Search results for "Pediatric"

The Management of Staphylococcal Toxic Shock Syndrome. A Case Report

2016

Abstract Staphylococcal toxic shock syndrome (TSS) is most frequently produced by TSS toxin-1 (TSST-1) and Staphylococcal enterotoxin B (SEB), and only rarely by enterotoxins A, C, D, E, and H. Various clinical pictures can occur depending on severity, patient age and immune status of the host. Severe forms, complicated by sepsis, are associated with a death rate of 50-60%. The case of a Caucasian female infant, aged seven weeks, hospitalized with a diffuse skin rash, characterized as allergodermia, who initially developed TSS with axillary intertrigo, is reported. TSS was confirmed according to 2011 CDC criteria, and blood cultures positive for Methicillin-sensitive Staphylococcus aureus (…

Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement

2018

Abstract Introduction The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. Methods Geneticists attending a clinical genetics seminar were invited to complete a questionnaire. The statistical analysis was essentially descriptive and an analysis of costs was undertaken. Results Of those responding to the questionnaire, 48% had already prescribed exome analysis and 25% had already had the occasion …

Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases

2016

1Niemann-Pick Disease Group (UK), Tyne and Wear, UK; 2Villa Metabolica, ZKJM, Medical Center, University of Mainz, Mainz, Germany; 3University of Leuven, Leuven, Belgium; 4Hospital Dr. Exequiel Gonzalez Cortes, Santiago, Chile; 5King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; 6Academic Medical Center Hospital of Udine, Udine, Italy; 7Medical Genetics Service, HCPA/UFRGS, Porto Alegre, Brazil; 8University of California San Francisco, San Francisco, CA, USA; 9University of Paris-Diderot, Reference Center for Inborn Errors of Metabolism, Robert-Debre Hospital, Paris, France; 10Akita University School of Medicine, Akita, Japan; 11La Rabta Hospital, Tunis, Tunisia; 12San…

2014

Published version of an article from the journal: Food & Nutrition Research. Also available from the publisher: http://dx.doi.org/10.3402/fnr.v58.23194 Open Access

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…

2017

International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …

Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry

2017

Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

2015

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not unive…

The Burden of Respiratory Syncytial Virus Disease in Pre-Term Infants

2015

This mini-review summarises the risk factors for acquiring Respiratory Syncitial Virus (RSV) infection, and describes the harmful effects of the infection in pre-term infants. Moreover, theoretical considerations are discussed for the prevention of RSV infection in high-risk infant categories, such as pre-term infants. Background: Neonates positive for RSV are more prone to severe infection than neonates infected with other common respiratory viruses. Despite RSV infection being more common in late neonates than in early ones, pre-term infants ≤ 35 wk gestational age (GA) are at high risk for developing severe RSV disease. Efforts to prevent infection include case management, vaccination an…

Validation of the Sepsis MetaScore for Diagnosis of Neonatal Sepsis

2016

What’s known on this subject Neonates are at increased risk for developing sepsis, but this population often exhibits ambiguous clinical signs that complicate the diagnosis of infection. No biomarker has yet shown enough diagnostic accuracy to rule out sepsis at the time of clinical suspicion. What this study adds We show that a gene-expression-based signature is an accurate objective measure of the risk of sepsis in a neonate or preterm infant, and it substantially improves diagnostic accuracy over that of commonly used laboratory-based testing. Implementation might decrease inappropriate antibiotic use. Background Neonatal sepsis can have devastating consequences, but accurate diagnosis i…

Mediterranean dietary pattern in pregnant women and offspring risk of overweight and abdominal obesity in early childhood: the INMA birth cohort study

2016

Summary Background Animal models have suggested that maternal diet quality may reduce offspring obesity risk regardless of maternal body weight; however, evidence from human studies is scarce. Objective The aim of this study was to evaluate associations between adherence to the Mediterranean diet (MD) during pregnancy and childhood overweight and abdominal obesity risk at 4 years of age. Methods We analysed 1827 mother–child pairs from the Spanish ‘Infancia y Medio Ambiente’ cohort study, recruited between 2003 and 2008. Diet was assessed during pregnancy using a food frequency questionnaire and MD adherence by the relative Mediterranean diet score (rMED). Overweight (including obesity) was…