Klippel-Feil syndrome(KFS) consists of short neck, low posterior hairline and restriction of motion of the neck due to fusion of cervical vertebrae. The typical disorder results from a failure of the normal segmentation of mesodermal somites during 3-8 weeks of gestation. In 1912, the first complete clinical description of this syndrome was given by Klippel and Feil. Feil reported additional cases in 1919 and distinguished between three morphologic groups. The incidence of KFS has been estimated to be approximately 1 : 40,000-42,000 births. A slight female predilection has been noted. Although the disorder is sporadic, there are examples of familial occurrence; how ever, no clear mechanism of inheritance has been accepted. Since the disturbance producing a short neck occurs early in embryogenesis, defects in other organ systems may occur at the same time. Common musculoskeletal anomalies that accompany KFS include scoliosis, as well as Sprengel's deformity in as many as one-third of cases. Neurologic, cardiovascular, and urinary tract anomalies are associated with KPS. We report a case of Klippel-Feil syndrome with associates anomalies include Sprengel's deformity.
Cervical Vertebrae ; Congenital Abnormalities ; Embryonic Development ; Female ; Humans ; Incidence ; Klippel-Feil Syndrome* ; Mesoderm ; Neck ; Parturition ; Pregnancy ; Scoliosis ; Somites ; Urinary Tract ; Wills

PURPOSE: Zinc ion is critical for the functional and structural integrity of eukaryotic cells and participate in the regulation of apoptosis. In general, zinc inhibits a nuclear endonuclease, thereby causing inhibition of apoptosis. Recent studies have pointed to a role for a family of caspase proteases that act upstream of endonuclease. The widely used chemotherapeutic agents exert effects by inducing of apoptosis in sensitive tumor cells. In this study, we investigated the effects of zinc ion and other divalent cation on the idarubicin (IDA)-induced apoptosis of HL-60 cells. In addition, to determine whether Zn inhibits an event upstream of endonuclease activation, we analysed the activity of caspase-3, 9 and proteolytic cleavage of procaspase-3 and PARP [poly (ADP-ribose) polymerase]. METHODS: HL-60 cells were cultured in RPMI 1640 and treated with various doses and time periods of IDA with or without pretreatment of ZnCl2, CaCl2 and MgCl2. Cell viability was measured by trypan blue staining. For detection of apoptotic death, cells were stained with Hoechst dye and observed under fluorescence microscopy. The activities of caspase-3 and caspase-9 were measured by the proteolytic cleavages of Ac- DEVD-AMC and Ac-LEHD-AFC as flurogenic substrates, respectively. The proteolytic cleavages of procaspase-3 and PARP were analyzed by Western blotting using anti- caspase-3 and anti-PARP antibody, respectively. RESULTS: IDA induced the apoptotic death of HL-60 cells in a dose and time dependent manner, which was characterized by increasing chromatin condensation and DNA fragmentation. Pretreatment of HL-60 cells with ZnCl2 caused potent inhibition of IDA-induced apoptosis. Consistent with apoptotic death of HL-60 cells, IDA induced the catalytic activation of caspase-3 and caspase-9. After pretreatment of ZnCl2, the activation of caspase- 3 and the proteolysis of PARP induced by IDA were potently inhibited. But, after pretreatment of CaCl2 and MgCl2, there were no significant changes of IDA-induced apoptosis and proteases activity. CONCLUSION: Zinc ion suppressed the IDA-induced apoptosis via the inhibitions of caspase-9 and caspase-3. But calcium and magnesium ions didn't affect the IDA-induced apoptosis.
Apoptosis* ; Blotting, Western ; Calcium ; Caspase 3 ; Caspase 9 ; Cell Survival ; Chromatin ; DNA Fragmentation ; Eukaryotic Cells ; HL-60 Cells ; Humans ; Idarubicin ; Ions ; Magnesium ; Magnesium Chloride ; Microscopy, Fluorescence ; Peptide Hydrolases ; Proteolysis ; Trypan Blue ; Zinc

Primary biliary cirrhosis(PBC) is a chronic cholestatic liver disease of unknown origin. The small and medium sized intrahepatic bile ducts are destroyed by an inflammatory process, which, it has been suggested, is of the autoimmune type. It is strongly associated with the presence of antimitochondrial antibodies, predominantly IgM and IgG. The liver changes are classified into four stages, of which stage IV represents the development of cirrhosis, which required orthotropic liver transplantation in the longrun. The prevalence rates was reported 128 per millon in Sweden , but the disease is relatively rare in Oriental area. In medical treatment, long-term administration of ursodeoxycholic acid improves both clinical and biochemical signs, slows the progression of the disease and reduces the complication requiring liver transplantation. We report two cases of PBC, one with histologically proven cirrhosis, and the other with bile duct destruction consistent with stage III and hypothyroidism.
Antibodies ; Bile Ducts ; Bile Ducts, Intrahepatic ; Fibrosis ; Hypothyroidism ; Immunoglobulin G ; Immunoglobulin M ; Liver ; Liver Cirrhosis, Biliary* ; Liver Diseases ; Liver Transplantation ; Prevalence ; Sweden ; Ursodeoxycholic Acid

