Patients with PAX3/7-FOXO1 fusion-negative rhabdomyosarcomas (fnRMS) harbouring the rare L122R MYOD1 mutation have significantly poorer prognosis than other fnRMS. We undertook a detailed clinicopathological evaluation of a cohort of patients with MYOD1 mutated fnRMS in order to improve risk stratification and treatment options.

Iron and other biologically important metals are essential to mitochondrial function but are not routinely evaluated. Their equilibrium is critical to the optimal performance of cells with high metabolic activity such as neurons, cardiomyocytes, and skeletal myocytes. Teenagers are at a high risk of iron deficiency even without anemia. Metal ion imbalances can cause cognitive impairments, muscle weakness, and sudden cardiac death. We aim to assess the current prevalence of iron deficiency among collegiate athletes in the Upper Midwest.

Athletes are at high risk of iron deficiency even without anemia. In this systematic review and meta-analysis that included 17,519 athletes in 122 references from 23 countries, participating in 62 unique sports over a 41-year timeframe, approximately 53.9% of student-athletes were found to be hypoferritinemic (ferritin concentration below 50 mcg/L) with 23.0% percent showing absolute iron deficiency based on current definitions (ferritin concentration below 20 mcg/L). These findings strongly suggest that changes in clinical practice guidelines are warranted to enable routine screening for iron deficiency among adolescent and collegiate athletes.

The gift of postmortem tissue donation is critical to pediatric central nervous system (CNS) research. As a "Center of Excellence" for the Gift from a Child Program, our institution has a well-established postmortem tissue donation program. Our objective was to determine if differences exist between patients who participated in and those that declined research-based autopsy.

Childhood cancer survivors (CCS) frequently experience cognitive challenges, which impact their ability to participate in functional activities. This systematic review examines the effects of nonpharmacological cognitive interventions on functional outcomes (e.g., activities of daily living). We systematically searched eight databases (e.g., PubMed, EMBASE) from 2012 to 2023. Two team members independently screened articles and extracted article, intervention, sample characteristics, and outcome data. We assessed intervention reporting with the Template for Intervention Description and Replication. Fourteen studies met inclusion criteria, representing 12 unique trials. Four of the six trials evaluating Cogmed, a computerized working memory training program, demonstrated functional benefits; small to large effects were observed for academic achievement (Cohen's d = 0.28-0.87) and decreased inattention in daily life (d = -0.36 and -0.98). Other interventions included exergaming, math or reading interventions, occupational therapy, and neurofeedback. Less than half of studies reported on intervention personalization (n = 5), fidelity assessment (n = 4), or cost (n = 1). Study heterogeneity limited our ability to meta-analyze results for functional outcomes. Limited evidence and gaps in quality of intervention reporting are barriers to addressing the cognitive challenges of CCS. Standardizing functional outcome measurement, identifying effective interventions, and improving the quality of intervention reporting could accelerate the translation of intervention research to clinical practice.

Genetically targeted medications are emerging as important therapies for lymphatic malformations (LMs) unresponsive to sirolimus. We describe two patients with EML4::ALK-positive LMs, one with Gorham Stout disease and one with a large genitourinary (GU) LM, who were successfully treated with ALK inhibitors. This report adds ALK inhibitors to the growing toolbox of molecularly targeted therapies for LMs.

SACHA-France (NCT04477681) is a prospective real-world study that collects clinical safety and efficacy data of novel anticancer therapies prescribed off-label or on compassionate use to patients <25 years. From March 2020 until February 2024, 640 patients with solid tumors or lymphomas were included, with 176 (28%) reported objective tumor responses. Centralized medical monitoring of local radiological/functional imaging reports by the SACHA coordinating investigator led to response modification in 45 out of 176 cases (26%), highlighting the relevance of the medical review of study data. We suggest this pragmatic approach for improving clinical trial data when centralized radiological review is not performed.

In children with cancer, poor nutritional status adversely affects outcomes. Hypoalbuminemia is common in pediatric oncology patients, and in some groups is associated with inferior survival rates. We sought to determine if serum albumin associates with body mass index (BMI) percentile and if combining serum albumin and BMI is associated with survival.

Prognostic factors are crucial in tailoring treatments for patients with rhabdomyosarcoma (RMS). The European paediatric Soft tissue sarcoma Study Group (EpSSG) and the Children's Oncology Group (COG) employ similar prognostic factors, but utilize them differently resulting in diverse stratification systems. This diversity may result in dissimilar treatment approaches for comparable patients and hinder the comparison of clinical trial results.

Childhood cancer survivors (CCS) are at risk for medical and psychosocial late effects of their disease and its treatment and are recommended to receive annual follow-ups. Yet, rates of follow-up adherence are suboptimal and may be influenced by the organization and delivery of their healthcare. This research aimed to examine experts' perceptions of facilitators and barriers to healthcare organization and delivery to CCS.

While alopecia associated with chemotherapy, radiation, or hematopoietic stem-cell transplant (C/R/HSCT) is transient in most children, prior reports indicate nearly one in seven childhood cancer survivors suffer from persistent alopecia after their treatment is completed. The objective of our study was to better characterize the impact of C/R/HSCT-associated persistent alopecia on patient quality of life.

Evaluating the post-discharge health-related quality of life (HRQoL) in hemophagocytic lymphohistiocytosis (HLH) and exploring its influencing factors.

Pyruvate kinase (PK) activation is emerging as a promising treatment modality for numerous congenital hemolytic anemias of diverse pathophysiology, and one agent, mitapivat, is already licensed to treat patients with congenital PK deficiency. However, PK deficiency may also be acquired in the setting of clonal myeloid disorders and other pathologies, where it may result in severe hemolytic anemia and remains without known therapies. This case report describes the novel application of mitapivat therapy in a patient with acquired PK deficiency causing red cell transfusion dependence, liberating the patient from transfusions and resulting in marked improvement in symptoms and quality of life.

The survival of children with Burkitt lymphoma (BL) in sub-Saharan Africa is disproportionately low compared to high-income countries. In Malawi, many of these children are diagnosed in advanced stages. Early and accurate diagnosis is critical to survival of children with BL. This qualitative study evaluates factors influencing health-seeking decisions of guardians of children with BL in Northern and Central Malawi.