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Mitochondrial dysfunction might play a central role in the pathogenesis of nonalcoholic steatohepatitis (NASH). The aims of this study were to evaluate whether free fatty acid (FFA) transport into the mitochondria or the activity of mitochondria respiratory chain (MRC) complexes are impaired in NASH. In patients with NASH and control subjects, we measured(More)
We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle morphology showed myopathic changes such as moth-eaten fibers,(More)
OBJECTIVE This study reports acute exercise responses in a large (N = 46) series of patients with McArdle disease and responses to exercise training in a smaller (n = 9) set of patients. DESIGN Patients were studied during both incremental and steady-state cycle ergometer exercise, using cardiopulmonary testing, and the patients were compared with age-(More)
OBJECTIVE To identify the cause of an adult-onset multisystemic disease with multiple deletions of mitochondrial DNA (mtDNA). DESIGN Case report. SETTING University hospitals. PATIENT A 65-year-old man with axonal sensorimotor peripheral neuropathy, ptosis, ophthalmoparesis, diabetes mellitus, exercise intolerance, steatohepatopathy, depression,(More)
The purpose of this study was to assess if there exists an association between C34T muscle adenosine monophosphate deaminase ( AMPD1) genotypes (i.e., normal homyzygotes [CC] vs. heterozygotes [ CT]) and directly measured indices of exercise capacity (peak oxygen uptake [VO(2peak)], ventilatory threshold [VT], gross mechanical efficiency [GE], etc.) in 44(More)
The cannabinoid receptor-1 (CNR-1) and endogenous agonists of this receptor are present in the central and peripheral nervous systems including the gastrointestinal nervous system. The surgically rejected specimens of human colorectal cancers and paired normal tissues were studied to detect mutations in the CNR1 gene by sequencing method. The results were(More)
The phenotypic manifestation of McArdle disease varies considerably from one individual to the next. The purpose of this study was to assess the possible association between the clinical severity of the disease, and each of the genotypes PYGM (R50X), ACE (I/D), AMPD1 (Q12X), PPARGC1A (G482S) and ACTN3 (R577X). We also assessed links between clinical disease(More)
McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. The aims of this study were to characterize genetically a large series of patients and to establish a protocol of molecular diagnosis on blood samples. We studied 55 Spanish unrelated patients with McArdle disease.(More)
We performed a genetic analysis of the Cu/Zn superoxide dismutase gene (SOD1) in Spanish patients with sporadic or familial amyotrophic lateral sclerosis (ALS). We found mutations in 2 of 11 families (18%) with ALS. In addition, 1 of the 87 sporadic ALS patients studied harbored a mutation in the same gene. We identified G37R in exon 2 of the SOD1 gene in 1(More)
This paper presents an autonomous mission architecture for locating and tracking of harmful ocean debris with unmanned aerial vehicles (UAVs). Mission simulations are presented that are based on actual weather data, predicted icing conditions, and estimated UAV performance degradation due to ice accumulation. Sun position is estimated to orient search and(More)