No abstract available.
Child* ; Endoscopy* ; Humans

No abstract available.
Down Syndrome* ; Myeloproliferative Disorders*

No abstract available.
Child* ; Encephalitis* ; Humans

No abstract available.
Muscular Atrophy, Spinal* ; Spinal Muscular Atrophies of Childhood*

No abstract available.

No abstract available.
Bell Palsy* ; Gadolinium* ; Herpes Zoster Oticus* ; Herpes Zoster* ; Magnetic Resonance Imaging*

No abstract available.
Adult* ; Femur* ; Humans

OBJECTIVE: The aim of this study was to identify a transcriptomic signature that could be used to classify subjects with autism spectrum disorder (ASD) compared to controls on the basis of blood gene expression profiles. The gene expression profiles could ultimately be used as diagnostic biomarkers for ASD. METHODS: We used the published microarray data (GSE26415) from the Gene Expression Omnibus database, which included 21 young adults with ASD and 21 age- and sex-matched unaffected controls. Nineteen differentially expressed probes were identified from a training dataset (n=26, 13 ASD cases and 13 controls) using the limma package in R language (adjusted p value <0.05) and were further analyzed in a test dataset (n=16, 8 ASD cases and 8 controls) using machine learning algorithms. RESULTS: Hierarchical cluster analysis showed that subjects with ASD were relatively well-discriminated from controls. Based on the support vector machine and K-nearest neighbors analysis, validation of 19-DE probes with a test dataset resulted in an overall class prediction accuracy of 93.8% as well as a sensitivity and specificity of 100% and 87.5%, respectively. CONCLUSION: The results of our exploratory study suggest that the gene expression profiles identified from the peripheral blood samples of young adults with ASD can be used to identify a biological signature for ASD. Further study using a larger cohort and more homogeneous datasets is required to improve the diagnostic accuracy.
Autism Spectrum Disorder* ; Autistic Disorder* ; Biomarkers ; Cohort Studies ; Dataset ; Decision Support Techniques ; Gene Expression* ; Humans ; Machine Learning* ; Microarray Analysis ; Sensitivity and Specificity ; Support Vector Machine ; Transcriptome* ; Young Adult

The measurement of monoamine neurotransmitters and their metabolites lin the cerebrospinal fluid has important implications for the identification of those disorders assosciated with the central nervous system. The purpose of this study was to measure the concentrations of the biogenic amines and their metabolites using high performance liquid chromatography electrochemical detection (HPLC-ECD) in CSF of normal adults. Sixteen adults who were admitted to Severance Hospital from February to March, 1988 and presented no history of neurological disease with normal CSF findings were included in this study. The results were as follows: 1. Neither dopamine nor norepinephrine were detected in the CSF. 2. Serotonin was detected in 3 cases and 3.4-dihydroxyphenylacetic acid (DOPAC) was measured in 4 cases, but all in small amouints. 3. Homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were measured in all 16 cases, but 3-methoxy-4-hydroxyphenylethylene glycol (MHPG) was noted in 12 cases. The mean CSF concentrations of HVA, 5-HIAA, MHPG were 37.01 + 21.14ng/ml (ranging 6.14 - 81.15 ng/ml), respectively. 4. The concentrations of 5-HIAA and MHPG were correlated positively with age, but not the concentration of HVA. 5. Higher concentration of HVA, 5-HIAA and MHPG were found in femalse than males. These results indicate that the metabolites HVA, 5-HIAA and MHPG can be simultaneously measured in the human CSF by using HPLC-ECD, and this information may be valuable for the further study of centarl nervous system diseases.
Adult* ; Biogenic Amines ; Central Nervous System ; Cerebrospinal Fluid* ; Chromatography, Liquid ; Dopamine ; Homovanillic Acid ; Humans ; Hydroxyindoleacetic Acid ; Male ; Methoxyhydroxyphenylglycol ; Nervous System Diseases ; Neurotransmitter Agents* ; Norepinephrine ; Serotonin

Rahnella aquatilis, an infrequently isolated gram-negative rod, is the only species of the genus Rahnella within the Enterobacteriaceae family. The organism's natural habitat is water, from which most isolates have been recoverd. Infecions in humans have only occasionally been reported, especially in immunocompromised patients. We reort a case of bacteremia caused by this organism in a hemodialysis patient.
Bacteremia* ; Ecosystem ; Enterobacteriaceae ; Humans ; Immunocompromised Host ; Rahnella* ; Renal Dialysis*