Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study.

Purpose: Selumetinib is a MEK inhibitor indicated for pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibromas (PNs).

Methods: This retrospective study collected data from 70 patients (aged 3 - 18 years) with NF1 and symptomatic inoperable PNs treated with selumetinib as part of compassionate use at 11 Italian centers between October 2018 and October 2024. Assessments included the clinical benefit rate (CBR) after 24 months and at the last observation.

Neurocognition in youth with versus without prediabetes.

Aims/hypothesis: Type 2 diabetes has a well-established link to cognitive impairment in older adults; however, studies often do not control for adiposity and co-morbid conditions which might mediate this cognitive impairment. To overcome these limitations, we investigated the relation between prediabetes and cognition in youth with overweight/obesity while controlling for adiposity in a cross-sectional ancillary study to the Pathogenesis of Youth Onset Diabetes (PYOD) study. We reasoned that if glucose control directly impacts brain health, then cognitive function should be worse in youth with versus without prediabetes.

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.

Background: Infantile myofibromatosis, a rare soft tissue neoplasm that may present at birth or in early infancy, is the most common fibrous tumor of infancy and early childhood. Diagnosis could be challenging due to different clinical presentation. Very few cases are detected prenatally and visceral involvement is extremely rare.

Bridging the gap in obesity research: A consensus statement from the European Society for Clinical Investigation.

Background: Most forms of obesity are associated with chronic diseases that remain a global public health challenge.

Aims: Despite significant advancements in understanding its pathophysiology, effective management of obesity is hindered by the persistence of knowledge gaps in epidemiology, phenotypic heterogeneity and policy implementation.

Materials And Methods: This consensus statement by the European Society for Clinical Investigation identifies eight critical areas requiring urgent attention.

Advancing multidisciplinary management of pediatric hyperinflammatory disorders.

Pediatric hyperinflammatory diseases, including Still's disease, Kawasaki disease (KD), multisystem inflammatory syndrome in children (MIS-C), and recurrent pericarditis (RP), represent a spectrum of conditions characterized by immune dysregulation and systemic inflammation. Each disorder exhibits distinct pathophysiological mechanisms and clinical features, yet their overlapping presentations often pose diagnostic challenges. Early and accurate differentiation is critical to mitigate complications such as macrophage activation syndrome (MAS), coronary artery aneurysms, and myocardial dysfunction.

Bone Remodeling in Children with Acute Lymphoblastic Leukemia: A Two-Year Prospective Longitudinal Study.

Unlabelled: Childhood leukemia survivors are at risk of long-term complications. Data on bone remodeling in childhood acute lymphoblastic leukemia (ALL) are limited. This 2-year prospective longitudinal study investigated bone remodeling and bone turnover markers at diagnosis, during treatment, and until stopping treatment, in ALL patients < 18 years, to clarify the influence of leukemia itself and/or chemotherapy on bone.

ATGL links insulin dysregulation to insulin resistance in adolescents with obesity and hepatosteatosis.

BACKGROUNDThis study examined the underlying cellular mechanisms associated with insulin resistance (IR) and metabolic disease risk within subcutaneous adipose tissue (SAT) in youth with obesity and IR compared with those without IR.METHODSThirteen adolescents who were insulin sensitive (IS) and 17 adolescents with IR and obesity underwent a 3-hour oral glucose tolerance test and MRI to measure abdominal fat distribution and liver fat content. Lipolysis was determined by glycerol turnover ([2H5]-glycerol infusion) and adipose triglyceride lipase (ATGL) phosphorylation (Western blot) from SAT samples biopsied prior to and 30-minutes following insulin infusion during a hyperinsulinemic-euglycemic clamp (HEC).

Risk Factors Associated With Food Selectivity in Infants and Toddlers.

Families of patients aged 3 to 6, evaluated between January and March 2023, were invited to respond to a questionnaire to investigate attitudes toward food in the first years of life. Based on the presence of food selectivity, 2 study groups were compared: 39 selective (42%) and 54 non-selective children (58%). Selective children tended to be less exposed to game activities with food ( < .

Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity.

Background: Rare variants in melanocortin 4 receptor gene (MC4R) result in a severe form of early-onset obesity; however, it is unclear how these variants may affect abdominal fat distribution, intrahepatic fat accumulation, and related metabolic sequelae.

Methods: Eight hundred seventy-seven youth (6-21 years) with overweight/obesity, recruited from the Yale Pediatric Obesity Clinic in New Haven, CT, underwent genetic analysis to screen for functionally damaging, rare variants (MAF < 0.01) in MC4R.

Daily glucose variability is associated with intrahepatic fat content, β cell sensitivity, and biomarkers of glycolysis in youth with obesity.

Objective: Pediatric obesity is associated with insulin resistance, which, in turn, impacts glucose and lipid metabolism. This study sought to assess how glucose variability relates to intrahepatic fat content, β cell insulin sensitivity, and glycolysis in youth with obesity.

Methods: A total of 27 youth with obesity (11 girls, BMI percentile, median [25th-75th percentiles]: 99.

Continuous Glucose Monitoring among Infants Born Very Preterm: Evidence for Accuracy in Neonatal Intensive Care.

Objective: To evaluate the accuracy of a device for continuous glucose monitoring (CGM) among infants born preterm admitted to the neonatal intensive care unit.

Study Design: We analyzed paired CGM sensor glucose (SG) and point-of-care blood glucose (BG) measurements collected in infants born at ≤32 weeks of gestation or with a birth weight ≤1500 g. CGM was initiated within 48 hours from birth and maintained for 5 days.

