نتایج جستجو برای: hypokalemic periodic paralysis
تعداد نتایج: 101793 فیلتر نتایج به سال:
INTRODUCTION AND OBJECTIVES Vocal fold paralysis (VFP) is a relatively common cause of stridor and dysphonia in the paediatric population. This report summarises our experience with VFP in the paediatric age group. METHODS All patients presenting with vocal fold paralysis over a 12-month period were included. Medical charts were revised retrospectively. The diagnosis was performed by flexible...
OBJECTIVE To electrophysiologically characterize the Na(v)1.4 mutant N440K found in a Korean family with a syndrome combining symptoms of paramyotonia congenita, hyperkalemic periodic paralysis, and potassium-aggravated myotonia. METHODS We characterized transiently expressed wild-type and mutant Na(v)1.4 using whole-cell voltage-clamp analysis. RESULTS N440K produced a significant depolari...
Seven families with familial hypokalaemic periodic paralysis were found in Finland. Nine of the 103 asymptomatic family members studied had abnormal results on a potassium exercise test. The overall prevalence of familial hypokalaemic periodic paralysis in Finland was 0.4/100,000. Carbohydrate intake and hard exercise were the most important triggers of paralytic attacks. Half of the patients r...
An increasing number of human diseases have been found to result from mutations in ion channels, including voltage-gated cation channels. Though the mutations are known, the pathophysiological mechanisms underlying many of these channelopathies remain unclear. In this issue of the Journal, Struyk and Cannon (see p. 11) provide evidence for a novel mechanism, proton movement catalyzed by the vol...
OBJECTIVES To determine the possible prognostic indicators of unilateral vocal fold paralysis (UVFP) and survey the timing and values of preset laryngeal electromyography (LEMG) rules for UVFP. DESIGN Cohort study with retrospective data analysis. SETTING Voice clinic of a tertiary medical center. PATIENTS Complete data for 45 patients diagnosed with idiopathic or iatrogenic UVFP. The LEM...
Mutations in the skeletal muscle voltage-gated calcium channel (CaV1.1) have been associated with hypokalemic periodic paralysis, but how the pathogenesis of this disorder relates to the functional consequences of mutations was unclear. In this issue of the JCI, Wu and colleagues recapitulate the disease by generating a novel knock-in CaV1.1 mutant mouse and use this model to investigate the ce...
Hypokalemic periodic paralysis is a rare but serious disorder that is typically caused by a channelopathy. Thyrotoxicosis, heavy exercise, high carbohydrate meal and some drugs can trigger channelopathy in genetically predisposed individuals. A 33-year-old male patient presented to the emergency department with weakness in the lower extremities. He stated that he had done heavy physical activit...
OBJECTIVES/HYPOTHESIS To determine whether injection augmentation reduces the likelihood of ultimately needing definitive framework surgery in unilateral vocal fold paralysis (UVFP) patients. STUDY DESIGN Retrospective cohort study. METHODS All patients diagnosed with UVFP (2008-2012) at the academic center were identified. The time from symptom onset to presentation to either community oto...
A new RT-PCR test has been developed to diagnose Chronic bee paralysis virus (CBPV) that is able to detect genetically variable viral isolates. In fact, up to 8.7% divergence between partial nucleotide sequences from viral isolates from French honey bees was highlighted in a preliminary variability study. The previously-described RT-PCR was unable to detect all these viral isolates and RT-PCR d...
"Partial paralysis" of the larynx is a term often used to describe a hypomobile vocal fold as is the term "paresis." We present a case of a dysphonic patient with a mobility disorder of the vocal fold, for whom idiopathic "partial paralysis" was the diagnosis made after laryngeal electromyography, and discuss a proposition for a different implementation of the term.
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