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V-Raf murine sarcoma viral oncogene homolog B (BRAF) alteration is one of the most essential driver genes of non-small cell lung cancer (NSCLC). BRAF encodes serine/threonine protein kinases, and its mutations typically lead to protein compositional activation, thereby activating the mitogen-activated protein kinase kinase (MEK) signaling pathway. A promising new approach for the treatment of mutated BRAF and/or downstream MEK may provide customized treatment opportunities for BRAF driven NSCLC patients. However, combination therapy is necessary to overcome the difficulties such as short duration of benefit, poor therapeutic effect of non-V600 BRAF mutations and susceptibility to drug resistance. This article reviewed the progress in structural characteristics, related signaling pathways, mutation types of BRAF gene, and the clinical pathological relationship between BRAF mutations and NSCLC, as well as the therapy, in order to provide more evidences for clinical doctors to make treatment decisions. [ABSTRACT FROM AUTHOR]

Copyright of Practical Oncology Journal is the property of Journal of Practical Oncology Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Practical Oncology Journal is the property of Journal of Practical Oncology Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Shanghan Lun is based on "exogenous cold disease," the change rules of a series of diseases such as superficies tightened by wind-cold and yang deficiency and internal cold, and the rules of treatment based on syndrome differentiation have had a profound impact on traditional Chinese medicine in later generations. Formulae with the name of "Sini" and its variations have the effect of treating deadly cold limbs in Shanghan Lun, for example, Sini Decoction, Tongmai Sini Decoction, Baitong Decoction, Fuling Sini Decoction, Sini Renshen Decoction, Danggui Sini Decoction, and Sini Powder, etc. Their corresponding constitution characteristics, etiology and pathogenesis, changes in disease status, and clinical manifestations have certain commonalities. This paper discusses and analyzes the modifications of the "Sini" formulae, the rules of the formulae, and the principles of application based on the characteristics of yang deficiency constitution, their susceptibility to disease, and the evolutionary pattern of yin excessiveness due to yang deficiency pathogenesis. Our aim is to deepen the knowledge and understanding of the application of the "Sini" formulae from the perspective of yang deficiency constitution and to provide research ideas for the comprehensive study of "constitution-disease-syndrome differentiation". [ABSTRACT FROM AUTHOR]

It is important to improve the safety behavior level of university laboratories and prevent laboratory safety accidents from happening. From the perspective of rules-following, this paper analyzed the influencing factors of laboratory safety behavior based on cognitive theory, behavioral dynamics theory, cybernetics, and literature research. The results showed that people's safety behavior was controlled by the motivation to follow the rules of safety, and personality characteristics were the key to the fulfillment of rules-following; the safety rules, organizational management, and experimental group constituted the environment of rules-following and played the roles of guiding, directing, observing, and controlling the motivation to comply with the rules. Finally, it is proposed to improve the motivation to follow the rules of laboratory safety based on individual characteristics by improving the safety diathesis of experimenters and optimizing the rules-following environment of safety. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Cancer Biotherapy is the property of Editorial Office of Chinese Journal of Cancer Biotherapy and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective We aimed to determine the minimum clinically important difference (MCID) of three different item versions of the Constitution in Chinese Medicine Questionnaire (CCMQ), to facilitate the clinical application of CCMQ. Methods In total, 537 subjects were included in the analysis. All subjects voluntarily completed a comprehensive of traditional Chinese medicine ( TCM) constitution intervention (mood, diet, daily living, exercise, and acupoints). The subjects filled out the 60-item CCMQ and the Short Form Health Questionnaire (SF-36) at baseline and 3 months after the intervention. The result of the 41-item and the 30-item CCMQ were scored according to the result of the 60-item CCMQ. An anchor-based approach and a distribution-based approach were used to estimate the MCID of the three versions of the CCMQ. The anchor of the anchor-based approach was SF-36 item 1, and the analysis method were the mean change method and multiple linear regression. The standardized response mean ( SRM) was used for the distribution-based approach. Results The mean change method and multiple linear regression estimation result were averaged and rounded to whole numbers. The MCID values of the 60-item CCMQ of balanced type, qi-deficiency type, yang-deficiency type, yin-deficiency type, phlegm-dampness type, dampness-heat type, blood-stasis type, qi-depression type, and special diathesis type were 5, -5, -3, -3, -4, -4, -4, -4, and -2, respectively. The MCID values of the 41-item CCMQ were 4, -6, -4, -2, -4, -4, -4, -4, and -2, respectively. The MCID values of the 30-item CCMQ were 5, - 5, - 4, - 3, - 4, - 5, - 4, - 5, and - 2, respectively. The MCID values estimated by the anchor-based approach were higher than those estimated when SRM was 0. 2, except for the special diathesis type. Conclusion The MCID values of three different versions of the CCMQ estimated in this study can reflect the minimum score change of the CCMQ considered important and meaningful by patients, which is helpful for doctors in explaining the effect of TCM constitution intervention or setting intervention targets. [ABSTRACT FROM AUTHOR]

