Myasthenie - spondylarthropathies: association fortuite ? A propos d’un cas et revue de la littérature

Propos Nous rapportons le cas d’un patient atteint d’une myasthénie associée à une spondylarthropathie. Cette observation est originale de part sa rareté, six cas seulement on été rapportés dans la littérature et le problème que pose cette association : est ce qu’elle est fortuite ou impliquerait-elle d’autres facteurs génétiques qui restent à prouver ?Observation Monsieur J.H. âgé de 32 ans, aux antécédents de myasthénie depuis 2002, était hospitalisé en avril 2004 pour polyarthrite chronique bilatérale et asymétrique évoluant depuis un an, touchant le poignet gauche, les inter phalangiennes proximales des 3ème et 5ème doigts droits et le genou droit associées à des talalgiesbilatérales et une douleur des articulations sacro-iliaques. La biologie montrait un syndrome inflammatoire modéré, des facteurs rhumatoïdes faiblement positifs et un typage HLA B7 et B17. Le bilan radiologiquemontrait une arthrite des mains, une enthésite calcanéenne et permettait de suspecter une sacro-iliite bilatérale qui était confirmée par un scanner. L’évolution était bonne sous anti- inflammatoires nonstéroïdiens pendant 6 mois. Il consulte en janvier 2006 pour le même tableau associé à une sècheresse buccale et oculaire. Le bilan trouvait une VS à 20, des facteurs rhumatoïdes faiblement positifs mais desAAN positifs à un taux 1/160 homogènes avec des anti SSA. Les radiographies standard montraient une carpite stade II gauche. L’examen ophtalmologique a confirmé le syndrome sec oculaire. La biopsie des glandes salivaires accessoires a montré un syndrome de Gougerot Sjögren grade 2 de Shisholm

Explainable Artificial Intelligence in communication networks: A use case for failure identification in microwave networks

Artificial Intelligence (AI) has demonstrated superhuman capabilities in solving a significant number of tasks, leading to widespread industrial adoption. For in-field network-management application, AI-based solutions, however, have often risen skepticism among practitioners as their internal reasoning is not exposed and their decisions cannot be easily explained, preventing humans from trusting and even understanding them. To address this shortcoming, a new area in AI, called Explainable AI (XAI), is attracting the attention of both academic and industrial researchers. XAI is concerned with explaining and interpreting the internal reasoning and the outcome of AI-based models to achieve more trustable and practical deployment. In this work, we investigate the application of XAI for network management, focusing on the problem of automated failure-cause identification in microwave networks. We first introduce the concept of XAI, highlighting its advantages in the context of network management, and we discuss in detail the concept behind Shapley Additive Explanations (SHAP), the XAI framework considered in our analysis. Then, we propose a framework for a XAI-assisted ML-based automated failure-cause identification in microwave networks, spanning model's development and deployment phases. For the development phase, we show how to exploit SHAP for feature selection and how to leverage SHAP to inspect misclassified instances during model's development process, and how to describe model's global behavior based on SHAP's global explanations. For the deployment phase, we propose a framework based on predictions uncertainty to detect possibly wrong predictions that will be inspected through XAI

Spectroscopy of the Young Stellar Association Price-Whelan 1: Origin in the Magellanic Leading Arm and Constraints on the Milky Way Hot Halo

