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关键词： Endo-ERN   Rare disease   Patient perspective   Endocrinology  

摘要： Purpose Rare diseases affect <1 in 2000 people. Despite their rarity, they collectively affect similar to 30 million people across Europe. The aim of this article is to present the view of our European endocrine societies on the care of patients with rare endocrine conditions. Methods We evaluated the current situation of patients with rare endocrine disease and present the joint views of the European Society for Endocrinology (ESE) and the European Society for Pediatric Endocrinology (ESPE) on how the endocrine disciplines can support and contribute to a better health of patients with rare endocrine conditions in Europe. Results Rare diseases pose many challenges, including early diagnosis and innovative treatment options. Rare endocrine diseases can be found among inherited disorders, cancers, and conditions associated with metabolic disorders such as diabetes, calcium and bone metabolism, lipid metabolism, hypogonadism, and adrenal, pituitary, and thyroid dysfunction. According to the European Registries for Rare Endocrine conditions, there are over 440 distinct rare diseases that affect the endocrine system. Rare endocrine diseases are often chronic and life-threatening. Conclusions ESE and ESPE support a strategic plan to address unmet needs in the area of rare endocrine conditions. The EU should continue to evolve and expand its plans for funding European Reference Networks so that they can expand their activities.

关键词： Acquired brain injury   children and young people   participation  

摘要： This study aimed to explore the levels of participation in a UK sample of children and young people (CYP) with an acquired brain injury (ABI) at home, school and in the community through a cross-sectional study. The Child and Family Follow-Up Survey was distributed to parents/carers of 134 CYP with ABI (CYP-ABI) who received neuro-rehabilitation from 2014 to 2016. Access and recruitment were problematic resulting in a low response rate (4%). Widespread restrictions in participation were reported by four of the five respondents with community-structured events/activities and educational activities being the most restricted. Factors impacting on participation were cognitive-based and movement skills, family stress and lack of support/encouragement in the community. Study results provide information pertaining to the feasibility of undertaking research with this population while also highlighting the restrictions to participation experienced by CYP-ABI more than two years after injury.

关键词： COVID-19   SARS-Cov-2   Kawasaki   multisystem inflammatory syndrome   AEPC   congenital heart disease  

摘要： The COVID-19 pandemic has had a huge influence in almost all areas of life, affecting societies, economics, and health care systems worldwide. The paediatric cardiology community is no exception. As the challenging battle with COVID-19 continues, professionals from the Association for the European Paediatric and Congenital Cardiology receive many questions regarding COVID-19 in a Paediatric and Congenital Cardiology setting. The aim of this paper is to present the AEPC position on frequently asked questions based on the most recent scientific data, as well as to frame a discussion on how to take care of our patients during this unprecedented crisis. As the times are changing quickly and information regarding COVID-19 is very dynamic, continuous collection of evidence will help guide constructive decision-making.

关键词： paediatric   resuscitation   invasive procedures   family   parents  

摘要： Background The evolvement of family-centred care has been an ongoing process since the Platt Report 1959. Family-centred care has become the modern working model in paediatrics and obstetrics. Parental participation is central to family-centred care. Whether it is applied consistently remains to be concluded. Aim The aim of the study was to describe the family experiences of being present during paediatric resuscitation and invasive procedures. Method The design used in this study is an integrative review by Whittemore & Knafl. Databases PubMed and CINAHL were searched for primary research concerning the parental experiences of participating in paediatric resuscitation and invasive procedures. Eighteen studies were included in the study. A quality assessment tool was applied. Findings A pro-parental presence was the results of 17 of the 18 included studies. Six common themes were found: 'Being there', 'Calming child', 'Calming parent', 'Having the right', 'Do it again' and 'Seeing is believing'. Conclusion Including family in resuscitation and invasive procedures requires openness as a working model and demands organisational changes and the updating of guidelines. The inseparability of parent-child is attachment theory practised, an innate quality of being a child as well as a parent. Recommendations are to have a facilitator present during resuscitation and invasive procedures to alleviate stress on everyone's part, enabling family participation.

