Search results for "Q2"

Potential of science to address the hunger issue: Ecology, biotechnology, cattle breeding and the large pantry of the sea

2018

The knowledge about the real possibilities that current science gives us is basic to support everything that is not negative either for men or for our environment. In this way, it is an advantage to win this battle against hunger with rational use of science advantages. In this paper, we start from the basis that the solution to the problems of hunger requires the multidisciplinary action of sciences and knowledge. We provide a reflection on the possibilities to be considered from disciplines such as ecology, biotechnology, veterinary and aquaculture. The need for ecological studies where the role of human beings as part of ecosystems is considered. In addition, advances in molecular biolog…

Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

2017

Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70…

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

2016

International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such …

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…

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, a…

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome

2018

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most …

Adherence to dietary treatment and clinical factors associated with anti-transglutaminase antibodies in celiac disease during the follow-up

2021

Introduction In clinical practice, celiac disease (CD) is monitored through anti-transglutaminase (TGA-IgA) antibody levels. The normalization of serum levels in successive periodic measurements indicates good response and adherence to dietary treatment. Objectives To evaluate the factors associated with the evolution of TGA-IgA antibodies and their association with dietary non-compliance and diseases related to CD. Methods This prospective observational study was carried out in 254 participants, who were recruited from patients from a hospital in southern Spain. Information about sex, age, serological test results, HLA DQ2/DQ8 haplotypes, mucosal atrophy, gastrointestinal and extra-intesti…

Duplication 12q21 in a patient with autistic disorder

2009

Study of J/ψ Production in Jets

2017

The production of $J/\psi$ mesons in jets is studied in the forward region of proton-proton collisions using data collected with the LHCb detector at a center-of-mass energy of 13 TeV. The fraction of the jet transverse momentum carried by the $J/\psi$ meson, $z \equiv p_{\rm T}(J/\psi)/p_{\rm T}({\rm jet})$, is measured using jets with $p_{\rm T}({\rm jet}) > 20$ GeV in the pseudorapidity range $2.5 < \eta({\rm jet}) < 4.0$. The observed $z$ distribution for $J/\psi$ mesons produced in $b$-hadron decays is consistent with expectations. However, the results for prompt $J/\psi$ production do not agree with predictions based on fixed-order non-relativistic QCD. This is the first measurement o…

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.