Search results for " Specialist"

Copy number variations in the etiology of autism spectrum disorders

2013

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, t…

Anti-IL1 in patients with low penetrance mutations for autoinflammatory diseases: tuscany and sicilian case series from paediatric to adult age

2017

Patients with low penetrance mutations for Autoinflammatory syndromes (AID) can have severe clinical manifestations, which require to be treated with biological drugs anti-IL-1. Objectives: To evaluate the response of AID to treatment with the recombinant human IL-1 receptor antagonist anakinra or with the anti-IL-1b.

Auxological Pattern, BMI and Endocrine Follow Up in Children with Congenital Hypothiroidism: the Data of thePediatric Clinic of Palermo

2014

Miositi dell'età pediatrica: Analisi di una casistica biennale.

2015

ENDOCRINE PROFILE, BMD EVALUATION, ESTROPROGESTINIC TREATMENT IN THE FOLLOW UP OF GIRLS WITH CONGENITAL COAGULOPATHIES

2011

Rilievi clinici su 139 bambini adottati dall’estero

2006

Studio multicentrico italiano sui problemi scolastici del bambino immigrato.

2006

Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up

2013

We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up. This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.

Bmi and Auxological Follow Up in Children with Hashimoto Thyroiditis: Utility of a Phisical Activity Program

2014

Effects of thalassemia major on bone mineral density in late adolescence

2003

Management of thalassemia major has shown substantial clinical and prognostic improvement, suggesting the need for major attention to quality of life. We studied bone health in 25 patients (13 males, 12 females; 15-23 years old) affected by β-thalassemia major. In all patients, bone mineral density (BMD), biochemical markers of bone and calcium metabolism (calcium, phosphate, magnesium, alkaline phosphatase, urinary calcium, 25-hydroxyvitamin D [25OH-D], 1,25-dihydroxyvitamin D [1,25(OH)2,D], parathyroid hormone [PTH]), hematological parameters and gonadal steroids status were assessed and related to each other and to auxological parameters (chronological, statural and bone ages, height, we…