32 research outputs found

    Limb development genes underlie variation in human fingerprint patterns

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    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

    Measurement and evaluation of indoor air quality in naturally ventilated residential buildings

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    This paper presents the field measurement and evaluation of the indoor air quality of 25 naturally ventilated residential buildings in northwestern China. Concentrations of formaldehyde, benzene, toluene, total volatile organic compounds, nitrogen dioxide and PM2.5, and air infiltration rate were measured in the bedroom, living room and kitchen of each building in different seasons. The results show that the concentration of formaldehyde can be used as a representative index of indoor gaseous pollutants, and that formaldehyde concentrations in various locations measured were highest in spring and lowest in autumn. PM2.5 concentration was the most important influencing factor of indoor air quality in winter, and concentration of outdoor PM2.5 was the key factor under hazy weather conditions. The median air infiltration rate was around 0.35 h-1 in bedrooms and 0.8 h-1 in kitchens, and these should be increased to 0.66 h-1 and 1.6 h-1 , respectively, to provide acceptable indoor air quality in northwestern China. The findings obtained from this study can be used to understand where and how to improve the indoor air quality of naturally ventilated buildings in northwestern China. The data can also contribute to the development of a national database for improving residential ventilation, energy efficiency and indoor air quality

    Identification of DNA methylation prognostic signature of acute myelocytic leukemia.

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    BACKGROUND:The aim of this study is to find the potential survival related DNA methylation signature capable of predicting survival time for acute myelocytic leukemia (AML) patients. METHODS:DNA methylation data were downloaded. DNA methylation signature was identified in the training group, and subsequently validated in an independent validation group. The overall survival of DNA methylation signature was performed. Functional analysis was used to explore the function of corresponding genes of DNA methylation signature. Differentially methylated sites and CpG islands were also identified in poor-risk group. RESULTS:A DNA methylation signature involving 8 DNA methylation sites and 6 genes were identified. Functional analysis showed that protein binding and cytoplasm were the only two enriched Gene Ontology terms. A total of 70 differentially methylated sites and 6 differentially methylated CpG islands were identified in poor-risk group. CONCLUSIONS:The identified survival related DNA methylation signature adds to the prognostic value of AML

    Characteristics of outdoor pollutants intrusion and ventilation control in sentry buildings with normal openings

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    Sentry buildings have windows that are often open to facilitate communication between personnel. It also provides the possibility for the intrusion of pollutants such as vehicle exhaust emissions. To prevent the intrusion of outdoor pollutants and create an excellent indoor environment, internal circulation with double-attached ventilation (IC-DAV) and external circulation with double-attached ventilation (EC-DAV) are proposed for such buildings, and the isolation effect of two attached ventilation modes on pollutants is compared with that of natural ventilation. A computational fluid dynamics (CFD) method was used to simulate the transportation process and indoor distribution of outdoor pollutants intruding into sentry buildings from the regular openings under different outdoor wind directions, wind velocities, and states of the doors and ventilation modes. The results indicate that the leeward airflow of the three wind directions caused the largest pollutants to invade the room. The amount of pollutants intrusion increased with increasing wind velocity. When the leeward airflow and the windward airflow blow through the building, opening the door increased the amount of pollutants intruding into the room by 3.34 times and 8.85 times, respectively, compared with closing the door. However, the IC-DAV can isolate 81.7% of the pollutants while the EC-DAV can isolate 99.92% of the pollutants as compared with natural ventilation. Applying double attached ventilation mode in buildings can effectively prevent the intrusion of outdoor pollutants into the room, reduce the harm of outdoor pollutants to the health of indoor personnel, and provide a new idea for buildings to improve the indoor air quality

    RNA-Seq Analysis Reveals a Positive Role of HTR2A in Adipogenesis in Yan Yellow Cattle

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    In this study, we performed high throughput RNA sequencing at the primary bovine preadipocyte (Day-0), mid-differentiation (Day-4), and differentiated adipocyte (Day-9) stages in order to characterize the transcriptional events regulating differentiation and function. The preadipocytes were isolated from subcutaneous fetal bovine adipose tissues and were differentiated into mature adipocytes. The adipogenic characteristics of the adipocytes were detected during various stages of adipogenesis (Day-0, Day-4, and Day-9). We used RNA sequencing (RNA-seq) to investigate a comprehensive transcriptome information of adipocytic differentiation. Compared to the pre-differentiation stage (Day-0), 2510 genes were identified as differentially expressed genes (DEGs) at the mid-differentiation stage (Day-4). We found 2446 DEGs in the mature adipocytic stage relative to the mid-differentiation stage. Some adipogenesis-related transcription factors, CCAAT-enhancer-binding protein α (C/EBPα) and peroxisome proliferator-activated receptor γ (PPARγ) were differentially expressed at Day-0, Day-4, and Day-9. We further investigated the adipogenic function of 5-hydroxytryptamine receptor 2A (HTR2A) in adipogenesis. Overexpression of HTR2A stimulated the differentiation of preadipocytes, and knockdown of HTR2A had opposite effects. Furthermore, functional enrichment analysis of DEGs revealed that the PI3K-Akt signaling pathway was the significantly enriched pathway, and HTR2A regulated adipogenesis by activating or inhibiting phosphorylation of phospho-AKT (Ser473). In summary, the present study provides the first comparative transcription of various periods of adipocytes in cattle, which presents a solid foundation for further study into the molecular mechanism of fat deposition and the improvement of beef quality in cattle

