Survival of patients with ANCA-associated vasculitis on chronic dialysis: data from the French REIN registry from 2002 to 2011.

BACKGROUND: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) can lead to end-stage renal disease in patients with renal involvement. OBJECTIVE: This study evaluated the survival of AAV patients on chronic dialysis in France. METHODS: Between 2002 and 2011, a total of 425 AAV patients started chronic dialysis and were registered in the Renal Epidemiology and Information Network. We analysed survival censored for renal transplantation, recovery of renal function and loss to follow-up. AAV patients were compared with 794 matched non-AAV patients on chronic dialysis. RESULTS: A total of 166 (39%) patients with microscopic polyangiitis and 259 (61%) patients with granulomatosis with polyangiitis were registered. Within a median follow-up of 23 months, 58 (14%) patients received a renal allograft and 19 (4%) recovered renal function. Median survival on dialysis was 5.35 years (95% CI, 4.4-6.3) and survival rates at 3 months, 1, 3 and 5 years were 96%, 85%, 68% and 53%, respectively. A total of 143 (41%) patients died after a median of 16 months. Causes of death were cardiovascular (29%), infections (20%), malnutrition (13%), malignancies (4%), AAV relapse (2%), miscellaneous (14%) and unknown (18%). Multivariate logistic regression identified three independent risk factors associated with AAV patients' mortality: age (HR = 1.05/year, P < 0.001), peripheral artery disease (HR = 2.62, P = 0.003) and frailty (HR = 2.43, P < 0.001). Survival of AAV patients did not differ from non-AAV controls, but infectious mortality was higher in AAV patients (20% vs. 8%, P < 0.001). CONCLUSION: Survival of AAV patients in chronic dialysis, although poor, was comparable to survival of non-AAV controls on dialysis. There was a similar burden of cardiovascular mortality, but higher infectious mortality.

Validation of the French 'multidimensional fatigue inventory' (MFI 20).

Fatigue has become an important symptom in research and also for clinical diagnosis and follow up. Many physical illnesses, in particular chronic ones such as cancer, are highly associated with fatigue. Various questionnaires for measuring fatigue have been developed, but currently no validated questionnaire exists in French language. We selected the 'Multidimensional Fatigue Inventory' (MFI) which has been validated in its English version and then translated into French by the designers. This study describes the validation step of the French version of MFI and presents the psychometric properties of this instrument. A sample of 225 patients was divided into three groups 'Tired' (82 subjects), 'Moderately tired' (36) and 'Not tired' (107). The analysis of the structure validity found four dimensions: 'General Fatigue', 'Mental Fatigue', 'Reduced Activities' and 'Motivation'. The convergent validity showed highly significant correlation (P < 0.001) with a visual analogue scale. The French MFI has been able to distinguish patients with different fatigue levels. Cronbach's alpha measurement of the scale and the subscales are good, cronbach alpha > 0.70. The reproducibility and sensitivity to change in patients who were followed up one month later show satisfactory results. This validation study of the French version of MFI shows that this instrument is valid for clinical application and allows different dimensions of fatigue to be assessed which is of particular interest for physicians, especially for cancer carers, where fatigue assessment is an important aspect of the follow up.

[Dependence on psychotropic drugs and substitution treatment: recent trends. The OPPIDUM study of the Centers for Evaluation and Information on Drug Dependence (CEIP), October 1997]. / Dépendance aux psychotropes et traitements de substitution: tendances récentes a propos de l'enquête OPPIDUM des Centres d'Evaluation et d'Information sur les Pharmacodépendances (CEIP) d'octobre 1997.

The aim of this study was to identify the latest trends in psychotropic drug use and the effect of the increase of maintenance treatments for serious opioid addiction. The results are based on data from OPPIDUM, an annual survey primarily concerned with the consumption of licit and illicit drugs. The study involved 1066 drug addicts recruited during the month of October 1997 from 38 French health centres connected with the Centres for Evaluation and Information on Drug Addiction (CEIP). The most frequently reported drugs were benzodiazepines (n = 323), some of which, especially flunitrazepam (Rohypnol, n = 123), are extremely addictive. The data showed a slight decrease in heroin consumption as well as a marked increase in the use of maintenance treatments. The association between benzodiazepines and buprenorphine (Subutex) should consequently be studied, whether buprenorphine is being used illicitly or prescribed as a maintenance treatment.

