BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. METHODS: We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). RESULTS: The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
*Chromosome Deletion ; Classical Lissencephalies and Subcortical Band Heterotopias/genetics ; DiGeorge Syndrome/genetics ; Humans ; In Situ Hybridization, Fluorescence/*methods ; Laboratories, Hospital ; Mental Retardation/*diagnosis/genetics ; Nucleic Acid Amplification Techniques/*methods ; Prader-Willi Syndrome/genetics ; Williams Syndrome/genetics

Elevated plasma homocysteine is an independent risk factor for the development of cardiovascular disease. Exercise is generally believed to reduce the plasma homocysteine levels and therefore, being beneficial for cardiovascular disease(CVD). However, there is a possibility that athletes undergoing strenuous training and competition which increase oxidative stress may suffer from increased plasma homocysteine levels. The purpose of this study was to investigate the influence of endurance training on the plasma concentrations of B vitamins and homocysteine in 23 male adolescent field hockey players. Data collection and blood sampling was performed during the training period and non-training period. Following the training period, significant changes in energy and vitamin B6 intakes were observed in these subjects. Plasma vitamin B2, pyridoxal phosphate (PLP) and homocysteine levels were significantly higher during the training period than non-training period, whereas no difference was observed in plasma folate and vitamin B12 levels. Positive correlation was observed between plasma folate and folic acid intakes. When energy, B vitamin intakes were adjusted there was a significant negative correlation between plasma homocysteine levels and plasma riboflavin, folate and vitamin B12 levels. In conclusion, it is suggested that athletes with oxidative stress by strenuous exercise may need B vitamins since riboflavin, folic acid and vitamin B12 were shown to be negatively correlated with plasma homocysteine in athletes during the training period.
Adolescent* ; Athletes ; Cardiovascular Diseases ; Data Collection ; Folic Acid ; Hockey* ; Homocysteine* ; Humans ; Male* ; Oxidative Stress ; Plasma* ; Pyridoxal Phosphate ; Riboflavin ; Risk Factors ; Vitamin B 12 ; Vitamin B 6 ; Vitamin B Complex ; Vitamins*

Newborn gastrointestinal tract emergency diseases include various disorders that occur anywhere along the digestive tract. Most of them are congenital malformations, not acquired diseases. Many of them cannot be confirmed on prenatal examination, and consequently, postnatal evaluation is required. Unlike adults, in newborn babies, detailed evaluations with computed tomography (CT) and magnetic resonance imaging (MRI) are often limited, so making the diagnosis based on early abdominal radiography is most important. Therefore, it is necessary to be familiar with the radiologic findings that may be seen on imaging studies. In addition, it is important to understand abdominal ultrasound and fluoroscopy findings, which can be used in addition to simple radiography and indications that can be used for further diagnosis and appropriate treatment. Therefore, this study describes and organizes the various imaging findings that may occur in neonatal gastrointestinal emergencies.

Background: This study aimed to investigate perceptions of Clostridioides difficile infection (CDI) diagnostic tests among physicians who prescribe CDI diagnostic tests as part of providing direct patient care. Methods: In August 2018, we provided a 12-question survey of gastroenterologists (the most common referral source for CDI testing) to 35 medical institutions in Korea, asking them about their perceptions of CDI diagnosis and testing. Results: A comparison of the perceptions of physicians and clinical pathologists (CPs) found that physicians had a lower perceived sensitivity of the toxin AB enzyme immunoassay test. For nucleic acid amplification tests, physicians exhibited a perception of higher assay sensitivity and specificity than CPs. The specificity of culture tests was generally perceived as high by physicians, whereas CPs regarding expressed mixed opinions. All but one physician and one CPs found the algorithmic test useful. Concerning the CDI isolation criteria, physicians commenced patient isolation by concurrently assessing both test results and clinical symptoms, rather than exclusively relying upon test results. Among CPs, 84.6% said they could rely on symptoms to determine when to release a patient from isolation, while 46.2% of physicians said they would rely on test results. Conclusion This study provides useful information on the status of laboratory diagnosis of CDI in Korea and what needs to be improved, which will help to standardize and improve laboratory diagnosis of CDI in Korea.

