Search results for " DUP"
showing 10 items of 249 documents
Correlation between EGFR Amplification and the Expression of MicroRNA-200c in Primary Glioblastoma Multiforme
2014
Extensive infiltration of the surrounding healthy brain tissue is a critical feature in glioblastoma. Several miRNAs have been related to gliomagenesis, some of them related with the EGFR pathway. We have evaluated whole-genome miRNA expression profiling associated with different EGFR amplification patterns, studied by fluorescence in situ hybridization in tissue microarrays, of 30 cases of primary glioblastoma multiforme, whose clinicopathological and immunohistochemical features have also been analyzed. MicroRNA-200c showed a very significant difference between tumors having or not EGFR amplification. This microRNA plays an important role in epithelial-mesenchymal transition, but its impl…
Genetic Instability and Intratumoral Heterogeneity in Neuroblastoma with MYCN Amplification Plus 11q Deletion
2013
Background/Aim Genetic analysis in neuroblastoma has identified the profound influence of MYCN amplification and 11q deletion in patients’ prognosis. These two features of high-risk neuroblastoma usually occur as mutually exclusive genetic markers, although in rare cases both are present in the same tumor. The purpose of this study was to characterize the genetic profile of these uncommon neuroblastomas harboring both these high-risk features. Methods We selected 18 neuroblastomas with MNA plus 11q loss detected by FISH. Chromosomal aberrations were analyzed using Multiplex Ligation-dependent Probe Amplification and Single Nucleotide Polymorphism array techniques. Results and Conclusion Thi…
Computed Tomography-Aortography Versus Color-Duplex Ultrasound for Surveillance of Endovascular Abdominal Aortic Aneurysm Repair: A Prospective Multi…
2020
Background Color-duplex ultrasonography (DUS) could be an alternative to computed tomography-aortography (CTA) in the lifelong surveillance of patients after endovascular aneurysm repair (EVAR), but there is currently no level 1 evidence. The aim of this study was to assess the diagnostic accuracy of DUS as an alternative to CTA for the follow-up of post-EVAR patients. Methods Between December 16, 2010, and June 12, 2015, we conducted a prospective, blinded, diagnostic-accuracy study, in 15 French university hospitals where EVAR was commonly performed. Participants were followed up using both DUS and CTA in a mutually blinded setup until the end of the study or until any major aneurysm-rel…
Impact of Metabolic Syndrome on Atherosclerotic Burden and Cardiovascular Prognosis
2007
Patients with metabolic syndrome (MS) are at increased risk of cardiovascular atherosclerosis. The aim of this study was to evaluate the impact of MS on cardiovascular prognosis in context with atherosclerotic burden. A total of 811 patients with coronary heart disease (CHD) were included and carotid and leg arteries were examined using sonographic methods. Patients with low (CHD only, n = 428, 52.8%) or high atherosclerotic burden (CHD and peripheral atherosclerosis, n=383, 47.2%) were compared. Patients withor=3 of the following criteria: triglyceridesor=150 mg/dl, high-density lipoprotein cholesterol40 mg/dl (men) and50 mg/dl (women), body mass index30 kg/m2, blood pressureor=130/85 mm H…
Enteroscopic Cyanoacrylate Sclerotherapy of Jejunal and Gallbladder Varices in a Patient with Portal Hypertension
2001
Bleeding from varices outside the gastroesophageal region is a rare, but regularly reported complication of portal hypertension. The treatment differs from the management of esophageal and gastric varices. We present here a report on the diagnosis and treatment of bleeding jejunal and gallbladder varices in a man with portal hypertension caused by chronic calcifying pancreatitis. The patient was suffering from recurrent, frequent, and massive gastrointestinal bleeding from varices at the anastomotic area of a cholecystojejunostomy. For diagnostic purposes, we carried out percutaneous Duplex ultrasonography and push enteroscopy with the Doppler technique. The treatment of varices in this are…
Ileocecal duplication cysts: is the loss of the valve always necessary?
2014
Abstract Background Ileocecal (IC) duplication cysts are enteric duplications located at the IC junction, not clearly identified in all the published series. The reported treatment is IC resection and ileocolic anastomosis. It is well known that the loss of the IC valve has several adverse effects. This study is aimed at demonstrating that cyst removal together with the common ileal wall and following enterorrhaphy is possible, safe, and effective in preserving the IC region. Methods Medical records of 3 patients who underwent surgery for IC duplication between 2003 and 2013 were retrospectively reviewed evaluating follow-up results. Results All patients had an antenatal diagnosis of intraa…
Effects of Steatosis on Hepatic Hemodynamics in Patients with Metabolic Syndrome
2015
The aim of our study was to assess the hemodynamic changes in hepatic and splenic circulation using B-mode ultrasonography and color Doppler ultrasonography, in a population of patients with metabolic syndrome divided with respect to the presence or absence of steatosis diagnosed by ultrasonography. One hundred forty-one patients were included in the study. The severity of non-alcoholic fatty liver disease was classified as mild, moderate or severe. Visceral fat thickness, longitudinal diameter of the spleen, diameter of the portal vein, mean maximum portal vein flow velocity, hepatic artery and splenic artery resistivity indexes and hepatic vein flow phasicity were measured. Non-alcoholic …
External polytetrafluoroethylene reinforcement of varicose autologous vein grafts in peripheral bypass surgery produces durable bypass function
2017
Abstract Objective Use of autologous veins as peripheral bypass graft may become critical in the presence of significant varicose degeneration of the harvested vein. External support of such dilated veins with standard polytetrafluoroethylene (PTFE) prostheses was recommended as an option to use these veins for peripheral bypass. A single-center experience with this technique regarding long-term graft function, secondary reinterventions, and potential graft degeneration is presented. Methods Between January 1995 and January 2006, there were 54 patients with varicose veins who underwent 57 consecutive infrainguinal vein bypass operations with PTFE reinforcement in 57 limbs. Indications for s…
An abdominal aortic aneurysm (AAA) in combination with duplication of the inferior vena cava (IVC), the right renal artery (RRA) and the right renal …
1990
Intra-abdominal abnormality of vessels may sometimes lead to complications. A case of the rare combination of an abdominal aortic aneurysm (AAA) at the origin of the inferior mesenteric a. with duplications of the inferior vena cava (IVC), the right renal a. (RRA) and the right renal v. (RRV) as well as absence of the left common iliac v. is reported.
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.
2008
Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…