Frequency of "BRCA1" and "BRCA2" causative founder variants in ovarian cancer patients in South-East Poland

Background Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland. Methods We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We studied 13 Polish causative founder variants in BRCA1 (c.5266dupC, c.4035delA, c.5251C > T, c.181 T > G, c.676delT, c.68_69delAG, c.3700_3704delGTAAA, c.1687C > T, c.3756_3759delGTCT) and in BRCA2 (c.658_659delGT, c.7910_7914delCCTTT, c.3847_3848delGT, c.5946delT). Results A BRCA1 causative founder variants were detected in 10 of the 158 (6.3%) ovarian cancer cases. BRCA2 causative founder variants were not observed. The c.5266dupC mutation was detected in 6 patients, c.181 T > G mutation in 3 patients and the c.676delT mutation in 1 patient. The median age of diagnosis of the 10 hereditary ovarian cancers was 55.5 years of age. Conclusions The frequency of 13 causative founder variants in Podkarpacie was lower than in other regions of Poland. Testing of three BRCA1 mutations (c.5266dupC, c.181 T > G, c.676delT) should be considered a sensitive test panel

Empirical Investigation on Agile Methods Usage: Issues Identified from Early Adopters in Malaysia

Agile Methods are a set of software practices that can help to produce products faster and at the same time deliver what customers want. Despite the benefits that Agile methods can deliver, however, we found few studies from the Southeast Asia region, particularly Malaysia. As a result, less empirical evidence can be obtained in the country making its implementation harder. To use a new method, experience from other practitioners is critical, which describes what is important, what is possible and what is not possible concerning Agile. We conducted a qualitative study to understand the issues faced by early adopters in Malaysia where Agile methods are still relatively new. The initial study involves 13 participants including project managers, CEOs, founders and software developers from seven organisations. Our study has shown that social and human aspects are important when using Agile methods. While technical aspects have always been considered to exist in software development, we found these factors to be less important when using Agile methods. The results obtained can serve as guidelines to practitioners in the country and the neighbouring regions

Archival data on wild food plants used in Poland in 1948

<p>Abstract</p> <p>Background</p> <p>In 1948, Professor Józef Gajek initiated a detailed census of the wild edible plants used in Poland. The questionnaires were collected by correspondents of the Polish Folklore Society in 95 localities throughout Poland. A major part of these archival materials, including a substantial collection of herbarium specimens, had not undergone thorough analysis prior to this study, which presents a quantitative analysis of this archival set of data.</p> <p>Methods</p> <p>Herbarium specimens were identified and a database was created.</p> <p>Results</p> <p>Ninety-eight taxa identified to genus or species level, including 71 botanical species, identified using herbarium specimens, were found. On average only 11 edible plant species per locality were listed, the longest list included 39 species. No correlation between latitude and the number of edible species was found, whereas there was small but significant correlation with the longitude. Fruits were the most frequently collected part of plants. Most plants were primarily collected by women and children. Children both helped parents to collect wild fruits and also ate many species raw, which were not consumed by adults, but had often been eaten in the past. Eighteen of the taxa had not been reported in a recent comprehensive review of edible plants of Poland. <it>Stratiotes aloides</it>, used as a famine vegetable in the Łódź region, has never been reported as edible in any ethnobotanical literature.</p> <p>Conclusion</p> <p>The results undermine the conclusions of a recent comprehensive review of edible plants of Poland, which stated that many more wild edible plants have been collected in the Carpathians than in lowland Poland. However such results were shown to be caused by the substantially larger number of ethnographic studies undertaken in the Carpathians. In fact, large numbers of edible plant species were collected in the mid-20^thcentury in a few regions, particularly along the eastern border, in the Carpathians and in communities originating from the expanded Soviet Union, which had been resettled to the north-west of Poland in 1945.</p

Porphyromonas gingivalis in Alzheimer's disease brains : evidence for disease causation and treatment with small-molecule inhibitors

Porphyromonas gingivalis, the keystone pathogen in chronic periodontitis, was identified in the brain of Alzheimer's disease patients. Toxic proteases from the bacterium called gingipains were also identified in the brain of Alzheimer's patients, and levels correlated with tau and ubiquitin pathology. Oral P. gingivalis infection in mice resulted in brain colonization and increased production of Aβ1-42, a component of amyloid plaques. Further, gingipains were neurotoxic in vivo and in vitro, exerting detrimental effects on tau, a protein needed for normal neuronal function. To block this neurotoxicity, we designed and synthesized small-molecule inhibitors targeting gingipains. Gingipain inhibition reduced the bacterial load of an established P. gingivalis brain infection, blocked Aβ1-42 production, reduced neuroinflammation, and rescued neurons in the hippocampus. These data suggest that gingipain inhibitors could be valuable for treating P. gingivalis brain colonization and neurodegeneration in Alzheimer's disease

A feature selection method for classification within functional genomics experiments based on the proportional overlapping score

Background: Microarray technology, as well as other functional genomics experiments, allow simultaneous measurements of thousands of genes within each sample. Both the prediction accuracy and interpretability of a classifier could be enhanced by performing the classification based only on selected discriminative genes. We propose a statistical method for selecting genes based on overlapping analysis of expression data across classes. This method results in a novel measure, called proportional overlapping score (POS), of a feature's relevance to a classification task.Results: We apply POS, along-with four widely used gene selection methods, to several benchmark gene expression datasets. The experimental results of classification error rates computed using the Random Forest, k Nearest Neighbor and Support Vector Machine classifiers show that POS achieves a better performance.Conclusions: A novel gene selection method, POS, is proposed. POS analyzes the expressions overlap across classes taking into account the proportions of overlapping samples. It robustly defines a mask for each gene that allows it to minimize the effect of expression outliers. The constructed masks along-with a novel gene score are exploited to produce the selected subset of genes

Re-Arrest Among Juvenile Justice-Involved Youth: An Examination Of The Static And Dynamic Risk Factors

The purpose of this study is to investigate the static and dynamic risk factors for re-arrest among detained youth by examining gender, race/ethnicity, age, special education and mental health variables (i.e., anger/irritability, depression/anxiety, somatic complaints, suicide ideation, thought disturbances, and traumatic experiences). The demographic profiles of detained youth with one admit were also compared with those with multiple admits to the juvenile detention center. With regards to static risk factors, older, white, and special education were significantly at risk of re-arrest. Concerning dynamic risk factors, only anger/irritability predicted re-arrest. Practice implications are also discussed