No abstract available.
Education, Medical ; Learning

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl-/HCO3- exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.
Asian Continental Ancestry Group/*genetics ; Chloride-Bicarbonate Antiporters/*genetics ; DNA Mutational Analysis ; Diarrhea/*congenital/diagnosis/genetics/radiography ; Heterozygote ; Humans ; Infant ; Male ; Metabolism, Inborn Errors/*diagnosis/genetics/radiography ; Mutation ; Mutation, Missense ; RNA Splicing ; Republic of Korea ; Ultrasonography, Prenatal

BACKGROUND: This study was performed to determine the biopsy sites that are suitable for the diagnosis of Helicobacter pylori infection and to assess the sensitivity of culture, histology, and dual-priming oligonucleotide (DPO)-based multiplex PCR. Moreover, we evaluated the usefulness of PCR for the detection of 23S rRNA mutations, which are responsible for the clarithromycin resistance of H. pylori. METHODS: From 90 patients, we obtained biopsy specimens for culture, histology, and Seeplex(R) ClaR-H. pylori PCR (Seegene Inc., Korea). Phenotypic susceptibility to clarithromycin was evaluated using the E-test (AB Biodisk, Sweden). RESULTS: H. pylori was detected in 48 of 90 patients. The positive rates of infection in the antrum and body were higher than those in the biopsies obtained from the duodenal bulb. The positive rates in histology, PCR, and culture were 46.7%, 42.2%, and 34.4%, respectively. Using histology or PCR, we identified H. pylori in 46 of the 48 patients. 23S rRNA mutations were detected in 8 patients. The clarithromycin E-test showed that all the 10 wild-type patients were susceptible. However, the results of the PCR and E-test of 3 of the 8 mutation-positive patients were discrepant. CONCLUSIONS: We observed that a combination of histology and PCR affords a high detection rate of H.pylori infection and that DPO-based PCR can be practically used for the diagnosis of H. pylori infection and the determination of clarithromycin resistance. These techniques were useful for biopsy sampling simultaneously from the antrum and body for the detection of clarithromycin resistance of multiple strain infection or heteroresistance.
Anti-Bacterial Agents/*pharmacology ; Biopsy ; Clarithromycin/*pharmacology ; Drug Resistance, Bacterial ; Genotype ; Helicobacter Infections/*diagnosis/drug therapy/pathology ; Helicobacter pylori/drug effects/genetics/*isolation & purification ; Humans ; Microbial Sensitivity Tests ; Mutation ; Polymerase Chain Reaction ; RNA, Ribosomal, 23S/genetics

Background: The ultrasonic stadiometer was originally developed as a device to measure and monitor children’s height. However, an ultrasonic stadiometer (InLab S50; InBody Co., Seoul, Korea) was used to measure adults’ height in the 2018 Korea Community Health Survey (KCHS). This study was conducted to assess the reliability and validity of the InLab S50 in adults. Methods: The study subjects were 120 adults (reliability test, n=20; validity test, n=100) who had visited a health screening center. The intra- and inter-rater reliabilities of InLab S50 were assessed using the intraclass correlation coefficient (ICC). The agreement between InLab S50 and an automatic stadiometer (HM-201; Fanics, Busan, Korea) was assessed using Pearson’s correlation coefficient and Bland-Altman analysis. Results: The intra- and inter-rater reliabilities of the InLab S50 were excellent (ICC=0.9999 and 0.9998, respectively). The correlation coefficient of the height measured by the two measurement devices was very high (r=0.996). The difference (Δheight [HM-201-InLab S50]) was -0.15±0.78 cm (95% limit of agreement [LOA], -1.69 to 1.38). After excluding the values outside 95% LOA, the difference was further reduced to -0.05±0.59 cm (95% LOA, -1.20 to 1.10). Conclusion This study showed that the InLab S50 is a reliable and valid device for the measurement of adults’ height. Therefore, we think that InLab S50 could be used to measure adults’ height in household health surveys such as the KCHS.

