No abstract available.
Phenylketonurias*

Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa and 5-hydroxytriptophan seems to be the most effective treatment and may prevent irreversible neurologic damage if started early in life in hyperphenylalaninemia due to deficiency of cofactor BH4. Therefore, all patients with PKU and hyperphenylalaninemia should be tested for BH4 deficiency as early as passible. So we measured reduced forms of biopterin in urines of 19 phenylketonuria patients by Funkushima and Nixon method and 13 of PKU patients measured dihydropterin reductase (DHPR) in white blood cells by modified Narisawa method. We could not find abnormal pterin patterns of cofactor BH4 and normal value of DHPR. All Korean 19 PKU children were classic PKU. A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of 16 Koran PKU patients. 5 mutations (IVS4, Y204 C, R243Q, Y356 X, R413 P) have been identified. The frequency of these mutations was found to be 50% of PKU alleles. The IVS4 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. the R413 P mutation, which may have originated in the regions surrounding the Baikal, expanded to northen China and Japan. We were not able to find Caucasian mutations in Korean ptiets. PKU mutations occured after racial divergence between Caucasian and Mongoloids. We observed that PKU patients with Y 204 C and R413 P mutations showed mild mild clinical phenotype but IVS4 mutation had severe mental retardation. the establishment of genotype will therefore aid in the prediction of clinical phenotypes in patients with this disease. So, pterin and DHPR measurement and DNA analsis will be useful for prognosis and proper treatment of PKU patients.
Alleles ; Biopterin ; Child ; China ; DNA* ; Founder Effect ; Genetic Drift ; Genotype ; Humans ; Intellectual Disability ; Japan ; Korea ; Leukocytes ; Levodopa ; Metabolism ; Mutation, Missense ; Neurotransmitter Agents ; Oxidoreductases ; Phenotype ; Phenylalanine ; Phenylalanine Hydroxylase ; Phenylketonurias ; Prognosis ; Recycling ; Reference Values ; Serotonin ; Tryptophan ; Tyrosine

We report a non-obese patient suffering from spastic gait and right leg paresis caused by thoracic spinal cord compression secondary to spinal epidural lipomatosis. Although spinal epidural lipomatosis is most often associated with the administration of exogenous steroid or endogenous Cushing syndrome, obesity also has been reported as a possible cause. However, idiopathic(non-glucocorticoid induced) spinal epidural lipomatosis in non-obese healthy man is an extremely rare disease and dose not have any good explanation for the abnormal fat deposition in spinal epidural space. We recently experienced a patient with idiopathic thoracic epidural lipomatosis in whom MRI and histopathology established the specific diagnosis. With a case report, brief review of the disease including clinical feature, diagnostic procedure and therapeutic considerations is described.
Cushing Syndrome ; Diagnosis ; Epidural Space ; Gait Disorders, Neurologic ; Humans ; Leg ; Lipomatosis* ; Magnetic Resonance Imaging ; Obesity ; Paresis ; Rare Diseases ; Spinal Cord Compression

Using lactoferrin as the specific ligand, we developed a simplified method for preparation of molecular conjugate for gene delivery. Replacement of column chromatography and dialysis by one step centrifugal filtration (Centricon, cut off size : 30,000), resulted in the rapid purification of bovine lactoferrin/polylysine (bLf/pL) and human lactoferrin/polylysine (hLf/pL) conjugates and easy separation of unconjugated polylysine. The Lf/pL conjugates prepared by this method efficiently transferred the reporter genes, CAT and LacZ gene, to HeLa and hepatic cells. The bLf/pL and hLf/pL conjugates could transfer the reporter genes to various hepatocytes including primary mouse hepatocyte, Hepa 1-6, SK-Hep1 and Chang liver, but not to NIH 3T3 mouse fibroblast cells, indicating that the Lf/pL conjugates conferred hepatocyte-specific gene transfer. The bLf/pL and hLf/pL conjugates prepared in the present study exhibited higher transfection efficiencies for mouse and human hepatocytes than the commercially available transferrin/polylysine (Tf/pL) conjugate.
Animals ; Cats ; Chromatography ; Dialysis ; Fibroblasts ; Filtration ; Genes, Reporter ; Genes, vif* ; Hepatocytes* ; Humans ; Lac Operon ; Lactoferrin* ; Liver ; Mice ; Polylysine ; Transfection

