We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had a variety of clinical features including characteristic facial dysmorphism, cardiac abnormalities, and thrombocytopenia. The karyotype was described as 46,XX,rec(11)dup(11p)inv(11)(p15.1q24.2)pat and methylation-specific multiplex ligation-dependent probe amplification analysis showed duplication of the 11p15.5 region and hypermethylation of imprinting center 1. Chromosomal microarray analysis demonstrated 23.8 Mb duplication on 11pter-p14.3 and 13.8 Mb deletion on 11q23.3-qter. These results were consistent with BWS and JBS, respectively. Because uniparental disomy inherited from paternal pericentric inversion results in simultaneous 11p15.5 duplication and 11q23.3 deletion, appropriate genetic tests are necessary for accurate genetic diagnosis of patients.

Mucormycosis is a fungal infection, which is difficult to treat due to its rapid dissemination and low susceptibility to anti-fungal agents. Peritonitis preceded by gastrointestinal mucormycosis is very rare, and only a few cases have been reported. We present a case of peritonitis and disseminated mucormycosis caused by Mucor circinelloides in an immunocompromised patient. A 59-year-old man, diagnosed with nodal marginal zone B-cell lymphoma, was diagnosed with liver failure due to severe septic shock. A white, woolly cotton-like growth, which was consistent with that of Mucor species, was isolated from ascites and sputum specimens. Targeted DNA sequencing confirmed the isolate as M. circinelloides with 100% identity. Despite anti-fungal treatment, the patient died after four days. This is a rare case of peritonitis and disseminated mucormycosis that was probably preceded by gastrointestinal mucormycosis caused by M. circinelloides, as determined by molecular methods. Accurate and rapid identification of mold using molecular methods might be necessary for early treatment in critical cases, and more cases should be clinically evaluated further.

Pestalotiopsis species are filamentous fungi that are known plant pathogens commonly isolated in tropical and subtropical regions. To the best of our knowledge, this is the first case of human infection caused by Pestalotiopsis mangiferae. An 80-year-old male farmer presented with ocular pain in the right eye. At initial presentation, slit-lamp examination showed a 3.0×2.5 mm-sized epithelial defect in the cornea of the right eye accompanied by corneal thinning. A KOH examination revealed spores, and consequently, treatment with voriconazole, ceftazidime, and moxifloxacin was initiated. One month later, a second KOH examination and fungal culture were performed. The results of the KOH examination indicated the presence of many hyphae, and fungus was isolated from the culture. Molecular identification revealed that the sequence had 100% similarity to P. mangiferae. The patient was treated with therapeutic penetrating keratoplasty. During follow-up in the outpatient clinic, signs of infection were not observed.

Cross-reactive carbohydrate determinants (CCDs) are simple carbohydrates linked to amino acid chains; they are found in pollens, vegetable foods, insect, and Hymenoptera venoms and are broadly cross-reactive with CCD-specific IgE antibodies. A man in his fifties was evaluated using a multiple allergen simultaneous test–immunoblot assay. On the PROTIA Allergy-Q 64 inhalant panel (ProteomeTech, Korea), reactions to 37 of 59 antigens were observed except mammalian antigens, and cross-reactivity owing to anti-CCD antibodies was suspected. After ProGlycAn CCD-blocker (ProGlycAn, Austria) treatment, the patient exhibited no response to CCD allergens, and the number of allergens showing positive reactions was reduced to 15. We further tested a total of 7 samples from patients who were suspected to have CCD-related cross-reactivity. For these 8 patients, the average number of positive reactions to allergens was reduced from 33 (range 24-36) to 8 (range 0-19) after CCD-blocker treatment. We concluded that CCD-blocker treatment in sample with anti-CCD antibodies can reduce the false positive reponse and provide more specific information about allergens.

