Search results for "DUP"
showing 10 items of 499 documents
The “Jacobsen Flap” Technique: A Safe, Simple Surgical Procedure to Treat Dupuytren Disease of the Little Finger in Advanced Stage
2010
The "Jacobsen flap" technique: a safe, simple surgical procedure to treat Dupuytren disease of the little finger in advanced stage. Tripoli M, Cordova A, Moschella F. Source Chirurgia Plastica e Ricostruttiva, Dipartimento di Discipline Chirurgiche ed Oncologiche, Università degli Studi di Palermo, Italy. matripoli@yahoo.it Abstract The surgery for advanced stages of Dupuytren disease of the little finger is controversial. In the literature, several techniques have been described with variable reported results and postoperative complications. Percutaneous needle fasciotomy, McCash technique, and dermofasciectomy are often performed for surgical treatment but they present significant complic…
The differential diagnoses of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing.
2019
BACKGROUND: Although uterine leiomyomas and leiomyosarcomas are considered biologically unrelated tumors, they share morphologic and histologic characteristics that complicate their differential diagnosis. The long-term therapeutic option for leiomyoma is laparoscopic myomectomy with morcellation, particularly for patients who wish to preserve their fertility. However, because of the potential dissemination of undiagnosed or hidden leiomyosarcoma from morcellation, there is a need to develop a preoperative assessment of malignancy risk. OBJECTIVE: Through an integrated comparative genomic and transcriptomic analysis, we aim to identify differential genetic targets in leiomyomas vs leiomyosa…
Characterization of small HSPs from Anemonia viridis reveals insights into molecular evolution of alpha crystallin genes among cnidarians.
2014
Gene family encoding small Heat-Shock Proteins (sHSPs containing α-crystallin domain) are found both in prokaryotic and eukaryotic organisms; however, there is limited knowledge of their evolution. In this study, two small HSP genes termed AvHSP28.6 and AvHSP27, both organized in one intron and two exons, were characterised in the Mediterranean snakelocks anemone Anemonia viridis. The release of the genome sequence of Hydra magnipapillata and Nematostella vectensis enabled a comprehensive study of the molecular evolution of α-crystallin gene family among cnidarians. Most of the H. magnipapillata sHSP genes share the same gene organization described for AvHSP28.6 and AvHSP27, differing from …
Hemodynamic changes in splanchnic circulation after orthotopic liver transplantation in patients with liver cirrhosis
2002
Background: Liver cirrhosis increases portal vein pressure and alters the splanchnic circulation. With Doppler sonography, we investigated the hemodynamic changes in the portal vein, superior mesenteric artery, hepatic and splenic arteries and spleen size in a group of patients with end-stage liver disease before and after orthotopic liver transplantation (OLT). Methods: Ten patients (seven male, three female; mean age = 48.8 ± 7.6 years) who underwent OLT for liver cirrhosis mainly associated with hepatitis C virus infection completed the study. The control group consisted of 10 patients matched by sex and age who had no gastroenterologic or vascular diseases. All patients underwent duplex…
XLCS: A New Bit-Parallel Longest Common Subsequence Algorithm on Xeon Phi Clusters
2019
Finding the longest common subsequence (LCS) of two strings is a classical problem in bioinformatics. A basic approach to solve this problem is based on dynamic programming. As the biological sequence databases are growing continuously, bit-parallel sequence comparison algorithms are becoming increasingly important. In this paper, we present XLCS, a new parallel implementation to accelerate the LCS algorithm on Xeon Phi clusters by performing bit-wise operations. We have designed an asynchronous IO framework to improve the data transfer efficiency. To make full use of the computing resources of Xeon Phi clusters, we use three levels of parallelism: node-level, thread-level and vector-level.…
An Automatic Sleep Scoring Toolbox : Multi-modality of Polysomnography Signals’ Processing
2019
Sleep scoring is a fundamental but time-consuming process in any sleep laboratory. To speed up the process of sleep scoring without compromising accuracy, this paper develops an automatic sleep scoring toolbox with the capability of multi-signal processing. It allows the user to choose signal types and the number of target classes. Then, an automatic process containing signal pre-processing, feature extraction, classifier training (or prediction) and result correction will be performed. Finally, the application interface displays predicted sleep structure, related sleep parameters and the sleep quality index for reference. To improve the identification accuracy of minority stages, a layer-w…
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous K…
2021
Abstract Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency…
Prognostic value of FLT3 mutations in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and anthracycline monochemother…
2011
Background Fms-like tyrosine kinase-3 (FLT3) gene mutations are frequent in acute promyelocytic leukemia but their prognostic value is not well established. Design and Methods We evaluated FLT3-internal tandem duplication and FLT3-D835 mutations in patients treated with all-trans retinoic acid and anthracycline-based chemotherapy enrolled in two subsequent trials of the Programa de Estudio y Tratamiento de las Hemopatias Malignas (PETHEMA) and Hemato-Oncologie voor Volwassenen Nederland (HOVON) groups between 1996 and 2005. Results FLT3-internal tandem duplication and FLT3-D835 mutation status was available for 306 (41%) and 213 (29%) patients, respectively. Sixty-eight (22%) and 20 (9%) pa…
Carotid artery stenting with contralateral carotid occlusion in a rare aortic arch configuration
2010
We present the case of a 47-year-old man admitted to our department with an episode of aphasia. Duplex scan showed an occluded right internal carotid artery and severe left internal carotid artery stenosis. Contrast-enhanced computer tomography demonstrated a common trunk for both common carotid arteries anterior to the trachea and aberrant right subclavian artery posterior to the esophagus. The patient was considered to be a high risk for carotid endarterectomy and, consequently, we performed stenting of the left carotid artery. To our knowledge, this is the first case reporting the combination of these two aortic arch anomalies and the concomitant endovascular treatment of atherosclerotic…
Amplification of ETS2 oncogene in acute nonlymphoblastic leukemia with t(6;21;18).
1992
Cytogenetic and molecular studies in a case of acute nonlymphoblastic leukemia (ANLL) are reported in this paper. Bone marrow blasts carried a hypodiploid karyotype with a complex t(6;18;21)(6qter----6p21::21q22----21qter;18qter ----18p11::6p22----6pter; 21pter----21q22::6p21----6p22::18p11----18pte r) and other numerical and structural changes. We studied the organization and the expression of the ETS2 gene which is located on chromosome 21 in order to investigate its possible involvement in the disease. DNA analysis showed a 20-fold amplification of ETS2 sequences; an increase of 3- to 4-fold in the mRNAs level compared to normal was shown by Northern hybridization.