Search results for "MYOPATHY"

showing 10 items of 352 documents

The role of histamine in doxorubicin and teniposide-induced cardiotoxicity in dog and mouse.

1987

In previous studies we reported that teniposide (VM26) induced acute cardiac effects in dogs seem to be related to a release of histamine and that a prior treatment with chlorpheniramine, an H, histamine blocker, prevents the onset of this phenomenon. Since histamine and other vasoactive substances also seem to be involved in doxorubicin (DXR)-induced acute cardiac effects, experiments were undertaken in the aim to prevent, as in the case of VM26, the onset of this phenomenon by administering chlorpheniramine. Since DXR-induced chronic cardiomyopathy also seems to be related to the same mechanisms involved in the onset of acute cardiac effects induced by this drug, additional studies were …

DrugMaleCancer ResearchChlorpheniraminedoxorubicincardiotoxicity.media_common.quotation_subjectCardiomyopathyPharmacology030218 nuclear medicine & medical imaging03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineDogsVasoactiveMedicineAnimalsDoxorubicinmedia_commonPodophyllotoxinTeniposideCardiotoxicitybusiness.industryMyocardiumHeartGeneral Medicinemedicine.diseaseOncologychemistryDoxorubicin030220 oncology & carcinogenesisInotropismFemalebusinessHistamineTeniposidemedicine.drugHistamineTumori
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An overview of statin-induced myopathy and perspectives for the future

2020

Introduction: Statins remain the most commonly prescribed lipid-lowering drug class for the treatment of atherosclerotic cardiovascular disease. Their well-recognized side effects are known as statin-associated muscle symptom (SAMS). Some advances in this field have been made in recent years, but the understanding of the mechanisms has lagged. Investigating the specific role of the anti-HMGCR autoantibody, pharmacokinetic genetic variants, characterization of the known phenotypes of statin toxicity, in relation to clinical markers of disease, is of high importance. Areas covered: We summarized currently available findings (on PubMed) related to SAMS and discussed the therapeutic approaches,…

DrugStatinUbiquinonemedicine.drug_classmedia_common.quotation_subjectHyperlipidemiasDiseasetherapeutic approaches030204 cardiovascular system & hematologyBioinformaticsPharmacogenomic Variants03 medical and health sciences0302 clinical medicineMuscular DiseasesRisk FactorsmedicineAnimalsHumansDrug InteractionsPharmacology (medical)Adverse effectHypolipidemic Agentsmedia_commondrug interactionbusiness.industryGeneral MedicineAtherosclerosisStatin induced myopathystatin-induced myopathyunderlying mechanismDrug classrisk factor030220 oncology & carcinogenesisCoenzyme Q10Hydroxymethylglutaryl-CoA Reductase Inhibitorsmyositis autoantibodieRisk assessmentbusinessstatin-associated muscle symptom
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Drug-related cardiotoxicity for the treatment of haematological malignancies in elderly.

2010

Several publications have focused on the cardiotoxicity of specific classes of haematological therapeutic agents such as antracyclines and cyclofosfamide. Cardiotoxicity of cancer chemotherapeutics is a problem for patients of all ages, but it increases with age. Toxicity can also be developed months after the last chemotherapy dose, and late reactions can be seen years later when they present new-onset cardiomyopathy. No data are available about the cardiotoxicity of non-chemotherapy agents currently used as preferred therapy for haematological malignancy in elderly. In this review we have provided a summary of the cardiovascular toxic effects produced by different drugs and therapeutic ag…

Drugmedicine.medical_specialtyHeart diseaseHeart Diseasesmedicine.medical_treatmentmedia_common.quotation_subjectCardiomyopathyAntineoplastic AgentsPharmacologyCardiotoxinsDrug Delivery SystemsDrug DiscoverymedicineAnimalsHumansIntensive care medicinedrug cardiotoxicity haematological malignanciesmedia_commonAgedPharmacologyCardiotoxicityChemotherapybusiness.industryAge FactorsCancerImatinibmedicine.diseaseHematologic NeoplasmsRituximabbusinessmedicine.drugCurrent pharmaceutical design
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RNA sequencing-based transcriptome profiling of cardiac tissue Implicados novela putative disease mechanisms in FLNC-associated arrhythmogenic cardio…

