Pediatric Reports

When fabricating custom-made mouthguards for children, tooth replacement is an important factor for dentists to consider. In addition, orofacial myofunctional disorders and deleterious oral habits—such as incompetent lip seal and tongue thrusting—are relatively common among children and are associated with an increased risk of oral and dental trauma. Therefore, individual oral functional characteristics should be taken into account when designing custom-made mouthguards for pediatric patients. This report presents a case involving the design, fabrication, and appliance management of a custom-made mouthguard for a Japanese boy exhibiting incompetent lip seal and tongue thrusting. In this case, the anterior palate region of the mouthguard was left uncut, and multiple holes were created using a carbide bur to permit tongue–palate contact and provide sensory feedback related to tongue elevation. Over a 20-month follow-up period, no oral or dental trauma was observed. During appliance use, the patient demonstrated improved tongue elevation and an increased frequency of lip seal at rest. This case illustrates a custom mouthguard design that incorporates individual oral functional characteristics in a pediatric patient.

The management of supracondylar fractures in children remains a challenging area of orthopedic practice. Medial comminution is a recognized complication that can result in unstable fracture patterns, which can pose challenges in diagnosis and management. However, when anticipated surgical treatment with an additional medial K-wire is administered, stable fixation is typically ensured. However, an additional radial comminution poses several challenges for reduction, alignment assessment, and pin configuration for stable fixation, as presented in this case. This case report presents a fracture pattern of a Gartland type 3 fracture with medial and lateral comminution that has not been sufficiently described previously and illustrates an effective pin configuration that has yet to be theoretically described.

In recent years, the development of new diagnostic technologies, such as tandem mass spectrometry (MS/MS) and next-generation sequencing (NGS), has caused a veritable revolution in the diagnosis of genetic diseases, reducing time, cost, and invasiveness associated with prior diagnostic techniques. While MS/MS laid the foundation for the development of numerous, usually institutionally based, neonatal screening programs, NGS has gained traction in newborn screening (NBS), primarily through pilot projects and private funding across different countries. As a result, the traditional Wilson and Jungner criteria have been supplemented by additional criteria, including considerations of equity and access, in response to emerging technologies. This review aims to provide an up-to-date overview of the global landscape of metabolic screening panels, highlight the major ongoing genomic screening projects, and outline the current models for integrating these two screening systems. Substantial differences exist across countries in the numbers and types of diseases included in national NBS programmes. In this context, Italy represents a prominent case, as its neonatal screening framework has seen significant expansion and development in recent years, reaching a particularly comprehensive metabolic screening panel. Nonetheless, a number of initiatives to incorporate genomic technologies into the NBS pathway are currently underway, primarily involving high-income countries. Nonetheless, unlike metabolomic-based NBS programs, no country has a government-mandated NGS program as first-tier testing for newborns. New evidence is emerging from ongoing models of integration of multi-omics approaches into NBS, including the use of AI and machine learning. Identifying the most appropriate system for this integration to reduce the false-positive and false-negative rates associated with both screening types, ensure more equitable access to screening, and facilitate faster access to treatment may represent a useful and foresightful way to conceptualize NBS in the future. This transitional phase should promote rigorous improvements before full-scale adoption.