Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome is caused by the absence of paternally derived genes normally located on chromosome segment 15 q11-q13 or may be the result of maternal uniparental disomy with the absence of paternally derived 15 q11-q13 region. The developement of probes containing segments of DNA from chromosome region 15 q11-q13 provides the oppotunity to confirm the diagnosis of PW syndrome by fluorescence in situ hybridization(FISH). We experienced a 15-year-old boy of PW syndrome with diabetes mellitus, who revealed mental retardation, hypogonadism, obesity and microdeletion of chromosome 15 q11-q13 comfirmed by FISH.
Adolescent ; Chromosomes, Human, Pair 15* ; Diabetes Mellitus ; Diagnosis ; DNA ; Eating ; Fluorescence ; Humans ; Hypogonadism ; Intellectual Disability ; Male ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome* ; Uniparental Disomy

PURPOSE: The purpose of this study was to evaluate the safety, feasibility and effectiveness of an endoluminally-placed bifurcated stent-graft (Vanguard) for the treatment of infrarenal abdominal aortic aneurysm (AAA). METHODS: Transluminal endovascular stent-graft placements were attempted in 29 patients (28 male, mean age 69+/-7 years) with AAAs involving the common iliac arteries from Aug. 1997 to Jan. 1999. Endovascular therapy was performed in the cardiac catheterization laboratory with epidural anesthesia. One side of the femoral artery was opened by surgical cutdown for the bifurcated stent-graft entry and the other side was punctured percutaneously for the straight stent-graft. Computed tomography and/or intraarterial angiography were performed during an average follow-up of 10 months (2-18 months). RESULTS: Primary success rate was 75.9% (22 of 29 patients) and the overall success rate was 79.3% with successful correction of one perigraft leak. Twenty patients (69.0%) had significant coronary artery disease. There were two technical failure cases, the one was tortuous iliac vessel with spasm, the other was disconnection of the stent-graft connecting portion. Complications related to procedure occurred in 13.8% of patients (4 of 29 patients) and two of these four patients had procedure-related mortality because of acute renal failure following contrast overdose and sepsis after operation. CONCLUSIONS: Endovascular treatment of infrarenal AAA with bifurcated stent-graft (Vanguard<0A397>) is effective, feasible and relatively safe. However, further investigation for the outcome, complication and long-term follow-up are needed.
Acute Kidney Injury ; Anesthesia, Epidural ; Angiography ; Aortic Aneurysm, Abdominal* ; Cardiac Catheterization ; Cardiac Catheters ; Coronary Artery Disease ; Endoleak ; Femoral Artery ; Follow-Up Studies ; Humans ; Iliac Artery ; Male ; Mortality ; Sepsis ; Spasm

Dystrophic epidermolysis bullosa is a rare, chronic non-inflammatory bullous disease, which easily forms bullae by minor mechanical trauma or spontaneously, is inherited either in an autosomal dominant or autosomal recessive fashion. We report herein two cases which presented with bullae, erosions and ulcers on extremities, buttock, chest, abdomen and face and loss of all nail since birth in two sisters. Bulla occured bencath the basal lamina histopathologically, anchoring fibrils were almost absent on electron miaoscopy in both cases. The two sisters represented dystrophic epidermolysis bullosa considering the absence of family history inheritcd in an autosomal dominant fashion and the clinical, histological and electronmicroscopic findings.
Abdomen ; Basement Membrane ; Buttocks ; Epidermolysis Bullosa Dystrophica* ; Extremities ; Humans ; Parturition ; Siblings* ; Thorax ; Ulcer

OBJECTIVE: The authors evaluate the differences in the pedicle screw pull-out strength between an unaugmented screw and a screw augmented by high pressurized PMMA in an embalmed human lumbar cadaveric spine. METHODS: Pedicle screws were inserted in the 50 pedicles of cadaver lumbar spine after measuring the bone mineral density(BMD) of the specimens. The pedicle screw was inserted without augmentation on the left pedicle and with augmentation by a vertebral reconstruction with high pressurized PMMA on the right side. The pedicle screw was inserted before the hardening of bone cement on the right side. A computed tomographic scan was done to evaluate the location of the PMMA and PMMA/ screw interface. After that, a screw pullout strength test was performed. RESULTS: There were positive correlations between the pull-out strength and BMD in the control group (r=0.7339). The average pull-out strength of the augmented group was 168% greater than that of the control group(p<0.05). The pull-out strength of the augmented group was correlated with in the volume of the PMMA. CONCLUSION: A pedicle screw that is augmented with PMMA will provide a more rigid fixation than that of an unaugmented screw, especially in the low BMD group of the specimens.
Cadaver* ; Humans ; Polymethyl Methacrylate ; Spine