We report spectroscopic measurements of stars in the recently discovered young stellar association Price-Whelan 1 (PW 1), which was found in the vicinity of the Leading Arm (LA) of the Magellanic Stream. We obtained Magellan+MIKE high-resolution spectra of the 28 brightest stars in PW 1 and used The Cannon to determine their stellar parameters. We find that the mean metallicity of PW 1 is [Fe/H]=-1.23 with a small scatter of 0.06 dex and the mean radial velocity is Vhelio=276.7 km/s with a dispersion of 11.0 km/s. Our results are consistent in Teff, logg, and [Fe/H] with the young and metal-poor characteristics (116 Myr and [Fe/H]=-1.1) determined for PW 1 from our discovery paper. We find a strong correlation between the spatial pattern of the PW 1 stars and the LA II gas with an offset of -10.15 deg in L_MS and +1.55 deg in B_MS. The similarity in metallicity, velocity, and spatial patterns indicates that PW 1 likely originated in LA II. We find that the spatial and kinematic separation between LA II and PW 1 can be explained by ram pressure from Milky Way gas. Using orbit integrations that account for the LMC and MW halo and outer disk gas, we constrain the halo gas density at the orbital pericenter of PW 1 to be n_halo (17 kpc) = 2.7 (3) x 10^-3 atoms/cm^3 and the disk gas density at the midplane at 20 kpc to be n_disk (20 kpc,0) = 6.0 (1.8) x 10^-2 atoms/cm^3. We, therefore, conclude that PW 1 formed from the LA II of the Magellanic Stream, making it a powerful constraint on the Milky Way-Magellanic interaction.Comment: 18 pages, 13 figures, 1 table, submitted to Ap

Rising statin use and effect on ischemic stroke outcome

BACKGROUND: Statins (3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors) have neuroprotective effects in experimental stroke models and are commonly prescribed in clinical practice. The aim of this study was to determine if patients taking statins before hospital admission for stroke had an improved clinical outcome. METHODS: This was an observational study of 436 patients admitted to the National Institutes of Health Suburban Hospital Stroke Program between July 2000 and December 2002. Self-reported risk factors for stroke were obtained on admission. Stroke severity was determined by the admission National Institutes of Health Stroke Scale score. Good outcome was defined as a Rankin score < 2 at discharge. Statistical analyses used univariate and multivariate logistic regression models. RESULTS: There were 436 patients with a final diagnosis of ischemic stroke; statin data were available for 433 of them. A total of 95/433 (22%) of patients were taking a statin when they were admitted, rising from 16% in 2000 to 26% in 2002. Fifty-one percent of patients taking statins had a good outcome compared to 38% of patients not taking statins (p = 0.03). After adjustment for confounding factors, statin pretreatment was associated with a 2.9 odds (95% CI: 1.2–6.7) of a good outcome at the time of hospital discharge. CONCLUSIONS: The proportion of patients taking statins when they are admitted with stroke is rising rapidly. Statin pretreatment was significantly associated with an improved functional outcome at discharge. This finding could support the early initiation of statin therapy after stroke

Protocol of a Multicentre Randomised Controlled Trial Assessing Transperineal Prostate Biopsy to Reduce Infectiouscomplications

Introduction Approximately one million prostate biopsies are performed annually in the USA, and most are performed using a transrectal approach under local anaesthesia. The risk of postbiopsy infection is increasing due to increasing antibiotic resistance of rectal flora. Single-centre studies suggest that a clean, percutaneous transperineal approach to prostate biopsy may have a lower risk of infection. To date, there is no high-level evidence comparing transperineal versus transrectal prostate biopsy. We hypothesise that transperineal versus transrectal prostate biopsy under local anaesthesia has a significantly lower risk of infection, similar pain/discomfort levels and comparable detection of non-low-grade prostate cancer. Methods and analysis We will perform a multicentre, prospective randomised clinical trial to compare transperineal versus transrectal prostate biopsy for elevated prostate-specific antigen in the first biopsy, prior negative biopsy and active surveillance biopsy setting. Prostate MRI will be performed prior to biopsy, and targeted biopsy will be conducted for suspicious MRI lesions in addition to systematic biopsy (12 cores). Approximately 1700 men will be recruited and randomised in a 1:1 ratio to transperineal versus transrectal biopsy. A streamlined design to collect data and to determine trial eligibility along with the two-stage consent process will be used to facilitate subject recruitment and retention. The primary outcome is postbiopsy infection, and secondary outcomes include other adverse events (bleeding, urinary retention), pain/ discomfort/anxiety and critically, detection of non-low-grade (grade group ≥2) prostate cancer. Ethics and dissemination The Institutional Review Board of the Biomedical Research Alliance of New York approved the research protocol (protocol number #18-02-365, approved 20 April 2020). The results of the trial will be presented at scientific conferences and published in peer-reviewed medical journals. Trial registration number NCT04815876

Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways

Background: Genetic studies of human lung function and Chronic Obstructive Pulmonary Disease have identified a highly significant and reproducible signal on 4q24. It remains unclear which of the two candidate genes within this locus may regulate lung function: GSTCD, a gene with unknown function, and/or INTS12, a member of the Integrator Complex which is currently thought to mediate 3'end processing of small nuclear RNAs.Results: We found that, in lung tissue, 4q24 polymorphisms associated with lung function correlate with INTS12 but not neighbouring GSTCD expression. In contrast to the previous reports in other species, we only observed a minor alteration of snRNA processing following INTS12 depletion. RNAseq analysis of knockdown cells instead revealed dysregulation of a core subset of genes relevant to airway biology and a robust downregulation of protein synthesis pathways. Consistent with this, protein translation was decreased in INTS12 knockdown cells. In addition, ChIPseq experiments demonstrated INTS12 binding throughout the genome, which was enriched in transcriptionally active regions. Finally, we defined the INTS12 regulome which includes genes belonging to the protein synthesis pathways.Conclusion: INTS12 has functions beyond the canonical snRNA processing. We show that it regulates translation by regulating the expression of genes belonging to protein synthesis pathways. This study provides a detailed analysis of INTS12 activities on a genome-wide scale and contributes to the biology behind the genetic association for lung function at 4q24.</p

Horizons: nuclear astrophysics in the 2020s and beyond

Nuclear astrophysics is a field at the intersection of nuclear physics and astrophysics, which seeks to understand the nuclear engines of astronomical objects and the origin of the chemical elements. This white paper summarizes progress and status of the field, the new open questions that have emerged, and the tremendous scientific opportunities that have opened up with major advances in capabilities across an ever growing number of disciplines and subfields that need to be integrated. We take a holistic view of the field discussing the unique challenges and opportunities in nuclear astrophysics in regards to science, diversity, education, and the interdisciplinarity and breadth of the field. Clearly nuclear astrophysics is a dynamic field with a bright future that is entering a new era of discovery opportunities

Horizons: nuclear astrophysics in the 2020s and beyond

Nuclear astrophysics is a field at the intersection of nuclear physics and astrophysics, which seeks to understand the nuclear engines of astronomical objects and the origin of the chemical elements. This white paper summarizes progress and status of the field, the new open questions that have emerged, and the tremendous scientific opportunities that have opened up with major advances in capabilities across an ever growing number of disciplines and subfields that need to be integrated. We take a holistic view of the field discussing the unique challenges and opportunities in nuclear astrophysics in regards to science, diversity, education, and the interdisciplinarity and breadth of the field. Clearly nuclear astrophysics is a dynamic field with a bright future that is entering a new era of discovery opportunities

Horizons: Nuclear Astrophysics in the 2020s and Beyond

Nuclear Astrophysics is a field at the intersection of nuclear physics and astrophysics, which seeks to understand the nuclear engines of astronomical objects and the origin of the chemical elements. This white paper summarizes progress and status of the field, the new open questions that have emerged, and the tremendous scientific opportunities that have opened up with major advances in capabilities across an ever growing number of disciplines and subfields that need to be integrated. We take a holistic view of the field discussing the unique challenges and opportunities in nuclear astrophysics in regards to science, diversity, education, and the interdisciplinarity and breadth of the field. Clearly nuclear astrophysics is a dynamic field with a bright future that is entering a new era of discovery opportunities.Comment: 96 pages. Submitted to Journal of Physics