Background: and Purpose Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are known to cause Charcot-Marie-Tooth disease (CMT). These mutations are very rare in most countries, but not in certain Mediterranean countries. The purpose of this study was to identify the clinical and neuroimaging characteristics of Korean CMT patients with GDAP1 mutations. Methods: Gene sequencing was applied to 1,143 families in whom CMT had been diagnosed from 2005 to 2020. PMP22 duplication was found in 344 families, and whole-exome sequencing was performed in 699 patients. Magnetic resonance imaging (MRI) were obtained using either a 1.5-T or 3.0-T MRI system. Results: We found ten patients from eight families with GDAP1 mutations: five with autosomal dominant (AD) CMT type 2K (three families with p.R120W and two families with p.Q218E) and three with autosomal recessive (AR) intermediate CMT type A (two families with homozygous p.H256R and one family with p.P111H and p.V219G mutations). The frequency was about 1.0% exclusive of the PMP22 duplication, which is similar to that in other Asian countries. There were clinical differences among AD GDAP1 patients according to mutation sites. Surprisingly, fat infiltrations evident in lower-limb MRI differed between AD and AR patients. The posterior-compartment muscles in the calf were affected early and predominantly in AD patients, whereas AR patients showed fat infiltration predominantly in the anterolateral-compartment muscles. Conclusions This is the first cohort report on Korean patients with GDAP1 mutations. The patients with AD and AR inheritance routes exhibited different clinical and neuroimaging features in the lower extremities. We believe that these results will help to expand the knowledge of the clinical, genetic, and neuroimaging features of CMT.

The Committee of Clinical Practice Guidelines of the Korean Diabetes Association (KDA) updated the previous clinical practice guidelines for Korean adults with diabetes and prediabetes and published the seventh edition in May 2021. We performed a comprehensive systematic review of recent clinical trials and evidence that could be applicable in real-world practice and suitable for the Korean population. The guideline is provided for all healthcare providers including physicians, diabetes experts, and certified diabetes educators across the country who manage patients with diabetes or the individuals at the risk of developing diabetes mellitus. The recommendations for screening diabetes and glucose-lowering agents have been revised and updated. New sections for continuous glucose monitoring, insulin pump use, and non-alcoholic fatty liver disease in patients with diabetes mellitus have been added. The KDA recommends active vaccination for coronavirus disease 2019 in patients with diabetes during the pandemic. An abridgement that contains practical information for patient education and systematic management in the clinic was published separately.

The Committee of Clinical Practice Guidelines of the Korean Diabetes Association (KDA) updated the previous clinical practice guidelines for Korean adults with diabetes and prediabetes and published the seventh edition in May 2021. We performed a comprehensive systematic review of recent clinical trials and evidence that could be applicable in real-world practice and suitable for the Korean population. The guideline is provided for all healthcare providers including physicians, diabetes experts, and certified diabetes educators across the country who manage patients with diabetes or the individuals at the risk of developing diabetes mellitus. The recommendations for screening diabetes and glucose-lowering agents have been revised and updated. New sections for continuous glucose monitoring, insulin pump use, and non-alcoholic fatty liver disease in patients with diabetes mellitus have been added. The KDA recommends active vaccination for coronavirus disease 2019 in patients with diabetes during the pandemic. An abridgement that contains practical information for patient education and systematic management in the clinic was published separately.

BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic features. However, WES and subsequent capillary sequencing identified a pathogenic splicing-site mutation (c.1056+1G>A) in COL6A1, which was previously reported to be an underlying cause of Bethlem myopathy. After identification of the genetic cause of the disease, careful neurologic examination revealed subtle contracture of the interphalangeal joint in the affected members, which is a characteristic sign of Bethlem myopathy. Therefore, we revised the original diagnosis from LGMD to Bethlem myopathy. CONCLUSIONS: This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.
Ankle ; Capillaries ; Contracture ; Diagnosis* ; Exome* ; Humans ; Joints ; Korea ; Molecular Biology* ; Muscular Diseases* ; Muscular Dystrophies ; Muscular Dystrophies, Limb-Girdle ; Neurologic Examination

BACKGROUND/AIMS: The aims of this study were to characterize the treatment response to entecavir and to examine factors affecting that response. METHODS: A total of 77 nucleoside-naive patients with chronic hepatitis B who had received entecavir (0.5 mg daily) for at least 48 weeks were consecutively enrolled between March 2007 and March 2011. The rates of virological response (hepatitis B virus [HBV] DNA < 116 copies/mL), biochemical response (alanine aminotransferase < or = upper limit of normal), hepatitis B e antigen (HBeAg) loss, and seroconversion were retrospectively analyzed. RESULTS: The cumulative rates of virological response at 12, 24, 48, 96, and 144 weeks were 59.7%, 82%, 88.3%, 89.6%, and 93.1%, respectively; biochemical response rates were 51.9%, 74%, 84.4%, 94.8%, and 98.3%, respectively; HBeAg loss rates were 10.5%, 18.4%, 28.9%, 36.8%, and 47.4%, respectively; and HBeAg seroconversion rates were 7.9%, 18.4%, 21.1%, 28.9%, and 39.5%, respectively. In multivariate analysis, independent predictors associated with HBV DNA polymerase chain reaction (PCR) negativity were the absence of HBeAg at baseline (p = 0.006) and early virological response (HBV DNA < 2,000 copies/mL after 12 weeks of therapy; p = 0.027). In univariate analysis, early virological response was an independent factor predicting HBeAg loss (p = 0.001). CONCLUSIONS: Entecavir induced excellent biochemical and virological responses in nucleoside-naive patients with chronic hepatitis B. Early virological response was an independent factor predicting HBV PCR negativity and HBeAg loss, and can be used to predict long-term treatment response to entecavir.
Decision Support Techniques ; DNA ; Guanine ; Hepatitis B ; Hepatitis B e Antigens ; Hepatitis B, Chronic ; Hepatitis, Chronic ; Herpesvirus 1, Cercopithecine ; Humans ; Multivariate Analysis ; Polymerase Chain Reaction ; Retrospective Studies

The aim of the current Part II of Stroke Statistics in Korea is to summarize nationally representative data on public awareness, pre-hospital delay, thrombolysis, and quality of acute stroke care in a single document. The public's knowledge of stroke definition, risk factors, warning signs, and act on stroke generally remains low. According to studies using open-ended questions, the correct definition of stroke was recognized in less than 50%, hypertension as a stroke risk factor in less than 50%, and other well-defined risk factors in less than 20%. Among stroke warning signs, sudden paresis or numbness was best appreciated, with recognition rates ranging in 36.9-73.7%, but other warning signs including speech disturbance were underappreciated. In addition, less than one third of subjects in a representative population survey were aware of thrombolysis and had knowledge of the appropriate act on stroke, calling emergency medical services (EMS). Despite EMS being an essential element in the stroke chain of survival and outcome improvement, EMS protocols for field stroke diagnosis and prehospital notification for potential stroke patients are not well established. According to the Assessment for Quality of Acute Stroke Care, the median onset-to-door time for patients arriving at the emergency room was 4 hours (mean, 17.3 hours) in 2010, which was not reduced compared to 2005. In contrast, the median door-to-needle time for intravenous tissue plasminogen activator (IV-TPA) treatment was 55.5 minutes (mean, 79.5 minutes) in 2010, shorter than the median time of 60.0 minutes (mean, 102.8 minutes) in 2008. Of patients with acute ischemic stroke, 7.9% were treated with IV-TPA in 2010, an increase from the 4.6% in 2005. Particularly, IV-TPA use for eligible patients substantially increased, from 21.7% in 2005 to 74.0% in 2010. The proportion of hospitals equipped with a stroke unit has increased from 1.1% in 2005 to 19.4% in 2010. Performance, as measured by quality indicators, has steadily improved since 2005, and the performance rates for most indicators were greater than 90% in 2010 except for early rehabilitation consideration (89.4%) and IV-TPA use for eligible patients (74.0%). In summary, the current report indicates a substantial improvement in in-hospital acute stroke care, but also emphasizes the need for enhancing public awareness and integrating the prehospital EMS system into acute stroke management. This report would be a valuable resource for understanding the current status and implementing initiatives to further improve public awareness of stroke and acute stroke care in Korea.
Emergencies ; Emergency Medical Services ; Humans ; Hypertension ; Hypesthesia ; Korea ; Paresis ; Quality Indicators, Health Care ; Risk Factors ; Stroke ; Tissue Plasminogen Activator

