Search results for " Specialist"
showing 10 items of 770 documents
CASO CLINICO: triplicazione del gene SHOX in un paziente con disgenesia gonadica mista e mosaicismo 46,X,i(Y)(p10)[94]/45,X[13]
2021
PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA Descriviamo il caso di un bambino di 2.5 anni con bassa statura, altezza 84cm (-2DS), SPAN 82.5cm, peso 10 kg (-2.5DS). Nato SGA (EG:40.5), con p.c.: 2480 g (-2.44DS), lunghezza: 47cm (-1.64DS), c.c.: 33 cm (-1.84DS).Stadio PH1G1, volume testicolare: 2 ml con genitali esterni normo-conformati. Era stato sottoposto ad amniocentesi, con diagnosi prenatale di disgenesia gonadica mista associata a cariotipo a mosaico 45,X[25]/46,X,i(Y)[18]. IPOTESI DIAGNOSTICHE • deficit accrescitivo in nato SGA • bassa statura da SHOX-D • ritardo della crescita costituzionale o secondario a malassorbimento INDAGINI DI I E II LIVELLO Per la ridotta velocit…
Gestione clinica dei pazienti con trisomia a lunga sopravvivenza
2010
Combined therapy with insulin and rGH in thirteen Italian patients with type 1 diabetes (T1DM) and growth disorders.
2012
Background: Combined GH and insulin therapy are rarely prescribed in pediatric pts because the association of GHD and T1DM is rare and maybe for the difficulties in managing a double therapy with opposite effects on glucose metabolism. Objective and hypotheses: To investigate on the attitude of pediatric endo-diabetologists in treating these pts. Methods: Data were collected from over 50 centres belonging to the ISPED. The inclusion criterion was based on the double therapy for at least 6 months with insulin due to T1DM, and rGH, due to growth impairment. Results: Most centres stated that the use of combined therapy was considered uncomfortable and frequently avoided, whereas 10 centres rep…
UN CASE REPORT DI UVEITE E NEFRITE TUBULO-INTERSTIZIALE POST-COVID
2021
Auxological, metabolic and endocrine follow-up in patients treated with valproic acid
2010
Development of a new S/MAR containing Minicircle DNA vector: a new promise for Gene Therapy.
2009
A barrier limiting the use of nonviral vectors for gene therapy is related to the short duration of transgene expression in vivo. Development, evaluation, and optimisation of a long term transgene expression using a non viral vector is currently the primary aim in our research field. Recently, we have demonstrate that a nonviral episomal plasmid (pDNA) vector combined with a scaffold/matrix attachment region (S/MAR) is able to sustain long-term expression in murine liver for at least six months following hydrodynamic injection. However, plasmids contain sequences, which are essential for propagation in bacteria but are unnecessary for expression in mammalian cells. These bacterial component…
Un lessico settoriale estinto: la lingua solfaresca nelle scritture
2019
Le voci di questo lessico di fine Ottocento, ormai spento negli usi concreti e persino dei ricordi degli ultimi zolfarai, è rinvenibile – relativamente ai testi scritti – nelle raccolte folkloriche di canti di miniera, nelle testimonianze diaristiche di tre donne straniere (Chapman, Hamilton-Caico; White Mario), in testi socio-economici, nei registri e verbali tecnici, in qualche testo letterario (Pier Maria Rosso di San Secondo, Luigi Pirandello, Alessio Di Giovanni, Giuseppe Giusti Sinopoli, Andrea Camilleri, Angelo Petix). Nell'articolo ci si concentra sul trattamento fonetico e morfologico di alcune voci, a partire dalle diverse tipologie di testo. In particolare sulle voci carusu (tras…
Sindrome da duplicazione 1q21: variabile penetranza ed espressività clinica intrafamiliare di un riarrangimento genomico di circa 6 Mb non precedente…
2016
Sindrome da duplicazione 1q21, riarrangimento genomico
Impact of Distressing Media Imagery on Children
2016
Children are particularly fragile and vulnerable to the impact of traumatic events or their mediated representation because they lack the skills and experience in the management of difficult information. Children have different concepts of health and disaster than adults and institutions, depending mainly on their cognitive, emotional, social, psychological, and physical development. If left alone with threatening messages, children are less able to fully understand the information to which they had been exposed. Therefore, they may fail to integrate the external data into their psychological schema of coping strategies. Children usually count on caregivers to deal with stressors, and they …