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Combining GPU and FPGA technology for efficient exhaustive interaction analysis in GWAS
2016
Interaction between genes has become a major topic in quantitative genetics. It is believed that these interactions play a significant role in genetic variations causing complex diseases. Due to the number of tests required for an exhaustive search in genome-wide association studies (GWAS), a large amount of computational power is required. In this paper, we present a hybrid architecture consisting of tightly interconnected CPUs, GPUs and FPGAs and a fine-tuned software suite to outperform other implementations in pairwise interaction analysis while consuming less than 300Watts and fitting into a standard desktop computer case.
Extensive osteonecrosis of the maxilla caused by bisphosphonates: Report of a rare case
2019
Bisphosphonates are drugs indicated for the treatment of bone metabolic diseases or malignant hypercalcemia. They are generally well-tolerated drugs, however, recent reports have described osteonecrosis of the jaw bones as a potentially serious complication related to the long-term use of these drugs. We report a case of severe osteonecrosis in a 52-years-old white woman that was taking bisphosphonates (zoledronic acid and alendronate) for the management of osteoporosis. Following a long exposure to these drugs and after being subjected to multiples exodontias, developed bisphosphonate-related osteonecrosis of the jaw compromising the whole maxilla and that extended toward the base of skull…
Quantitative patterns of Hsps in tubular adenoma compared with normal and tumor tissues reveal the value of Hsp10 and Hsp60 in early diagnosis of lar…
2016
Large bowel carcinogenesis involves accumulation of genetic alterations leading to transformation of normal mucosa into dysplasia and, lastly, adenocarcinoma. It is pertinent to elucidate the molecular changes occurring in the pre-neoplastic lesions to facilitate early diagnosis and treatment. Heat shock proteins (Hsps), many of which are molecular chaperones, are implicated in carcinogenesis, and their variations with tumor progression encourage their study as biomarkers. There are many reports on Hsps and cancer but none to our knowledge on their systematic quantification in pre-neoplastic lesions of the large bowel. We performed immunohistochemical determinations of Hsp10, Hsp60, Hsp70, …
A new mass spectrometry-based method for the quantification of histones in plasma from septic shock patients.
2017
The aim of this study was to develop a novel method to detect circulating histones H3 and H2B in plasma based on multiple reaction monitoring targeted mass spectrometry and a multiple reaction monitoring approach (MRM-MS) for its clinical application in critical bacteriaemic septic shock patients. Plasma samples from 17 septic shock patients with confirmed bacteraemia and 10 healthy controls were analysed by an MRM-MS method, which specifically detects presence of histones H3 and H2B. By an internal standard, it was possible to quantify the concentration of circulating histones in plasma, which were significantly higher in patients, and thus confirmed their potential as biomarkers for diagn…
Dysregulated genes and their functional pathways in luteinized granulosa cells from PCOS patients after cabergoline treatment
2018
Polycystic ovarian syndrome (PCOS) is a common reproductive disorder frequently associated with a substantial risk factor for ovarian hyperstimulation syndrome (OHSS). Dopamine receptor 2 (D2) agonists, like cabergoline (Cb2), have been used to reduce the OHSS risk. However, lutein granulosa cells (LGCs) from PCOS patients treated with Cb2 still show a deregulated dopaminergic tone (decreased D2 expression and low dopamine production) and increased vascularization compared to non-PCOS LGCs. Therefore, to understand the PCOS ovarian physiology, it is important to explore the mechanisms that underlie syndrome based on the therapeutic effects of Cb2. Here, LGCs from non-PCOS and PCOS patients …
TLR1 and PRKAA1 Gene Polymorphisms in the Development of Atrophic Gastritis and Gastric Cancer.
2018
Background & Aims: Previous genome-wide association studies showed that genetic polymorphisms in toll-like receptor 1 (TLR1) and protein kinase AMP-activated alpha 1 catalytic subunit (PRKAA1) genes were associated with gastric cancer (GC) or increased Helicobacter pylori (H. pylori) infection susceptibility. The aim of this study was to evaluate the association between TLR1 and PRKAA1 genes polymorphisms and H.pylori infection, atrophic gastritis (AG) or GC in the European population.Methods: Single-nucleotide polymorphisms (SNPs) were analysed in 511 controls, 340 AG patients and 327 GC patients. TLR1 C>T (rs4833095) and PRKAA1 C>T (rs13361707) were genotyped by the real-time po…
What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs
2020
Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …
Occupational Heat Exposure and Breast Cancer Risk in the MCC-Spain Study.
2021
Background: Mechanisms linking occupational heat exposure with chronic diseases have been proposed. However, evidence on occupational heat exposure and cancer risk is limited. Methods: We evaluated occupational heat exposure and female breast cancer risk in a large Spanish case-control study. We enrolled 1,738 breast cancer cases and 1,910 frequency-matched population controls. A Spanish job exposure matrix, MatEmEsp, was used to assign estimates of the proportion of workers exposed (P greater than or equal to 25% for at least one year) and work time with heat stress (wet bulb globe temperature ISO 7243) for each occupation. We used three exposure indices: ever vs. never exposed, lifetime c…
Notch-1 decreased expression contributes to leptin receptor downregulation in nasal epithelium from allergic turbinates
2019
Abstract BACKGROUND: Allergic rhinitis is characterized by a remodeling of nasal epithelium. Since the Notch and TGF-β signaling pathways are known to be involved in cell differentiation and remodeling processes and leptin adipokine has already been identified as a marker for homeostasis in human bronchial and nasal epithelial cells of asthmatics, roles played by these pathways have been investigated for chronic allergic rhinitis. METHODS: The leptin/leptin receptor expression has been investigated in a study with 40 biopsies from allergic (AR, n = 18) and non-allergic (C, n = 22) inferior turbinates, using immunohistochemistry, immunofluorescence staining and RT-PCR. In addition, extracts …
Biomonitoring and evaluation of permethrin uptake in forestry workers using permethrin-treated tick-proof pants.
2014
We conducted a randomized case-control trial to analyze uptake of the insecticide/arcaricide permethrin in wearers of permethrin-impregnated and non-impregnated pants in German forestry. Eighty-two male workers were each equipped for a 16-week period with permethrin-treated (test group) or with non-treated work pants (control group). Pants with or without lining to protect against cuts, obtained from two different distributors, were worn in each group. Urinary permethrin metabolite levels were measured by GC-MS/MS before, during and after wearing of the pants. Permethrin uptake was calculated using additional questionnaire data. In the control group, metabolite levels in the range of enviro…