BACKGROUND AND OBJECTIVES: Stem cell-based therapy is a potential new approach in the treatment of stroke. However, the efficacy and safety of these treatments are not yet fully understood. Therefore, we performed a meta-analysis of available single-arm studies using stem cell-based therapy in patients with stroke. METHODS: We searched MEDLINE, EMBASE, and the Cochrane database for studies of stem cell therapy in patients with stroke from its inception through July 2014. The articles included in the search were restricted to the English language, studies with at least 5 patients, and those using cell-based therapies for treating stroke. RESULTS: Fourteen studies included in the meta-analysis. The pooled mean difference in National Institutes of Health Stroke Scale (NIHSS) scores from baseline to follow-up points was 5.7 points (95%CI: -8.2 to -3.2, I2=91.5%) decreased. Also the pooled mean difference in modified Bathel index (BI) score was increased by 31.5 points (95%CI: 35.6~14.9, I2=52.7%) and the pooled incidence rate to achieve on modified Rankin score (mRS)< or =2 was 40% (95% CI: 30%~51%, I2=35.4%) at follow-up points. The pooled incidence rates of death, seizure, and infection were 13% (95%CI, 8~23%), 15% (95%CI, 8~25%), and 15% (95%CI, 8~23%), respectively. CONCLUSIONS: The published data suggest that stem cell-based therapy for patients with stroke can be judged as effective based on single arm clinical studies. However, clinical benefits of stem cell therapy for patients with stroke need further investigation and reevaluation to test the clinical efficacy.
Arm* ; Follow-Up Studies ; Humans ; Incidence ; National Institutes of Health (U.S.) ; Seizures ; Stem Cells* ; Stroke*

While nontuberculous mycobacterium (NTM) infections are recently on the rise, arthritis caused by NTM is hardly reported in Korea. NTM arthritis has no distinctive clinical characteristics from chronic arthritis. Tuberculosis of the joint specifically produces similar clinical and pathologic presentations to NTM arthritis, so it is not easy to distinguish between them. We report a case of Mycobacterium intracellulare in an arthritis patient after trauma and surgical repair of the injury. At the beginning, the patient was diagnosed as tuberculous tenosynovitis through pathology without microbiologic evidence. The final diagnosis was made after subsequent recurrences for several years. The misdiagnosis and delayed diagnosis led to irreversible joint destruction and functional impairment. NTM infection must be included in the differential diagnosis of chronic arthritis at the outset.
Arthritis ; Delayed Diagnosis ; Diagnosis, Differential ; Diagnostic Errors ; Humans ; Joints ; Korea ; Mycobacterium ; Mycobacterium avium Complex ; Mycobacterium avium-intracellulare Infection ; Nontuberculous Mycobacteria ; Recurrence ; Tenosynovitis ; Tuberculosis

OBJECTIVES: The present study was performed to verify the validity and value of 4th revision of Schizophrenia Quality of Life Scale (SQLS-R4) as an assessment tool in a Korean-language version (SQLS-R4K). METHODS: The subjects for present study were 174 patients with a diagnosis of schizophrenia as defined by DSM-IV. The SQLS-R4K was administered together with self-report Korean version of World Health Organization Quality of Life-Brief Scale (WHOQOL-BREF) to assess validity. A subset of respondents also completed the SQLS-R4K for a second time to assess test-retest reliability. To evaluate the relationship SQLS-R4K and clinical characteristics, psychotic symptoms and general functioning were evaluated using the Positive and Negative Syndrome Scale (PANSS) and the Global Assessment of Functioning Scale (GAF) score respectively. RESULTS: All the scales of SQLS-R4K showed good internal consistency reliability. The correlations of items with their scale total revealed that all items were significantly correlated with their own scale score. In test-retest reliability, paired t-tests indicated that responses did not alter significantly between the two assessment. There was moderate correlation between WHOQOL-BREF sub-scores and SQLS-R4K score total. Also relevant correlations between PANSS, current GAF and SQLS-R4K were proved. CONCLUSION: From the results of the testing the reliability and validity of the SQLS-R4K, it is concluded that the SQLS-R4K is a simple and reliable scale for measuring quality of life in schizophrenic patients.
Surveys and Questionnaires ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Quality of Life* ; Reproducibility of Results ; Schizophrenia* ; Weights and Measures ; World Health Organization

Despite the coronavirus disease 2019 (COVID-19) vaccination roll-out, variant-related outbreaks have occurred repeatedly in Korea. Although public hospitals played a major role in COVID-19 patients’ care, difficulty incorporating evolving COVID-19 treatment guidelines called for a clinical pathway (CP). Eighteen public hospitals volunteered, and a professional review board was created. CPs were formulated containing inclusion/exclusion criteria, application flow charts, and standardized order sets. After CP roll-out, key parameters improved, such as increased patient/staff five-point satisfaction scores (0.41/0.57) and decreased hospital stays (1.78 days)/medical expenses (17.5%). The CPs were updated consistently after roll-out as new therapeutics drugs were introduced and quarantine policies changed.