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Background: The impact of perioperative care interventions on postreconstructive complications and short-term colorectal outcome in patients with anorectal malformation (ARM) type rectovestibular fistula is unknown.Methods: An ARM-Net consortium multicenter retrospective cohort study was performed including 165 patients with a rectovestibular fistula. Patient characteristics, perioperative care interventions, timing of reconstruction, postreconstructive complications and the colorectal outcome at one year of follow-up were registered.Results: Overall complications were seen in 26.8% of the patients, of which 41% were regarded major. Differences in presence of enterostomy, timing of reconstruction, mechanical bowel preparation, antibiotic prophylaxis and postoperative feeding regimen had no impact on the occurrence of overall complications. However, mechanical bowel preparation, antibiotic prophylaxis >= 48 h and postoperative nil by mouth showed a significant reduction in major complications. The lowest rate of major complications was found in the group having these three interventions combined (5.9%).Multivariate analyses did not show independent significant results of any of the perioperative care interventions owing to center-specific combinations. At one year follow-up, half of the patients experienced constipation and this was significantly higher among those with preoperative mechanical bowel preparation.Conclusions: Differences in perioperative care interventions do not seem to impact the incidence of overall complications in a large cohort of European rectovestibular fistula-patients. Mechanical bowel preparation, antibiotic prophylaxis >= 48 h, and postoperative nil by mouth showed the least major complications. Independency could not be established owing to center-specific combinations of interventions.Type of study: Treatment study. (C) 2019 Elsevier Inc. All rights reserved.

The purpose of the present randomized controlled clinical trial was to compare the use of donkey milk-derived fortifier (DF) with commercial bovine milk-derived fortifier (BF) in very preterm or very-low-birth-weight newborns, in terms of feeding tolerance.This trial included 156 newborns born at32 weeks of gestational age and/or with a birth weight ≤1500 g. Newborns were randomized 1:1 to receive enteral feeding with either a BF-arm, or a new, DF-arm for 21 days. The fortification protocol was the same for both study arms, and the 2 diets were designed to be isoproteic and isocaloric. Feeding tolerance was assessed by a standardized protocol.The risk of feeding intolerance tended to be lower in DF-arm than in BF-arm, with a relative risk reduction of 0.63 (95% confidence interval: -0.29, +0.90). The mean number of episodes per newborn of feeding intolerance and feeding interruptions (any duration) were consistently lower in the DF-arm than in the BF-arm. Episodes of bilious gastric residuals and vomiting were significantly lower in the DF-arm. Time needed to reach full enteral feeding (150 mL · kg · day) and daily weight increase between the first day of exclusive enteral feeding (ie, without administering intravenous fluids) and discharge were similar in the BF- and DF-arms.These results suggest that DF improve feeding tolerance when compared with standard bovine-derived fortifiers, with a similar auxological outcome.

Objectives: Anti-tumor necrosis factor antibodies have led to a revolution in the treatment of inflammatory bowel diseases (IBD); however, a sizable proportion of patients does not respond to therapy. There is increasing evidence suggesting that treatment failure may be classified as mechanistic (pharmacodynamic), pharmacokinetic, or immune-mediated. Data regarding the contribution of these factors in children with IBD treated with infliximab (IFX) are still incomplete. The aim was to assess the causes of treatment failure in a prospective cohort of pediatric patients treated with IFX. Methods: This observational study considered 49 pediatric (median age 14.4) IBD patients (34 Crohn disease, 15 ulcerative colitis) treated with IFX. Serum samples were collected at 6, 14, 22 and 54 weeks, before IFX infusions. IFX and anti-infliximab antibodies (AIA) were measured using enzyme linked immunosorbent assays. Disease activity was determined by Pediatric Crohn's Disease Activity Index or Pediatric Ulcerative Colitis Activity Index. Results: Clinical remission, defined as a clinical score 3.11 μg/mL emerged as the strongest predictor of sustained clinical remission. AIA concentrations were correlated inversely with IFX concentrations and directly with adverse reactions. Conclusions: Most cases of therapeutic failure were associated with low serum drug levels. IFX trough levels at the end of induction are associated with sustained long-term response.

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Objective The COVID-19 pandemic and associated quarantine measures highly impacted parental psychological well-being. Parents of children with chronic diseases might be specifically vulnerable as they already face multiple challenges to provide adequate care for their child. The research questions of the current study were twofold: (a) to examine whether parents of children with a chronic disease experienced more anxiety and depression compared to parents of healthy children and (b) to examine a series of risk factors for worsened well-being (i.e., depression, anxiety, and sleep problems), such as sociodemographic variables, COVID-19-specific variables (i.e., financial worries, living space, and perceived quality of health care), and parental psychological experiences (i.e., parental burn-out and less positive parenting experiences). Methods Parents of children with a chronic disease (i.e., the clinical sample; N = 599 and 507 for Research Questions 1 and 2, respectively) and parents of healthy children (i.e., the reference sample: N = 417) filled out an online survey. Results Findings demonstrated that the parents in the clinical sample reported higher levels of anxiety than parents in the reference sample. Analyses within the clinical sample indicated that COVID-19-specific stressors and parental psychological experiences were associated with higher levels of anxiety, depression, and sleep problems. Mediation analyses furthermore indicated that the association of COVID-19-specific stressors with all outcome measures was mediated by parental burn-out. Conclusions Parents of children with a chronic disease constitute a vulnerable group for worse well-being during the current pandemic. Findings suggest interventions directly targeting parental burn-out are warranted.

Objective: Patients with severe asthma require high-dose inhaled corticosteroids, with or without add-on treatments, to maintain asthma control. Because symptom control remains unsatisfactory in some patients despite these therapies, maintenance therapy with oral corticosteroids (OCS) remains considered a treatment option by physicians. Besides physician-diagnosed exacerbations, many patients intermittently self-medicate with OCS during episodes of worsening symptoms or as a prevention of such episodes. However, long-term OCS use is associated with several comorbidities that may decrease health-related quality of life, worsen prognosis, and should ideally require monitoring and management. In this review, we discuss the adverse effects of OCS use, the OCS-sparing effect of biologics in severe asthma, and the need for optimal referral pathways to ensure the best outcomes for those at-risk asthma patients. Data sources: PubMed. Study selection: Studies with results on the OCS-sparing effect of biologics in adult severe asthma were selected. Results: Chronic and intermittent OCS use in asthma is associated with considerable adverse effects in asthma. Omalizumab, mepolizumab, benralizumab, and dupilumab reduce the need for OCS in severe asthma, while also reducing the exacerbation rate and improving several patient-related outcomes. Conclusion: Targeted biologic therapies have revolutionized the treatment of uncontrolled severe asthma by reducing or even eliminating the need for OCS and improving other major outcomes. Novel agents are now rapidly increasing the therapeutic armamentarium, but additional efforts are needed to optimize referral pathways in order to ensure sustainable access to these therapies.

The World Health Organization recommends deworming to reduce soil-transmitted helminth (STH)-attributable morbidity in women of reproductive age, including pregnant and lactating women, to reduce blood loss, iron deficiency anaemia and nutrient malabsorption. This study assessed the impact of maternal postpartum deworming with albendazole approximately 1 day after delivery on infant milk intake among a subset of 216 randomly selected mother-infant pairs recruited into a large trial in Peru. Infant milk intake was measured using the deuterium-oxide method at 1- and 6-month postpartum. Maternal STH infection was measured at 6-month postpartum. At 1-month postpartum, mean intake was 756 +/- 16 and 774 +/- 18 mL day(-1) in the albendazole and placebo groups, respectively (mean difference: -18 mL day(-1); 95% CI: -65, 30). At 6-month postpartum, mean intake was 903 +/- 16 and 908 +/- 18 mL day(-1) in the albendazole and placebo groups, respectively (mean difference: -5 mL day(-1); 95% CI: -52, 43). There was no statistically significant difference in milk intake between groups at either time point. At 6-month postpartum, mothers infected with Trichuris trichiura had infants with higher milk intakes (adjusted mean difference: 70 mL day(-1); 95% CI: 20, 120) compared with uninfected mothers. However, there was no statistically significant difference in infant milk intake between mothers who had moderate-and-heavy intensity infection compared with the comparison group (mothers with no and light intensity infection). A lower prevalence and intensity of infection, and inclusion of uninfected mothers in both arms of the trial, resulting in effect dilution, may explain the null findings.

