Eligibility for competitive sport medical certification of children with severe hemophilia: Italian observational study.

Background ad aim of workː the position of Italian law regarding participation of prophylactically treated hemophiliacs to organized sport trainings and competitions remains unclear and this study focuses on the eligibility of pediatric patients in particular. Methodsː 16 patients age 3 to 15 years old, with severe haemophilia and prophylaxis starting age of 20,2 ± 2,2 months were enrolled. Weight, height, body mass index (BMI) and joint status (Hemophilia Joint Health Score [HJHS] and Haemophilia Early Arthropathy Detection with UltraSound, HEAD-US score) of patients were evaluated at start (T0) and after 12 months (T12) of a HIITS sport activity program. Resultsː All patients qualified for Italian competitive sport medical certification. Their weight and height increased after 12 months, without an increase in BMI (T0= 17,2; T1= 18,7; p>0,05). HJHS score did not change significantly (T0: 1.6 ± 1; T1: 2.1 ± 1.3; p>0.05). All children were right-handed and atrophy for the muscles of the right elbow significantly decreased (no atrophy seen at T0 in 4 of 16 patients and at T1 in 8 of 16 patients; p=0.045). Conclusionsː Hemophilic children, prophylactically treated, are capable to be included in sport groups and physical activity programs.

Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update.

Childhood obesity is a modern worldwide epidemic with significant burden for health. It is a chronic metabolic disorder associated with multiple cardiovascular risk factors such as dyslipidemia, hypertension, stroke, and insulin resistance. Many obese adolescents remain obese into adulthood, with increased morbidity and mortality. As childhood obesity is a risk factor for adult obesity, the childhood obesity-related disorders account for an increased risk of cardiovascular consequences in adults, in addition to the effects already exerted by the fat mass in adulthood. Several papers have already described the cardiovascular implications of idiopathic obesity, while few data are available about syndromic obesity, due to the small sample size, not homogeneous phenotypes, and younger age at death. The aim of this mini-review is to give a comprehensive overview on knowledge about cardiovascular implications of idiopathic and syndromic obesity to allow the reader a quick comparison between them. The similarities and differences will be highlighted.

Treatment Options for MODY Patients: A Systematic Review of Literature.

Maturity-onset diabetes of the young (MODY) is an unusual form of diabetes with specific features that distinguish it from type 1 and type 2 diabetes. There are 14 known subtypes of MODY, and mutations in three genes (HNF1A, HNF4A, GCK) account for about 95% of all MODY cases. Diagnosis usually occurs before the age of 25 years, although less frequent forms may occur more often-but not necessarily-later in life. The molecular diagnosis may tailor the choice of the most appropriate treatment, with the aim to optimize blood glucose control, reduce the risk of hypoglycemic events and long-term complications, and enable proper genetic counseling. Treatment is usually unnecessary for patients with mutations in the GCK gene, while oral hypoglycemic agents (generally sulphonylureas) are recommended for patients with mutations in the HNF4A and HNF1A genes. More recent data show that other glucose-lowering agents can be effective in the latter patients, and additional and alternative therapies have been proposed. Proper management guidelines during pregnancy have been developed for carriers of GCK gene mutations, but such guidelines are still a subject of debate in other cases, although some recommendations are available. The other subtypes of MODY are even more rare, and very little data are available in the literature. In this review we summarize the most pertinent findings and recommendations on the treatment of patients with the different subtypes of MODY. Our aim is to provide the reader with an easy-to-read update that can be used to drive the clinician's therapeutical approach to these patients after the molecular diagnosis.