BACKGROUND: From May to July 2015, the Republic of Korea experienced the largest outbreak of Middle East respiratory syndrome (MERS) outside the Arabian Peninsula. A total of 186 patients, including 36 deaths, had been diagnosed with MERS-coronavirus (MERS-CoV) infection as of September 30th, 2015. MATERIALS AND METHODS: We obtained information of patients who were confirmed to have MERS-CoV infection. MERS-CoV infection was diagnosed using real-time reverse-transcriptase polymerase chain reaction assay. RESULTS: The median age of the patients was 55 years (range, 16 to 86). A total of 55.4% of the patients had one or more coexisting medical conditions. The most common symptom was fever (95.2%). At admission, leukopenia (42.6%), thrombocytopenia (46.6%), and elevation of aspartate aminotransferase (42.7%) were observed. Pneumonia was detected in 68.3% of patients at admission and developed in 80.8% during the disease course. Antiviral agents were used for 74.7% of patients. Mechanical ventilation, extracorporeal membrane oxygenation, and convalescent serum were employed for 24.5%, 7.1%, and 3.8% of patients, respectively. Older age, presence of coexisting medical conditions including diabetes or chronic lung disease, presence of dyspnea, hypotension, and leukocytosis at admission, and the use of mechanical ventilation were revealed to be independent predictors of death. CONCLUSION: The clinical features of MERS-CoV infection in the Republic of Korea were similar to those of previous outbreaks in the Middle East. However, the overall mortality rate (20.4%) was lower than that in previous reports. Enhanced surveillance and active management of patients during the outbreak may have resulted in improved outcomes.
Antiviral Agents ; Aspartate Aminotransferases ; Coronavirus Infections* ; Disease Outbreaks ; Dyspnea ; Extracorporeal Membrane Oxygenation ; Fever ; Humans ; Hypotension ; Leukocytosis ; Leukopenia ; Lung Diseases ; Middle East Respiratory Syndrome Coronavirus ; Middle East* ; Mortality ; Pneumonia ; Polymerase Chain Reaction ; Republic of Korea* ; Respiration, Artificial ; Thrombocytopenia

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confirmed cases in Korea. We report the clinical and genetic findings of Korean siblings who presented with limb and truncal ataxia, oculomotor apraxia, choreoathetosis, and telangiectasias of the eyes. Sequence analysis of the ataxia-telangiectasia mutated (ATM) gene revealed a known missense mutation (c.8546G>C; p.Arg2849Pro) and a novel intronic variant of intron 17 (c.2639-19_2639-7del13). Reverse-transcription PCR and sequencing analysis revealed that the c.2639-19_2639-7del13 variant causes a splicing aberration that potentiates skipping exon 18. Because A-T is quite rare in Korea, the diagnosis of A-T in Korean patients can be delayed. We recommend that a diagnosis of A-T should be suspected in Korean patients exhibiting the clinical features of A-T.
Asian Continental Ancestry Group/*genetics ; Ataxia Telangiectasia/diagnosis/*genetics ; Ataxia Telangiectasia Mutated Proteins/*genetics ; Child ; Female ; Heterozygote ; Humans ; Introns ; Male ; Mutation, Missense ; Pedigree ; Republic of Korea ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Siblings

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confirmed cases in Korea. We report the clinical and genetic findings of Korean siblings who presented with limb and truncal ataxia, oculomotor apraxia, choreoathetosis, and telangiectasias of the eyes. Sequence analysis of the ataxia-telangiectasia mutated (ATM) gene revealed a known missense mutation (c.8546G>C; p.Arg2849Pro) and a novel intronic variant of intron 17 (c.2639-19_2639-7del13). Reverse-transcription PCR and sequencing analysis revealed that the c.2639-19_2639-7del13 variant causes a splicing aberration that potentiates skipping exon 18. Because A-T is quite rare in Korea, the diagnosis of A-T in Korean patients can be delayed. We recommend that a diagnosis of A-T should be suspected in Korean patients exhibiting the clinical features of A-T.
Asian Continental Ancestry Group/*genetics ; Ataxia Telangiectasia/diagnosis/*genetics ; Ataxia Telangiectasia Mutated Proteins/*genetics ; Child ; Female ; Heterozygote ; Humans ; Introns ; Male ; Mutation, Missense ; Pedigree ; Republic of Korea ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Siblings

