A Case of Acute Polyneuropathy with Nephrotic Syndrome Showing Transient Proximal Sensory Conduction Defects

Acute sensorimotor polyneuropathy that resembles Guillain-Barré syndrome (GBS) is rarely accompanied with nephrotic syndrome, and its underlying immunological mechanisms are unclear. A 56-year-old man presented with simultaneous acute progressive symmetric sensorimotor polyneuropathy and proteinuria. A kidney biopsy revealed focal segmental glomerulosclerosis. Serial electrophysiologic studies showed only a transient proximal conduction block in the median nerve, stimulated somatosensory evoked potential and prolonged terminal latencies of the median and peroneal nerves. The patient's neurologic deficits and kidney dysfunction recovered with corticosteroid treatment. Our case showed that somatosensory evoked potential study can be an important objective tool in the diagnosis of acute polyneuropathy with normal distal nerve conduction and that corticosteroids should be considered in the initial treatment of GBS-resembling polyneuropathy associated with nephrotic syndrome

Repetitive Nerve Stimulation Test in Amyotrophic Lateral Sclerosis with Predominant Oropharyngeal Manifestations

BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) patients display easy fatigability and abnormal decrements on repetitive nerve stimulation (RNS) test of clinically involved limb muscles, which can result in ALS being misdiagnosed as myasthenia gravis. We retrospectively analyzed the RNS tests of ten ALS patients with only or predominant oropharyngeal symptoms without ocular or facial weakness. METHODS: RNS tests were performed on the abductor digiti quinti, flexor carpi ulnaris, orbicularis oculi (OO), nasalis and trapezius muscles at low-rate stimulation frequencies of 3 and 5-Hz. Decrements greater than 10% of the compound muscle action potential amplitude on the fifth stimulation compared to the first was regarded as abnormal. RESULTS: Six patients complained of muscular fatigue or diurnal fluctuation. Among the ten patients, three exhibited abnormal decrements during low-rate stimulation in the facial muscles but not in the limb muscles, two exhibited abnormal decrements in the OO and nasalis muscles, and one exhibited abnormal decrements in the OO muscle. CONCLUSIONS: These findings show that the facial muscles may be involved in some early oropharyngeal forms of ALS, although facial weakness may not be clinically evident. We confirm herein that abnormal decrement of facial muscles to RNS test cannot make a definite diagnose for myasthenia gravis.ope

Ubiquitous-Severance Hospital Project: Implementation and Results

OBJECTIVES: The purpose of this study was to review an implementation of u-Severance information system with focus on electronic hospital records (EHR) and to suggest future improvements. METHODS: Clinical Data Repository (CDR) of u-Severance involved implementing electronic medical records (EMR) as the basis of EHR and the management of individual health records. EHR were implemented with service enhancements extending to the clinical decision support system (CDSS) and expanding the knowledge base for research with a repository for clinical data and medical care information. RESULTS: The EMR system of Yonsei University Health Systems (YUHS) consists of HP integrity superdome servers using MS SQL as a database management system and MS Windows as its operating system. CONCLUSIONS: YUHS is a high-performing medical institution with regards to efficient management and customer satisfaction; however, after 5 years of implementation of u-Severance system, several limitations with regards to expandability and security have been identifiedope

Effectiveness of Real-Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies

The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and of hereditary neuropathy with a liability to pressure palsies (HNPP) are the result of heterozygosity for the duplication or deletion of peripheral myelin protein 22 gene (PMP22) on 17p11.2. Southern blots, pulsed-field gel electrophoresis (PFGE), fluorescence in situ hybridization (FISH) and polymorphic marker analysis are currently used diagnostic methods. But they are time-consuming, labor-intensive and have some significant limitations. We describe a rapid realtime quantitative PCR method for determining gene copy number for the identification of DNA duplication or deletion occurring in CMT1A or HNPP and compare the results obtained with REP-PCR. Six patients with CMT1A and 14 patients with HNPP [confirmed by Repeat (REP)-PCR], and 16 patients with suspicious CMT1A and 13 patients with suspicious HNPP [negative REP-PCR], and 15 normal controls were studied. We performed REP-PCR, which amplified a 3.6 Kb region (including a 1.7 Kb recombination hotspot), using specific CMT1A-REP and real-time quantitative PCR on the LightCycler system. Using a comparative threshold cycle (Ct) method and β-globin as a reference gene, the gene copy number of the PMP22 gene was quantified. The PMP22 duplication ratio ranged from 1.35 to 1.74, and the PMP22 deletion ratio from 0.41 to 0.53. The PMP22 ratio in normal controls ranged from 0.81 to 1.12. All 6 patients with CMT1A and 14 patients with HNPP confirmed by REP-PCR were positive by real-time quantitative PCR. Among the 16 suspicious CMT1A and 13 suspicious HNPP with negative REP-PCR, 2 and 4 samples, respectively, were positive by real-time quantitative PCR. Real-time quantitative PCR is a more sensitive and more accurate method than REP-PCR for the detection of PMP22 duplications or deletions, and it is also faster and easier than currently available methods. Therefore, we believe that the real-time quantitative method is useful for diagnosing CMT1A and HNPP