Background: The ultrasonic stadiometer was originally developed as a device to measure and monitor children’s height. However, an ultrasonic stadiometer (InLab S50; InBody Co., Seoul, Korea) was used to measure adults’ height in the 2018 Korea Community Health Survey (KCHS). This study was conducted to assess the reliability and validity of the InLab S50 in adults. Methods: The study subjects were 120 adults (reliability test, n=20; validity test, n=100) who had visited a health screening center. The intra- and inter-rater reliabilities of InLab S50 were assessed using the intraclass correlation coefficient (ICC). The agreement between InLab S50 and an automatic stadiometer (HM-201; Fanics, Busan, Korea) was assessed using Pearson’s correlation coefficient and Bland-Altman analysis. Results: The intra- and inter-rater reliabilities of the InLab S50 were excellent (ICC=0.9999 and 0.9998, respectively). The correlation coefficient of the height measured by the two measurement devices was very high (r=0.996). The difference (Δheight [HM-201-InLab S50]) was -0.15±0.78 cm (95% limit of agreement [LOA], -1.69 to 1.38). After excluding the values outside 95% LOA, the difference was further reduced to -0.05±0.59 cm (95% LOA, -1.20 to 1.10). Conclusion This study showed that the InLab S50 is a reliable and valid device for the measurement of adults’ height. Therefore, we think that InLab S50 could be used to measure adults’ height in household health surveys such as the KCHS.

OBJECTIVE:The purpose of this study was to identify the prevalence of risk factors related to Gestational Diabetes Mellitus (GDM). METHODS:We retrospectively analyzed medical records of 1,091 pregnant women who had a 50 g oral glucose tolerance test (OGTT) at performed at the department of Obstetrics and Gynecology, Chungbuk National University Hospital from June, 1999 to March, 2006. The 1-hour plasma glucose level higher than 140 mg/dL was considered as a positive screening result. Patients with positive results underwent a 100 g OGTT as the diagnostic test for GDM, and more than 2 positive results were diagnosed as GDM, according to the American National Diabetes Data Group (NDDG) guideline. We investigated age, prevalence of obesity, weight gain, history of fetal anomaly, fetal death in uterus (FDIU), macrosomia, preeclampsia, GDM and familial history of diabetes mellitus, as the risk factors of GDM. RESULTS:Elderly gravida, history of FDIU, perinatal death, preeclampsia, and GDM, familial history of diabetes mellitus were the risk factors of GDM and macrosomia to a statistically significant degree. We found out that BMI and 50 g OGTT results were increased in GDM group. However, there was a pregnant woman with no risk factors who had been diagnosed with GDM. CONCLUSION : Although the pregnant women with risk factors should be managed carefully to detect GDM, we also suggest all pregnant women to take screening test even if they have no risk factors, to improve pregnancy outcomes by detecting and treating unexpected GDM early in pregnancy.
Blood Glucose ; Chungcheongbuk-do ; Diabetes Mellitus ; Diabetes, Gestational* ; Diagnostic Tests, Routine ; Female ; Fetal Death ; Glucose Tolerance Test ; Gynecology ; Humans ; Mass Screening ; Medical Records ; Obesity ; Obstetrics ; Pre-Eclampsia ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Prevalence ; Retrospective Studies ; Risk Factors* ; Uterus ; Weight Gain

This study aimed to examine consumers' interest, preference, and consumption frequency of Kimchi in elementary school students in the fifth grade and their mothers living in Changwon city. In a comparison of eating habits, students exhibited better eating habits than their mothers (P<0.01). Though the mothers' levels, were higher than those of the students in the category of 'eat foods with a bit of salt usually', the students' levels were higher in the rest of the eating habit categories. The categories of 'like Kimchi', 'spicy taste', and 'appropriately spicy taste' got high levels. Among several kinds of Kimchi, both students and mothers preferred 'cabbage Kimchi' the most. Among various Kimchi foods, preferences for 'Kimchi pancake', 'fried rice with Kimchi', and 'tuna Kimchi soup', were highest in that order. The preferences differed between students and mothers in each category; mothers' preferences were significantly higher than those of students. However, in the rest of categories, except 'boiled kimchi and fish' and 'Kimchi and stir-fried spicy pork', students' preferences were higher than mothers' ones. Compared to their preferences, students' consumption frequencies were significantly higher than mothers' ones (P<0.01). There were positive correlations among students' eating habits, awareness of Kimchi, consumption frequency, and preference. For mothers, there were positive correlations not only between eating habits and awareness, but also between awareness and preference.
Eating ; Humans ; Isothiocyanates ; Mothers

