Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer / 부인종양

Objective@#Familial cancer appears at a young age and its incidence is increasing. About 12% of familial ovarian cancer cases are associated with BRCA1/2 mutations (BRCAm). In this study, we investigated BRCA1 methylation may predict ovarian cancer in those with a family history of cancer (FHC) but without BRCA1/2 mutations (BRCAwt). @*Methods@#Using peripheral blood DNA from 55 subjects without a history of cancer [cancer(−)] and 52 ovarian cancer patients, we examined BRCA1 promoter methylation through bisulfite sequencing of the promoter and expressed the results as the cumulative methylation index. Then, we evaluated the BRCA1 promoter methylation according to BRCA1/2 germline mutations. @*Results@#BRCA1 methylation was more prevalent in the BRCAm cancer(−) group than in the BRCAwt cancer(−) group and ovarian cancer patients (p=0.031 and p=0.019, respectively). In the BRCAwt cancer(−) group, BRCA1 methylation was more prevalent in those with an FHC than in those without one and in the BRCAm cancer(−) group with an FHC (p=0.001 and p<0.001, respectively). @*Conclusion@#Our data suggest a predictive role of BRCA1 methylation profile for ovarian cancer in those without a history of cancer but with an FHC. BRCA1 methylation has important implications for diagnostic and predictive testing of those with BRCAwt cancer(−) status with FHC.

Double-Balloon Enteroscopy in Elderly Patients: Is It Safe and Useful?

BACKGROUND/AIMS: Providers may be hesitant to perform double-balloon enteroscopy (DBE) in the elderly because the increased number of co-morbidities in this population poses a greater risk of complications resulting from sedation. There are limited data on the use of DBE in the elderly. Here, we assessed the safety and efficacy of DBE in the elderly compared to those in younger patients. METHODS: We retrospectively analyzed the medical records of 158 patients who underwent 218 DBEs. Patients were divided into an elderly group (age > or =65 years; mean 71.4+/-5.4; n=34; 41 DBEs) and a younger group (age <65 years; mean 39.5+/-13.5; n=124; 177 DBEs). RESULTS: In both groups, the most common indication for DBE was obscure gastrointestinal bleeding. Mucosal lesions (33.3% vs. 60.9%; P=0.002) were the most common finding in both groups, followed by tumors (30.8% vs. 14.1%; P=0.036). The elderly were more likely to receive interventional therapy (51.3% vs. 23.5%; P=0.001). The diagnostic yield of DBE was slightly higher in the elderly group (92.3% vs. 86.5%; P=0.422), but was not statistically significant. The therapeutic success rate of DBE was 100% in the elderly group compared to 87.5% in the younger group (P=0.536). The overall DBE complication rate was 1.8% overall, and this rate did not differ significantly between the groups (2.6% vs. 1.7%; P=0.548). CONCLUSIONS: DBE is safe and effective in the elderly, and has a high diagnostic yield and high therapeutic success rate.

A Case of Severe Pulmonary Thromboembolism in a Young Male With Klinefelter Syndrome

A young male patient diagnosed with Klinefelter syndrome was admitted to our hospital via the emergency room with chief complaints of acute chest pain and dyspnea. Pulmonary thromboembolism was diagnosed from his chest CT images. His symptoms improved after he underwent thrombolysis and anticoagulation treatment. Klinefelter syndrome has a tendency towards hypercoagulability due to hormonal imbalance and one or more inherited thromophilic factors. Thus, Klinefelter syndrome patients with a past medical history of venous thromboembolism require continuous oral anticoagulation therapy for a period of at least six months.

Association of Coronary Artery Disease and Osteoporotic Vertebral Fracture in Korean Men and Women

BACKGROUND: The association of osteoporotic vertebral fracture or osteoporosis with coronary artery disease (CAD) was investigated in Korean men and women. METHODS: Four hundred consecutive postmenopausal women and men aged 50 years and older, undergoing coronary angiography, were enrolled for the evaluation of established or suspected coronary artery disease. CAD was diagnosed if there was narrowing of > 50% diameter in one or more major coronary artery. Morphometric vertebral fracture was assessed using lateral thoracic and lumbar spine radiographs. Bone mineral density was performed using dual-energy x-ray absorptiometry. RESULTS: Of the 400 subjects in the study (mean age of 61.9 +/- 11.6 years), 256 patients had CAD. Vertebral fracture was observed in 94 (23.5%) patients. There was no difference in vertebral fracture according to the presence or absence of CAD. In logistic regression analysis, vertebral fracture was not significantly associated with CAD after adjustment for multiple risk factors. Although women had lower BMD at any given site than men, BMD was not associated with the presence or absence of CAD among 191 patients. CONCLUSION: Our study demonstrated that osteoporotic vertebral fracture or osteoporosis was not associated with coronary artery disease in Korean men and women.

