No abstract available.
Asian Continental Ancestry Group/*genetics ; Child ; Chromosome Disorders/*diagnosis ; *Chromosomes, Human, Pair 2 ; Gene Deletion ; Humans ; Male ; Matrix Attachment Region Binding Proteins/*genetics ; Multiplex Polymerase Chain Reaction ; Republic of Korea ; Transcription Factors/*genetics

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

No abstract available.
Base Sequence ; Bone Marrow/pathology ; Fusion Proteins, bcr-abl/*genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics ; Male ; Middle Aged ; Real-Time Polymerase Chain Reaction

BACKGROUND: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to assess the usefulness of CMA for the purpose of clinical diagnostic testing in the Korean population. METHODS: We performed CMA and multiplex ligation-dependent probe amplification (MLPA) tests in 96 patients with normal karyotype and unexplained DD, MR, or ASD. The CMA was conducted with CytoScan 750K array (Affymetrix, USA) with an average resolution of 100 kb. RESULTS: Pathogenic copy number variations (CNVs) were detected in 15 patients by CMA and in two patients by MLPA for four known microdeletion syndromes (Prader-Willi/Angelman syndrome, DiGeorge syndrome, Miller-Dieker syndrome and Williams syndrome) designated by National Health Insurance system in Korea. The diagnostic yield was 15.6% and 2.1%, respectively. Thirteen (13.5%) patients (excluding cases with pathogenic CNVs) had variants of uncertain clinical significance. There was one patient with a 17.1-megabase (Mb) region of homozygosity on chromosome 4q. CONCLUSIONS: Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD, MR, and ASD in Korea.
Child ; Child Development Disorders, Pervasive ; Classical Lissencephalies and Subcortical Band Heterotopias ; Diagnostic Tests, Routine ; DiGeorge Syndrome ; Genetic Testing ; Humans ; Intellectual Disability ; Karyotype ; Korea ; Microarray Analysis* ; Multiplex Polymerase Chain Reaction ; National Health Programs

No abstract available.
Adult ; Brain/diagnostic imaging ; Bronchoscopy ; *Chromosomes, Human, Pair 9 ; Death, Sudden, Cardiac/*etiology ; Gene Duplication ; Humans ; Karyotyping ; Male ; Mental Disorders/*complications/genetics/pathology ; Tomography, X-Ray Computed ; Tracheomalacia/diagnostic imaging ; Ventricular Fibrillation/complications

Anti-f(ce) is a rare unexpected antibody against the ce(f) antigen. The aim of this study is to report a second case of anti-f(ce) identified in a patient. A 66-year-old-male with pancreatic cancer received percutaneous transhepatic biliary drainage. During pretransfusion tests, anti-f(ce) was identified. He had a history of multiple transfusions and was transfused with 2 units of antiglobulin crossmatch compatible RBCs without any adverse reactions. To confirm that the antibody was specific for ce(f) antigen, we crossmatched the patient's serum with RhD-positive red cells of Rh phenotype DcE, DCcEe, DCce, and DCe; all results were negative. Conversely, a crossmatch with RhD-negative red cells of Rh phenotype ce, Cce, and cEe, showed positive results for Rh phenotype ce and cEe red cells. Among the four reports that confirmed anti-e, we discovered the possibility of co-existence of anti-C or misidentification of anti-Ce as anti-e. Therefore, when antibodies against Rh antigens are identified, the possibility of co-existence of antibodies against compound antigens should be considered. Using unexpected antibody identification panel that ce(f) antigen positive red cells are marked is recommended for sensitive detection of anti-f(ce).
Antibodies ; Drainage ; Humans ; Pancreatic Neoplasms* ; Phenotype

BACKGROUND: Unexpected antibodies are an important cause of hemolytic transfusion reaction. Thus, unexpected antibody screening and identification tests should be performed before every transfusion. We evaluated the frequency and distribution of unexpected antibodies and the clinical characteristics of patients in a Korean secondary general hospital with 745 beds in the past 12 years. METHODS: Between March 2000 and October 2011, unexpected antibody screening and an identification test using the Bio-Rad ID-System (Bio-Rad, USA) were performed in 72,600 patients. RESULTS: Of the 72,600 patients, 467 (0.64%) showed positive results for antibody screening tests. Among them, alloantibodies were identified in 324 (69.4%) patients and the types of alloantibodies were not identified in 64 (13.7%) patients. Autoantibodies were detected in 71 (15.2%) patients and panagglutination reactions were detected in 8 (1.7%). Of the 467 cases, 164 (35.1%) had a history of transfusion in our hospital. Among the 324 patients in whom alloantibodies were identified, anti-E (37.3%), anti-Lea (16.7%), anti-E and anti-c (14.8%), anti-C and anti-e (5.6%), anti-Leb (4.9%), anti-D (4.6%), anti-Jka (3.1%), anti-S (2.5%), and anti-M (1.9%) were detected. In 41 of the 324 (12.7%) of these patients, the types of antibodies were identified with the NaCl/Enzyme gel test but not with the LISS/Coombs gel test. CONCLUSIONS: Among the 467 patients, 130 (27.8%) in whom unexpected antibodies were detected, were scheduled for surgery. Because 101 of these 130 patients (77.7%) were unimmunized, unexpected antibody screening may be important in secondary hospitals with patients who do not have a detailed transfusion history. We identified Rh, P, and Lewis group antibodies more efficiently with a combination of the LISS/Coombs gel test and the NaCl/Enzyme gel test.
Antibodies ; Autoantibodies ; Blood Group Incompatibility ; Hospitals, General ; Humans ; Isoantibodies ; Mass Screening

BACKGROUND: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS: The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the PRSS1, SPINK1, CFTR, and CTRC genes, copy numbers of PRSS1 and SPINK1, and clinical data from medical records. RESULTS: We identified three types of pathogenic PRSS1 variants in 11 patients, including p.N29I (n=1), p.R122H (n=1), and p.G208A (n=9). Sixteen patients exhibited heterozygous pathogenic variants of SPINK1, including c.194+2T>C (n=12), p.N34S (n=3), and a novel pathogenic splicing variation c.194+1G>A. A heterozygous CFTR p.Q1352H pathogenic variant was detected in eight patients. One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. All patients had normal PRSS1 and SPINK1 gene copy numbers. Weight loss occurred more frequently in patients carrying the p.G208A pathogenic variant, while pancreatic duct stones occurred more frequently in patients with the c.194+2T>C pathogenic variant. CONCLUSIONS: Pathogenic variants of PRSS1, SPINK1, and CFTR were associated with idiopathic pancreatitis, while pathogenic variants of CTRC were not. Copy number variations of PRSS1 and SPINK1 were not detected.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group/*genetics ; Carrier Proteins/*genetics ; Child ; Child, Preschool ; Chymotrypsin/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; DNA Copy Number Variations ; Female ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Pancreatitis, Chronic/*genetics/pathology ; Polymorphism, Genetic ; Republic of Korea ; Trypsin/*genetics ; Young Adult

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses. METHODS: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands). RESULTS: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively. CONCLUSIONS: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.
Adolescent ; Asian Continental Ancestry Group/*genetics ; B-Lymphocytes/*metabolism ; Child ; Child, Preschool ; *Chromosomes, Human, Pair 21 ; Core Binding Factor Alpha 2 Subunit/genetics ; DNA Probes/metabolism ; Female ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Multiplex Polymerase Chain Reaction ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics ; Proto-Oncogene Proteins c-ets/genetics ; Repressor Proteins/genetics ; Republic of Korea ; Translocation, Genetic ; Young Adult