It is unclear how severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) affects pregnant women and their fetuses or newborns. We report two infants born to mothers with coronavirus disease 2019 (COVID-19) in Korea. The first case was a healthy female baby born at 39 +3 weeks' gestation from a mother diagnosed with COVID-19. The second case was a female baby born at 38 +0 weeks' gestation. The newborn in the second case had symptoms of respiratory distress immediately after birth, and nasal continuous positive airway pressure support was applied for 8 hours. Real-time polymerase chain reaction test results for SARSCoV-2 using amniotic fluid, neonatal nasopharyngeal and oropharyngeal swabs, blood, urine, stool, and rectal swab were all negative in the 1st and 2nd days of life in both cases. Placental pathology showed acute necrotizing deciduitis and intervillous fibrin deposition with acute intervillositis. Although clinical evidence of vertical transmission was not found in our cases, with the possibility of placental inflammation, close monitoring of SARS-CoV-2 positive mothers and their newborn is required.

Background: Due to the COVID-19 pandemic, from 2020, many pharmaceutical companies have developed vaccines. To determine the efficacy of AstraZeneca's and Pfizer's vaccines, which were the first and second vaccines to be approved in Korea, respectively, we developed a method to measure their antibody-generating efficacies using immunology analyzers and a rapid antibody test available in Korea. Methods: The antibody-stimulating efficacies of the Pfizer and AstraZeneca vaccines were evaluated using Centaur® XPT SARS-CoV-2 (Siemens Healthineers, Germany), Elecsys® AntiSARS-CoV-2 S (Roche Diagnostics, Germany), and STANDARD F SARS-CoV-2 nAb FIA (SD Biosensor, Korea). Healthcare workers were enrolled in two groups: the Pfizer (121) and AstraZeneca (117) groups. Antibody levels were measured pre-vaccination, three weeks after vaccination, and 16 weeks after vaccination. Results: The Pfizer group comprised 41 males and 80 females, while the AstraZeneca group comprised 38 males and 79 females. Antibody results were analyzed after excluding four individuals who had recovered from COVID-19. Between weeks 3 and 16, there was no significant difference (P= 0.5, 1.0) between the results of the Roche and Siemens antibody tests in the Pfizer vaccine group. However, the SD biosensor results comparing with the Roche and Siemens antibody tests at three weeks after the initial vaccination showed a significant difference (P < 0.0001). Analysis of the Roche antibody test results before, at three weeks, and at 16 weeks after the administration of the Pfizer and AstraZeneca vaccines revealed a statistically significant difference between before and at three weeks after the first injection (P < 0.0001). Conclusion After two doses of the Pfizer and AstraZeneca vaccines, antibody formation was above the 90 th percentile of the measurement range in all subjects.

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.

BACKGROUND: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by GC practitioners in Korean hospitals. METHODS: An electronic survey was designed and conducted in 52 certified laboratory physicians belonging to the Korean Society of Laboratory Medicine, from August to September 2018. The questionnaires addressed three main categories of information: (1) current status of GC in hospitals; (2) essential qualifications of GC practitioners; and (3) challenges and perspectives for GC. Fisher's exact test was applied to analyze categorical data. RESULTS: Among a total of 52 participants who initially responded, 12 (23.1%) were performing GC either by direct or indirect care. GC clinics were opened regularly for one (33.3%) or more than three sessions (25.0%) per week; most respondents spent more time for pre-visit activities than in-person visits, both for a initial visit patient and for a follow-up visit patient. All laboratory physicians provided genetic information to their patients. Most recommended family genetic testing when indicated (91.7%), discussed disease management (75.0%), and/or ordered additional genetic testing (58.3%), and some referred patients to other specialists (8.3%). CONCLUSIONS Both patients and laboratory physicians concede the advantage of GC performed by clinical geneticists; however, the practice of GC involves several challenges and raises some concerns. The cost and support required to implement GC need to be addressed in order to provide qualified GC in Korea.

Background: Hematologic malignancies have a relatively lower prevalence than major solid cancers, although the incidence of hematologic malignancies has significantly increased in recent years. However, understanding the current status of hematologic malignancy is significantly challenging because basic data regarding this malignancy are insufficient in the Korean population. Methods: From 2005 to 2015, the status of seven codes of hematologic malignancy, containing 24 subcodes defined using a classification defined by the Korean Classification of Disease-6, was analyzed. The number of new patients, crude incidence rate, prevalence rate, and age-standardized incidence rate were also investigated. Results were analyzed based on National Health Insurance Service (NHIS) data. Results: The number of new patients showed an overall increase over time and a rate of increase up to 56.7% for 10 years. The number of male patients was higher than that of female patients, with the majority of patients aged greater than 60 years. The incidence and prevalence rates have increased steadily. Conclusions Consistent with the previous studies, this study might be useful to understand the current status of hematologic malignancy and might contribute to the improvement of national public healthcare.

Background: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea. Methods: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database. Results: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies. The estimated age-standardized incidence rate (ASR) of HA and HB was 1.78–3.15/100,000 and 0.31–0.51/100,000, respectively. That of vWD was 1.38–1.95/100,000. The estimated ASR of HA showed increase over time though the number of new patients did not increase. Most patients with congenital bleeding disorders were younger than 19 years old (47.8%), and most were registered in Gyeonggi (22.1%) and Seoul (19.2%). Conclusion This is the first nationwide population-based study of congenital bleeding disorders in Korea. This study provides data that will enable more accurate estimations of patients with vWD. This information will help advance the comprehensive care of congenital bleeding disorders. We need to continue to obtain more detailed information on patients to improve the management of these diseases.

No abstract available.
Agglutinins ; Blood Cell Count

BACKGROUND: JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and for prognostic prediction. Droplet digital PCR (ddPCR) can provide accurate and reproducible quantitative analysis of DNA. This study was designed to verify the correlation of ddPCR with pyrosequencing results in the diagnosis of MPN and to investigate clinical implications of the mutational burden. METHODS: Peripheral blood or bone marrow samples were obtained from 56 patients newly diagnosed with MPN or previously diagnosed with MPN but not yet indicated for JAK2 inhibitor treatment between 2012 and 2016. The JAK2 V617F mutation was detected by pyrosequencing as a diagnostic work-up. The same samples were used for ddPCR to determine the correlation between assays and establish a detection sensitivity cut-off. Clinical and hematologic aspects were reviewed. RESULTS: Forty-two (75%) and 46 (82.1%) patients were positive for JAK2 V617F by pyrosequencing and ddPCR, respectively. The mean mutated allele frequency at diagnosis was 37.5±30.1% and was 40.7±31.2% with ddPCR, representing a strong correlation (r=0.9712, P < 0.001). Follow-up samples were available for 12 patients, including eight that were JAK2 V617F-positive. Of these, mutational burden reduction after treatment was observed in six patients (75%), consistent with trends of hematologic improvement. CONCLUSIONS: Quantitative analysis of the JAK2 V617F mutation using ddPCR was highly correlated with pyrosequencing data and may reflect the clinical response to treatment.
Bone Marrow ; Diagnosis ; DNA ; Follow-Up Studies ; Gene Frequency ; Humans ; Polymerase Chain Reaction*

No abstract available.
Diagnosis* ; Humans ; Intellectual Disability* ; Multiplex Polymerase Chain Reaction* ; Smith-Magenis Syndrome*