Computational and Analytical Bounds for Multivariate Bernoulli Distributions

Building on a new but simple method to characterize multivariate Bernoulli variables with given means, we investigate their dependence structure. We evaluate on some computational examples whether the assumption of exchangeability is binding. This is useful in applications where exchangeability is a standard assumption, such as credit risk

A Giant Gastric Hyperplastic Polyp in Non-Familial Juvenile Polyposis of the Stomach: A Case Report

Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract, which may also occur in people with no family history of the disorder. It usually involves the colorectum and more rarely the stomach. Juvenile polyps can vary in size from a few millimeters to over 5cm, and, although they have microscopically specific characteristics, the distinction between them and inflammatory polyps is often difficult. Here we present a case of 41 year old woman with no family history of polyposis who underwent esophagogastroduodenoscopy (EGDS) because of anemia that showed a huge and extensive gastric lesion (10 cm in diameter) and other small polyps scattered through the stomach lumen and duodenum. The histology report revealed the big lesion and the polyps were hyperplastic polyps with infiltration of inflammatory cells. Due to clinical history and EGDS findings, the patient underwent a pylorus-preserving gastrectomy, and to define a final diagnosis genetic test was performed and showed mutation in the SMAD4 gene. Thus non-familial juvenile polyposis of the stomach was diagnosed. An original feature of the current case was the rare finding of huge hyperplastic gastric polyp in a woman with rare non-familial JPS of the stomach. In fact, to our best knowledge this is the first report describing a so giant gastric polyp in JPS of the stomach in an adult woman. Furthermore, our report suggests that it is noteworthy to consider JP as differential diagnosis in patients with non-familial polyposis, anemia or hypoproteinemia and polyps histologically diagnosed as hyperplastic and performing genetic testing for confirming diagnosis and helping in the timely and appropriate management

Compression of the inferior vena cava in bowel obstruction

INTRODUCTION: We investigated whether (a) the inferior vena cava (IVC) is compressed in bowel obstruction and (b) some tracts are more compressed than others. METHODS: Two groups of abdominal computed tomography (CT) examinations were collected retrospectively. Group O (N = 69) scans were positive for bowel obstruction, group C (N = 50) scans were negative for diseases. IVC anteroposterior and lateral diameters (APD, LAD) were assessed at seven levels. RESULTS: In group C, IVC section had an elliptic shape (APD/LAD: .76 \ub1 .14), the area of which increased gradually from 1.9 (confluence of the iliac veins) to 3.1\u2009cm\ub2/m\ub2 of BSA (confluence of the hepatic veins) with a significant narrowing in the hepatic section. In group O, bowel obstruction caused a compression of IVC (APD/LAD: .54 \ub1 .17). Along its course, IVC section area increased from 1.3 to 2.5\u2009cm\ub2/m\ub2. At ROC curve analysis, an APD/LAD ratio lower than 0.63 above the confluence of the iliac veins discriminated between O and C groups with sensitivity of 74% and specificity of 96%. CONCLUSIONS: Bowel obstruction caused a compression of IVC, which involved its entire course except for the terminal section. APD/LAD ratio may be useful to monitor the degree of compression

Characterization and identification of hidden rare variants in the human genome

BackgroundBy examining the genotype calls generated by the 1000 Genomes Project we discovered that the human reference genome GRCh37 contains almost 20,000 loci in which the reference allele has never been observed in healthy individuals and around 70,000 loci in which it has been observed only in the heterozygous state.ResultsWe show that a large fraction of this rare reference allele (RRA) loci belongs to coding, functional and regulatory elements of the genome and could be linked to rare Mendelian disorders as well as cancer. We also demonstrate that classical germline and somatic variant calling tools are not capable to recognize the rare allele when present in these loci. To overcome such limitations, we developed a novel tool, named RAREVATOR, that is able to identify and call the rare allele in these genomic positions. By using a small cancer dataset we compared our tool with two state-of-the-art callers and we found that RAREVATOR identified more than 1,500 germline and 22 somatic RRA variants missed by the two methods and which belong to significantly mutated pathways.ConclusionsThese results show that, to date, the investigation of around 100,000 loci of the human genome has been missed by re-sequencing experiments based on the GRCh37 assembly and that our tool can fill the gap left by other methods. Moreover, the investigation of the latest version of the human reference genome, GRCh38, showed that although the GRC corrected almost all insertions and a small part of SNVs and deletions, a large number of functionally relevant RRAs still remain unchanged. For this reason, also future resequencing experiments, based on GRCh38, will benefit from RAREVATOR analysis results. RAREVATOR is freely available at http://sourceforge.net/projects/rarevator

