Search results for "and Child Health"

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

2018

Abstract Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. Methods An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. Results It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysacc…

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 …

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…

Association of RBP4 genetic variants with childhood obesity and cardiovascular risk factors

2015

Background Recent data suggest that retinol-binding protein 4 (RBP4) gene variants could be associated with a risk of obesity and its co-morbidities, such as metabolic syndrome, which increases the risk of developing type 2 diabetes mellitus and cardiovascular disease. Objectives The present study examined the potential association of RBP4 single nucleotide polymorphisms (SNPs) with childhood obesity and its metabolic complications. Methods Four RBP4 SNPs, rs3758538 (3944A>C), rs3758539 (4406G>A), rs12265684 (12177G>C) and rs34571439 (14684T>G), were genotyped in a population of 180 Spanish Caucasian children (97 obese and 83 normal-weight children). Association of RBP4 SNPs with obesity, m…

Leukocyte and Skeletal Muscle Telomere Length and Body Composition in Monozygotic Twin Pairs Discordant for Long-term Hormone Replacement Therapy

2017

Estrogen-based hormone replacement therapy (HRT) may be associated with deceleration of cellular aging. We investigated whether long-term HRT has effects on leukocyte (LTL) or mean and minimum skeletal muscle telomere length (SMTL) in a design that controls for genotype and childhood environment. Associations between telomeres, body composition, and physical performance were also examined. Eleven monozygotic twin pairs (age 57.6 ± 1.8 years) discordant for HRT were studied. Mean duration of HRT use was 7.3 ± 3.7 years in the user sister, while their co-twins had never used HRT. LTL was measured by qPCR and SMTLs by southern blot. Body and muscle composition were estimated by bioimpedance an…

Antimicrobial Chemotherapy has a Linear Relationship to the Proportion of Gram-Negative Isolates from Pediatric Burn Wounds.

2018

Wound infection in burns is a relevant cause of morbidity and mortality in children. We aimed to determine the relationship between antibacterial chemotherapy and Gram-negative burn wound colonization and infection. All children admitted to the pediatric intensive care unit for burn trauma from June 1, 2005 to January 31, 2013 were included. We obtained 141 wound samples, of which 88 (65.7%) showed growth of Gram-positive bacteria. Treatment with antimicrobial chemotherapy was necessary in 23 (31.1%) patients. The proportion of Gram-negative isolates seems to increase linear from 12.5% (95% confidence interval (CI): 4.4%-28.7%) without antibacterial chemotherapy to 36.8% (95% CI: 25.5%-49.6…

Effects of Infant Formula With Human Milk Oligosaccharides on Growth and Morbidity: A Randomized Multicenter Trial

2017

Objectives:The aim of the study was to evaluate the effects of infant formula supplemented with 2 human milk oligosaccharides (HMOs) on infant growth, tolerance, and morbidity. Methods:Healthy infants, 0 to 14 days old, were randomized to an intact-protein, cow's milk-based infant formula (control, n=87) or the same formula with 1.0g/L 2fucosyllactose (2FL) and 0.5g/L lacto-N-neotetraose (LNnT) (test, n=88) from enrollment to 6 months; all infants received standard follow-up formula without HMOs from 6 to 12 months. Primary endpoint was weight gain through 4 months. Secondary endpoints included additional anthropometric measures, gastrointestinal tolerance, behavioral patterns, and morbidit…

L'enfant face aux aliments: d'avant-goûts en préférences en programmations

2008

Verbesserung der Impuls- und Emotionsregulation bei Binge-Eating-Störungen

2019

Zusammenfassung. Impulsivität beeinflusst die Verarbeitung von störungsspezifischen Reizen und die Handlungskompetenz hinsichtlich der Nahrungsaufnahme. Neuere Studien adressieren daher unterschiedliche Facetten impulsiven Erlebens und Verhaltens, um eine Reduktion von Essanfällen und des Körpergewichts bei der Binge-Eating-Störung (BES) zu erzielen. ImpulsE ist ein Therapieprogramm zur Verbesserung der Impuls- und Emotionsregulationsfertigkeiten, welches mit einem computergestützten nahrungsbezogenen Inhibitionstraining kombiniert und mit einer Standardbehandlung (TAU) verglichen wurde. N = 31 Personen mit BES nahmen teil (n = 22 ImpulsE, n = 9 TAU). Die Ergebnisse zeigten Verbesserungen …