저산소뇌증 환자에서 혈청 Neuron-Specific Enolase 수치와 예후

Background: Hypoxic brain damage is a critical situation and needs emergent treatment. Even with a successful treatment of the underlying causative disease, the extent of injury to brain parenchyma is often severe and irreversible. Clinical outcome of hypoxic brain damage is determined by the degree of diffuse brain damage. Although neuroimaing and electrophysiological study help to predict the clinical outcome, it is often difficult to perform these test because of unstable vital sign and technical problem. Therefore, reliable and feasible methods for early prediction of prognosis need to be established. Methods: This study included 22 patients with hypoxic brain damage after resuscitation. Serum Neuron-Specific Enolase (NSE) level within 24 hours after resuscitation was measured by enzyme immunoassay. Clinical outcome was assessed by the use of Glasgow Outcome Scale (GOS) at 6 months after onset. Results: In 22 patients, 18 (81.8%) patients had poor outcome, and 4 (19.2%) patients showed favorable recovery. A serum NSE concentration above 20 ng/mL was found to be a predictor of poor outcome with a high positive predictive value (93.8%). Concentrations more than 22 ng/mL predicted poor outcome with a high specificity (100%) and a positive predictive value of 100%. Conclusion: In patients with hypoxic brain damage, serum NSE concentrations of >22 ng/mL was predictive of poor clinical outcome with a high specificity. We suggest that serum NSE may be a feasible and valuable biochemical marker for prediction of clinical outcome in hypoxic brain damageope

봉입체근육염

Inclusion body myositis (IBM) is the most common idiopathic inflammatory myositis in patients over the age of 50 years. Prevalence of IBM varies among countries and ethnic groups. Etiology and pathogenesis of IBM is still unknown. It may be primary degenerative myopathy or autoimmune inflammatory myopathy or both. Asymmetrical weakness of the quadriceps and flexor forearm muscles are the clinical key of IBM. This review covers clinical presentation, pathogenesis, diagnosis and treatment of IBM.ope

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LGMD1D patients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findings in one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patients showed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LGMD1D, including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).ope

LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.ope

Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy

Bethlem myopathy is one of the collagens VI-related muscular dystrophies caused by mutations in the collagen VI genes. The study was designed to analyze the gene expression profiles in the skeletal muscle of patients with Bethlem myopathy. Six skeletal muscle samples from 3 patients with Bethlem myopathy and 3 control subjects were analyzed by RNA-sequencing. 187 transcripts were significantly differentially expressed, with 157 upregulated and 30 downregulated transcripts in the Bethlem group. Particularly, 1 (microRNA-133b) was considerably upregulated, and 4 long intergenic non-protein coding RNAs, LINC01854, MBNL1-AS1, LINC02609, and LOC728975, were significantly downregulated. We categorized differentially expressed gene using Gene Ontology and showed that Bethlem myopathy is strongly associated with the organization of extracellular matrix (ECM). Kyoto Encyclopedia of Genes and Genomes pathway enrichment reflected themes with significant enrichment of the ECM-receptor interaction (hsa04512), complement and coagulation cascades (hsa04610), and focal adhesion (hsa04510). We confirmed that Bethlem myopathy is strongly associated with the organization of ECM and the wound healing process. Our results demonstrate transcriptome profiling of Bethlem myopathy, and provide new insights into the path mechanism of Bethlem myopathy associated with non-protein coding RNAs. © 2023 Lippincott Williams and Wilkins. All rights reserved.ope

Incidence, Disability, and Mortality in Patients With Guillain-Barré Syndrome in Korea: A Nationwide Population-Based Study

Background and purpose: This study aimed to identify the epidemiological features of Guillain-Barré syndrome (GBS) in the Korean population. Methods: Patients with GBS were defined as those who were hospitalized with a primary diagnostic code of G61.0 on the Korean Classification of Disease in a department of neurology, rehabilitation medicine, or pediatrics. We evaluated the incidence and prevalence of GBS as well as physical disability, mortality, and cause of death in patients with GBS from 2002 to 2018 in the Korean population using the Korean National Health Insurance Service database. Results: We identified 11,146 patients with GBS. The ratio of males to females was 1.48. The age-adjusted incidence rate per 100,000 persons increased steadily from 0.84 in 2002 to 1.68 in 2018, as did the age-adjusted prevalence rate per 100,000 persons, from 0.77 to 15.62. The incidence and prevalence of GBS increased with age, peaking at 70-79 years. Among 10,114 patients without physical disability at the time of GBS being diagnosed, 502 (5.0%) patients had moderate disability and 526 (5.2%) had severe disability by the end of the study period. A total of 1,221 (11.0%) patients with GBS died during the mean follow-up period of 17 years (2002-2019). There were 144 (1.3%) in-hospital deaths. Conclusions: This was the first nationwide epidemiological study of patients with GBS covering the entire population including patients of all ages in the Republic of Korea. We have revealed the seasonality of admissions, disability, and long-term mortality rates in patients with GBS.ope

A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3(TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.ope

Langerhans Cell Histiocytosis of the Thoracic Spine in an Adult Presenting as Thoracic Radiculopathy

A 35-year-old man complained of right truncal pain around T7-8 dermatomal distribution and on examination, T7-8 spinal tenderness was observed. Magnetic resonance imaging showed osteolytic mass in T8 vertebral body without structural lesions involving spinal nerve roots. Dermatomal somatosensory evoked potentials (DSEP) were helpful in diagnosis with thoracic radiculopathy. Finally, Langerhans cell histiocytosis was confirmed in bone biopsy. Thoracic radiculopathy can be caused by various etiologies including bone tumor and DSEP is useful supplementary tool for diagnosing thoracic radiculopathyope

Differences between the measured and calculated free serum phenytoin concentrations in epileptic patients

PURPOSE: The pharmacokinetics of phenytoin is complicated by genetic and environmental differences. It is, therefore, important to monitor the serum concentrations in patients who receive phenytoin. Because most of the phenytoin in serum is bound to proteins, the level of serum albumin influences the amount of free phenytoin. MATERIALS AND METHODS: We compared the measured and calculated free phenytoin levels in epileptic patients who were taking phenytoin monotherapy, using the Sheiner-Tozer equation. A total of 49 patients (30 men and 19 women; age range, 15 - 87 years) were included in the study and their trough serum phenytoin and albumin concentrations were analyzed. RESULTS: The linear correlation between free and total phenytoin concentrations was moderate (r = 0.822, p or = 20%) than observed in the normoalbuminemic (> or = 3.5 g/dL) group. CONCLUSION: In hypoalbuminemic patients, the measurement of free phenytoin level is necessary to properly evaluate the phenytoin level than that calculated from total phenytoin level.ope

Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication

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