The authors have experienced 3 Rho(D) negative siblings from Rho(D) positive parents. ABO grouping and typing were carried out because the parents wanted their and children's blood types. On the five major Rh antigen(D, C, c, E, e) testing, the phenotypes of the both parents were CcDe, and those of their 3 siblings were cde. We can suspect the possible genotypes on the basis of the frequencies in Korean, both parents are CDe/cde and their 2 daughters and one son are cde/cde.
Genotype ; Humans ; Nuclear Family ; Parents* ; Phenotype ; Siblings*

Apolipoprotein E-epsilon4(APOE4) is recently known as a susceptibility gene or risk factor associated with late-onset Alzheimer's disease (AD). Association between APOE4 and probable AD was determined in Korean population. Twenty patients met the NINCDS-ADRDA probable AD criteria (M:F=7:13, Mean age: 70.1 yr)were compared with 146 controls without dementia (M:F=83:63, Mean age:63.6 yr). APOE genotype was determined by polymerase chain reaction and allele specific hybridization technique. APOE4 allele frequency (0.33 vs. 0.11, p<.01) and proportion of carriers with APOE4(60% vs. 19%, p<.01) were significantly increased in patient group. APOE4 genotype is also associated with late-onset sporadic AD in Korean, and APOE genotyping may be useful for differential diagnosis of AD for patients with dementia.
Alleles ; Alzheimer Disease* ; Apolipoprotein E4 ; Apolipoproteins E ; Apolipoproteins* ; Dementia ; Diagnosis, Differential ; Gene Frequency ; Genotype* ; Humans ; Korea* ; Polymerase Chain Reaction ; Risk Factors

Mediastinal teratoma is one of the most common lesions found in the anterior mediastinum, accounting for 8~13% of all mediastinal tumors. This tumor is incidentally detected by routine chest roentgengography, but pericardial perforation or pleural effusion occurs rarely. In our patient cardiac tamponade was developed due to anterior chest wall contusion, we confirmed the anterior mediastinal tumor. Vital signs were stabilized after the pericardiocentesis, and the patient underwent the tumor resection in the anterior mediastinum for a definite treatment. On histologic examination, the tumor revealed cystic structures composed of mature squamous epithelium, pilosebaceous glands, mature fat tissue, gastrointestinal mucosa, respiratory epithelium, and pancreatic tissues.
Cardiac Tamponade* ; Contusions ; Epithelium ; Humans ; Mediastinal Cyst* ; Mediastinum ; Pericardiocentesis ; Pleural Effusion ; Respiratory Mucosa ; Teratoma* ; Thoracic Wall ; Thorax ; Vital Signs

Metallic fixations devices are widely used in the surgical management of fractures and dislocations of shoulder. It is known that Kirschner wire (K-wire) may migrate into the thoracic cavity or other organs may occur. We report a case in which a K-wire previously placed in the clavicle migrated into the thoracic cavity without causing any trauma to the major vascular structures and was removed successfully by thoracoscopic surgery.
Clavicle ; Dislocations ; Foreign-Body Migration ; Shoulder ; Thoracic Cavity* ; Thoracoscopy*

A 70-year-old man with aphasia due to ischemic cerebral events by thromboemboli was admitted. The cause of thromboemboli was investigated, and transesophageal echocardiography and chest MRI revealed an encapsulated cystic mass in the right atrium, not circulating. It was a homogeneous cystic mass suggesting a tumor (Myxoma) rather than thrombus. Right atrial mass was resected together with partial atrial septum under the normothermic cardiopulmonary bypass. Histologically it was an atrial septal aneurysm, closed on itself, filled with blood. We report this rarely seen case with a review of the literatures.
Aged ; Aneurysm* ; Aphasia ; Atrial Septum ; Cardiopulmonary Bypass ; Echocardiography, Transesophageal ; Heart Atria ; Heart Neoplasms ; Heart Septum ; Humans ; Magnetic Resonance Imaging ; Thorax ; Thrombosis

Systemic lupus erythemotosus (SLE) is an autoimmune disorder with dermal, renal, and cardiac manifestations. It frequently has cardiovascular complications such as pericarditis, myocarditis, and valvular heart diseases. Valvular heart diseases in SLE comes mainly in the form of mitral or aortic insufficiencies. Report of aortic stenosis is extremely rare. Surgical treatments of valvular heart disease in SLE are not done frequently because of complications in other organs. Aortic stenosis developed in a 59 year-old woman with SLE, and aortic valve replacement was done successfully.
Aortic Valve ; Aortic Valve Stenosis* ; Endocarditis ; Female ; Heart Valve Diseases ; Humans ; Lupus Erythematosus, Systemic* ; Middle Aged ; Myocarditis ; Pericarditis