2020

Arrhythmogenic cardiomyopathy (ACM) encompasses a group of inherited cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC) whose molecular disease mechanism is associated with dysregulation of the canonical WNT signalling pathway. Recent evidence indicates that ARVC and ACM caused by pathogenic variants in the FLNC gene encoding filamin C, a major cardiac structural protein, may have different molecular mechanisms of pathogenesis. We sought to identify dysregulated biological pathways in FLNC-associated ACM. RNA was extracted from seven paraffin-embedded left ventricular tissue samples from deceased ACM patients carrying FLNC variants and sequenced. Transcript le…

FilaminsDNA Mutational Analysis030204 cardiovascular system & hematologyGene mutationFilaminArticleTranscriptome03 medical and health sciences0302 clinical medicineHumansMedicineGenetic Predisposition to Disease030212 general & internal medicineJAM2FLNCGeneArrhythmogenic Right Ventricular Dysplasiabusiness.industryGene Expression ProfilingDNAArrhythmogenic cardiomyopathy Filamin C Focal adhesion pathway Integrin linked kinase pathway RNA sequencingActin cytoskeletonPatologiaCell biologyPhenotypeMutationCardiology and Cardiovascular MedicinebusinessMYL7
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G-protein-coupled receptor kinase 5 polymorphism and Takotsubo cardiomyopathy.

2015

BACKGROUND: Takotsubo cardiomyopathy (TTC) is an increasingly reported clinical syndrome that mimics acute myocardial infarction without obstructive coronary artery disease and is characterized by transient systolic dysfunction of the apical and/or mid-segments of the left ventricle. The syndrome mainly occurs in postmenopausal women with high adrenergic state conditions. Nowadays, the pathophysiology of TTC is not yet known and the possibility of a genetic predisposition is controversial. AIMS: The purpose of this study was to assess the genetic susceptibility to TTC through analysis of the L41Q polymorphism of the G-protein-coupled receptor kinase 5 (GRK5). METHODS AND RESULTS: In a cohor…

G-Protein-Coupled Receptor Kinase 5Malemedicine.medical_specialtyCardiomyopathyInfarctionCohort StudiesGene FrequencyG-Protein-Coupled Receptor Kinase 5Takotsubo CardiomyopathyInternal medicineGenotypemedicineGenetic predispositionHumansSettore MED/05 - Patologia ClinicaGenetic Predisposition to Diseasecardiovascular diseasesgenotype G-protein-coupled receptor kinase 5 gene polymorphism Takotsubo cardiomyopathyAgedPolymorphism Geneticbusiness.industryCase-control studyGeneral MedicineMiddle Agedmedicine.diseaseSettore MED/11 - Malattie Dell'Apparato Cardiovascolaremedicine.anatomical_structureVentricleCase-Control StudiesCardiologyFemaleCardiology and Cardiovascular MedicinebusinessCohort study
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Role of Cardiac Magnetic Resonance Imaging in the Detection of Cardiac Amyloidosis

2010

Objectives Our aim was to evaluate the role and mechanism of late gadolinium enhancement (LGE) cardiac magnetic resonance (CMR) in identifying cardiac amyloidosis (CA) and to investigate associations between LGE and clinical, morphologic, functional, and biochemical features. Background CA can be challenging to diagnose by echocardiography. Recent studies have demonstrated an emerging role for LGE-CMR. Methods LGE-CMR was performed in 120 patients with amyloidosis. Cardiac histology was available in 35 patients. The remaining 85 patients were divided into those with and without echocardiographic evidence of CA. Results Of the 35 patients with histologically verified CA, abnormal LGE was pre…

