Search results for "infant"
showing 10 items of 3339 documents
The BioFireFilmArray enables point of care diagnostic in neonatal parechovirus meningitis.
2017
Sir,We read with great interest a report in the present journal on the application of broad-range PCR combined with DNA sequencing for detection of bacteria in cerebrospinal fluid (CSF) [1]. This m...
Role of oxidative stress in neonatal respiratory distress syndrome
2019
Respiratory distress syndrome is the commonest respiratory disorder in preterm infants. Although it is well known that preterm birth has a key role, the mechanisms of lung injury have not been fully elucidated. The pathogenesis of this neonatal condition is based on the rapid formation of the oxygen reactive species, which surpasses the detoxification capacity of anti-oxidative defense system. The high reactivity of free radical leads to damage to a variety of molecules and may induce respiratory cell death. There is evidence that the oxidative stress involved in the physiopathology of this disease, is particularly related to oxygen supplementation, mechanical ventilation, inflammation/infe…
Development and description of New Nordic Diet scores across infancy and childhood in the Norwegian Mother, Father and Child Cohort Study (MoBa)
2021
Abstract In recent years, examining dietary patterns has become a more common way of investigating potential associations between diet and adverse health outcomes. The New Nordic Diet (NND) is a potentially healthy and sustainable dietary pattern characterized by foods that are locally available and traditionally consumed in the Nordic countries. The diet has been typically examined in adult populations, and less is known about compliance to the NND from infancy throughout childhood. In the current study, we therefore aimed to develop and describe child age‐specific NND scores. This study is based on the Norwegian Mother, Father and Child Cohort Study (MoBa) and uses data from the Medical B…
Perinatal nutrition: How to take care of the gut microbiota?
2016
Perinatal and postnatal nutritional environments can result in long-lasting and/or permanent consequences that may increase the risk of chronic diseases in adulthood. The impact of perinatal nutrition on infant microbiome development has been increasingly gaining interest, however scarce information can be found about nutrition on maternal microbiome. The infant microbiome plays an essential role in human health and its assembly is determined by maternal offspring exchanges of microbiota. Microbial colonization runs in parallel with the immune system maturation and has a decisive role in intestinal physiology and regulation. This process is adversely affected by several practices, including…
Association between DNA methylation and ADHD symptoms from birth to school age: a prospective meta-analysis
2020
Funder: Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada); doi: https://doi.org/10.13039/501100000024
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.
2018
Abstract Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite intensive treatment, the survival rates of high-risk neuroblastoma patients are still disappointingly low. Somatic chromosomal copy number aberrations have been shown to be associated with patient outcome, particularly in low- and intermediate-risk neuroblastoma patients. To improve outcome prediction in high-risk neuroblastoma, we aimed to design a prognostic classification method based on copy number aberrations. Methods In an international collaboration, normalized high-resolution DNA copy number data (arrayCGH and SNP arrays) from 556 high-risk neuroblastomas obtained at diagnosis were coll…
Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas
2021
Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. Results: Samples of 70 paediatric sarcomas were processed for histopathological analysis, reverse transcriptase polymerase chain reaction (RT-PCR) and next-generation sequencing (NGS) with a consensus gene panel. Pathogenic alterations were reported and, if existing, targeted recommendations were translated to the clinic. Seventy paediatric patients with sarcomas…
Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…
2020
Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…
Ectopic myoglobin expression is associated with a favourable outcome in head and neck squamous cell carcinoma patients
2016
BACKGROUND/AIM: Ectopic myoglobin (MB) expression, mediated by alternative and hypoxia-inducible transcription, has recently been demonstrated in several epithelial tumours. This study aimed to examine the expression of MB in hormone-independent head and neck squamous cell carcinomas (HNSCCs). PATIENTS AND METHODS: Using imunohistochemistry, ectopic MB expression was analyzed on tissue microarrays (TMAs) of 524 patients with localized and locally advanced primary and recurrent HNSCC who had undergone surgical treatment with curative intent. Associations of MB expression with survival and clinicopathological parameters were analyzed. RESULTS: MB expression was found in 45.8% of HNSCC patient…