Severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) is a positive-sense singlestranded RNA (+ssRNA) that causes coronavirus disease 2019 (COVID-19). The viral genome encodes twelve genes for viral replication and infection. The third open reading frame is the spike (S) gene that encodes for the spike glycoprotein interacting with specific cell surface receptor – angiotensin converting enzyme 2 (ACE2) – on the host cell membrane. Most recent studies identified a single point mutation in S gene. A single point mutation in S gene leading to an amino acid substitution at codon 614 from an aspartic acid 614 into glycine (D614G) resulted in greater infectivity compared to the wild type SARS-CoV2. We were interested in investigating the mutation region of S gene of SARS-CoV2 from Korean COVID-19 patients. New mutation sites were found in the critical receptor binding domain (RBD) of S gene, which is adjacent to the aforementioned D614G mutation residue. This specific sequence data demonstrated the active progression of SARS-CoV2 by mutations in the RBD of S gene.The sequence information of new mutations is critical to the development of recombinant SARS-CoV2 spike antigens, which may be required to improve and advance the strategy against a wide range of possible SARS-CoV2 mutations.

Norovirus causes acute gastroenteritis, occasional afebrile seizures, and rarely encephalitis. We describe a child with cerebellitis due to norovirus that has not been reported previously. A previously healthy 2-year-old girl with a recent history of acute gastroenteritis, who presented with acute cerebellar ataxia. She exhibited marked truncal ataxia, was barely able to walk, and was prone to sitting or lying down. Multiplex PCR using stool samples revealed norovirus (genogroup II) and magnetic resonance imaging showed increased T2 signal in the hemi-cerebellum. Norovirus may be a potential pathogenic cause of acute cerebellitis in children.
Ataxia ; Cerebellar Ataxia ; Child ; Child, Preschool* ; Deception ; Encephalitis ; Female* ; Gastroenteritis ; Humans ; Magnetic Resonance Imaging ; Multiplex Polymerase Chain Reaction ; Norovirus* ; Seizures

Anemia, Aplastic ; therapy ; Bone Marrow Transplantation ; statistics & numerical data ; China ; Cooperative Behavior ; Family ; Hematopoietic Stem Cell Transplantation ; statistics & numerical data ; Hemoglobinopathies ; therapy ; Hong Kong ; Humans ; Immunologic Deficiency Syndromes ; therapy ; Leukemia ; therapy ; Lymphoma ; therapy ; Malaysia ; Myelodysplastic Syndromes ; therapy ; Peripheral Blood Stem Cell Transplantation ; statistics & numerical data ; Philippines ; Singapore ; Thailand ; Tissue Donors ; statistics & numerical data ; Transplantation, Autologous ; statistics & numerical data ; Transplantation, Homologous ; statistics & numerical data

PURPOSE: Febrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict epilepsy in children with febrile seizures METHODS: The study comprised 249 children at the Korea University Ansan Hospital who presented with febrile seizures. The relationship between the subsequent occurrence of epilepsy and clinical factors including seizure and fever-related variables were analyzed by multivariate analysis. RESULTS: Twenty-five patients (10.0%) had additional afebrile seizures later and were diagnosed with epilepsy. The subsequent occurrence of epilepsy in patients with a history of febrile seizures was associated with a seizure frequency of more than 10 times during the first 2 years after seizure onset (P<0.001). Factors that were associated with subsequent occurrence of epilepsy were developmental delay (P<0.001), preterm birth (P=0.001), multiple seizures during a febrile seizure attack (P=0.005), and epileptiform discharges on electroencephalography (EEG) (P=0.008). Other factors such as the age at onset of first seizure, seizure duration, and family history of epilepsy were not associated with subsequent occurrence of epilepsy in this study. CONCLUSION: Febrile seizures are common and mostly benign. However, careful observation is needed, particularly for prediction of subsequent epileptic episodes in patients with frequent febrile seizures with known risk factors, such as developmental delay, history of preterm birth, several attacks during a febrile episode, and epileptiform discharges on EEG.
Child* ; Electroencephalography ; Epilepsy* ; Gyeonggi-do ; Humans ; Korea ; Multivariate Analysis ; Premature Birth ; Risk Factors ; Seizures ; Seizures, Febrile*