Objectives: Although males and females gain comparable weight when prescribed second-generation antipsychotics (SGAs), males may be uniquely vulnerable to an array of endocrinological, inflammatory...

Background Children with severe congenital heart disease (CHD) are a group of children at risk for neurodevelopmental impairments. Motor development is the first domain to show a delay during the first year of life and may significantly contribute to parental concerns, stress, and difficulties in early child-parent attachment. Thus, the aim of the study was to better understand the wishes and concerns of parents of children with CHD and explore their experience of their children’s neuromotor development in the first year of life. Methods In this qualitative study, fourteen families were recruited. Their children were aged 1–3 years and had undergone open heart surgery within the first 6 months of life. Semi-structured interviews were audio-recorded and transcribed. The data was explored within an expert group, and a qualitative content analysis was conducted using VERBI MAXQDA software 2020. The study was conducted in accordance with the COREQ checklist. Results Parents of children with CHD reported several burdens and needs. Parental burdens concerned the child’s motor development, their own physical and psychological strain, and difficulties in communication with healthcare professionals. The needs, parents reported included supporting their child’s motor development, a medical coordinator, and better communication between healthcare professionals and parents. During the first phase of their children’s illness, parents underwent a dynamic transitional phase and expressed the need to rely on themselves, to trust their children’s abilities, and to regain self-determination in order to strengthen their self-confidence. Conclusions It is essential to involve parents of children with CHD at an early stage of decision-making. Parents are experts in their children and appreciate medical information provided by healthcare professionals. Interprofessional teamwork, partnering with parents, and continuous support are crucial to providing the best possible care for children and their families. Family-centred early motor intervention for CHD children might counteract the effect of parental overprotection and improve children’s motor development and thus strengthen child-parent interaction. In future work, we aim to evaluate a family-centred early motor intervention for children with CHD developed on the basis of this qualitative study. Trial registration Not applicable.

Background. Introduction of prelacteal feeds to newborn babies negates the recommendation of the World Health Organization that breastfeeding should be initiated within an hour after childbirth. As a result, many known health benefits of breastfeeding for infants, children and mothers are precluded. Therefore, to obviate the harmful effects of prelacteal feeding, it remains of paramount concern to identify the current status of prelacteal feeding and its contributing factors. Objective. To assess the prevalence of prelacteal feeding and associated factors among mothers of under-24-month-old children in Arba Minch Zuria District, Ethiopia. Methods. A community-based cross-sectional study was conducted among 400 mother/caregiver-child pairs. A structured and pretested questionnaire uploaded on mobile devices pre-installed with open data kit software was used for data collection. Factors associated with prelacteal feeding practices were explored using multivariable logistic regression analysis. The Hosmer-Lemeshow goodness-of-fit test was used to determine whether the model adequately described the data or not. Results. A total of 400 mothers/caregivers participated in the study, of whom 67 (16.8%) practised prelacteal feeding. Mothers who had poor knowledge of breastfeeding were nearly four times more likely to practise prelacteal feeding than those who had good knowledge (adjusted odds ratio (aOR) 3.95; 95% confidence interval (CI) 1.82 - 8.54). Mothers who did not receive counselling on breastfeeding during antenatal care (ANC) follow-up were 4.1 times more likely to provide prelacteal feeds than those who received counselling (aOR 4.1; 95% CI 1.70 - 9.76). Furthermore, mothers who did not receive immediate postnatal care were 6.46 times more likely to give prelacteal feeding than those who received immediate postnatal care (aOR 6.46; 95% CI 2.85 - 14.63). Conclusions. One out of six neonates was given prelacteal feeds in the study area. Poor knowledge among mothers about breastfeeding, lack of counselling on optimal breastfeeding during ANC visits, and lack of immediate postnatal care mainly led to prelacteal feeding. Therefore, attention should be given to improving maternal knowledge of breastfeeding through the refining of skilled counseling during ANC and immediate postnatal care

Physical activity (PA) can improve children’s executive functioning (EF), which might be caused by increased levels of brain-derived neurotrophic factor (BDNF). This study investigated whether acute and/or chronic PA leads to increased BDNF levels and enhanced EF in children. Methods: In total, 47 children (mean age 9.69 ± 0.60; 46.8% boys) participated. Children performed a maximal exercise test to measure acute PA. Before and after, BDNF was collected and EF was measured. Chronic PA was proxy-reported. Repeated Measures ANOVAs were performed to study the effect of acute PA on BDNF and EF. Mediation analyses were performed to investigate the mediation effect of BDNF on the association between chronic PA and BDNF. Results: A borderline significant effect of acute PA on BDNF was found (F = 3.32, p = 0.075) with an increase in BDNF (+29.58 pg/mL) after acute PA. A significant effect was found for performance on inhibition tasks (Flanker (accuracy +5.67%, p = 0.034) and Go/No-Go (+0.15%, p = 0.022)). No effect of acute PA was found on the EF outcomes. No significant correlation between chronic PA and EFs nor BDNF was found. Conclusions: Acute PA might increase BDNF and improve some EFs (i.e., inhibition) in children. Chronic PA was not associated with EF nor BDNF. Trial Registration Number: NCT02503579.

Background Automated wearable cameras present a new opportunity to accurately assess human behavior. However, this technology is seldom used in the study of adolescent’s screen exposure, and the field is reliant on poor-quality self-report data. Objective This study aimed to examine adolescents’ screen exposure by categorizing the type and context of behaviors using automated wearable cameras. Methods Adolescents (mean age 15.4 years, SD 1.6 years; n=10) wore a camera for 3 school evenings and 1 weekend day. The camera captured an image every 10 seconds. Fieldwork was completed between February and March 2020, and data were analyzed in August 2020. Images were date and time stamped, and coded for screen type, content, and context. Results Data representing 71,396 images were analyzed. Overall, 74.0% (52,842/71,396) of images contained screens and 16.8% (11,976/71,396) of images contained multiple screens. Most screen exposures involved television sets (25,950/71,396, 36.3%), smartphones (20,851/71,396, 29.2%), and laptop computers (15,309/71,396, 21.4%). The context of screen use differed by device type, although most screen exposures occurred at home (62,455/64,856, 96.3%) and with solitary engagement (54,430/64,856, 83.9%). The immediate after-school period saw high laptop computer use (4785/15,950, 30.0%), while smartphone use (2059/5320, 38.7%) peaked during prebedtime hours. Weekend screen exposure was high, with smartphone use (1070/1927, 55.5%) peaking in the early morning period and fluctuating throughout the day. Conclusions There was evidence for high screen use during the after-school and weekend period, mostly through solitary engagement, and within the home environment. The findings may inform the basis of larger studies aimed at examining screen exposure in free-living conditions.