Massive Bone Marrow Infiltration by Disseminated Alveolar Rhabdomyosarcoma Mimicking Acute Leukemia.

RMS is a malignant tumor of soft tissues affecting primarily children and adolescents. Around 6% to 23% RMS patients present bone marrow infiltration but leukemia-like involvement is very rare; in these patients cytomorphology on bone marrow smears can lead to misdiagnosis. Differential diagnosis with alveolar RMS should be kept in mind in every pediatric patient presenting with a marked bone marrow involvement in the absence of typical lymphoproliferative findings.

Modeling Glucose, Insulin, C-Peptide, and Lactate Interplay in Adolescents During an Oral Glucose Tolerance Test.

Background: Lactate is not considered just a "waste product" of anaerobic glycolysis anymore. It has been proved to play a key role in several metabolic diseases, such as in the metabolic dysfunction-associated steatotic liver disease, obesity, and diabetes. The capability of simulating glucose-insulin-lactate interaction would be useful to design and test drugs targeting lactate metabolism in such pathological conditions.

Combining Brentuximab Vedotin With Dexamethasone, High-dose Cytarabine, and Cisplatin as Salvage Treatment in Pediatric Relapsed or Refractory Classic Hodgkin Lymphoma: Two Case Reports.

Hodgkin lymphoma (HL) is among the most commonly occurring malignancies in adolescents. For relapsed/refractory disease, many regimens have been proposed. Novel agents are increasingly used, like brentuximab vedotin (BV), an antiCD30 antibody-drug conjugate, used as a single agent or in combination with classic regimens mainly in adults, while limited is the experience in pediatrics.

Head and neck melanoma: the eyelid region has a better prognosis and easier management. A retrospective survey and systematic review.

Eyelid melanoma (EM) is a malignant neoplasm accounting for around 1% of eyelid malignancies. Because of its rarity, most of our knowledge of EM is currently based on studies of cutaneous melanomas located elsewhere. Accordingly, this study aimed to specifically evaluate EM characteristics, management strategies, and prognosis.

A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma.

Nuclear protein of the testis carcinoma is an exceedingly rare and poorly differentiated carcinoma characterized by BDR4::NUTM1 gene translocation. Typically, the tumor affects young adults, and no standardized recommendations for therapeutic management have been available since 2022; the clinical course remains mostly dismal. We report the successful multimodal treatment of a 13-year-old boy affected by a primary chest NUT-carcinoma with a novel NUTM1 rearrangement that remains in complete continuous remission at 30 months from diagnosis.

Modelling and assessment of glucose-lactate kinetics in youth with overweight, obesity and metabolic dysfunction-associated steatotic liver disease: A pilot study.

Aim: In this study, we investigated glucose and lactate kinetics during a 75 g oral glucose tolerance test (OGTT) in 23 overweight and obese adolescents and assessed putative differences among participants with and without metabolic dysfunction-associated steatotic liver disease (MASLD).

Methods: We enrolled 23 young people (six girls) with obesity [body mass index 33 (29-37)]. Glucose-lactate kinetics parameters (disposal glucose insulin sensitivity, SI; fraction of glucose converted into lactate, fr; fractional lactate clearance rate, k) and lactate production rate (LPR) were estimated using the oral glucose-lactate minimal model.

Effect of Music Therapy on Chemotherapy Anticipatory Symptoms in Adolescents: A Mixed Methods Study.

Introduction: This study explores the feasibility and effects of music therapy on anticipatory nausea and vomiting, stress, pain and quality of life in adolescents undergoing chemotherapy.

Methods: This is a single group, quasi-experimental study using pre/post-test design. Participants received four individual sessions of music therapy (MT), led by a certified music therapist.

Healthcare migration in Italian paediatric haematology-oncology centres belonging to AIEOP.

Background: In Italy, there is a network of centres headed by the Italian Association of Pediatric Hematology and Oncology (AIEOP) for the diagnosis and treatment of paediatric cancers on almost the entire national territory. Nevertheless, migration of patients in a hospital located in a region different from that of residence is a widespread habit, sometimes motivated by several reasons. The aim of this paper is to assess the impact of migration of children with cancer to AIEOP centres in order to verify their optimal distribution throughout the national territory.

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management.

Periocular sebaceous carcinoma (PSC) is a rare, aggressive, and potentially metastatic adnexal malignancy. Due to the ability of PSC to resemble several benign and malignant conditions, diagnosis is often delayed or mistaken. In addition, even with a known diagnosis, choosing the right treatment is still an open debate.

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.

Introduction: Pediatric obesity has steadily increased in recent decades. Large-scale genome-wide association studies (GWAS) conducted primarily in Eurocentric adult populations have identified approximately 100 loci that predispose to obesity and type II diabetes. GWAS in children and individuals of non-European descent, both disproportionately affected by obesity, are fewer.

Incretin effect determines glucose trajectory and insulin sensitivity in youths with obesity.

In youths with obesity, the gut hormone potentiation of insulin secretion - the incretin effect - is blunted. We explored the longitudinal impact of the incretin effect during pubertal transition on β cell function and insulin sensitivity. Youths with obesity and 2-hour glucose level ≥ 120 mg/dL underwent a 3-hour oral glucose-tolerance test (OGTT) and an isoglycemic i.

The lncOb rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity.

Objective: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long noncoding RNA (lncOb) has been described. This retrospective study aims to characterize the clinical and metabolic phenotype of children and adolescents with obesity who were homozygous for the lncOb rs10487505 leptin lowering allele.