No abstract available.
Depression, Postpartum* ; Female ; Postpartum Period*

BACKGROUND: Total occlusion of the infrarenal abdominal aorta is a very rare disease in clinical practice. The clinical outcome may be poor unless management is attempted promptly. Surgical bypass has been recommended as the treatment of choice for these lesions. However, there was relatively high surgical mortality and morbidity associad with aorto-bifemoral bypass graft in patients with other systemic disease, especially coronary artery disease. As a result, the use of, thrombolysis with percutaneous transluminal angioplasty (PTA) has recently been extended to this disease as an alternative method to surgery. PTA is technically simpler with less morbidity and mortality than surgery.We report our experience with thrombolysis and balloon angioplasty of total aortic occlusion in 14 patients between March 1991 and December 1996. METHODS: Fourteen patients, whose mean age was 59+/-13 years (11 male, 3 female), serve as the study's patients. Aortography was introduced via transbrachial artery. The end hole multipurpose catheter with guidewire was introduced into the thrombotic portion of the total occlusion. Urokinase was infused into the thrombus through the catheter if there were no contraindications. in sysremic thrombolysis. Thrombolytic therapy was continued until the thrombi was resolved and flow was restored. Balloon dilatation was followed in residual stenotic lesions. Stents were implanted in case of suboptimal results after ballooning. RESULTS: Clinical findings were resting leg pain in 6 patients, gangrene in 5 patients, and claudication in 3 patients. The causes of aortic occlusion were thromboembolism in 4 patients and thrombosis of an atherosclerotic aorta in 10 patients. Location of obstruction was below the renal artery in all cases. The clinical outcome of interventional therapy was successful in all cases except one patients. Operative treatment was undertaken in 2 cases because they could not received thrombolytic therapy due to contraindication and complication of thrombolytic therapy (gastrointestinal bleeding). Near normal revascularization was achieved in 3 patients by thrombolytic therapy only. PTA was performed at the stenotic after thrombolytic therapy in 4 patients. Stenting were performed at the stenotic sites after balloon dilatation in another 4 patients. There was bleeding complication in one case. CONCLUSIONS: Interventional therapy such as thrombolytic therapy with PTA is an effective and safe treatment modality for abdominal aortic total occlusion in selected cases. These techniques were very useful in some high risk patients who received surgical bypass procedures.
Angioplasty ; Angioplasty, Balloon ; Aorta ; Aorta, Abdominal* ; Aortography ; Arteries ; Catheters ; Coronary Artery Disease ; Dilatation ; Gangrene ; Hemorrhage ; Humans ; Leg ; Male ; Mortality ; Rare Diseases ; Renal Artery ; Stents ; Thromboembolism ; Thrombolytic Therapy ; Thrombosis ; Transplants ; Urokinase-Type Plasminogen Activator

No abstract available.
Carcinoma, Hepatocellular* ; Classification*

Cutaneous metastasis from renal cell carcinoma is not unusual, occurring in 3 to 7%, although it may be overlooked. We report a case of metastatic renal cell carcinoma in a 74-year-old man who was presented with a 1.5 x 1.5 x 0.5 cm-sized nodule on the right zygoma for 3 months. A skin biopsy demonstrated the typical clear cell adenocarcinoma with PAS(+) granules in the cytoplasm and honeycombed or glandular configuration, compatible with metastatic renal cell carcinoma. Kidney ultrasonogram and abdomina1 CT scanning showed a large cystic mass on the upper pole of the left kidney. Furthermore radiologic studies revealed multiple metastatic lesions in the lung, liver and brain. He died 4 months later.
Adenocarcinoma, Clear Cell ; Aged ; Biopsy ; Brain ; Carcinoma, Renal Cell* ; Cytoplasm ; Humans ; Kidney ; Liver ; Lung ; Neoplasm Metastasis ; Skin ; Tomography, X-Ray Computed ; Ultrasonography ; Zygoma*

No abstract available.
Fistula*

The authors analyzed 5 cases of renal carcinomas confirmed by operation and pathologically, which wereselected from all the cases of selective angiography performed recently at the department of radiology, Busan National University Hospital. The result obtained were as follows; 1. Among the 5 cases of malignant tumors of thekidney, 4 cases were renal cell carcinomas, and 1 case was transitional cell carcinoma. 2. In the sexdistribution, male to female was 3:2. And all cases were over 51 years of age. 3. All the 5 cases were discoveredat the left kidney; 1 case, in upper pole; 2 cases, in mid-portion; and 2 cases, in lower pole. 4. Clinicalmanifestations were hematuria in all 5 cases; flank pain in 4 cases. But no palpable mass was demonstrated in anycases. 5. The renal angiographic findings; Of 4 cases of renal cell carcinomas, 2 cases revealed markedhypervascularity, 1 case mild hypervascularity with multiple mulbery-like aneruysms, and 1 case avascularity withwell demarcated margin. 1 case of transitional cell carcinoma showed hypovascularity with perivascular pooling anddisplacement of the upper dorsal branch of renal artery.
Angiography ; Busan ; Carcinoma, Renal Cell ; Carcinoma, Transitional Cell ; Female ; Flank Pain ; Hematuria ; Humans ; Kidney ; Male ; Renal Artery