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The SPADE (spatio-temporal S pike PA ttern D etection and E valuation) method was developed to find reoccurring spatio-temporal patterns in neuronal spike activity (parallel spike trains). However, depending on the number of spike trains and the length of recording, this method can exhibit long runtimes. Based on a realistic benchmark data set, we identified that the combination of pattern mining (using the FP-Growth algorithm) and the result filtering account for 85–90% of the method's total runtime. Therefore, in this paper, we propose a customized FP-Growth implementation tailored to the requirements of SPADE , which significantly accelerates pattern mining and result filtering. Our version allows for parallel and distributed execution, and due to the improvements made, an execution on heterogeneous and low-power embedded devices is now also possible. The implementation has been evaluated using a traditional workstation based on an Intel Broadwell Xeon E5-1650 v4 as a baseline. Furthermore, the heterogeneous microserver platform RECS|Box has been used for evaluating the implementation on two HiSilicon Hi1616 (Kunpeng 916), an Intel Coffee Lake-ER Xeon E-2276ME, an Intel Broadwell Xeon D-D1577, and three NVIDIA Tegra devices (Jetson AGX Xavier, Jetson Xavier NX, and Jetson TX2). Depending on the platform, our implementation is between 27 and 200 times faster than the original implementation. At the same time, the energy consumption was reduced by up to two orders of magnitude.

This paper is concerned with Field Programmable Gate Arrays (FPGA)-based systems for energy-efficient high-throughput string comparison. Modern applications which involve comparisons across large data sets—such as large sequence sets in molecular biology—are by their nature computationally intensive. In this work, we present a scalable FPGA-based system architecture to accelerate the comparison of binary strings. The current architecture supports arbitrary lengths in the range 16 to 2048-bit, covering a wide range of possible applications. In our example application, we consider DNA sequences embedded in a binary vector space through Locality Sensitive Hashing (LSH) one of several possible encodings that enable us to avoid more costly character-based operations. Here the resulting encoding is a 512-bit binary signature with comparisons based on the Hamming distance. In this approach, most of the load arises from the calculation of the O ( m ∗ n ) Hamming distances between the signatures, where m is the number of queries and n is the number of signatures contained in the database. Signature generation only needs to be performed once, and we do not consider it further, focusing instead on accelerating the signature comparisons. The proposed FPGA-based architecture is optimized for high-throughput using hundreds of computing elements, arranged in a systolic array. These core computing elements can be adapted to support other string comparison algorithms with little effort, while the other infrastructure stays the same. On a Xilinx Virtex UltraScale+ FPGA (XCVU9P-2), a peak throughput of 75.4 billion comparisons per second—of 512-bit signatures—was achieved, using a design with 384 parallel processing elements and a clock frequency of 200 MHz. This makes our FPGA design 86 times faster than a highly optimized CPU implementation. Compared to a GPU design, executed on an NVIDIA GTX1060, it performs nearly five times faster.

Previous research suggests that visual attention can be allocated to locations in space (space-based attention) and to objects (object-based attention). The cueing effects associated with space-based attention tend to be large and are found consistently across experiments. Object-based attention effects, however, are small and found less consistently across experiments. In three experiments we address the possibility that variability in object-based attention effects across studies reflects low incidence of such effects at the level of individual subjects. Experiment 1 measured space-based and object-based cueing effects for horizontal and vertical rectangles in 60 subjects comparing commonly used target detection and discrimination tasks. In Experiment 2 we ran another 120 subjects in a target discrimination task in which rectangle orientation varied between subjects. Using parametric statistical methods, we found object-based effects only for horizontal rectangles. Bootstrapping methods were used to measure effects in individual subjects. Significant space-based cueing effects were found in nearly all subjects in both experiments, across tasks and rectangle orientations. However, only a small number of subjects exhibited significant object-based cueing effects. Experiment 3 measured only object-based attention effects using another common paradigm and again, using bootstrapping, we found only a small number of subjects that exhibited significant object-based cueing effects. Our results show that object-based effects are more prevalent for horizontal rectangles, which is in accordance with the theory that attention may be allocated more easily along the horizontal meridian. The fact that so few individuals exhibit a significant object-based cueing effect presumably is why previous studies of this effect might have yielded inconsistent results. The results from the current study highlight the importance of considering individual subject data in addition to commonly used statistical methods.

