Objective: To analyze the rheological and biochemical properties of saliva in healthy adults. Methods: The subjects were seven healthy young adults (20-39 years). The whole saliva was collected by the spitting method between 9:00 am and 12:00 am. Unstimulated saliva was collected first, which was followed by the collection of stimulated saliva using citric acid was collected. The viscosity was measured using a capillary viscometer to examine the rheological properties. The MUC5B concentration was analyzed using an enzyme-linked immunosorbent assay (ELISA) for the biochemical properties. Results: Ten and five minutes were required on average for unstimulated saliva and stimulated saliva, respectively, to collect the minimum amount needed for analysis (8 ml). The flow rate increased from 1.037±0.323 ml/min to 1.823± 0.660 ml/min after stimulation (P=0.018). Citric acid stimulation also increased the MUC5B concentration in the saliva from 3.706±3.575 μg/ml to 6.928±2.03 μg/ml (P=0.028). The viscosity of saliva, however, did not show a significant difference between with (1.1±0.164 cSt) or without (1.019±0.08 cSt) stimulation (P=0.128). A positive correlation was observed between the flow rate and MUC5B concentration (Spearman’s rho=0.547, P=0.043). On the other hand, there was no significant correlation between the MUC5B concentration and viscosity both in the unstimulated and stimulated saliva (P=0.939 and 0.819, respectively). Conclusion No significant correlation was observed between the MUC5B concentration and viscosity. Considering the time required to collect samples, an analysis of the stimulated saliva appears feasible in various research settings.The feasibility of these analysis methods should be examined in a patient population.

BACKGROUND: Herpes simplex virus type 2 (HSV-2) is the second most common cause of viral meningitis and the most common cause of recurrent meningitis. Although the incidence of HSV-2 meningitis is high, its clinical characteristics are not well known. The purpose of this study was to review the clinical characteristics and prognosis of HSV-2 meningitis. METHODS: We analyzed patients who were admitted to the Department of Neurology at Severance Hospital with a final diagnosis of HSV-2 meningitis, as confirmed by applying the polymerase chain reaction to the cerebrospinal fluid (CSF) of patients. RESULTS: The study involved 998 patients with aseptic meningitis and 60 patients diagnosed with HSV-2 meningitis. The mean age at meningitis presentation was 32.5 years (range 18-54 years), and 72% of the patients were female. Common clinical symptoms were headache (100%), nausea and/or vomiting (83%), meningismus (57%), and fever (55%). Six patients had a history of genital herpes infection, and 11 had a past history of recurrent meningitis. The CSF study was notable for elevated protein (111.0±53.5 mg/dL, mean±standard deviation) and white cell count (332.0±211.3 cells/µL). The CSF/serum glucose ratio was 0.52±0.90. Various treatments were applied, including conservative care, antiviral agents, empirical antibiotics, and combined treatments. All patients recovered without serious neurologic sequelae. CONCLUSIONS: HSV-2 meningitis is relatively common, as are recurrent episodes. The clinical characteristics of HSV-2 meningitis are similar to those of other types of aseptic meningitis. HSV-2 meningitis is treated using antiviral therapy, and the prognosis is favorable even with conservative treatment.
Anti-Bacterial Agents ; Antiviral Agents ; Cell Count ; Cerebrospinal Fluid ; Diagnosis ; Female ; Fever ; Glucose ; Headache ; Herpes Genitalis ; Herpes Simplex* ; Herpesvirus 2, Human* ; Humans ; Incidence ; Meningism ; Meningitis ; Meningitis, Aseptic ; Meningitis, Viral ; Nausea ; Neurology ; Polymerase Chain Reaction ; Prognosis ; Retrospective Studies* ; Simplexvirus* ; Vomiting

Objective: To investigate the clinical and swallowing characteristics related to respiratory infection in patients with parkinsonism. Methods: One hundred and forty-two patients with parkinsonism who underwent videofluoroscopic swallowing studies (VFSS) were enrolled in this study. The initial clinical and VFSS characteristics were compared between patients with and without a history of respiratory infection in the past year. A multivariate logistic regression model was applied to identify clinical and swallowing characteristics related to respiratory infections. Results: Patients with respiratory infections were older (74.75±10.20 years vs. 70.70±8.83 years, p=0.037), had a higher Hoehn and Yahr (H&Y) stage (stage IV–V, 67.9% vs. 49.1%; p=0.047), and were more likely to have a diagnosis of idiopathic Parkinson’s disease (IPD) (67.9% vs. 41.2%, p=0.011) than those without respiratory infections. Among VFSS findings, bolus formation, premature bolus loss, oral transit time, pyriform sinus residues, pharyngeal wall coatings, and penetration/aspiration were significantly worse in patients with respiratory infections (p<0.05). Regarding clinical characteristics, higher H&Y stage (odds ratio [OR], 3.174; 95% confidence interval [CI], 1.226–8.216; p=0.017) and diagnosis of IPD (OR, 0.280, 95% CI, 0.111–0.706; p=0.007) were significantly related to respiratory infections in the multivariate analysis. Among VFSS findings, pyriform sinus residue (OR, 14.615; 95% CI, 2.257–94.623; p=0.005) and premature bolus loss (OR, 5.151; 95% CI, 1.047–25.338; p=0.044) were also significantly associated with respiratory infection. Conclusion This study suggests that disease severity, diagnosis, pyriform sinus residue, and premature bolus loss observed in VFSS are associated with respiratory infection in patients with parkinsonism.

