Search results for "Q2"
showing 10 items of 98 documents
123 MOLECULAR GENETIC ANALYSIS IN HUNTER DISEASE
1991
Clinical and biochemical studies have revealed a great phenotypic variability in mucopolysaccharidosis type II (Hunter disease), probably due to different mutations in the IDS gene that has been localized in Xq28. Using a cDNA probe containing almost the entire coding region of the human IDS gene, we performed a molecular analysis on 7 patients with Hunter disease. In one patient, a complete deletion of the IDS coding sequences was found. Another patient had structural alterations of the IDS gene including a partial deletion. In 5 patients, however, after restriction digestion of the DNA by PstI and TaqI and Southern hybridization with the IDS cDNA, the audiographic patterns obtained were s…
Measurable Residual Disease (MRD) Monitoring in Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1) RUNX1-RUNX1T1 Identifies Patients at High Risk o…
2019
Background: Acute myeloid leukemia (AML) with t(8;21)(q22;q22.1) resulting in the RUNX1-RUNX1T1 gene fusion is considered favorable in the 2017 genetic risk stratification by the European LeukemiaNet (ELN). After intensive chemotherapy most patients (pts) achieve complete remission (CR), but relapse occurs in about 50% and is associated with poor prognosis. In this AML subgroup monitoring of measurable residual disease (MRD) has been shown to identify pts at higher risk of relapse. Aims: To assess the prognostic impact of MRD monitoring in bone marrow (BM) and peripheral blood (PB) in a large cohort of 155 clinically well-annotated t(8;21)-AML pts enrolled in one of six AMLSG treatment tria…
Three solutions for a two-point boundary value problem with the prescribed mean curvature equation
2015
The existence of at least three classical solutions for a parametric ordinary Dirichlet problem involving the mean curvature operator are established. In particular, a variational approach is proposed and the main results are obtained simply requiring the sublinearity at zero of the considered nonlinearity.
Supersymmetric structures for second order differential operators
2012
Necessary and sufficient conditions are obtained for a real semiclassical partial differential operator of order two to possess a supersymmetric structure. For the operator coming from a chain of oscillators, coupled to two heat baths, we show the non-existence of a smooth supersymmetric structure, for a suitable interaction potential, provided that the temperatures of the baths are different.
Common variants conferring risk of schizophrenia
2009
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
2013
Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…
Sustainable Development and Technological Impact on CO 2 Reducing Conditions in Romania
2015
Climate change is a reality all over the world, and its complexity is increasing. Therefore, sustainability has become a national and international concern, ingrained in many organizational processes. The ability of organizations to respond to sustainability concerns is sometimes hindered by the complexity of integrating sustainability into business models and by the need to rethink their strategic directions. In Romania, sustainable development has become a priority for businesses, but even though companies are showing some concern, there are yet to demonstrate any full commitment (they are mainly concerned with areas such as society and the environment). This paper assesses Romania’s invo…
Dealing with preference uncertainty in contingent willingness to pay for a nature protection program: A new approach
2013
In this paper, we propose an alternative preference uncertainty measurement approach where respondents have the option to indicate their willingness to pay (WTP) for a nature protection program either as exact values or intervals from a payment card, depending on whether they are uncertain about their valuation. On the basis of their responses, we then estimate their degree of uncertainty. New within this study is that the respondent's degree of uncertainty is "revealed", while it is "stated" in those using existing measurement methods. Three statistical models are used to explore the sources of respondent uncertainty. We also present a simple way of calculating the uncertainty adjusted mea…
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
2017
Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. Methods Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by arra…
First Observation of Top Quark Production in the Forward Region
2015
Top quark production in the forward region in proton-proton collisions is observed for the first time. The W + b final state with W → μν is reconstructed using muons with a transverse momentum, p[subscript T], larger than 25 GeV in the pseudorapidity range 2.0 20 GeV. The results are based on data corresponding to integrated luminosities of 1.0 and 2.0 fb[superscript -1] collected at center-of-mass energies of 7 and 8 TeV by LHCb. The inclusive top quark production cross sections in the fiducial region are σ(top)[7 TeV] = 239 ± 53(stat) ± 33(syst) ± 24(theory) fb, σ(top)[8 TeV] = 289 ± 43(stat) ± 40(syst) ± 29(theory) fb.These results, along with the observed differential yields and c…