Congenital Midline Upper Lip Sinuses: 3 Rare Cases

Congenital sinuses of the upper lip are rare congenital malformations. There have been only 40 cases described in the literature. We report 3 cases of congenital midline upper lip sinus in Caucasian children. Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous cleft palate with bifid uvula). The pathophysiology remains unexplained yet. Congenital upper lip sinuses can be considered as possible microforms of cleft-lips. Associated anomalies are frequent and must be sought. The treatment is a full excision of the sinus tract and of the skin around the punctum in order to avoid risks of recurrence

Determining appropriate approaches for using data in feature selection

Feature selection is increasingly important in data analysis and machine learning in big data era. However, how to use the data in feature selection, i.e. using either ALL or PART of a dataset, has become a serious and tricky issue. Whilst the conventional practice of using all the data in feature selection may lead to selection bias, using part of the data may, on the other hand, lead to underestimating the relevant features under some conditions. This paper investigates these two strategies systematically in terms of reliability and effectiveness, and then determines their suitability for datasets with different characteristics. The reliability is measured by the Average Tanimoto Index and the Inter-method Average Tanimoto Index, and the effectiveness is measured by the mean generalisation accuracy of classification. The computational experiments are carried out on ten real-world benchmark datasets and fourteen synthetic datasets. The synthetic datasets are generated with a pre-set number of relevant features and varied numbers of irrelevant features and instances, and added with different levels of noise. The results indicate that the PART approach is more effective in reducing the bias when the size of a dataset is small but starts to lose its advantage as the dataset size increases

Infection with Toxoplasma gondii does not Alter TNFα and IL-6 Secretion by A human Astrocytoma Cell Line

The secretion of tumour necrosis factor-α (TNFα), interleukin-1α (IL-α) and interleukin-6 (IL-6) by a human astrocytoma cell fine was studied 1 h, 3 h, 6 h and 24 h after infection with tachyzoites from three Toxoplasma gondii strains (virulent, RH; cystogentc, 76K and Prugniaud strains). The astrocytoma cell fine constitutively secreted TNFα and IL-6, but no IL-1α. A positive control was obtained by stimulation with phorbol esters inducing a significant increase (p < 0.05) in TNFα and IL- 6 secretion but not in IL-1α, while lipopolysaccharide (alone and after priming), interferon gamma, ionophore A 23187 and sera positive to T. gondii did not induce any increase in cytokine levels. None of the tachyzoites, whatever their virulence, induced a significant increase in cytokine production at any time in the study. Tachyzoites did not inhibit the secretion induced by phorbol esters

Bimodality and alternative equilibria do not help explain long-term patterns in shallow lake chlorophyll-a

Since its inception, the theory of alternative equilibria in shallow lakes has evolved and been applied to an ever wider range of ecological and socioecological systems. The theory posits the existence of two alternative stable states or equilibria, which in shallow lakes are characterised by either clear water with abundant plants or turbid water where phytoplankton dominate. Here, we used data simulations and real-world data sets from Denmark and north-eastern USA (902 lakes in total) to examine the relationship between shallow lake phytoplankton biomass (chlorophyll-a) and nutrient concentrations across a range of timescales. The data simulations demonstrated that three diagnostic tests could reliably identify the presence or absence of alternative equilibria. The real-world data accorded with data simulations where alternative equilibria were absent. Crucially, it was only as the temporal scale of observation increased (>3 years) that a predictable linear relationship between nutrient concentration and chlorophyll-a was evident. Thus, when a longer term perspective is taken, the notion of alternative equilibria is not required to explain the response of chlorophyll-a to nutrient enrichment which questions the utility of the theory for explaining shallow lake response to, and recovery from, eutrophication.C.D.S. and T.A.D. would like to thank June and Derek Sayer for extraordinary support over many years. The authors of this work have been supported by a number of projects over the elephantine gestation period of this manuscript. These include support from the Poul Due Jensen Fonden, Danmarks Frie Forskningsfond Natur og Univers project GREENLAKES (No. 9040-00195B) and the UFM-funded project LTER_DK for Long Term Ecosystem Research in Denmark. In addition, support was provided by The European Union’s Horizon 2020 research and innovation programmes under grant agreement No 869296—The PONDERFUL Project”, TREICLAKE under grant agreement No 951963, and the AQUACOSM project and by the European Commission EU H2020- INFRAIA-project (No. 731065) and AQUACOSMplus (No. 871081). E.J. was also supported by the TÜBITAK outstanding researcher programme2232 (project 118C250) and AnaEE, Denmark. The work of D.G. was funded by the Fourth Period of Programme-oriented Funding, Helmholtz Association of German ResearchCentres, Research Field Earth and Environment.C.D.S. and T.A.D. would like to thank June and Derek Sayer for extraordinary support over many years. The authors of this work have been supported by a number of projects over the elephantine gestation period of this manuscript. These include support from the Poul Due Jensen Fonden, Danmarks Frie Forskningsfond Natur og Univers project GREENLAKES (No. 9040-00195B) and the UFM-funded project LTER_DK for Long Term Ecosystem Research in Denmark. In addition, support was provided by The European Union’s Horizon 2020 research and innovation programmes under grant agreement No 869296—The PONDERFUL Project”, TREICLAKE under grant agreement No 951963, and the AQUACOSM project and by the European Commission EU H2020- INFRAIA-project (No. 731065) and AQUACOSMplus (No. 871081). E.J. was also supported by the TÜBITAK outstanding researcher programme2232 (project 118C250) and AnaEE, Denmark. The work of D.G. was funded by the Fourth Period of Programme-oriented Funding, Helmholtz Association of German ResearchCentres, Research Field Earth and Environment