No abstract available.
Infarction ; Stroke, Lacunar

OBJECTIVES: Rare disease research requires a broad range of disease-related information for the discovery of causes of genetic disorders that are maladies caused by abnormalities in genes or chromosomes. A rarity in cases makes it difficult for researchers to elucidate definite inception. This knowledge base will be a major resource not only for clinicians, but also for the general public, who are unable to find consistent information on rare diseases in a single location. METHODS: We design a compact database schema for faster querying; its structure is optimized to store heterogeneous data sources. Then, clinicians at Seoul National University Hospital (SNUH) review and revise those resources. Additionally, we integrated other sources to capture genomic resources and clinical trials in detail on the Korean Rare Disease Knowledge base (KRDK). RESULTS: As a result, we have developed a Web-based knowledge base, KRDK, suitable for study of Mendelian diseases that commonly occur among Koreans. This knowledge base is comprised of disease summary and review, causal gene list, laboratory and clinic directory, patient registry, and so on. Furthermore, database for analyzing and giving access to human biological information and the clinical trial management system are integrated on KRDK. CONCLUSIONS: We expect that KRDK, the first rare disease knowledge base in Korea, may contribute to collaborative research and be a reliable reference for application to clinical trials. Additionally, this knowledge base is ready for querying of drug information so that visitors can search a list of rare diseases that is relative to specific drugs. Visitors can have access to KRDK via http://www.snubi.org/software/raredisease/.
Databases, Genetic ; Humans ; Information Storage and Retrieval ; Knowledge Bases ; Korea ; Online Systems ; Rare Diseases

No abstract available.
Hiccup* ; Myoclonus

PURPOSE: Mercaptopurine (MP) is one of the main chemotherapeutics for acute lymphoblastic leukemia (ALL). To improve treatment outcomes, constant MP dose titration is essential to maintain steady drug exposure, while minimizing myelosuppression. We performed two-stage analyses to identify genetic determinants of MP-related neutropenia in Korean pediatric ALL patients. MATERIALS AND METHODS: Targeted sequencing of 40 patients who exhibited definite MP intolerance was conducted using a novel panel of 211 pharmacogenetic-related genes, and subsequent analysis was performed with 185 patients. RESULTS: Using bioinformatics tools and genetic data, four functionally interesting variants were selected (ABCC4, APEX1, CYP1A1, and CYP4F2). Including four variants, 23 variants in 12 genes potentially linked to MP adverse reactions were selected as final candidates for subsequent analysis in 185 patients. Ultimately, a variant allele in APEX1 rs2307486was found to be strongly associated with MP-induced neutropenia that occurred within 28 days of initiating MP (odds ratio, 3.44; p=0.02). Moreover, the cumulative incidence of MP-related neutropenia was significantly higher in patients with APEX1 rs2307486 variants, as GG genotypes were associated with the highest cumulative incidence (p < 0.01). NUDT15 rs116855232 variants were strongly associated with a higher cumulative incidence of neutropenia (p < 0.01), and a lower median dose of tolerated MP throughout maintenance treatment (p < 0.01). CONCLUSION: We have identified that APEX1 rs2307486 variants conferred an increased risk of MP-related early onset neutropenia. APEX1 and NUDT15 both contribute to cell protection from DNA damage or misincorporation, so alleles that impair the function of either gene may affect MP sensitivities, thereby inducing MP-related neutropenia.
6-Mercaptopurine ; Alleles ; Computational Biology ; Cytochrome P-450 CYP1A1 ; Cytoprotection ; DNA Damage ; Genotype ; Humans ; Incidence ; Neutropenia* ; Pediatrics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma*

Objective: Radiomic modeling using multiple regions of interest in MRI of the brain to diagnose juvenile myoclonic epilepsy (JME) has not yet been investigated. This study aimed to develop and validate radiomics prediction models to distinguish patients with JME from healthy controls (HCs), and to evaluate the feasibility of a radiomics approach using MRI for diagnosing JME. Materials and Methods: A total of 97 JME patients (25.6 ± 8.5 years; female, 45.5%) and 32 HCs (28.9 ± 11.4 years; female, 50.0%) were randomly split (7:3 ratio) into a training (n = 90) and a test set (n = 39) group. Radiomic features were extracted from 22 regions of interest in the brain using the T1-weighted MRI based on clinical evidence. Predictive models were trained using seven modeling methods, including a light gradient boosting machine, support vector classifier, random forest, logistic regression, extreme gradient boosting, gradient boosting machine, and decision tree, with radiomics features in the training set. The performance of the models was validated and compared to the test set. The model with the highest area under the receiver operating curve (AUROC) was chosen, and important features in the model were identified. Results: The seven tested radiomics models, including light gradient boosting machine, support vector classifier, random forest, logistic regression, extreme gradient boosting, gradient boosting machine, and decision tree, showed AUROC values of 0.817, 0.807, 0.783, 0.779, 0.767, 0.762, and 0.672, respectively. The light gradient boosting machine with the highest AUROC, albeit without statistically significant differences from the other models in pairwise comparisons, had accuracy, precision, recall, and F1 scores of 0.795, 0.818, 0.931, and 0.871, respectively. Radiomic features, including the putamen and ventral diencephalon, were ranked as the most important for suggesting JME. Conclusion Radiomic models using MRI were able to differentiate JME from HCs.