No abstract available.
De Lange Syndrome*

No abstract available.
Temporal Bone*

The Kniest syndrome is characterized by disproportionate dwarfism and Kyphoscoliosis which may be associated with flat facies with prominent eyes, cleft palate, hearing loss, myopia and limited joint motion. The skeletal abnormalities are recognizable at birth with shortening and deformity of the extremities and stiff joints. Marked lumbar lordosis and kyphoscoliosis develop in childhood, resulting in disproportionate shortening of the trunk. We experienced a case of kniest syndrome, confirmed by clinical features, radiological features, and histological examination of cartilage. A brief review of the related literature is presented.
Animals ; Cartilage ; Cleft Palate ; Congenital Abnormalities ; Dwarfism ; Extremities ; Facies ; Hearing Loss ; Joints ; Lordosis ; Myopia ; Parturition

BACKGROUND: Pacing-induced atrial electrical remodeling (AER) is characterized by shortening of atrial effective refractory period (A-ERP) and its altered rate adaptation. In paroxysmal atrial fibrillation (AF), periods of AF occur with interveneing normal sinus rhythm (NSR) when atria recover from the preceding AER. Previous episodes of AF may precondition the atrial myocardium and cause different time course of AER in subsequent episodes of AF. But the influence of the preceding AER on the subsequent AER has not been described. METHODS: Four mongrel dogs were anesthetized with enflurane. After thoracotomy, silicon band with 3 pairs of electrodes was sutured to the lateral wall of the left atrium. Atrial pacing was performed after 2 wks of recovery and autonomic blockade. Pacing protocol consisted of rapid atrial pacing (RAP) at 500 bpm (for 60 min) and recovery in NSR (for 60 min) which was repeated three times. A-ERP was measured every 10 min. The same pacing protocol was repeated after pretreatment with verapamil (0.1 mg/kg/hr). RESULTS: 1) With 60 min of RAP, A-ERP decreased significantly (126+/-6 ms vs. 105+/-7 ms, p<0.005). 2) After cessation of pacing, A-ERP returned to 98% of baseline value in 15 minutes. Recovery from AER occurred faster than AER (78 vs 21 ms/h). 3) After pretreatment with verapamil, RAP decreased A-ERP from 127+/-5 ms to 116+/-5 ms. AER, the reduction in A-ERP, was significantly attenuated by pretreatment with verapamil (deltaERp=17+/-7 vs. 9+/-0.2 %, p<0.05). 4) When RAPs were repeated, AER showed a tendency of acceleration, but it was not statistically significant (deltaERp=22 ms, 24 ms, 28 ms at the end of 60 min pacing for the 1st, 2nd, 3rd pacing). CONCLUSION: RAP induced AER in conscious dog atria and it was reduced by pretreatment with calcium channel blocking agent, verapamil. Upon repeated atrial stimulations, AER did not accelerate or decelerate when the atria recovered from the preceding AER.
Acceleration ; Animals ; Atrial Fibrillation ; Atrial Remodeling* ; Calcium ; Calcium Channels ; Dogs* ; Electrodes ; Enflurane ; Heart Atria ; Myocardium ; Silicones ; Thoracotomy ; Verapamil

Background: Failure of mitral valve repair sometimes may be ascribed to severe or progressive alteration of the subvalvar apparatus. The aim of this study was to evaluate the effects of new chordae formation on mitral repair. Material and Method: From March 1997 to February 1999, 26 patients underwent mitral valve repairs with new chordae formation, we compared the symptoms and echocardiographic findings checked at preoperative state, and intraoperative period, discharge, and their last OPD visit. There were 15 male , and 11 female patients, and their mean age was 51.2+/-13.4 years. Etiology of the lesions was degenerative (18), rheumatic (6), infective (1) and ischemic (1). Chordal lesions were caused by rupture (18), elongation (6), and a combination of two causes (2). Associated lesions included atrial septal defect (2), tricuspid insufficiency (7), aortic insufficiency(4), and a combination of previous two factors (2). The number of mean artificial chordae was 3.6+/-1.6. Annuloplasty was performed in all cases. The CPB time was 182.1+/-63.7 minutes and the ACC time was 133.1+/-45.6 minutes. Average follow up period was 49.2+/-7.1 months. Result: There was no early death. Early reoperation was performed in two patients, one patient received mitral valve replacement because of an abnormality of annuloplasty and another received pericardiostomy due to postoperative pericardial effusion. During the follow up of 49.2+/-7.1 moths, there was no late mortality. Postoperative NYHA functional class checked at last OPD visit was class I in 22 patients (88%), class II in 2 (8%), and class III in 1 (4%). Regarding the late echocardiogram MR was absent in 20 patients (78%), I in 4 (15%), and II in 1 (4%). The postrepair mitral valve area was 2.2+/-0.35 cm(2). Conclusion: This study suggests that mitral valve repair using new chordae formation provides good early and mid term survivals and functional improvement. We think that the artificial chorda formation with polytetrafluoroethylene suture might be safe and effective technique for mitral valve repair.
Echocardiography ; Female ; Follow-Up Studies ; Heart Septal Defects, Atrial ; Humans ; Intraoperative Period ; Male ; Mitral Valve* ; Mortality ; Moths ; Pericardial Effusion ; Pericardial Window Techniques ; Polytetrafluoroethylene ; Reoperation ; Rupture ; Sutures

