0000000000010189

AUTHOR

G. Moceri

showing 8 related works from this author

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

2016

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…

MalePathologymedicine.medical_specialtyCandida parapsilosis030204 cardiovascular system & hematologyBioinformaticsCandida parapsilosisThrombophiliaSepsisPathogenesis03 medical and health sciences0302 clinical medicineSepsis030225 pediatricsPlasminogen Activator Inhibitor 1medicineHumansMethylenetetrahydrofolate Reductase (NADPH2)Venous ThrombosisPolymorphism GeneticbiologyPortal Veinbusiness.industryCandidiasisInfant NewbornAnticoagulantsFactor VObstetrics and Gynecologyportal thrombosis fungal infection gene polymorphismmedicine.diseasebiology.organism_classificationPortal vein thrombosisSurgical Procedures OperativeMethylenetetrahydrofolate reductaseMutationPediatrics Perinatology and Child Healthbiology.proteinGene polymorphismbusinessPlasminogen activatorAmerican Journal of Perinatology
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Mild twin–twin transfusion syndrome: Clinical report.

2008

Pediatricsmedicine.medical_specialtyClinical reportbusiness.industryPediatrics Perinatology and Child HealthTransfusion twinsmedicineObstetrics and GynecologybusinessTwin Twin Transfusion Syndrome
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Intellectual disabilitiy in developmental age

2015

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…

medicine.medical_specialtyeducation.field_of_studybusiness.industryIntellectual disability neurodevelopmental disorders global developmental delayPopulationGeneticistmedicine.diseaseSettore MED/38 - Pediatria Generale E SpecialisticaBorderline intellectual functioningNeurodevelopmental disorderSettore MED/03 - Genetica MedicaMeeting AbstractIntellectual disabilityDevelopmental MilestonemedicineAutismMedical historyPsychiatryeducationbusinessItalian Journal of Pediatrics
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Disabilità Intellettiva, riarrangiamenti genomici, ittioli

2015

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaIttiosi disabilità intellettiva riarrangiamenti genomici
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QUELLE STRANE CHIAZZE....

2015

Settore MED/38 - Pediatria Generale E SpecialisticaMucinosi follicolare mucinosi cutanea dell'infanzia muco- polisaccaridi GAGs
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WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

2015

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

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica Medica15q13.3 microduplication syndrome genomic rearrangment gentotype-phenotype correlation
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Diagnosi precoce di disabilità intellettiva sindromica

2015

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

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica Medicadelezione 17p11.2 Sindrome di Smith-Magenis anomalie congenite multiple
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Dottore, mio figlio non impara a leggere”. I Disturbi Specifici dell’Apprendimento (DSA) e il pediatra di famiglia

2015

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…

Disturbi Specifici dell’Apprendimento DSA screening precoce questionari osservativiSettore MED/38 - Pediatria Generale E Specialistica
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