关键词： Low-risk   Febrile neutropenia   Child   Implementation   Evaluation  

摘要： Background Home-based management of low-risk febrile neutropenia (FN) is safe, improves quality of life and reduces healthcare expenditure. A formal low-risk paediatric program has not been implemented in Australia. We aimed to describe the implementation process and evaluate the clinical impact. Method This prospective study incorporated three phases: implementation, intervention and evaluation. A low-risk FN implementation toolkit was developed, including a care-pathway, patient information, home-based assessment and educational resources. The program had executive-level endorsement, a multidisciplinary committee and a nurse specialist. Children with cancer and low-risk FN were eligible to be transferred home with a nurse visiting daily after an overnight period of observation for intravenous antibiotics. Low-risk patients were identified using a validated decision rule, and suitability for home-based care was determined using disease, chemotherapy and patient-level criteria. Plan-Do-Study-Act methodology was used to evaluate clinical impact and safety. Results Over 18 months, 292 children with FN were screened: 132 (45%) were low-risk and 63 (22%) were transferred to home-based care. Compared with pre-implementation there was a significant reduction in in-hospital median LOS (4.0 to 1.5 days,p < 0.001) and 291 in-hospital bed days were saved. Eight (13%) patients needed readmission and there were no adverse outcomes. A key barrier was timely screening of all patients and program improvements, including utilising the electronic medical record for patient identification, are planned. Conclusion This program significantly reduces in-hospital LOS for children with low-risk FN. Ongoing evaluation will inform sustainability, identify areas for improvement and support national scale-up of the program.

关键词： Caregiver stress   family   feeding disorder   parents  

摘要： Paediatric feeding disorders (PFDs) are common. Earlier studies have shown an association between PFD and caregiver stress, but these studies have been hampered by insufficient power. This study reports stress for caregivers of children diagnosed with PFD. These caregivers were then compared to community norms of the Parental Stress Index-Short Form. Caregivers also completed the Mealtime Behaviour Questionnaire, Child Behaviour Checklist and Child Development Inventory. Linear regression and hierarchical regression analyses assessed the relationship among the variables. Caregivers of 840 children with PFD responded. Negative child behaviours and lower child developmental function predicted higher levels of total parenting stress, parental distress, parent-child dysfunctional interaction and caregiver perceptions of their child as difficult. Higher rates of child internalizing and externalizing problems and child mealtime aggression were associated with parent perceptions of their child as difficult and contributed to total parental stress. Parents of older children reported higher levels of stress, whereas parents of younger children were more likely to be defensive responders. Overall, parents of children with PFD have more caregiver-related stress. These caregivers may benefit from consultations with mental health professionals to provide the most appropriate care to affected families.

关键词： cell block   FNAC   IHC   paediatric abdominal neoplasms  

摘要： Background Paediatric abdominal neoplasms are fairly common. Fine needle aspiration cytology (FNAC) is used for the initial evaluation of paediatric abdominal neoplasms. However, sometimes FNA interpretation can be difficult on limited material, owing to tumour heterogeneity and overlapping features. Therefore, we attempted to obtain additional information using cell block (CB) preparation from residual aspiration material along with immunohistochemistry (IHC) to enhance the diagnostic accuracy. Aim To evaluate the correlation between CB preparation and FNAC in diagnosis of paediatric abdominal tumours with the help of an extended panel of IHC markers and to highlight some of the diagnostic difficulties. Materials and methods A total of 113 cases of paediatric abdominal masses were studied. In addition to routine FNA smears, CBs were prepared from the residual material for IHC analysis as considered appropriate. Results This study included a total of 113 children with abdominal masses. Histopathology following surgical resection was available in 53 cases. Histology was taken as gold standard to measure the diagnostic accuracy with reference to sensitivity (Sn), specificity (Sp), positive predictive value and negative predictive value. The Sn of FNA alone was 87.5% and Sp was 97.78%. The Sn and Sp increased with use of CB alone and were 100% and 97.78% respectively. The highest Sn and Sp were observed when CB was combined with IHC where both the values were 100%. Conclusion CB with IHC is a useful adjunct to the routine FNA smears that further contributes to enhance the accuracy of the cytopathological diagnosis and is useful for choosing pre-operative chemotherapeutic regimen.

