37 research outputs found

    Predictive factors for concurrent deep-vein thrombosis and symptomatic venous thromboembolic recurrence in case of superficial venous thrombosis. The OPTIMEV study

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    Superficial venous thrombosis (SVT) prognosis is debated and its management is highly variable. It was the objective of this study to assess predictive risk factors for concurrent deep-vein thrombosis (DVT) at presentation and for three-month adverse outcome. Using data from the prospective multicentre OPTIMEV study, we analysed SVT predictive factors associated with concurrent DVT and three-month adverse outcome. Out of 788 SVT included, 227 (28.8%) exhibited a concurrent DVT at presentation. Age >75years (odds ratio [OR]=2.9 [1.5-5.9]), active cancer (OR=2.6 [1.3-5.2]), inpatient status (OR=2.3 [1.2-4.4]) and SVT on non-varicose veins (OR=1.8 [1.1-2.7]) were significantly and independently associated with an increased risk of concurrent DVT. 39.4% of SVT on non-varicose veins presented a concurrent DVT. However, varicose vein status did not influence the three-month prognosis as rates of death, symptomatic venous thromboembolic (VTE) recurrence and major bleeding were equivalent in both non-varicose and varicose SVTs (1.4% vs. 1.1%; 3.4% vs. 2.8%; 0.7% vs. 0.3%). Only male gender (OR=3.5 [1.1-11.3]) and inpatient status (OR=4.5 [1.3-15.3]) were independent predictive factors for symptomatic VTE recurrence but the number of events was low (n=15, 3.0%). Three-month numbers of deaths (n=6, 1.2%) and of major bleedings (n=2, 0.4%) were even lower, precluding any relevant interpretation. In conclusion, SVT on non-varicose veins and some classical risk factors for DVT were predictive factors for concurrent DVT at presentation. As SVT remains mostly a clinical diagnosis, these data may help selecting patients deserving an ultrasound examination or needing anticoagulation while waiting for diagnostic tests. Larger studies are needed to evaluate predictive factors for adverse outcome

    Lsd1 ablation triggers metabolic reprogramming of brown adipose tissue

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    Previous work indicated that lysine-specific demethylase 1 (Lsd1) can positively regulate the oxidative and thermogenic capacities of white and beige adipocytes. Here we investigate the role of Lsd1 in brown adipose tissue (BAT) and find that BAT- selective Lsd1 ablation induces a shift from oxidative to glycolytic metabolism. This shift is associated with downregulation of BAT-specific and upregulation of white adipose tissue (WAT)-selective gene expression. This results in the accumulation of di- and triacylglycerides and culminates in a profound whitening of BAT in aged Lsd1- deficient mice. Further studies show that Lsd1 maintains BAT properties via a dual role. It activates BAT-selective gene expression in concert with the transcription factor Nrf1 and represses WAT-selective genes through recruitment of the CoREST complex. In conclusion, our data uncover Lsd1 as a key regulator of gene expression and metabolic function in BAT

    Excitation Intensity Driven PL Shifts of SiGe Islands on Patterned and Planar Si(001) Substrates: Evidence for Ge-rich Dots in Islands

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    For randomly nucleated SiGe/Si(001) islands, a significantly stronger blue-shift of the PL spectra as a function of the excitation intensity is observed when compared to islands grown on patterned substrates side by side within the same run in a solid source molecular beam epitaxy chamber. We ascribe this different PL behavior to the much larger inhomogeneity of the Ge distribution in islands on planar substrates when compared to islands grown on pit-patterned ones, as observed previously. 3D band-structure calculations show that Ge-rich inclusions of approximately 5 nm diameter at the apex of the islands can account for the observed differences in the PL spectra. The existence of such inclusions can be regarded as a quantum dot in an island and is in agreement with recent nano-tomography experiments

    Choledochocele: an unusual form of choledochal cyst

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    Choledochocele, or type III choledochal cyst, is a rare anomaly. Two children with choledochocele, both younger than any previously reported patient, were recently cared for at the University of Michigan Medical Center and prompted a literature review of this subject. Since 1974, 40 cases of choledochocele have been reported with enough clinical information for critical review. Ten of these patients were 21 years of age or younger. Presenting symptoms were not specific for choledochocele; they were generally interpreted to result from other biliary or gastrointestinal disorders that are more common for each age group. In pediatric patients the most frequent signs and symptoms of choledochocele were abdominal pain (70%), nausea and/or vomiting (60%), jaundice (30%), and acute pancreatitis (30%). While two-thirds of adult patients with choledochocele had undergone prior cholecystectomy (with stones rarely found), this was observed only once in children. Obstructive symptoms led to evaluation of the stomach and duodenum with either barium upper GI series or endoscopy in all children. These demonstrated an extrinsic mass effect in 90% of the patients. Endoscopic retrograde cholangiopancreatography identified a choledochocele in all cases in which the study was successfully executed. Intravenous cholangiography was sensitive in children, but less so in the adult patients reviewed. Other imaging efforts (computerized tomography, ultrasound, radionuclide scanning) were less dependable. Transduodenal marsupialization is the treatment of choice for patients of all ages and was provided in both of these newly reported children.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47183/1/383_2004_Article_BF00179633.pd

    Agenesis of the Sacrococcygeal Region

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    A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

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    Objective: Our aim was to investigate whether the risk of febrile seizures is influenced by a common functional polymorphism in the sodium channel gene SCN1A. This single nucleotide polymorphism (IVS5N + 5 G > A, rs3812718) was shown to modify the proportion of two alternative transcripts of the channel. Methods: We performed an exploratory case-control association analysis in 90 adult epilepsy patients with childhood febrile seizures vs 486 epilepsy patients without a history of febrile seizures and also vs 701 population controls. In the replication step, we investigated children with febrile seizures without concomitant epilepsy at the time of their inclusion. We compared the genotypes of 55 of those children against population controls and performed a within-family association analysis in an additional 88 child-parent trios with febrile seizures. Results: We observed a significant association of the splice-site interrupting A-allele with febrile seizures (p value in the exploratory step: 0.000017; joint p value of the replication: 0.00069). Our data suggest that the A-allele of this variant confers a threefold genotype relative risk in homozygotes and accounts for a population attributable fraction of up to 50% for the etiology of febrile seizures. Conclusions: The A-allele of the SCN1A single nucleotide polymorphism IVS5N + 5 G > A (rs3812718) represents a common and relevant risk factor for febrile seizures. A limitation of the present study is that patients of the exploratory and replication steps differed in aspects of their phenotype (febrile seizures with and without additional epilepsy)
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