Search results for "PEDIATRIA"
showing 10 items of 692 documents
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…
EVALUATION OF SERUM LEVELS OF ASC FOR THE DIAGNOSIS AND MONITORING OF CRYOPYRIN ASSOCIATED PERIODIC SYNDROMES (CAPS)
2019
Background: Dominantly gain-of-function mutations in the NLRP3 gene lead to Cryopyrin associated periodic syndromes (CAPS) characterized by constitutive activation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. IL-1beta and active caspase-1 subunits are released in the serum together with the oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) after activation of the inflammosome complex and, as a consequence, patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: Patients suffering from CAPS are characterized by clinical manifestation si…
Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)
2019
Introduction: Cryopyrin associated periodic syndromes (CAPS) are rare autoinflammatory disorders associated with dominantly gain-offunction mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. It has been reported that oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) are released together with IL-1beta and active caspase-1 subunits after activation of the inflammosome complex and that patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: The diagnosis of CAPS is a critical factor due…
CASO CLINICO: CARCINOMA TIROIDEO ASSOCIATO A IPERTIROIDISMO IN ETÀ PEDIATRICA: UNA RARA ASSOCIAZIONE
2019
PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA R, 8 anni, sesso femminile. Nulla di rilevante all’anamnesi fisiologica e patologica remota. Bimba in sovrappeso (BMI 24,65 Kg/m2). Familiarità per neoplasia tiroidea (zia materna), tiroidite di Hashimoto e per neoplasie di altri organi. Un mese prima, tonsillite essudativa trattata con terapia antibiotica; simultaneamente comparsa di tumefazione laterocervicale dx non dolente; insorgenza di dolore e progressivo incremento del volume della tumefazione per veniva condotta in PS; all’EO: aspetto non sofferente, tumefazione laterocervicale di consistenza parenchimatosa dura, mobile nei piani sopra e sottostanti; linfoadenopatie multiple i…