0000000000164568

AUTHOR

Margherita Neri

0000-0002-6459-1669

showing 5 related works from this author

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

2008

The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type V…

MalePathologymedicine.medical_specialtyNav1.5 protein functionv1.5 protein functionmedia_common.quotation_subject2734Nonsense mutationNonsenseNa+ channel functionMuscle ProteinsSocio-culturaleBiology+Nav1.5 protein function; Na+ channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutation; Codon Nonsense; Diseases in Twins; Humans; Infant; Male; Muscle Proteins; NAV1.5 Voltage-Gated Sodium Channel; Sodium Channels; Sudden Infant Death; 2734Sudden deathSodium ChannelsNAV1.5 Voltage-Gated Sodium ChannelPathology and Forensic MedicinePathogenesisSCN5A gene mutationDiseases in TwinsmedicineHumansSimultaneous sudden infant death syndromeSCN5A gene mutationW822X mutationNa+ channel functionNav1.5 protein functionNaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein function CodonMolecular BiologyCellular localizationmedia_commonSimultaneous sudden infant death syndromeSettore BIO/16 - Anatomia UmanaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein functionW822X mutationInfantCell BiologyGeneral MedicineSudden infant death syndromeNonsenseTerminal deoxynucleotidyl transferaseCodon NonsenseImmunohistochemistryNa; v; 1.5 protein function; Na; +; channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutationchannel functionSudden Infant Death
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Sudden cardiac death due to anomalous origin of the right coronary artery: A case report in a child

2006

medicine.medical_specialtyVascular diseasebusiness.industrySocio-culturaleContraction band necrosisAnomalous origin right coronary arterymedicine.diseaseSudden deathCoronary heart diseaseSudden cardiac deathSurgerySudden cardiac deathAnomalous origin right coronary artery; Contraction band necrosis; Sudden cardiac death; Coronary Vessel Anomalies; Death Sudden Cardiac; Fatal Outcome; Humans; Infant; Male; Myocardium; Necrosis; Sinus of Valsalva; Cardiology and Cardiovascular MedicineRight coronary arterymedicine.arteryInternal medicineCirculatory systemmedicineCardiologyCongenital diseaseSudden cardiac death; Anomalous origin right coronary artery; Contraction band necrosisCardiology and Cardiovascular MedicinebusinessContraction band necrosisInternational Journal of Cardiology
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Erratum to “Inhaler mishandling remains common in real life and is associated with reduced disease control” [Respir Med 105 (6) 2011 930–938]

2012

Pulmonary and Respiratory Medicinemedicine.medical_specialtybusiness.industryInhalerPhysical therapymedicineIn real lifebusinessIntensive care medicineDisease controlRespiratory Medicine
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Immunohistochemical marker for Na+ CP type Vα (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphyl…

2009

A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed…

MaleChannellopathies; Confocal laser scanning microscopy; Immunohistochemistry; Na+ CP type Vα (C-20); Sodium channel; Sudden cardiac death; W822X; Adult; Anaphylaxis; Brugada Syndrome; Fatal Outcome; Humans; Male; Muscle Proteins; Myocardium; Myocytes Cardiac; NAV1.5 Voltage-Gated Sodium Channel; Peanut Hypersensitivity; Sodium Channels; Death Sudden Cardiac; Mutation Missense; 2734; Medical Laboratory Technology; HistologyMuscle Proteinsmedicine.disease_causeSodium ChannelsSudden cardiac deathNAV1.5 Voltage-Gated Sodium ChannelNa+ CP type V[alpha] (C-20)Fatal OutcomeMissense mutationMyocytes CardiacConfocal laser scanning microscopyCP type Vα (C-20)Cellular localizationBrugada syndromeBrugada SyndromeMutationChemistrySodium channelChannellopathiesImmunohistochemistryChannellopathies; Confocal laser scanning microscopy; Immunohistochemistry; Na; +; CP type Vα (C-20); Sodium channel; Sudden cardiac death; W822XDeathMedical Laboratory TechnologyCardiologyCardiacAdultmedicine.medical_specialtyHistologyNa+ CP type V[alpha] (C-20) confocal laser scanning microscopy immunohistochemistry sodium channel channellopathies W822X sudden cardiac deathNonsense mutation2734Mutation MissenseSocio-culturaleNa+ CP type Vα (C-20)+Sudden deathPathology and Forensic MedicineInternal medicinemedicineHumansPeanut HypersensitivityNacardiovascular diseasesW822XAnaphylaxisMyocytesSodium channelMyocardiummedicine.diseaseMolecular biologySuddenSudden cardiac deathDeath Sudden CardiacMutationMissenseNa+ CP type V[alpha] (C-20); confocal laser scanning microscopy; immunohistochemistry; sodium channel; channellopathies; W822X; sudden cardiac death
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Time Required to Rectify Inhaler Errors Among Experienced Subjects With Faulty Technique

2017

BACKGROUND: Regardless of the device used, many patients have difficulty maintaining proper inhaler technique over time. Repeated education from caregivers is required to ensure persistence of correct inhaler technique, but no information is available to evaluate the time required to rectify inhaler errors in experienced users with a baseline faulty technique and whether this time of re-education to restore inhaler mastery can differ between devices. METHODS: This was a multicenter, single-visit, open-label, cross-sectional study in a large group of 981 adult subjects (mean ± SD age 64 ± 15 y) experienced with inhaler use, mainly suffering from COPD and asthma, who showed faulty inhaler tec…

MalePulmonary and Respiratory MedicineChronic Obstructivemedicine.medical_specialtyTime FactorsTime FactorCross-sectional studyasthma; COPD; inhaler device; Aged; Asthma; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Patient Education as Topic; Pulmonary Disease Chronic Obstructive; Dry Powder Inhalers; Metered Dose Inhalers; Time Factors; Medicine (all)Settore MED/10 - Malattie Dell'Apparato RespiratorioCritical Care and Intensive Care MedicinePulmonary DiseasePulmonary Disease Chronic Obstructive03 medical and health sciences0302 clinical medicinePatient Education as TopicCOPDHumansMedicineMetered Dose Inhalers030212 general & internal medicineAgedAsthmaCross-Sectional StudieCOPDbusiness.industryMedicine (all)InhalerDry Powder InhalersGeneral MedicineMiddle Agedmedicine.diseaseAsthmaDry Powder InhalerCross-Sectional StudiesMetered Dose Inhaler030228 respiratory systemPhysical therapyinhaler deviceFemalebusinessLarge groupHumanRespiratory Care
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