Analyse des phénomènes de Raynaud sclérodermiques (étude rétrospective entre 1995 et 2007 au CHU de Nantes)

Une étude rétrospective sur 12 ans a analysé les caractéristiques des phénomènes de Raynaud (PR) vus en consultation de Médecine Vasculaire. Les PR associés aux sclérodermies ont été isolés et étudiés. Ces PR présentent des atypies clinique et paraclinique particulières. Lorsque ces patients présentent des réactivités digitales au froid syncopales (type V), les PR sont encore plus sévères et atypiques et les atteintes viscérales sclérodermiques sont plus fréquentes. Une fiche initiale et de suivi prospectif vasculaire est proposée pour tous les patients sclérodermiques. La pléthysmographie digitale, en complément de la capillaroscopie, permettrait chez ces patients de définir un groupe à risque d évolution viscérale. Dans une population de PR non sclérodermique, la pléthysmographie permettrait d isoler un groupe de maladie de Raynaud suspecte présclérodermique dont le suivi prospectif serait à réaliser par la suite.NANTES-BU Médecine pharmacie (441092101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Waist Circumference Adds to the Variance in Plasma C-Reactive Protein Levels in Elderly Patients with Metabolic Syndrome.

Background: C-reactive protein (CRP), a nonspecific marker of the inflammatory status, is associated with cardiovascular disease risk factors and may be an important feature of the metabolic syndrome (MSX) in middle-aged subjects. Objectives: We assessed the relationship of CRP levels to specific components of MSX and other potential determinants in apparently healthy elderly subjects living in the South of France. Methods: In the framework of the population-based POLA (Pathologies Oculaires Li? ?'Age) Study, performed in 2,404 subjects aged 60 years or more, we measured the plasma CRP levels. All subjects with known systemic inflammatory diseases, such as chronic bronchitis, cardiovascular disease, and diabetes, and those who were on systemic steroid therapy as well as subjects with CRP levels >10 mg/l were excluded from the study, leaving 1,709 subjects for the statistical analyses. MSX was defined according to NCEP (National Cholesterol Education Program) criteria. Other potential determinants were assessed through interviewer-based questionnaire. Results: We grouped the subjects into three categories based on the 75th and 25th percentiles, corresponding to 3.05 and 0.82, respectively. We compared subjects in the highest quartile, i.e., with CRP >/=3.05 mg/l, with those in the two intermediate quartiles, i.e., with 0.82 < CRP < 3.05, and those in the lowest quartile, i.e., with CRP <0.82 mg/l according to gender. MSX, which had a prevalence of 31%, was significantly associated with elevated CRP levels. Among MSX components, the strongest positive association with the highest quartile of CRP was with waist circumference in males as well as in females (age-adjusted odds ratio OR 3.06 and 95% confidence interval CI 1.82-5.14; OR 7.04 and 95% CI 4.79-10.34, respectively). Each component of the MSX, such as abnormal fasting plasma glucose (OR 2.90, 95% CI 1.69-4.99), triglycerides (OR 1.96, 95% CI 1.30-2.96), high-density lipoprotein cholesterol (OR 2.31, 95% CI 1.61-3.30), and blood pressure (OR 1.66, 95% CI 1.12-2.45), was significantly associated with high CRP values in elderly women only. In men, only current smoking was significantly associated with high CRP levels (OR 1.52, 95% CI 1.04-2.2). In multivariate analysis, the waist circumference remained significantly associated with high CRP levels, with a graded effect of CRP quartile whatever the gender. In men, current and former smoking remained significantly associated with the CRP levels. In women, the association observed in univariate analysis with fasting glucose or hypertension did not reach statistical significance in the multivariate analysis, while only a weak association could be observed with lipid parameters such as triglycerides and high-density lipoprotein cholesterol. Conclusions: Abdominal adiposity adds to the variance in plasma CRP levels in elderly patients with MSX. This suggests that weight loss or other interventions targeted at adipocyte-related inflammation may represent an important means to prevent subclinical inflammation in the elderly, bearing a high risk of cardiovascular disease. Copyright (c) 2007 S. Karger AG, Basel

