Search results for "Myopathy"

Incidence, determinants and prognostic relevance of dyspnea at admission in patients with Takotsubo syndrome: results from the international multicen…

2020

AbstractClinical presentation of Takotsubo syndrome (TTS) may range from acute chest pain to dyspnea: the prognostic role of clinical onset is still controversial. Aim of this study was therefore to investigate the prognostic relevance of dyspnea at presentation in patients with TTS. We analyzed 1,071 TTS patients (median age 72 years, 90% female) enrolled in the international multicenter GEIST registry. Patients were divided according to the presence or absence of dyspnea at hospital admission, as clinically assessed by the accepting physician. The primary endpoint was occurrence of in-hospital complications defined as a composite of pulmonary edema, cardiogenic shock and death. Overall, 3…

Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

2011

11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204

Adult polyglucosan body myopathy.

1992

This report describes a sporadic late-onset myopathy in two unrelated adults which was marked by polyglucosan inclusions surrounded by abnormally structured mitochondria, the latter finding a localized, possibly reactive phenomenon. The polyglucosan material was characterized by a battery of histochemical and enzyme histochemical techniques; revealed common antigenicity with Lafora bodies, corpora amylacea and muscle fiber inclusions in types IV and VII glycogenoses; and contained ubiquitin. Additional lectin histochemical and associated digestion preparations disclosed the presence of alpha-glycosyl residues as apparently the sole carbohydrate component in polyglucosan bodies while the abo…

Implantation of a biventricular defibrillator in a borderline case of arrhythmogenic right ventricular dysplasia/cardiomyopathy

2014

Takotsubo Cardiomyopathy: One More Angiographic Evidence of Microvascular Dysfunction

2017

Background Takotsubo cardiomyopathy (TC) aetiology has not been completely understood yet. One proposed pathogenic mechanism was coronary microvascular dysfunction (MVD). This study compared coronary flow and myocardial perfusion in patients with TC, microvascular angina (MVA), and a control group (CG). Methods Out of 42 consecutive patients presented to our centre with TC from 2013 to 2017; we retrospectively selected 27 patients. We compared them with a sex- and age-matched group of 27 MVA cases and 27 patients with normal coronary arteries (CG). The flow was evaluated in the three coronary arteries as TIMI flow and TIMI frame count (TFC). Myocardial perfusion was studied with Blush-Score…

The genomic and clinical landscape of fetal akinesia

2020

International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA).Results: We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine novel variants. Our work identified 14 novel disease-gene associations for fetal akinesia: ADSSL1, ASAH1, ASPM, ATP2B3, EARS2, FBLN1, PRG4, PRICKLE1, ROR2, SETBP1…

Noninvasive Imaging Estimation of Myocardial Iron Repletion Following Administration of Intravenous Iron : The Myocardial- Trial

2020

Background Intravenous ferric carboxymaltose ( FCM ) improves symptoms, functional capacity, and quality of life in heart failure and iron deficiency. The mechanisms underlying these effects are not fully understood. The aim of this study was to examine changes in myocardial iron content after FCM administration in patients with heart failure and iron deficiency using cardiac magnetic resonance. Methods and Results Fifty‐three stable heart failure and iron deficiency patients were randomly assigned 1:1 to receive intravenous FCM or placebo in a multicenter, double‐blind study. T2* and T1 mapping cardiac magnetic resonance sequences, noninvasive surrogates of intramyocardial iron, were eval…

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy

1994

Unusual ultrastructural changes of the nerve terminals have been found in an infant born with severe, fatal XLR form of centronuclear myopathy. Aberrant neuromuscular junctions in myotubes decorated by N-CAM were observed. The junction changes were manifested by simplification of postsynaptic membrane and paucity of secondary synaptic clefts. These resembles fetal neuromuscular junctions. The findings suggest that the expression of N-CAM by arrested myotubes may be promoted by abnormal nerve-muscle cell interactions, induced by motor endplate immaturity.

Morphological studies on CLN2

2001

Electron microscopic, fluorescence microscopic, and immunohistochemical studies earlier performed on archivalcerebral tissue from Max Bielchowsky's original three patients revealed curvilinear bodies rich in subunit C of mitochondrial ATP synthase (SCMAS). Recent progress in the elucidation of CLN2, i.e. identification of the defective lysosomal enzyme tripeptidyl-peptidase I (TPP-I) and mutations in the CLN2 gene have further corroborated earlier data. Immunohistochemically the absence of the TPP-I protein could be confirmed in the archival tissues using pathological controls. Unlike biochemistry, immunohistochemistry enables examination of these archival tissues elucidating the causative …

Characteristics and Outcomes of Patients Hospitalized With Suspected Acute Coronary Syndrome in Whom the Diagnosis is not Confirmed

2018

Patients admitted with suspected acute coronary syndrome (ACS) in whom the diagnosis is not confirmed are poorly characterized. In a contemporary registry of consecutive patients hospitalized with suspected ACS as the primary diagnosis, we assessed characteristics on admission and in-hospital and 6-month mortality of patients discharged with other diagnoses and compared this subgroup with true ACS patients. Of 2557 patients included, 9.0% were discharged with a non-ACS diagnosis such as nonspecific chest pain, myopericarditis, stress cardiomyopathy, hemodynamic disturbances, heart failure, myocardial, pulmonary or valvular disease, or others. Compared with true ACS patients, those with othe…