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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism:

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《医学前沿（英文）》 2018年第12卷第3期页码 319-323 doi: 10.1007/s11684-017-0553-4

摘要：

Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.

关键词： antithrombin deficiency protein C activity mutation variant venous thromboembolism anticoagulants

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Prevalence of vitamin D deficiency in girls with idiopathic central precocious puberty

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《医学前沿（英文）》 2018年第12卷第2期页码 174-181 doi: 10.1007/s11684-017-0544-5

摘要：

The relationship between vitamin D deficiency and idiopathic central precocious puberty (ICPP) has been recently documented. In this study, 280 girls diagnosed with ICPP and 188 normal puberty control girls of similar ages were enrolled and retrospectively studied. The ICPP group had significantly lower serum 25-hydroxyvitamin D (25[OH]D) levels than the control group. Furthermore, a nonlinear relationship was found between serum 25[OH]D and ICPP, and a cut-off point for serum 25[OH]D was found at 31.8 ng/ml for ICPP with and without adjusting the different confounding factors. Girls with serum 25[OH]D≥31.8 ng/ml had a lower odds ratio (unadjusted: OR 0.36, 95% CI 0.15 to 0.83, <0.05; height and weight adjusted: OR 0.44, 95% CI 0.18 to 1.08, = 0.072; BMI adjusted: OR 0.36, 95% CI 0.16 to 0.84, <0.05). The ICPP subjects with 25[OH]D deficiency had a higher body mass index (BMI) than the subjects from the two other subgroups. Correlation analysis showed that vitamin D level is correlated with BMI and some metabolic parameters in the ICPP group. Our study suggested that vitamin D status may be associated with ICPP risk and may have a threshold effect on ICPP.

关键词： idiopathic central precocious puberty threshold effects vitamin D status

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Chinmedomics facilitated quality-marker discovery of Sijunzi decoction to treat spleen qi deficiency

Qiqi Zhao, Xin Gao, Guangli Yan, Aihua Zhang, Hui Sun, Ying Han, Wenxiu Li, Liang Liu, Xijun Wang

《医学前沿（英文）》 2020年第14卷第3期页码 335-356 doi: 10.1007/s11684-019-0705-9

摘要： Sijunzi decoction (SJZD) is a Chinese classical formula to treat spleen qi deficiency syndrome (SQDS) and has been widely used for thousands of years. However, the quality control (QC) standards of SJZD are insufficient. Chinmedomics has been designed to discover and verify bioactive compounds of a variety of formula rapidly. In this study, we used Chinmedomics to evaluate the SJZD’s efficacy against SQDS to discover the potential quality-markers (q-markers) for QC. A total of 56 compounds in SJZD were characterized , and 23 compounds were discovered . A total of 58 biomarkers were related to SQDS, and SJZD can adjust a large proportion of marker metabolites to normal level and then regulate the metabolic profile to the health status. A total of 10 constituents were absorbed as effective ingredients that were associated with overall efficacy. We preliminarily determined malonyl-ginsenoside Rb2 and ginsenoside Ro as the q-markers of ginseng; dehydrotumulosic acid and dihydroxy lanostene-triene-21-acid as the q-markers of poria; glycyrrhizic acid, isoglabrolide, and glycyrrhetnic acid as the q-markers of licorice; and 2-atractylenolide as the q-marker of macrocephala. According to the discovery of the SJZD q-markers, we can establish the quality standard that is related to efficacy.

关键词： traditional Chinese medicine Sijunzi decoction spleen qi deficiency syndrome Chinmedomics quality-marker

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Rdh13 deficiency weakens carbon tetrachloride-induced liver injury by regulating Spot14 and Cyp2e1 expression

Xiaofang Cui, Benting Ma, Yan Wang, Yan Chen, Chunling Shen, Ying Kuang, Jian Fei, Lungen Lu, Zhugang Wang