Aim: To investigate whether the early administration of Euphrasia eye drops® in preterm neonates presenting with ocular discharge fosters the resolution of the ocular discharge and reduces the need for topical antibiotic therapy, as compared to placebo. Methods: We conducted a randomized double-blind placebo-controlled trial at the University Children's Hospital Bern, Switzerland. Preterm neonates with white, yellow, or green ocular discharge were included. Infants were randomly assigned (1:1) to the Euphrasia arm (Euphrasia eye drops®, Weleda AG, Arlesheim) or the placebo arm (NaCl 0.9%). Euphrasia or placebo was administrated at a dose of one drop in each eye four times a day over a period of 96 h. The primary outcome was the treatment success, defined as no ocular discharge at 96 h and no use of topical antibiotic therapy during the 96-h intervention. Results: A total of 114 neonates were screened and 84 were randomized. Among neonates in the Euphrasia arm, 22 (55.0%) achieved our primary outcome compared to 21 (51.2%) in the placebo arm (p = 0.85). In the Euphrasia arm, time to resolution of reddening tended to fall within the shorter bracket of 24 to 48 h (24 (92.3%) vs. 12 (80.0%) in the placebo arm, p = 0.34) and relapse or first signs of reddening during the 96-h intervention tended to be lower [3 (7.9%) eyes vs. 8 (18.2%) eyes in the placebo arm, p = 0.17]. Tearing at 96 h tended to be lower in the Euphrasia arm [5 (12.8%) eyes in the Euphrasia arm vs. 12 (27.3%) eyes in the placebo arm, p = 0.10]. Discussion: Euphrasia did not significantly improve treatment success, defined as no ocular discharge at 96 h and no use of topical antibiotic therapy during the 96-h intervention. However, results suggest that Euphrasia may be of benefit for symptoms such as reddening and tearing, and thus improve the comfort of patients. Trial Registration: The trial is registered at the US National Institutes of Health (ClinicalTrials.gov) NCT04122300 and at the portal for human research in Switzerland SNCTP000003490.

Regelmasige Debriefings (Nachbesprechungen) kritischer Ereignisse in der Kindernotfallversorgung konnen das Patienten-Outcome und die Teamzusammenarbeit verbessern. Die Reflexion ermoglicht Lernen in Teams, um in Zukunft besser zu werden und die Wiederholung von Fehlern zu vermeiden. Allerdings werden Debriefings im klinischen Alltag noch immer unregelmasig und qualitativ unzureichend durchgefuhrt. Ursachen sind mangelnde Zeit, Fehlen erfahrener Debriefer und fehlende Unterstutzung durch Verantwortungstrager. Debriefings konnen je nach Bedarf zu unterschiedlichen Zeitpunkten mit unterschiedlicher Dauer stattfinden: kurze „hot debriefings“ noch am Tag des Geschehens oder langere „cold debriefings“ einige Tage spater. Im Mittelpunkt stehen immer das Lernen und Erarbeiten zukunftsorientierter Losungen. Ausloser zur Durchfuhrung von Debriefings konnen neben akut lebensbedrohlichen Ereignissen auch potenziell kritische Situationen, wie z. B. Intubationen, sein. Eine Strukturierung von Nachbesprechungen durch Debriefing-Skripte erleichtert die Durchfuhrung und ermoglicht auch unerfahrenen Moderatoren, alle Aspekte abzuarbeiten. Neben der Diskussion schwieriger Ablaufe sollten unbedingt positive Aspekte besprochen werden, um diese zu bestarken und das Lernen am positiven Beispiel zu ermoglichen. Dabei sollten die Beweggrunde eines Verhaltens erfragt und nicht nur die nach ausen sichtbaren Leistungen bewertet werden. Damit kann ein bedarfsorientiertes Lernen mit Erarbeitung von Losungen stattfinden. Hilfreich sind spezielle Fragetechniken, ehrliches Interesse und eine positive Sicherheitskultur.

Question 1 What is the diagnosis in this patient? Brain abscess Acute suppurative mastoiditis Optic neuritis Cerebral venous sinus thrombosis Subdural haematoma Question 2 What are the most common clinical presentations of this condition? Question 3 How should this patient be managed? Answers can be found on page 2.

Objectives To assess the optimal setting of the predictive low glucose management (PLGM) algorithm for preventing exercise-induced hypoglycemia in adolescents with type 1 diabetes. Methods Thirty-four adolescents, 15 to 20 years, wearing PLGM system, were followed during 3 days exercise during a diabetes camp. PLGM threshold was set at 70 mg/dL between 8 am and 10 pm and 90 mg/dL during 10 pm and 8 am Adolescents were divided into group A and B, with PLGM threshold at 90 and 70 mg/dL, respectively, during exercise. Time spent in hypoglycemia and AUC for time slots 8 am to 1 pm, 1 to 4 pm, 4 to 11 pm, 11 pm to 3 am, 3 to 8 am, in 3 days were compared between groups by Wilcoxon rank sum test. Results We analyzed 31 patients (median age 15.0 years, 58.1% males, median diabetes duration 7.0 years, hemoglobin A1c [HbA1c] 7.1%). No significant difference has been observed in time spent in hypoglycemia between groups using threshold 70 or 90. Time spent in target was similar in both groups, as well as time spent in hypo or hyperglycemia. The trends of blood glucose over the 3 days in the 2 groups over-lapped without significant differences. Conclusions A PLGM threshold of 90 mg/dL during the night was associated with reduced time in hypoglycemia in adolescents doing frequent physical exercise, while maintaining 65.1% time in range during the day. However, a threshold of 70 mg/dL seems to be safe in the duration of the physical exercise. PLGM system in adolescents with type 1 diabetes was effective to prevent hypoglycemia during and after exercise, irrespective of the PLGM thresholds used.

Bronchopulmonary dysplasia (BPD) is the most prevalent chronic lung disease in infants and presents as a consequence of preterm birth. Due to the lack of effective preventive and treatment strategies, BPD currently represents a major therapeutic challenge that requires continued research efforts at the basic, translational, and clinical levels. However, not all very low birth weight premature babies develop BPD, which suggests that in addition to known gestational age and intrauterine and extrauterine risk factors, other unknown factors must be involved in this disease's development. One of the main goals in BPD research is the early prediction of very low birth weight infants who are at risk of developing BPD in order to initiate the adequate preventive strategies. Other benefits of determining the risk of BPD include providing prognostic information and stratifying infants for clinical trial enrollment. In this article, we describe new opportunities to address BPD's complex pathophysiology by identifying prognostic biomarkers and develop novel, complex in vitro human lung models in order to develop effective therapies. These therapies for protecting the immature lung from injury can be developed by taking advantage of recent scientific progress in -omics, 3D organoids, and regenerative medicine.

BACKGROUND: Conditions leading to reduced gastric volume are difficult to manage and are associated to poor quality-of-life. Stomach augmentation using a tissue-engineered stomach is a potential solution to restore adequate physiology and food reservoir. Aim of this study was to evaluate the decellularisation of whole rat stomach using a detergent-enzymatic protocol. METHODS: Stomachs harvested from rats were decellularised through luminal and vascular cannulation using 24-h detergent-enzymatic treatment and completely characterized by appropriate staining, DNA and Extracellular matrix -component quantifications. RESULTS: The detergent-enzymatic protocol allows a complete decellularisation of the gastric tissue, with a complete removal of the DNA with two cycles as confirmed by both quantifications and histological analysis. Extracellular matrix components, collagen, fibronectin, laminin and elastin, were optimally preserved by the treatment, while glycosaminoglycans were reduced. CONCLUSION: Gastric tissue can be efficiently decellularised. Scaffolds retained original structure and important components that could enhance integration with other tissues for in vivo transplant. The use of naturally derived material could be potentially considered for the treatment of both congenital and acquired conditions. ispartof: PEDIATRIC SURGERY INTERNATIONAL vol:35 issue:1 pages:21-27 ispartof: location:ITALY, Taormina status: published

