Search results for "Myopathies"
showing 10 items of 85 documents
Intranuclear nemaline rod myopathy
2006
The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis. Muscle Nerve, 2006
Identification of intermediate-risk patients with acute symptomatic pulmonary embolism
2014
The identification of normotensive patients with acute pulmonary embolism (PE) at high risk of adverse PE-related clinical events (i.e. intermediate-risk group) is a major challenge. We combined individual patient data from six studies involving 2874 normotensive patients with PE. We developed a prognostic model for intermediate-risk PE based on the clinical presentation and the assessment of right ventricular dysfunction and myocardial injury. We used a composite of PE-related death, haemodynamic collapse or recurrent PE within 30 days of follow-up as the main outcome measure. The primary outcome occurred in 198 (6.9%) patients. Predictors of complications included systolic blood pressure …
Anticoagulant drugs in noncompaction: A mandatory therapy?
2008
BACKGROUND: Noncompaction of left ventricular myocardium is a rare congenital cardiomyopathy resulting from an incomplete myocardial morphogenesis that leads to the persistence of the embryonic myocardium. This condition is characterized by a thin compacted epicardial and an extremely thickened endocardial layer with prominent trabeculations and deep intertrabecular recesses. It is not clear, in noncompaction of myocardium, whether intertrabecular recesses could be responsible for thrombi formation and thromboembolic complications. METHODS: The prevalence of stroke and echocardiographic finding of thrombus was evaluated in a continuous series of 229 patients (men and women) affected by nonc…
Acute impact of an endurance race on cardiac function and biomarkers of myocardial injury in triathletes with and without myocardial fibrosis.
2019
Aims The aim of this study was to investigate the occurrence of myocardial injury and cardiac dysfunction after an endurance race by biomarkers and cardiac magnetic resonance in triathletes with and without myocardial fibrosis. Methods and results Thirty asymptomatic male triathletes (45 ± 10 years) with over 10 training hours per week and 55 ± 8 ml/kg per minute maximal oxygen uptake during exercise testing were studied before (baseline) and 2.4 ± 1.1 hours post-race. Baseline cardiac magnetic resonance included cine, T1/T2, late gadolinium enhancement (LGE) and extracellular volume imaging. Post-race non-contrast cardiac magnetic resonance included cine and T1/T2 mapping. Non-ischaemic my…
Carotid endarterectomy in heart transplant patients
2005
AIM: The aim of this study was to determine the clinical outcome of carotid endarterectomy in heart transplant recipients and morphologic features of atherosclerotic plaques removed during operation. METHODS: Between April 1993 and October 2001 5 heart transplant patients with symptomatic carotid stenosis >70% underwent carotid endarterectomy with regional anesthesia, including a staged bilateral procedure in one patient. Cholesterol, triglycerides, HDL-cholesterol, LDL-cholesterol were evaluated in each patient. The plaques ( n=6) underwent histologic analysis after carotid endarterectomy. Carotid artery duplex imaging was added to the routine postoperative evaluation. RESULTS: Carotid pla…
Long-term LVEF trajectories in patients with type 2 diabetes and heart failure: diabetic cardiomyopathy may underlie functional decline
2020
Abstract Background Left ventricular ejection fraction (LVEF) trajectories and functional recovery with current heart failure (HF) management is increasingly recognized. Type 2 diabetes mellitus (T2D) leads to a worse prognosis in HF patients. However, it is unknown whether T2D interferes with LVEF trajectories. The aim of this study was to prospectively assess very long-term (up to 15 years) LVEF trajectories in patients with and without T2D and underlying HF. Methods Ambulatory patients admitted to a multidisciplinary HF clinic were prospectively evaluated by scheduled two-dimensional echocardiography at baseline, 1 year, and then every 2 years afterwards, up to 15 years. Statistical anal…
Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy
2004
Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin. This article reports a case of a man with a mutation in the desmin gene suffering from cardiomyopathy and skeletal myopathy. This patient underwent implantable cardioverter defibrillator (ICD) implantation for prognostic considerations and subsequently developed a sustained ventricular tachycardia (SVT). While nonsustained VTs (NSVT) have previously been reported, this is the first time that a SVT could be seen in a patient with this disease.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder
1994
3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. We present a further patient who presented with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency and increased plasma long-chain acylcarnitines. 3-Hydroxydicarboxylic aciduria was present and the diagnosis confirmed in cultured skin fibroblasts. Our patient is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and possible therapeutic regimens.
Neuromuscular Adaptations to Low-Frequency Stimulation Training in a Patient with Chronic Heart Failure
2008
Electrical myostimulation (EMS) has recently been proposed as an interesting rehabilitation tool in patients with chronic heart failure (CHF). Although its beneficial effects on exercise capacity and muscle strength have been demonstrated, the neuromuscular adaptations responsible for improved performance are not well understood. This preliminary case report was therefore planned to investigate the neural and muscular adaptations to a 5-wk EMS program in one patient. An increase in maximal strength (10.5%) was accompanied by increased twitch torque (13.9%) and slowing of muscle contractile properties (half-relaxation time, time to peak torque, and maximal rate of relaxation increased by 7.1…
Protein surplus myopathies and other rare congenital myopathies.
2002
The protein surplus myopathies have emerged as a newly recognized subgroup of morphologically defined myopathies within the spectrum of congenital myopathies because of the accumulation of protein aggregates, some of them mutant proteins. Currently, nosologic, including molecular criteria include desmin-related myopathies, actinopathies, and hereditary inclusion body myopathies, whereas hyaline body myopathy is still a putative form of protein surplus myopathy because of lack of any molecular data. The congenital myopathies (CM), foremost including nemaline and myotubular myopathies, have given evidence that, despite their epidemiologic rarity, the molecular age has dawned in CM and has eve…