Limb development genes underlie variation in human fingerprint patterns

Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized “pattern-block” correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice. Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits, rather than influencing skin patterning directly. Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, with nearby genes being strongly enriched for general limb development pathways. We also found that fingerprint patterns were genetically correlated with hand proportions. Taken together, these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning

A global reference for human genetic variation

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies

Multiple uremic tumoral calcinosis in periarticular soft tissues with chronic renal failure: a case report

Uremic tumoral calcinosis (UTC) is an uncommon and severe complication of hemodialysis therapy. The most important pathogenic factor involved in UTC is an increase in calcium-phosphorus products. We report here a patient undergoing hemodialysis for renal failure caused by hypertensive nephropathy who presented multiple UTCs in the right shoulder, left elbow and wrist. After surgical excision, they all recurred, with a similar UTC in the left shoulder. By observing the imaging features of various imaging examinations during the whole period of this case, including X-ray, computed tomography (CT), magnetic resonance imaging (MRI), and single-photon emission computed tomography (SPECT), we highlight the importance of imaging for evaluating the state of UTC regarding treatment options, further deepening our understanding of the imaging manifestations for this disease and their clinical significance

MoCoB metallic glass microwire catalysts for highly efficient and pH-universal degradation of wastewater

Abstract One important goal of the current Fenton-like catalysts is to develop highly efficient and pH-universal catalysts that can operate with little performance degradation over multiple recycles. Herein, we report a ternary MoCoB metallic glass (MG) microwire catalyst, which shows exceptional Fenton-like activity for degrading various dyes in a wide pH range (5–10). Moreover, the MoCoB MG catalyst with an ultrahigh glass-transition temperature of 1002 K exhibits excellent reusability and can be used for more than 46 times without a decay in efficiency. It is regarded that the excellent catalytic activity and sustainability of the MoCoB MG catalyst originates from the bimetallic effect involving Mo n /Mo n+1 and Co n+1/Co n cycling, which accelerates the electronic transfer kinetics, enabling the generation of multiple reactive oxygen species (•OH and •O2 -). First-Principles Calculations revealed again that MG catalysts provide a large electron base for the whole catalytic process

Low expression of centrosomal protein 78 (CEP78) is associated with poor prognosis of colorectal cancer patients

Abstract Background Centrosomal protein 78 (CEP78) has been characterized as a component of the centrosome required for the regulation of centrosome-related events during the cell cycle, but its role in human cancers remains unclear. This study aimed to investigate the role and the clinical value of CEP78 in colorectal cancer (CRC). Methods Quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry were performed to examine CEP78 expression in CRC tissues and adjacent noncancerous tissues. The association between CEP78 expression and clinical outcomes of CRC patients was determined. The effect of CEP78 on cell growth was examined in vitro by 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2-H-tetrazolium bromide (MTT) assay, colony formation, and flow cytometry assays and in vivo using a nude mouse model. Results The expression level of CEP78 was significantly lower in tumor tissues than in the adjacent normal tissues (P < 0.01). Low CEP78 expression was significantly associated with poor differentiation (P = 0.003), large tumor size (P = 0.017), lymphatic metastasis (P = 0.034), distant metastasis (P = 0.029), and advanced stage (P = 0.011). Kaplan–Meier analysis indicated that patients with low CEP78 expression had shorter survival than those with high CEP78 expression (P < 0.01). Overexpression of CEP78 in CRC cells significantly reduced cell viability and colony formation in vitro and halted tumor growth in vivo. Further study showed that CEP78 reintroduction in CRC cells resulted in G2/M phase arrest rather than cell apoptosis. Conclusions CEP78 might function as a tumor suppressor and serve as a novel prognostic marker in CRC

Visual and rapid detection of Acinetobacter baumannii by a multiple cross displacement amplification combined with nanoparticles-based biosensor assay

Abstract The traditional microbiological methods used for detecting Acinetobacter baumannii were usually time-consuming and labor-intensive. Thus, we sought to establish a novel rapid detecting method for target pathogen. A set of multiple cross displacement amplification (MCDA) primers was designed to recognize 10 different regions of the pgaD gene, which was conservative and specific for the bacterium. In the MCDA system, amplification primers D1 and R1 were 5′-labeled with FITC (fluorescein) and biotin, respectively. Numerous FITC- and biotin-attached duplex amplicons were formed during the amplification stage, which were detected by nanoparticles-based lateral flow biosensors (LFB) through immunoreactions (FITC on the duplex and anti-FITC on the LFB test line) and biotin/streptavidin interaction (biotin on the duplex and streptavidin on the nanoparticles). The results showed that the optimized reaction condition of MCDA-LFB method was 62 °C within 25 min. There was no cross reaction with non-A. baumannii species and the non-Acinetobacter genera, and the detection limit for DNA samples was 100 fg/reaction. For 135 sputum samples, the detection results showed that the detection ability of MCDA-LFB assay was superior to the culture methods and conventional PCR. Therefore, MCDA-LFB assay could be a potential tool for the rapid detection of A. baumannii in clinical samples and low resource areas

Water-based fluorescent paint: Presenting a novel approach to study and solve the aggregation caused quench (ACQ) effect in traditional fluorescent materials

The aggregation caused quench (ACQ) effect in traditional fluorescent molecules can lead to a significant fluorescent intensity decrease of fluorescent-based materials during aggregation or at solid state, which apparently limits their application. To overcome this effect, in this paper, a series of water-based fluorescent paints doped with rhodamine B were synthesized and systematically characterized using photoluminescence (PL) spectrum and other analytical methods Rhodamine B was employed because it can be adsorbed onto the shell of latex by ionic attraction force during emulsion polymerization, and hence its aggregation trends can be inhibited, thus emitting fluorescent light effectively. To explore this phenomenon, a series of characterizations were employed. Firstly, the different emulsion polymerization processes, such as cationic emulsion polymerization and anionic emulsion polymerization of the systems were studied with real-time monitoring according to PL spectrum. Secondly, the factors that affect the luminescence behavior of the fluorescent latexes were studied systematically by varying the different conditions, such as the dispersing forms of rhodamine B, the concentration of rhodamine B and the latex particles, the size, and glass transition temperature of latex particles. Lastly, the relationship between the fluorescence property of the cured fluorescent latex and the testing temperatures were also studied. The research findings herein not only reports a way to inhibit the ACQ effect of traditional fluorescent molecules, but also are predicted to be beneficial to the development of the environment-friendly smart coatings