OBJECTIVE: We investigated the usefulness of shortening of the fetal femur length (FL) and humeral length (HL) to predict Down syndrome at the middle gestation of pregnancy in Korean subjects. METHODS: This retrospective study involved 41 fetuses with Down syndrome and 328 fetuses with normal chromosome between 14+0 and 28+6 weeks of gestation. The expected FL and HL for any biparietal diameter (BPD) was calculated based on the control group data. The odds ratios for measure to expected FL and HL in comparison between normal fetuses and Down syndrome fetuses were calculated. The sensitivities of short FL and HL to predict Down syndrome were analyzed at a fixed false positive rate of 5%. RESULTS: The lengths of femur and humerus long bone for any BPD in Down syndrome group were significantly shorter than the lengths in control group (P<0.001). A low ratio of measured to expected FL and HL increased the risk of fetal Down syndrome (P<0.001). At a fixed false positive rate of 5%, the sensitivities were 21.3% (95% confidence interval [CI] 0.698~0.852, P<0.001) in FL and 29.9% (95% CI 0.773~0.914, P<0.001) in HL. CONCLUSION: Both of short FL and HL are poor marker for Down syndrome at the middle gestation of pregnancy in Korean population though the sensitivity of HL was higher than FL.
Down Syndrome ; Femur ; Fetus ; Humerus ; Odds Ratio ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies

The association of carcinoma and tuberculosis in any organ is rare and in the endometrium is extremely rare. Only a small number of cases of endometrial tuberculosis with coexisting endometrial adenocarcinoma have been reported in the literature. We experienced a case of endometrial tuberculosis with coexisting endometrial adenocarcinoma and report with a brief review of literature.
Adenocarcinoma* ; Endometrium* ; Female ; Tuberculosis*

Fetal teratomas are histologically diverse masses containing variety of tissues foreign to the anatomic site in which they reside. Sacrococcygeal teratomas are the most common and account for 50% of neonatal teratoma. Faciocervical teratomas are rare and accounts for only 5.5% of all neonatal teratoma, having an incidence of only 20,000:1 to 40,000:1 of live births. Immature teratoma was composed of poor differentiated or embryonal tissue which coexisted mature tissue and immature tissue was originated from neuroepithelium. We have experienced a large faciocervical teratoma and present this case with a brief review of literatures.
Incidence ; Live Birth ; Pregnancy* ; Teratoma* ; Ultrasonography*

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants. METHODS: We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples. RESULTS: BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵). CONCLUSIONS: KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.
Biomarkers ; Diagnosis ; Genetic Heterogeneity ; Genome-Wide Association Study ; Humans ; Male ; Mucocutaneous Lymph Node Syndrome ; Polymorphism, Single Nucleotide ; Population Characteristics ; Protein-Tyrosine Kinases

BACKGROUND: Beyond its current function as a rescue therapy in acute respiratory distress syndrome (ARDS), extracorporeal membrane oxygenation (ECMO) may be applied in ARDS patients with less severe hypoxemia to facilitate lung protective ventilation. The purpose of this study was to evaluate the efficacy of extended ECMO use in ARDS patients. METHODS: This study reviewed 223 adult patients who had been admitted to the intensive care units of 11 hospitals in Korea and subsequently treated using ECMO. Among them, the 62 who required ECMO for ARDS were analyzed. The patients were divided into two groups according to pre-ECMO arterial blood gas: an extended group (n=14) and a conventional group (n=48). RESULTS: Baseline characteristics were not different between the groups. The median arterial carbon dioxide tension/fraction of inspired oxygen (FiO2) ratio was higher (97 vs. 61, p<0.001) while the median FiO2 was lower (0.8 vs. 1.0, p<0.001) in the extended compared to the conventional group. The 60-day mortality was 21% in the extended group and 54% in the conventional group (p=0.03). Multivariate analysis indicated that the extended use of ECMO was independently associated with reduced 60-day mortality (odds ratio, 0.10; 95% confidence interval, 0.02–0.64; p=0.02). Lower median peak inspiratory pressure and median dynamic driving pressure were observed in the extended group 24 hours after ECMO support. CONCLUSION Extended indications of ECMO implementation coupled with protective ventilator settings may improve the clinical outcome of patients with ARDS.

BACKGROUND: Beyond its current function as a rescue therapy in acute respiratory distress syndrome (ARDS), extracorporeal membrane oxygenation (ECMO) may be applied in ARDS patients with less severe hypoxemia to facilitate lung protective ventilation. The purpose of this study was to evaluate the efficacy of extended ECMO use in ARDS patients. METHODS: This study reviewed 223 adult patients who had been admitted to the intensive care units of 11 hospitals in Korea and subsequently treated using ECMO. Among them, the 62 who required ECMO for ARDS were analyzed. The patients were divided into two groups according to pre-ECMO arterial blood gas: an extended group (n=14) and a conventional group (n=48). RESULTS: Baseline characteristics were not different between the groups. The median arterial carbon dioxide tension/fraction of inspired oxygen (FiO2) ratio was higher (97 vs. 61, p<0.001) while the median FiO2 was lower (0.8 vs. 1.0, p<0.001) in the extended compared to the conventional group. The 60-day mortality was 21% in the extended group and 54% in the conventional group (p=0.03). Multivariate analysis indicated that the extended use of ECMO was independently associated with reduced 60-day mortality (odds ratio, 0.10; 95% confidence interval, 0.02–0.64; p=0.02). Lower median peak inspiratory pressure and median dynamic driving pressure were observed in the extended group 24 hours after ECMO support. CONCLUSION: Extended indications of ECMO implementation coupled with protective ventilator settings may improve the clinical outcome of patients with ARDS.
Adult ; Anoxia ; Carbon Dioxide ; Extracorporeal Membrane Oxygenation ; Humans ; Intensive Care Units ; Korea ; Lung ; Mortality ; Multicenter Studies as Topic ; Multivariate Analysis ; Oxygen ; Respiration, Artificial ; Respiratory Distress Syndrome, Adult ; Retrospective Studies ; Ventilation ; Ventilators, Mechanical

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants. METHODS: We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples. RESULTS: BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵). CONCLUSIONS KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.