Synchronized Contrast-Enhanced 4DCT Simulation for Target Volume Delineation in Abdominal SBRT.

To present the technical aspects of contrast-enhanced 4DCT (ce4DCT) simulation for abdominal SBRT. Twenty-two patients underwent two sequential 4DCT scans: one baseline and one contrast-enhanced with personalized delay time () calculated to capture the tumor in the desired contrast phase, based on diagnostic triple-phase CT. The internal target volume (ITV) was delineated on ten contrast phases, and a panel of three experts qualitatively evaluated tumor visibility.

Impaired salivary gland function in children with osteogenesis imperfecta: a case-control study.

Objectives: The aim of the present study was to evaluate salivary gland function and oral health status in Osteogenesis imperfecta (OI) children, comparing to a control group, and to investigate the possible influence of bisphosphonate (BP) treatment.

Materials And Methods: Patients aged 8-15 years with any OI molecularly confirmed and gender-matched healthy control were consecutively recruited at the Section of Pediatric Dentistry (Dental School-University of Turin). Comprehensive dental examinations were conducted to evaluate carious lesions, plaque and gingival index, stimulated saliva flow rate, pH, and buffer capacity.

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome.

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study.

Background: Infants with Down syndrome (DS) are at high risk of obstructive sleep apnoea (OSA) which is associated with neurocognitive dysfunction and behaviour problems. The aim of our study was to evaluate the effect of early OSA treatment in infants with DS on neurocognitive development and behaviour.

Methods: In this prospective, interventional, non-randomised study, 40 infants with DS underwent polysomnography (PSG) every 6 months in room air between 6 and 36 months of age () and were compared to a control group of 40 infants with DS receiving standard of care and a single, systematic PSG in room air at 36 months of age ().

Ten-Year Follow-Up of Fellow Eyes in Patients with Unilateral Naïve Exudative AMD.

Purpose: To determine the 10-year morphological outcomes and identify potential risk factors for exudative AMD in the fellow eyes (FE) in patients with naïve exudative AMD.

Methods: Data from 100 patients were retrospectively reviewed. Baseline macular neovascularization (MNV) type in the exudative AMD eye and presence of drusen, intraretinal hyperreflective foci (iHRF), non-foveal incomplete atrophy (iRORA), central retinal thickness and subfoveal choroidal thickness in the FEs were analyzed as biomarkers for progression in the second eye.

International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

Six-Degree-of-Freedom Freehand 3D Ultrasound: A Low-Cost Computer Vision-Based Approach for Orthopedic Applications.

In orthopedics, X-rays and computed tomography (CT) scans play pivotal roles in diagnosing and treating bone pathologies. Machine bulkiness and the emission of ionizing radiation remain the main problems associated with these techniques. The accessibility and low risks related to ultrasound handling make it a popular 2D imaging method.

Neurological dysfunction screening in a cohort of adolescents with type 1 diabetes: a six-year follow-up.

Aims: Diabetic neuropathy (DN) is one of the most insidious microvascular complications in patients with type 1 diabetes (T1DM) and initial signs may appear during childhood. The aim of this study is to evaluate associations between the Nerve Conduction Studies (NCS) outcomes at enrollment with neuropathy screening questionnaires performed six years later in a cohort of asymptomatic adolescents followed up until early adulthood, affected by T1DM.

Methods: We performed NCS in a cohort of seventy-two adolescents with T1DM and eighteen healthy controls.

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.

Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.

Background: The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C) levels, increased in the proband and relatives, and its inheritance. Two other relevant parameters are symptoms, rarely occurring in children, as rare are the FH homozygous patients, and the mutation detection of related genes. The latter allows the final diagnosis, although it is not commonly available.

High Fat Diet and Polycystic Ovary Syndrome (PCOS) in Adolescence: An Overview of Nutritional Strategies.

Polycystic ovary syndrome (PCOS) is a multifaceted and heterogeneous disorder, linked with notable reproductive, metabolic, and psychological outcomes. During adolescence, key components of PCOS treatment involve weight loss achieved through lifestyle and dietary interventions, subsequently pursued by pharmacological or surgical therapies. Nutritional interventions represent the first-line therapeutic approach in adolescents affected by PCOS, but different kinds of dietary protocols exist, so it is necessary to clarify the effectiveness and benefits of the most well-known nutritional approaches.

Apolipoprotein B and Lipid Profile in Italian Children and Adolescents.

Rationale: The prevention of cardiovascular (CV) disease is mandatory from childhood onwards. Among biochemical markers related to the clinical cardiovascular outcome, LDL cholesterol (LDL-C), non-HDL-C and apolipoprotein B (ApoB) are recognized as main target parameters. Emphasis on ApoB concentrations is growing, as representative of any class of atherogenic lipoprotein.

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.

Purpose: Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) project was to improve the care provided to patients with TS by harnessing the knowledge and expertise of various Italian centers through a Delphi-like consensus process.

Methods: A panel of 15 physicians and 1 psychologist discussed 4 key domains: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders.

The diagnostic role of arginine-stimulated copeptin in the differential diagnosis of polyuria-polydipsia syndrome (PPS) in pediatric age.

Purpose: In recent years, copeptin stimulation through arginine administration has been evaluated as a new potential tool in the differential diagnosis of polyuria-polydipsia syndrome (PPS) in adults; to date very few data, all retrospective, exist in pediatric age. The aim of this prospective study is to evaluate the diagnostic performance of the arginine-stimulation test for copeptin in a cohort of pediatric patients affected by PPS.

Methods: All children (<18 years) referred to the Department of Pediatric Endocrinology of the Regina Margherita Children Hospital for polyuria-polydipsia in the period January 2021-June 2023 were enrolled.

Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol.

Background: Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors.

Effect of long term noninvasive ventilation in children on parent's quality of life.

Objective: Improving or maintaining the quality of life of the family of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) is a major concern; but studies are scarce. The aim of the study was to evaluate the impact of long term CPAP or NIV in children on anxiety, depression, quality of sleep, and quality of life of their parents.

Methods: Validated questionnaires evaluating anxiety and depression (hospital anxiety and depression scale), sleep quality (Pittsburgh sleep quality index), daytime sleepiness (Epworth sleepiness scale), and parents' quality of life (PedsQL family impact module) were completed by parents of children who were started on CPAP/NIV before (M0) and after 6-9 months (M6) of treatment.