Current opinion in pediatrics最新文献

Purpose of review: The purpose of this review is to highlight recent findings in the diagnosis, biology, risk-stratification, and treatment of soft tissue sarcomas (STS) in children.

Recent findings: In rhabdomyosarcoma (RMS), FOXO1 fusion status has been confirmed as an important prognostic factor. Among fusion-negative RMS, TP53 and MYOD1 mutations and detectable circulating tumor DNA at diagnosis are associated with inferior event-free survival in intermediate-risk disease. Delayed primary excision is associated with a reduced risk of local failure whereas radiotherapy dose escalation in large tumors has not improved local control. Maintenance therapy with vinorelbine and oral cyclophosphamide following induction chemotherapy in the RMS2005 trial led to improved survival. In non-rhabdomyosarcoma soft tissue sarcomas, the addition of pazopanib, a multitargeted receptor tyrosine kinase inhibitor, to upfront therapy did not improve survival. Atezolizumab is approved for alveolar soft part sarcoma, larotrectinib for NTRK fusion-positive STS, and afamitresgene autoleucel remains under evaluation in children with synovial sarcoma. Encouraging early results have been reported with tazemetostat and immune checkpoint inhibitors in epithelioid sarcoma and trastuzumab in desmoplastic small round cell tumor, respectively.

Summary: Pediatric STS are rare and biologically heterogeneous. Genomic advances have refined risk stratification and uncovered therapeutic targets; further progress relies on international collaboration and trials.

Purpose of review: This review provides the most up to date information on diagnosing and treating atlantoaxial rotatory fixation (AARF). The condition can be confused with torticollis, but primary care physicians should have a high index of suspicion for AARF as timely noninvasive treatment facilitates excellent outcomes.

Recent findings: A variety of etiologies have been described to cause AARF, but is most commonly seen following a viral infection of the upper respiratory system. When diagnosed early, nonoperative measures including rest, cervical collars, and antiinflammatories/muscle relaxants can allow for full resolution, avoidance of surgery and excellent outcomes.

Summary: Atlantoaxial rotatory fixation is a treatable condition without need for surgery in most cases. Dynamic computed tomography scan is the imaging modality of choice to diagnose and confirm resolution of the condition, as diagnosis requires documented pathologic subluxation between the first and second cervical vertebrae.

Purpose of review: To provide an overview of neurodivergence and its unique challenges across the lifespan, including best practices for pediatricians who care for these individuals and facilitate their transition to adulthood.

Recent findings: Neurodivergent individuals, those with a natural variation in human neurological functioning, represent a growing population, accounting for nearly one-fifth of the U.S. population. They experience worse health outcomes in adulthood compared with their neurotypical peers due to lack of clinician training in addressing their unique needs, loss of essential therapy services previously provided by the public education system, lapses in benefits and insurance coverage, ambiguities in decision-making, and incomplete long-term planning. When neurodivergent affirming care is provided, health outcomes and patient satisfaction improve significantly.

Summary: Neurodivergent youth encounter specific challenges throughout the lifespan, which are compounded during the transition from pediatric to adult systems. In addition to varied healthcare access and a range of decision-making abilities, there are also important considerations for community integration and long-term planning.

Purpose of review: Understanding the normal anatomy and development of the pediatric knee is crucial due to its structural complexity and significant changes over time. This review covers current knowledge of various anatomical structures of the knee and provides insights into differentiating normal development from their variations.

Recent findings: Recent literature highlights advancements in imaging techniques for assessing bone age and skeletal maturity. Knee magnetic resonance imaging (MRI) has emerged as a promising alternative to traditional X-rays, based on key features visible on standard MRI that demonstrate a predictable ossification pattern. However, further validation may be required. Studies have explored the morphologic development of the knee, including the different components, physis and vascularity. Several studies have aimed to elucidate the physiology of normal variants of development, though the etiology of many conditions remains unknown.

Summary: The findings emphasize the importance of accurate interpretation and detailed knowledge of developmental changes in the pediatric knee. Improved imaging techniques and understanding of normal variants are essential for distinguishing between benign developmental changes and pathological conditions.

Purpose of review: Osteochondrosis encompasses a heterogenous group of pathologies affecting endochondral ossification in the growing child and adolescent. The cause of each disease is multifactorial, though many are often related to overuse injury, and may be epiphyseal, physeal, or apophyseal. Identification and treatment of this group of disorders is complex, thus this review aims to briefly describe common pathologies, their management, and highlight novel developments within the field.

Recent findings: Machine learning as well as advanced diagnostic tools for more precise evaluation and prognostication of osteochondroses have been studied including perfusion MRI in Legg-Calvé-Perthes disease. Novel treatments include leukocyte-rich platelet-rich plasma (LR-PRP), which offer promising improvements in pain and function in Osgood-Schlatter disease. Surgical technique studies have begun to examine optimal operative management of Freiberg's disease.

Summary: The osteochondroses are an often-self-limiting spectrum of pathologies affecting the physis in children and adolescents that may be managed with conservative treatment, though some require surgical intervention. Advances in imaging, prognostication tools, and treatment modalities support earlier and accurate diagnoses, as well as better informed treatment decisions.

Purpose of review: Availability and uptake of somatic and/or germline genetic testing is increasing for children with or at risk for cancer. Diagnosis of a cancer predisposition syndrome (CPS) necessitates long-term oncology care or surveillance. Genetic counseling is imperative to optimize genetic testing for providers and patients/families and to identify and manage those with a CPS.

