Peripheral T-Cell Lymphoma-NOS in Children and Adolescents: a Review from the Children's Oncology Group NHL Committee.

Peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) is a rare mature T-cell non-Hodgkin lymphoma (NHL) seen in both children and adults. While it is the most common non-anaplastic mature T-cell lymphoma of childhood, it is quite rare and therefore, the standard of care remains largely undefined. It is a disease characterized by clinical and pathological heterogeneity and is generally associated with an aggressive clinical course and poor prognosis in adults.

Lineage-dependence of the neuroblastoma surfaceome defines tumor cell state-dependent and independent immunotherapeutic targets.

Background: Neuroblastoma is a heterogeneous disease with adrenergic (ADRN)- and therapy resistant mesenchymal (MES)-like cells driven by distinct transcription factor networks. Here, we investigate the expression of immunotherapeutic targets in each neuroblastoma subtype and propose pan-neuroblastoma and cell state specific targetable cell-surface proteins.

Methods: We characterized cell lines, patient-derived xenografts, and patient samples as ADRN-dominant or MES-dominant to define subtype-specific and pan-neuroblastoma gene sets.

Impacts of Ethical Dilemmas and Moral Distress in Pediatric Hematology Oncology Nurses.

Purpose: To assess the level of moral distress (MD) and perceptions of ethical climate among pediatric hematology/oncology (PHO) nurses and to identify bioethics topics where increased education was desired.

Methods: In this cross-sectional study, we administered the 26-item Swedish Moral Distress Scale-Revised (sMDS-R), specifically revised and validated for pediatric oncology, in conjunction with the Clinical Ethics Needs Assessment Survey (CENAS). Electronic surveys were sent to inpatient and outpatient PHO nurses.

An image dataset for surveillance of personal protective equipment adherence in healthcare.

Proper personal protective equipment (PPE) use is critical to prevent disease transmission to healthcare providers, especially those treating patients with a high infection risk. To address the challenge of monitoring PPE usage in healthcare, computer vision has been evaluated for tracking adherence. Existing datasets for this purpose, however, lack a diversity of PPE and nonadherence classes, represent single not multiple providers, and do not depict dynamic provider movement during patient care.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.

Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.

Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.

Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.

Control of striatal circuit development by the chromatin regulator .

The pathophysiology of neurodevelopmental disorders involves vulnerable neural populations, including striatal circuitry, and convergent molecular nodes, including chromatin regulation and synapse function. Despite this, how epigenetic regulation regulates striatal development is understudied. Recurrent de novo mutations in are associated with intellectual disability and autism.

Maralixibat Reduces Serum Bile Acids and Improves Cholestatic Pruritus in Adolescents With Alagille Syndrome.

Background: Alagille syndrome (ALGS) is a multisystem cholestatic disorder. Maralixibat is approved for the treatment of cholestatic pruritus in ALGS with limited data in adults.

Methods: Participants were included if they received ≥ 2 doses of maralixibat at age ≥ 16 years in one of the three previously published maralixibat ALGS clinical trials.

Design and validation of cell-based potency assays for frataxin supplementation treatments.

Friedreich's ataxia (FRDA) is a multisystem, autosomal recessive disorder caused by mutations in the frataxin () gene. As FRDA is considered an FXN deficiency disorder, numerous therapeutic approaches in development or clinical trials aim to supplement FXN or restore endogenous expression. These include gene therapy, protein supplementation, genome editing or upregulation of transcription.

Response to induction chemotherapy modifies the effect of conventional prognostic factors in high-risk neuroblastoma: A report from the Children's Oncology Group.

Background: Response to induction chemotherapy has been shown to predict outcome in patients with high-risk neuroblastoma (HR-NB), with those achieving a complete response (CR) having superior outcomes.

Methods: We evaluated whether conventional prognostic factors remain prognostic in subsets of patients defined by response to induction. 1244 Patients from four COG high-risk trials were included.

Integrated Business and Engineering Educational Experience for Medical Students in the Development of Pediatric Medical Devices.

Background: There are few opportunities in undergraduate medical education that provide formal training in engineering and scientific innovation. Institutions have sought to address student-specific career goals through combined degree programs such as the Medical Scientist Training Program and MD/MBA. However, only a small percentage of medical students pursue these additional degrees.

Frequency and reasons that parents decline genetic testing for critically ill neonates.

Purpose: Current literature reports strong support among parents for genetic testing for ill neonates; yet, some parents decline this testing for unknown reasons. We aimed to document the proportion of parents who decline, describe their clinical and demographic characteristics, and categorize their rationales.

Methods: We reviewed medical records to collect and compare clinical and demographic information for patients whose parents consented to and declined recommended genetic testing.

Metastatic Squamous Cell Carcinoma Treated With Pembrolizumab in a Patient With Xeroderma Pigmentosum.

A 5-year-old male with xeroderma pigmentosum from Honduras presented with a rapidly growing mass on the left post-auricular neck, associated with left-sided hearing loss. MRI revealed a large mass with invasion of the external auditory canal, temporal bone, and metastasis to lymph nodes. Biopsy confirmed moderately differentiated squamous cell carcinoma (SCC).

A Retrospective Review of Oral N-Acetylcysteine for Habit-Driven Cutaneous Disorders.