Wheat Panache: A pangenome graph database representing presence–absence variation across sixteen bread wheat genomes

Bread wheat (Triticum aestivum L.) is one of humanity's most important staple crops, characterized by a large and complex genome with a high level of gene presence-absence variation (PAV) between cultivars, hampering genomic approaches for crop improvement. With the growing global population and the increasing impact of climate change on crop yield, there is an urgent need to apply genomic approaches to accelerate wheat breeding. With recent advances in DNA sequencing technology, a growing number of high-quality reference genomes are becoming available, reflecting the genetic content of a diverse range of cultivars. However, information on the presence or absence of genomic regions has been hard to visualize and interrogate because of the size of these genomes and the lack of suitable bioinformatics tools. To address this limitation, we have produced a wheat pangenome graph maintained within an online database to facilitate interrogation and comparison of wheat cultivar genomes. The database allows users to visualize regions of the pangenome to assess PAV between bread wheat genomes

Wheat Panache: A pangenome graph database representing presence–absence variation across sixteen bread wheat genome

Bread wheat (Triticum aestivum L.) is one of humanity's most important staple crops, characterized by a large and complex genome with a high level of gene presence–absence variation (PAV) between cultivars, hampering genomic approaches for crop improvement. With the growing global population and the increasing impact of climate change on crop yield, there is an urgent need to apply genomic approaches to accelerate wheat breeding. With recent advances in DNA sequencing technology, a growing number of high-quality reference genomes are becoming available, reflecting the genetic content of a diverse range of cultivars. However, information on the presence or absence of genomic regions has been hard to visualize and interrogate because of the size of these genomes and the lack of suitable bioinformatics tools. To address this limitation, we have produced a wheat pangenome graph maintained within an online database to facilitate interrogation and comparison of wheat cultivar genomes. The database allows users to visualize regions of the pangenome to assess PAV between bread wheat genomes

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.

International audienceChronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and so cannot generate superoxide anions (O(2) (-)). The most common form is caused by mutations in CYBB encoding gp91 phox, the heavy chain of flavocytochrome b(558) (XCGD). We investigated 11 male patients and their families suspected of suffering from X-linked CGD. These XCGD patients were classified as having different variants (X91(0), X91(-) or X91(+)) according to their cytochrome b(558) expression and NADPH oxidase activity. Nine patients had X91(0) CGD, one had X91(-) CGD and one had X91(+) CGD. Six mutations in CYBB were novel. Of the four new X91(0) CGD cases, three were point mutations: G65A in exon 2, G387T in exon 5 and G970T in exon 9, leading to premature stop codons at positions Try18, Try125 and Glu320, respectively, in gp91 phox. One case of X91(0) CGD originated from a new 1005G deletion detected in exon 9. Surprisingly, four nonsense mutations in exon 5 led to the generation of two mRNAs, one with a normal size containing the mutation and the other in which exon 5 had been spliced. A novel X91(-) CGD case with low gp91 phox expression was diagnosed. It was caused by an 11-bp deletion in the linking region between exon 12 and intron 12, activating a new cryptic site. Finally, a new X91(+) CGD case was detected, characterized by a missense mutation Leu505Arg in the potential NADPH-binding site of gp91 phox. No clear correlation between the severity of the clinical symptoms and the sub-type of XCGD could be established

Perceived HIV‐related physical fatigue, sociodemographic characteristics and physical activity: A cross‐sectional study

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Emergence of Lyme Disease on the French Riviera, a Retrospective Survey

