Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis

Purpose: AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. Materials and methods: We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. Results: The median age at examination was 73 (interquartile range: 64-76) years. The median age at onset of cutis laxa was 20 (interquartile range: 15-30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5-70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level. Conclusion: Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.ope

Ultrasonography Findings in Hereditary Neuropathy with Liability to Pressure Palsies Due to Single-Nucleotide Substitution

ART002632253ope

Clinical Scales for the Evaluation of Myopathy Patients

With the rapid increase in the number of clinical trials in myopathy over the past decade, there is an increasing need for clinical scales to reflect patient’s clinical status. This article outlines the process of identifying possible measures. Detailed consideration has been given to key measures of muscle strength, function, and disability. As well as the usual assessment of the validity and reliability of the measures, three key characteristics were identified as necessary to the assessment of clinical scales used in health care: 1) the type of scale; 2) the clinical significance of the property being measured; and 3) the mathematical properties of the data. Consideration of such aspects facilitates the choice of clinical scales and the interpretation of data.ope

Vehicle Scheduling Model for Transshipment Container Cargo between Container Terminals

ITT refers to the transshipment of cargo between container terminals in the port. In Busan New Port, the volume of transshipment cargo has increased significantly, accounting for 60%. Recently, Korean government is aware of the importance of ITT and it is preparing for ITT implementation. Therefore, this paper presents the current status and implementation problems of domestic ITT and suggests a model that can reduce the congestion of vehicles waiting time among the transshipment between container terminals. By comparison of the vehicle booking system which works for only one terminal, the model of this paper coniders multiple inbound and outbound terminals. The experimental data set was created by the field data and the model was verified by comparing the existing field results and the model results.1. 서 론 1 1.1 연구의 배경 및 목적 1 1.2 관련문헌 연구 3 1.2.1 ITT 시스템 관련 연구 4 1.2.2 수리 모형 관련 연구 4 1.2.3 반출입 예약제 관련 연구 5 1.3 연구 방법 5 2. ITT 시스템 및 작업체계 7 2.1 ITT 시스템 7 2.1.1 환적 7 2.1.2 자부두 환적과 타부두 환적 8 2.2 ITT 작업 체계 9 2.2.1 타부두 환적 프로세스 9 2.2.2 ITT 셔틀 Pooling 시스템 11 2.3 현행 ITT의 문제점 13 2.3.1 시설 문제 13 2.3.2 비용 문제 14 2.3.3 책임 문제 14 2.3.4 시스템 문제 14 2.3.5 운영상 문제 15 2.4 타임테이블 할당을 통한 문제 해결 방안 16 3. ITT 타임테이블 할당 문제 및 모형화 18 3.1 문제 설정 및 가정 18 3.2 모형의 수립 20 3.2.1 두 터미널에 대한 환적화물 반출반입 모형 20 3.2.2 다수 터미널에 대한 환적화물 반출반입 모형 23 4. ITT 타임테이블 할당 모형의 적용 및 분석 27 4.1 적용 데이터 산정 27 4.2 타임테이블 할당 및 분석 32 5. 결론 39 참고문헌 40Maste

Treatment of Duchenne Muscular Dystrophy: A Comprehensive Review

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder due to the loss of dystrophin in muscle fiber. The deficiency of dystrophin produces severe progressive muscle degeneration which leads to progressive muscle weakness. Affected patients usually become unambulatory in their early teens, and suffer a respiratory failure before 20 years of age. In an attempt to improve quality of life and extend life span of DMD patients, various treatments have been challenged; corticosteroid trial, rehabilitation, cardiac and pulmonary managements, orthopedic interventions, and nutritional support. However, only corticosteroid therapy and non-invasive ventilation have shown a salutary effect on the clinical course of DMD. Recently, a better understanding of the DMD pathophysiology has provided the scientific basis for new treatment modalities including cell and molecular therapy. Although previous clinical trials have demonstrated the limitation and possibility of new therapies, antisense-mediated exon skipping technology is now emerging as a promising approach to restore dystrophin expression. This article summarizes the current challenges and recommendations of treatment approaches in DMD patients.ope

