Search results for " Brugada"

showing 5 items of 5 documents

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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Brugada phenocopy in diabetic ketoacidosis, the importance of the diagnostic approach

2020

Abstract Brugada phenocopies (BrP) are clinical entities that present with identical ECG patterns to those of true Brugada Syndrome (BrS) but are elicited by various other clinical circumstances. Our manuscript shows an interesting case of a type-1 Class A BrP in a young patient with diabetic ketoacidosis and hyperkalemia.

Phenocopycongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyHyperkalemiaDiabetic ketoacidosisbusiness.industry030204 cardiovascular system & hematologymedicine.disease03 medical and health sciences0302 clinical medicineBrugada phenocopy Brugada syndrome Diabetic ketoacidosis Differential diagnosis Hyperkalemia Treatment030225 pediatricsInternal medicinePediatrics Perinatology and Child HealthCardiologyMedicinecardiovascular diseasesmedicine.symptomCardiology and Cardiovascular MedicinebusinessBrugada syndrome
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Measles and Brugada pattern: A case report

2013

No abstract available

medicine.medical_specialtyMeasles Brugadabusiness.industrymedicine.diseaseMeaslesSettore MED/11 - Malattie Dell'Apparato CardiovascolareSudden cardiac deathInternal medicineBrugada patternmedicineCardiologyCardiology and Cardiovascular MedicinebusinessBrugada syndrome
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Morbillo e fenomeno di Brugada: un caso clinico

2011

morbillo brugada
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Wolff-Parkinson-White syndrome associated with Brugada syndrome.

2009

wolff-parkinson-white brugada
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