Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.

The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse stimuli. These variants functionally converge towards the overactivation of the pathway, leading to various constitutional and mosaic conditions. These syndromes show overlapping though distinct clinical presentations and share congenital heart defects, hypertrophic cardiomyopathy (HCM), and lymphatic dysplasia as major clinical features, with highly variable prevalence and severity.

The digital era of pediatric urological clinical care: telemedicine for management of lower urinary tract symptoms and nocturnal enuresis - a comprehensive tertiary center insight.

Background: Lower urinary tract symptoms (LUTS) and nocturnal enuresis (NE) are complex conditions requiring a long-term follow-up. Telemedicine is an emerging technological tool in the surgical field, and its availability exponentially grew during the COVID-19 pandemic, expanding its application fields, optimizing technical aspects, reducing costs, and ensuring high-quality standards. This work describes our experience with telemedicine in a Division of Pediatric Urology for the follow-up of enuresis and LUTS.

An expert consensus on prevention, diagnosis, and management of hemorrhagic cystitis in pediatric hematopoietic cell transplantation, on behalf of the Infectious Disease and Hematopoietic Cell Transplant Working groups of Italian Pediatric Hematology Oncology Association (AIEOP).

The optimal management of hemorrhagic cystitis (HC) in hematopoietic stem cell transplantation (HCT) is debated, both for early onset HC (EOHC) secondary to chemotherapy toxicity and BK Polyomavirus (BKPyV)-related HC, due to the lack of controlled trials, particularly referred to pediatric setting. Actually, clinical practice is mainly based on guidelines of the European Conference on Infections in Leukemia, 6 edition, which considers both adult and pediatric populations but concludes that, despite much progress in understanding the pathogenesis, epidemiology, and risk factors, this complication still represents a disabling unmet clinical need with limited prophylactic and therapeutic options. Additionally, the Guidelines of the American Society of Clinical Oncology define the management of chemotherapeutic toxicity independently from the patients' population.

Prolonged 14-day continuous infusion of high-dose ifosfamide for patients with relapsed and refractory high-grade osteosarcoma: a retrospective multicentre cohort study.

Background: The prognosis of patients with Relapsed/Refractory Osteosarcoma (R/R OS) remains dismal without an agreement on systemic therapy. The use of High-Dose Ifosfamide (14 g/sqm) with an external pump in outpatient setting (14-IFO) in R/R OS patients is limited. This study represents the first retrospective cohort analysis focused on evaluating the activity and toxicity of 14-IFO in this setting.

Persistent Valvular Regurgitation After Acute Rheumatic Fever: Early Predictors of Long Term Outcomes in a Pediatric Retrospective Cohort.

Describe the echocardiographic evolution of valvular regurgitation in patients with rheumatic carditis (RC) and to establish which features may predict long-term outcome, in the absence of acute rheumatic fever (ARF) relapse. Retrospective cohort study. 123 patients with confirmed RC, diagnosed at Turin Children's Hospital between 2010 and 2019.

Low-density cultured cartilage cells expanded in platelet lysate present distinct features to develop an innovative clinical treatment for diffuse cartilage lesions.

Purpose: Chondrocyte-based cell therapies are effective for the treatment of chondral lesions, but remain poorly indicated for diffuse lesions in the context of early osteoarthritis (OA). The aim of this study was to develop a protocol to obtain chondroprogenitor cells suitable for the treatment of diffuse chondral lesions within early OA.

Methods: Cartilage cells were expanded at low density in human platelet lysate (hPL).

International consensus on sleep problems in pediatric palliative care: Paving the way.

Objective: Sleep problems constitute a common and heterogeneous complaint in pediatric palliative care (PPC), where they often contribute to disease morbidity and cause additional distress to children and adolescents and their families already facing the burden of life-threatening and life-limiting conditions. Despite the significant impact of sleep problems, clinical evidence is lacking. The application of general pediatric sleep recommendations appears insufficient to address the unique challenges of the PPC dimension in terms of disease variability, duration, comorbidities, complexity of needs, and particular features of sleep problems related to hospice care.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high prevalence of HCM. Among these, NM_002880.

The burden of radiation exposure in congenital heart disease: the Italian cohort profile and bioresource collection in HARMONIC project.

Background: The European-funded Health Effects of Cardiac Fluoroscopy and Modern Radiotherapy in Pediatrics (HARMONIC) project aims to improve knowledge on the effects of medical exposure to ionizing radiation (IR) received during childhood. One of its objectives is to build a consolidated European cohort of pediatric patients who have undergone cardiac catheterization (Cath) procedures, with the goal of enhancing the assessment of long-term radiation-associated cancer risk. The purpose of our study is to provide a detailed description of the Italian cohort contributing to the HARMONIC project, including an analysis of cumulative IR exposure, reduction trend over the years and an overview of the prospective collection of biological samples for research in this vulnerable population.