A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy

Background and PurposeᄏAt least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family have been reported only rarely. MethodsᄏFifty-three members of a large MH family were investigated with clinical, histopathologic, RYR1 mutation, and haplotyping studies. Blood creatine kinase (CK) and myoglobin levels were also measured where possible. ResultsᄏSequencing of the entire RYR1 coding region identified a double RYR1 mutation (R2435H and A4295V) in MH/CCD regions 2 and 3. Haplotyping analysis revealed that the two missense heterozygous mutations (c.7304G>A and c.12891C>T) were always present on a common haplotype allele, and were closely cosegregated with histological multiminicores and elevated serum CK. All the subjects with the double mutation showed elevated serum CK and myoglobin, and the obtained muscle biopsy samples showed multiminicore lesions, but only two family members presented a late-onset, slowly progressive myopathy. ConclusionsᄏWe found multiminicore myopathy with clinical and histological variability in a large MH family with an unusual double RYR1 mutation, including a typical CCD-causing known mutant. These results suggest that multiminicore lesions are associated with the presence of more than two mutations in the RYR1 gene.ope

Clinical Characteristics and Outcomes of Juvenile and Adult Dermatomyositis

Dermatomyositis (DM) is an idiopathic inflammatory myopathy with bimodal onset age distribution. The age of onset is between 5-18 yr in juvenile DM and 45-64 yr in adult DM. DM has a distinct clinical manifestation characterized by proximal muscle weakness, skin rash, extramuscular manifestations (joint contracture, dysphagia, cardiac disturbances, pulmonary symptoms, subcutaneous calcifications), and associated disorders (connective tissue disease, systemic autoimmune diseases, malignancy). The pathogenesis of juvenile and adult DM is presumably similar but there are important differences in some of the clinical manifestations, associated disorders, and outcomes. In this study, we investigated the clinical characteristics and outcomes of 16 patients with juvenile DM and 48 with adult DM. This study recognizes distinctive characteristics of juvenile DM such as higher frequency of neck muscle involvement, subcutaneous calcifications, and better outcomes

CCR2-64I and CCR5Δ32 Polymorphisms in Korean Patients with Myasthenia Gravis

BACKGROUND AND PURPOSE: Chemokines participate in the regulation of immune and inflammatory responses by interacting with their receptors, which are primarily expressed on immune and inflammatory cells such as B- and T-lymphocytes and antigen-presenting cells. Chemokines and their receptors are therefore considered to mediate inflammation and tissue damage in autoimmune disorders. Chemokine receptor (CCR) genotypes were recently identified, and the importance of their genetic polymorphisms in some autoimmune and infectious disorders has been demonstrated. To define the roles of the polymorphism of the CCR2 gene at codon 64 (CCR2-64I) and the 32-bp deletion in the coding region of CCR5 (CCR5Delta32) in Korean patients with myasthenia gravis (MG), we compared these genotypes in MG cases and healthy controls and investigated the clinical features associated with these genotypes. METHODS: One hundred and fifteen healthy controls (51 men and 64 women) and 109 MG patients (44 men and 65 women) from three University hospitals were included. We examined each patient for clinical features using electrophysiology tests, laboratory tests, and thymic pathology. The CCR2-64I and CCR5Delta32 polymorphisms were determined by the PCR-RFLP method. RESULTS: We detected no difference in the frequencies of CCR2-64I polymorphism between MG patients and healthy controls. All of the MG patients and the healthy controls were homozygous for the wild-type CCR5 genotype. The results of electrophysiological tests and thymic pathologies were not influenced by the type of CCR2-64I polymorphism. However, the anti-acetylcholine-receptor (AChR) antibody titer was higher in the CCR2 G/G genotype (13.34+/-12.71 nmol/L) than in the CCR2 A/A genotype (5.83+/-2.56 nmol/L). CONCLUSIONS: We found no evidence of an increased risk for MG associated with the CCR2-64I and CCR5Delta32 polymorphisms. However, the increased anti-AChR antibody titer in the patients with the CCR2 G/G genotype suggests that the CCR2 gene play a role in the pathophysiology of MG.ope

Clinical Heterogeneity in Korean Patients with Nemaline Myopathy

PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM. MATERIALS AND METHODS: Eight patients underwent analyses of clinical manifestations by a structured protocol. Diagnoses were established by a muscle biopsy. RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which exhibited mild gait disturbance as a first symptom. One patient had the adult onset type, which showed acute respiratory failure. Limb weakness was proximal-dominant occurred in six patients. Hyporeflexia was observed in most patients. Elongated faces and high arched palates and feet were also observed. On light microscopy, the nemaline bodies were observed in type 1 and 2 fibers. All patients showed type 1 predominance and atrophy. In the two cases in which ultrastructural studies were performed, typical nemaline rods and disorganized myofibrillar apparatus were detected. CONCLUSION: In conclusion, the eight Korean patients in this study with NM shared common clinical expressions such as proximal limb weakness, reduced deep tendon reflex, and dysmorphic features. This study, however, showed that clinical heterogeneity ranged from typical congenital, mildly affected childhood to the adult onset form with acute respiratory failure. The pathological findings in this study were in accordance with those of other previous reports.ope