Sahar Mansour and colleagues report alterations in the transcription factor GATA2 in eight pedigrees with Emberger disorder, which is characterized by primary lymphedema and predispositon to acute myeloid leukemia. Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2. We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.

De novo mutations in protein-coding genes are a well-established cause of developmental disorders 1 . However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations 1 , 2 . Here, to identify previously undescribed genes associated with developmental disorders, we integrate healthcare and research exome-sequence data from 31,058 parent–offspring trios of individuals with developmental disorders, and develop a simulation-based statistical test to identify gene-specific enrichment of de novo mutations. We identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders. Although we detected more genes associated with developmental disorders, much of the excess of de novo mutations in protein-coding genes remains unaccounted for. Modelling suggests that more than 1,000 genes associated with developmental disorders have not yet been described, many of which are likely to be less penetrant than the currently known genes. Research access to clinical diagnostic datasets will be critical for completing the map of genes associated with developmental disorders. By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

To evaluate patterns of rrHL after contemporary first-line treatment we studied 409 patients with first rrHL (HD13: n = 87, HD14: n = 118, HD15: n = 188, HDR3i: n = 51) at a median age of 37.4 years (18.4–76.8) from the GHSG database. Time to first relapse was ≤12 months in 49% and stage III/IV rrHL present in 52% of patients. In total, 291 patients received high-dose chemotherapy and autologous stem-cell transplantation (ASCT) and intended ASCT failed in 38 patients. ASCT was primarily not intended in 80 patients largely due to low risk disease or age/comorbidities. Overall, 10-year progression-free (PFS) and overall survival (OS) rates after first relapse were 48.2% (95% CI 41.9–54.2%) and 59.4% (95% CI 53.0–65.2%), respectively, with significant differences between subgroups. Inferior survival was observed with no ASCT due to advanced age/comorbidities (five-year PFS 36.2%, 95% CI 17.7–55.0%) or failure of salvage therapy (five-year PFS 36.3%, 95% CI 19.7–53.2%). Similarly, presence of primary refractory disease or stage IV at rrHL conferred inferior survival. In patients with low-risk disease, however, survival appeared favorable even without ASCT (10 y PFS 72.6%, 95% CI 53.7–84.8%). We herein confirm the curative potential of current rrHL treatments providing a robust benchmark to evaluate novel therapeutic strategies in rrHL. Approximately 50% of rrHL patients experienced a consecutive relapse.

III-V solid solutions are sensitive to growth conditions due to their stochastic nature. The highly crystalline thin films require a profound understanding of the material properties and reliable means of their determination. In this work, we have investigated the Raman spectral fingerprint of Al1−xScxN thin films with Sc concentrations x = 0, 0.14, 0.17, 0.23, 0.32, and 0.41, grown on Al2O3(0001) substrates. The spectra show softening and broadening of the modes related to the dominant wurtzite phase with increasing Sc content, in agreement with the corresponding XRD results. We investigated the primary scattering mechanism responsible for the immense modes’ linewidths by comparing the average grain sizes to the phonon correlation length, indicating that alloying augments the point defect density. The low-frequency Raman bands were attributed to the confined spherical acoustic modes in the co-forming ScN nanoparticles. Temperature-dependent Raman measurements enabled the temperature coefficient of the E2(high) mode to be determined for all Sc concentrations for the precise temperature monitoring in AlScN-based devices.

