Current opinion in pediatrics最新文献

Purpose of review: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.

Recent findings: Across all areas of PMD research, genetic advancements are notable both for mitochondrial and nuclear DNA.

Summary: Global understanding of PMDs is driving deeper and broader research. Neurologic manifestations primarily include neuromuscular disease, epilepsy, stroke-like episodes and neurodegeneration, and advances in all areas have benefitted from global reporting of genetic studies.

Purpose of review: New social risk screening standards and quality metrics reward or penalize healthcare delivery organizations for social risk screening. After summarizing the recent literature on social risk screening in pediatric healthcare settings we consider how this evidence - and persistent evidence gaps - might inform future standards development.

Recent findings: Reported social risk screening rates, measures, and modality differ greatly across recent work. Although many caregivers report acceptability of screening, experiences and expectations around effective follow-up vary. Likewise, although most frontline clinical providers find screening acceptable, they report significant implementation challenges related to time constraints, insufficient workforce, and availability of social services. Qualitative findings suggest opportunities to improve screening implementation. Literature examining the impacts of screening continues to focus on immediate posited impacts of assistance programs; few studies assess health outcomes.

Summary: The existing literature does not clearly indicate whether, when, how, or for whom social risk screening standards focused on screening quantity will contribute to child health or health equity. Informed by studies on patient experience, quality measures focused on screening quantity (e.g. how many individuals are screened) should be paired with efforts to improve screening quality (i.e. patient/caregiver screening experience) as well as social and health outcomes.

Purpose of review: Due to the infrequent nature of rare pediatric cancers, rigorously studied treatment algorithms are usually nonexistent, and experience with a given tumor may be limited at a single institution. Development of treatment plans for these populations often requires extensive literature review and outreach to experts at other institutions. National or international virtual tumor boards provide a streamlined, collaborative approach to discussing diagnosis and management of these patients through dissemination of collective experience and knowledge. This review highlights current virtual tumor boards for rare pediatric cancers and their benefit as a resource for patient care.

Recent findings: Over the last several years, national virtual tumor boards sponsored by government and academic institutions and cancer foundations have expanded access of pediatric oncologists to rare tumor expertise and guidance. Recommendations from these tumor boards often have an impact on medical decision making, and some serve as a resource for enduring educational reference materials.

Summary: National virtual tumor boards are a valuable resource to clinicians caring for patients with rare pediatric tumors. These conferences provide real-time management advice from peers and subject matter experts and provide essential educational content not easily accessible in other formats.

Purpose of review: This review aims to summarize how scientific advances in complement biology have not only improved the diagnosis and management of aHUS but also continue to offer insights into the pathophysiology of complement-mediated disease that may be leveraged for future therapeutic developments.

Recent findings: Updated information on the clinical and epidemiological features, pathophysiology, diagnosis, management, and potential for future therapeutic advancements in the treatment of aHUS are reviewed.

Summary: aHUS is a rare but potentially life-threatening disease that requires prompt diagnosis and treatment as well as long-term management via a multidisciplinary team providing coordination of primary and specialty care as well as outreach and education for children and families affected by this life-long disease.

Purpose of review: To provide an update on advancements in pediatric headache.

Recent findings: The symptomatology associated with primary headache disorders has been compared with ICHD-3 criteria. Primary stabbing headache pain lasts longer than 3 seconds in over half of patients. Persistent posttraumatic headache or new daily persistent headache have significant overlap in pain character and nonpain-related symptoms with migraine. In a large cohort with continuous headache at first follow-up, 47% reported resolution of their continuous headache and 19.4% had a 50% or greater reduction in frequency with improvements in fluid intake, sleep, not skipping meals, and exercise. There was no correlation with improved lifestyle habits and clinical outcomes despite the overall improvement. Studies noted significant improvement in headache scores with onabotulinum toxin A and incobotulinum toxin A injections with limited side effects. Intranasal sumatriptan without concurrent intravenous therapies found a clinically meaningful decrease in pain score prior to discharge with shorter lengths of stay and lower emergency department costs compared with the those who received intravenous therapies.

Summary: Newer studies have suggested changes to symptomatology and duration of pediatric headache syndromes. Onabotulinum toxin A and incobotulinum toxin A injections, and emergency department intranasal sumatriptan are well tolerated therapies in pediatric headache.

Purpose of review: This review aims to provide an overview of the current understanding of eosinophilic gastrointestinal disorders (EGIDs) and the role of the epithelium in influencing disease pathogenesis to inform and devise future therapeutic strategies.

Recent findings: Changes in epithelial cell structure, functions, and integrity are observed in EGIDs. In eosinophilic esophagitis (EoE), the esophageal epithelium has been shown to play key roles in perpetuating the inflammatory response in EoE through the expression of pro-inflammatory cytokines and immunological cell-surface proteins. Similar mechanisms appear to exist in the other EGIDs, including eosinophilic gastritis (EoG), eosinophilic enteritis (EoN), and eosinophilic colitis (EoC). Because of the increasing rarity of each non-EoE EGID, research focusing on how the epithelium is modulating disease in each lower gastrointestinal compartment is still in its rudimentary stages.

Summary: While there has been significant progress in understanding the role of the epithelium in EoE, further research is needed to obtain a better understanding of the mechanisms mediating epithelial-immune crosstalk in non-EoE EGIDs. Using EoE-epithelial cell research to inform future EGID investigations could lead to the development of new therapeutic interventions, such as targeted therapies to restore epithelial barrier function and reduce inflammation, to improve rare disease-patient quality of life.

Purpose of review: Critically ill children are at risk of neurologic dysfunction and acquiring primary and secondary brain injury. Close monitoring of cerebral function is crucial to prevent, detect, and treat these complications.

Recent findings: A variety of neuromonitoring modalities are currently used in pediatric and neonatal ICUs. These include noninvasive modalities, such as electroencephalography, transcranial Doppler, and near-infrared spectroscopy, as well as invasive methods including intracranial pressure monitoring, brain tissue oxygen measurement, and cerebral microdialysis. Each modality offers unique insights into neurologic function, cerebral circulation, or metabolism to support individualized neurologic care based on a patient's own physiology. Utilization of these modalities in ICUs results in reduced neurologic injury and mortality and improved neurodevelopmental outcomes.

Summary: Monitoring of neurologic function can significantly improve care of critically ill children. Additional research is needed to establish normative values in pediatric patients and to standardize the use of these modalities.

Purpose of review: Provide an overview of recent findings and recommendations for the presentation, diagnosis, and management of pediatric dermatologic emergencies.

Recent findings: Updated information on optimal diagnosis and treatments for pediatric dermatologic emergencies because of infection, reactive infectious mucocutaneous eruption, and serious cutaneous adverse reactions are covered.

Summary: Pediatric dermatologic emergencies require prompt diagnosis and management. This review covers new agents and techniques for management and diagnosis.

Purpose of review: To provide a comprehensive resource for pediatric surgeons and pediatricians caring for patients with Mullerian and vaginal anomalies, with a focus on recent changes in practice.

Recent findings: Herein, we provide a foundation for understanding the anatomy, presentation, and work up of Mullerian and vaginal anomalies. We review how to approach management of these anomalies when in isolation or when associated with anorectal malformations. We discuss the evolution of the management of neovaginal discussion with a current emphasis on patient-centered and directed care.

Summary: Review of current understanding of and approach to Mullerian and vaginal anomalies in children.