Search results for "Q2"
showing 10 items of 98 documents
Interpolated measures with bounded density in metric spaces satisfying the curvature-dimension conditions of Sturm
2011
We construct geodesics in the Wasserstein space of probability measure along which all the measures have an upper bound on their density that is determined by the densities of the endpoints of the geodesic. Using these geodesics we show that a local Poincar\'e inequality and the measure contraction property follow from the Ricci curvature bounds defined by Sturm. We also show for a large class of convex functionals that a local Poincar\'e inequality is implied by the weak displacement convexity of the functional.
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 …
Robustness of the Gaussian concentration inequality and the Brunn–Minkowski inequality
2016
We provide a sharp quantitative version of the Gaussian concentration inequality: for every $r>0$, the difference between the measure of the $r$-enlargement of a given set and the $r$-enlargement of a half-space controls the square of the measure of the symmetric difference between the set and a suitable half-space. We also prove a similar estimate in the Euclidean setting for the enlargement with a general convex set. This is equivalent to the stability of the Brunn-Minkowski inequality for the Minkowski sum between a convex set and a generic one.
A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment
2016
Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods. Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms. Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (!K5 SDS), 33 kg (! K3 SDS); SPAN: 122 cm; PH2B2, bone age: 11 years; mild psychomotor delay, facial dysmorphism (malformed years with a low-set, microcephaly) and feet malformations (flexion deformities, broad halluces). Born SGA, with a growth velocity ! K3 SDS, a severe short stature s…
Failure of topological rigidity results for the measure contraction property
2014
We give two examples of metric measure spaces satisfying the measure contraction property MCP(K,N) but having different topological dimensions at different regions of the space. The first one satisfies MCP(0,3) and contains a subset isometric to $\mathbb{R}$, but does not topologically split. The second space satisfies MCP(2,3) and has diameter $\pi$, which is the maximal possible diameter for a space satisfying MCP(N-1,N), but is not a topological spherical suspension. The latter example gives an answer to a question by Ohta.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
2022
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…
Differentiability of the isoperimetric profile and topology of analytic Riemannian manifolds
2012
Abstract We show that smooth isoperimetric profiles are exceptional for real analytic Riemannian manifolds. For instance, under some extra assumptions, this can happen only on topological spheres. To cite this article: R. Grimaldi et al., C. R. Acad. Sci. Paris, Ser. I 347 (2009).
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…
2021
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …
Consumers’ Sustainability Perceptions of the Supply Chain of Locally Produced Food
2010
This article is based on a qualitative focus group study regarding consumer perceptions about the sustainability of locally produced food supply chains. Sustainability perceptions were analyzed through thematic content analysis, where the most important economic, environmental and social themes of the supply chain were emphasized. According to the research findings, the socio-cultural aspects encompassing locally produced food form the most important sustainability dimension for consumers. Although the sample size is small, consisting of 19 consumers and limited to Central Finland, the findings suggest that the sustainability of local food should be promoted via socio-cultural arguments alo…