Recent findings: In pediatric oncology, genetic counseling aids in patient identification, test selection and/or methodologies, and clinical and psychosocial management of new CPS diagnoses. As a member of a multidisciplinary care team, a genetic counselor is well positioned to provide these services. There is an ongoing shift in pediatric oncology toward universal paired somatic/germline testing at diagnosis, increasing the demand for genetic counseling. Current challenges include limits of testing technology, equitable access to testing and subsequent care, and evolution of CPS diagnoses.

Summary: Demand for genetic counseling will only grow as molecular testing is increasingly utilized in pediatric oncology and expands into nontraditional care settings. Genetic counselors will continue to play key roles in identifying patients with CPS, coordinating management in collaboration with a medical team, facilitating patient and family comprehension of a diagnosis, and promoting psychosocial adjustment for those impacted by a CPS.

Purpose of review: Noonan syndrome and related disorders (RASopathies) affect ~1 in 2000 individuals and are associated with a wide range of phenotypic manifestations. It is highly likely that pediatricians and other pediatric subspecialists will encounter multiple patients with these diagnoses in their clinical practice. It is important that pediatric providers recognize common diagnostic features and are informed regarding recent advances in diagnosis and emerging treatment options for patients with these conditions.

Recent findings: Major themes of research articles published about RASopathies in the past 18 months include the utilization of pathway targeted drugs such as trametinib for treatment-refractory cardiac and lymphatic manifestations, emerging genotype-phenotype correlations, and detailed characterization of neurologic manifestations.

Summary: The potential for pathway targeted therapy, with increasing reported use of trametinib for severe cardiac and lymphatic manifestations of RASopathies, exemplifies the importance of recognizing RASopathy diagnoses and of clearly defining natural history and treatment endpoints. Further refinement of genotype-phenotype correlations and the phenotypic spectrum, particularly the delineation of neurologic manifestations clinically and radiographically, are likely to be areas of significant knowledge growth in upcoming years.

Purpose of review: With the recent advances in neonatal care, resuscitation of periviable neonates and challenges to conducting clinical research and funding, efficient clinical trials with relevant outcomes are pivotal to direct the future of neonatology.

Recent findings: Parents of neonates in the Neonatal ICU are supportive and hold positive views of clinical research. Timing and who approaches the parents plays a great role in parents' perception of a clinical trial. Parents prefer a bigger role for the clinical team at least when introducing the idea of research. The consent process has evolved, and newer technology should be incorporated to make it simple and more clear. Consenting mothers in labor remains a point of contention as timing of consent and ability to retain information matters. Different types of consent can be used based on timing of intervention of a research trial, to allow for efficient and diverse enrollment.

Summary: The challenges inherent to conducting research in neonatology have not received the attention it deserves, especially when it comes to interventional trials, raising questions about equity of research in this patient cohort. Parents view research positively and are supportive provided that the timing is appropriate and language is clear.

Purpose of review: To summarize existing evidence about the long-term effects of bronchopulmonary dysplasia (BPD) and postnatal corticosteroid (PNC) treatment to enable evidence-based risk-stratification and individualized decision-making in very preterm (<32 weeks' gestation) infants.

Recent findings: BPD remains a top risk factor for neurodevelopmental impairments (NDI) or death and BPD rates are rising in Western nations. Conversely, clinical trials and meta-regression data suggest medium (2-4 mg/kg cumulative dose) or high dose (4-8 mg/kg) dexamethasone use after a week of age reduces BPD/death and may improve or at worst have no effect on survival without NDI, as compared to placebo. Data from a validated meta-regression of all dexamethasone RCTs suggest. dexamethasone effects are modified by the baseline risk of BPD: in infants with >50-70% risk of BPD, dexamethasone improved survival free of cerebral palsy, but had an opposite effect when BPD risk was <30%. A recent network meta-analysis of all PNC RCTs identified: moderately early-initiated (days 8-14), medium dose dexamethasone provided the largest reduction in BPD/death; high dose courses between 8 and 27 days were also highly effective; low dose dexamethasone, hydrocortisone, and inhaled or intratracheal steroids are ineffective or exhibit low potency in reducing BPD/death.

Summary: Current evidence supports the use of medium dose systemic dexamethasone - preferably between days 8 and 14 in ventilator-dependent infants at >50-70% risk of developing BPD. While more NDI follow-up data are needed, this regimen is proven to reduce BPD risk and may also reduce NDI risk, considering PNC effects on BPD reduction appear stronger than any direct NDI toxicity. Practical suggestions are provided to enable transition from the current prevalent use of late initiated (>3-4 weeks of age), low dose dexamethasone to moderately early, medium dose dexamethasone to reduce the ongoing high rates of BPD in very preterm infants.

Purpose of review: Recent literature describes the deployment of different artificial intelligence (AI) technologies to potentially support infection prevention and control (IP&C) in both the community and healthcare environment. However, most studies focus on adults. This review explores the data and potential for AI to enhance IP&C for pediatric populations as well as recognizing important limitations.

Recent findings: In community settings, AI can educate families about infections and risk, recognize potential clusters and outbreaks of infectious pathogens, and prescreen individually infected patients prior to entering a healthcare facility. For admitted patients, AI has been used to identify patients at risk for healthcare-associated infections (HAIs) such as central line associated blood stream infections, and may assist infection preventionists in abstracting chart data for HAI surveillance. Limitations include potential biases in training data and the lack of prospective studies validating the use of AI for IP&C purposes, especially in heterogeneous pediatric populations.

Summary: AI can be a valuable tool in recognizing and controlling infections in both the community and healthcare settings. However, more studies in pediatric populations are needed, including prospective studies that validate tools created and trained on retrospective cohorts.