48 research outputs found
Benchmarking in cluster analysis: A white paper
To achieve scientific progress in terms of building a cumulative body of
knowledge, careful attention to benchmarking is of the utmost importance. This
means that proposals of new methods of data pre-processing, new data-analytic
techniques, and new methods of output post-processing, should be extensively
and carefully compared with existing alternatives, and that existing methods
should be subjected to neutral comparison studies. To date, benchmarking and
recommendations for benchmarking have been frequently seen in the context of
supervised learning. Unfortunately, there has been a dearth of guidelines for
benchmarking in an unsupervised setting, with the area of clustering as an
important subdomain. To address this problem, discussion is given to the
theoretical conceptual underpinnings of benchmarking in the field of cluster
analysis by means of simulated as well as empirical data. Subsequently, the
practicalities of how to address benchmarking questions in clustering are dealt
with, and foundational recommendations are made
Genetic landscape of a large cohort of Primary Ovarian Insufficiency : New genes and pathways and implications for personalized medicine
Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology.Methods 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. Findings A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromo-somal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link.Interpretation We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogene-sis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility.Funding Universite? Paris Saclay, Agence Nationale de Biome?decine.Copyright (c) 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)Peer reviewe
Study and Conservation of Lyon Saint-Georges 4, a Flat-Bottom Boat from the 2nd Century AD
International conference, 1-2 december 2016, Maison des Sciences de l’Homme (MSH) de Dijon within the framework of the Special Research Programme (DFG-SPP 1630) "Harbours from the Roman Period to the Middle Ages"International audienc
Etude du Modified Early Warning Score (MEWS) au poste IOA du service d'accueil des urgences (existe-t-il un score prédictif d'aggravation de la situation clinique des patients ?)
STRASBOURG-Medecine (674822101) / SudocSudocFranceF
Lyon Saint-Georges 4. Différents types de réparations et d'entretien sur une épave : technique et savoir-faire au II<sup>e</sup> siècle
International audienc
Different kinds of repairs and maintenance on a 2nd century AD wreck: the Lyon Saint-Georges 4 barge
International audienc
Different kinds of repairs and maintenance on a 2nd century AD wreck: the Lyon Saint-Georges 4 barge
International audienc
Caulking Textiles from the Lyon Saint-Georges 4 Shipwreck: Recording and Conservation Questions
International audienceThe conservation of the 2nd century AD Roman barge LyonSaint-Georges 4 (LSG4) in 2014 provided the opportunity to remove 26 linear meters of the caulking, consisting of a mixture of tar and textiles from between its sides and the flat-bottom. Attempts were made to unfold the material based on prior experience, but this resulted in the destruction of the samples. A new and readily accessible solution had to be found, which would better conserve the material. This new process consists of heating the samples in demineralized water to 100 °C, thus the tar becomes plastic enough to unfold the textiles. Two questions arose during this project: first, how to record each step of the process, because material changes are irreversible, and secondly, how to conserve the textile, avoiding as much degradation as possible during the unfolding process.The study of the textiles suggests that the material is caulking (used after the wooden ship was assembled) as opposed to luting (utilized during the construction of the wood). This helped provide new data for archaeological assessment. Additionally, the analysis of the images of the partially unfolded textiles will help us to understand the way Roman caulkers prepared and used the textiles. Due to the good preservation conditions (an anaerobic environment, impregnation with tar and the constriction between the planks in the wreck itself) this component of the LSG4 conservation project allowed us to recover the most important group of Roman textiles in Europe consisting of nearly 3 m2 . This has led to new research questions: were these textiles specifically chosen for that use? Were they recycled from nearby? Do they present specific technical properties