To identify developmental trajectories of hand function in infants aged 3 months to 12 months with unilateral cerebral palsy (CP).Infants at high risk of unilateral CP were recruited from 3 months of age from follow-up programmes and clinics in Sweden, the Netherlands, Italy, and Australia. Measurements on the Hand Assessment for Infants (HAI) were completed until 12 months of age. Group-based trajectory modelling was used to identify subgroups of infants with similar trajectories of development. Multinomial logistic regression determined associations between demographic variables and trajectory membership.Ninety-seven infants (52 males, 45 females; median gestational age 38wks [interquartile range 30-40wks]) were included. Infants were assessed between two and seven times (mean 4, SD 1.2) with a total of 387 observations. A three-group trajectory model identified a 'low-functioning group' (n=45: 46%), 'moderate-functioning group' (n=30: 31%), and 'high-functioning group' (n=22: 23%). Mean posterior probabilities (0.91-0.96) and odds of correct classification (26.3-33.2) indicated good model fit. Type of brain lesion, sex, side of hemiplegia, country, gestational age, and access to intensive intervention were not associated with group membership.Three trajectories of hand function development for infants with unilateral CP were identified and indicate some greater distinctions between groups with increasing age. The HAI is a valuable measure, capturing development of hand function of infants with unilateral CP over time.Three distinct developmental trajectories of hand function in infants with unilateral cerebral palsy were identified. A low-functioning group made little progress in development of hand function in the first year of life. The degree of impairment on the impaired hand at 6 months of age is highly associated with trajectory membership. Infants with all types of brain lesion were represented across each trajectory group.DESARROLLO DE LA FUNCIÓN MANUAL DURANTE EL PRIMER AÑO DE VIDA EN NIÑOS CON PARÁLISIS CEREBRAL UNILATERAL: OBJETIVO: Identificar la trayectoria del desarrollo de la función manual en niños de 3 a 12 meses con parálisis cerebral unilateral (PC).Fueron evaluados niños con alto riesgo de PC unilateral desde los 3 meses de edad en programas de seguimiento en clínicas en Suecia, Países Bajos, Italia y Australia. Las mediciones con la Hand Assessment for Infants (HAI) fueron completadas hasta los 12 meses de edad. Se utilizó la trayectoria modelada de un grupo basal para identificar subgrupos de niños con similar trayectoria de desarrollo. La regresión logística multinomial determinó las asociaciones entre las variables demográficas y la pertenencia a la trayectoria.Noventa y siete niños (52 masculinos, 45 femeninos; edad gestacional media 38 semanas [rango 30-40 semanas]) fueron incluidos. Los niños fueron evaluados entre dos y siete veces (media 4, SD 1,2) con un total de 387 observaciones. Un modelo de trayectoria de tres grupos identificó un¨ grupo de bajo funcionamiento¨(n=45: 46%), un ¨grupo de moderado funcionamiento¨ (n=30: 31%), y un ¨grupo de alto funcionamiento¨ (n=22: 23%). La probabilidad media posterior (0,91-0,96) y las probabilidades de clasificación correcta (26,3-33,2) indicaron un buen ajuste del modelo. El tipo de lesión cerebral, sexo, localización de la hemiplejía, país, edad gestacional y el acceso a la intervención no fue asociado a la membresía del grupo.En niños con PC unilateral fueron identificados tres trayectorias del desarrollo de la función manual, los cuales indicaron mayor distinción entre los grupos a mayor edad. El HAI es una medida valiosa, capturando el desarrollo de la función manual de los niños con PC bilateral en el tiempo.DESENVOLVIMENTO DA FUNÇÃO MANUAL DURANTE O PRIMEIRO ANO DE VIDA EM CRIANÇAS COM PARALISIA CEREBRAL UNILATERAL: OBJETIVO: Identificar trajetórias de desenvolvimento da função manual em lactentes com idade entre 3 e 12 meses com paralisia cerebral unilateral. MÉTODOS: Lactentes com alto risco para paralisia cerebral unilateral foram recrutadas aos 3 meses de idade em programas de follow-up e clínicas na Suécia, Países Baixos, Itália e Austrália. Medidas da Avaliação manual para lactentes (AML) foram realizadas até os 12 meses de idade. A modelagem de trajetória baseada em grupos foi usada para identificar subgrupos de lactentes com trajetórias similares de desenvolvimento. Uma regressão logística multinomial determinou associações entre variáveis demográficas e a trajetória utilizada. RESULTADOS: Noventa e sete lactentes (52 do sexo masculino e 45 do sexo feminino; mediana da idade gestacional de 38 semanas [intervalo interquartil 30-40 semanas]) foram incluídos. Os lactentes foram avaliados entre duas e sete vezes (média 4, DP 1,2) com um total de 387 observações. Um modelo de trajetória de três grupos identificou um ‘grupo de baixa função’ (n= 45: 46%), ‘grupo de moderada função’ (n=30: 31%) e ‘grupo de alta função’ (n=22: 23%). Probabilidades posteriores médias (0,91-0,96) e chances de classificação correta (26,3-33,2) indicaram bom ajuste do modelo. O tipo de lesão cerebral, sexo, lado da hemiplegia, país, idade gestacional e acesso a intervenção não foram associados a participação no grupo. INTERPRETAÇÃO: Três trajetórias de desenvolvimento de função manual para lactentes com paralisia cerebral unilateral foram identificados e demonstram maiores diferenças entre os grupos com o aumento da idade. A AML é uma medida valiosa, capturando o desenvolvimento da função manual em lactentes com paralisia cerebral unilateral ao longo do tempo.

Background/Objective: Lifestyle modification is the therapy of choice for childhood obesity, yet the response rate is variable and may be affected by genetic factors. We aimed to investigate predictors of poor response to lifestyle modification obesity treatment in children. Methods: A prospective cohort study of 434 youths (64.5% females) between 4 and 20 years of age undergoing a standard care of lifestyle modification obesity management for 35.9 ± 20.8 months at Yale Childhood Obesity Clinic, USA. The primary outcome was a “poor response,” defined as the quintile with the largest increase in BMI Z-score over time. The secondary outcome was the endpoint BMI Z-score. Covariates investigated were sex, baseline pubertal status and degree of obesity, race, biochemical profile, and family history of overweight. A subsample (n = 214) had FTO genotyping (SNP rs8050136) tested. Results: Males (hazard ratio [HR] = 5.35, 95% confidence interval [CI] [3.32-8.61], P < 0.0001) and pubertal adolescents (HR = 2.78, [1.40-5.50], P = 0.003) compared to prepubertal children were more prone to respond poorly. Baseline degree of obesity was associated with relative protection from responding poorly (HR per BMI Z-score unit = 0.32, [0.17-0.61], P = 0.0006). Carriers of the FTO obesity-predisposing allele (AA genotype) were protected from responding poorly compared to non-carriers (CC genotype) (HR = 0.33, [0.12-0.88], P = 0.028). Conclusions: Boys and pubertal adolescents are more prone to respond poorly to standard obesity care while those with greater baseline degree of obesity and carriers of the FTO obesity-predisposing allele are not. (Less)

Purpose: To assess the outcome of free tenotomy of the medial rectus muscle in post-natal monkeys. Methods: The medial rectus muscle was disinserted in both eyes of 6 macaques at age 4 weeks to induce an alternating exotropia. After the impact on the visual cortex and superior colliculus was investigated, the animals were examined post-mortem to assess the anatomy of the medial rectus muscles. Results: After tenotomy, the monkeys eventually recovered partial adduction. Necropsy revealed that all 12 medial rectus muscles had reattached to the globe. They were firmly connected via an abnormally long tendon, but at the native insertion site. Conclusions: Medial rectus muscles are able to reattach spontaneously to the eye following free tenotomy in post-natal macaques. The early timing of surgery and the large size of the globe relative to the orbit may explain why reinsertion occurs more readily in monkeys than in children with a lost muscle after strabismus surgery. [ J Pediatr Ophthalmol Strabismus . 2018;55(5):335-338.]

Background The GAS study is an international RCT to evaluate neurodevelopmental outcome comparing general plus regional anesthesia versus regional anesthesia alone in 722 neonates and infants who had inguinal hernia repair up to 60 weeks of postmenstrual age. This paper comprises a secondary descriptive analysis of hernias, aspects of surgery and outcomes. Methods The incidence of unilateral and bilateral hernias, side preponderance, predictive factors for bilateral hernias and surgical approaches were collated. Follow-up outcome data were examined at 2 years. Results Of 711 eligible patients, there were 679 with hernia data showing that 321 hernias were right-sided, 190 left and 168 bilateral. Male to female ratio was 5:1. Of those with unilateral hernias, 25.8% underwent contralateral exploration and in these cases a patent processus vaginalis was found in 68.9%. Bilateral hernias were more common in younger and female patients. At 2 years there was a recurrence rate of 0.99% and in 2.7% of patients a hernia was evident on the contralateral side (metachrony), and this was unrelated to the anesthesia technique. Conclusions Bilateral hernias are associated with lower gestational age at birth and female gender. There was a low incidence of complications and the anesthesia technique did not affect surgical outcome. Level of evidence Level 1 evidence from prospective treatment study.