Lumasiran treatment in pediatric patients with PH1: real-world data within a compassionate use program in Italy.

Background: Primary hyperoxaluria (PH) is a rare, severe genetic disorder, characterized by increased urinary excretion of calcium oxalate, which is responsible for kidney damage and systemic clinical manifestations. Since the year 2020, a new molecule, lumasiran, based on RNA interference (RNAi) technology, has been added to the traditional therapeutic approach. The aim of this analysis was to define the baseline characteristics of a PH1 pediatric population treated with lumasiran in a compassionate-use program setting, and to evaluate the medium-term efficacy of this drug in the routine clinical setting.

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The most common signs of rickets are swelling of the wrists, knees or ankles, bowing of the legs (knock-knees, outward bowing, or both) and inability to walk.

Red Code Management in a Pediatric Emergency Department: A Retrospective Study.

The "red code" (RC) represents the highest level of emergency in the emergency department (ED). This study retrospectively analyzed RCs in the Regina Margherita Children's Hospital ED, a regional referral center in north Italy, between 1 July 2020 and 30 June 2023. The aim was to describe RC characteristics and to identify significant correlations between presenting complaints and clinical management.

Diagnosis and Management of Congenital H-Type Tracheoesophageal Fistula: Results of a National Survey.

Background: Congenital h-type tracheoesophageal fistula (H-TEF) without esophageal atresia (EA) represents about 4% of congenital esophageal anomalies. The diagnosis is challenging, and surgery is considered curative. The aim was to report a national survey on the diagnosis, management, and outcome of patients with congenital H-TEF.

Growth impairment in children with atrophic autoimmune thyroiditis and pituitary hyperplasia.

Background: Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infrequent in autoimmune thyroiditis, if timely diagnosed.

The power of art and the powers of adolescents with cancer: Age-specific projects at Italian pediatric oncology centers.

This article describes the oncology programs developed in Italy for adolescents and young adults with cancer, with a specific focus on the local projects created in pediatric oncology centers. A common feature of such projects is the emphasis on creative and artistic activities and laboratories (involving music, photography, novel writing, fashion design, and so on) designed to give young patients innovative means of expression.This article highlights the amazing powers of adolescents involved in these projects: the power to produce beautiful things in a place that is not normally associated with the idea of beauty; the power to make their doctors smile and grasp the profound sense of life; the power to make hospitals become places for producing culture.

EMDR in pediatric hospital setting: a case report of an adolescent with cancer.

Introduction: Childhood cancer is rare, but it is the most frequent serious event with a high risk of traumatization for children, adolescents, parents and siblings. EMDR is widely studied as clinical intervention that addressed cancer-related stressors among cancer adult population, but to our knowledge, no researches have been conducted among children and adolescent with cancer.

Methods: The purpose of this case study is to describe for the first time the application of the EMDR protocol in a pediatric hospital setting with a 17-years-old Italian adolescent who received a diagnosis of leukemia.

Oral Health-Related Quality of Life in Italian Children and Adolescents Living with Bone Dysplasia: A Cross-Sectional Study.

Bone dysplasia (BD) refers to a group of rare disorders characterized by skeletal and dental anomalies which may negatively influence oral health-related quality of life (OHRQoL). The aim of this cross-sectional study was to assess the impact of BD on OHRQoL in Italian children and adolescents and to assess whether gender and age influence their OHRQoL. A total of 40 patients with BD and 40 age- and gender-matched controls (aged 8-14 years) were asked to complete the Oral Health Impact Profile-14 (OHIP-14), Child Oral Health Impact Profile (COHIP), and the short form of the Child Perceptions Questionnaire (SF-CPQ).

Mobile health technology in pediatric EGD quality indicators assessment: results from a national program of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition.

Background And Aims: Upper endoscopy (UE) procedures (EGD and ERCP) are an established standard of care in pediatric gastroenterology. The Pediatric Endoscopy Quality Improvement Network (PEnQuIN) recently published its pediatric-specific endoscopy quality guidelines. This study, initiated by the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition, aims to evaluate the adherence of Italian pediatric endoscopy centers (PECs) to these established quality standards.

An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis: report of a new paediatric case and a review of the literature.

Introduction: Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements.

Case Presentation And Review Of The Literature: Here we describe the case of a 6-months-old male, previously treated in another hospital for abdominal rhabdomyosarcoma (RMS). Histological re-examination demonstrated that the tumour had mesenchymal and neuroectodermal elements components, with a new diagnosis of abdominal-pelvic MEM.