Search results for "BN"

Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients

2017

IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…

Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

2011

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…

Major Congenital Anomalies in Babies Born With Down Syndrome

2014

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven m…

Effects of cardiopulmonary rehabilitation on the muscle function of children with Congenital Heart Disease : a prospective cohort study

2021

Critical medical and surgical advances have led to a shift in the care and management of children with congenital heart disease (CHD). These patients present with muscle deconditioning, which negatively influences their response to exercise, functional capacities, and quality of life. This study evaluates the influence of a cardiopulmonary rehabilitation program (CPRP) on the function of peripheral musculature of children with CHD. A single-center prospective cohort study was designed. Fifteen CHD subjects, between 12 and 16 years of age, with reduced aerobic capacity on a cardiopulmonary exercise test, were included in a three-month, 24-session CPRP. Measurements of the subjects’ handgrip …

Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.

2010

Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these…

Diagnostic and prognostic values of B-type natriuretic peptides (BNP) and N-terminal fragment brain natriuretic peptides (NT-pro-BNP).

2012

Abstract B-type natriuretic peptide (BNP) is a member of a four-natriuretic peptide family that shares a common 17-peptide ring structure. The N-terminal fragment (NT-pro-BNP) is biologically inert, but both are secreted in the plasma in equimolar quantities and both have been evaluated for use in the management of congestive heart failure. BNP and NT-pro-BNP are frequently used in the diagnosis of congestive heart failure and distinguishing between patients with dyspnoea of cardiac or pulmonary origin. Values of NT-pro-BNP are affected by age or the presence of one or several co-morbidities such as chronic renal failure, type 2 diabetes, and acute coronary syndrome. ‘Normal’ values of thes…

Are BNP plasma levels useful in heart failure diagnosis each time? A dyspneic patient with anasarca.

2011

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe

2015

BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general, and whether any increase was greater during the 2009 pandemic than during other seasons.METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis was performed for EUROCAT-defined anomaly subgroups, divided by whether there was a prior hypothesis of…

Axionic and nonaxionic electrodynamics in plane and circular geometry

2023

Various aspects of axion electrodynamics in the presence of a homogeneous and isotropic dielectric medium are discussed. 1. We consider first the "antenna-like" property of a planar dielectric surface in axion electrodynamics, elaborating on the treatment given earlier on this topic by Millar {\it et al.} (2017). We calculate the electromagnetic energy transmission coefficient for a dielectric plate, and compare with the conventional expression in ordinary electrodynamics. 2. We consider the situation where the medium exterior to the plate, assumed elastic, is "bent back" and glued together, so that we obtain a circular dielectric string in which the waves can propagate clockwise or counter…

ON THE DEFORMATION QUANTIZATION OF AFFINE ALGEBRAIC VARIETIES

2004

We compute an explicit algebraic deformation quantization for an affine Poisson variety described by an ideal in a polynomial ring, and inheriting its Poisson structure from the ambient space.