The aim of the Part I of Stroke Statistics in Korea is to summarize nationally representative data of the epidemiology and risk factors of stroke in a single document. Every year, approximately 105,000 people experience a new or recurrent stroke and more than 26,000 die of stroke, which indicates that every 5 minutes stroke attacks someone and every 20 minutes stroke kills someone in Korea. Stroke accounts for roughly 1 of every 10 deaths. The estimated stroke prevalence is about 795,000 in people aged > or =30 years. The nationwide total cost for stroke care was 3,737 billion Korean won (US$3.3 billion) in 2005. Fortunately, the annual stroke mortality rate decreased substantially by 28.3% during the first decade of the 21th century (53.2/100,000 in 2010). Among OECD countries, Korea had the lowest in-hospital 30-day case-fatality rate for ischemic stroke and ranked third lowest for hemorrhagic stroke in 2009. The proportion of ischemic stroke has steadily increased and accounted for 76% of all strokes in 2009. According to hospital registry studies, the 90-day mortality rate was 3-7% for ischemic stroke and 17% for intracerebral hemorrhage. For risk factors, among Korean adults > or =30 years of age, one in 3-4 has hypertension, one in 10 diabetes, and one in 7 hypercholesterolemia. One in 3 Korean adults > or =19 years of age is obese. Over the last 10 years, the prevalence of hypertension slightly decreased, but the prevalence of diabetes, hypercholesterolemia, and obesity increased. Smoking prevalence in men has decreased, but is still as high as 48%. This report could be a valuable resource for establishing health care policy and guiding future research directions.
Adult ; Aged ; Cerebral Hemorrhage ; Delivery of Health Care ; Humans ; Hypercholesterolemia ; Hypertension ; Korea ; Male ; Obesity ; Prevalence ; Risk Factors ; Smoke ; Smoking ; Stroke

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
Action Potentials ; Axons ; Charcot-Marie-Tooth Disease ; Cohort Studies ; Humans ; Muscles ; Neural Conduction

The publisher wishes to apologize for incorrectly displaying the author (Seok Beom Gwon) name. We correct his name from Seok Beom Gwon to Seok Beom Kwon.

Diffuse gastroesophageal leiomyomatosis is a rare, benign neoplastic condition characterized by thickening of the esophageal wall as a result ofaberrant smooth muscle proliferation. Gastroesophageal leiomyomatosis may occur in isolation or as a familial disorder and has been associated with other conditions, such as Alport syndrome. Alport syndrome is a hereditary disorder of basement membrane type IV collagen, characterized by progressive nephritis, sensorineural deafness and ocular abnormalities. In this article, we present an interesting case of gastroesophageal leiomyomatosis occurring in a single family in whichthe mother and her son had Alport syndrome. This case is the first report in Korea that gastroesophageal leiomyomatosis is associated with two generations of Alport syndrome.
Basement Membrane ; Collagen Type IV ; Deafness ; Family Characteristics ; Humans ; Korea ; Leiomyomatosis ; Mothers ; Muscle, Smooth ; Nephritis ; Nephritis, Hereditary