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon

BACKGROUND: Genetic variation at loci influencing adult levels of HbF have been shown to modify the clinical course of sickle cell disease (SCD). Data on this important aspect of SCD have not yet been reported from West Africa. We investigated the relationship between HbF levels and the relevant genetic loci in 610 patients with SCD (98% HbSS homozygotes) from Cameroon, and compared the results to a well-characterized African-American cohort. Methods and FINDINGS: Socio-demographic and clinical features were collected and medical records reviewed. Only patients >5 years old, who had not received a blood transfusion or treatment with hydroxyurea were included. Hemoglobin electrophoresis and a full blood count were conducted upon arrival at the hospital. RFLP-PCR was used to describe the HBB gene haplotypes. SNaPshot PCR, Capillary electrophoresis and cycle sequencing were used for the genotyping of 10 selected SNPs. Genetic analysis was performed with PLINK software and statistical models in the statistical package R. Allele frequencies of relevant variants at BCL11A were similar to those detected in African Americans; although the relationships with Hb F were significant (p <.001), they explained substantially less of the variance in HbF than was observed among African Americans (∼ 2% vs 10%). SNPs in HBS1L-MYB region ( HMIP ) likewise had a significant impact on HbF, however, we did not find an association between HbF and the variations in HBB cluster and OR51B5/6 locus on chromosome 11p, due in part to the virtual absence of the Senegal and Indian Arab haplotypes. We also found evidence that selected SNPs in HBS1L-MYB region ( HMIP ) and BCL11A affect both other hematological indices and rates of hospitalization. CONCLUSIONS: This study has confirmed the associations of SNPs in BCL11A and HBS1L-MYB and fetal haemoglobin in Cameroonian SCA patients; hematological indices and hospitalization rates were also associated with specific allelic variants

Filamentation of high-angle nondiffracting beams and applications to ultrafast laser processing

International audienceWe report on filamentation of nondiffracting beams and show that the intense light-matter interaction regime achieved on long distances allows for an enhanced control on ultrashort laser deep ablation

Identification of disease-causing genes using microarray data mining and gene ontology

Background: One of the best and most accurate methods for identifying disease-causing genes is monitoring gene expression values in different samples using microarray technology. One of the shortcomings of microarray data is that they provide a small quantity of samples with respect to the number of genes. This problem reduces the classification accuracy of the methods, so gene selection is essential to improve the predictive accuracy and to identify potential marker genes for a disease. Among numerous existing methods for gene selection, support vector machine-based recursive feature elimination (SVMRFE) has become one of the leading methods, but its performance can be reduced because of the small sample size, noisy data and the fact that the method does not remove redundant genes. Methods: We propose a novel framework for gene selection which uses the advantageous features of conventional methods and addresses their weaknesses. In fact, we have combined the Fisher method and SVMRFE to utilize the advantages of a filtering method as well as an embedded method. Furthermore, we have added a redundancy reduction stage to address the weakness of the Fisher method and SVMRFE. In addition to gene expression values, the proposed method uses Gene Ontology which is a reliable source of information on genes. The use of Gene Ontology can compensate, in part, for the limitations of microarrays, such as having a small number of samples and erroneous measurement results. Results: The proposed method has been applied to colon, Diffuse Large B-Cell Lymphoma (DLBCL) and prostate cancer datasets. The empirical results show that our method has improved classification performance in terms of accuracy, sensitivity and specificity. In addition, the study of the molecular function of selected genes strengthened the hypothesis that these genes are involved in the process of cancer growth. Conclusions: The proposed method addresses the weakness of conventional methods by adding a redundancy reduction stage and utilizing Gene Ontology information. It predicts marker genes for colon, DLBCL and prostate cancer with a high accuracy. The predictions made in this study can serve as a list of candidates for subsequent wet-lab verification and might help in the search for a cure for cancers

La campaña contra los sacerdotes pederastas (1880-1912): un ejemplo de «pánico moral» en la España de la Restauración

This article analyses the campaign promoted by the anticlerical republican press in Restoration Spain against the abuses committed by «paedophile» priests. Based on approximately 400 news items on the subject, taken from the anticlerical press of the time (1880-1912), a total of 151 cases related to pederasty abuses perpetrated by the clergy have been verified. The methodology used is based on the American sociology of «moral panics». After introducing the problem, the sources and chronology, the phases that mark the construction process of this moral panic regarding pederast priests are delineated. Attention is then drawn to the parallelism between the aforementioned journalistic campaign and the growing anticlerical offensive between 1898 and 1912. Finally, the journalistic crusade against paedophile priests is analysed as a political catalyst for struggles that also involve the domination of gender, age and social clas

The influence of feature selection methods on accuracy, stability and interpretability of molecular signatures

Motivation: Biomarker discovery from high-dimensional data is a crucial problem with enormous applications in biology and medicine. It is also extremely challenging from a statistical viewpoint, but surprisingly few studies have investigated the relative strengths and weaknesses of the plethora of existing feature selection methods. Methods: We compare 32 feature selection methods on 4 public gene expression datasets for breast cancer prognosis, in terms of predictive performance, stability and functional interpretability of the signatures they produce. Results: We observe that the feature selection method has a significant influence on the accuracy, stability and interpretability of signatures. Simple filter methods generally outperform more complex embedded or wrapper methods, and ensemble feature selection has generally no positive effect. Overall a simple Student's t-test seems to provide the best results. Availability: Code and data are publicly available at http://cbio.ensmp.fr/~ahaury/