Search results for "030225 pediatrics"
showing 10 items of 414 documents
Early intestinal perforation secondary to congenital mesenteric defects
2016
Abstract Gastrointestinal perforation (GIP) in preterm neonates may be idiopathic, due to necrotizing enterocolitis (NEC), or mechanical obstruction. The predominant cause of GIP in the neonatal period is NEC. Differential diagnosis with congenital malformations, including mesenteric defects leading to internal hernias, is mandatory if the onset is early. We describe two newborns with trans-mesenteric herniation resulting in GIP, and we discuss the presence of possible additional risk factors such as prematurity and predisposing vascular disruption in connective tissue disorders (Ehlers-Danlos syndrome), twinning, and use of assisted reproductive technologies. These cases prompted us to rev…
Intestinal Involvement in Kawasaki Disease
2018
Objectives To describe a case of Kawasaki disease with intestinal involvement and to analyze other published reports to define clinical characteristics, diagnostic issues, and therapeutic approaches of gastrointestinal involvement in Kawasaki disease. Study design A computerized search without language restriction was conducted using PubMed and SCOPUS. An article was considered eligible for inclusion in the systematic review if it reported data on patient(s) with intestinal involvement in Kawasaki disease. Our case was also included in the analysis. Results Thirty-three articles reporting 48 cases of Kawasaki disease with intestinal involvement were considered. Fever, abdominal pain, and vo…
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
2019
Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disord…
Impact of Donor Human Milk in the Preterm Very Low Birth Weight Gut Transcriptome Profile by Use of Exfoliated Intestinal Cells
2019
[Background] Own mother’s milk (OMM) is the optimal nutrition for preterm infants. However, pasteurized donor human milk (DHM) is a valid alternative. We explored the differences of the transcriptome in exfoliated epithelial intestinal cells (EEIC) of preterm infants receiving full feed with OMM or DHM.
Sepsis in preterm infants causes alterations in mucosal gene expression and microbiota profiles compared to non-septic twins
2016
Sepsis is a life-threatening condition in preterm infants. Neonatal microbiota plays a pivotal role in the immune system maturation. Changes in gut microbiota have been associated to inflammatory disorders; however, a link with sepsis in the neonatal period has not yet been established. We aimed to analyze gut microbiota and mucosal gene expression using non-invasively obtained samples to provide with an integrative perspective of host-microbe interactions in neonatal sepsis. For this purpose, a prospective observational case-control study was conducted in septic preterm dizygotic twins and their non-septic twin controls. Fecal samples were used for both microbiota analysis and host genome-…
Levels of predominant intestinal microorganisms in 1 month-old full-term babies and weight gain during the first year of life
2021
The early life gut microbiota has been reported to be involved in neonatal weight gain and later infant growth. Therefore, this early microbiota may constitute a target for the promotion of healthy neonatal growth and development with potential consequences for later life. Unfortunately, we are still far from understanding the association between neonatal microbiota and weight gain and growth. In this context, we evaluated the relationship between early microbiota and weight in a cohort of full-term infants. The absolute levels of specific fecal microorganisms were determined in 88 vaginally delivered and 36 C-section-delivered full-term newborns at 1 month of age and their growth up to 12 …
Heritability and genome-wide association analyses of sleep duration in children: The EAGLE Consortium.
2016
STUDY OBJECTIVES: Low or excessive sleep duration has been associated with multiple outcomes, but the biology behind these associations remains elusive. Specifically, genetic studies in children are scarce. In this study, we aimed to: (1) estimate the proportion of genetic variance of sleep duration in children attributed to common single nucleotide polymorphisms (SNPs), (2) identify novel SNPs associated with sleep duration in children, and (3) investigate the genetic overlap of sleep duration in children and related metabolic and psychiatric traits.METHODS: We performed a population-based molecular genetic study, using data form the EArly Genetics and Life course Epidemiology (EAGLE) Cons…
Pediatric routine vaccinations in the COVID 19 lockdown period: the survey of the Italian Pediatric Society
2021
Abstract Background COVID-19 pandemic was responsible for disrupting routine immunization activities all over the world. Aim of the study was to investigate the reduced adherence to the national children vaccination schedule during the lockdown period in Italy. Materials and methods Through social channels, the Italian Pediatric Society conducted a survey among Italian families on children vaccination during lockdown period. Results In the study period, 1474 responders were collected. More than one third (34%) of them skipped the vaccine appointment as they were afraid of SARS-CoV-2-virus (44%), vaccination services postponed the appointment (42%) or was closed to public (13%). Discussion R…
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report
2019
Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. “Pyogenic arthritis, pyoderma gangrenosum and acne syndrome” is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. Case presentation We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid …
No association between Helicobacter pylori infection and gastrointestinal complaints in a large cohort of symptomatic children.
2019
Aim This Polish study estimated the prevalence of the Helicobacter pylori infection in symptomatic children aged 3-18 and investigated its association with gastrointestinal complaints. Methods We prospectively enrolled 1984 children (54% female) with a mean age of 9.5 ± 4.1 years, from Silesia, Poland, for the Good Diagnosis Treatment Life screening programme from 2009 to 2016. They underwent a 13 C-isotope-labelled urea breath test (UBT) to assess their Helicobacter pylori status, making this the biggest Polish study to use this approach. Further analysis included parental-reported gastrointestinal symptoms and standard deviation scores (SDS) of anthropometric measurements. Results The Hel…