BACKGROUND: Tianeptine is an antidepressant drug which is used for treating depression. Interestingly, the tianeptine has shown antinociceptive effects within a variety of nociceptions. The aim of this study is to investigate the antiallodynic effects of tianeptine in neuropathic pain rats and also determine the involvements of serotonergic, alpha-2 adrenergic and adenosine receptors at the spinal level. METHODS: Neuropathic pain was induced by ligation of left lumbar at 5th and 6th spinal nerves in male Sprague-Dawley rats. PE-10 catheters were placed into the thoracolumbar subarachnoid space for drug injections. Mechanical allodynia was evaluated by measuring the withdrawal threshold to von Frey filament when applying on the plantar surface of rats. The effects of intrathecal tianeptine were observed at 15, 30, 60, 90, 120, 150, 180 minutes after delivery. Antagonists for serotonergic (dihydroergocristine), alpha-2 adrenergic (yohimbine) and adenosine (CGS 15943) receptors were intrathecally administered 10 minutes prior to tianeptine in order to evaluate the involvement of both receptors. RESULTS: Intrathecal tianeptine increased dose-dependently at the withdrawal threshold in the ligated paw. Pretreatment with intrathecal dihydroergocristine, yohimbine and CGS 15943 antagonized the antiallodynic effects of tianeptine. CONCLUSIONS: These results suggested that intrathecal tianeptine attenuates the spinal nerve ligation induced tactile allodynia. Serotonergic, alpha-2 adrenergic and adenosine receptors are all involved in the antiallodynic effects of tianeptine at the spinal level.
Adenosine ; Animals ; Catheters ; Depression ; Dihydroergocristine ; Humans ; Hyperalgesia ; Ligation ; Male ; Neuralgia* ; Nociception ; Rats* ; Rats, Sprague-Dawley ; Receptors, Adrenergic, alpha-2 ; Receptors, Purinergic P1 ; Spinal Nerves ; Subarachnoid Space ; Yohimbine

PURPOSE: Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to evaluate the benefits and yield of array-CGH in comparison with conventional karyotyping in pediatric neurology patients. MATERIALS AND METHODS: We included 87 patients from the pediatric neurology clinic with at least one of the following features: developmental delay, mental retardation, dysmorphic face, or epilepsy. DNA extracted from patients and controls was hybridized on the Roche NimbleGen 135K oligonucleotide array and compared with G-band karyotyping. The results were analyzed with findings reported in recent publications and internet databases. RESULTS: Chromosome imbalances, including 9 cases detected also by G-band karyotyping, were found in 28 patients (32.2%), and at least 19 of them seemed to be causally related to the abnormal phenotypes. Regarding each clinical symptom, 26.2% of 42 developmental delay patients, 44.4% of 18 mental retardation patients, 42.9% of 28 dysmorphic face patients, and 34.6% of 26 epilepsy patients showed abnormal array results. CONCLUSION: Although there were relatively small number of tests in patients with pediatric neurologic disease, this study demonstrated that array-CGH is a very useful tool for clinical diagnosis of unknown genome abnormalities performed in pediatric neurology clinics.
Adolescent ; Adult ; Child ; Child, Preschool ; Comparative Genomic Hybridization/*methods ; Female ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Nervous System Diseases/*genetics ; Young Adult

PURPOSE: The benign childhood epilepsy with centrotemporal spikes (BECTS), commonly affecting children between 3 and 13 years of age, is focal epilepsy with the presence of centrotemporal spikes on electroencephalography (EEG). The aim of our study was to assess the relationship between EEG findings and clinical prognosis in patients with BECTS. METHODS: From 2005 to 2010, patients with a diagnosis of BECTS with a follow-up period of over one year after the diagnosis were included in our study. We analyzed their first interictal EEG: frequency of interictal discharges and average voltage in each waking and sleep phase. In addition, multiple factors were reviewed from the medical records: the age at the time of seizure onset, frequency of seizures, use of antiepileptic drugs (AEDs), duration of AED therapy, age at the time of EEG normalization and age at the time of last seizure. RESULTS: Seventy-four patients were included in our study. Frequent interictal epileptiform discharges during sleep correlated with younger age of seizure onset (P=0.040), earlier onset of AED therapy (P=0.022), younger age at the time of seizure cessation (P=0.027), greater frequency of interictal epileptiform discharges during wakefulness (P=0.006), higher average voltage (P=0.001) and higher frequency of seizures after AED initiation (P=0.043). CONCLUSION: In BECTS patients, frequent interictal epileptiform discharges during sleep could be correlated with higher seizure frequency, even after cessation of AED. These findings would be helpful in predicting the prognosis of children with BECTS.
Anticonvulsants ; Child ; Electroencephalography ; Epilepsies, Partial ; Epilepsy ; Epilepsy, Rolandic ; Follow-Up Studies ; Humans ; Prognosis ; Seizures ; Wakefulness

