Gastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an ...important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.
Evaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.
Cohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.
Eight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).
Although currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*) have been associated with family aggregation of abdominal tumors in NF1 patients.
Specific microRNA (miRNA) signatures have been associated with different cytogenetic subtypes in acute leukemias. This finding prompted us to investigate potential associations between genetic ...abnormalities in multiple myeloma (MM) and singular miRNA expression profiles. Moreover, global gene expression profiling was also analyzed to find correlated miRNA gene expression and select miRNA target genes that show such correlation. For this purpose, we analyzed the expression level of 365 miRNAs and the gene expression profiling in 60 newly diagnosed MM patients, selected to represent the most relevant recurrent genetic abnormalities. Supervised analysis showed significantly deregulated miRNAs in the different cytogenetic subtypes as compared with normal PC. It is interesting to note that miR-1 and miR-133a clustered on the same chromosomal loci, were specifically overexpressed in the cases with t(14;16). The analysis of the relationship between miRNA expression and their respective target genes showed a conserved inverse correlation between several miRNAs deregulated in MM cells and CCND2 expression level. These results illustrate, for the first time, that miRNA expression pattern in MM is associated with genetic abnormalities, and that the correlation of the expression profile of miRNA and their putative mRNA targets is useful to find statistically significant protein-coding genes in MM pathogenesis associated with changes in specific miRNAs.
Throughout coastal Antarctica, ice shelves separate oceanic waters from sunlight by hundreds of meters of ice. Historical studies have detected activity of nitrifying microorganisms in oceanic ...cavities below permanent ice shelves. However, little is known about the microbial composition and pathways that mediate these activities. In this study, we profiled the microbial communities beneath the Ross Ice Shelf using a multi-omics approach. Overall, beneath-shelf microorganisms are of comparable abundance and diversity, though distinct composition, relative to those in the open meso- and bathypelagic ocean. Production of new organic carbon is likely driven by aerobic lithoautotrophic archaea and bacteria that can use ammonium, nitrite, and sulfur compounds as electron donors. Also enriched were aerobic organoheterotrophic bacteria capable of degrading complex organic carbon substrates, likely derived from in situ fixed carbon and potentially refractory organic matter laterally advected by the below-shelf waters. Altogether, these findings uncover a taxonomically distinct microbial community potentially adapted to a highly oligotrophic marine environment and suggest that ocean cavity waters are primarily chemosynthetically-driven systems.
The use of microwave assisted extraction (MAE) was investigated in this work for the extraction of betalains from diced red beets. Several treatments with different combinations of time, power and ...duty cycle applied to the samples were studied. The combination of 400 W and 100% duty cycle for 90–120 s resulted in the highest amount of recovered betanines; whereas at 140–150 s the highest amount of betaxanthins was obtained. The addition of ascorbic acid (0.040 mol/L) to the extracting solvent and the development of a two-step MAE process with a cooling period in-between and after processing steps led to an enhancement in the amount of pigments obtained. The effect of extraction time at each extraction step on betalains yield was determined by applying a factorial design and surface plots were constructed. The duration of the second step significantly affected the yield of betanines and betaxanthins obtained (p < 0.05). A prediction model was proposed and validated to meet the optimal extraction times. Betalain yields obtained by MAE were twice as high as those obtained during conventional extraction and conventional extraction at 80 °C.
•Microwave-Assisted Extraction (MAE) is an efficient technology for betalain extraction.•Yields obtained after 2 min of MAE were comparable to conventional leaching for 20 min.•At equivalent times, MAE yield was 5-fold greater than conventional leaching yield.
Vascular contributions to cognitive impairment and dementia (VCID) are characterized by the aging neurovascular unit being confronted with and failing to cope with biological insults due to systemic ...and cerebral vascular disease, proteinopathy including Alzheimer's biology, metabolic disease, or immune response, resulting in cognitive decline. This report summarizes the discussion and recommendations from a working group convened by the National Heart, Lung, and Blood Institute and the National Institute of Neurological Disorders and Stroke to evaluate the state of the field in VCID research, identify research priorities, and foster collaborations. As discussed in this report, advances in understanding the biological mechanisms of VCID across the wide spectrum of pathologies, chronic systemic comorbidities, and other risk factors may lead to potential prevention and new treatment strategies to decrease the burden of dementia. Better understanding of the social determinants of health that affect risks for both vascular disease and VCID could provide insight into strategies to reduce racial and ethnic disparities in VCID.
Abstract
The latest High Altitude Water Cherenkov (HAWC) point-like source catalog up to 56 TeV reported the detection of two sources in the region of the Galactic plane at galactic longitude 52° <
ℓ
...< 55°, 3HWC J1930+188 and 3HWC J1928+178. The first one is associated with a known TeV source, the supernova remnant SNR G054.1+00.3. It was discovered by one of the currently operating Imaging Atmospheric Cherenkov Telescope (IACT), the Very Energetic Radiation Imaging Telescope Array System (VERITAS), detected by the High Energy Stereoscopic System (H.E.S.S), and identified as a composite SNR. However, the source 3HWC J1928+178, discovered by HAWC and coincident with the pulsar PSR J1928+1746, was not detected by any IACT despite their long exposure on the region, until a recent new analysis of H.E.S.S. data was able to confirm it. Moreover, no X-ray counterpart has been detected from this pulsar. We present a multicomponent fit of this region using the latest HAWC data. This reveals an additional new source, HAWC J1932+192, which is potentially associated with the pulsar PSR J1932+1916, whose
γ
-ray emission could come from the acceleration of particles in its pulsar wind nebula. In the case of 3HWC J1928+178, several possible explanations are explored, in an attempt to unveil the origins of the very-high-energy
γ
-ray emission.
We analyze the impact of QCD corrections on limits derived from neutrinoless double beta decay (0νββ). As demonstrated previously, the effect of the color mismatch arising from loops with gluons ...linking the quarks from different color-singlet currents participating in the effective operators has a dramatic impact on the predictions for some particular Wilson coefficients. Here, we consider all possible contributions from heavy particle exchange, i.e. the so-called short-range mechanism of 0νββ decay. All high-scale models (HSM) in this class match at some scale around a ∼ few TeV with the corresponding effective theory, containing a certain set of effective dimension-9 operators. Many of these HSM receive contributions from more than one of the basic operators and we calculate limits on these models using the latest experimental data. We also show with one nontrivial example, how to derive limits on more complicated models, in which many different Feynman diagrams contribute to 0νββ decay, using our general method.
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