    Research on airflow convergence patterns and air distribution characteristics under multi-column attachment ventilation

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    Multi-column attachment ventilation (M-CAV) is usually delivered to the occupied zone by floor-attached airflows in large spaces. However, after the floor-attached airflow converges, the original air distribution will change, which will have an important impact on the traditional air distribution design. In this paper, airflow convergence patterns and air distribution characteristics in the most common double-column and tri-column layouts are studied by experiments and computational fluid dynamics (CFD) simulations. A 1:3 scaled-down model was established for velocity experiments and flow field visualization, and the results were used to verify and optimize the CFD model. The results indicated a seagull-like convergence flow pattern under the symmetric double-column layout. Under the axisymmetric layout with different column spacings, the floor-attached airflow in the half-open air outlet mode exhibited full convergence with the merging point (point MP) and combined point (point CP), partial convergence with point MP, and non-convergence without point MP and point CP. Under the centrosymmetric layout, an M-shaped velocity distribution was formed, and no airflow converged. For equal-velocity conditions, the dimensionless convergence axial velocity distributions for different air supply velocities was approximately consistent. In the fully-open air outlet mode, the floor-attached airflow could be divided into the collision-dominated region, the combined collision and convergence-dominated region, and the convergence-dominated region based on the forms of airflow interaction. For unequal-velocity conditions, the high-velocity airflow restricted the diffusion of the low-velocity airflow

    Clinical Features and Treatment Outcomes of Chronic Nonbacterial Osteomyelitis in Children: A Multicenter Study in China

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    Objective  To investigate the clinical features and treatment outcomes of chronic non-bacterial osteomyelitis (CNO) from five tertiary pediatric rheumatology services in China and provide possible treatment options for clinicians.  Methods  In this multicenter, retrospective study, pediatric patients diagnosed with CNO in Children's Hospital of Fudan University, Peking Union Medical College Hospital, Children's Hospital of Nanjing Medical University, Children's Hospital of Chongqing Medical University and the First Hospital of Jilin University from March 2014 to August 2022 were included. According to the treatment plan, the patients were divided into nonsteroidal anti-inflammatory drugs (NSAID) group, traditional disease modifying anti-rheumatic drugs (DMARD) group, tumor necrosis factor inhibitor (TNF-i) group, bisphosphonate group, and bisphosphonate+TNF-i group, and physician global assessment score was used to evaluate the efficacy.  Results  Retrospective data analysis showed that the disease was more common in boy sthan girls(31 vs. 27), and the average age at onset of symptoms was 8.5±3.4 years, the mean age of diagnosis was 9.8±3.2 years, and the Median follow-up was 10.9(5.0, 30.1) months. A total of 46 cases (79.3%) were diagnosed in the last 3 years. Bone pain and / or arthralgia was the predominant symptom in 54(93.1%) patients followed by fever in 31(53.4%) patients. Raised inflammatory markers (ESR and CRP) were present in 87.9% and 77.6% of the patients. The most frequently affected bones were lower limb bones, including 42 cases of femur and 41 cases of tibia; 3 patients had compression fractures of the vertebrae at the time of diagnosis. Bone biopsy was conducted in 33 cases, and subacute or chronic osteomyelitis manifested with inflammatory cells infiltration were detected. The remission rate was not statistically different between treatment groups (P=0.562), with the remission rate at 11 months in the bisphosphonate+TNF-i group being 60.0%, 55.6% and 33.3% in the NSAID and DMARD groups respectively; 66.7% and 52.4% in the NSAID and TNF-i groups respectively at 12 months. A total of 40 patients were followed up for ≥6 months, with the remission rate of 81.3%.  Conclusions  Our multicenter study describes the features and outcomes of CNO patients in China. The characteristics of CNO children from multiple centers in China were lack of specificity. Bone pain and/or arthralgia were the main clinical symptoms, accompanied by fever, normal white blood cells, and raised inflammatory markers (CRP and/or ESR). Although anti-inflammatory treatment regimens were different, the efficacy of the treatment groups was similar. Anti-inflammatory therapy is currently the first choice

    Numerical investigation on air distribution characteristics and effect of the outlet opening mode on cross-shaped column attachment ventilation

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    The conventional (square and circular) column attachment ventilation theory has been developed for many years. However, it is still unclear whether the cross-shaped column can be effectively applied to column attachment ventilation. This paper compared three column attachment ventilation models (i.e., circular, square and cross-shaped) by numerical simulation and experimental methods, the latter of which were mainly employed to verify and optimize the CFD model. The air distribution of these three ventilation models was studied in isothermal mode. Five cross-shaped column air supply outlet opening modes under cooling conditions were proposed, and their effects on the thermal environment distribution in the occupied zone were investigated. The intersection of the two attached airflows in the inner concave surface of the cross-shaped column changed the trends of the axial velocity variation. The attached airflow created a larger impinging zone near the internal corner of the cross-shaped column compared with the other surfaces. With the fixed air supply parameters, the kinetic energy loss at the column bottom under cross-shaped column attachment ventilation (CS-CAV) increased by approximately 60 % compared with that under square column attachment ventilation (S-CAV). CS-CAV is not only an effective ventilation method but can also meet the comfort needs of different occupied zones, providing a design basis for CS-CAV in buildings

    Kaplan-Meier curves showing AML patients dichotomized based on risk score in the training group.

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    <p>High risk is defined as a risk score ≥ the median, and low risk is defined as a risk score < the median in the training group.</p
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