Percutaneous transluminal coronary angioplasty(PTCA) is rarely performed on patients with coronary arterial stenosis that resulted from Kawasaki disease. We experienced a 3 year 10-month-old male with a history of Kawasaki disease who developed a few numbers of fusiform aneurysm on the right and left coronary artery. We examined and followed up the patient for 21 months using eletrocardiography, echocardiography, scintigraphy, and coronary angiography. The angiography was performed at 4 months initially and repeated 21 months after the onset because of a perfusion defect at scintigraphy. A significant stenotic lesion was found on the right coronary artery. Twenty-one months after the onset, the stenotic lesion was successfully dilated after percutaneous transluminal coronary angioplasty and luminal patency was maintained for over 1 year. We report this case and a review of literatures.
Aneurysm ; Angiography ; Angioplasty, Balloon, Coronary* ; Child* ; Constriction, Pathologic* ; Coronary Angiography ; Coronary Vessels ; Echocardiography ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome* ; Perfusion ; Phenobarbital ; Radionuclide Imaging

BACKGROUND/AIMS: Endoscopic sclerotherapy is an accepted treatment for the patients with esogeal variceal bleeding, but endoscopic varicea1 band ligation, introduced by Stiegmann et al in 1986, is a new form of endoscopic treatment method, and may be safer. This study is performed to compare the effectiveness and safety of the two techniques. METHODS: We compared endoscopic sclerotherapy and endoscopic ligation in 10~8 patients who had recently bled from esophageal varices. We assessed the hemostatic efficacy for bleeding varices, the number of sessions of treatments needed to eradicate varices, the incidence of complications, rebleeding rate and survival rate of the patients by two techniques. RESULTS: Active bleeding was well controlled by sclerotherapy in all of six patients, and ligation in all of five patients by the initial treatment. The mean number of treatment sessions required to achieve eradication did not significantly differ between sclerotherapy and ligation(2.4+0.8 vs 1.8+ 1.0 sessions). Complications were less comman in ligation than sclerotherapy; chest discomfort(5.6% vs 29.6%), fever(3,7% vs 16.7%), esophageal ulcer(0% vs 5.6%), esophageal stricture(0% vs 3.7%). The rate of recurrent bleeding was significantly lower in the patients treated with ligation(p<0.05). The overall rate of survival was significantly higher in the patients treated with ligation(p<0.05), The days of hospitalization was significantly shorter in the patients treated with ligation than sclerotherapy(14.8+-7.0 vs 21.0+-9.7 days). CONCLUSIONS: The patients with esophageal variceal bleeding treated with endoscopic ligation have fewer treatment-related complications, lower rates of rebleeding and better survival rates.
Esophageal and Gastric Varices* ; Esophagus* ; Hemorrhage ; Hospitalization ; Humans ; Incidence ; Intestines* ; Ligation* ; Sclerotherapy* ; Stomach* ; Survival Rate ; Thorax ; Varicose Veins

Portal vein occlusion has previously been considered as a contraindication for TIPS placement. Several recent reports have suggested that placement of TIPS may be effective in patients with occluded portal veins to embolize varices and recanalize venous obstruction. We experienced a case of variceal bleeding associated with portal vein thrombosis who was successfully treated with TIPS placement. So we report the case with a brief review of literatures.
Esophageal and Gastric Varices ; Humans ; Portal Vein* ; Portasystemic Shunt, Surgical* ; Varicose Veins ; Venous Thrombosis*