Microflora and contents of biogenic amines/polyamines and total volatile basic nitrogen (TVB-N) in 99 samples of bovine offal (red offal, n = 41 and other offal and mixes, n = 45) and wild game meat (n = 13) for raw meat-based diets (RMBD) for dogs were analyzed. Samples were bought in 11 local pet food shops and in one game-handling establishment in Austria (Lower Austria, Styria, and Vienna) in September and October 2022. Median contents (first and third quartiles in brackets) of cadaverine, histamine, tyramine, spermidine, and spermine were 20.7 [16.7; 28.6]; 25.4 [17.1; 47.2]; 18.9 [13.6; 38.9]; 15.2 [11.2; 21.2]; and 41.9 [50 mg/kg in 85.9% of samples, indicating the use of low-quality ingredients or inappropriate storage conditions. However, only 10.1% of samples were determined to be not compliant with a maximum amine content proposed for pet food. Median contents of the total aerobic bacteria counts (TACs), Pseudomonas, and Enterobacteriaceae were 7.4 [6.4; 8.0]; 6.5 [5.5; 7.7]; and 4.8 [3.9; 5.6] log CFU/g, respectively, with significantly lower counts in red offal RMBD (p < 0.05). TVB-N exceeded 150 mg/kg in 87.9% of samples. The TACs and Enterobacteriaceae numbers in red offal RMBD were comparable to those in food-grade red offal after 6 days of aerobic storage at 7 °C, i.e., temperatures higher than required for food-grade offal, but acceptable for animal by-products intended for RMBD production. In 80.8% of samples, numbers of Enterobacteriaceae exceeded the EU legal limit. From 12 of these samples, Salmonellae was able to be isolated, with counts from 0.03 MPN/g to 110 MPN/g. Salmonella enterica ser. Montevideo (n = 3), and S. enterica ser. Give and S. enterica ssp. Diarizonae (n = 2 each) were the most frequently isolated, while Listeria monocytogenes was rarely recovered (2%). Whilst exposure of humans handling such pet food can be reduced by hygiene precautions, the risk remains that dogs can acquire a feed-borne salmonellosis and shed the pathogen.

Background: Women with polycystic ovary syndrome (PCOS) are more prone to autoimmune thyroiditis, and both disorders lead to subfertility and pregnancy-related complications. The aim of this study was to investigate whether mothers with and without PCOS and their offspring have comparable thyroid parameters at term and how thyroid parameters are associated with perinatal outcome in this population. Methods: This cross-sectional observational study was performed in a single academic tertiary hospital in Austria. Seventy-nine pregnant women with PCOS and 354 pregnant women without PCOS were included. Blood samples were taken from the mother and cord blood at birth. Primary outcome parameters were maternal and neonatal thyroid parameters at delivery. Secondary outcome parameters were the composite complication rate per woman and per neonate. Results: Thyroid dysfunction was more prevalent among PCOS women (p < 0.001). At time of birth, free triiodothyronine (fT3) levels were significantly lower in PCOS than in non-PCOS women (p = 0.005). PCOS women and their neonates had significantly higher thyreoperoxidase antibody (TPO-AB) levels (p = 0.001). Women with elevated TPO-AB had a significantly higher prevalence of hypothyroidism (p < 0.001). There was a significant positive correlation between maternal and neonatal free thyroxine, fT3 and TPO-AB levels. There were no significant differences in thyroid parameters between women or neonates with or without complications. Conclusions: Our results demonstrate a higher prevalence of thyroid dysfunction and autoimmunity in PCOS women, supporting a common etiology of both disorders. We were not able to show an association between complication rate and thyroid parameters.

Evidence is accumulating that vitamin D may have beneficial effects on respiratory tract, autoimmune, neuro-degenerative, and mental diseases. The present umbrella review of systematic reviews (SRs) of cohort studies and randomised controlled trials (RCTs), plus single Mendelian randomisation studies aims to update current knowledge on the potential role of vitamin D in preventing and treating these extraskeletal diseases. Altogether, 73 SRs were identified. Observational data on primary prevention suggest an inverse association between vitamin D status and the risk of acute respiratory tract infections (ARI), dementia and cognitive decline, and depression, whereas studies regarding asthma, multiple sclerosis (MS), and type 1 diabetes mellitus (T1DM) are scarce. SRs of RCTs support observational data only for the risk of ARI. No respective RCTs are available for the prevention of chronic obstructive pulmonary disease (COPD), MS, and T1DM. SRs of RCTs indicate beneficial therapeutic effects in vitamin D-deficient patients with asthma and COPD, while effects on major depression and T1DM need to be further elucidated. Mendelian randomisation studies do not consistently support the results of SRs. Since several limitations of the included SRs and existing RCTs do not permit definitive conclusions regarding vitamin D and the selected diseases, further high-quality RCTs are warranted.