《医学前沿（英文）》 2019年第13卷第1期页码 104-111 doi: 10.1007/s11684-017-0568-x

摘要： Mitochondrion-localized retinol dehydrogenase 13 (Rdh13) is a short-chain dehydrogenase/reductase involved in vitamin A metabolism in both humans and mice. We previously generated knockout mice and showed that Rdh13 deficiency causes severe acute retinal light damage. In this study, considering that Rdh13 is highly expressed in mouse liver, we further evaluated the potential effect of Rdh13 on liver injury induced by carbon tetrachloride (CCl ). Although Rdh13 deficiency showed no significant effect on liver histology and physiological functions under regular culture, the mice displayed an attenuated response to CCl -induced liver injury. Their livers also exhibited less histological changes and contained lower levels of liver-related metabolism enzymes compared with the livers of wild-type (WT) mice. Furthermore, the mice had Rdh13 deficiency and thus their liver cells were protected from apoptosis, and the quantity of their proliferative cells became lower than that in WT after CCl exposure. The ablation of gene decreased the expression levels of thyroid hormone-inducible nuclear protein 14 (Spot14) and cytochrome P450 (Cyp2e1) in the liver, especially after CCl treatment for 48 h. These data suggested that the alleviated liver damage induced by CCl in mice was caused by Cyp2e1 enzymes, which promoted reductive CCl metabolism by altering the status of thyroxine metabolism. This result further implicated Rdh13 as a potential drug target in preventing chemically induced liver injury.

关键词： retinol dehydrogenase 13 carbon tetrachloride acute liver injury Cyp2e1 Spot14

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The rpoS deficiency suppresses acetate accumulation in glucose-enriched culture of <

Prayoga SURYADARMA, Yoshihiro OJIMA, Yuto FUKUDA, Naohiro AKAMATSU, Masahito TAYA

《化学科学与工程前沿（英文）》 2012年第6卷第2期页码 152-157 doi: 10.1007/s11705-012-1287-0

摘要： The role of on the central carbon metabolism was investigated through analyzing the deficiency of this regulon gene under aerobic and glucose-enriched culture conditions. The experimental results showed that while the wild type cells exhibited an overflow metabolism effect, the -deleting mutation alleviated this effect with the significant suppression of acetate accumulation under a high glucose condition. This gene deletion also induced the twofold upregulation of and one-tenth downregulation of , respectively. The overflow metabolism effect was confirmed to be recovered by re-introducing gene into the mutant. These results demonstrated changed the central carbon metabolism toward acetate overflow through dehydrogenation of pyruvate and reduction of TCA cycle activity.

关键词： Escherichia coli rpoS aerobic and glucose-enriched culture overflow metabolism

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Uncertainty of concrete strength in shear and flexural behavior of beams using lattice modeling

《结构与土木工程前沿（英文）》页码 306-325 doi: 10.1007/s11709-022-0890-5

摘要： This paper numerically studied the effect of uncertainty and random distribution of concrete strength in beams failing in shear and flexure using lattice modeling, which is suitable for statistical analysis. The independent variables of this study included the level of strength reduction and the number of members with reduced strength. Three levels of material deficiency (i.e., 10%, 20%, 30%) were randomly introduced to 5%, 10%, 15%, and 20% of members. To provide a database and reliable results, 1000 analyses were carried out (a total of 24000 analyses) using the MATLAB software for each combination. Comparative studies were conducted for both shear- and flexure-deficit beams under four-point loading and results were compared using finite element software where relevant. Capability of lattice modeling was highlighted as an efficient tool to account for uncertainty in statistical studies. Results showed that the number of deficient members had a more significant effect on beam capacity compared to the level of strength deficiency. The scatter of random load-capacities was higher in flexure (range: 0.680–0.990) than that of shear (range: 0.795–0.996). Finally, nonlinear regression relationships were established with coefficient of correlation values (R²) above 0.90, which captured the overall load–deflection response and level of load reduction.

