Heath-related quality of life in thyroid cancer patients following radioiodine ablation

<p>Abstract</p> <p>Background</p> <p>There is limited information about the medium to long-term health-related quality of life (QOL) in thyroid cancer patients after initial therapy and the existing studies suffer from limitations. The aim of the study was to assess the determinants of medium-term QOL after the initial therapy.</p> <p>Methods</p> <p>Following a total thyroidectomy, 88 thyroid cancer patients received either rhTSH or hypothyroid-assisted radioiodine ablation (RRA) using 3.7 GBq (100 mCi) of radioiodine. QOL evaluation of the patients using the validated Functional Assessment of Chronic Illness & Therapy (FACIT) was performed at the time of inclusion (t0) and later at the 9-month post-RRA (t1).</p> <p>Results</p> <p>83 patients were eligible for the final evaluation. Medium-term FACIT scores were not statistically different between t0 and t1 patients. All but one domain of the QOL score was similar between t0 and t1. Using a multivariate analysis, only age and immediate postoperative QOL scores were found to be determinants of the overall medium term 9-month QOL scores. Analysis showed that 'high QOL levels' (baseline and 9-month) and 'no depression', 'low anxiety levels', were associated with '<45yrs', 'men', 'partner', and 'rhTSH stimulation'.</p> <p>Conclusions</p> <p>The use of radioiodine ablation does not seem to affect the medium term QOL scores of patients. Medium-term QOL is mainly determined by pre-ablation QOL. The assessment of baseline QOL might be interesting to evaluate in order to adapt the treatment protocols, the preventive strategies, and medical information to patients for potentially improving their outcomes.</p

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the “REGISTRY” cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Contribution de la TEP-TDM au (18F)-FDG dans la prise en charge des vascularites des gros vaisseaux

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocSudocFranceF

Long-term strategies and flexibility of organic farmers in southeastern France

Since the mid-1990s, organic farming has emerged from its marginal and niche production status to become a serious developmental route for more sustainable agriculture befitting current ecological and health challenges. Nonetheless, market fluctuations and changes in the regulatory context combined with technical risks have resulted in the emergence of different points of instability within organic agriculture. On family farms, sustainability is largely guaranteed by a broad range of strategies. Drawing upon a detailed case study of nine organic farms followed up over the course of 14 years, this paper argues that different forms of farm flexibility employed during and since this period have allowed farms to remain viable. It concludes that the diversification of farm production and activities, off-farm employment and farm household commitment to organic agriculture, together with professional membership and social networking, contribute significantly to farm viability. Finally, this paper draws up different farm strategies to support the local development of organic agriculture

Whole-Body 18FDG-PET in an Arthritis Paraneoplastic Syndrome Revealed an Underlying Hematological Neoplasm

We showed the first image of 18FDG-PET, which leads to a diagnosis of lymphoma in an atypical polyarthritis. About 4% of patients with lymphoma or leukemia suffered from rheumatologic paraneoplastic symptoms like arthralgia and about 10% of the patients with rheumatologic or neurologic clinical symptoms develop a solid cancer or hematological neoplasm. 18FDG-PET is an interesting exam to identify an underlying malignancy when a paraneoplastic syndrome is suspected; it can detect the primitive lesion and/or the metastasis lesions. The use of the 18FDG-PET can help to detect earlier hematological neoplasm in cases of paraneoplastic syndrome without a determined cause and to treat more rapidly and specifically the patient

Cognitive and metabolic correlates of emotional vulnerability in patients with temporal lobe epilepsy

International audienceBackground Recent investigations have suggested that the occurrence of epileptic seizures is not completely random. In particular, various types of psychological changes or life events may act as triggering factors. Objective To identify a possible link between self-perception of the impact of affective precipitants, cognitive responses modulated by aversive information and brain metabolic modifications in patients with temporal lobe epilepsy (TLE). Methods The extent to which seizures were elicited or not by emotional precipitants was estimated using a self-reported scale, allowing distinction of two groups: 'Emo-TLE' group (patients reporting to have seizures triggered by emotional events) and 'Other-TLE' group, which were compared with healthy individuals ('control' group). Attentional biases were investigated using the probe detection paradigm, using negative and neutral stimuli. Interictal brain metabolism was studied using FDG-PET, and comparison was made between controls, Emo-TLE and Other-TLE groups. Results Patients with emotional vulnerability (Emo-TLE) disclosed specific attentional biases towards negative stimuli compared with the Other-TLE and control groups. Patients with Emo-TLE also exhibited specific hypometabolism in the anterior temporal lobe, including amygdala and hippocampus. The degree of attentional biases correlated with decreased metabolism in these regions. Conclusions This investigation shows that the impact of affective events is the result of self-perception and also that it might be determined by specific cognitive and brain metabolic modifications in TLE