0000000000350097

AUTHOR

M. R. Averna

showing 3 related works from this author

Gastrointestinal symptoms in infancy: A population-based prospective study

2005

Abstract Background. During the first months of life, infants can suffer from many ‘minor’ gastroenterological disturbances. However, little is known about the frequency of these problems and the factors which predispose or facilitate their onset. Aims. (a) To ascertain the frequency of the most common gastrointestinal symptoms in infants during the first 6 months after birth; (b) to evaluate the influence of some variables on the onset of the symptoms. Study design and patients. Each of the 150 paediatricians distributed throughout Italy followed 20 consecutive infants from birth to 6 months. 2879 infants (1422 f, 1457 m) concluded the study. The presence of the following symptoms was eval…

AdultMalecolic; constipation; diarrhoea; epidemiology; failure to thrive; feeding; infancy; regurgitation; vomitingPediatricsmedicine.medical_specialtyInfancySettore MED/09 - Medicina InternaConstipationColicEpidemiologyVomitingGestational AgemedicineHumansProspective StudiesProspective cohort studyHepatologybusiness.industryCryingFeedingInfant NewbornGastroenterologyInfantGestational ageFailure to thriveRegurgitationInfant Low Birth WeightInfant FormulaDiarrhoeaHospitalizationLow birth weightDiarrheaBreast FeedingItalyDiarrhea InfantileFailure to thriveGastroesophageal RefluxVomitingFemalemedicine.symptombusinessConstipationFollow-Up StudiesDigestive and Liver Disease
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

0301 basic medicinePediatricsPathologySettore MED/09 - Medicina Interna[SDV]Life Sciences [q-bio]Familial hypercholesterolemiaDisease030204 cardiovascular system & hematologyGeneTHERAPY0302 clinical medicineFamilialRisk FactorsHyperchylomicronemiaAlipogene tiparvovecRegistriesFAMILIAL HYPERCHOLESTEROLEMIAmedia_commonHypertriglyceridemiaPrognosis3. Good healthNatural historySystematic reviewPhenotypeDISEASESSAFETYHyperlipoproteinemia Type ICardiology and Cardiovascular Medicinemedicine.medical_specialtyAPHERESISRegistryFamilial chylomicronemia syndromeGENIALLLysosomal acid lipase deficiencyLipid Metabolism Inborn Errors03 medical and health sciencesLipoprotein lipase deficiencyRare DiseasesGene therapychylomicronemia syndromemedicinemedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseEuropean unionLipoprotein lipase deficiency (LPLD)business.industryALIPOGENE TIPARVOVEC AAV1-LPLS447Xmedicine.diseaseAlipogene tiparvovecLipoprotein Lipase030104 developmental biologyOrphan diseasebusiness
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Distribution of risk factors, plasma lipids, lipoproteins and dyslipidemias in a small Mediterranean island: The Ustica Project

2003

Background and Aim: The populations of the Mediterranean area have a low incidence of cardiovascular disease (CHD). The aims of this paper are: 1) to present demographic data of the population of Ustica, a small island in the southern part of the Tyrrhenian sea that has reduced communications with the mainland and a diet presumably rich in fish; and 2) to evaluate the distribution of risk fa tors, plasma lipids, lipoproteins and dyslipidemias in this population. Methods and Results: We invited all of the free-living resident population aged more than 14 years (about 800 individuals) to participate in the study; 57 responded, for a participation rate of about 73%. The distribution of cardiov…

AdultAged 80 and overMalerisk factors lipids dyslipidemia Mediterranean populationAdolescentLipoproteinsAge FactorsHyperlipidemiasMiddle AgedDiet MediterraneanLipidsLipoproteins LDLMediterranean IslandsItalyCardiovascular DiseasesRisk FactorsHumansFemaleObesityLipoproteins HDLAged
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