0000000000023003

AUTHOR

Steven B. Karch

showing 4 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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A possible biomarker for methadone related deaths

2017

Abstract Methadone (MTH) concentrations in those dying of MTH toxicity totally overlap concentrations where the presence of MTH is only an incidental finding, making it very difficult to make distinctions in actual cases. A biomarker, be it anatomical or biochemical for MTH toxicity is badly needed, particularly if that markers were known to disrupt effective ventilation. Because the brainstem houses the regulatory centers for cardiorespiratory-control enters, it would seem to be the most likely anatomical site to seek abnormalities in cardiorespiratory control. Objective To locate and describe the cells of nucleus of the solitary tract (TS)(NTS) in human brainstem and determine if neuronal…

MalePathologyNecrosisApoptosisAutopsyCohort Studies0302 clinical medicineRetrospective StudieMedicineForensic PathologyNeuronsPoisoningSolitary tractGeneral MedicineRostral ventrolateral medullaNecrosiImmunohistochemistryCaspase 9Narcotic030220 oncology & carcinogenesisToxicityFemaleBrainstemmedicine.symptomBrainstemCaspase-9HumanNarcoticsAdultProgrammed cell deathmedicine.medical_specialty2734Pathology and Forensic MedicineNecrosisForensic ToxicologyYoung Adult03 medical and health sciencesSettore MED/43 - Medicina LegaleSolitary NucleuSolitary NucleusNeurotoxicityHumansRetrospective Studiesbusiness.industryfungiApoptosiBiomarkerNeuronApoptosisApoptosis; Biomarker; Brainstem; Caspase-9; Methadone; Neurotoxicity; Adult; Apoptosis; Brain Stem; Caspase 9; Cohort Studies; Female; Forensic Pathology; Forensic Toxicology; Humans; Immunohistochemistry; Male; Methadone; Narcotics; Necrosis; Neurons; Poisoning; Retrospective Studies; Solitary Nucleus; Young Adult; 2734; LawCohort StudiebusinessLawMethadone030217 neurology & neurosurgeryBrain Stem
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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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Perioperative and anesthetic deaths: toxicological and medico legal aspects

2019

Abstract Background Anesthesia has become safer during decades, though there is still a preventable mortality; the complexity of medical and surgical interventions, increasingly older and sicker patients, has created a host of new hazards in anesthesiology. In this paper, some of these perioperative (PO) fatal adverse events are investigated in terms of health responsibility. Selective literature research in several data bases, concerning perioperative and anesthetic deaths and medical responsibility, was performed. Main text A generally accepted definition of the anesthesia and perioperatory-related death still remains one of the major concerns in forensic pathology, and the terms “operati…

Forensic pathologymedicine.medical_specialtyHealth (social science)ResponsibilityEpidemiologymedicine.medical_treatmentErrorsCausal chain01 natural sciencesPathology and Forensic MedicineErrorMedico-legal03 medical and health sciences0302 clinical medicineAnesthesiologyMalpracticeEpidemiologymedicinelcsh:Law in general. Comparative and uniform law. JurisprudenceAnesthesia030216 legal & forensic medicineIntensive care medicineAdverse effectlcsh:R5-920business.industryMortality rate010401 analytical chemistryDrugsPerioperative0104 chemical scienceslcsh:K1-7720Airway managementSurgeryFatalitieDrugbusinesslcsh:Medicine (General)LawFatalities
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