In one-stage transanal endorectal pull-through operation (TERPT) for Hirschsprung disease, preoperative evaluation by contrast enema (CE) is important tool in aspect of planning of surgical procedure as well as diagnosis. This study was to evaluate the significance of CE for identifying the extent of aganglionic bowel. A retrospective analysis was performed in 40 patients who underwent TERPT between 2003 and 2011. The authors reviewed the CE studies and their correlation with pathologic extent of aganglionosis. Total 66 contrast enemas were performed in 40 patients. Twenty patients underwent single CE, but 20 patients required multiple CEs. In single CE group, 17 had clear radiographic transition zone, but 3 had less definite transition zone. In multiple CE group, 17 patients who had equivocal finding in first or second CE had definite radiographic transition zone, but 3 patients of this group had less definite radiographic transition zones. Overall, 34 patients (85%) had clear radiographic transition zone by single or repeated CE. One (2.9%) out of 34 patients with clear radiographic transition zone had discordance between radiographic and pathologic transition zone. In contrast 4 (66.7%) out of 6 patients with equivocal radiographic transition zone had discordance between radiographic and pathologic transition zone. Observation of clear radiographic transition zone is important in preparation of TERPT, and repeated CE is helpful to reduce the discordance between radiographic and pathologic transition zone. Awareness of the possibility of discordance is also important if radiographic transitional zone is not clear.
Enema ; Hirschsprung Disease ; Humans ; Retrospective Studies

Lymphangioleiomyomatosis(LAM) is rare and essentially limited to women in the reproductive ages. A 39-year-old female was admitted due to progressive exerUional dyspnea and intermittent productive cough. Chest PA showed marked hyperinflation of the lung associated with a diffuse reticulo-nodular pattern. High resolution CT scan of the thorax demonstrated that diffusely scattered thin-walled cysts were distributed throughout the bilateral lung fields. Abdominal CT scan showed variable sized multiple angiomyolipoma of both kidney. By open lung biopsy, she was diagnosed as pulmonary LAM associated with Tuberous sclerosis and renal Angiomyolipoma. We present the case and discuss the connection between pulmonary LAM and Tuberous sclerosis.
Adult ; Angiomyolipoma* ; Biopsy ; Cough ; Dyspnea ; Female ; Humans ; Kidney ; Lung ; Sclerosis* ; Thorax ; Tomography, X-Ray Computed ; Tuberous Sclerosis

The diffuse form of supravalvar aortic stenosis represents a surgical challenge when the ascending aorta, aortic arch, proximal descending thoracic aorta and arch arteries are involved. It can be treated by a variety of surgical approaches. We report a case of severe diffuse supravalvar aortic stenosis combined with an aortic valve anomaly and occlusion of the right coronary artery ostium in a 14-year-old boy with Williams syndrome. We enlarged the aortic root (Nick's procedure), ascending aorta, aortic arch, proximal descending thoracic aorta, and innominate artery with patches and replaced aortic valve with 19 mm St. Jude valve. Deep hypothermic circulatory arrest and retrograde cerebral perfusion were used during repair of the arch and arch artery.
Adolescent ; Aorta ; Aorta, Thoracic ; Aortic Stenosis, Supravalvular* ; Aortic Valve* ; Arteries ; Brachiocephalic Trunk ; Circulatory Arrest, Deep Hypothermia Induced ; Coronary Vessels ; Humans ; Male ; Perfusion ; Williams Syndrome

BACKGROUND/AIMS: Transjugular intrahepatic portosystemic shunt(TIPS) is a promising method of treatment for gastric and esophageall variceal bleeding. Immediate technical and short-term clinical results have been reportn!. This study is performed to evaluate long-term outcome after TIPS in patients who underwent the pracedure for variceal bleeding. METHODS: Forty patients who underwent TIPS hetween August 1991 and February 199S were followed up by clinical examination, upper gastrointestina! Endoscopy and Duplex sonogrphy. RESULTS: The mean portohepatic pressure gradient prior to TIPS was 30.1+/-8.7cmH ancl dropped to 16.6+/-6.7cmH2O after shunt(p<0.001). The cumulative survival rate was 67.5% at 6 months. 57.4% at 1 year, 37.1% at 2 years and 26.8% at 3 years. Survival after TIPS was inversely related to Child-Pugh class. The incidence of recurrent variceal bleeding was 25%. The causes of death were hepatic failure(53.6 %), recurrent variceal bleeding(28.6'%), sepsis(7.1 %) and unknown causes(10.7'%). CONCLUSION: TIPS is an effective method for treatment of variceal bleeding in unsuccessful cases by other treatments including endoscopic therapy and the most important prognostic factor is preprocedual hepatic resenre(Child-Pugh class), TIPS by itself is not defioite therapy, but in combination with careful follow-up surveillance and percutaneous shunt revision is very effective therapeutic strategy. TIPS is particularly valuable in tlreating patients with variceal bleeding hefor liver transplantation and in treating patients with poor liver function.
Cause of Death ; Endoscopy ; Esophageal and Gastric Varices ; Fibrinogen ; Follow-Up Studies* ; Hemorrhage* ; Humans ; Hypertension, Portal ; Incidence ; Liver ; Liver Transplantation ; Portasystemic Shunt, Surgical* ; Survival Rate