关键词： lattice modeling shear failure flexural failure uncertainty deficiency numerical simulation

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Mechanisms of “kidney governing bones” theory in traditional Chinese medicine

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《医学前沿（英文）》 2014年第8卷第3期页码 389-393 doi: 10.1007/s11684-014-0362-y

摘要：

Studies conducted by our group on the mechanism of “kidney governing bones” theory in traditional Chinese medicine (TCM) are reviewed in this paper. Conclusions can be summarized as follows. (1) Neuroendocrine-immune network (NIN)-osteoclast regulatory pathway OPG-RANKL-RANK is one of the mechanisms of “kidney governing bones.” Although kidney-reinforcing therapy is regarded as one of the holistic regulatory mechanisms of the body, characteristic holistic regulation in TCM can be reflected through nonselective regulation of the NIN during kidney reinforcement therapy, which can be used to treat osteoporosis through microadjustments in the microenvironment of the bone marrow. (2) Marrow exhaustion in TCM, which is the state wherein lipocytes in the bone marrow increase whereas other cells decrease, serves as the pathogenesis of osteoporosis brought about by failure of the “kidney governing bones.” (3) The kidney in TCM can be regarded as a complex system comprising multiple functional units in the body, including the unit “governing bones.” Kidney deficiency refers to a deficiency in only one or more units of the kidney system and not the whole system itself, which explains the kidney-reinforcing effect of many herbs; some herbs can treat osteoporosis, but some cannot. Although both classified as kidney-reinforcing agents, the former can resolve failure of the “kidney governing bones” unit while the latter regulates the failure of other units in the kidney system. Despite the current understanding on “kidney governing bones” theory, the mechanism of “kidney governing bones” remains complicated and unresolved. Thus, further studies in this area are warranted.

关键词： kidney governing bones kidney deficiency marrow osteoporosis neuroendocrine-immune network osteoclast regulatory pathway

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Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit

Anqi Chen, Suhua Zhang, Jixi Li, Chaoneng Ji, Jinzhong Chen, Chengtao Li

《医学前沿（英文）》 2020年第14卷第1期页码 101-111 doi: 10.1007/s11684-019-0698-4

摘要： Growing evidence suggests that somatic hypermutational status and programmed cell death-1 overexpression are potential predictive biomarkers indicating treatment benefits from immunotherapy using immune checkpoint inhibitors. However, biomarker-matched trials are still limited, and many of the genomic alterations remain difficult to target. To isolate the potential somatic hypermutational tumor from microsatellite instability low/microsatellite stability (MSI-L/MSS) cases, we employed two commercial kits to determine MSI and forensic short tandem repeat (STR) alternations in 250 gastrointestinal (GI) tumors. Three types of forensic STR alternations, namely, allelic loss, Aadd, and Anew, were identified. 62.4% (156/250) of the patients with GI exhibited STR alternation, including 100% (15/15) and 60% (141/235) of the microsatellite high instability and MSI-L/MSS cases, respectively. 30% (75/250) of the patients exhibited STR instability with more than 26.32% (26.32%–84.21%) STR alternation. The cutoff with 26.32% of the STR alternations covered all 15 MSI cases and suggested that it might be a potential threshold. Given the similar mechanism of the mutations of MSI and forensic STR, the widely used forensic identifier STR kit might provide potential usage for identifying hypermutational status in GI cancers.

关键词： mismatch repair protein deficiency (MMR-D) microsatellite instability (MSI) short tandem repeats (STR) gastrointestinal tumor hypermutability

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Clinical evaluation of recombinant human growth hormone injection in children with growth hormone deficiency

Ling HOU, Xiaoping LUO, Minlian DU, Huamei MA, Chunxiu GONG, Yuchuan LI, Shuixian SHEN, Zhuhui ZHAO, Li LIANG, Guanping DONG, Chaoying YAN, Hongwei DU

