Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.
Cytogenetic Analysis ; Cytogenetics ; Female ; Humans ; Intellectual Disability ; Karyotype

We tested the hypothesis that angiotensin-converting enzyme (ACE) and angiotensinogen gene polymorphism influence the incidence, development and outcome of preeclampsia. Subjects were recruited from 90 Korean patients with preeclampsia during pregnancy and 98 age-matched controls. After isolation of DNA, polymerase chain reactions (PCR) were carried out to detect polymorphism of the ACE and angiotensinogen. M235T and T174M genotypes of angiotensinogen were determined by digestion with restriction enzyme endonuclease Tth 111-I and NCo I, respectively. The frequency of DD genotype was significantly greater in preeclampsia (0.36) than in controls (0.14) (p<0.05). The frequency of D allele was 0.55 in preeclampsia and 0.40 in controls (p<0.05). There were no differences in the onset of preeclampsia and pregnancy outcomes according to the ACE genotypes. There was no difference in the frequency of a allele of angiotensinogen M235T between the groups (0.79:0.78 in preeclampsia : controls). The frequency of T allele of angiotensinogen T174M gene was slightly increased, but not significantly, in preeclampsia (0.11) than in controls (0.07). In a multivariate analysis, only ACE genotype was associated with the development of preeclampsia (beta=0.27, p=0.05). In conclusion, a molecular variant of ACE, but not angiotensinogen, gene is associated with preeclampsia in Korean women.
Adult ; Angiotensinogen/*genetics ; Female ; Gene Frequency ; Genotype ; Human ; Korea ; Peptidyl-Dipeptidase A/*genetics ; *Polymorphism (Genetics) ; Pre-Eclampsia/*genetics ; Pregnancy

Background: The most important aspect of a retrospective cohort study is the operational definition (OP) of the disease. We developed a detailed OP for the detection of sodiumglucose cotransporter-2 inhibitors (SGLT2i) related to diabetic ketoacidosis (DKA). The OP was systemically verified and analyzed. Methods: All patients prescribed SGLT2i at four university hospitals were enrolled in this experiment. A DKA diagnostic algorithm was created and distributed to each hospital;subsequently, the number of SGLT2i-related DKAs was confirmed. Then, the algorithm functionality was verified through manual chart reviews by an endocrinologist using the same OP. Results: A total of 8,958 patients were initially prescribed SGLT2i. According to the algorithm, 0.18% (16/8,958) were confirmed to have SGLT2i-related DKA. However, based on manual chart reviews of these 16 cases, there was only one case of SGLT2i-related DKA (positive predictive value = 6.3%). Even after repeatedly narrowing the diagnosis range of the algorithm, the effect of a positive predictive value was insignificant (6.3–10.0%, P > 0.999). Conclusion Owing to the nature of electronic medical record data, we could not create an algorithm that clearly differentiates SGLT2i-related DKA despite repeated attempts. In all retrospective studies, a portion of the samples should be randomly selected to confirm the accuracy of the OP through chart review. In retrospective cohort studies in which chart review is not possible, it will be difficult to guarantee the reliability of the results.

BACKGROUND: When patients with diabetes mellitus (DM) are first referred to a hospital from primary health care clinics, physicians have to decide whether to administer an oral hypoglycemic agent (OHA) immediately or postpone a medication change in favor of diabetes education regarding diet or exercise. The aim of this study was to determine the effect of diabetes education alone (without alterations in diabetes medication) on blood glucose levels. METHODS: The study was conducted between January 2009 and December 2013 and included patients with DM. The glycosylated hemoglobin (HbA1c) levels were evaluated at the first visit and after 3 months. During the first medical examination, a designated doctor also conducted a diabetes education session that mainly covered dietary management. RESULTS: Patients were divided into those who received no diabetic medications (n=66) and those who received an OHA (n=124). Education resulted in a marked decrease in HbA1c levels in the OHA group among patients who had DM for <1 year (from 7.0%±1.3% to 6.6%±0.9%, P=0.0092) and for 1 to 5 years (from 7.5%±1.8% to 6.9%±1.1%, P=0.0091). Those with DM >10 years showed a slightly lower HbA1c target achievement rate of <6.5% (odds ratio, 0.089; P=0.0024). CONCLUSION: For patients who had DM for more than 5 years, higher doses or changes in medication were more effective than intensive active education. Therefore, individualized and customized education are needed for these patients. For patients with a shorter duration of DM, it may be more effective to provide initial intensive education for diabetes before prescribing medicines, such as OHAs.
Blood Glucose ; Diabetes Mellitus ; Diet ; Education* ; Health Educators ; Hemoglobin A, Glycosylated ; Humans ; Primary Health Care

BACKGROUND: The increasing use of electronic medical record (EMR) systems for documenting clinical medical data has led to EMR data being increasingly accessed for clinical trials. In this study, a database of patients who were prescribed statins for the first time was developed using EMR data. A clinical data mart (CDM) was developed for cohort study researchers. METHODS: Seoul St. Mary's Hospital implemented a clinical data warehouse (CDW) of data for ~2.8 million patients, 47 million prescription events, and laboratory results for 150 million cases. We developed a research database from a subset of the data on the basis of a study protocol. Data for patients who were prescribed a statin for the first time (between the period from January 1, 2009 to December 31, 2015), including personal data, laboratory data, diagnoses, and medications, were extracted. RESULTS: We extracted initial clinical data of statin from a CDW that was established to support clinical studies; the data was refined through a data quality management process. Data for 21,368 patients who were prescribed statins for the first time were extracted. We extracted data every 3 months for a period of 1 year. A total of 17 different statins were extracted. It was found that statins were first prescribed by the endocrinology department in most cases (69%, 14,865/21,368). CONCLUSION: Study researchers can use our CDM for statins. Our EMR data for statins is useful for investigating the effectiveness of treatments and exploring new information on statins. Using EMR is advantageous for compiling an adequate study cohort in a short period.
Cohort Studies ; Data Accuracy ; Diagnosis ; Electronic Health Records ; Endocrinology ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Oxidoreductases* ; Prescriptions ; Seoul

PURPOSE: Dendritic cell (DC) vaccination for melanoma was introduced because melanoma carries distinct tumor-associated antigens. The purpose of this study was to investigate the efficacy and safety of DC vaccination for melanoma in Korea. MATERIALS AND METHODS: Five patients with stage IV and one with stage II were enrolled. Autologous monocyte-derived DCs (MoDCs) were cultured and pulsed with tumor-lysate, keyhole limpet hemocyanin, and cytokine cocktail for mature antigen-loaded DC. DC vaccination was repeated four times at 2-week intervals and 2-4x107 DC were injected each time. RESULTS: Reduced tumor volume was observed by PET-CT in three patients after DC vaccination. Delayed type hypersensitivity responses against tumor antigen were induced in five patients. Tumor antigen-specific IFN-gamma-producing peripheral blood mononuclear cells were detected with enzyme-linked immunosorbent spot in two patients. However, the overall clinical outcome showed disease progression in all patients. CONCLUSION: In this study, DC vaccination using tumor antigen-loaded, mature MoDCs led to tumor regression in individual melanoma patients. Further standardization of DC vaccination protocol is required to determine which parameters lead to better anti-tumor responses and clinical outcomes.
Dendritic Cells/*cytology ; Enzyme-Linked Immunosorbent Assay ; Flow Cytometry ; Humans ; Immunotherapy/*methods ; Melanoma/*therapy ; Monocytes/*cytology ; Treatment Outcome