Learn More
The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions are caused by different molecular defects resulting in a(More)
IMPORTANCE The important depletion of mitochondrial DNA (mtDNA) and the general depression of mitochondrial respiratory chain complex levels (including complex II) have been confirmed, implying an increasing paucity of mitochondria in the muscle from patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectively). OBJECTIVE(More)
The improper use of pesticide waste containers is a significant risk in rural areas, especially where appropriate systems of draining off refuse are lacking. A case is reported of an eight-year-old child who had played with the abandoned Paraquat container. After contamination with the pesticide she showed several II degree caustic lesions on both thighs(More)
OBJECTIVES Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We(More)
Research into fault diagnosis in machines with a wide range of variable loads and speeds, such as wind turbines, is of great industrial interest. Analysis of the power signals emitted by wind turbines for the diagnosis of mechanical faults in their mechanical transmission chain is insufficient. A successful diagnosis requires the inclusion of accelerometers(More)
A SCADA-data based data mining approach to estimate wind turbine loads Prevalence of, risk factors for, and oxidative stress associated with Toxoplasma gondii antibodies among Egyptian asymptomatic blood donors Content independant metadata production as a machine learning problem Sahar Changuel and Nicolas Labroche
Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depends on the type of disease and on the degree of involvement(More)
OBJECTIVE Duchenne muscular dystrophy (DMD) is a lethal disease. The outcome measures used in numerous therapeutic trials include skeletal muscle biopsy. We studied the natural history of DMD from the standpoint of muscle histology with the aim of providing a reproducible tool for use in evaluating and comparing any histologic changes occurring in patients(More)
This article reviews the adverse effects of exposure to antineoplastic drugs in workers producing or administering them. Many antineoplastic drugs are carcinogenic or mutagenic to humans and exposure and absorption have been shown to occur during production in pharmaceutical industries or during the preparation and administration in veterinary and health(More)