0000000000952663

AUTHOR

B Gabriele

showing 6 related works from this author

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

2009

Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.

Malemedicine.medical_specialtyPediatricsDevelopmental DisabilitiesProto-Oncogene MasprematureSettore MED/38 - Pediatria Generale E SpecialisticaCostello syndromePregnancyInternal medicineIntellectual DisabilityGeneticsmedicineHumansHRASGenetics (clinical)FetusPregnancybusiness.industryInfant NewbornNucleic acid amplification techniqueDNASyndromemedicine.diseaseEndocrinologyGenes rasSettore MED/03 - Genetica MedicaFailure to thriveMutation (genetic algorithm)MutationFemalePresentation (obstetrics)medicine.symptombusinessNucleic Acid Amplification TechniquesInfant PrematureAmerican journal of medical genetics. Part A
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Respiratory syncytial virus infection in a Sicilian pediatric population: Risk factors, epidemiology, and severity

2008

Respiratory syncytial virus (RSV) is the leading cause of hospitalization for lower respiratory tract infections (LRTIs) in young children worldwide. This study evaluated the epidemiological and clinical patterns of RSV infection in infants hospitalized for LRTIs in Sicily. Over a 7-month period (October 1, 2005 to April 30, 2006), all children 6 months old, with a gestational age (GA) of >36 weeks, with a birth weight of >2.50 g, with previous hospitalizations due to LRTI, with smokers in the household, and with a history of breast-feeding (p < 0.05 for each). RSV infection was associated with a higher likelihood to be admitted to neonatal intensive care units and to longer hospitalization…

MalePulmonary and Respiratory MedicinePediatricsmedicine.medical_specialtySettore MED/17 - Malattie InfettiveBirth weightRespiratory Syncytial Virus InfectionsTobacco smokeVirusSettore MED/38 - Pediatria Generale E SpecialisticaRisk FactorsIntensive careEpidemiologymedicineHumansBreast-feeding Hospitalization Infants Risk factors RSV infection Severity Trend seasonalImmunology and AllergyRespiratory systemSicilyRespiratory tract infectionsbusiness.industryInfant NewbornInfantGestational ageGeneral MedicineLogistic ModelsRespiratory Syncytial Virus HumanFemalebusinessAllergy and Asthma Proceedings
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Global (pharmacological and non pharmacological) prevention of RSV infection

2012

RSV preventionSettore MED/38 - Pediatria Generale E Specialistica
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FOLLOW-UP DI SVILUPPO NEUROPSICOMOTORIO E CORRELAZIONI CON IL PONDERAL INDEX IN UN CAMPIONE DI NEONATI LATE PRETERM

2015

late preterm, sviluppo neuropsicomotorio, ponderal index

Settore MED/38 - Pediatria Generale E Specialisticalate preterm sviluppo neuropsicomotorio ponderal index
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Malattia polmonare cronica nei neonati VLBW: studio di una casistica 2005-2007

2009

Settore MED/38 - Pediatria Generale E Specialisticaneonato VLBW polmone
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Nuovi film policromatici

2009

film elettrocromici eterocicliSettore CHIM/06 - Chimica Organica
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