Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report

RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection. DIAGNOSIS: Homozygous FH (HoFH), CHD, and IHF. INTERVENTIONS: The patient has been treated with statin, ezetimibe, aspirin, and traditional heart failure (HF) medications. In addition, the beta-blocker was simultaneously administered. OUTCOMES: Genotypes of this proband indicated homozygous mutations of low-density lipoprotein receptor (LDLR) and some co-segregated mutations, such as von Willebrand factor (VWF) and fibroblast growth factor receptors. At 6-month follow-up, we found a decreased level of plasma lipid profile, in addition to a significant improvement in 6-minute walk distance and functional class. Echocardiography indicated nonsignificant improvements in the structure and function of the heart. LESSONS: This case report indicates that HoFH can lead to dramatically progressive endothelial damages and ventricular remodeling, severe atherosclerosis, even IHF. Genetic outcomes indicate IHF with HoFH could possibly result from LDLR mutations and some co-segregated mutations influencing endothelial function and cardiovascular remodeling. In a short-term follow-up, a combination of statins, ezetimibe, aspirin, and traditional HF agents is safe and effective for IHF with HoFH, and there is a need for further identification of drugs to ameliorate endothelial function and cardiovascular remodeling which may play an important role in long-term treatment

Multilevel Perception Boundary-guided Network for Breast Lesion Segmentation in Ultrasound Images

Automatic segmentation of breast tumors from the ultrasound images is essential for the subsequent clinical diagnosis and treatment plan. Although the existing deep learning-based methods have achieved significant progress in automatic segmentation of breast tumor, their performance on tumors with similar intensity to the normal tissues is still not pleasant, especially for the tumor boundaries. To address this issue, we propose a PBNet composed by a multilevel global perception module (MGPM) and a boundary guided module (BGM) to segment breast tumors from ultrasound images. Specifically, in MGPM, the long-range spatial dependence between the voxels in a single level feature maps are modeled, and then the multilevel semantic information is fused to promote the recognition ability of the model for non-enhanced tumors. In BGM, the tumor boundaries are extracted from the high-level semantic maps using the dilation and erosion effects of max pooling, such boundaries are then used to guide the fusion of low and high-level features. Moreover, to improve the segmentation performance for tumor boundaries, a multi-level boundary-enhanced segmentation (BS) loss is proposed. The extensive comparison experiments on both publicly available dataset and in-house dataset demonstrate that the proposed PBNet outperforms the state-of-the-art methods in terms of both qualitative visualization results and quantitative evaluation metrics, with the Dice score, Jaccard coefficient, Specificity and HD95 improved by 0.70%, 1.1%, 0.1% and 2.5% respectively. In addition, the ablation experiments validate that the proposed MGPM is indeed beneficial for distinguishing the non-enhanced tumors and the BGM as well as the BS loss are also helpful for refining the segmentation contours of the tumor.Comment: 12pages,5 figure

Consensus under Misaligned Orientations

This paper presents a consensus algorithm under misaligned orientations, which is defined as (i) misalignment to global coordinate frame of local coordinate frames, (ii) biases in control direction or sensing direction, or (iii) misaligned virtual global coordinate frames. After providing a mathematical formulation, we provide some sufficient conditions for consensus or for divergence. Besides the stability analysis, we also conduct some analysis for convergence characteristics in terms of locations of eigenvalues. Through a number of numerical simulations, we would attempt to understand the behaviors of misaligned consensus dynamics.Comment: 23 pages, 9 figure

Late Ordovician beachrock as a far-field indicator for glacial meltwater pulse

Understanding ancient climate changes is hampered by the inability to disentangle trends in continental ice volume from records of relative sea-level change. As a unique coastal deposit in tropical and subtropical regions, beachrock has been proved to be reliable for constraining the glacial meltwater signal and thus the total volume of land-based ice in Quaternary. However, beachrock is rarely recognized in the fossil record due to (a) the two-dimensional distribution of beach deposits, as opposed, for example, to extended platform sediments, and (b) the fact that specific environmental conditions are required in order to lithify sediments directly on the beach. By combining the stratigraphic architecture with petrography of characteristic carbonate cements, we demonstrate the first known occurrence of Ordovician beachrock in the Tarim Block, northwestern China. According to biostratigraphic data, a middle Katian (Upper Ordovician) palaeokarst surface is capped by carbonate conglomerate beachrock and this is suggesting a significant relative sea-level rise in late Katian. The beachrock can be correlated with widespread subaerial exposure surfaces and a pronounced stratigraphic gap within the Katian in northwestern Tarim. We suggest that the beachrock âfingerprintedâ a strong melt-water pulse in high latitudes after a short-lived Katian glaciation, which has not received much attention in scientific papers so far