Background: For effective management of blood components, periodic updates of the maximum surgical blood order schedule (MSBOS) using recent data are crucial. This study aimed to establish an updated MSBOS and red blood cell (RBC) mean transfusion units per patient according to the adjacent diagnosis related groups (ADRG) classification system. Methods: This retrospective study was based on an audit of the medical records of inpatients at a tertiary hospital between January and December 2017. We investigated transfusion-related data to establish the MSBOS and determine the RBC mean transfusion units per patient according to the ADRG and compared these updated values with previous data. Results: During the investigated period, a total of 5,607 RBC units were transfused in 17,382 patients. The revised MSBOS was similar to the previous MSBOS in most surgeries. Among the 130 ADRG codes analyzed, 34 codes showed an increase, while 96 codes showed a decrease in RBC mean transfusion units per patient, compared to data from 2007. Overall, the RBC mean transfusion units per patient in 2017 was 0.89 units less compared to that in 2007 after adjusting for age (95% CI: 0.853–0.912). Conclusions The revised MSBOS was similar to that of the previous versions. However, there were differences in the number of RBC transfusion units used in some surgeries and disease treatments compared to those in the past. Considering the changes within the medical environment, this study highlights the importance of periodic evaluation of MSBOS and RBC transfusion usage.

Background: Because there is limited recent information on this topic, this study investigated the seroprevalence of anti-hepatitis A virus (HAV) immunoglobulin G (IgG) in the South Korean population in 2015–2017. Methods: Anti-HAV IgG seroprevalence data were obtained from the laboratory information system of Green Cross Laboratories, one of the largest referral laboratories in South Korea. Results: During the three-year study period, we obtained test results from 240,840 individuals (124,353 men and 116,487 women) from 1,348 hospitals and local clinics throughout South Korea. The median (range) age of subjects was 38.0 (18.0–97.2) years. The annual seroprevalence of anti-HAV IgG was 53.3%, 53.0%, and 53.1% in 2015, 2016, and 2017, respectively. The median age differed among geographic regions and anti-HAV seroprevalence differed among age groups and geographic regions (P<0.0001). Subjects in their 20’s had a significantly lower rate of anti-HAV IgG-positivity than subjects in their 10’s (odds ratio, [OR] 0.74, 95% CI, 0.69–0.78, P<0.0001), while other age groups had higher rates. Multivariable-adjusted logistic regression analysis showed that women and subjects living in Inchoen, Sejong city, Gangwon province, Gwangju, and North Jeolla province were more likely to be immune to HAV compared to subjects living in Seoul (OR >1.0, P<0.05). Conclusions This study provides basic information about the recent seroprevalence of anti-HAV IgG in the Korean population and contributes to identifying groups at high risk of an HAV epidemic.

Background: Intestinal protozoan infection is one of the main causes of gastrointestinal diseases. Protozoa are usually detected by direct smear microscopy, concentration techniques, or special stains; however, these techniques are labor-intensive and require well-trained technicians. Therefore, molecular techniques involving polymerase chain reaction (PCR) have been developed to satisfy the need for unbiased and rapid analytical methods with high sensitivity and specificity. In this study, the BD MAXTM Enteric Parasite Panel (EPP) (Becton, Dickinson and Company, USA), designed to detect Cryptosporidium parvum and/or hominis, Giardia lamblia, and Entamoeba histolytica, and the AllplexTM Gastrointestinal Parasite Assays (AGPA) (Seegene Inc., Korea), designed to detect Cryptosporidium species, G. lamblia, E. histolytica, Blastocystis hominis, Dientamoeba fragilis, and Cyclospora cayetanensis were compared to determine whether any of these assays could become a useful tool for detecting intestinal protozoan infections in Korea. Methods: We investigated 295 fecal samples using EPP and AGPA. Then we confirmed the positive results with the conventional and nested PCR. Consistent detection by conventional PCR, nested PCR, and one of the multiplex panels was considered “true positive.” Results: Out of 295 samples, 17 were true positives for B. hominis and 2 were true positives for E. histolytica. EPP detected parasites in only two samples owing to its design; however, its true positive detection rate was 100% (2/2). AGPA detected parasites in 24 samples with 79.2% (19/24) true positives. Conclusions The incidence of protozoan, especially B. hominis, infection may be more prevalent than expected. AGPA could be an effective tool for screening protozoan infections.

