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24896 search results for:

Primary Myopathy 

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  1. Open Access 18-08-2022 | Diseases of the neuromuscular synapses and muscles | OriginalPaper

    Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

    As defined by an international consortium in 2017 [ 1 ], “primary mitochondrial myopathies (PMM) are genetically defined disorders leading to defects of oxidative phosphorylation affecting predominantly, but not exclusively, skeletal muscle”. In …

  2. 21-07-2022 | Constipation | OriginalPaper

    A Rare Case of Acute on Chronic Intestinal Pseudo-Obstruction Secondary to Primary Visceral Myopathy

    Chronic intestinal pseudo-obstruction (CIPO) is a rare disabling disorder characterized by a severe impairment of gastrointestinal motility, mimicking mechanical obstruction in the absence of any occluding lesion of the gut lumen. The clinical …

  3. Open Access 01-12-2019 | Diseases of the neuromuscular synapses and muscles | OriginalPaper

    Don’t stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility

    Anesthetic management of patients with mitochondrial myopathy (MM) is challenging: the incidence is low, the phenotype and comorbidities are heterogeneous, every organ system may be involved, and evidence based guidelines are lacking [ 1 ]. Recent …

  4. Open Access 01-12-2015 | OriginalPaper

    Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

    The hallmark of all nemaline myopathies (NM), regardless of the genetic defect, is the presence of intrasarcoplasmic rod-like structures called nemaline bodies/rods which are stained red on the modified Gömöri trichrome preparation. This disorder …

  5. 01-07-2005 | OriginalPaper

    Isolated myopathy as the initial manifestation of primary systemic amyloidosis

  6. 01-02-2012 | Letter

    Sporadic late-onset nemaline myopathy in a patient with primary Sjögren’s syndrome

  7. 01-11-2012 | Report

    A case of primary Sjögren’s syndrome complicated with inflammatory myopathy and interstitial lung disease

    We experienced a case of a 63-year-old woman with primary Sjögren’s syndrome (pSS) complicated with inflammatory myopathy and interstitial lung disease (ILD). She had suffered from morning stiffness and dry mouth for 1 year without being medically …

  8. 01-04-2013 | OriginalPaper

    A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

    Kearns–Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome …

  9. Open Access 01-12-2024 | Cardiomyopathy | OriginalPaper

    Unusual cerebral intraventricular hemorrhage and cardiomyopathy related to congenital cytomegalovirus from non-primary maternal infection: a case report

    Human cytomegalovirus (CMV) herpes-virus-5 is the most frequent cause of congenital infection, with a prevalence at birth of 0.64-2% [ 1 ]. Neonatal screening, confirming the diagnosis and investigating for the presence of possible sequelae, is …

  10. 11-07-2022 | Sudden Cardiac Death | ReviewPaper

    Primary Prevention Implantable Cardioverter-Defibrillators in Ischemic Cardiomyopathy

    The benefits of implantable cardioverter-defibrillators (ICD) were widely accepted after the publication of the Antiarrhythmic Versus Implantable Defibrillators study [ 1 ] and the Canadian Implantable Defibrillator Study (CIDS) [ 2 ]. The CIDS …

  11. Open Access 19-05-2022 | Sudden Cardiac Death | ReviewPaper

    Primary prevention implantable cardioverter-defibrillator use in non-ischemic dilated cardiomyopathy based on arrhythmic risk stratification and left ventricular reverse remodeling prediction

    Sudden cardiac death (SCD) and significant ventricular arrhythmias in patients with dilated cardiomyopathy (DCM) have been markedly reduced over the last couple of decades as a result of the advances in pharmacological and non-pharmacological …

  12. Open Access 01-12-2021 | Sudden Cardiac Death | OriginalPaper

    Left intraventricular pressure gradient in hypertrophic cardiomyopathy patients receiving implantable cardioverter-defibrillators for primary prevention

    Hypertrophic cardiomyopathy (HCM) is a common and genetically heterogeneous form of cardiomyopathy characterized by unexplained left ventricular (LV) hypertrophy [ 1 – 3 ]. In general, many patients with HCM have a normal life expectancy, and they …

  13. 01-12-2021 | Cardiomyopathy | Original Research

    Health status measured by Kansas City Cardiomyopathy Questionnaire-12 in primary prevention implantable cardioverter defibrillator patients with heart failure

    An implantable cardioverter defibrillator (ICD) increases survival in those at high risk for sudden cardiac death [ 1 ]. An ICD protects from life-threatening arrhythmias by cardioversion, antitachycardia pacing or bradycardia pacing. In …

  14. 03-07-2021 | Sudden Cardiac Death | OriginalPaper

    The prognostic role of late gadolinium enhancement on cardiac magnetic resonance in patients with nonischemic cardiomyopathy and reduced ejection fraction, implanted with cardioverter defibrillators for primary prevention. A systematic review and meta-analysis

    It is widely accepted that malignant electrical disturbances, such as episodes of ventricular tachycardia (VT) or ventricular fibrillation (VF), play an important role in the mechanism of death among patients with heart failure (HF) and reduced …

  15. 01-09-2022 | Cardiomyopathy | OriginalPaper

    Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants

    Genetically inherited cardiomyopathies represent a heterogeneous group of disorders characterized by structural and/or functional disturbances in the myocardium [ 1 ]. Inherited cardiomyopathies have been described as a known cause of heart …

  16. Open Access 01-12-2024 | Myopathy | OriginalPaper

    Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy

    Anti-mitochondrial antibody (AMA), a specific autoantibody of primary biliary cholangitis (PBC), can also be associated with inflammatory myopathy [ 1 ]. AMA is not considered to be associated with disease severity [ 2 ], and it has not been …

  17. 01-01-2020 | Echocardiography | OriginalPaper

    Left Ventricular Layer-Specific Myocardial Strains in Children with Recovered Primary Dilated Cardiomyopathy: What Lies Beneath the Iceberg?

    We aimed to detect residual cardiac dysfunction—if any—in children with recovered primary dilated cardiomyopathy (DCM) by using the left ventricular (LV) layer-specific myocardial strains. Fifty children with recovered primary DCM both clinically …

  18. 01-01-2020 | Cardiomyopathy | OriginalPaper

    Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing

    Pediatric primary cardiomyopathy is rare but serious, having high mortality; hypertrophic and dilated types are the most common. Its etiology has been mainly considered idiopathic; however, next generation sequencing techniques have revealed …

  19. 28-09-2023 | Fatigue | OriginalPaper

    Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?

  20. Open Access 01-12-2024 | Myopathy | OriginalPaper

    Atypical skin conditions of the neck and back as a dermal manifestation of anti-HMGCR antibody-positive myopathy

    Idiopathic inflammatory myopathies (IIMs) are a rare group of autoimmune diseases that can cause chronic inflammation of skeletal muscle and/or organs, including the skin, joints, lungs, gastrointestinal tract, and heart. Muscle involvement may …

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