Gadolinium DTPAMalemedicine.medical_specialtyPathologymedicine.drug_classBiopsyCardiomyopathyContrast MediaMagnetic Resonance Imaging CineSeverity of Illness IndexElectrocardiographyCardiac magnetic resonance imagingPredictive Value of TestsInternal medicineBiopsymedicineNatriuretic peptideHumansRadiology Nuclear Medicine and imagingcardiovascular diseasesAgedRetrospective StudiesUltrasonographyObserver VariationChi-Square Distributionmedicine.diagnostic_testbusiness.industryAmyloidosisMyocardiumReproducibility of ResultsMagnetic resonance imagingAmyloidosisMiddle Agedmedicine.diseasePrognosisSettore MED/11 - Malattie Dell'Apparato CardiovascolareMAGNETIC RESONANCE CARDIAC AMYLOIDOSIS.Early DiagnosisCardiac amyloidosisRadiology Nuclear Medicine and imagingembryonic structurescardiovascular systemCardiologyFemalebusinessCardiomyopathiesCardiology and Cardiovascular MedicineElectrocardiographyBiomarkersJACC: Cardiovascular Imaging
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Akt induces enhanced myocardial contractility and cell size in vivo in transgenic mice

2002

The serine-threonine kinase Akt seems to be central in mediating stimuli from different classes of receptors. In fact, both IGF-1 and IL6-like cytokines induce hypertrophic and antiapoptotic signals in cardiomyocytes through PI3K-dependent Akt activation. More recently, it was shown that Akt is involved also in the hypertrophic and antiapoptotic effects of β-adrenergic stimulation. Thus, to determine the effects of Akt on cardiac function in vivo, we generated a model of cardiac-specific Akt overexpression in mice. Transgenic mice were generated by using the E40K, constitutively active mutant of Akt linked to the rat α-myosin heavy chain promoter. The effects of cardiac-selective Akt overex…

Gene ExpressionTransgenicGlycogen Synthase Kinase 3MiceGSK-3Receptorsgenetics/physiologycytology/metabolismMultidisciplinaryBiological SciencesProtein-Serine-Threonine KinasesDNA-Binding Proteinsenzymology/genetics/pathologyAdrenergicPhosphorylationSignal transductionMitogen-Activated Protein KinasesSignal Transductionmedicine.medical_specialtyCardiomyopathyAnimals; Calcium-Calmodulin-Dependent Protein Kinases; metabolism; Cardiomyopathy; Hypertrophic; enzymology/genetics/pathology; Cell Size; physiology; DNA-Binding Proteins; GATA4 Transcription Factor; Gene Expression; Glycogen Synthase Kinase 3; Mice; Transgenic; Mitogen-Activated Protein Kinases; Myocardial Contraction; Myocardium; cytology/metabolism; Point Mutation; Protein-Serine-Threonine Kinases; Proto-Oncogene Proteins c-akt; Proto-Oncogene Proteins; genetics/physiology; Rats; Receptors; Adrenergic; beta; Signal Transduction; Transcription FactorsMice TransgenicBiologyProtein Serine-Threonine KinasesContractilityIn vivoInternal medicineProto-Oncogene ProteinsReceptors Adrenergic betamedicineAnimalsPoint MutationGlycogen synthaseProtein kinase BPI3K/AKT/mTOR pathwayCell SizeMyocardiumCardiomyopathy HypertrophicMyocardial ContractionGATA4 Transcription FactorRatsEndocrinologyHypertrophicphysiologyCalcium-Calmodulin-Dependent Protein Kinasesbiology.proteinbetametabolismProto-Oncogene Proteins c-aktTranscription Factors
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Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

