Early diagnosis of increased intracranial pressure (ICP) is crucial for prompt diagnosis and treatment of intracranial hypertension in critically ill pediatric patients, preventing secondary brain damage and mortality. Although the placement of an external ventricular drain coupled to an external fluid-filled transducer remains the gold standard for continuous ICP monitoring, other non-invasive approaches are constantly being improved and can provide reliable estimates. The use of point-of-care ultrasound (POCUS) for the assessment of ICP has recently become widespread in pediatric emergency and critical care settings, representing a valuable extension of the physical examination. The aim of this manuscript is to review and discuss the basic principles of ultra-sound measurement of the optic nerve sheath diameter (ONSD) and summarize current evidence on its diagnostic value in pediatric patients with ICP. There is increasing evidence that POCUS measurement of the ONSD correlates with ICP, thus appearing as a useful extension of the physical examination in pediatrics, especially in emergency medicine and critical care settings for the initial non-invasive assessment of patients with suspected raised ICP. Its role could be of value even to assess the response to therapy and in the follow-up of patients with diagnosed intracranial hypertension if invasive ICP monitoring is not available. Further studies on more homogeneous and extensive study populations should be performed to establish ONSD reference ranges in the different pediatric ages and to define cut-off values in predicting elevated ICP compared to invasive ICP measurement.
Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful de novo variants in the fetus could constitute an important tool for the medical team during pregnancy, counselling, and childbirth. A better insight into the mechanisms regulating diaphragm development and genetic causes leading to CDH appeared essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. Integrated sequencing, development, and bioinformatics strategies could direct future functional studies on CDH; could be applied to cohorts and consortia for CDH and other birth defects; and could pave the way for potential therapies by providing molecular targets for drug discovery.
The concentration of the majority of hemostatic proteins differs considerably in early life, especially in neonates compared to adulthood. Knowledge of the concept of developmental hemostasis is an essential prerequisite for the proper interpretation of conventional coagulation tests (CCT) and is critical to ensure the optimal diagnosis and treatment of hemorrhagic and thrombotic diseases in neonatal age. Viscoelastic tests (VETs) provide a point-of-care, real-time, global, and dynamic assessment of the mechanical properties of the coagulation system with the examination of both cellular and plasma protein contributions to the initiation, formation, and lysis of clots. In this work, we provide a narrative review of the basic principles of VETs and summarize current evidence regarding the two most studied point-of-care VETs, thromboelastography (TEG®) and rotational thromboelastometry (ROTEM®), in the field of neonatal care. A literature analysis shows that viscoelastic hemostatic monitoring appears to be a useful additive technique to CCT, allowing targeted therapy to be delivered quickly. These tools may allow researchers to determine the neonatal coagulation profile and detect neonatal patients at risk for postoperative bleeding, coagulation abnormalities in neonatal sepsis, and other bleeding events in a timely manner, guiding transfusion therapies using the goal-oriented transfusion algorithm. However, diagnosis and treatment algorithms incorporating VETs for neonatal patients in a variety of clinical situations should be developed and applied to improve clinical outcomes. Further studies should be performed to make routinary diagnostic and therapeutic application possible for the neonatal population.
Technological innovation can contribute to a reorganization of healthcare, particularly by supporting the shift in the focus of care from the hospital to the territory, through innovative citizen-centered models, and facilitating access to services in the territory. Health and social care delivery modalities, enabled by telemedicine, are crucial in this regard. The objective of his Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, is to define a standard for its use at the territorial level in various declinations in the pediatric field; this paper also identifies priority areas for its application and the types of services that most require intervention and investment. The changes that are underway in digital transformation in all sectors are unstoppable, and for the digital transformation to take place in a productive sense, the contribution of not only all health professionals, but also of patients, is necessary. From this perspective, authors from different backgrounds were involved in the drafting of this Consensus and, in the future, other figures, primarily patients, are expected to be involved. In fact, this belongs to the vision of connected care, in which the citizen/patient actively participates in the treatment path so that they are assisted in a personalized, predictive and preventive way. The future scenario must be able to provide for the involvement of patients from the initial stages of planning any treatment path, even in the pediatric age, and increasing, where possible, the proximity of the health service to the families.
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