Linee guida della Società Italiana di Videochirurgia Infantile Le Linee Guida della Società Italiana di Videochirurgia Infantile (SIVI) sono uno strumento semplice e pratico redatto ed approvato dal Consiglio Direttivo della Società. Esse sono frutto di un lungo lavoro di revisione sistematica della letteratura integrato dal parere di esperti nel campo della Chirurgia Mininvasiva Pediatrica. Queste linee guida sono intese ad aiutare il chirurgo pediatra che si avvicina, o già pratica, la Chirurgia Mininvasiva, ed hanno lo scopo di facilitare la scelta dell’indicazione e del trattamento chirurgico ottimale per le principali patologie chirurgiche pediatriche. Tuttavia, data la complessità delle malformazioni congenite, delle patologie chirurgiche pediatriche e l’estrema varietà dell’ambiente sanitario, è importante sottolineare come l’approccio suggerito potrebbe non essere necessariamente l’unico approccio accettabile e/o percorribile. Le linee guida devono essere considerate uno strumento flessibile in quanto poi è il medico che, con il consenso dei genitori/tutori, avrà il compito di scegliere l’approccio più adatto al singolo paziente. Tale approccio sarà attuato in scienza e coscienza ed in base alla patologia ed alle eventuali variabili esistenti al momento della decisione. La massima accessibilità possibile alle Linee Guida è garantita dalla loro pubblicazione sulla rivista ufficiale della SIVI: La Pediatria Medica e Chirurgica. Il progetto Linee Guida è stato approvato dall’assemblea generale del Congresso SIVI 2016 di Madrid.

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

The distribution of the cutaneous manifestations in neurocutaneous disorders is not casual; rather, it reflects predetermined patterns of skin arrangements, due to the action of the underlying genes, proteins, and/or metabolic pathways on the skin texture and appendages. These patterns of distribution are pathognomonic for each neurocutaneous disorder and can occur either in specific areas of the body (e.g., the forehead, the face, the trunk, the nails, one limb or one of more segments of the body) or following specific lines (e.g., lines of Blaschko) or taking peculiar shapes (e.g., leaf-like, ovoid, whorled, “S” or “V” shaped). These patterns of abnormal skin often mirror similar phenomena in extra-cutaneous organs/tissues, principally in the central nervous system but also in the eye, bone, heart/vessels, lung, kidney, and gut. A classification system, including several patterns of cutaneous arrangements (archetypical patterns) was proposed by the German dermatologist Rudolf Happle in 1993 and later expanded until 2014: this classification, originally meant to broadly explain (genetic and nongenetic) mosaic skin disorders and phenomena, was later expanded to explain the patterns of distribution of skin manifestations in some autosomal dominant skin disorders (genodermatoses). Currently, we recognize: (1) six archetypical patterns, including type 1 “along the lines of Blaschko” in (a) narrow or (b) large bands, type 2 “checkerboard” pattern, type 3 “phylloid” pattern, type 4 “patchy pattern without midline separation,” type 5 “lateralization” pattern, and type 6 “sash-like” pattern; (2) three less well-defined (so far unclassifiable) archetypical patterns, including (a) a diffuse hypopigmentation of the trunk versus smaller areas of normal skin on a unilateral aspect of the thorax and a segmental hyperpigmentation involving both arms and the trunk, (b) an “atypical” pattern along the Blaschko's lines, (c) the “mesotropic facial pattern,” and (iii) segmental manifestations of monogenic disorders, including (type 1) segmental areas of skin affected with the typical manifestations of a disease associated to otherwise unaffected skin and (type 2) segmental areas of skin affected with a very pronounced degree of the typical skin manifestations of a disease. In this article we review the existing literature on the early history of Blaschko's lines, the presentation of the (well-defined and unclassified) archetypical patterns and the segmental manifestations of monogenic disorders tailoring these concepts to neurocutaneous disorders.

Speckled lentiginous nevus syndrome is a rare neurocutaneous phenotype, characterized by a specked lentiginous nevus, appearing as a light brown macule superimposed by multiple melanocytic nevi in the form of macules or papules with uneven distribution, associated with ipsilateral neurological and musculoskeletal abnormalities (i.e., dysesthesia, hyperhidrosis, and musculoskeletal abnormalities) occur. It represents a mosaic phenotype disorder resulting from postzygotic loss of heterozygosity, due to a localized defect in neural crest melanoblasts that originate certain areas of the skin and some ipsilateral neurological and musculoskeletal cells. Environmental and genetic factors may also play a role, but it has not been clarified how these factors behave in this syndrome.

The simultaneous occurrence of a patch of light or dark brown hyperpigmentation with hypertrichosis (Becker's nevus) together with (usually ipsilateral) soft tissues hypoplasia (especially breast, in women) and underlying skeletal anomalies (i.e., vertebral hypoplasia, scoliosis, pectus carinatum or excavatum) represents the Becker's nevus syndrome (BNS) phenotype. It was first described (as a single cutaneous lesion) by Becker in 1949 and then associated with the surrounding musculoskeletal disorders. The syndrome has also been reported as pigmentary hairy epidermal nevus syndrome. Less than 100 cases have been reported in the literature, with a slightly higher incidence in females and only few familiar cases: paradominant postzygotic mutations and/or an androgen-dependent hyperactivation have been reported as the causes of the diseases.The extracutaneous lesions are congenital and nonprogressive, and the natural history of the Becker's nevus is the same as that of isolated nevi: in prepubertal boys, the pigmentation may be less intense and the hairiness may be absent or mild, as occurs in women, whereas in men, there is an increase of hairiness after puberty. The treatment is essentially cosmetic, and potential therapeutic options include electrolysis, waxing, makeup, or laser.

Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the cause of the clinical picture of the syndrome. Less than 80 patients have been so far reported and their clinical manifestations consisted of unilateral lipomatous hamartoma of the scalp or eyelid, epibulbar choristomas, and ipsilateral brain malformations. There is no clinical correlation between the severity of brain malformations and the clinical manifestations, and many patients with extremely extensive cerebral abnormalities are only minimal symptomatic. Seizures and mental retardation may also occur. The natural history is often favorable, without drug-resistant seizures and normal intelligence in most of the cases.

Nevus sebaceous (NS) is a hamartomatous disorder of the skin and adjacent tissues characterized by epidermal, follicular, sebaceous, and apocrine gland abnormalities. It occurs in approximately 1 in 1,000 live births. A hyperactivation of Ras pathways has been recently assumed to be the cause of this phenotype. NS lesions may be isolated or coupled with extracutaneous manifestations, mostly of the central nervous, ocular, and skeletal systems, or kidneys; in this case, the term “NS syndrome” is used. Cutaneous distribution of NS usually follows the linear patterns known as “lines of Blaschko,” with lines that do not follow the segmental trajectory of the peripheral sensory nerves but instead reflect the streams or trends of growth of embryonic tissues. Histological characteristics of the lesions appear to be actually more decisive than the clinical evaluation to distinguish between the types of epidermal nevus: the typical NS has both papillated epidermal hyperplasia and a predominance of subjacent abnormal follicular–sebaceous glands.Seizures, mental retardation, and/or cognitive developmental delay are the most common neurologic abnormalities associated with NS and usually are present within the first months of life; eye and skeletal involvement may be present as well.The definitive treatment of NS is full-thickness excision. However, the necessity and timing of excision to prevent possible future malignancy are not clear; lasers and photodynamic therapy are alternatives currently being explored for the treatment of NS, with varying degrees of success.