Recurrence of Coronary-Subclavian Steal Syndrome After Successful Angioplasty of Malfunctioning Arteriovenous Fistula

We report a case of coronary-subclavian steal syndrome, which had been masked by a malfunctioning hemodialysis access vessel and then reappeared after a successful angioplasty of multiple stenoses in the arteriovenous fistula of the left arm in a 61-year-old man. This case suggests that coronary-subclavian steal syndrome should be considered before a coronary artery bypass grafting surgery using internal mammary artery conduit is done, especially when hemodialysis using the left arm vessels is expected.

A Case of Eosinophilic Bronchitis Associated with Tracheal Diverticulum / 영남의대학술지

Tracheal diverticulum is relatively rare. It results from congenital or acquired weakness of the tracheal wall. Most cases are asymptomatic, but when symptoms are present, they are usually nonspecific. A 54-year-old man complained of sputum lasting for several months. Chest computed tomography showed an air-containing cystic structure in the trachea. Fiberoptic bronchoscopy demonstrated ostium arising from the right posterolateral wall at the trachea. Reported herein is a case of eosinophilic bronchitis associated with tracheal diverticulum.

A Case of Pulmonary Alveolar Microlithiasis / 결핵및호흡기질환

Pulmonary alveolar microlithiasis is a rare disease of unknown etiology that is characterized by the presence of calcific concentrations in the alveolar spaces. The radiographic appearance is pathognomonic. Plain chest radiographs show a white lung or sandstorm lung consisting of fine sand like microcalcifications diffusely scattered throughout both lungs with a higher density at the lung bases. We now report the case of a 67-year-old male whose diagnosis was based on characteristic findings on a chest X-ray and a high-resolution computed tomography scan.

Parameters Measuring Beta-Cell Function Are Only Valuable in Diabetic Subjects with Low Body Mass Index, High Blood Glucose Level, or Long-Standing Diabetes

PURPOSE: The aim of this study was to identify the most precise and clinically practicable parameters that predict future oral hypoglycemic agent (OHA) failure in patients with type 2 diabetes, and to determine whether these parameters are valuable in various subgroups. MATERIALS AND METHODS: We took fasting blood samples from 231 patients for laboratory data and standard breakfast tests for evaluation of pancreatic beta-cell function. Hemoglobin A1c (HbA1c) levels were tested, and we collected data related to hypoglycemic medications one year from the start date of the study. RESULTS: Fasting C-peptide, postprandial insulin and C-peptide, the difference between fasting and postprandial insulin, fasting beta-cell responsiveness (M0), postprandial beta-cell responsiveness (M1), and homeostasis model assessment-beta (HOMA-B) levels were significantly higher in those with OHA response than in those with OHA failure. The area under the curve (AUC) of the receiver operating characteristic (ROC) measured with postprandial C-peptide to predict future OHA failure was 0.720, and the predictive power for future OHA failure was the highest of the variable parameters. Fasting and postprandial C-peptide, M0, and M1 levels were the only differences between those with OHA response and those with OHA failure among diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes. CONCLUSION: In conclusion, postprandial C-peptide was most useful in predicting future OHA failure in type 2 diabetic subjects. However, these parameters measuring beta-cell function are only valuable in diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes.

Late Late Stent Thrombosis after Intracoronary Brachytherapy: Learning from Brachytherapy Experiences in the Drug-Eluting Stent Era

Stent thrombosis is generally a fatal complication after percutaneous coronary intervention. Combined antiplatelet therapy is recommended to prevent stent thrombosis in those patients who have undergone stenting. However, there are conflicting opinions on the appropriate duration of instituting antiplatelet treatment, especially after intracoronary radiation therapy or drug-eluting stent implantation, which are two situations closely associated with an increased risk of stent thrombosis. We report here on 2 cases of late stent thrombosis that occurred despite giving combined antiplatelet therapy, and these maladies developed more than 4 years after intracoronary brachytherapy.

A Case of Isolated Congenital Right Ventricular Diverticulum in Adult

Congenital right ventricular diverticulum is extremely rare and is associated with other congenital cardiac anomalies. It functionally behaves like an accessory ventricular chamber which contracts synchronously with the normal ventricles. Only dozens of patients with right ventricular diverticulum have been reported in literature worldwide and one case in Korea. An apical right ventricular diverticulum occurs in patients with thoracoabdominal midline defects or abnormalities of the cardiac position. However, an antero-superior diverticulum is usually associated with other congenital cardiac defects, such as a ventricular septal defect, tetralogy of Fallot, double outlet right ventricle, and pulmonary stenosis. We report a 69-year-old woman with a congenital right ventricular diverticulum without associated cardiac anomalies. The right ventricular diverticulum was diagnosed by echocardiography, right ventriculography, and cardiac MRI.