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Electrophysiological Abnormalities (electrophysiological + abnormality)
Selected AbstractsLeprous neuropathy: a clinical and neurophysiological studyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2004E Ghiglione Leprosy is one of the most common treatable causes of neuropathy in the world. Peripheral nerves and skin are commonly affected. We reported the clinical features and electrophysiological findings in 46 patients with leprosy. The aim of our study was to evaluate the nature of damage in the nerve fibres, especially in the first phase of disease. Forty-six patients (mean age: 44.8 ± 17.8) with diagnosed leprosy were studied by neurological examination and nerve conduction studies (NCS). Twenty-eight patients were examined for a mean period of 34.8 months. The number of tests for patients varied from 1 to 13 controls. Amplitude of sensory and motor action potentials (SNAP and MAP), sensory-motor conduction velocity of median, ulnar, tibialis, peroneal and sural nerves were evaluated. Abnormalities were found in 282 of 647 nerves investigated (37.56%), sensory nerve abnormalities being more frequent than motor (50.16% 29.45). Of 282 nerves with neurophysiological abnormalities, 123 were clinically asymptomatic (43.62%). A statistically significant correlation between duration of disease and number of electrophysiological abnormalities was demonstrated. In 19 nerves partial "conduction-block"(reduction of cMAP > 50% in the proximal response) was individuated. The first electrophysiological alteration, suggesting segmental demyelination, was detected in 41 nerves of 21 patients (33.3 %). According to this view, our data support the hypothesis that leprosy induces a neuropathy of demyelinating nature in the first phase. [source] ELECTROPHYSIOLOGICAL ABNORMALITIES IN DIABETIC PATIENTSJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2000B. Lanzillo We studied 476 patients affected by diabetes: 166 male (mean age 61.6 ± 10 years, range 27,91) and 310 female (mean age 61.5 ± 8.4 years, range 25,82). Mean disease duration was 11.3 ± 7.6 years, range 0.3,37). All patients underwent surface motor and sensory nerve conduction along median, popliteal, and sural nerve. Results. Median nerve: in 3.1% of subjects sensory action potentials (SAP) was absent; sensory nerve conduction velocity (SNCV) was reduced in 41.8% in distal segment and in 27.5% in the proximal segment. Motor nerve conduction (MNCV) was reduced in 29.9% of the subjects. Sural nerve: SAP was absent in 24.4% and SNCV was reduced in 32.7%. Popliteal nerve: MNCV was abnormal in 30.4% of the subjects. Combining electrophysiological data we observed that: 1. 28.6% of the subjects resulted normal 2. 12.8% were affected by a lower limbs sensory neuropathy 3. 0.2% had a lower limbs motor neuropathy 4. 5.9% had a lower limbs sensory-motor neuropathy 5. 6.1% had a diffused sensory neuropathy 6. 30.2% had a diffused sensory-motor neuropathy 7. 16.2% had a carpal tunnel syndrome. Patients were divided in 2 groups: patients with and patients without neuropahy: the latter showed a significantly shorter disease duration (12.7 ± 8.1 vs 9.0 ± 6.3; p < 0.0001). In addition, we observed a significant correlation between disease duration and distal latency, median and popliteal MNCV, and SNCV in median and sural nerve (Regression test; p < 0.0001). Patients on insulin showed a longer disease duration and more severe electrophysiological abnormalities. [source] 2461: Increasing complexity of ocular genetic diseases : the case of BEST diseaseACTA OPHTHALMOLOGICA, Issue 2010M ABITBOL Purpose Monogenic diseases until recently appeared simple from a molecular genetics point of view but correlations between genotypes and phenotypes still remain difficult to establish in many diseases and for many genes. For autosomal dominant diseases such as Best Vitelliform Macular Dystrophy, supposed to be a juvenile disease, it appears that mutations of BEST1 gene can cause multiple phenotypes including early onset and late onset phenotypes as well as unexpected phenotypes such as RP. We report several novel mutations and their associated phenotypes and describe phenotypes linked to previously reoported mutations for which the phenotype had not been describe at all previously. The role of SOX9, MITF and OTX2 in the incomplete penetrance and the variable expressivity of BVMDs is duscussed as well the potential roles of SNPs occuring in coding exons Methods We used genomic PCR with appropriate primers flanking all the exons of the BEST1 gene in order to amplify them. This Genomic PCR was followed by automated sequencing and careful analysis of the sequences obtained. Results We report the case of an unusual family where the Mother II2 of the proband III1, his maternal aunt II3, his brother III3 and his first cousin IIIIV, the son of his maternal aunt, carry a missense mutatation causing apparently only electrophysiological abnormalities. The Father II1 of the proband III1 turned out to carry a stop codon instead of the fifth normal BEST1 codon. The father did not display any electrophysiological nor any clinical abnormality and has a perfect monocular and binocular vision. In contrast the proband III1 carries both mutations with a severe phenotype. Conclusion This report exemplifies the necessity to study all family members in the case of BVMDs. [source] QT Interval Correction in Patients with CirrhosisJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 1 2007ANDREA ZAMBRUNI M.D. Introduction: QT interval prolongation is a common electrophysiological abnormality in patients with cirrhosis. As QT interval varies with the heart rate, many QT correction formulas have been proposed, the Bazett's one being the most criticized because it overcorrects the QT interval and may be misleading. This study focused on the QT-RR relationship in patients with cirrhosis to derive a population-specific QT correction formula. Methods: One hundred cirrhotic patients of different etiology and severity and 53 healthy controls comparable for age and sex were enrolled. The QT-RR relationship was analyzed in patients by five regression analysis models to derive the population-specific QT-RR equation. The QTc was calculated and compared with those calculated by four common QT correction formulas (Bazett, Fridericia, Framingham, and Hodges). The correlation coefficient QTc-RR was calculated as a measure of the independence of QTc from the original RR interval. Results: In patients the QT-RR relationship was best described by the power equation "QT = 453.65 × RR1/3.02" (R2= 0.41), similar to the Fridericia's formula. Bazett's formula led to the longest QTc (P < 0.0001), which was still significantly influenced by the RR interval (R =,0.39; P < 0.0001), while the estimated equation led to a QTc value not influenced by RR (R =,0.014). Conclusion: Bazett's correction should be avoided in patients with cirrhosis because it still provides a rate-dependent QTc value and might be misleading, particularly when assessing the overall preoperative cardiac risk and the effect of drugs affecting the QT interval. In its place, our formula or that of Fridericia can be confidently employed. 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