Background Human milk (HM) is the best feeding for premature infants. When own mother’s milk (OMM) is insufficient or unavailable, pasteurized donor human milk (PDHM) and preterm formula (PF) are the alternative nutritional sources, but the benefits of donor milk over formula are not defined. This study aimed to assess whether, in the absence of OMM, the PF could guarantee a feeding tolerance not inferior to that seen with the use of PDHM during the first two weeks of life of very preterm infants. Methods Infants with gestational age (GA) of ≤32 weeks who started enteral feeding within the first 7 days of life were randomized to receive PDHM or PF as a supplement to the OMM insufficient or unavailable. The primary outcome was the day of life when full enteral feeding (FEF) of 150 mL/Kg/d was achieved. Results Seventy infants were randomized, 35 in the PF group (GA 30.2 ± 1.7 weeks; BW 1342 ± 275 g), 35 in the PDHM group (GA 30 ± 1.9 weeks; BW 1365 ± 332 g). The time to achieve FEF was the same for infants fed with PF and for infants fed with PDHM (12.3 ± 7.0 days vs 12.8 ± 6.5). Conclusions This trial shows that PF could be a valid alternative for the early feeding of very preterm infants when OMM is insufficient or unavailable. Trial registration UMIN000013922. Date of formal registration: December 31, 2014.

Background Parenteral nutrition-associated cholestasis (PNAC) is a serious complication in preterm infants receiving prolonged parenteral nutrition. Soybean lipid emulsion (SLE) seems to have a role in its pathogenesis, whereas fish oil-based emulsion (FOLE) seems to be able to reverse cholestasis. This study aimed to evaluate the effectiveness of a FOLE in reversing PNAC. Methods The effectiveness in reversing PNAC was evaluated in prospective cohort study of very preterm infants when compared to historical controls: twenty-six infants (27.0 ± 2.6 weeks GA; 724 ± 204 g) who developed cholestasis while receiving SLE were shifted to receive FOLE and were compared with 30 infants (27.3 ± 2.5 weeks GA¸ 838 ± 277 g) who continued to receive SLE at diagnosis of cholestasis. Results Time to reversal of cholestasis was the same in the two study groups (45 ± 21 vs 43 ± 32 days). Conclusions FOLE does not seem to be superior to SLE in reversing cholestasis. Considering that definitive data on the actual efficacy of FOLE to reverse PNAC are lacking, larger randomized trials are required, mainly to asses if FOLE may have a role in PNAC prevention rather than PNAC treatment.

Background: The mannose-binding lectin (MBL2) and nitric oxide synthase 3 (NOS3) genes are associated with the immune response against inflammatory processes, have been reported as possibly related with premature birth. Until now, most of the researches regarding the genetic influence of prematurity have revealed limited results because only investigating the child or the mothers’ genotypes, thus not exploring the possible effects of interactions between these genotypes or the interactions with environmental factors related to the duration of pregnancy. Objective: We performed a replica study investigating the influence of single nucleotide polymorphisms (SNPs) in MBL2 and NOS3 genes on premature birth, also considering socioeconomic, demographic, and gestational factors. Materials and methods: We conducted a case–control study with 189 mother–infant dyads, with 104 spontaneous preterm births and 85 term births from Recife, Brazil. We used peripheral blood samples and umbilical cord samples to extract DNA. Functional SNPs at exon 1 and promoter region of MBL2 and NOS3 RS1799983 SNP were genotyped using direct sequencing and fluorescent allelic specific TaqManVR assays respectively. Data were analyzed using the Statistical Package for the Social Sciences (SPSSVR ) program with bivariate association and logistic multivariate regression tests. Results: We observed a prevalence of MBL2 wild-type genotype in the mother–infant dyad of the preterm group and polymorphic genotype in the mother–infant dyad of term birth. The haplotype LYA predominated in our sample, being more frequent in the preterm group, while the haplotype LYB, correlated with lower levels of MBL protein, was more frequent in the term birth group. About NOS3 RS1799983 SNP, the G/G genotype was more frequent throughout the sample. The heterozygous genotype predominated among women from the preterm group, showed a borderline difference between the groups. When MBL2 genotypes of the mother and son were analyzed together, codon 54 of MBL2 remained associated with prematurity. When the variables with p value lower than .20 in the bivariate analysis were analyzed by logistic regression, the low weight of the pregnant woman in relation to the gestational age, the occurrence of preterm premature rupture of membranes, urinary tract infection during birth and maternal history of other premature births were risk factors to prematurity. On the other hand, the presence of B allele at codon 54 of maternal MBL2 was a protective factor for the occurrence of spontaneous premature birth. In contrast, a borderline association was established between the maternal genetic variation within NOS3 gene and the outcome studied. Conclusions: Our study, limited by the small number of patients enrolled, indicates that MBL2 and NOS3 functional SNPs are associated with the occurrence of spontaneous prematurity and the regulation of the maternal inflammatory response. Despite these results are in agreement with previously reports, our findings do not replicate the ones reported in a large genome-wide association study performed on quite high number of subjects. Thus, we can conclude that MBL2 and NOS3 functional SNPs are plausible candidate risk factors just in few preterm birth cases, and consequently they cannot be included in the general diagnostic practice.

Background The association between bullying victimization and depression, suicide ideation and suicide attempts has been studied mainly in cross-sectional studies. This study aims to test the bidirectional effect and the chronicity versus sporadic effect of physical, verbal, and relational bullying victimization on suicidal ideation/attempts and depression. Methods Longitudinal assessments with an interval of 3- and 12-months were performed within a sample of 2,933 adolescents (56.1% females; mean age 14.78, SD = .89) from 10 European countries, participating in the Saving and Empowering Young Lives in Europe (SEYLE) school-based multicenter control sample. Multilevel Structural Equation Models were used, controlling for sociodemographic variables. Victimization was considered chronic when a student was victimized in the first two time points and sporadic when it was reported only at one point but not in another. Results Bidirectional prospective association between all types of victimization and depression were found. Among participants, who reported victimization once (but not twice), physical victimization, but not verbal and relational, was associated with later suicidal ideation and attempts. Chronic victimization of any type increased likelihood for later depression compared with sporadic and no-victimization. Chronic relational victimization increased the likelihood of later suicidal ideation, and chronic physical victimization increased the likelihood for suicidal attempts. Conclusions The results support the bidirectional effect of victimization and depression and indicate that there are complex longitudinal associations between victimization and suicidal ideation/attempts. Physical victimization may especially carry effect on suicidal risk over time. Interventions should focus on victimization as a cause of distress but also aim to prevent vulnerable adolescents from becoming targets of victimization.

Objective To compare short-term application of nasal high-frequency oscillatory ventilation (nHFOV) with nasal continuous positive airway pressure (nCPAP). Working hypothesis nHFOV improves CO2 removal with respect to nCPAP in preterm infants needing noninvasive respiratory support and persistent oxygen supply after the first 72 h of life. Study design Multicenter non-blinded prospective randomized crossover study. Patient selection Thirty premature infants from eight tertiary neonatal intensive care units, of mean ± SD 26.4 ± 1.8 weeks of gestational age and 921 ± 177 g of birth weight. Methodology Infants were randomly allocated in a 1:1 ratio to receive a starting treatment mode of either nCPAP or nHFOV delivered by the ventilator CNO (Medin, Germany), using short binasal prongs of appropriate size. A crossover design with four 1-h treatment periods was used, such that each infant received both treatments twice. The primary outcome was the mean transcutaneous partial pressure of CO2 (TcCO2 ) value during the 2-h cumulative period of nHFOV compared with the 2-h cumulative period of nCPAP. Results Significantly lower TcCO2 values were observed during nHFOV compared with nCPAP: 47.5 ± 7.6 versus 49.9 ± 7.2 mmHg, respectively, P = 0.0007. A different TcCO2 behavior was found according to the random sequence: in patients starting on nCPAP, TcCO2 significantly decreased from 50.0 ± 8.0 to 46.6 ± 7.5 mmHg during nHFOV (P = 0.001). In patients starting on nHFOV, TcCO2 slightly increased from 48.5 ± 7.8 to 49.9 ± 6.7 mmHg during nCPAP (P = 0.13). Conclusions nHFOV delivered through nasal prongs is more effective than nCPAP in improving the elimination of CO2 .

