Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient with a novel 1.13 Mb direct interstitial duplication within 19q13.32, which is the smallest fragment affected so far. A five-year old Korean boy of healthy parents presented with microcephaly, growth retardation, developmental delay, and craniofacial dysmorphism. Even though G-banded chromosome analysis at resolution of 550-band revealed normal karyotype, duplication of 1.13 Mb fragment within 19q13.32 was detected by array comparative genomic hybridization. Comparing with previously reported patients with pure duplication involving 19q as a sole chromosomal abnormality, our case showed the smallest duplication segment with relatively mild degree of clinical features. Our present case might serve as the landmark case among patients with 19q duplication for genotype-phenotype correlation study and further identification of critical region for 19q duplication abnormalities.
Arm ; Asian Continental Ancestry Group* ; Chromosome Aberrations ; Chromosomes, Human, Pair 19 ; Comparative Genomic Hybridization ; Genetic Association Studies ; Humans ; Karyotype ; Male ; Microcephaly* ; Parents ; Trisomy

No abstract available.
Agglutinins ; Blood Cell Count

No abstract available.
Child ; Chromosome Banding ; *Chromosome Deletion ; Chromosomes, Human, Pair 4/*genetics ; Comparative Genomic Hybridization ; Developmental Disabilities/diagnosis/*genetics ; Humans ; Male ; Sequence Deletion

No abstract available.
Bone Marrow/pathology ; Burkitt Lymphoma/*diagnosis/genetics ; Child ; Chromosomes, Human, Pair 1 ; Female ; Flow Cytometry ; Humans ; Immunoglobulin Heavy Chains/genetics ; Isochromosomes/*genetics ; Karyotype ; Karyotyping ; Proto-Oncogene Proteins c-myc/genetics ; Republic of Korea ; Translocation, Genetic

BACKGROUND: Increasing rates of Clostridium difficile infection (CDI) have been reported mainly in Europe and North America; however, only limited reports have originated in Korea. The current epidemiology of CDI in the community could help to understand the outpatient healthcare environment and to extend infection control measures to outpatient settings. METHODS: C. difficile isolates in NHIS Ilsan Hospital from 2012 to 2014 were included in this study. Clinical characteristics, acquisition types, and previous antimicrobial therapy were obtained via Electronic Medical Records. C. difficile culture was performed only in unformed stool. Toxin was positive by enzyme-linked fluorescent immunoassay (ELFA) in 247 specimens. In addition, toxin B and binary toxin gene were detected by PCR in 57 specimens. CDI was defined by toxigenic C. difficile isolation in unformed stool. RESULTS: In the previous 3 years, 251 unduplicated C. difficile cases have been detected; 168 healthcare facility- associated hospital onset (HCFA-HO), 45 healthcare facility-associated community onset (HCFA-CO), and 38 community-associated (CA). Toxin positive rates by ELFA for toxin A&B were HCFA-HO 50.6% (84/166), HCFA-CO 41.9% (18/43), and CA 42.1% (16/38). Toxin positive rate by PCR for tcdB were HCFA-HO 62.9% (22/35), HCFA-CO 69.2% (9/13), and CA 100% (9/9). No binary toxin (cdtA/cdtB) was detected in 57 cases. CONCLUSION: Community-associated CDI may be underestimated in Goyang province, Korea, especially by commonly used ELFA toxin assay. The spread of community-associated CDI should be recognized as an increasing burden of public health.
Clostridium difficile* ; Clostridium* ; Community-Acquired Infections ; Delivery of Health Care ; Electronic Health Records ; Epidemiology ; Europe ; Humans ; Immunoassay ; Infection Control ; Korea ; North America ; Outpatients ; Polymerase Chain Reaction ; Public Health*

No abstract available.
Adult ; Anticonvulsants/therapeutic use ; Bone Marrow/*pathology ; Epilepsies, Myoclonic/complications/*diagnosis/drug therapy ; Female ; Gaucher Disease/complications/*diagnosis/drug therapy ; Glucosylceramidase/genetics/therapeutic use ; Humans ; Phenotype ; Point Mutation ; Recurrence

No abstract available.
Cafe-au-Lait Spots* ; Chromosomes, Human, Pair 15* ; Humans

