Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.

Background: Diagnosis and treatment of 22q11.2 deletion syndrome (22q11.2DS) have led to improved life expectancy and achievement of adulthood.

The impact of National Containment Measures on a Pediatric Italian regional Hub for COVID-19, an observational study.

Background: Numerous studies described the epidemiological link and main clinical features of pediatric COVID-19, during the first pandemic period. Our study encompasses several different phases since the National Lockdown in Italy. The primary outcome is (I) to analyze the prevalence of positive NST (Nasopharyngeal Swab Test) among the largest Italian Pediatric cohort admitted to a single regional PED Hub for COVID-19 during an eight-month period.

Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.

Background: 22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia.

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Introduction And Hypothesis: Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this genetic condition the dimensions of the pulmonary arteries (PAs) never were specifically evaluated.

Effects of Exercise on Arrhythmia (and Viceversa): Lesson from the Greek Mythology.

Exercise represents an important lifestyle factor in all human ages when felt in harmony with other psycho-physical and environmental variables that affect individual life (e. g. quality of interest, affections, environment, diet and food).

Effects of inhaled hypertonic (7%) saline on lung function test in preschool children with cystic fibrosis: results of a crossover, randomized clinical trial.

Background: This crossover, randomized, double-blind study (conducted over a 32-week period) was performed to determine, in clinically stable Cystic fibrosis (CF) preschool children: the effects of 7% inhaled hypertonic saline on spirometry and interrupter resistance technique (Rint), and the possible side effects.

Methods: Twelve CF children (6M, mean age ± SD: 5.7 ± 0.

Cardiorespiratory fitness and sports activities in children and adolescents with solitary functioning kidney.

Background: An increasing number of children with chronic disease require a complete medical examination to be able to practice physical activity. Particularly children with solitary functioning kidney (SFK) need an accurate functional evaluation to perform sports activities safely. The aim of our study was to evaluate the influence of regular physical activity on the cardiorespiratory function of children with solitary functioning kidney.

Congenital myxoid and pigmented dermatofibrosarcoma protuberans: a case report.

Dermatofibrosarcoma protuberans (DFSP) is a low-grade, mesenchymal, spindle cell tumor. In addition to the classical form characterized by a storiform pattern of tumor cells, pigmented (Bednar's tumor) and myxoid variants can be observed. Classical DFSP and Bednar's tumor are easily diagnosed.