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.
Diagnosis* ; Humans ; Intellectual Disability* ; Multiplex Polymerase Chain Reaction* ; Smith-Magenis Syndrome*

No abstract available.
Agglutinins ; Blood Cell Count

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.

No abstract available.
Adolescent ; Asian Continental Ancestry Group/*genetics ; Child ; Exons ; Factor XI/*genetics ; Factor XI Deficiency/*diagnosis/genetics ; Female ; Genetic Testing ; Genotype ; Heterozygote ; Humans ; Male ; Mutation, Missense ; Partial Thromboplastin Time ; Pedigree ; Republic of Korea ; Sequence Analysis, DNA

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

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.

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.

Behcet's disease is characterized by recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesions. Thrombosis associated with vascular inflammation in patients with Behcet's disease presents various clinical symptoms. Warfarin is usually administered for treatment of thrombosis. However, warfarin can interact with many medications that cause various problems. A 43-year-old woman with Behcet's disease presented with a swollen right leg. Deep vein thrombosis (DVT) was confirmed, and treated with warfarin. Due to exacerbation of Behcet's disease, she received azathioprine along with warfarin. Subsequently, the international normalized ratio (INR) decreased and DVT was exacerbated. Despite an increase in the warfarin dose, the patient did not reach the target INR. After discontinuation of azathioprine, DVT improved and the warfarin dose was decreased. There were no specific findings associated with a hypercoagulable status. This finding suggests the interaction of azathioprine and warfarin. Therefore, clinicians should be cautious regarding the possibility of drug interactions between azathioprine and warfarin.
Adult ; Azathioprine* ; Drug Interactions ; Female ; Humans ; Inflammation ; International Normalized Ratio ; Leg ; Skin ; Stomatitis, Aphthous ; Thrombosis ; Ulcer ; Uveitis ; Venous Thrombosis ; Warfarin*