Search results for "DUP"

SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.

2011

The molecular pathogenesis of primary mielofibrosis (PMF) is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A) allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD) at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q), del(20q), del(13q), +8, aUPD at 9p24 and abnormalities on chromosome 1). In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytob…

Acute onset of esophageal duplication cyst in adult. Case report.

2009

Esophageal duplication (ED) cyst is unusual congenital disorder of the foregut, accounting for 10% to 15% of duplications of all foregut cysts. We report a case of esophageal duplication with acute clinical presentation, treated successfully with surgical resection.46-year-old man with acute dysphagia and gastroesophageal reflux of 2 weeks duration, showed submucosal bulging mass in the posterior wall of the middle third of oesophagus, fluid-filled cystic structure, dyshomogeneous, low-attenuation mass with smooth borders compatible with an hemorrhagic esophageal duplication cyst. With the suspect of acute presentation of a complicated esophageal cyst, the patient underwent surgery by right…

Not Only for Egg Yolk—Functional and Evolutionary Insights from Expression, Selection, and Structural Analyses of Formica Ant Vitellogenins

2014

Vitellogenin (Vg), a storage protein, has been extensively studied for its egg-yolk precursor role, and it has been suggested to be fundamentally involved in caste differences in social insects. More than one Vg copy has been reported in several oviparous species, including ants. However, the number and function of different Vgs, their phylogenetic relatedness, and their role in reproductive queens and nonreproductive workers have been studied in few species only. We studied caste-biased expression of Vgs in seven Formica ant species. Only one copy of conventional Vg was identified in Formica species, and three Vg homologs, derived from ancient duplications, which represent yet undiscovered…

Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene

2013

Spinal muscular atrophy is an autosomal-recessive neuromuscular disorder, causing progressive proximal weakness and atrophy of the voluntary muscles. More than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or exon 7 only, in SMN1, the telomeric copy of the SMN gene. We report a young male patient with neurogenic symptoms and sparse muscle fiber atrophy, suggestive of a mild form of type III spinal muscular atrophy. He was found to be a carrier of intragenic mutations in both copies of the SMN gene, exhibiting a homozygous duplication of exons 7 and 8 in SMN1 and a homozygous deletion of exon 8 as well as a heterozygous deletion of exon 7 in SMN2. H…

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

A biomechanical comparison of countermovement performance after short-term traditional and daily-undulated loaded vertical jump training.

2017

In order to assess lower extremity muscle mechanical properties in athletes, power-load characteristics during multi-joint tasks are frequently examined. This work compared 6 weeks of traditional (TP) and daily-undulated (DUP) periodized loaded countermovement jumping (CMJ). 20 amateur athletes (age: 24.2 ± 2.6 years, height: 175.6 ± 7.1 cm, body mass: 71.5 ± 7.7 kg, 10 males/10 females) exercised three times weekly using maximal CMJs with loads corresponding to 0%, 15% and 30% of body mass. Prior to the training period, subjects were once-only assigned by random to either the TP or DUP training scheme. Pre-to-post training, maximal center of mass (COM) -height, -take-off velocity, -power o…

Selective detection of mRNA forms encoding the major phenobarbital inducible cytochromes P450 and other members of the P450IIB family by the RNAse A …

1990

Abstract The identification of P450 mRNAs in a tissue poses the problem that members of the same P450 gene family share a high sequence homology. Studies based on oligomer probes rely on a probe covering only a few base pairs. In contrast in our study on the expression of the P450IIB gene family we used in vitro-generated antisense transcripts, covering several hundred base pairs, of the hypervariable and constant regions of the P450IIB1 and P450IIB2 cDNA, in the RNAse A protection assay of mRNA isolated from various tissues. RNAse A concentrations were adjusted to a level where this enzyme still yielded distinct fragments for a defined P450IIB1 antisense/P450IIB2 sense heteroduplex, which …

Transurethral incision of duplex system ureteroceles in neonates: does it increase the need for secondary surgery in intravesical and ectopic cases?

2004

OBJECTIVE To evaluate the relevance of ureterocele ectopia and associated reflux on the outcome of duplex system ureteroceles (DSU) after neonatal transurethral incision (TUI). PATIENTS AND METHODS The study included 41 neonates with a diagnosis of DSU; the ureterocele was ectopic in 24 (58%). Before TUI, vesico-ureteric reflux (VUR) was present in 13 lower moieties (32%) and seven contralateral ureters (17%). TUI was always performed within the first month of life. The follow-up and management were tailored for each patient from the findings at ultrasonography, voiding cysto-urethrography and renal scintigraphy. Results of intravesical and ectopic DSU were compared using Fisher's exact tes…

Infrapopliteal Composite Bypass with Autologous Vein and Second Generation Glutaraldehyde Stabilized Human Umbilical Vein (HUV) for Critical Lower Li…

2007

Objective. To audit a single center consecutive series of infrapopliteal composite bypasses with second generation glutaraldehyde stabilized human umbilical vein. Design. Retrospective study. Patients. From January 1996 to July 2006 89 femoro-distal bypasses were constructed in 85 patients with HUV and residual vein segments as composite grafts in the absence of sufficient length of autologous vein. Methods. All patients with infrainguinal bypass operations were registered prospectively. Bypasses to infrapopliteal arteries performed with HUV-composite grafts were reviewed for graft patency, limb salvage, patient survival and possible biodegeneration of the HUV. Results. Early graft thrombos…