BACKGOUND: The effect of anesthetic techniques, such as closed circuit anesthesia (CCA) using semiclosed circuit system and semiclosed circuit anesthesia (SCCA), on the work of breathing has not been studied yet in detail. This study was purposed to compare the work of breathing according to anesthetic technique (CCA, SCCA). METHODS: Thirty patients were assigned to receive either SCCA group or CCA group (n = 15). Anesthesia was induced with propofol 2 mg/kg with 2% lidocaine 1 ml. Two percents isoflurane with O2 and N2O 2 L/min were given for 10 min to patients initially to wash in functional residual capacity and the breathing circuits. In SCCA group, anesthesia was maintained with 2% isoflurane in O2 2 L/min and N2O 2 L/min throughout the surgery. In CCA group, O2 was reduced to 200 ml/min and N2O to 100 ml/min with isoflurane vaporizer setting adjusted to 4% for anesthesia maintenance. When the operation was ended, the vaporizer setting of isoflurane deceased to zero and then O2 was increased to 4 L/min for the arousal of the patient. We measured the inspiratory/expiratory concentration of isoflurane, end-tidal CO2, the hemodynamic parameters, the change of airway pressure, the work of breathing, and compliance at anesthetic induction and emergence in both groups. RESULTS: There were no significant differences in the inspiratory/expiratory concentrations of isoflurane, the hemodynamic parameters, end-tidal CO2, airway pressure, the work of breathing and compliance between the groups. CONCLUSIONS: CCA using semiclosed circuit system does not increase the work of breathing compared to SCCA.
Anesthesia ; Anesthesia, Closed-Circuit* ; Arousal ; Compliance ; Functional Residual Capacity ; Hemodynamics ; Humans ; Isoflurane ; Lidocaine ; Nebulizers and Vaporizers ; Propofol ; Respiration ; Work of Breathing*

A 77-year old man presented with a fungating mass on the oral mucosa and lip, which had an irregular margin. An incisional biopsy of the mass revealed an invasive squamous cell carcinoma. PCR analysis detected HPV DNA in the biopsy specimen. The HPV type was determined as HPV-53 by direct cycle sequencing. This is the first report of HPV-53 in an oral malignant tumor.
Aged ; Biopsy ; Carcinoma, Squamous Cell* ; DNA ; Humans ; Lip ; Mouth Mucosa* ; Mouth Neoplasms ; Polymerase Chain Reaction

PURPOSE: The aim of this study was to evaluate the validity and reliability of the Korean version of the Person-centered Care Assessment Tool (P-CAT). METHODS: The English P-CAT was translated into Korean with forward and backward translation. Survey data were collected from 458 staff in 17 long-term care facilities in Korea. Construct validity and criterion related validity were evaluated. Cronbach's alpha was used to assess reliability. RESULTS: The Korean version of P-CAT was shown to be valid homogeneously by factor, item and content analysis. Internal consistency reliability was satisfactory in which the values of factor 1, factor 2 and the total scale were .84, .77 and .86 respectively. Exploratory factor analysis supported the construct validity with a two-factor solution. Factor loadings of the 13 items ranged in .34~.80. Criterion validity to the Person-centered Climate Questionnaire-staff (PCQ-S) was .74 (p<.001). CONCLUSION: The Korean version of the P-CAT was found to be an applicable instrument with satisfactory reliability and validity for further use in measuring successful person-centered care in long-term care facilities for older persons.
Adult ; Female ; Humans ; *Long-Term Care ; Male ; Middle Aged ; Nursing Staff, Hospital/*psychology ; *Program Evaluation ; Reproducibility of Results ; Republic of Korea ; Surveys and Questionnaires ; Translating

