Search results for "570"

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…

2021

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…

Inhaled nitric oxide as a rescue therapy in a preterm neonate with severe pulmonary hypertension: a case report

2018

Abstract Background Inhaled nitric oxide (iNO) has been approved for the treatment of persistent pulmonary hypertension of the newborn (PPHN) in term and near-term newborns. Its role in the management of persistent pulmonary hypertension in preterm infants is not clear. Although guidelines do not exist, some studies have shown that iNO could be used as a rescue therapy in preterm neonate with severe pulmonary hypertension. Case presentation We describe the case of a preterm neonate, born at 30 + 1 weeks of gestation, with hypoxic respiratory failure not responding to maximal conventional therapy. On the third day of life echocardiography showed severe pulmonary hypertension with right to le…

Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome

2015

Abstract Pulmonary agenesis is a rare congenital disorder with large variability in presentation and prognosis. We describe a full-term infant born with right-sided pulmonary agenesis who underwent thoracoscopic placement of a tissue expander. He ultimately died of pulmonary hypertension. Immunohistology showed intimal hyperplasia without the loss of endothelial caveolin-1 expression. A literature review revealed that while some of these patients have favorable outcome, many succumb despite therapy.

Information and Communication Technologies to Support Early Screening of Autism Spectrum Disorder: A Systematic Review

2021

 The aim of this systematic review is to identify recent digital technologies used to detect early signs of autism spectrum disorder (ASD) in preschool children (i.e., up to six years of age). A systematic literature search was performed for English language articles and conference papers indexed in Pubmed, PsycInfo, ERIC, CINAHL, WoS, IEEE, and ACM digital libraries up until January 2020. A follow-up search was conducted to cover the literature published until December 2020 for the usefulness and interest in this area of research during the Covid-19 emergency. In total, 2427 articles were initially retrieved from databases search. Additional 481 articles were retrieved from follow-up searc…

Significance of I313V mutation of NLPR3 gene in two pediatric patients

2011

Results Both case #1 (M.T) and #2 (V.C) displayed a mild clinical phenotype (episodes of urticarial rash and arthralgia associated with elevation of acute phase reactants), compatible with FCAS and Muckle-Wells syndrome, respectively. Both patients displayed good response to NSAID and/or steroid on demand. Compared to HD controls, patients displayed enhanced and delayed IL1b secretion. This was accompanied by higher levels of lL1Ra and IL-6 without any significant differences in IL-8. Interestingly, parents carrying the mutation also displayed higher levels of secreted IL-1b compared to HD control group. Conclusion The I313V mutation is associated with a mild CAPS phenotype and with an incr…

Risk Factors for Surgical Site Infection in Neonates: A Systematic Review of the Literature and Meta-Analysis

2019

Purpose: Surgical site infections (SSI) contribute to postoperative morbidity and mortality in children. Our aim was to evaluate the prevalence and identify risk factors for SSI in neonates. Methods: Using a defined strategy, three investigators searched articles on neonatal SSI published since 2000. Studies on neonates and/or patients admitted to neonatal intensive care unit following cervical/thoracic/abdominal surgery were included. Risk factors were identified from comparative studies. Meta-analysis was conducted according to PRISMA guidelines using RevMan 5.3. Data are (mean ± SD) prevalence. Results: Systematic review—of 885 abstracts screened, 48 studies (27,760 neonates) were includ…

Adverse Events and Unsuccessful Intubation Attempts Are Frequent During Neonatal Nasotracheal Intubations.

2021

Background: Intubation of neonates is difficult and hazardous. Factors associated with procedure-related adverse events and unsuccessful intubation attempts are insufficiently evaluated, especially during neonatal nasotracheal intubations.Objective: Aim of this study was to determine the frequency of tracheal intubation–associated events (TIAEs) during neonatal nasotracheal intubations and to identify factors associated with TIAEs and unsuccessful intubation attempts in our neonatal unit.Methods: This was a prospective, single-site, observational study from May 2017 to November 2019, performed at a tertiary care neonatal intensive care unit in a German academic teaching hospital. All endotr…

Paediatric oncology: Past, present and future

2016

The Burden of Pediatric Asthma

2018

Asthma is the most common chronic disease in children, imposing a consistent burden on health system. In recent years, prevalence of asthma symptoms became globally increased in children and adolescents, particularly in Low-Middle Income Countries (LMICs). Host (genetics, atopy) and environmental factors (microbial exposure, exposure to passive smoking and air pollution), seemed to contribute to this trend. The increased prevalence observed in metropolitan areas with respect to rural ones and, overall, in industrialized countries, highlighted the role of air pollution in asthma inception. Asthma accounts for 1.1% of the overall global estimate of "Disability-adjusted life years" (DALYs)/100…

Update on perioperative management of the child with asthma

2012

Asthma represents the leading cause of morbidity from a chronic disease among children. Dealing with this disease during the perioperative period of pediatric surgical procedures is, therefore, quite common for the anesthesiologist and other professionalities involved. Preoperative assessment has a key role in detecting children at increased risk of perioperative respiratory complications. For children without an optimal control of symptoms or with a recent respiratory tract infection elective surgery should be postponed, if possible, after the optimization of therapy. According to clinical setting, loco-regional anesthesia represents the desirable option since it allows to avoid airway ins…