2002

Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the nebulin gene we have detected a number of autosomal recessive mutations. Both autosomal dominant and recessive mutations have been detected in the genes for alpha -actin and alpha -tropomyosin 3. A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta -tropomyosin 2 gene. Screening 66 unrelated patients, using single strand conformation polymor…

Genetic MarkersMaleGenetic LinkageProtein ConformationBiopsyMolecular Sequence DataMutation MissenseTropomyosinmacromolecular substancesMuscle disorderMyopathies NemalineTPM203 medical and health sciencesNebulin0302 clinical medicineNemaline myopathymedicineAnimalsHumansAmino Acid SequenceMuscle SkeletalNemaline bodiesPolymorphism Single-Stranded ConformationalGenetics (clinical)DNA Primers030304 developmental biologyGenetics0303 health sciencesSequence Homology Amino AcidbiologyReverse Transcriptase Polymerase Chain Reactionmusculoskeletal systemmedicine.diseaseMolecular biologyTropomyosinCongenital myopathyPedigree3. Good healthHaplotypesNeurologyMutationPediatrics Perinatology and Child Healthbiology.proteinFemaleNeurology (clinical)Sequence Alignment030217 neurology & neurosurgeryCentral core diseaseNeuromuscular Disorders
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Ultrastructural myopathology in the molecular era.

2013

Electron microscopy is an essential component of myopathology, both in diagnostics and research of neuromuscular diseases. Although recently reduced in the diagnostic armamentarium, it has greatly been expanded to mouse models in research. Mostly it is descriptive, but a few additional techniques in combination with transmission electron microscopy have been employed. Foremost among them is immunoelectron microscopy, which assists in guiding molecular analysis in hereditary conditions, but may be vital in diagnostics of certain acquired entities, e.g., undulating tubules in dermatomyositis and in those congenital myopathies where genes and mutations remain to be identified, as in cylindrica…

Genetic MarkersPathologymedicine.medical_specialtyImmunoelectron microscopyBiologyPathology and Forensic MedicineMiceMicroscopy Electron TransmissionMuscular DiseasesStructural BiologymedicineAnimalsHumansGenetic Predisposition to DiseaseMyopathyMicroscopy ImmunoelectronMuscle SkeletalHexagonal crystal systemDermatomyositismedicine.diseaseCongenital myopathyMolecular analysisDisease Models AnimalPhenotypeMolecular Diagnostic TechniquesUltrastructuremedicine.symptomUltrastructural pathology
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Chronic inflammatory cardiomyopathy of interferon γ-overexpressing transgenic mice is mediated by tumor necrosis factor-α.

2011

We recently described a model of inflammatory cardiomyopathy in interferon (IFN)-γ overexpressing transgenic mice stably circulating IFN-γ in the serum referred to as SAP–-IFN-γ mice. SAP–IFN-γ transgenic mice show cardiac infiltration by mononuclear leukocytes, culminating in dilated cardiomyopathy characterized by an increase of left ventricular end diastolic diameter and reduction of fractional shortening. We hypothesized that the pathological mechanism underlying SAP–IFN-γ cardiomyopathy might be mediated by (auto)immune processes or tumor necrosis factor (TNF)-α synthesis from IFN-γ–activated macrophages. To verify these hypotheses, we crossed SAP–IFN-γ transgenic mice with immunodefic…

Genetically modified mouseMalemedicine.medical_specialtyMyocarditisTransgeneCardiomyopathyApoptosisAutoimmunityMice TransgenicKaplan-Meier EstimateBiologyAdaptive ImmunityPathology and Forensic MedicineHepatitisInterferon-gammaMiceImmune systemInterferonInternal medicinemedicineAnimalsGene SilencingTumor Necrosis Factor-alphaMacrophagesAlanine Transaminasemedicine.diseaseMyocarditisEndocrinologyPhenotypeEchocardiographyKnockout mouseChronic DiseaseCytokinesTumor necrosis factor alphaFemalemedicine.drugThe American journal of pathology
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