Pediatric solid organ transplant recipients are a unique and growing patient population who are at risk for metabolic bone disease both before and after transplantation. The odds of sustaining a fracture in adulthood are significantly higher if an individual has sustained at least one childhood fracture, therefore, close monitoring before and after transplant is essential. Emerging data in patients with chronic kidney disease mineral and bone disorder (CKD-MBD) and hepatic osteodystrophy highlights the role of fibroblast growth factor 23 in the pathogenesis of metabolic bone disease in these conditions. While dual X-ray absorptiometry (DXA) is the most widely used imaging modality for assessment of bone mass in children, quantitative computer tomography (QCT) is an emerging modality, especially for patients with glucocorticoid-induced osteoporosis. Solid organ transplantation improves organ function and quality of life; however, bone mineral density can decline following transplantation, particularly during the first three to six months. Immunosuppressive medications, including glucocorticoids, are a major contributing factor. Following transplant, treatment should be tailored to achieve mineral homeostasis, correct nutritional deficiencies, and improve physical conditioning. In summary, early identification and treatment of metabolic bone disease can improve the bone health status of pediatric transplant recipients as they enter adulthood. http://links.lww.com/MOP/A71.

Neurological problems are common in infants admitted to the neonatal intensive care unit (NICU). Various neuroimaging modalities are available for neonatal brain imaging and are selected based on presenting problem, timing and patient stability. Neuroimaging findings, taken together with clinical factors and serial neurological examination can be used to predict future neurodevelopmental outcomes. In this narrative review, we discuss neonatal neuroimaging modalities, and how these can be optimally utilized to assess infants in the NICU. We will review common patterns of brain injury and neurodevelopmental outcomes in hypoxic-ischemic encephalopathy, perinatal arterial ischemic stroke and preterm brain injury. Timely and accurate neuroprognostication can identify infants at risk for neurodevelopmental impairment and allow for early intervention and targeted therapies to improve outcomes.

The purpose of this paper is to review recent updates in the acute management of childhood arterial ischemic stroke, including reperfusion therapies and neuroprotective measures. With the emergence of pediatric stroke centers in recent years, processes facilitating rapid diagnosis and treatment have resulted in improved implementation of early targeted neuroprotective measures as well as the increased use of reperfusion therapies in childhood arterial ischemic stroke. Retrospective data has demonstrated that alteplase is safe in carefully selected children with arterial ischemic stroke in the first 4.5 h from symptom onset, though data regarding its efficacy in children are still lacking. There is also increasing data that suggests that thrombectomy in children with large vessel occlusion improves functional outcomes. Recent adult studies, including the use of Tenecteplase as an alteplase alternative and expansion of late thrombectomy to include patients with large ischemic cores, also are reviewed along with limitations to application of the adult data to pediatric care. There have been significant advances in the hyperacute care of children with ischemic stroke and early diagnosis and targeted management are of the upmost importance in improving long-term outcomes.

This review will focus on the current knowledge of the diagnosis and management of overgrowth syndromes with specific focus on mosaic conditions and treatment strategies. With the implementation of massively parallel sequencing, the genetic etiology many classically described overgrowth syndromes has been identified. More recently, the role of mosaic genetic changes has been well described in numerous syndromes. Furthermore, the role of imprinting and methylation, especially of the 11p15 region, has been shown to be instrumental for growth. Perhaps most importantly, many overgrowth syndromes carry an increased risk of neoplasm formation especially in the first 10 years of life and possibly beyond. The systematic approach to the child with overgrowth will aide in timely diagnosis and efficient alignment them with appropriate screening strategies. In some cases, precision medical interventions are available to target the perturbed growth signaling pathways. The systematic approach to the child with overgrowth aids in the standardization of the diagnostic pathway for these young patients, thereby expediting the diagnostic timeline, enabling rigorous monitoring, and delivering tailored therapeutic interventions.

Atopic dermatitis is a chronic, systemic disease with primary cutaneous clinical manifestations and is commonly attributed to an exaggerated Th2 inflammatory response. Recent research regarding risk factors, prevention, clinical features, and management of atopic dermatitis will be reviewed. In the last decade, advances have been made in identifying the factors that either confer increased risk for or protection from atopic dermatitis and associated atopy. Progress has also been made in the clinical management of this disease. Promising biomarkers and therapeutically informative characteristics of this disease have been identified in young children with and without the presence of eczema, but much has yet to be elucidated. Progress has also been made in clarifying the advantages and disadvantages of respective medical managements, including but not limited to topical corticosteroids, topical calcineurin inhibitors, phototherapy, systemic immunosuppressants, and targeted immunotherapy. Given that medical management may show variable efficacy in a child, an optimized skin care regimen is of utmost importance as well. Atopic dermatitis is a challenging, chronic systemic disease that incurs significant morbidity in affected children. Although management options have been somewhat disappointing in years past, promising results have been observed in recent advances in targeted immunotherapy.

