A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy.

We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, II+III, and IV deficiency ranging from 60% to 95% associated with morphological and histochemical abnormalities of the muscle. An exhaustive screening of mitochondrial transfer and ribosomal RNAs showed a novel G>A substitution at nucleotide position 3090 which was detected only in urine sediment and muscle of the patient and was not found in her mother's blood cells and urine sample. We suggest that this novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, would impair mitochondrial protein synthesis and would cause a severe myopathy.

[Optimizing history taking for evaluating the risk of venous thromboembolism: the OPTIMEV study]. / Optimisation de l'interrogatoire dans l'évaluation du risque de maladie thromboembolique veineuse: l'étude OPTIMEV.

UNLABELLED: Venous thromboembolism (VTE) is a frequent disease and remains a major cause of mortality and morbidity among our patients. During the 20 past years, clinical description, diagnostic tools, and treatment have changed dramatically. Most published data describing risk factors for VTE no longer apply to the patients seen in daily practice. We present here the rationale, aims, and methodology of the OPTIMEV Study (OPTimisation de l'Interrogatoire pour la Maladie thromboEmbolique Veineuse). RATIONALE: Risk factors for VTE are numerous, complex and interactions between them and their clinical importance is difficult to measure (table I). For example, odds ratios for VTE recurrence vary greatly across longitudinal studies. We searched the National Library of Medecine (PubMed) and the Amedeo website using the following keywords: "venous thromboembolism", "pulmonary embolism", "deep vein thrombosis", "risk factors". We selected 84 relevant articles published between 1972 and 2005. Based on this literature analysis, we identified the following major risk factors: VTE recurrence, surgery, cancer, immobilization, age, biological factors. For these factors, data are lacking and some questions are proposed. OBJECTIVES: The broad objective of the study is to better evaluate clinical risk factors that fit today's practice against VTE. Specific aims are: 1) to determine whether risk factors are different between proximal and distal deep vein thrombosis (DVT); 2) to develop and prospectively validate a new prediction rule for outpatients. The primary hypothesis is that careful assessment of VTE recurrence, adequate surgical thromboprophylaxis, cancer staging, and varicose vein stratification according to the CEAP classification, is mandatory for accurate evaluation of thromboembolic disease risk. METHODS: We conducted a multicenter, prospective, cohort study of 10000 patients. Enrollees are inpatients and outpatients presenting with a clinical suspicion of VTE in Emergency Departments and outpatient clinics in France. 4173 patients have been enrolled at this time (Figure 2). All eligible patients are enrolled during a selected period of time through different seasons. Data are collected by physicians in charge of the patients using an electronic case recording form. Collected data include baseline characteristics, risk factors, results of diagnostic investigations. Outcome measures obtained through telephone interview at 3 and 12 months include cancer diagnosis, VTE recurrence, haemorrhagic events, treatments, death. Univariate and multivariate analysis will be performed using multilevel logistic regression. The study organization is performed by the Centre d'Investigation Clinique de Grenoble and is sponsored by the French Society of Vascular Medicine. First results, to be published in 2006, will allow development of new prediction rules for VTE diagnosis.

[Treatment of functional signs of acute maxillary rhinosinusitis in adults. Efficacy and tolerance of administration of oral prednisone for 3 days]. / Traitement des signes fonctionnels des rhinosinusites maxillaires aiguës de l'adulte. Efficacité et tolérance de la prednisone administrée par voie orale pendant 3 jours.

OBJECTIVE: Acute maxillary rhinosinusitis (AMRS) is a pathology in which the pain is often severe and requires appropriate treatment. Although the use of antibiotics is widely documented, the interest of short cycles of corticosteroids in the treatment of the functional manifestations of AMRS is based on professional experience. The aim of this study was to assess the efficacy and tolerance to prednisone administered for 3 days in addition to antibiotherapy in patients presenting with an AMRS. METHOD: This was a double blind, randomised study in parallel groups and controlled versus a placebo, involving patients aged over 18, presenting with an AMRS confirmed by X-ray and endoscopy, having developed less than 5 days and complaining of spontaneous pain assessed as >or=50 millimetres on a visual analog scale (VAS). Together with cefpodoxime, the patients received either prednisone (0.8 to 1.2 mg/kg) for 3 days or a placebo. The primary efficacy endpoint was the mean of the differences versus the baseline value of pain (MPID - mean pain intensity difference) assessed on the VAS from Day 1 to Day 3. The secondary endpoints assessed were the mean of the differences in intensity of nasal obstruction, assessed in the same way as the MPID, the time lapse before the orally expressed relief of the pain (PRID - pain reflief intensity difference) and the administration of paracetamol during the first 3 days. RESULTS: 289 patients (placebo 147, prednisone 142) were assessable for analysis in intent-to-treat (ITT). The global spontaneous pain on inclusion, measured by a VAS was of 73.0 +/- 14.1 mm. The assessments made during the first 3 days of treatment showed a statistically significant difference in favour of the prednisone group regarding MPID: - 4.82 mm (CI 95% -9.25; -0.40) (p=0.03), nasal obstruction - 5.0 mm (CI 95% -9.1; -0.8) (p=0.02) and consumption of paracetamol (p=0.03). There was no difference between the two groups after the end of the antibiotherapy. The tolerance measured throughout the study was comparable between the two groups. CONCLUSION: This study clearly showed the efficacy of a short course of oral prednisone (3 days), versus a placebo, in the treatment of the functional signs of acute maxillary rhinosinusitis with severe pain in adults in addition to an appropriate antibiotic treatment.

Evaluation of the hygienic performances of the processes for beef carcass dressing at 10 packing plants.

The hygienic performances of the carcass dressing processes at 10 beef packing plants were assessed from small sets of microbiological data. For each process, a single sample was obtained from a randomly selected site on each of 25 randomly selected beef sides leaving the process. In addition, during a period of about a year, a further nine such sets of samples were obtained from each of two of those processes. The aerobic bacteria, coliforms and Escherichia coli recovered from each sample were enumerated. For each set of 25 counts, values for the mean log and standard deviation were calculated on the assumption that the log values were normally distributed, and the log of the arithmetic mean was estimated for each set from the mean log and the standard deviation. The processes were ranked with respect to the log mean numbers of E. coli, coliforms and total counts estimated for the products. Log mean numbers of E. coli, coliforms and total counts ranged from about 2 to < 100 cm-2, from about 3 to < 100 cm-2, and from about 5 to about 2 cm-2, respectively. For one of the processes, 8, 7, and 8 of the log mean values for the replicated sets of aerobic, coliform and E. coli counts, respectively, differed by < 1 log unit. For the other process 5, 7, and 9 of the log mean values for the replicated sets of aerobic, coliform and E. coli counts, respectively, differed by < 1 log unit. These results indicate that the first process was generally consistent in the contamination of carcasses with aerobes, coliforms and E. coli. The contamination of carcasses in the second process with coliforms and E. coli was also generally consistent, but contamination of those carcasses with aerobes was inconsistent. The findings suggest that beef carcass dressing processes can be operated consistently with respect to the bacterial contamination of carcasses, and that log mean numbers of 1 +/- 0.5 to 100 cm-2, 1 +/- 0.5 to 100 cm-2 and 3 +/- 0.5 cm-2 for E. coli, coliform and total counts, respectively, may be appropriate, commercially attainable acceptance criteria for the hygienic performance of beef carcass dressing processes.