BACKGROUND: Muscular dystrophy is an X-linked recessive disorder caused by mutations in the DMD gene. Muscular dystrophy is classified into 2 types; Duchenne muscular dystrophy (DMD), which has severe clinical symptoms, and Becker muscular dystrophy (BMD), which has much milder clinical symptoms. Phenotypic progression to either DMD or BMD can be predicted by analyzing mutations in DMD by using the reading frame rule. METHODS: Of 88 patients with mutations in DMD, which were detected using Multiplex Ligation-dependent Probe Amplification DMD test kit (MRC-Holland, The Netherlands), medical records of 5 patients with non-contiguous duplications were reviewed. These rare non-contiguous duplications in DMD were compared with those reported previously. RESULTS: We identified 3 novel non-contiguous duplications in DMD that included exons 2-7 and 45-51, exons 5-37 and 50-59, and exons 52-53 and 56-61. The 5 patients with these non-contiguous duplications showed the phenotypic features of DMD. Especially, duplication of exons 52-53 and 56-61 was observed in a family, i.e., 2 DMD-affected brothers and their carrier mother. CONCLUSIONS: Prediction of phenotypes associated with complex non-contiguous duplications by using the reading frame rule is difficult because the duplications affect the expression of DMD together. Because most patients with non-contiguous duplications showed the phenotypic features of DMD, the reading frame rule should be interpreted cautiously. This study provides important insights on the non-contiguous duplications in DMD for understanding genotype-phenotype correlations and for developing dystrophin for therapeutic purposes.
Dystrophin ; Exons ; Genetic Association Studies ; Humans ; Medical Records ; Mothers ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne* ; Phenotype ; Reading Frames ; Siblings

The establishment and prompt reporting of critical values to patient care providers is one of the crucial requirements of clinical laboratories. Each laboratory is expected to individually establish the thresholds of critical values and periodically update the lists. In this study, we attempted to investigate the status of critical value reporting (CVR) systems in Korean clinical laboratories and develop adequate guidelines based on comparative reviews examining expert consensus. In responses from 11 clinical laboratories, the number of test items with a critical value threshold was 9.4 on average (standard deviation=5.0). Some of the test items, especially ammonia, lactate, and carboxyhemoglobin, lacked critical value thresholds despite having been recommended by expert opinions and guidelines. The upper limit of critical value thresholds showed variability, with glucose showing the largest difference among laboratories (range, 450–700 mg/ dL; coefficient of variation=14.7%). When evaluating the appropriateness of establishing critical value for a particular test, it is generally recommended to consider the “actionability” factors, which consist of effectiveness in decreasing mortality, availability of immediate response systems, and inclusion of the decision-making process in the institution’s critical pathway of standard patient care. As for the optimal value of individual thresholds, laboratory managers should review three quantitative markers: the ratio of CVR cases in total reported results, the ratio of confirmed CVR and responses by clinicians in total CVR cases, and the turnaround time of the tests assigned with critical value thresholds.

Background: Accurate measurement of glycated hemoglobin (HbA1c) is crucial for a diabetes diagnosis and subsequent patient management. The detection method and presence of variant Hb can interfere with HbA1c measurements. We evaluated the HbA1c-measuring performance of the DxC 700 AU (Beckman Coulter, Brea, CA, USA) immunoassay-based device in comparison with another immunoassay device and the reference method. Methods: A total of 120 normal and 14 variant Hb samples were analyzed using the Cobas c 513 (Roche Diagnostics, Mannheim, Germany) and DxC 700 AU analyzers. Variant Hb samples were also analyzed using the reference method, along with 20 normal samples. The accuracy, precision, linearity, and carryover were determined. Results: DxC 700 AU results strongly correlated with those of Cobas c 513 and exhibited accuracy in comparison with the reference method. The within-run, between-run, between-day, and total imprecision (%CV) values for the low- and high-concentration control materials were below 2%. The results of DxC 700 AU were linear over a wide HbA1c range (3.39%–18.30%). Although DxC 700 AU performed well in the presence of variant Hb, the HbA1c concentration was underestimated in the presence of fetal Hb. The possibility of interference from a high HbH proportion could not be ruled out. Conclusions The overall analytical performance of DxC 700 AU was acceptable. The device is accurate, precise, and linear over a wide HbA1c concentration range. Although DxC 700 AU results highly correlated with those of Cobas c 513, caution should be exercised in cases of high HbF and HbH concentrations.