote methionine polymorphism at codon 129. Early dorsal midbrain involvement became apparent by total loss of REM sleep and isolated bilateral trochlear nerve palsy.Early onset and rapid progression disease type associated with dorsal midbrain involvement may indicate a different spatiotemporal distribution of the neurodegenerative process in FFI patients with PRNP mutation and codon 129 methionine homozygosity compared to methioninevaline heterozygosity. C A S E R E P O R T SF atal familial insomnia (FFI) is a rare, autosomal-dominant inherited prion-protein (PrP) disease, which has been documented in 27 pedigrees worldwide. It is attributable to a PRNP missense-mutation at codon 178 and methioninevaline polymorphism at codon 129 on chromosome 20. FFI is always fatal and affects both sexes equally. Mean age at onset of disease is around 50 years, while the duration of the disease varies from 8 to 72 months. Early clinical features in FFI combine subtle disturbances of the sleep-wake cycle, sleep abnormalities such as loss of sleep spindles plus mild neuropsychiatric changes. 1 PRNP codon 129 polymorphism determines clinical phenotype in other hereditary prion diseases such as familial Creutzfeldt-Jakob disease (fCJD) by modifying PrP conformation and protein-protein interaction. Genetic analysis for PRNP codon 129 polymorphism, however, were only carried out in less than the half of the published FFI cases.1 Therefore it remains uncertain to which degree PRNP codon 129 polymorphism infl uences the clinical phenotype of FFI.To contribute to elucidating the infl uence of methioninevaline polymorphism on clinical phenotype, we report a case with unusual early onset and rapid progression of FFI associated with early dorsal midbrain involvement in a patient with PRNP missense-mutation at codon 178 and homozygote methionine polymorphism at codon 129, indicating a different clinical phenotype in FFI patients with PRNP mutation and codon 129 methionine homozygosity compared to methionine-valine heterozygosity. Does the Clinical REPORT OF CASEA 23-year-old female, presented with double vision emerging when looking down and to the left and right. Neuroophthalmological examination showed superior oblique motility defi cits on both sides indicative of bilateral trochlear nerve palsy. Apart from that neurological and neuropsychological examination was normal. Neurological work-up excluded neuromusc...
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