Search results for " DUP"
showing 10 items of 249 documents
Volume flow in the common carotid artery does not decrease postprandially.
2003
Background and Purpose. A commonplace explanation for postprandial fatigue is the assumption of the redistribution of perfusion from the cerebral to the mesenterial territory. However, this assumption has never been scientifically proven. Methods. Because approximately 70% of the blood flow in the common carotid artery (CCA) is directed to the internal carotid artery, this vessel can be seen as a major brain-supplying artery. Flow volume in the CCA can be measured by color M-mode duplex sonography. The authors investigated the flow volume rate in 20 healthy volunteers before and after the intake of a high-energy meal. Heart rate, blood pressure, and expiratory CO2 were also measured at both…
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
2009
The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…
Color-coded duplex ultrasonography of the origin of the vertebral artery: normal values of flow velocities.
2000
The introduction of color-coded duplex ultrasonography has improved the ease of performing ultrasound investigations of the vertebral arteries. So far, normal values of flow velocities have been reported only for the intertransverse region of the vertebral artery (V2 segments). Atherosclerotic disease at the origin of the vertebral arteries (V0 segment) is frequent and is one of the risk factors for vertebrobasilar ischemic disease. Normal values of flow velocities of the vertebral artery origin are needed to assess pathologic findings, such as vertebral artery origin stenosis or dissection. The aim of this study was to describe the normal flow velocities of vertebral artery origin (V0 segm…
New pattern of EGFR amplification in glioblastoma and the relationship of gene copy number with gene expression profile
2010
Gene amplification is a process that is characterized by an increase in the copy number of a restricted region in a chromosome arm, and is frequently associated with an overexpression of the corresponding amplified gene. Amplified DNA can be organized either as extrachromosomal elements, repeated units at a single locus or scattered throughout the genome. The amplification of the gene for epidermal growth factor receptor (EGFR) is a common finding in glioblastomas and the amplified gene copies appears as double minutes. The aim of this study was to investigate the different patterns of EGFR amplification in 40 cases of glioblastoma using FISH analysis in metaphases and paraffin sections, an…
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008
Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…
Infrequent early recanalization of greater saphenous vein after endovenous laser treatment
2003
Abstract Objective The frequency of recanalization of the greater saphenous vein (GSV) after endovenous laser treatment (ELT) is unclear. This study was undertaken to establish the incidence of early recanalization after ELT and to study the histopathologic features of reperfused and excised GSV. Methods One hundred nine GSV in 85 consecutive patients with clinical stage C 2-6 E P,S A S,P,D P R disease were treated with ELT. Twelve months of follow-up with duplex scanning at regular intervals was possible in 104 treated veins (95.4%) in 82 patients (96.5%). Recanalized vessels were removed surgically and examined at histopathology. Results ELT-induced occlusion proved permanent at duplex sc…
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 <i>(NF1)<…
2006
Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the <i>NF1</i> gene. Approximately 5% show an interstitial deletion of chromosome 17q11.2 (including <i>NF1</i>) and in most cases also a more severe phenotype. Here we report on a 7-year-old girl with classical NF1 signs, and in addition mild overgrowth (97th percentile), relatively low OFC (10th–25th percentile), facial dysmorphy, hoarse voice, and developmental delay. FISH analysis revealed a 17q11.2 microdeletion as well as an unbalanced 7p;13q translocation leading to trisomy of the 7q36.3 subtelomeric region. The patient’s mother and grandmother who were phenotypically normal …
Incidence and severity of postthrombotic syndrome after iliofemoral thrombosis - results of the Iliaca-PTS - Registry.
2021
Summary: Background: Deep venous thrombosis (DVT) and in particular, iliofemoral thrombosis (IFT) can lead to recurrent thrombosis and postthrombotic syndrome (PTS). Data on the prevalence, predictors and outcome of IFT are scarce. Patients and methods: We retrospectively searched our database of outpatients who had presented with DVT and IFT including the iliac veins from 2014 until 2017. In addition, we performed a prospective registry in a subgroup of patients with IFT. These patients received duplex ultrasound, magnetic resonance venography and measurement of symptom-free walking distance using a standardized treadmill ergometry. The severity of PTS was analyzed using the Villalta-Scal…
Symptomatic Deep Femoral Artery Pseudoaneurysm Endovascular Exclusion. Case Report and Literature Review.
2017
Deep femoral artery pseudoaneurysms (DFAPs) are rare and generally occur after penetrating trauma or surgical procedures. A 36-year-old obese man presented with pain in correspondence of the anterior-lateral thigh after 6 months from gunshot wound. Duplex and computed tomography (CT) showed a bilobed right DFAP (maximal diameter 12.9 cm). The patient was managed urgently, under local anesthesia, by placement in the distal DFA of a Viabahn 8 Ã 100-mm stent graft (W L Gore & Associates, Inc). The postoperative course was uneventful, and the 24-month CT showed regular stent-graft patency and 20-mm DFAP shrinkage. The literature review reported 8 cases of DFAPs; of these 6 were managed by endo…