Metabolic Syndrome and Obesity among workers at Kanye Seventh Day Adventist Hospital, Botswana

Introduction: Metabolic syndrome and obesity are risk factors for developing type II diabetes mellitus and/or cardiovascular disease, especially stroke. There is evidence worldwide of the high prevalence of these pathologies in health care providers. Objectives: To determine the frequency of metabolic syndrome, overweight, obesity and risk of developing metabolic syndrome in workers of Kanye Seventh Day Adventist Hospital, Botswana. Methods: Observational and cross-sectional study. For the detection of metabolic syndrome the criteria of the Adult Treatment Panel III was used, and for obesity the body mass index of 150 workers was applied. Data was grouped and analyzed according to gender, age and type of work. Results: 34% of the hospital workers had metabolic syndrome; the same percentage were at high risk of developing metabolic syndrome;, 28.7% had obesity and 27.3% were overweight. A strong association between obesity and metabolic syndrome with female gender was found. The age group between 35 and 54 years was the most affected. Conclusions: There is a high prevalence of obesity and metabolic syndrome among Kanye Adventist Hospital workers. We recommend the incorporation of programs that seek to screen these risk factors as routine medical exams and improve the lifestyle of the health care workers of Botswana. The study findings could be the basis for future research in hospital staff and the general population

FGF-trapping hampers cancer stem-like cells in uveal melanoma

Background: Cancer stem-like cells (CSCs) are a subpopulation of tumor cells responsible for tumor initiation, metastasis, chemoresistance, and relapse. Recently, CSCs have been identified in Uveal Melanoma (UM), which represents the most common primary tumor of the eye. UM is highly resistant to systemic chemotherapy and effective therapies aimed at improving overall survival of patients are eagerly required. Methods: Herein, taking advantage from a pan Fibroblast Growth Factor (FGF)-trap molecule, we singled out and analyzed a UM-CSC subset with marked stem-like properties. A hierarchical clustering of gene expression data publicly available on The Cancer Genome Atlas (TCGA) was performed to identify patients' clusters. Results: By disrupting the FGF/FGF receptor (FGFR)-mediated signaling, we unmasked an FGF-sensitive UM population characterized by increased expression of numerous stemness-related transcription factors, enhanced aldehyde dehydrogenase (ALDH) activity, and tumor-sphere formation capacity. Moreover, FGF inhibition deeply affected UM-CSC survival in vivo in a chorioallantoic membrane (CAM) tumor graft assay, resulting in the reduction of tumor growth. At clinical level, hierarchical clustering of TCGA gene expression data revealed a strong correlation between FGFs/FGFRs and stemness-related genes, allowing the identification of three distinct clusters characterized by different clinical outcomes. Conclusions: Our findings support the evidence that the FGF/FGFR axis represents a master regulator of cancer stemness in primary UM tumors and point to anti-FGF treatments as a novel therapeutic strategy to hit the CSC component in UM

Glycopatterns of the foregut in the striped dolphin Stenella coeruleoalba, Meyen 1833 from the Mediterranean Sea

AbstractThe glycopatterns of the glycans secreted by the mucosa of stomach and duodenal ampulla of the striped dolphin, Stenella coeruleoalba were studied by histochemical (Periodic acid‐Schiff, Alcian Blue pH 2.5, High Iron Diamine) and lectin‐binding (SBA, DBA, PNA, WGA, MAA‐II, SNA, ConA, UEA‐I, AAA, LTA) techniques. The stomach can be divided into four compartments: main stomach, two connecting chambers and pylorus. The pylorus is followed by the duodenal ampulla. Mucins are secreted by surface cells and intramucosal glands specific for each compartment. In the main stomach glands, neck cells were weakly sulphated, with prevailing glycosaminylated, glycosylated/mannosylated, and fucosylated residuals. Parietal and chief cells in general were scarcely reactive. In the connecting chambers glands, there were high levels of sulphation, glycosaminylation, glycosylation/mannosylation, and fucosylation, the latter with more complex patterns than those observed in the main stomach glands. In the pyloric glands sulphated, glycosaminylated and fucosylated residuals decreased, whereas the opposite was observed for galactosyl/galactosaminylated residuals. Glycosylation patterns in the glands of the duodenal ampulla differed from those of the pyloric ones, with similar levels of sulphation, lower levels of galactosyl/galactosaminylation and glycosaminylation, and higher level of fucosylation. The results are compared with those available in literature