The purpose is to describe the latest research on epidemiology, causes, and morbidities of stroke in neonates and children. The global incidence of childhood stroke is approximately 2 per 100 000 person-years, which is significantly lower compared to neonates (20-40 per 100 000 live births) and adults (80-90 per 100 000 person-years). Placental abnormalities are a risk factor for perinatal stroke, although cause is usually multifactorial. In children, nonatherosclerotic arteriopathies and arteriovenous malformations are major causes of ischemic and hemorrhagic strokes, respectively. The perinatal period confers a high risk of stroke and can lead to long-term disability, including motor delay, cognitive or speech impairment, and epilepsy. Recent studies suggest that at least 50% of survivors of perinatal stroke have abnormal neurodevelopmental scores in long-term follow up. Childhood stroke is associated with significant morbidity, including epilepsy, motor impairments, and behavioral disability. Recent studies have also identified an association between pediatric stroke and behavioral disorders, such as attention deficit hyperactivity disorder and autism. Perinatal and childhood strokes are important causes of neurological morbidity. Given the low incidence of childhood stroke, prospective research studies on epidemiology, causes, and outcomes remain limited, highlighting the need for continued multisite collaborations.

Hematopoietic stem cell-based therapies, including allogeneic hematopoietic cell transplantation (HCT) and autologous gene therapy (GT), have been used as curative therapy for many inborn errors of immunity (IEI). As the number of genetically defined IEI and the use of HCT and GT increase, valuable data on outcomes and approaches for specific disorders are available. We review recent progress in HCT and GT for IEI in this article. Novel approaches to prevention of allogeneic complications and experience in adolescents and young adults have expanded the use of HCT. Universal newborn screening for severe combined immunodeficiency (SCID) has led to improved outcome after HCT. Analysis of outcomes of HCT and GT for SCID, Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD) reveal risk factors for survival, the impact of specific conditioning regimens, and vector- or disease-specific impacts on efficacy and safety. Preclinical studies of GT and gene editing show potential for translation to the clinic. Emerging data on outcome after HCT for specific IEI support early evaluation and treatment, before development of co-morbidities. Data in large cooperative retrospective databases continues to yield valuable insights clinicians can use in patient selection and choice of therapy.

Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants. SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards. This breakthrough has revolutionized our approach to SCID, enabling not only presymptomatic identification and prompt treatments (including hematopoietic stem cell transplantation), but also enhancing our comprehension of the global epidemiology of SCID. NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments. Following the successful implementation of SCID-NBS programs, a call for the early identification of additional IEIs is the next step, encompassing a broader spectrum of IEIs, facilitating early diagnoses, and preventing morbidity and mortality.

This review examines the potential of rapid palatal expansion (RPE) as a treatment for pediatric obstructive sleep apnea (OSA). The focus is on recent findings related to its efficacy, safety, patient selection, timing, appliance options, cost considerations, and long-term outcomes. Recent studies indicate that RPE can lead to significant improvements in pediatric OSA, with a 70% reduction in the Apnea Hypopnea Index (AHI) and increased oxygen saturation levels. It has been particularly effective in children with small or absent tonsils and has been found to reduce adenoid and tonsil size. Long-term follow-up studies suggest the need for ongoing monitoring, as some patients may experience relapse over time. RPE shows promise as an additional treatment for pediatric obstructive sleep apnea. It offers improvements in respiratory function and reduced symptoms in certain patients. However, long-term efficacy and safety require further investigation. Comparative studies and patient-reported outcomes are necessary to optimize treatment approaches. Collaboration between orthodontists, sleep specialists, and ear-nose-throat (ENT) specialists may be essential for optimal outcomes in pediatric OSA patients treated with RPE.

As the incidence of allergic conditions has increased in recent decades, the effects of climate change have been implicated. There is also increased knowledge on the effects of other physical influences, such as scratching and Staphylococcus aureus. The skin barrier is the first line of defense to the external environment, so understanding the ways that these factors influence skin barrier dysfunction is important. Although the impact on environmental exposures has been well studied in asthma and other allergic disorders, there is now more literature on the effects of temperature, air pollution, and detergents on the skin barrier. Factors that cause skin barrier dysfunction include extreme temperatures, air pollution (including greenhouse gases and particulate matter), wildfire smoke, pollen, scratching, S. aureus, and detergents. Understanding the ways that external insults affect the skin barrier is important to further understand the mechanisms in order to inform the medical community on treatment and prevention measures for atopic conditions.