PURPOSE: The purpose of this study is to analyze the clinical and radiographic results of treatment of unstable pertrochanteric hip fractures in which the fracture line is extended distally or the width of the canal is wide using a long intramedullary nail. MATERIALS AND METHODS: From January 2005 to January 2010, we conducted an analysis of 20 cases of unstable pertrochanteric hip fractures (over AO/OTA 31 A2.2) treated using a long intramedullary nailing and followed up for more than 12 months. Using postoperative and last follow-up radiographs, we measured TAD, Cleveland index, neck-shaft angle, sliding length of the lag screw, and union time. Clinically, we measured the operation time, the amount of transfusion, and Parker and Palmer's mobility score. RESULTS: The mean bony union time was 16.4 weeks(10-21 weeks). The mean sliding length of the lag screw was 4.3 mm(1-10 mm) and the mean varus angulation after surgery was 5.1degrees(3-8degrees). The mean operative time was 118 min(60-140 min), and the mean transfusion amount was 2.0 pint(0-4 pint). According to Parker and Palmer's mobility score, mean preoperative score was 7.5 points and mean postoperative score at last follow-up was 6.9 points. CONCLUSION: In treatment of unstable pertrochanteric hip fractures, when the fracture line was extended to below the lesser trochanteric level or the medullary canal width was wide, use of a long intramedullary nail showed excellent clinical and radiologic results and can be regarded as a good treatment option.
Femur ; Follow-Up Studies ; Fracture Fixation, Intramedullary ; Hip Fractures ; Nails ; Operative Time

OBJECTIVE: To describe the clinical characteristics, electrodiagnostic, and imaging findings of Hirayama disease (HD), late onset monomelic amyotrophy (LMA), and brachial amyotrophic diplegia (BAD). METHOD: A retrospective analysis of the medical records, electrodiagnostic, and imaging findings of 12 patients (4 HD, 2 LMA, 6 BAD) was done. For patients whose last clinic follow-up exceeded 6 months a telephone survey was done to see if there were any symptom changes. RESULTS: The clinical, electrodiagnostic, and imaging findings of the HD and BAD patients were similar to previous studies. Except for a later onset, age disease duration was too short to distinguish LMA from HD or other motor neuron diseases. One patient in the BAD group progressed to amyotrophic lateral sclerosis (ALS) and another died due to undetermined respiratory failure. These two patients showed abnormalities in their lower extremities, thoracic paraspinal, and craniocervical muscles on needle electromyography. Except for another patient, none of the other three patients showed abnormalities in their lower extremities, thoracic paraspinals, or craniocervical muscles on needle electromyography. CONCLUSION: HD and BAD can be considered as separate disease entities. However, a longer follow-up period than previously recommended is necessary to differentiate BAD from ALS. Follow-up period was too short to determine whether LMA can also be considered as a separate disease entity.
Amyotrophic Lateral Sclerosis ; Electromyography ; Follow-Up Studies ; Humans ; Lower Extremity ; Medical Records ; Motor Neuron Disease ; Motor Neurons ; Muscles ; Needles ; Respiratory Insufficiency ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood ; Telephone