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in the 15q11-q13 region, but in a few cases it is caused by paternal uniparental disomy (UPD) or an imprinting mutation. The remaining 20 to 30% of AS patients exhibit biparental inheritance and a normal pattern of allelic methylation in the 15q11-q13 region. In this latter group, mutations in the UBE3A gene have recently been shown to be a cause of AS. Here we describe the phenotypic expression in 14 AS cases involving eight UBE3A mutations. These comprise 11 familial cases from five families and three sporadic cases. Subtle differences from the typical phenotype of AS were found. Consistent manifestations were psychomotor delay, a happy disposition, a hyperexcitable personality, EEG abnormalities, and mental retardation with severe speech impairment. The other main manifestations of AS, ataxia, epilepsy, and microcephaly, were either milder or absent in various combinations among the patients. In addition, myoclonus of cortical origin was frequently observed with severe fits inducing myoclonic seizures. The majority of the patients were overweight. This study showed that ataxia, myoclonus, EEG abnormalities, speech impairment, characteristic behavioural phenotype, and abnormal head circumference are attributable to a deficiency in the maternally inherited UBE3A allele. Furthermore, analysis of mutation transmission showed an unexpectedly high rate of somatic mosaicism in normal carriers. These data have important consequences for genetic counselling.

[Evaluation of the quality of life in children and adolescents]. / Evaluation de la qualité de vie chez l'enfant et l'adolescent.

UNLABELLED: HEALTH-RELATED QUALITY OF LIFE: Personal perception of health is proposed as an innovating assessment alternative for making medical and therapeutic choices on an individual and population basis. Standardized questionnaires have been developed to assess health-related quality of life (HRQL). ASSESSMENT OF HRQL IN ADOLESCENTS AND CHILDREN: Several approaches have been used. Some questionnaires assess health status in specific diseases or populations. More general instruments developed for the general population are useful for comparing between programs involving different diseases. PRACTICAL APPLICATIONS: We present here the criteria of quality required for HRQL instruments and examine the difficulties encountered when applying these instruments to children and adolescents. We reviewed the main general instruments in the literature as well as those specifically designed for asthmatic children. None of the self-administered questionnaires available in France are fully satisfactory for children or adolescents in terms of robustness, sensitivity and discriminative power. The French versions of the Childhood Asthma Questionnaire developed in Great Britain and the Paediatric Asthma Quality of Life Questionnaire developed in Canada were tested in a transcultural validation scheme.

[Observation of illicit or misused psychotropic drugs (O.P.P.I.D.U.M.): five years of surveillance of products consumed by drug addicts at Marseille]. / Observation des produits psychotropes illicites ou détournés de leur utilisation médicamenteuse (O.P.P.I.D.U.M.): cinq ans de surveillance des produits consommés par les toxicomanes à Marseille.

The aim of O.P.P.I.D.U.M. is the survey of products used by drug addicts. A five year survey, based on regular pools, has provided interesting results. 1,283 patients (80 per cent men, about 27 years old, 1/4 employed) used 2,241 drugs. The most frequent was heroin, followed by benzodiazepines, cannabis and cocaine. Flunitrazepam was the most commonly misused product, taken by users who started consumption earlier, with a higher rate of unemployment and imprisonment. Cocaine was as often taken intravenously as by sniffing, and most often used before imprisonment. Ecstasy (M.D.M.A.) has appeared recently. Codeine taken alone was used by subjects older than the heroin users, more frequently employed and virtually never prison inmates: this suggests the existence of an unofficial detoxication and substitution process. Confidence of clinicians needs anonymity of the records and return of information. Such a campaign is about to be launched.