Teenage parents and their children-position paper of the European academy of paediatrics and the European confederation of primary care paediatricians.

Introduction: Teenage parenthood presents multifaceted implications, affecting adolescent parents, their children, and extended families. Despite a decrease in teenage pregnancy rates across Europe, the phenomenon continues to present significant challenges, impacting not only the adolescent parents but also their offspring and extended families.

Methods: A comprehensive literature review was conducted.

Magnetic Resonance Imaging of Central Nervous System Manifestations of Type 1 Neurofibromatosis: Pictorial Review and Retrospective Study of Their Frequency in a Cohort of Patients.

: type 1 neurofibromatosis (NF1) is the most common neurocutaneous disorder, and it is an inherited condition that causes a tumour predisposition. Central nervous system (CNS) manifestations are a significant cause of morbidity and mortality in NF1. We provide a pictorial review of neuroradiological features of NF1, with emphasis on magnetic resonance imaging (MRI), and we assess the frequency of those features on a cohort of NF1 patients.

Digital child health: opportunities and obstacles. A joint statement of European Academy of Paediatrics and European Confederation of Primary Care Paediatricians.

The advancement of technology and the increasing digitisation of healthcare systems have opened new opportunities to transform the delivery of child health services. The importance of interoperable electronic health data in enhancing healthcare systems and improving child health care is evident. Interoperability ensures seamless data exchange and communication among healthcare entities, providers, institutions, household and systems.

Use of inhaled corticosteroids in preschool children and variability among pediatricians: a real-world analysis before and during the SARS-CoV-2 pandemic.

Background: In Italy, inhaled corticosteroids (ICSs) are inappropriately prescribed to provide relief in URTI symptoms. Extreme variation in ICS prescribing has been described at regional and sub-regional level. During 2020, extraordinary containment measures were implemented in attempt to halt Coronavirus, such as social distancing, lockdown, and the use of mask.

Entrustable Professional Activities for the Training of Postgraduate Primary Care Pediatricians.

Problem: Competency-based training is a model of medical education program that uses an organized framework of competencies to develop entrustable professional activities (EPAs) for each specialty. Implementation of EPAs varies by medical specialty and country. Although national models for primary care pediatrics have been suggested in the past, standardized EPAs have not been established.

Xq21.1q21.31 Duplication in Two Male Siblings.

Despite the increased use of array comparative genomic hybridisation, duplications of Xq remain rarely reported in the literature. Xq21.1q21.

Increasing the Focus on Children's Complex and Integrated Care Needs: A Position Paper of the European Academy of Pediatrics.

There is wide variation in terminology used to refer to children living with complex needs, across clinical, research and policy settings. It is important to seek to reconcile this variation to support the effective development of programmes of care for this group of children and their families. The European Academy of Pediatrics (EAP) established a multidisciplinary Working Group on Complex Care and the initial work of this group examined how complex care is defined in the literature.

An estimation of the number of children requiring pediatric palliative care in Italy.

Background: Pediatric palliative care (PPC) addresses the physical and psychological needs of children suffering from life-limiting diseases. To define prevention and educational plans and to properly allocate resources, a precise estimation of the PPC burden is required.

Objectives: To estimate the current number of children requiring PPC in Italy, useful to assist policy-makers and healthcare bodies in the organization and allocation of PPC resources.

Association of maternal food insecurity before and during pregnancy with fetal structural anomalies: A multicenter case-control study protocol.

Background: Food insecurity, an issue also affecting developed countries, is associated with different negative outcomes. Particularly in pregnant women, a vulnerable population group, it has a double burden, as it affects both the woman and her child. Food insecurity has been associated with low birth weight and shorter gestational age, but there is less evidence on the association with fetal structural anomalies.

Verba volant, scripta manent: breastfeeding information and health messages provided to parents in the neonatal discharge summary in the Lazio Region, Italy.

Objective: We aimed to evaluate the contents of the neonatal discharge summary (NDS), an important communication tool that should contain evidence-based information.

Methods: A quali-quantitative study of NDSs delivered from 29 hospitals of Lazio (Italy) in 2014 and 2017 was conducted. We used content analysis to assess the written information and logistic regression to estimate the association between outcomes (compliance with the International Code, health messages, and information on neonatal screenings) and some hospital's characteristics.

Second-trimester prenatal diagnosis of Nager syndrome with a deletion including detected by chromosomal microarray.

Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype-phenotype correlation in pregnancies with structural abnormalities seen on ultrasound.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Background: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results.

Methods: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility.

Upregulation of the S1P receptor in metastatic breast cancer cells increases migration and invasion by induction of PGE and EP/EP activation.

Breast cancer is one of the most common and devastating malignancies among women worldwide. Recent evidence suggests that malignant progression is also driven by processes involving the sphingolipid molecule sphingosine 1-phosphate (S1P) and its binding to cognate receptor subtypes on the cell surface. To investigate the effect of this interaction on the metastatic phenotype, we used the breast cancer cell line MDA-MB-231 and the sublines 4175 and 1833 derived from lung and bone metastases in nude mice, respectively.

Music identification skills of children with specific language impairment.

Background: To date very few studies have investigated the musical skills of children with specific language impairment (SLI). There is growing evidence that SLI affects areas other than language, and it is therefore reasonable to hypothesize that children with this disorder may have difficulties in perceiving musical stimuli appropriately.

Aims: To compare melody and song identification skills in a group of children with SLI and in a control group of children with typical language development (TD); and to study possible correlations between music identification skills and language abilities in the SLI group.

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2.