We present a case of an 8 year-old girl with a large aneurysmal bone cyst (ABC) of the 4th lumbar vertebra that involved the adjacent posterior element and which was treated by an en bloc excision. An aneurysmal bone cyst is an uncommon lesion. Among lesions that involve the extremities, standard treatment with curettage and a bone graft or other alternatives, such as embolization and radiation therapy, may be sufficient; but those that involve the spinal column require special consideration because of its anatomical and biomechanical complexity. We removed a large aneurysmal bone cyst from the posterior element of the lumbar spine with an en bloc excision without fusion or instrumentation and the clinical result was satisfactory. At the 1-year follow-up, there was no evidence of clinical recurrence or radiological instability. We describe a case of a large aneurysmal bone cyst of a lumbar vertebra of a child and present a review of the pertinent literature.
Aneurysm* ; Bone Cysts* ; Child* ; Curettage ; Extremities ; Female ; Follow-Up Studies ; Humans ; Recurrence ; Spine ; Transplants

BACKGROUND: Unlike patterns observed in the general population, obesity is associated with better survival among hemodialysis patients, which could be explained by reverse causation or illness-related weight loss. However, the time-varying effect of body mass index (BMI) on hemodialysis survival has not been investigated. Therefore, this study investigated the time-varying effect of BMI on mortality after starting hemodialysis. METHODS: In the present study, we examined Korean Society of Nephrology data from 16,069 adult patients who started hemodialysis during or after the year 2000. Complete survival data were obtained from Statistics Korea. Survival analysis was performed using Cox regression and a non-proportional hazard fractional polynomial model. RESULTS: During the median follow-up of 8.6 years, 9,272 patients (57.7%) died. Compared to individuals with normal BMI (18.5–24.9 kg/m²), the underweight group (< 18.5 kg/m²) had a higer mortality hazard ratio (HR, 1.292; 95% confidence interval [CI], 1.203–1.387; P < 0.001) and the overweight group (25.0–29.9 kg/m²) had a lower mortality HR (0.904; 95% CI, 0.829–0.985; P = 0.022). The underweight group had increasing HRs during the first 3 to 7 years after starting hemodialysis, which varied according to age group. The young obese group (< 40 years old) had a U-shaped temporal trend in their mortality HRs, which reflected increased mortality after 7 years. CONCLUSION: The obese hemodialysis group had better survival during the early post-dialysis period, although the beneficial effect of obesity disappeared 7 years after starting hemodialysis. The young obese group also had an increased mortality HR after 7 years.
Adult ; Body Mass Index ; Follow-Up Studies ; Humans ; Korea ; Models, Statistical ; Mortality ; Nephrology ; Obesity ; Overweight ; Renal Dialysis ; Thinness ; Weight Loss