《医学前沿（英文）》 2009年第3卷第2期页码 171-176 doi: 10.1007/s11684-009-0027-4

摘要： Recombinant human growth hormone (rhGH) has been widely used in the clinical treatment of growth hormone deficiency. To simplify the injection process and increase drug compliance, application of the GH injection has become a new treatment plan in recent years. The purpose of the current study was to evaluate the efficacy and safety of rhGH injection for the treatment of growth hormone deficiency (GHD) in children in China. In a nationwide, noncomparative, prospective, randomized, open trial, 31 children with confirmed complete GHD received subcutaneous injection of rhGH at 0.25 mg/kg·wk (0.107 IU/kg·d). The injection was given daily and the total weekly amount was separated into 6-7 injections. The patients were followed up at 3-month intervals and the treatment duration was 12 months. The height (HT), annual growth velocity (GV), mean height standard deviation score (HT SDS), blood serum insulin-like growth factor I (IGF-I), insulin-like growth factor binding protein 3 (IGFBP-3), and bone maturity before and after treatment were compared, and the safety of the treatment was analyzed. The mean HT, GV, and HT SDS were increased from 109.0±14 cm, 2.7±0.9 cm/yr, and -4.62±1.46 at baseline to 121.8±13.4 cm, 12.9±3.3 cm/yr, and -2.47±1.86 after 12 months of treatment, respectively ( <0.001). At the same time, blood IGF-I and IGFBP-3 were increased significantly [41.27±64.43 μg/L 159.21±167.92 μg/L and 1540.00±1325.11 mg/L 3533.93±1413.82 mg/L, respectively ( <0.001)]. The bone age assessments performed 6 and 12 months after the treatment showed that no advanced bone maturation was noted. No serious adverse events occurred during the treatment, and the drug-related adverse events were mainly decreased thyroid function. We conclude that rhGH injection is a safe and effective drug for treatment of growth hormone deficiency in children.

关键词： recombinant human growth hormone injection growth hormone deficiency

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Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma

Na Qin, Yuancheng Li, Cheng Wang, Meng Zhu, Juncheng Dai, Tongtong Hong, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary Goodman, Stig E. Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeboller, Gadi Rennert, Susanne Arnold, Paul Brennan, John K. Field, Sanjay Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline Andrew, Lambertus A. Kiemeney, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Penella Woll, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Victoria L. Stevens, Guangfu Jin, David C. Christiani, Zhibin Hu, Christopher I. Amos, Hongxia Ma, Hongbing Shen

《医学前沿（英文）》 2021年第15卷第2期页码 275-291 doi: 10.1007/s11684-020-0779-4

摘要： Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15 581 lung adenocarcinoma (AD) cases, 8350 squamous cell carcinoma (SqCC) cases, and 27 355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific. Functional annotation and gene-based analysis implicated 894 target genes, including 274 specifics for AD and 123 for SqCC, which were overrepresented in somatic driver genes (ER=1.95, =0.005). Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways, while SqCC genes were homologous recombination deficiency related. Our results illustrate the molecular basis of both well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.

关键词： lung cancer genome-wide association study function annotation immune homologous recombination repair deficiency genetic heterogeneity

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标题作者时间类型操作

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism:

null

期刊论文

Prevalence of vitamin D deficiency in girls with idiopathic central precocious puberty

null

期刊论文

Chinmedomics facilitated quality-marker discovery of Sijunzi decoction to treat spleen qi deficiency

Qiqi Zhao, Xin Gao, Guangli Yan, Aihua Zhang, Hui Sun, Ying Han, Wenxiu Li, Liang Liu, Xijun Wang

期刊论文

Rdh13 deficiency weakens carbon tetrachloride-induced liver injury by regulating Spot14 and Cyp2e1 expression

Xiaofang Cui, Benting Ma, Yan Wang, Yan Chen, Chunling Shen, Ying Kuang, Jian Fei, Lungen Lu, Zhugang Wang

期刊论文

The rpoS deficiency suppresses acetate accumulation in glucose-enriched culture of <

Prayoga SURYADARMA, Yoshihiro OJIMA, Yuto FUKUDA, Naohiro AKAMATSU, Masahito TAYA

期刊论文

Uncertainty of concrete strength in shear and flexural behavior of beams using lattice modeling

期刊论文

Mechanisms of “kidney governing bones” theory in traditional Chinese medicine

null

期刊论文

Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit

Anqi Chen, Suhua Zhang, Jixi Li, Chaoneng Ji, Jinzhong Chen, Chengtao Li

期刊论文

Clinical evaluation of recombinant human growth hormone injection in children with growth hormone deficiency

Ling HOU, Xiaoping LUO, Minlian DU, Huamei MA, Chunxiu GONG, Yuchuan LI, Shuixian SHEN, Zhuhui ZHAO, Li LIANG, Guanping DONG, Chaoying YAN, Hongwei DU

期刊论文

Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma

期刊论文

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