Search results for "WB"
showing 10 items of 1688 documents
Comparison of RNA-seq and microarray-based models for clinical endpoint prediction
2015
Background Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint prediction using neuroblastoma as a model. Results We generate gene expression profiles from 498 primary neuroblastomas using both RNA-seq and 44 k microarrays. Characterization of the neuroblastoma transcriptome by RNA-seq reveals that more than 48,000 genes and 200,000 transcripts are being …
Missing Cases of Herpes Simplex Virus (HSV) Infection of the Central Nervous System When the Reller Criteria Are Applied for HSV PCR Testing: a Multi…
2019
ABSTRACT Previous studies suggested that herpes simplex virus (HSV) PCR testing can be safely deferred in patients with normal cerebrospinal fluid (CSF) white blood cell (WBC) counts and protein levels as long as they are older than 2 years of age and are not immunocompromised, the so-called Reller criteria. In this multicenter study, we retrospectively assessed the validity of these screening criteria in our setting. A total of 4,404 CSF specimens submitted for HSV PCR testing to the respective microbiology laboratories at the participating hospitals between 2012 and 2018 were included. Six commercially available HSV PCR assays were used across the participating centers. Ninety-one of the …
Accuracy of the fetal cerebroplacental ratio for the detection of intrapartum compromise in nonsmall fetuses
2018
Objective: To study the accuracy of the cerebroplacental ratio (CPR) for the detection of intrapartum fetal compromise (IFC) in fetuses growing over the 10th centile.Methods: This was a prospective...
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …
A comparison of mothers’ and fathers’ experiences of the attachment process in a neonatal intensive care unit
2008
Aim. To compare mothers’ and fathers’ individual views and experiences of the attachment process in a neonatal intensive care unit within the first week after a premature birth. Background. The attachment between parents and children is a precursor to the consolidation of parenting skills, the growth and development of the infant and the establishment of a bond between parent and child. Premature birth and the resultant hospitalization disrupt the normal attachment process between parent and child. Most of the litteraure on attachment theory focuses on the mother–child connection and is being criticised for regarding the father's role as supportive and peripheral. Methods. The design of …
Autism is a prenatal disorder: Evidence from late gestation brain overgrowth.
2018
This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth…
Patterns of adjuvant chemotherapy for stage II and III colon cancer in France and Italy
2013
European guidelines recommend adjuvant chemotherapy for stage III colon cancer but not for stage II.To determine the extent to which adjuvant chemotherapy was used in Italy and France.A common retrospective database of 2186 colon cancers diagnosed between 2003 and 2005 was analysed according to age, stage and presenting features.38.9% of patients with stage II and 64.6% with stage III received chemotherapy in Italy, 21.7% and 65.1% in France. For stage II, the association between country and chemotherapy was only significant in patients diagnosed out of emergency (ORItaly/France: 3.05 [2.12-4.37], p0.001) whereas patients diagnosed in emergency were as likely to receive chemotherapy in both…
Prognostic time dependence of deletions affecting codons 557 and/or 558 of KIT gene for relapse-free survival (RFS) in localized GIST: a Spanish Grou…
2010
Background: To assess whether deletions involving codons 557 and/or 558 (critical deletions) of exon 11 of KIT are relevant in the prognosis of relapse-free survival (RFS) in gastrointestinal stromal tumor (GIST) patients with a long follow-up. Patients and methods: A univariate and multivariate analysis for RFS were carried out on 162 localized GIST patients over the entire follow-up period and over the intervals 0-4 years and >4 years. Factors assessed among others were Fletcher/National Institutes of Health and Miettinen-Lasota/Armed Forces Institute of Pathology (M-L/AFIP) risk categories, critical deletions and non-deletion-type mutation (NDTM) within exon 11 of KIT. Results: Multivari…
Factors associated with poor adherence to MMR vaccination in parents who follow vaccination schedule.
2014
Due to median vaccination coverage far from elimination level, Italy is still an European country with high number of measles cases per million of people. In this study we explored potential socioeconomic, medical and demographic factors which could influence the propensity of family members for measles vaccination schedule. A cross-sectional study was performed through a questionnaire administered to the parents of children who received the first dose of MMR vaccine in two different vaccination centers in the Palermo area from November 2012 to May 2013. Overall, the role played by internet (OR 19.8 P = 0.001) and the large number of children in a family (OR 7.3 P ≤ 0.001) were the factors …
Knowledge and attitudes towards the use of antibiotics in the paediatric age group: a multicenter survey in Italy
2017
Background : The misuse of antibiotics is one of the leading causes of antibiotic resistance. Paediatric patients are highly involved in this issue, as they are those who receive the largest amount of prescriptions of these drugs. Therefore, this study aimed to investigate the general knowledge regarding the use of antibiotics, as well as the attitudes related to the administration of these drugs to children, amongst parents of children in the paediatric age-group. Methods : In 2014, a multicentre cross-sectional study was conducted amongst parents of children aged 0–14. A questionnaire made up of 33 items was administered in waiting rooms of outpatient departments. Multivariable logistic r…