BACKGROUND: Transcranial Doppler ultrasonography (TCD) can detect microembolic signals (MES) in the patients with a potential embolic source. Clinical significance of MES has not been demonstrated in patients with prosthetic mechanical heart valves. We studied the correlation between cerebral thromboemoblic events after the mechanical heart valve surgery (MHVS) and residual MES during TCD monitoring with 100% oxygen inhalation in patients with mechanical heart valves. MATERIAL AND METHOD: Twenty patients with previous cerebral thromboemoblic events after MHVS and a sex- and age-matched control group (n=30) were studied. TCD monitoring was performed from unilateral middle cerebral artery. After baseline monitoring for 20 minutes, 6L of oxygen was inspired for 40 minutes. RESULT: The site of valve and the duration after MHVS of the patients did not differ from those of controls. During baseline monitoring, there was no significant difference in MES prevalence or counts compared to controls. During oxygen inhalation, patients showed a higher MES prevalence (55%, 27.6%, p=0.045) and a more frequent MES counts (p=0.027) compared to controls. CONCLUSION: TCD monitoring with oxygen inhalation may be useful to differentiate clinically significant MES in patients with mechanical heart valve.
Embolism ; Heart Valve Prosthesis ; Heart Valves* ; Heart* ; Humans ; Inhalation* ; Middle Cerebral Artery ; Oxygen* ; Prevalence ; Ultrasonography ; Ultrasonography, Doppler, Transcranial

OBJECTIVE: To determine the utility of perfusion MR imaging in the differential diagnosis of brain tumors. MATERIALS AND METHODS: Fifty-seven patients with pathologically proven brain tumors (21 high-grade gliomas, 8 low-grade gliomas, 8 lymphomas, 6 hemangioblastomas, 7 metastases, and 7 various other tumors) were included in this study. Relative cerebral blood volume (rCBV) and time-to-peak (TTP) ratios were quantitatively analyzed and the rCBV grade of each tumor was also visually assessed on an rCBV map. RESULTS: The highest rCBV ratios were seen in hemangioblastomas, followed by high-grade gliomas, metastases, low-grade gliomas, and lymphomas. There was no significant difference in TTP ratios between each tumor group (p<0.05). At visual assessment, rCBV was high in 17 (81%) of 21 high-grade gliomas and in 4 (50%) of 8 low-grade gliomas. Hemangioblastomas showed the highest rCBV and lymphomas the lowest. CONCLUSION: Perfusion MR imaging may be helpful in the differentiation of thevarious solid tumors found in the brain, and in assessing the grade of the various glial tumors occurring there.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Analysis of Variance ; Blood Volume/physiology ; Brain/*pathology/physiopathology ; Brain Neoplasms/*pathology/physiopathology/secondary ; Diagnosis, Differential ; Female ; Human ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Male ; Middle Age ; Time Factors

BACKGROUND: The increasing prevalence of type 2 diabetes mellitus (T2DM) is associated with the rapid spread of obesity. Obesity induces insulin resistance, resulting in beta-cell dysfunction and thus T2DM. Green tea extract (GTE) has been known to prevent obesity and T2DM, but this effect is still being debated. Our previous results suggested that circulating green tea gallated catechins (GCs) hinders postprandial blood glucose lowering, regardless of reducing glucose and cholesterol absorption when GCs are present in the intestinal lumen. This study aimed to compare the effect of GTE with that of GTE coadministered with poly-gamma-glutamic acid (gamma-PGA), which is likely to inhibit the intestinal absorption of GCs. METHODS: The db/db mice and age-matched nondiabetic mice were provided with normal chow diet containing GTE (1%), gamma-PGA (0.1%), or GTE+gamma-PGA (1%:0.1%) for 4 weeks. RESULTS: In nondiabetic mice, none of the drugs showed any effects after 4 weeks. In db/db mice, however, weight gain and body fat gain were significantly reduced in the GTE+gamma-PGA group compared to nondrug-treated db/db control mice without the corresponding changes in food intake and appetite. Glucose intolerance was also ameliorated in the GTE+gamma-PGA group. Histopathological analyses showed that GTE+gamma-PGA-treated db/db mice had a significantly reduced incidence of fatty liver and decreased pancreatic islet size. Neither GTE nor gamma-PGA treatment showed any significant results. CONCLUSION: These results suggest that GTE+gamma-PGA treatment than GTE or gamma-PGA alone may be a useful tool for preventing both obesity and obesity-induced T2DM.
Absorption ; Adipose Tissue ; Animals ; Appetite ; Blood Glucose ; Catechin ; Cholesterol ; Diabetes Mellitus, Type 2 ; Diet ; Eating ; Fatty Liver ; Glucose ; Glucose Intolerance ; Incidence ; Insulin Resistance ; Intestinal Absorption ; Islets of Langerhans ; Mice ; Obesity ; Polyglutamic Acid ; Prevalence ; Tea ; Weight Gain