Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.

Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs.

Waist circumference a clinical criterion for prediction of cardio-vascular complications in children and adolescences with overweight and obesity.

Overweight and obesity in childhood are associated with early cardiovascular dysfunction and promote heightened risk of cardiovascular morbidity and mortality in adulthood. Waist circumference (WC) correlates with visceral obesity, which is why obese children with elevated WC need to be carefully monitored to prevent long-term cardio-metabolic complications. The purpose of our study was to establish if WC could be a predictor of cardiovascular complications in children.

[Psychogenic pain in children].

Children present many relations between psychic and somatic processes. The most important clinical aspect is the pain that cannot be attributed to any medical condition and occurs in at least one organ. Psychogenic pain is frequent in the pediatric population and its incidence is increasing.

[Pulmonary manifestations in childhood obesity].

Obesity has an increasing incidence throughout the world, inducing a complex and multisystemic pathology. The respiratory manifestations are: restrictive respiratory physiology, reduced respiratory compliance, altered ventilation/perfusion index, bronchial hyperresponsiveness. Increases in body mass index (BMI) are associated with increases in prevalence, incidence and severity of bronchial asthma.

[Clinical and developmental aspects of cardiac involvement in infant of diabetic mother].

The authors evaluated the main clinical and evolutive aspects of heart involvement in the newborn of diabetic mother (IDM). We studied the files of 35 IDM in a 4 years period; they were investigated the first week of life and at 6-12 months (18 cases). Most of the patients were asymptomatic/signs of extracardiac suffering; 15 had a systolic murmur.