International audienceBackground The French Riviera has been declared free of Lyme Borreliosis (LB) for years. Many patients are referred for presumed LB, sometimes with atypical clinical signs and/or doubtful serology, calling the diagnosis into question. Methods Patients were assessed for LB diagnosis, depending on clinical presentation, laboratory findings, and further examination by other medical professionals. Results Among 255 patients, 45 (18%) were classified as confirmed LB cases [including 28 ongoing LB (10%) and 17 past LB (8%)], and for 210 (82%) a Lyme borreliosis diagnosis was ruled out. Among ongoing LB, 56% had been exposed to or bitten by ticks, exclusively in rural locations of the Alpes-Maritimes. As a result of the diagnostic procedure, 132 (52%) patients had been treated. An alternative diagnosis was established for 134 (52%) patients, covering a wide range of conditions, including mainly psychological (28%) and neurological conditions (25%) or inflammatory and systemic diseases (22%). Conclusions Our results strongly suggest the endemicity of LB in the Alpes-Maritimes region. Confirmed LB accounted for 18% of patients while 52% were diagnosed with other conditions

The Ottawa Score Performs Poorly to Identify Cancer Patients at High Risk of Recurrent Venous Thromboembolism: Insights from the TROPIQUE Study and Updated Meta-Analysis

International audienceThe Ottawa score (OS) for predicting the risk of recurrent venous thromboembolism (VTE) in cancer patients with VTE may help to guide anticoagulant treatment decisions that will optimize benefit-risk ratios. However, data on its reliability are conflicting. We applied the OS to all cancer patients with VTE enrolled in the prospective multicenter TROPIQUE study who received low-molecular-weight heparin over a 6-month period. Of 409 patients, 171 (41.8%) had a high-risk OS. The 6-month cumulative incidence of recurrent VTE was 7.8% (95%CI 4.2–14.8) in the high-risk OS group versus 4.8% (95%CI 2.6–8.9) in the low-risk OS group (SHR 1.47; 95%CI 0.24–8.55). The Area Under the Receiver Operating Characteristic curve (AUROC) of the OS in identifying patients who developed recurrent VTE was 0.53 (95%CI 0.38–0.65), and its accuracy was 57.9%. Among individual variables included in the OS, only prior VTE was significantly associated with the 6-month risk of recurrent VTE (SHR 4.39; 95% CI 1.13–17.04). When pooling data from all studies evaluating this score for predicting VTE recurrence in cancer patients (7 studies, 3413 patients), the OS estimated pooled AUROC was 0.59 (95%CI 0.56–0.62), and its accuracy was 55.7%. The present findings do not support the use of the OS to assess the risk of recurrent VTE in cancer patients

Comparison of idiopathic (isolated) aortitis and giant cell arteritis-related aortitis. A French retrospective multicenter study of 117 patients

International audienceObjectives: The aim of the study was to compare clinical/imaging findings and outcome in patients with idiopathic (isolated aortitis, IA) and with giant cell arteritis (GCA)-related aortitis.Methods: Patients from 11 French internal medicine departments were retrospectively included. Aortitis was defined by aortic wall thickening &gt; 2 mm and/or an aortic aneurysm on CT-scan, associated to inflammatory syndrome. Patients with GCA had at least 3 ACR criteria. Aortic events (aneurysm, dissection, aortic surgeries) were reported, and free of aortic events-survival were compared.Results: Among 191 patients with non-infectious aortitis, 73 with GCA and 44 with IA were included. Patients with IA were younger (65 vs 70y, p = 0.003) and comprised more past/current smokers (43 vs 15%, p = 0.0007). Aortic aneurisms were more frequent (38% vs 20%, p = 0.03) and aortic wall thickening was more pronounced in IA. During follow-up (median = 34 months), subsequent development of aortic aneurysm was significantly lower in GCA when compared to IA (p = 0.009). GCA patients required significantly less aortic surgery during follow-up than IA patients (p = 0.02). Mean age, sex-ratio, inflammatory parameters and free of aortic aneurism-survival were equivalent in patients with IA ≥ 60y when compared to patients with GCA-related aortitis.Conclusions: IA is more severe than aortitis related to GCA, with higher proportions of aortic aneurism at diagnosis and during follow-up. IA is a heterogeneous disease and its prognosis is worse in younger patients &lt; 60y. Most patients with IA ≥ 60y share many features with GCA-related aortitis