Phytophthora Root Rot Resistance in Soybean E00003

Phytophthora root rot (PRR) is a devastating disease in soybean [Glycine max (L.) Merr.] production. Michigan elite soybean E00003 is resistant to Phytophthora sojae and has been used as a resistance source in breeding. Genetic control of PRR resistance in this source is unknown. To facilitate marker-assisted selection (MAS), the PRR resistance loci in E00003 and their map locations need to be determined. In this study, a genetic mapping approach was used to identify major PRR -resistant loci in E00003. The mapping population consists of 240 F4–derived lines developed by crossing E00003 with the P. sojae susceptible line PI 567543C. In 2009 and 2010, the mapping population was evaluated in the greenhouse for PRR resistance against P. sojae races 1, 4, and 7, using modified rice (Oryza sativa L.) grain inoculation method. The population was genotyped with seven simple sequence repeat (SSR) and three single nucleotide polymorphism (SNP) markers derived from bulk segregant analysis. The heritability of resistance in the population ranged from 83 to 94%. A major locus, contributing 50 to 76% of the phenotypic variation, was mapped within a 3 cM interval in the Rps1 region. The interval was further saturated with more BARCSOY SSRs and SNPs with TaqMan assays. Two SSRs and three SNPs within the Rps1k gene were highly associated with PRR resistance in the mapping population. The major resistance gene in E00003 is either allelic or tightly linked to Rps1k.The molecular markers located in the Rps1k gene can be used to improve MAS for PRR resistance

Identification and validation of candidate genes associated with domesticated and improved traits in soybean

Soybean, an important source of vegetable oils and proteins for humans, has undergone significant phenotypic changes during domestication and improvement. However, there is limited knowledge about genes related to these domesticated and improved traits, such as flowering time, seed development, alkaline-salt tolerance, and seed oil content (SOC). In this study, more than 106,000 single nucleotide polymorphisms (SNPs) were identified by restriction site associated DNA sequencing of 14 wild, 153 landrace, and 119 bred soybean accessions, and 198 candidate domestication regions (CDRs) were identified via multiple genetic diversity analyses. Of the 1489 candidate domestication genes (CDGs) within these CDRs, a total of 330 CDGs were related to the above four traits in the domestication, gene ontology (GO) enrichment, gene expression, and pathway analyses. Eighteen, 60, 66, and 10 of the 330 CDGs were significantly associated with the above four traits, respectively. Of 134 traitassociated CDGs, 29 overlapped with previous CDGs, 11 were consistent with candidate genes in previous trait association studies, and 66 were covered by the domesticated and improved quantitative trait loci or their adjacent regions, having six common CDGs, such as one functionally characterized gene Glyma15 g17480 (GmZTL3). Of the 68 seed size (SS) and SOC CDGs, 37 were further confirmed by gene expression analysis. In addition, eight genes were found to be related to artificial selection during modern breeding. Therefore, this study provides an integrated method for efficiently identifying CDGs and valuable information for domestication and genetic research

BioDeepTime : a database of biodiversity time series for modern and fossil assemblages

We thank the Paleosynthesis Project and the Volkswagen Stiftung for funding that supported this project (Az 96 796). M.C.R. acknowledges the German Research Foundation (DFG) for funding through the Cluster of Excellence ‘The Ocean Floor – Earth's Uncharted Interface’ (EXC 2077, grant no. 390741603). E.E.S. acknowledges funding from Leverhulme Trust grant RPG-201170, the Leverhulme Prize and the National Science Research Council grant NE/V011405/1. Q.J.L. and L.N. acknowledge support from the Youth Innovation Promotion Association (2019310) and the Chinese Academy of Sciences (CAS-WX2021SF-0205). A.M.P. acknowledges funding from the Leverhulme Trust through research grant RPG-2019-402. M.D. acknowledges funding from Leverhulme Trust through the Leverhulme Centre for Anthropocene Biodiversity (RC-2018-021) and a research grant (RPG-2019-402), and the European Union (ERC coralINT, 101044975). L. H. L. acknowledges funding from the European Research Council (macroevolution.abc ERC grant no. 724324). K.H.P acknowledges funding from the National Science Foundation Graduate Research Fellowship Program (DGE-2139841). H.H.M.H. acknowledges support from Peter Buck Postdoc Fellowship, Smithsonian Institution. A.T. acknowledges funding from the Slovak Research and Development Agency (APVV 22-0523) and the Slovak Scientific Grant Agency (VEGA 02/0106/23).Motivation We have little understanding of how communities respond to varying magnitudes and rates of environmental perturbations across temporal scales. BioDeepTime harmonizes assemblage time series of presence and abundance data to help facilitate investigations of community dynamics across timescales and the response of communities to natural and anthropogenic stressors. BioDeepTime includes time series of terrestrial and aquatic assemblages of varying spatial and temporal grain and extent from the present-day to millions of years ago. Main Types of Variables Included BioDeepTime currently contains 7,437,847 taxon records from 10,062 assemblage time series, each with a minimum of 10 time steps. Age constraints, sampling method, environment and taxonomic scope are provided for each time series. Spatial Location and Grain The database includes 8752 unique sampling locations from freshwater, marine and terrestrial ecosystems. Spatial grain represented by individual samples varies from quadrats on the order of several cm2 to grid cells of ~100 km2. Time Period and Grain BioDeepTime in aggregate currently spans the last 451?million years, with the 10,062 modern and fossil assemblage time series ranging in extent from years to millions of years. The median extent of modern time series is 18.7?years and for fossil series is 54,872?years. Temporal grain, the time encompassed by individual samples, ranges from days to tens of thousands of years. Major Taxa and Level of Measurement The database contains information on 28,777 unique taxa with 4,769,789 records at the species level and another 271,218 records known to the genus level, including time series of benthic and planktonic foraminifera, coccolithophores, diatoms, ostracods, plants (pollen), radiolarians and other invertebrates and vertebrates. There are to date 7012 modern and 3050 fossil time series in BioDeepTime. Software Format SQLite, Comma-separated values.Publisher PDFPeer reviewe