Background Human milk is fundamental for its nutritional properties and to protect newborns, but it is not sterile and can sometime transmit bacteria. Few anecdotal cases suggest that breast milk could be a possible source of group B Streptococcus (GBS) late onset disease, although the pathogenesis is not entirely understood. Case presentation We report 3 cases of GBS late onset disease in full-term newborns. Fresh breast milk cultures yielded GBS, but mothers of neonates had no signs of mastitis and remained persistently GBS negative at rectovaginal site. Conclusions Breast milk containing group B Streptococcus can be a risk factor for late onset disease. The persistent negative maternal GBS status supports the assumption that newborns, colonised in the throat, could be the initial source of GBS, while the mammary gland could act as a GBS replication site. It is unclear whether a low bacterial load may represent only contamination rather than true milk infection.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.

Background: New findings on adipose tissue physiology and obesity-associated inflammation status suggest that modification of the adipokine level can be relevant for the long-term prevention of obesity-associated chronic disease. Objectives: The scope of the present study was to investigate the effectiveness of physical exercise in reducing the systemic inflammation related to obesity in children. Methods: We conducted a systematic review with meta-analysis of controlled randomized trials, identified through electronic database search, which investigated the effect of physical exercise, without concomitant dietary intervention, on adiponectin, leptin, and/or other inflammatory markers in children up to age 18 years with a body mass index greater than the 95th percentile for age and sex. Results: Seven trials were included in the meta-analysis, with a total of 250 participants. Compared with the control group without any lifestyle modification, the physical exercise resulted in a reduction in leptin [standardized mean difference (SMD) −1.13; 95% confidence interval (95%CI): −1.89 to −0.37; I2 = 79.9%] and interleukin-6 (SMD −0.84; 95%CI: −1.45 to −0.23, I2 = 0.9%) and an increase in adiponectin plasma concentration (SMD 0.69; 95%CI: 0.02–1.35; I2 = 74.3%). Conclusions: These results indicate that physical exercise improved the inflammatory state in children with obesity. It is unclear whether this effect can reduce the risk of cardiovascular and metabolic disease in adulthood. Clinical trials with a uniform intervention protocol and outcome measurements are required to put our knowledge on adipose tissue biology into a clinical perspective.

Alongside recent advances in treatment strategies for juvenile idiopathic arthritis (JIA), paediatric rheumatologists have taken increasing interest in the use of imaging. Magnetic resonance imaging (MRI) and musculoskeletal ultrasound, by providing more detailed information on disease activity than clinical examination and conventional radiography (CR), have become helpful diagnostic and managerial tools. The growing skeleton, however, with changing appearances over time, is still challenging in the establishment of valid scoring systems for pathological changes. Defining child- and age-specific reference standards is therefore a highly prioritized issue. The aim of this article is to raise awareness among radiologists of the substantial role that imaging can play to optimize the management of JIA patients and to describe the state-of-the-art validation process of imaging as an outcome measure. A closer collaboration between radiologists and pediatric rheumatologists is crucial to define a scheduled workflow for imaging in JIA.

Hip involvement is common and estimated to occur in approximately 35-63% of children with juvenile idiopathic arthritis (JIA). It is more prevalent in the aggressive systemic subtypes, with irreversible changes occurring as early as within 5 years of diagnosis. Whilst clinical parameters and joint examination can be useful for assessing disease severity, subclinical disease is known to exist and delayed treatment may herald a lifetime of disability and pain. Early recognition of JIA changes is therefore crucial in determining treatment options. Validated scoring systems in the radiologic assessment of the hip for clinical drug trials may inform treatment outcomes, although robust tools for analysis are still lacking. This review article details the modalities utilised for imaging the hip in children with JIA with particular efforts focused upon reliability and validity in their assessment of joint disease. We conclude with a short literature review on the potential future techniques being developed for hip joint imaging in JIA.

Background Approximately 20–50% of children with juvenile idiopathic arthritis (JIA) have hip involvement within 6 years of diagnosis. Scoring systems for hip-related radiographic changes are lacking. Objective To examine precision of potential radiographic variables and to suggest a scoring system. Materials and methods We reviewed a set of 75 pelvic radiographs from 75 children with JIA hip involvement across two European centres. We assessed findings of (1) destructive change and (2) growth abnormality, according to a pre-defined scoring system. All radiographs were scored independently by two sets of radiologists. One set scored the radiographs a second time. We used kappa statistics to rate inter- and intra-observer variability. Results Assessment of erosions of the femoral head, femoral neck and the acetabulum showed moderate to good agreement for the same reader (kappa of 0.5–0.8). The inter-reader agreement was, however, low (kappa of 0.1–0.3). There was moderate to high agreement for the assessment of femoral head flattening (kappa of 0.6–0.7 for the same reader, 0.3–0.7 between readers). Joint space narrowing showed moderate to high agreement both within and between observers (kappa of 0.4–0.8). Femoral neck length and width measurements, the centrum–collum–diaphysis angle, and trochanteric–femoral head lengths were relatively precise, with 95% limits of agreement within 10–15% of the observer average. Conclusion Several radiographic variables of destructive and growth abnormalities in children with hip JIA have reasonable reproducibility. We suggest that future studies on clinical validity focus on assessing only reproducible radiographic variables.

Triptorelin, a gonadotropin releasing hormone analogue, can be administered to postpubertal female individuals with cancer who receive chemotherapy to obtain menstrual suppression and decrease the risk of hemorrhage caused by thrombocytopenia. Our goal was to assess whether triptorelin also has a protective role against the gonadotoxicity of chemotherapy.This retrospective observational study includes all postmenarchal female patients who presented to our Unit from 2000 to 2015 and received chemotherapy for cancer. They were administered depot triptorelin. We evaluated long-term ovarian function in order to detect clinical signs of ovarian damage, miscarriages, and pregnancies. Laboratory follow-up consisted in dosing serum follicle stimulating hormone, luteinizing hormone, prolactin, estradiol, and progesterone. Ultrasound of the ovaries was performed as well.Of 36 evaluable patients, 9 received hematopoietic stem cell transplantation (HSCT). The remaining 27 patients maintained normal ovarian function at clinical, laboratory, and ultrasound assessment. Five of them achieved spontaneous physiological pregnancy. Four of the 9 patients who underwent HSCT developed premature ovarian failure.Our study suggests that gonadotropin releasing hormone-a administered during chemotherapy can prevent premature ovarian failure in patients treated without HSCT and that it is not enough to preserve the ovarian function during HSCT. Hence, a prospective randomized trial with a larger population would be recommended.

Background Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4–2% of cases). In order to gain a deeper understanding of this disease at such age, patient and tumor features, as well as treatment modality and outcome need to be reported. Case presentation We describe two cases with congenital RMS treated at Bambino Gesù Children’s Hospital between 2000 and 2016. They represent only 2.24% of all RMS patients diagnosed during that period in our Institution; this data is in agreement with the incidence reported in the literature. They reflect the two different clinical forms in which the disease may manifest itself. One patient, with the alveolar subtype (positive for specific PAX3-FOXO1 fusion transcript) and disseminated disease, had a fatal outcome with central nervous system (CNS) progression despite conventional and high dose chemotherapy. The other child, with the localized embryonal subtype, was treated successfully with conservative surgery and conventional chemotherapy, including prolonged maintenance therapy. He is disease free at 7 years of follow-up. Conclusions RMS can also be diagnosed during the neonatal period. Given the young age, disease management is often challenging, and especially for the alveolar subtype, the outcome is dismal despite intensified multimodality therapy. In fact, it characteristically manifests with multiple subcutaneous nodules and progression most commonly occurs in the CNS (Rodriguez-Galindo et al., Cancer 92(6):1613–20, 2001). In this context, CNS prophylaxis could play a role in preventing leptomeningeal dissemination, and molecular studies can allow a deeper tumor characterization, treatment stratification and identification of new potential therapeutic targets.