OBJECTIVE: To determine the safety and efficacy of immune ablation followed by autologous hematopoietic stem cell transplantation (HSCT) in refractory systemic lupus erythematosus (SLE). METHODS: Three patients who had been refractory to steroid and one or more immunosuppressive drug were included. Peripheral blood stem cells were mobilized with cyclophosphamide (CTX, 3 g/m(2)), followed by granulocyte-colony stimulating factor (5mug/kg/day). T lymphocytes were depleted from the graft by selection of CD34 positive cells. Conditioning regimens composed of high dose CTX (total dose 200 mg/kg) and anti-thymocyte globulin (total dose 90 mg/kg) in 2 patients and BEAM (BCNU 300 mg/m(2), etoposide 200 mg/m(2), cytarabine 200 mg/m(2), melphalan 200 mg/m(2)) in 1 patient. Stored stem cells were reinfused 48 hours after conditioning. RESULTS: Among 3 patients, first patient had lupus nephritis, second patient had overlap syndrome combined with rheumatoid arthritis (rhupus) and the last patient had severe thromobocytopenia and intractable polyserositis. No life threatening complications were observed during the treatment. All patients demonstrated rapid and marked improvement in organ function and quality of life just after HSCT. Previous massive proteinuria in first patient was decreased to less than 500 mg/day with 6 months follow up. Rhupus patient satisfied American college of rheumatology 70% response criteria with 3 months follow up. But third patient improved polyserositis dramatically 1 month after HSCT and relapsed at 9 weeks. CONCLUSION: In refractory SLE patients, HSCT can be performed safely with marked improvement and sustained withdrawal of all immunosuppressive medication. A further randomized trial is needed to confirm the efficacy and durability of remission.
Antilymphocyte Serum ; Arthritis, Rheumatoid ; Cyclophosphamide ; Cytarabine ; Etoposide ; Follow-Up Studies ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Lupus Erythematosus, Systemic* ; Lupus Nephritis ; Melphalan ; Proteinuria ; Quality of Life ; Rheumatology ; Stem Cells ; T-Lymphocytes ; Transplants

A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symmetrical lack of myelination in both anterior limbs of the internal capsule could be a diagnostic clue of cri-du-chat syndrome.
Brain ; Brain Stem ; Cerebellum ; Corpus Callosum ; Cri-du-Chat Syndrome* ; Extremities* ; Female ; Humans ; Infant ; Internal Capsule* ; Magnetic Resonance Imaging ; Myelin Sheath*

BACKGROUND: Systemic contact dermatitis commonly occurs with the intake of rhus (boiled chicken with rhus) as a health food and a folk medicine to cure gastrointestinal diseases in Korea. Rhus companies insist they have the technology for rhus detoxification. However, the numbers of systemic allergic contact dermatitis patients, caused by rhus, have not decreased. The principle of present techniques for rhus detoxification is the induction of the polymerization of urushiol, but polymerized urushiol may still have antigenicity, although to a diminished degree. The Korean Food and Drug Administration (KFDA) has a regulation to control urushiol use as a food. However, the laboratory method that KFDA uses for detection of rhus can only detect the urushiol monomer. OBJECTIVE: We conducted experiments to detect polymerized urushiol in rhus products, which were considered not to include urushiol by the KFDA. METHODS: Rhus product approved by the KFDA was separated with chloroform. The chloroform fractionation was accomplished on a recycle HPLC system. Four peaks were achieved and evaporated to give an amorphous powder. Each powder was analyzed on a NMR system and mass spectrometer. RESULTS: The material considered to be urushiol dimer, with a 638 molecular weight (MW), was detected in one of the four powders as per the HPLC peaks. CONCLUSION: We concluded that commercially available rhus product is comprised of material considered to be urushiol dimer. Therefore, even if the antigenicity of the rhus products is low, this product may cause adverse effects and is not completely detoxified.
Catechols ; Chickens ; Chloroform ; Chromatography, High Pressure Liquid ; Dermatitis, Allergic Contact ; Dermatitis, Contact ; Gastrointestinal Diseases ; Food, Organic ; Humans ; Korea ; Medicine, Traditional ; Molecular Weight ; Polymerization ; Polymers ; Powders ; Rhus ; United States Food and Drug Administration