OBJECTIVE: To investigate the prevalence and clinical features of diffuse idiopathic skeletal hyperostosis (DISH) in patients with dorsal back pain. METHOD: A total of 229 patients (119 men and 110 women) with dorsal back pain were included. Medical records including age, sex, chief complaints, medical history, physical findings, laboratory data, and musculoskeletal radiographs were reviewed retrospectively. RESULTS: Twenty-seven (11.8%, by Resnick's criteria) and thirty-eight (16.6%, by Julkunen's criteria) of the 229 patients were diagnosed with DISH by thoracic spine radiographs. A significant increase of risk with age was observed (Resnick's criteria: odds ratio 1.10, 95% CI 1.05~1.16, p< 0.001, Julkunen's criteria: odds ratio 1.08, 95% CI 1.04~1.12, p<0.001). Male sex (Resnick's criteria: odds ratio 2.65, 95% CI 1.01~6.95, p=0.048, Julkunen's criteria: odds ratio 2.87, 95% CI 1.27~6.59, p=0.011) and inflammatory pain (Resnick's criteria: odds ratio 7.76, 95% CI 2.69~22.33, p<0.001, Julkunen's criteria: odds ratio 3.84, 95% CI 1.55~9.47, p=0.004) showed higher risk for development of DISH. Mean body mass index of patients with DISH were higher in all age groups, and they showed higher prevalence of DM and hyperlipidemia than general population. CONCLUSION: Patients with dorsal back pain showed higher prevalence of DISH than previous results with random samples. Aging, male sex and inflammatory pain might be a risk factor for development of DISH. Also, obesity, DM and hyperlipidemia might be strongly related with DISH.
Aging ; Back Pain ; Body Mass Index ; Humans ; Hyperlipidemias ; Hyperostosis, Diffuse Idiopathic Skeletal ; Male ; Medical Records ; Obesity ; Odds Ratio ; Prevalence ; Risk Factors ; Spine

In this case study, we investigated the effects of robot-assisted gait training on the plasticity of motor system in a stroke patient using functional MRI. A patient who suffered from the left hemiparesis following the right MCA infarction performed gait training with a robot-assisted gait orthosis. Before and after gait training, motor performances were assessed and functional MRIs were acquired with motor activation task of affected lower limb. After gait training with a robot-assisted orthosis, the patient's motor performances were improved and cortical activities were changed. Activation in the ipsilesional primary sensorimotor cortex was increased and cortical reorganization was induced in a way that nearby regions were recruited for the movement of affected lower limb. The results of this study showed that gait training with a robot-assisted orthosis induced cortical reorganization of the motor network that resulted in enhancement of motor performance of the lower limb.

OBJECTIVE: Spinal epidural hematoma (SEDH) and spinal subdural hematoma (SSDH) are rare diseases and they may have various causes such as trauma, lumbar puncture, anticoagulant therapy, tumor, blood dyscrasia and vascular malformation. In general, SEDH and SSDH are regarded as surgical emergency. We reviewed our cases with patients with SEDH or SSDH. They were surgically treated or conservatively treated. We examined the relationship between the surgical timing and the neurological outcome. METHODS: Twelve patients (8 cases for SEDH, 4 cases for SSDH) were included in our study. There were seven male and five female patients (mean age: 50.2 yrs, ranged from 18 to 87 years). Ten patients were surgically treated (7 cases for SEDH, 3 cases for SSDH) and two patients were conservatively treated (1 case for SEDH, 1 case for SSDH). We checked preoperative Frankel grade, time interval between onset of symptom and operation and post-operative neurologic change of each case. We investigated relationship between surgical timing and neurological outcome and also relationship between pre-operative Frankel grade and post-operative outcome. RESULTS: In seven cases (70%) of operated cases, there were postoperative improvements in clinical symptoms. Two cases had time interval within 6 hours from onset of symptoms to operations and their neurologic deficits were not improved. There were 2 cases with time interval of more than 6 hours and within 12 hours. And there were 6 cases with time interval over 12 hours. Seven of eight cases with time interval over 6 hours were improved after surgical treatments. CONCLUSION: There are various factors which may affect post-operative neurologic prognosis. Surgical timing is generally regarded as one of the most critical factors. However, in our study, preoperative neurologic status of patients functioned as the most important factor in clinical outcomes. We thought that the initial neurologic status of patient, as well as the surgical timing, may predict the prognosis.
Emergencies ; Female ; Hematoma, Epidural, Spinal ; Hematoma, Subdural ; Hematoma, Subdural, Spinal ; Humans ; Male ; Neurologic Manifestations ; Prognosis ; Rare Diseases ; Spinal Fractures ; Spinal Puncture ; Vascular Malformations