Background Toll-like receptors (TLRs) are potentially useful indicators of several pediatric disease states. Here, we explore the mechanisms by which inflammation is regulated by interactions between microbiota and the host. Little data are available regarding the expression of TLRs in postnatal healthy infants. TLR 2 and TLR4 are extracellular TLRs that act as innate immune receptors by recognizing a wide range of endogenous ligands and microorganisms. Methods The aim of this study was to use real-time polymerase chain reaction to investigate the expression of the messenger RNAs (mRNAs) of TLR2 and TLR4 in blood samples obtained from healthy full-term infants and toddlers. Results We analyzed the mRNA expression levels of TLRs in 88 healthy term children separated according to age. The median expression level of TLR2 was 1.49 ± 1.10 arbitrary units (AU) (n = 25) in infants younger than 3 months, 0.67 ± 0.72 AU (n = 25) in infants aged between 3 and 12 months, and 0.03 ± 0.02 AU (n= 38) in infants older than 12 months. The median expression level of TLR4 was 1.25 ± 0.79 AU (n = 25) in infants younger than 3 months, 0.75 ± 0.54 AU (n = 25) in infants aged 3 to 12 months, and 0.44 ± 0.28 AU (n = 38) in infants older than 12 months. There was difference in the mRNA expression level of TLR2 and TLR4 between infants aged 0 to 3 and 3 to 12 months and those aged more than 1 year (p Conclusion We found that the expression levels of TLR2 and TLR4 were associated with age. In particular, we observed that their expression increased during the suckling period and then clearly decreased once the infants reached 1 year of age (p

Background: This study aimed to show the impairment of autonomic cardiac conduction causing bradycardia and/or electrocardiographic alterations in children affected by spinal muscular atrophy type 1 and 2 (SMA 1 and 2). Methods: We included 25 spinal muscular atrophy patients, admitted from November 2016 to May 2017. All patients underwent an electrocardiographic examination and we studied PR and QRS intervals, P-waves and QRS amplitudes, and heart rate in spinal muscular atrophy patients compared to a control group. Results: In all patients, we found longer PRi and QRSi ( P < .05), lower P-wave and QRS complex amplitudes ( P < .01), and a decreased heart rate ( P < .01) with respect to controls. When we divided our patients into SMA1 and SMA2 subgroups, we found that statistical differences were maintained for P-wave and QRS complex amplitudes and heart rate, but not for PRi and QRSi with respect to controls. Conclusion: We suggest the hypothesis of SMN expression on cardiac tissue condition and/or autonomic cardiac conduction.

BACKGROUND: Pilonidal disease is a troublesome acquired condition for whom various surgical treatments have been proposed with relatively high recurrence and complication rates. Since EPSiT technique has been described in 2013, it became an alternative treatment in adult practice. Our study reports the results of a multicentre series of pediatric patients who underwent EPSiT procedure over a 21-month period. METHODS: Between July 2015 and March 2017, all consecutive patients undergoing EPSiT in four different pediatric surgical units have been enrolled. Details regarding demographic data, detailed surgical procedure, outcome and complications have been recorded. RESULTS: A total of 43 patients underwent EPSiT procedure. Mean age was 15 years. There was a slight female preponderance. Mean weight and height at surgery were 67 kg and 168 cm, respectively. In 14% of cases a previous ineffective procedure was performed. Mean length of procedure was 34 min and median hospital stay was 24 h (12-72 h). Median length of follow-up was 4 months (range 3-18 months). Complications leading to reoperation were reported in 9% of cases with an overall resolution rate of 88%. DISCUSSION: EPSiT proved to be feasible and safe even in the pediatric population. The effectiveness and safety of the procedure suggest that this technique can represent a valid alternative for the treatment of pilonidal disease in children.

Objective: The aim of this study was to evaluate the association between umbilical arterial pH and fetal vertebral artery Doppler velocimetry waveforms measured at the beginning of the second stage of labor in physiological term pregnancies. Methods: This was a prospective cohort study of 250 pregnancies. The resistance index, pulsatility index, and peak systolic velocity were measured. The relationship between the fetal Doppler and the umbilical arterial pH was evaluated. A simple linear regression and a general linear model were used to explore possible correlations of Doppler parameters with fetal and neonatal outcome adjusted for confundents. Results: Umbilical arterial pH values were directly associated with vertebral artery pulsatility index. Fetuses with lower pulsatility index values were at increased risk of a subsequent diagnosis of pathological fetal heart rate tracing patterns (presence of decelerations or reduced variability according to FIGO criteria during the second stage of labor). We estimated a decrease in pulsatility index of 10% in those fetuses destined to show a pathological fetal heart rate tracing. Conclusion: Vertebral artery Doppler waveforms correlates with umbilical pH in normal pregnancies and is also a function of fetal heart rate patterns. If this proportional association would be demonstrated also for abnormal pH values, vertebral artery pulsatility index might be useful to evaluate fetal wellbeing in those cases of suspected hypoxia/academia.

Introduction Innate immunity molecules are known to play a pivotal role in the homeostasis of the oral mucosa, permitting the presence of commensal microflora and, at the same time, providing a first line of defense against pathogens attempting to invade the oral cavity. Tonsils represent the local immune tissue in oral cavity, being able to provide a non-specific response to pathogens; however, in the presence of microbes or foreign materials present in the mouth tonsils could became infected and develop chronic inflammation, thus leading to hypertrophy. The etiology of the disease is multifactorial depending upon environmental and host factors, the latter including molecules of mucosal innate immunity. Methods Ninety-five children with adeno-tonsillar hypertrophy subjected to adeno-tonsillectomy were recruited at the pediatric otorhinolaryngology service of the Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste (Italy). The specimen discarded from the surgery were used for genomic DNA extraction and genotyping, for mRNA extraction and gene expression analysis, finally the samples were cut and used to prepare slides to perform immunohistochemistry. Results Functional polymorphisms within DEFB1 gene, encoding the human beta defensin-1 (hBD-1), were analyzed finding association between DEFB1 rare haplotypes and susceptibility to adeno-tonsillar hypertrophy. DEFB1 mRNA expression was detected in the tonsils and the hBD-1 protein was localized at the epithelia of tonsils mainly in the proximity of the basal lamina. Conclusion Our findings lead us to hypothesize an involvement of hBD-1 mediated innate immunity in the modulation of the susceptibility towards adeno-tonsillar hypertrophy development.

Background: Needle breakage during the administration of dental analgesia is an extremely rare event. Case report: A case of needle breakage during the administration of an inferior alveolar nerve block occurred in a child with KBG syndrome. During the injection, a sudden movement of the child caused the breakage of the needle. The next day, the retrieval of the needle was performed surgically under general analgesia. Follow-up: Three months after the surgery the healing was good. Two years later the child underwent a dental extraction with the aid of nitrous oxide/oxygen analgesia/anxiolysis. Conclusion: Needle fracture is a possible event during the administration of dental analgesia in children.

Dandy-Walker malformation is a rare condition due to imperforation of the Blake’s pouch during intrauterine brain development, usually leading to early severe hydrocephalus. The association with holocord syringomyelia is rare, and from the Gardner’s first report in 1957, only 23 cases have been described, mostly from autopsy series and pre-MRI period. Besides a worsening of clinical picture, its occurrence generates some concern about the best surgical treatment that varies widely among the literature reports. An 11-year-old girl with Dandy-Walker malformation presented with a holocord syrinx due to the herniation of the lower pole of the posterior fossa cyst through the foramen magnum. After an unsuccessful shunt revision, she underwent a cystoperitoneal shunt with regression of the syrinx and of neurological symptoms at the 12-month follow-up. Previous literature about pathogenesis, treatment, and follow-up is discussed and summarized.