BACKGROUND: We studied the association of sagittal abdominal diameter (SAD) and metabolic syndrome and insulin resistance in Korean adults. METHODS: This is a cross-sectional study by 190 patients who visited a Health Promotion Center of National University of Pusan from 11 November to 14 November, 2008. We analyzed the association of anthropometry (waist circumference, BMI, SAD), insulin resistance (homeostatic model assessment-insulin resistance, HOMA-IR), insulin sensitivity (quantitative insulin sensitivity check index, QUICKI), and plasma concentrations of glucose, insulin, total cholesterol, LDL, HDL, triglyceride. SAD was categorized into quartiles and assessed odds ratio of metabolic syndrome adjusted for age, sex, lifestyle factors. RESULTS: SAD showed significance correlation to HOMA-IR than BMI. Quartiles of SAD showed a positive trend with metabolic risk factors including abdominal obesity, high blood pressure, HOMA-IR and obesity but hypertriglyceridemia, low HDL-cholesterolemia did not show significant association. In men QUICKI was significantly high. A multivariate model, adjusted for age, sex, smoking status, physical activity, heavy drinking, HOMA-IR and QUICKI, revealed a progressively increased odds ratio of metabolic syndrome, 3rd quartile (odds ratio [OR]; 9.467; 95% confidence interval [CI], 3.225 to 27.789; P < 0.001) and 4th quartile (OR, 7.253; 95% CI, 2.437 to 21.586; P < 0.001), with increasing SAD. CONCLUSION: As shown above, SAD was a strong anthropometric marker of insulin resistance, risk of metabolic syndrome and decreased insulin sensitivity in Korean adults.
Adult ; Anthropometry ; Cholesterol, LDL ; Cross-Sectional Studies ; Drinking ; Glucose ; Health Promotion ; Humans ; Hypertension ; Hypertriglyceridemia ; Insulin ; Insulin Resistance ; Life Style ; Male ; Motor Activity ; Obesity ; Obesity, Abdominal ; Odds Ratio ; Plasma ; Risk Factors ; Smoke ; Smoking

PURPOSE: The purpose of this study is to evaluate the CT findings and clinical features of patients with pneumatosis intestinalis. MATERIALS AND METHODS: From January 2001 to October 2007, 15 patients with pneumatosis intestinalis were diagnosed by the use of CT. We analyzed the clinical features and CT findings to assess the involvement site, the presence of portal and mesenteric vein gas, and the existence of accompanied ischemic change. RESULTS: Of the 15 patients, five patients had end stage renal disease (33.3%), two patients underwent a gastrectomy, one patient underwent a laminectomy, one patient had tuberculous enteritis, one patient had lung cancer and one patient had pneumonia. Four patients presented with no specific disease. There was portal or mesenteric venous gas in six cases, and strangulation or an ischemic change of the bowel in five cases. Otherwise, pneumatosis intestinalis was associated with hydropneumoperitoneum in two cases, pneumoperitoneum in one case and a single case of perforated appendicitis. Nine patients underwent surgery for ischemic change of the bowel, hydropneumoperitoneum, appendicitis, and a clinical sign of panperitonitis. Among the remaining six patients, three patients recovered and were discharged, and three patients expired during progression of the disease. CONCLUSION: End stage renal disease is the most common condition associated with pneumatosis intestinalis. The presence of portomesenteric venous gas, ischemic change of the bowel, and linear pneumatosis intestinalis are indicative of a poor prognosis.
Appendicitis ; Enteritis ; Gastrectomy ; Humans ; Kidney Failure, Chronic ; Laminectomy ; Lung Neoplasms ; Mesenteric Veins ; Pneumatosis Cystoides Intestinalis ; Pneumonia ; Pneumoperitoneum ; Portal Vein ; Prognosis ; Renal Insufficiency

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
Syndrome ; Receptor, Fibroblast Growth Factor, Type 2/*genetics ; Polymorphism, Single Nucleotide/genetics ; Mutation ; Male ; Korea ; Infant, Newborn ; Humans ; Genetic Predisposition to Disease/genetics ; DNA Mutational Analysis ; Craniosynostoses/diagnosis/*genetics ; Craniofacial Abnormalities/diagnosis/genetics ; Abnormalities, Multiple/diagnosis/*genetics