Disabilità Intellettiva, riarrangiamenti genomici, ittioli

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

Portal Vein Thrombosis in a Preterm Newborn with Mutation of the MTHFR and PAI-1 Genes and Sepsis by Candida parapsilosis

Objective This report discusses the role of both congenital and acquired risk factors in the pathogenesis of portal vein thrombosis (PVT). Study Design We describe the clinical management and treatment of PVT in a preterm newborn with a homozygous mutation of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) genes and sepsis by Candida parapsilosis. Results Although literature data suggest a minor role of genetic factors in thrombophilia in the case of only one mutation, we hypothesize that combined thrombophilic genetic defects may have a cumulative effect and significantly increase the thrombotic risk. Conclusion It could be appropriate to incl…

QUELLE STRANE CHIAZZE....

WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

Mild twin–twin transfusion syndrome: Clinical report.

Diagnosi precoce di disabilità intellettiva sindromica

delezione 17p11.2, Sindrome di Smith-Magenis, anomalie congenite multiple

Intellectual disabilitiy in developmental age

Intellectual disability (ID) is a neurodevelopmental dis- order characterized by deficits in intellectual and adap- tive functioning that present before 18 years of age [1]. ID is heterogeneous in etiology and encompasses a broad spectrum of functioning, disability, needs and strengths. Originally formulated in strictly psychometric terms as performance greater than 2.5 SDs below the mean on intelligence testing, the conceptualisation of ID has been extended to include defects in adaptive beha- viours [2]. The term-global developmental delay-(GDD) is usually used to describe children younger than 5-years of age who fail to meet expected developmental milestones in multiple areas of intellec…

Dottore, mio figlio non impara a leggere”. I Disturbi Specifici dell’Apprendimento (DSA) e il pediatra di famiglia

Si parla di Disturbo Specifico di Apprendimento (DSA) quando sono presenti delle difficoltà isolate e circoscritte nella lettura (Dislessia) e/o nella scrittura (Disortografia) e/o nel calcolo (Discalculia) nonostante la presenza di adeguate capacità cognitive e opportunità scolastiche. Tali difficoltà hanno carattere evolutivo e persistente, presentandosi con diversa espressività clinica nelle varie fasi dello sviluppo. La prevalenza mondiale del disturbo si attesta tra il 5 e il 15% (DSM 5, 2013). L’incidenza è maggiore nei maschi, con un rapporto M/F stimato intorno a 2:1, 3:1 (DSM 5, 2013). In Italia la stima di prevalenza dei DSA fra i bambini in età scolare oscilla fra il 3 e il 5% (C…