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. Using standardised data formats, coding systems, and terminologies is crucial in achieving interoperability and overcoming the barriers of different systems, formats, and locations. Paediatricians and other child health stakeholders can effectively address data structure, coding, and terminology inconsistencies by promoting interoperability and improving data quality and accuracy of children and youth, according to guidelines of the World Health Organisation. Thus, ensure comprehensive health assessments and screenings for children, including timely follow-up and communication of results. And implement effective vaccination schedules and strategies, ensuring timely administration of vaccines and prompt response to any concerns or adverse events. Developmental milestones can be continuously monitored. This can improve care coordination, enhance decision-making, and optimise health outcomes for children. In conclusion, using interoperable electronic child health data holds great promise in advancing international child healthcare systems and enhancing the child's care and well-being. By promoting standardised data exchange, interoperability enables timely health assessments, accurate vaccination schedules, continuous monitoring of developmental milestones, coordination of care, and collaboration among child healthcare professionals and the individual or their caregiver. Embracing interoperability is essential for creating a person-centric and data-driven healthcare ecosystem where the potential of digitalisation and innovation can be fully realized.

Health, integrity, and doping in sports for children and young adults. A resolution of the European Academy of Paediatrics.

The European Academy of Paediatrics (EAP) is dedicated to promoting healthy lifestyles for children from birth into young adulthood. Physical exercise and leisure are essential to the development of healthy bodies, strong minds, and social skills. All children, without regard to their physical or mental capacities, should be provided with the time, the leadership, the facilities, and the equipment needed to exercise through sports while enjoying playing, even competing, in an environment appropriate to their capacities and aspirations. During exercise and sports, children should be assured of a safe and an appropriate environment that protects and promotes their human rights. Top sports that engage the best competitive athletes in an age group, in a region, in a country, or in the world should provide role models and even dreams for all children. These top sports, however, are also most usually surrounded by large political, economic, and/or business interests where only the best can compete while at times exacting a too high physical and/or psychological cost for those who have survived the cut, made the grade. Alongside this more and more children are being raised in environments with fewer open spaces as well as inside a media and digital culture making significantly less room for the enjoyment of physical exercise and leisure. Children's diets have also been changed dramatically by a significant intake of calorierich foods, which often have little nutritional value and which even a child's high metabolism rates not able to burn off efficiently. Conclusion With this Resolution, the EAP is calling for a renewed look at the role of sports and leisure in the lives of children and, by implication, at the way we structure, finance, and promote sports in Europe. The EAP is also asking that this Resolution be adopted by all organizers of sports involving children and young adults in Europe (and beyond), be that on the playground, in schools, in clubs, or in professional sporting organizations. The EAP would like that every child, throughout his or her childhood years and into young adulthood, can fully participate in sports in a safe environment where winning is playing and playing is winning.

Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin deficiency in Central Eastern Europe.

The Leonardo da Vinci project "Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin Deficiency in Central Eastern Europe" belongs to a sub-programme of the European Commission's Lifelong Learning Programme. It started in November 2011 and is conducted in cooperation with eight European partners. The project's main goal is to support development of a Central-Eastern European Network (CEE) for alpha-1-antitrypsin Deficiency (AATD) early diagnostics and treatment. Alpha-1-antitrypsin (AAT) is one of the major serine protease inhibitors in the human circulation, and is an acute phase protein produced predominantly by hepatocytes. Severe inherited AATD deficiency occurs in about 1 in 2.500 individuals; most commonly in those of European ancestry. AATD considerably increases the risk of liver disorder in infants, children and adults, while respiratory complications are observed mainly in adults. The average concentration of AAT in plasma in healthy individuals is 1.3 mg/ml. The concentration of AAT during acute phase processes rises 3- to 4-fold above normal. Alpha1-Antitrypsin deficiency (AATD) is a disorder inherited in an autosomal co-dominant fashion. The mutant Z AAT protein differs from the normal M variant by a single amino acid substitution (Glu 342 Lys). Severe ZZ AAT deficiency was first recognized as a hereditary condition predisposing to disease on the basis of 90% lower plasma levels of the protein arising not from the lack of AAT synthesis, but from a defect in its secretion. Most Caucasians of North European descent are homozygous for the normal M variant of AAT, but some carry the Z allele, which is associated with an increased risk of early-onset emphysema and liver disease. The great advantage and main focus of the project is to create a long-lasting European network of cooperation between medical institutions involved in AATD medical care. The network is a response to the needs of CEE countries and at the same time it will help them to participate in the broader frame of the European network of medical centres specializing in AATD.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has identified new pathways and potential interventions that could benefit even those with mutations in type I collagen genes. We identified mutations in FKBP10, which encodes the 65 kDa prolyl cis-trans isomerase, FKBP65, in 38 members of 21 families with OI. These include 10 families from the Samoan Islands who share a founder mutation. Of the mutations, three are missense; the remainder either introduce premature termination codons or create frameshifts both of which result in mRNA instability. In four families missense mutations result in loss of most of the protein. The clinical effects of these mutations are short stature, a high incidence of joint contractures at birth and progressive scoliosis and fractures, but there is remarkable variability in phenotype even within families. The loss of the activity of FKBP65 has several effects: type I procollagen secretion is slightly delayed, the stabilization of the intact trimer is incomplete and there is diminished hydroxylation of the telopeptide lysyl residues involved in intermolecular cross-link formation in bone. The phenotype overlaps with that seen with mutations in PLOD2 (Bruck syndrome II), which encodes LH2, the enzyme that hydroxylates the telopeptide lysyl residues. These findings define a set of genes, FKBP10, PLOD2 and SERPINH1, that act during procollagen maturation to contribute to molecular stability and post-translational modification of type I procollagen, without which bone mass and quality are abnormal and fractures and contractures result.

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management are presented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based on the consensus of experienced clinicians from Canada, Europe, and the United States. Whenever possible, evidence-based conclusions are made, but as with other rare diseases, the data on SDS are often anecdotal. The authors welcome comments from readers.