BACKGROUND AND OBJECTIVES: Myocardial bridge is congenital coronary anomaly and cause myocardial ischemia by milking effect. The general study of myocardial bridge is to be weak, so we examined a clinical study of myocardial bridge. MATERIALS AND METHOD: This study included 36 bridge cases out of 1048 patients who underwent coronary angiography due to chest pain from Jan. 1993 to Jul. 1998. Angiographic film, medical records and interview by telephone were reviewed retrospectively. Total follow-up duration was mean 27 months (1 month to 62 months). RESULTS: Incidence of myocardial bridges diagnosed by angiography was 3.4%. Angiography showed normal in 32, 1 vessel disease in 3 and 2 vessel disease in one patient. Mean reference diameter was 2.97+/-0.36mm, bridge diameter was 2.75+/-0.33mm in diastole, 1.12+/-0.47mm in systole. Myocardial bridge length was 12.50+/-7.44mm, mean % diameter stenosis was 59.26+/-17.7%. Myocardial bridge location was 80.6% in mid LAD and 13.9% in mid & distal LAD and 5.5% in distal LAD. There was no statistically significant correlation with sex, risk factor of coronary heart disease, resting electrocardigraphy, treadmill test, diameter and angulation of coronary artery, clinical symptom in the severity of myocardial bridge. But the severity of myocardial bridge correlated with bridge length(r=.5033). CONCLUSION: Clinical outcomes of bridge patients were relatively good during the mean follow up periods of 27 months. Myocardial bridge was more severe in younger age and longer bridge length.
Angiography ; Chest Pain ; Constriction, Pathologic ; Coronary Angiography ; Coronary Disease ; Coronary Vessels ; Diastole ; Exercise Test ; Follow-Up Studies ; Humans ; Incidence ; Medical Records ; Milk ; Myocardial Ischemia ; Retrospective Studies ; Risk Factors ; Systole ; Telephone

Apraxia of speech (AOS) is a speech disorder due to an impaired ability to program the positioning of the speech musculature and the sequencing of muscle movements. It differs from dysarthria because speech errors are inconsistent depending on the locus of the sound. We report a 66-year-old man who presented with AOS which evolved into frontotemporal dementia 5 years later. Initial neuropsychological test showed mainly buccofacial apraxia and frontal lobe dysfunction. Brain FDG-PET disclosed hypometabolism in frontotemporal region.
Aged ; Apraxias* ; Brain ; Dysarthria ; Frontal Lobe ; Frontotemporal Dementia* ; Humans ; Neuropsychological Tests

During long-term anticoagulation treatment with using heparin in a pregnant patient with a mechanical mitral prosthesis, we observed several anticoagulation-related complications, including repeated prosthetic valve thrombosis. This was found to be caused by heparin resistance due to an anti-thrombin III deficiency. Thrombolytic therapy using urokinase or tissue plasminogen activator (tPA) was successful and safe for her as well as her baby.
Anticoagulants ; Antithrombin III ; Heparin ; Humans ; Pregnancy ; Prostheses and Implants ; Prosthesis Failure ; Thrombolytic Therapy ; Thrombosis ; Tissue Plasminogen Activator ; Urokinase-Type Plasminogen Activator

BACKGROUND: We evaluated the performance of the AdvanSure MDR-TB GenoBlot Assay kit (AdvanSure MDR-TB, LG Life Science, Korea) to detect mutations related to rifampin (RFP)- and isoniazid (INH)-resistant Mycobacterium tuberculosis complex in respiratory specimens. METHODS: From February 2010 to June 2010, a total of 542 M. tuberculosis clinical isolates were collected from pulmonary tuberculosis patients in six university hospitals across Korea. We analyzed the conventional drug susceptibility testing (DST) and compared the results with those of the AdvanSure MDR-TB. RESULTS: Compared with the conventional DST, the overall agreement rates, sensitivity, and specificity were 98.2% (532/542), 84.6% (33/39), and 99.2% (499/503), respectively, for RFP resistance and 96.1% (521/542), 79.7% (59/74), 98.7% (462/468), respectively, for INH resistance. The three common rpoB mutations were rpoB S531L (53.8%), rpoB D516V (15.4%) and rpoB H526R (7.7%) in RFP-resistant strains. For INH resistance, the katG S315T mutation (58.1%) was the most common, followed by inhA C-15T (23.0%) and katG S315N (4.1%). CONCLUSION: The AdvanSure MDR-TB showed high concordance with the conventional DST and would be helpful for early detection of RFP and INH resistance, although it requires improved sensitivity.
Biological Science Disciplines ; Hospitals, University ; Humans ; Isoniazid ; Korea ; Mycobacterium ; Mycobacterium tuberculosis ; Rifampin ; Sensitivity and Specificity ; Tuberculosis ; Tuberculosis, Pulmonary