Down syndrome is the most common autosomal chromosomal abnormality characterized by mental and growth retardation, and by various typical features including prominent epicanthal fold, oblique palpebral fissure, flat nasal bridge, short and broad hand, wide toe interspace, etc. The overall incidence has been shown to be 1:800 deliveries, increasing with advancing maternal age. However, twin cases are extremely rare, and thus far only 500 cases were reported worldwide. We have recently observed 10-day-old male monozygotic twins with Down syndrome, born to a mother of 30 years of age with one normal child. Both have VSD confirmed by 2D-echocardiography, in addition to various typical features. Cytogenetic examination revealed that both have karyotypes of 47, XY, +21. This is the first report in Korea as the authors are aware of.
Child ; Chromosome Aberrations ; Cytogenetics ; Down Syndrome ; Hand ; Humans ; Incidence ; Incontinentia Pigmenti* ; Karyotype ; Korea ; Male ; Maternal Age ; Mothers ; Toes ; Twins, Monozygotic

No abstract available.
Arthrogryposis*

PURPOSE: The aim of this study is to improve the integrative course for internship by evaluating and analyzing the questionnaire results. METHODS: After the 10 times of integrative course implemented in 2002, the questionnaires were asked to the 43 interns working in university hospital (27 interns replied) located in Inchon. The item of the questionnaires were relevance of the integrative course, pertinence of the subject matters, usefulness of the integrative course, subjects to be added to the integrative course, subjects that must included in the next integrative course, subject most helpful, subjects least helpful, and suggestions to the integrative course. RESULTS: The ratio of the positive answer to the numbers of the lecture times, relevance of the subject matters and usefulness of the integrative course were high. The subject most helpful and must included in the next integrative course was "Usage of antibiotics" from Department of Infection. The subjects least helpful were "Basic urologic procedure" and "Professionalism of the young physicians". This results suggests that whether the course or subject matter is related to the real clinical setting or not is important. Almost all interns want not being interrupted during the lecture time. CONCLUSION: Because almost all interns are tended to evaluate positively, the integrative course for the internship seems to be successful. The course should be organized to help the clinical experience of interns.
Incheon ; Internship and Residency* ; Surveys and Questionnaires

To investigate the relationship of the density, thickness of lens nucleus and cortex with phacoemulsification time, we measured the preoperative density and length of lens nucleus and cortex of 100 eyes with a Scheimpflug camera. We performed phacoemulsification on the same phacoemulsification technique using a phacoemulsifier aspirator by the same surgeon. The preoperative mean values of the density of lens nucleus and cortex were 127. 09+/-57.44 and 30. 33+/-15. 24, respectively. The mean values of the thickness for both were 3.05+/-0.42mm and 0.65+/-0.17mm, respectively. The mean value of phacoemulsification time was 92.68+/-56.98 seconds. The phacoemulsification time was increased significantly as the density of lens nucleus was increased (P<0.0001). However, the thickness of the lens nucleus and cortex and the density of cortex had no significant effect on the phacoemulsification time (p=0. 235, p=0.811). Preoperative evaluation with a Scheimpflug camera is particularly valuable for cataractous patients with corneal endothelial disease deciding on phacoemulsification.
Cataract ; Humans ; Phacoemulsification*

Systemic lupus erythematosus (SLE) which is thought to be autoimmune in nature affects multiple organs and produces a diversity of signs and symptoms. However, cardiovascular manifestations of SLE are manifested more frequently by autopsy. Recently, with the prolonged survival and improvement of diagnostic methods in SLE including echocardiography, the morbidity and mortality associated with cardiovascular manifestations of SLE became more apparent and increased. Simultaneous involvement of the pulmonary artery and the myopericardium in SLE is known to be rare. Pulmonary hypertension is known to be associated with poor prognosis. We report a 27 year-old female patient of SLE with pulmonary hypertension, pericarditis and left ventricular systolic dysfunction.
Adult ; Autopsy ; Echocardiography ; Female ; Humans ; Hypertension, Pulmonary* ; Lupus Erythematosus, Systemic* ; Mortality ; Pericarditis* ; Prognosis ; Pulmonary Artery

The lumbar foramen is affected by different degenerative diseases, including extraforaminal disc herniation, foraminal stenosis (FS), and degenerative or spondylolytic spondylolisthesis. The purpose of this study was to describe percutaneous stenoscopic lumbar decompression with a paramedian approach (para-PSLD) for foraminal/extraforaminal lesions. All operative procedures were performed using a complete uniportal endoscopic instrument system. The para-PSLD can be easily applied to patients with FS and narrow disc space or facet joint hypertrophy. The anatomical view of a para-PSLD is similar to that of a conventional open surgery and allows for good visualization of the foraminal/extraforaminal areas. We suggest that para-PSLD is an alternative and minimally invasive procedure to treat degenerative lumbar foraminal/extraforaminal stenoses.
Constriction, Pathologic ; Decompression ; Humans ; Hypertrophy ; Ion Transport ; Spinal Stenosis ; Spondylolisthesis ; Surgical Procedures, Operative ; Zygapophyseal Joint