关键词： Somatosensory evoked potential   Prognosis   Pediatrics   Interobserver variation   Intra-rater reliability   Inter-rater reliability  

摘要： Objective: To measure inter- and intra-rater agreement in the interpretation of cortical somatosensory evoked potential (SSEP) components following paediatric cardiac arrest (CA) in multi-professional neurophysiology teams. Methods: Thirteen professionals blinded to patient outcome interpreted 96 SSEPs in paediatric patients 24-/48-/72-hours following CA. Of these, 34 were duplicates used to assess intra-rater agreement. Consistent interpretations (absent/present/indeterminate) between scientists (who record/identify SSEP components) and neurophysiologists (who provide prognostic SSEP interpretation) were expressed as percentages. Rates of agreement were calculated using Fleiss' kappa coefficient (K). Results: Unanimous agreement between professionals was present in 40% (95%CI: 28-54%) of the interpreted SSEPs, with a K value of 0.62 (95%CI: 0.55-0.70) based on average agreement. Agreement was similar between neurophysiologists (K = 0.67;95%CI: 0.57-0.77) and scientists (K = 0.62;95%CI: 0.54-0.70) but lower in patients < 2 years old (K = 0.23;95%CI: 0.14-0.33) and in those with poor outcome (K = 0.21;95%CI: 0.07-0.35). No SSEP was unanimously interpreted as absent and 92% (95%CI: 89-95%) of duplicate SSEPs were interpreted consistently. Conclusion: Despite substantial agreement when interpreting prognostic SSEPs, this was significantly lower in children with poor outcome and of younger age. Significance: Clinicians using SSEPs in the intensive care unit should be aware of the inter-rater variability when interpreting SSEPs as absent. Crown Copyright (C) 2021 Published by Elsevier B.V. on behalf of International Federation of Clinical Neurophysiology. All rights reserved.

关键词： apnoea of prematurity   Chinese premature infants   pharmacokinetics-pharmacogenetics   postmarketing study  

摘要： Aims The aim of the study was to evaluate the suitability of the current caffeine dosing regimen for the Chinese population using modelling and simulation approach. Methods Pharmacokinetic samples were collected from 99 Chinese newborns with premature apnoea. The median (range) of gestational age and postmenstrual age were 28.3 (25.0-33.4) weeks and 31.1 (26.4-38.0) weeks, respectively. Newborns were receiving caffeine citrate at a loading dose of 20 mg/kg/d and a maintenance dose of 5-10 mg/kg/d. Caffeine concentrations and CYP1A2 polymorphisms were investigated. Population pharmacokinetic modelling of caffeine in Chinese preterm newborn on a population-wide scale was conducted using NONMEM. Results A 1-compartment model with first-order elimination was used to describe population pharmacokinetic. With current weight implemented using 0.75 allometric scaling, clearance (CL) was positively related to current weight and postmenstrual age, but a negative relationship was observed with serum creatinine concentration. Eight genotypes of CYP1A2 were tested and none of them had a significant impact on caffeine pharmacokinetic parameters. Interindividual variability of CL and volume of distribution was 7.70 and 65.9%. The median (range) of 95% confidence intervals of CL were 0.0128 (0.0128-0.0131) L/h/kg. Monte Carlo simulation demonstrated that 80% (loading dose) and 98% (maintenance dose) of premature infants treated with a labelled dosing regimen attained the concentration target range of 5-20 mg/L. Conclusion A population PK model of caffeine was developed in Chinese newborns. Body weight-implemented allometric scaling, postmenstrual age and serum creatinine concentration markedly affected caffeine clearance. The labelled dosing regimen is suitable for Chinese premature infants.

摘要： This commentary is on the scoping reviews by Williams et al. on pages 263–273 and Walhain et al. on pages 274–286 of this issue.