Background: Prohibitin (PHB) regulates intracellular signal pathways, transcription, and cell cycles. Aberrant expression of the PHB gene is known to be related totumorigenesis, tumor progression, and chronic metabolic and inflammatory diseases. The present study aimed to develop a one-step quantitative reverse transcription PCR (RT-qPCR) kit for quantifying PHB mRNA levels and evaluate its performance in the laboratory. Methods: TaqMan chemistry was used to develop the one-step PHB1 and PHB2 RT-qPCR kit. Normal peripheral blood cells from healthy individuals (N=20) and leukemia cells from patients initially diagnosed with acute myeloid leukemia (AML, N=20), chronic myeloid leukemia (CML, N=13), and acute lymphoid leukemia (ALL, N=7) were enrolled to evaluate the laboratory performance of the kit using commercially available total human RNA controls. Results: The intra-assay and inter-assay precision of the kit developed in this study was less than 2%. The distribution of PHB1 mRNA expression of AML, CML, and ALL was 0.898-0.993 (median: 0.936), 0.817-0.976 (0.918), and 0.844-1.074 (0.973), respectively. The distribution of PHB2 mRNA expression of AML, CML, and ALL was 0.957-1.024 (median: 0.985), 0.988-1.047 (1.002), and 0.937-1.059 (1.004), respectively. The sensitivity, specificity, positive and negative predictive value, and test effectiveness of the developed PHB1 and PHB2 kit were greater than 50% for each parameter. Conclusions Our developed kit would be useful for diagnosing leukemia as well as detecting residual disease. Additionally, this kit could be used for monitoring and conducting molecular pathophysiological studies of obesity, metabolic, and inflammatory diseases.

Background: This study was conducted to evaluate the analytical performance of the SelexOnTM B-type natriuretic peptide (BNP) assay (Osang Healthcare Inc., Korea), a new rapid lateral flow immunoassay for point of care (POC) testing using whole blood. Methods: The imprecision, linearity, and method comparison of SelexOnTM BNP assay were evaluated. Two commercial BNP assays, the ADVIA Centaur® BNP (Siemens Health Care diagnostics Inc., USA) and the Triage® BNP assays (Alere, USA), were included for method comparison using 100 whole blood samples from patients. The reference interval was verified using 120 residual samples from health examination participants. Results: The SelexOn BNP had total CVs of 20.3%, 13.3%, and 10.3% in BNP concentrations of 89.44 pg/mL, 480.71 pg/mL, and 1,201.84 pg/mL of control materials, respectively. Linearity was observed from 56 pg/mL to 1544 pg/mL. The SelexOn BNP (y) regression equation was y=0.9706x-21.68 with Centaur BNP (x) (r=0.930) and y=0.7600x+0.0506 with Triage BNP (x) (r=0.845), respectively. The predicted mean difference (%) of the SelexOn BNP at the clinical decision levels (100 pg/mL) was up to 25% lower than the two comparative methods. The SelexOn BNP levels were below 50 pg/mL in 114 (95%) of the 120 samples. Conclusions The SelexOn BNP using EDTA was developed as a POC test for differential diagnosis or treatment monitoring for acute heart failure. However, clinical decision values must be improved to be compatible with other BNP methods.

Background: To diagnose acute renal failure, creatinine levels in whole blood are typically assessed using point-of-care testing (POCT) methods. The present study aimed to evaluate the performance of a newly developed POCT blood gas analyzer, the ABL90 FLEX PLUS (Radiometer, Denmark), which can measure creatinine in blood. Methods: Precision and linearity of the ABL90 FLEX PLUS were evaluated and compared with those of the Beckman Coulter AU5800 (Beckman Coulter, USA), according to the CLSI guidelines for creatinine measurement performance. Results: For the ABL90 FLEX PLUS, the total imprecision (%CV) levels of two control materials were measured to be 0.0% and 0.8%, while linearity was evaluated, with the R2 value measured to be 0.9993 (0.4-8.4 mg/dL). Compared to the AU5800, the ABL90 FLEX PLUS correlation coefficient (r) was found to be 0.989. The 95% limits of agreement were determined to be -0.649 and 0.643 mg/dL (-18.8% and 17.8%). Conclusions The ABL90 FLEX PLUS exhibited good performance for creatinine test. This indicates that the ABL90 FLEX PLUS can be potentially useful in clinical laboratories.