PURPOSE: Cisplatin is highly effective for the treatment of solid tumors in children. However, the clinical use of cisplatin is limited by its ototoxicity. The aim of this study was to evaluate the ototoxicity in children treated with cisplatin. Method: We performed a single institution retrospective analysis of pediatric oncology patients who received cisplatin therapy between January 2001 and January 2008. Thirty-seven patients with sufficient medical and audiologic data were included in this study. RESULTS: The median age at the time of diagnosis was 10.7 (range 3.8-16.7) years. There were 16 males and 21 females. The underlying diseases were osteosarcoma (15 cases), medulloblastoma (14 cases), germ cell tumors (7 cases), and hepatoblastoma (1 case). The median individual dose was 100 mg/m2/cycle (56-200). The median cumulative dose was 480 mg/m2 (200-1,490). Sixteen patients (43%) received cranial radiotherapy. Of the 37 patients, 17 developed hearing loss, leading to an overall incidence of 46%. Logistic regression showed that age at treatment (P=0.04) and cumulative dose of cisplatin (P=0.005) were the significant risk factors in predicting hearing loss in children treated with cisplatin. In all the patients who had hearing loss, there was neither improvement nor aggravation during the follow-up (3-68 months). CONCLUSION: The cumulative dose of cisplatin (>500 mg/m2) and younger age at treatment (<12 years) were 2 most important risk factors for ototoxicity in patients treated with cisplatin. Serial audiometric evaluations are needed in the patients with risk factors during and after cisplatin treatment.
Adolescent ; Child ; Cisplatin ; Female ; Follow-Up Studies ; Hearing Loss ; Hepatoblastoma ; Humans ; Incidence ; Logistic Models ; Male ; Medulloblastoma ; Neoplasms, Germ Cell and Embryonal ; Osteosarcoma ; Retrospective Studies ; Risk Factors

Pseudoaneurysm is defined as the aneurysmal cyst resulted from partial or total rupture of vessel membrane, and it can be caused by fracture, operation, laceration, blunt trauma, osteochondroma and so on. When the displaced pelvic bone fracture is diagnosed, the traumatic pseudoaneurysm, which is frequently related by the direct injury of vessel, is one of the common complications, and it can result the massive hemorrhage even death. In case of the displaced pelvic bone fracture, surgeon should check the hemoglobin level and vital sign carefully for the possibility of vascular injury. Authors report the rare case of superior gluteal artery pseudoaneurysm without pelvic bone fractrure.
Aneurysm ; Aneurysm, False* ; Arteries* ; Hemorrhage ; Lacerations ; Membranes ; Osteochondroma ; Pelvic Bones* ; Rupture ; Vascular System Injuries ; Vital Signs

The incidence of mitral valve aneurysm in infective endocarditis is 9-10%. However, a huge giant mitral valve aneurysm larger than 3 cm in length associated with acute mitral regurgitation is very rare. The mitral valve aneurysm can be complicated with perforation, leading to severe mitral regurgitation and congestive heart failure, pending to surgical correction. We hereby report a case of twenty-three year-old female who suffered from sudden onset of chest pain and dyspnea due to acute left ventricular failure, which was developed after the perforation of huge, hanging, giant septic aneurysm on the mitral valve. The patient underwent mitral valvuloplasty and recovered uneventfully.
Aneurysm* ; Chest Pain ; Dyspnea ; Endocarditis ; Female ; Heart Failure ; Humans ; Incidence ; Mitral Valve ; Mitral Valve Insufficiency

Primary pulmonary hypertension (PPH) is one of rare and fatal vascular disorder. The exact mechanisms for the increased pulmonary vascular resistance and pressure in PPH are unknown. The disease is advanced pro-gressively and patients naturally die within three years after the initial diagnosis. PPH is characterized with mean pulmonary artery pressure over 25-30 mmHg and intractable hypertension despite any intensive therapeutic maneuvers. Associated congenital anomaly is very rare. We report a 19 year-old female patient who diagnosed as PPH 10 years ago and suffered from severe pulmonary hypertension (100 mmHg of pulmonary arterial pressure) with the congenital absence of inferior vena cava. Her venous blood from lower body was drained through azygous vein into superior vena cava.
Diagnosis ; Female ; Humans ; Hypertension ; Hypertension, Pulmonary* ; Pulmonary Artery ; Vascular Resistance ; Veins ; Vena Cava, Inferior* ; Vena Cava, Superior ; Young Adult