Oral N-acetylcysteine (NAC) has shown efficacy for debilitating habit-driven and neuropsychiatric disorders in small, mostly adult studies. We retrospectively evaluated the therapeutic use and safety of oral NAC in 93 children from the Children's Hospital of Philadelphia. This study supports the use of oral NAC for habit-driven skin, hair, and nail abnormalities in pediatric patients.

Brain-wide neuronal circuit connectome of human glioblastoma.

Glioblastoma (GBM) infiltrates the brain and can be synaptically innervated by neurons, which drives tumor progression. Synaptic inputs onto GBM cells identified so far are largely short-range and glutamatergic. The extent of GBM integration into the brain-wide neuronal circuitry remains unclear.

Investigation of a targeted panel of gut microbiome-derived toxins in children with chronic kidney disease.

Background: The gut-kidney axis is implicated in chronic kidney disease (CKD) morbidity. We describe how a panel of gut microbiome-derived toxins relates to kidney function and neurocognitive outcomes in children with CKD, consisting of indoleacetate, 3-indoxylsulfate, p-cresol glucuronide, p-cresol sulfate, and phenylacetylglutamine.

Methods: The Chronic Kidney Disease in Children (CKiD) cohort is a North American multicenter prospective cohort that enrolled children aged 6 months to 16 years with estimated glomerular filtration rate (eGFR) 30-89 ml/min/1.

Trial of Labor After Cesarean Delivery in Individuals With Twin Pregnancies and Two Prior Cesarean Deliveries.

Objective: To investigate short-term maternal and neonatal outcomes in individuals with twin pregnancies and two prior cesarean deliveries who underwent trial of labor after cesarean (TOLAC).

Methods: A cross-sectional study of live-birth data was conducted between 2014 and 2021 in the United States. Individuals with more than two prior cesarean deliveries and multiple gestations higher than twins were excluded.

The FBXO45-GEF-H1 axis controls germinal center formation and B-cell lymphomagenesis.

The role of ubiquitin-mediated degradation mechanisms in the pathogenesis of diffuse large B cell (DLBCL) and follicular lymphoma (FL) is not completely understood. We show that conditional deletion of the E3 ubiquitin ligase Fbxo45 in germinal center B-cells results in B-cell lymphomagenesis in homozygous (100%) and heterozygous (48%) mice. Mechanistically, FBXO45 targets the RHO guanine exchange factor ARHGEF2/GEF-H1 for ubiquitin-mediated degradation.

Mode of Delivery and Subsequent Motor Function in Children With Myelomeningocele Without In Utero Repair.

Objective: To assess the association between mode of delivery and 2-year motor function in children with prenatal diagnosis of myelomeningocele.

Methods: A multisite retrospective cohort study of children with myelomeningocele across 14 NAFTNet (North American Fetal Therapy Network) centers born between 2007 and 2020 who had a physical examination available at 2 years of life. Exclusion criteria were in utero myelomeningocele repair, postnatal myelomeningocele diagnosis, missing data on fetal presentation at delivery, and contraindications to labor.

Biomarker Panels for Discriminating Risk of CKD Progression in Children.

Background: We have previously studied biomarkers of tubular health (EGF), injury (KIM-1), dysfunction (alpha-1 microglobulin), and inflammation (TNFR-1, TNFR-2, MCP-1, YKL-40, suPAR), and demonstrated that plasma KIM-1, TNFR-1, TNFR-2 and urine KIM-1, EGF, MCP-1, urine alpha-1 microglobulin are each independently associated with CKD progression in children. In this study, we used bootstrapped survival trees to identify a combination of biomarkers to predict CKD progression in children.

Methods: The CKiD Cohort Study prospectively enrolled children 6 months to 16 years old with an eGFR of 30-90 ml/min/1.

Social, Emotional, and Behavioral Functioning in Adolescents with Klinefelter Syndrome.

Objective: Klinefelter syndrome (KS) is a common genetic condition in males associated with an extra X chromosome (i.e., 47,XXY).

Chartering Patient Flights for Surgery in a Road Inaccessible Nation: The Samaritan's Purse Cleft Lip Missions Model in South Sudan.

Introduction: Few patients in South Sudan have access to cleft lip repair due to limitations in health care facilities, personnel and road infrastructure. Samaritan's Purse is a non-governmental organization that provides chartered flights from road inaccessible regions to a single central hospital in this nation's capital. This study's purpose was to describe the chartered flight model for conducting nationwide cleft lip mission trips.

Explanatory capacity of measures of community context for paediatric injury hospitalisations in the USA.

Objective: Community context influences children's risk for injury. We aimed to measure the explanatory capacity of two ZIP code-level measures-the Child Opportunity Index V.3.

Looped Penrose Drainages of Acute Hand Infections in Vulnerable Populations.

Purpose: Acute hand infections (AHIs) remain a challenge for hand surgeons and represent a condition for which clinical outcomes are considerably affected by social barriers. We previously described the looped Penrose drainage technique, where a drain is sutured to itself in a loop and the outflow tract of egress is maintained, thus obviating the need for large incisions, wound closure, or repeat packing, thereby reducing the follow-up burden. In the face of escalating numbers of socioeconomically vulnerable patients, especially in urban settings, we aimed to characterize the clinical features and outcomes of this technique in an urban population of patients with AHI.