Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?

Niemann-Pick disease (NPD) type A and type B are part of the spectrum disease of the acid sphingomyelinase deficiency (ASMD). Plasma lipid abnormalities are frequently associated with both NPD-A and NPD-B, and include decreased high-density lipoprotein cholesterol (HDL-C), increased low-density lipoprotein cholesterol (LDL-C), and hypertriglyceridemia. The atherogenic lipid profile has been associated to early atherosclerotic vascular disease and coronary artery disease in NPD-B patients.

Altered Taste Function in Young Individuals With Type 1 Diabetes.

Past studies on altered taste function in individuals with type 1 diabetes have yielded inconsistent results. We therefore evaluated taste recognition and possible association with personal and diseases characteristics in young individuals with type 1 diabetes and healthy controls. Taste recognition and intensity for 6-n-propylthiouracil (PROP), quinine, citric acid, sucrose, and sodium chloride were assessed using a filter paper method in 276 participants with type 1 diabetes and 147 healthy controls.

A systematic review of the prevalence, risk factors and screening tools for autonomic and diabetic peripheral neuropathy in children, adolescents and young adults with type 1 diabetes.

Aims: We aimed to estimate the prevalence of Diabetic peripheral neuropathy (DPN) and Cardiac autonomic neuropathy (CAN) in youth with type 1 diabetes; identify key risk factors; identify the most useful tests for the diagnostic evaluation of DPN and CAN; identify key treatment options for DPN and CAN.

Methods: A systematic search was performed including studies published in the last 15 years. PICO framework was used in the selection process and evidence was assessed using the GRADE system.

Educational Intervention of Healthy Life Promotion for Children with a Migrant Background or at Socioeconomic Disadvantage in the North of Italy: Efficacy of Telematic Tools in Improving Nutritional and Physical Activity Knowledge.

The aim of the "Smuovi La Salute" ("Shake Your Health") project was to implement an integrated and comprehensive model to prevent and treat overweight and obesity in low socioeconomic status (SES) and minority groups living in three different districts in the north of Italy. An app and a cookbook promoting transcultural nutrition and a healthy lifestyle were developed, and no-cost physical activities were organized. Healthy lifestyle teaching was implemented in 30 primary school classrooms.

Determinants of severe bradycardia in adolescents hospitalized for anorexia nervosa.

Background: Severe bradycardia is an indication supporting hospitalization in adolescents with eating disorders. Some adolescents with anorexia nervosa (AN) and significant weight loss present with a normal pulse rate at admission, whereas others have severe bradycardia, suggesting that total weight loss is not the most important determinant of bradycardia. The aims of this study were to define the prevalence of severe bradycardia as the cause for hospital admission in adolescents with AN, to evaluate correlations between known determinants of severe bradycardia and pulse rate at admission, and to evaluate the average time required to recover from severe bradycardia after re-feeding.

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.

Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.

Introduction: The PI3K/AKT/mTOR signaling pathway is important for the regulation of multiple biological processes, including cellular growth and glucose metabolism. Defects of the PI3K/AKT/mTOR signaling pathway are not usually considered among the genetic causes of recurrent hypoglycemia in childhood. However, accumulating evidence links hypoglycemia with defects of this pathway.

Failure to thrive in infant and toddlers: a practical flowchart-based approach in a hospital setting.

Background: Failure to thrive is a common reason for referral to paediatric services. Malnutrition or inadequate caloric intake is the most common cause, while organic form is unlikely in children who are asymptomatic and healthy on examination. By this study we evaluate the application of a cost-effective flow chart that helps the clinician in a hospital setting discern accurately organic and non-organic failure to thrive.

Thermal management with and without servo-controlled system in preterm infants immediately after birth: a multicentre, randomised controlled study.

Background: The thermal servo-controlled systems are routinely used in neonatal intensive care units (NICUs) to accurately manage patient temperature, but their role during the immediate postnatal phase has not been previously assessed.

Objective: To compare two modalities of thermal management (with and without the use of a servo-controlled system) immediately after birth.

Study Design And Setting: Multicentre, unblinded, randomised trial conducted 15 Italian tertiary hospitals.

Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late closure of the fontanels, dental problems and other skeletal features. CCD is caused by mutations, deletions or duplications in runt-related transcription factor 2 (RUNX2), which encodes for a protein essential for osteoblast differentiation and chondrocyte maturation. We describe three familial cases of CCD, misdiagnosed as rickets over three generations.

Iliopsoas abscess in adolescents with type 1 diabetes mellitus.

Iliopsoas abscesses have been reported in adult diabetic patients, but only one case has been so far reported in the pediatric diabetic literature. We report three cases of iliopsoas abscesses in three adolescents with type 1 diabetes mellitus, suggesting that an increased awareness of this condition is required for its early recognition and prompt treatment.

Severe bleeding due to acquired hypoprothrombinemia-lupus anticoagulant syndrome. Case report and review of literature.

A 17-year-old girl was admitted to our department with a hemorrhagic syndrome due to a serious coagulopathy; prothrombin time (PT) INR was 2.46 and the activated partial thromboplastin time (aPTT) ratio 3.46.

Postirradiation meningioma.

A case of meningioma of the posterior cranial fossa is reported. The tumor developed 12 years after radiation treatment for a polar spongioblastoma of the cerebellum in an 8-year-old boy. The possible role of the radiation in the oncogenesis of the second tumor is discussed.