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.ope

Validation of the Individualized Neuromuscular Quality of Life Questionnaire in Korean Patients With Genetic Neuromuscular Diseases

Background and purpose: The Individualized Neuromuscular Quality of Life questionnaire (INQoL) is a widely used measure of the quality of life in patients with neuromuscular diseases. The purpose of this study was to translate and validate the Korean version of INQoL in Korean patients with neuromuscular diseases. Methods: We translated the original INQoL version into Korean while applying appropriate language adaptations. The internal consistency, known-group validity, and test-retest reliability were also assessed. Construct validity was measured using the modified Rankin Scale (mRS) score and the manual muscle testing (MMT)-sum score based on the Medical Research Council scale, and concurrent validity was measured using the 36-item Short Form Survey (SF-36) questionnaire. Results: This study enrolled 193 patients. The coefficients for internal consistency (Cronbach's α=0.805 to 0.987) and test-retest reliability (Spearman's ρ=0.453 to 0.886) were adequately high for all subscales except in the 'treatment effects' dimension. INQoL subscales other than those for locking, droopy eyelids, double vision, and swallowing difficulties were significantly associated with their relevant SF-36 domains (Spearman's ρ=-0.274 to -0.833). Functional status and muscle strength were most strongly associated with independence (Spearman's ρ=0.753 and p<0.001 for mRS score, Spearman's ρ=-0.741 and p<0.001 for MMT-sum score). Conclusions: The Korean INQoL is a reliable and validated measurement tool for Korean patients with neuromuscular diseases.ope

First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

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Clinical and Pathological Findings of Korean Patients with Selenoprotein N-Related Myopathy

Objective This study investigated the clinical, pathological, and genetic characteristics of 5 Korean patients with selenoprotein N-related myopathy (SELENON-RM). Methods Five unrelated patients were genetically diagnosed with SELENON-RM by whole-exome or targeted gene panel sequencing. We then analyzed their clinical, pathological, and genetic spectra. Results The median age at symptom onset was 3 years (interquartile range, 2-10 years). The most common clinical finding was proximal muscle weakness in all 5 patients, followed by spinal scoliosis and respiratory distress in 4 patients and delayed motor development in 2 patients. Other uncommon clinical findings were winged scapula in one patient and cardiomegaly in one patient. Magnetic resonance imaging of muscles revealed that fatty replacement was predominant in the paraspinal muscles, adductors, semimembranosus, semitendinosus, long head of the biceps femoris, and medial gastrocnemius. Muscle biopsies in 2 patients showed type 1 predominance and multiple eccentric cores within the fibers. We identified 5 pathogenic variants of SELENON. The most common variant was the c.1574T > G variant in 5 alleles (50%) in 4 patients (80%). Conclusion In the first report of SELENON-RM in Korea, we identified 5 SELENON-RM patients and expanded existing knowledge on the clinical and genetic spectrum of these patients.ope

Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy

PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE myopathy varies, and it is not clear how the same GNE gene mutations can result in different phenotypes. Here, we present clinical, pathological and genetic characteristics of twenty-one Korean patients with GNE myopathy. MATERIALS AND METHODS: Twenty-one GNE myopathy patients were included in this study, conducted from 2004 to 2011. Based on medical records, patients' gender, onset age, family history, clinical history, serum creatine kinase (CK) level, neurologic examination, findings of muscle biopsy, muscle imaging findings and electrophysiologic features were extensively reviewed. Mutation of the GNE gene (9p13.3) was confirmed by DNA direct sequencing analysis in all patients. RESULTS: The mean onset age was 23.8±8.8 years (mean±SD). Patient serum CK levels were slightly to moderately elevated, ranging from 41 to 2610 IU. Among the patients, twelve patients were female and nine patients were male. Except for eight patients, all of the patients presented initially with only distal muscle weakness in the lower extremities. The most common mutation was V572L, followed by C13S. CONCLUSION: The clinical manifestations of our patients with GNE mutations varied. Among twenty-one patients, thirteen patients showed the typical GNE myopathy phenotype. There was no relationship between clinical features and site of mutation. Therefore, we suggest that neither homozygous nor compound heterozygous models are correlated with disease phenotype or disease severity.ope