Search results for "PRESCHOOL"

Pertussis vaccines--1993.

1993

Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.

2016

Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumor…

A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes

2016

The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…

Comparison of the antibacterial effect of uroepithelial cells from healthy donors and children with asymptomatic bacteriuria

1985

Bacterial attachment to uroepithelial cells (UEC) and the effect of UEC on bacterial growth was investigated in 15 healthy persons and 12 patients suffering from asymptomatic bacteriuria (ABU) with recurrent urinary tract infections (UTI). Desquamated UEC and mannose-resistant Escherichia coli were co-cultivated for up to 90 min. While no difference in bacterial adherence was observed between healthy controls and patients, 33.4% of the bacteria attached to normal UEC were found to be dead under microscopic evaluation (acridine orange staining), whereas no killing effect could be observed in patients' UEC 5 min after the onset of incubation. This phenomenon was confirmed by investigating the…

P and R Wave Detection in Complete Congenital Atrioventricular Block

2009

Complete atrioventricular block (type III AVB) is characterized by an absence of P wave transmission to ventricles. This implies that QRS complexes are generated in an autonomous way and are not coordinated with P waves. This work introduces a new algorithm for the detection of P waves for this type of pathology using non-invasive electrocardiographic surface leads. The proposed algorithm is divided into three stages. In the first stage, the R waves located by a QRS detector are used to generate the RR series and time references for the other stages of the algorithm. In the second stage, the ventricular activity (QT segment) is removed by using an adaptive filter that obtains an averaged pa…

Invasive meningococcal disease in Italy: from analysis of national data to an evidence-based vaccination strategy

2020

Introduction. Invasive meningococcal disease (IMD) is one of the most severe vaccine-preventable diseases not yet under control. In Italy, although different anti-meningococcal vaccines are available, their offer among regions is heterogeneous. The aim of this study is to describe the epidemiology of IMD in Italy based on analysis of national surveillance data for 2011–2017 to optimize the vaccination strategy. Methods: IMD surveillance data from the Italian National Health Institute were analysed. Microsoft Excel was used to present trend analysis, stratifying by age and serogroups. Results: In Italy, during the period 2011–2017, the incidence of IMD increased from 0.25 cases/100,000 inhab…

Syncope in pediatric patients: role of arrhythmias

2009

Body shape trajectories and risk of breast cancer: results from the SUN ('Seguimiento Universidad De Navarra') Project.

2021

AbstractObjective:The aim of this study was to assess body shape trajectories in childhood and midlife in relation to subsequent risk of breast cancer (BC) in a Mediterranean cohort.Design:The ‘Seguimiento Universidad de Navarra’ (SUN) Project is a dynamic prospective cohort study of university graduates initiated in 1999. With a group-based modelling approach, we assessed body shape trajectories from age 5 to 40 years. Multivariable Cox regression models were used to estimate the hazard ratio (HR) for BC after the age of 40 years according to the body shape trajectory.Setting:City of Pamplona, in the North of Spain.Participants:6498 women with a mean age of 40 years (sd9).Results:We identi…

Working memory structure and intellectual disability

2000

The working memory of people with intellectual disability has been found to generally lag behind their mental age. However, studies concerning the structure of working memory or its connections to other cognitive functions are rare. The present study employs a versatile battery of tests for the evaluation of working memory structure in adults with intellectual disability of unknown aetiology. In addition, connections between working memory and cognitive skills valid for everyday functioning are evaluated. Working memory performance in the study participants was found to stem from two distinct components which could be regarded to represent phonological and general working memory. General wo…

A new principle to normalize plasma concentrations allowing single-sample clearance determinations in both children and adults.

1992

A sufficiently accurate quantification of renal function requiring only one plasma sample without an additional gamma-camera study has, until now, only been possible in adults. A new principle will be presented here allowing the universal application of known algorithms, regardless of the clearance substance used, by normalizing the plasma concentrations with respect to the individual body dimensions of the patients - for infants as well as for adults. In this respect, algorithms are developed for clearance determinations using technetium-99m mercaptoacetyltriglycine (99mTc-MAG3), which are based on steady-state studies as the reference. They allow the calculation of quantitative clearance …