BACKGROUND: Infection by the intracellular bacteria Mycoplasma pneumoniae, Chamydophila pneumoniae, and Legionella pneumophila are common causes of community-acquired pneumonia (CAP). This study describes the evaluation of a new multiplex real-time PCR test, EuDx™-PN MLC Detection Kit (EUDIPIA), which allows the simultaneous detection of M. pneumoniae, C. pneumoniae, and L. pneumophila in respiratory samples. METHODS: A total of 353 samples were tested using three PCR kits: multiplex PCR (Seeplex PneumoBacter ACE Detection Kit) and two multiplex real-time PCR (EuDx™-PN MLC Detection Kit and Anyplex™ II RB5 Detection Kit). The results were considered true positives (expanded standard) for M. pneumoniae, C. pneumoniae, and L. pneumophila if they were positive according to any of the three tests. RESULTS: The sensitivity and specificity of EuDx™-PN MLC Detection Kit were 93.3–100% and 100%, respectively. The agreement rate and Cohen's kappa coefficient (value) between EuDx™-PN MLC Detection Kit and Anyplex™ II RB5 Detection Kit for M. pneumoniae, C. pneumoniae, and L. pneumophila were 70–100% and 0.82–1, respectively. CONCLUSION: These results demonstrate that the EuDx™-PN MLC Detection Kit is a sensitive, specific, and useful screening tool for the detection of atypical pathogens in respiratory samples and can be helpful in selecting appropriate antimicrobial therapy for patients with respiratory infection.
Bacteria ; Chlamydial Pneumonia* ; Chlamydophila pneumoniae* ; Chlamydophila* ; Humans ; Legionella pneumophila* ; Legionella* ; Mass Screening ; Multiplex Polymerase Chain Reaction ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia ; Pneumonia, Mycoplasma* ; Polymerase Chain Reaction ; Real-Time Polymerase Chain Reaction ; Respiratory Tract Infections ; Sensitivity and Specificity

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.
Chromosomes, Human, Pair 18 ; Foot ; Hand ; Hernia, Umbilical ; Humans ; Intellectual Disability ; Phenotype ; Prognosis ; Survival Rate ; Trisomy

The association of thymoma with pure red cell aplasia has been well documented, but amegakaryocytic thrombocytopenia is not a recognized paraneoplastic syndrome complicating thymoma. We report a case of thymoma-complicated pure red cell aplasia and amegakaryocytic thrombocytopenia in a 73-yr-old woman. Pure red cell aplasia was diagnosed seven months after the detection of thymoma. One year after the diagnosis of pure red cell aplasia and seven months after thymectomy, bone marrow aspiration and biopsy showed an absence of megakaryocytes, marked erythroid hypoplasia with normal myeloid series. A diagnosis of amegakaryocytic thrombocytopenia and pure red cell aplasia was made. Oral steroid maintenance therapy resulted in recovery of platelet count. She has still transfusion-dependant anemia but platelet and neutrophil counts had been maintained in normal range for more than five months, until the last follow-up. We think that autoreactive T cells may induce a clinical autoimmune response even after eradication of thymoma, and aplastic anemia as a late complication following thymectomy was described in previous cases. This patient also has to be under a close observation because of the possibility to evolve into aplastic anemia.
Aged ; Bone Marrow/pathology ; Female ; Humans ; Imidazoles/therapeutic use ; Megakaryocytes/pathology ; Pregnadienetriols/therapeutic use ; Red-Cell Aplasia, Pure/complications/*diagnosis ; Thrombocytopenia/*diagnosis/drug therapy/*etiology ; Thymectomy/*adverse effects ; Thymoma/*complications/diagnosis/surgery ; Thymus Neoplasms/*complications/diagnosis/surgery