BACKGROUND AND PURPOSE: The National Institutes of Health Stroke Scale (NIHSS) score is known to be effective in predicting the likelihood of recovery after stroke. However, the baseline NIHSS score predicts long-term outcomes rather crudely because early changes in stroke scores may influence the stroke outcomes. Therefore, a precise prognostic algorithm or a cutoff point for predicting long-term outcomes based on data from serial NIHSS scores is needed. METHODS: We serially assessed 437 patients with acute symptomatic ischemic stroke within the middle cerebral artery territory who presented with nonlacunar stroke and were followed-up for at least 6 months after symptom onset. The NIHSS score was serially checked at 0, 1, 3, 7, and 14 days after admission. In all patients, the Barthel index (BI) and the modified Rankin Scale (mRS) score were checked, with a poor outcome defined as any of the following endpoints: death, modified mRS score of >3, or BI of <60. RESULTS: A marked neurological improvement or worsening (i.e., a change in the NIHSS score of at least 4) was seen in 13.5% or 5.5% of the patients, respectively, during the first 7 days after admission. About 25% of the 437 patients had poor long-term outcomes. Analysis of receiver operating characteristic curves showed that the NIHSS score at day 7 after admission was better for predicting poor long-term outcomes than was the baseline score (P=0.003). In addition, we analyzed the cutoff point of the 7th-day NIHSS score for predicting a poor outcome at 6 months after symptom onset. An NIHSS score of at least 6 at day 7 after admission predicted poor long-term outcomes with a sensitivity of 84% [95% confidence interval (CI), 76-90%], a specificity of 92% (95% CI, 88-94%), and positive and negative predictive values of 77% and 95%, respectively. A logistic regression analysis revealed that age, diffusion-weighted imaging lesion volume, stroke history, and 7th-day NIHSS score were independently associated with poor outcome. However, no score used in addition to the 7th-day NIHSS score improved the prediction of a poor outcome. CONCLUSIONS: An NIHSS score of at least 6 on day 7 after admission accurately forecasts a poor long-term outcome after stroke. Our data may be helpful in predicting the long-term prognosis as well as in making decisions regarding novel therapeutic applications in subacute-stroke trials.
Humans ; Logistic Models ; Middle Cerebral Artery* ; National Institutes of Health (U.S.) ; Prognosis ; ROC Curve ; Sensitivity and Specificity ; Stroke Volume ; Stroke*

BACKGROUND: In spite of the different pathogenesis and exclusive respect in the diagnosis of Alzheimer's disease (AD) and vascular dementia (VaD), recent epidemiological and pathological studies indicates that ischemic stroke have an important role in the pathogenesis of both VaD and AD. However, the association of ischemic stroke and AD on the cellular and molecular level is still unknown. We evaluated the effect of ischemic neuronal insult on the regulation of amyloid precursor protein (APP) processing. METHODS: We used an in vitro model of cerebral ischemia (oxygen-glucose deprivation, OGD) to evaluate the effect of ischemic insult on the amyloidogenic and non-amyloidogenic pathways using human neuroblastoma cell line, SH-SY5Y, and primary cultured cells of Tg2576 APP transgenic mouse. RESULTS: Ischemic insult significantly increased the beta amyloid (A beta) production in the primary cultured cells of Tg2576 APP transgenic mice (p<0.001). A disintegrin and metalloprotease 10 (ADAM 10), a candidate of alpha-secretase, was markedly increased in the early stage of ischemic insult (up to 2 hours of OGD, p<0.001; 4 hours of OGD, p<0.05), which was followed by the decreased level of ADAM 10 expression in a later stage (p<0.001). However, the protein and mRNA expression of beta-site cleavage enzyme (BACE) and BACE activity were not significantly different between the group of ischemic insult and control. By contrast, the activity of gamma-secretase was significantly increased after 4 hours of ischemic insult, as compared to controls. CONCLUSIONS: This study demonstrates that the ischemic neuronal insults increase the production of A beta via activation of the amyloidogenic pathway, which may link the role of ischemic insults to the pathogenesis of AD.
Alzheimer Disease ; Amyloid Precursor Protein Secretases ; Amyloid* ; Animals ; Brain Ischemia ; Cell Line ; Cells, Cultured ; Dementia, Vascular ; Diagnosis ; Humans ; Mice ; Mice, Transgenic ; Neuroblastoma ; Neurons* ; RNA, Messenger ; Stroke