Copyright of Acta Agriculturae Zhejiangensis is the property of Acta Agriculturae Zhejiangensis Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective　To construct a phlegm-dampness constitution knowledge map based on the Neo4j graph database, so as to provide a preliminary basis for the follow-up research on constitution-related question and answer, intelligent auxiliary diagnosis and treatment, and health plan recommendation. Methods　The related data of phlegm-dampness constitution were comprehensively collected by searching CNKI, Wanfang Data and VIP. The entities related to phlegm-dampness constitution were extracted by manual labeling, and the relationships among them were further explored. The knowledge ontology of phlegm-dampness constitution was constructed from the aspects of forming factors, disease susceptibility, characteristics of the constitution and corresponding regulation method with reference to the TCM clinical terminology and semantic network standards. Results　In the Neo4j graph database, a total of 19 types of node labels and 6 types of relationships were created, including 383 nodes and 844 connections, which realized the preliminary construction and visualization of the phlegm-dampness constitution knowledge map. Conclusion　The phlegm-dampness constitution knowledge map constructed with the Neo4j graph database seems to be intuitive and efficient, which lays the foundation for the establishment of a knowledge sharing platform of TCM constitution [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Lung Cancer is the property of Chinese Journal of Lung Cancer and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In order to explore the relationship between the substantia nigra, red nucleus susceptibility value of quantitative susceptibility imaging and the degree of Parkinson's disease (PD) and the value of predicting the short-term prognosis, fifty-four patients with PD were selected as the research object, and they were divided into a good prognosis group based on the recent prognosis (39 cases) and poor prognosis group (15 cases). The results showed that the substantia nigra and red nucleus susceptibility values of the poor prognosis group were higher than those of the good prognosis group (P<0.05); the substantia nigra and red nucleus susceptibility values of patients with stage IV-V were higher than those of stage III, I-II, and stage III patients higher than that in patients with stage I to II (P<0.05) ; there is a positive correlation between the substantia nigra and red nucleus susceptibility values and the severity of the disease (P<0.05); the substantia nigra and red nucleus susceptibility values are still significantly related to the short-term prognosis of PD patients (P<0.05). The area under the curve (AUC) of substantia nigra and red nucleus susceptibility predicting poor prognosis of PD were 0.708 and 0.678, respectively, and the combined predicted AUC was the largest, which was 0.846. Based on this, it can be seen that the magnetic susceptibility values of the substantia nigra and red nuclei are positively correlated with the severity of PD. Quantitative magnetic susceptibility imaging measurement has high application value in predicting the short-term prognosis of PD. [ABSTRACT FROM AUTHOR]

Objective: To develop and evaluate the simplified Chinese versions of motion sickness susceptibility questionnaire (MSSQ)-long (MSSQ-L) and MSSQ-short (MSSQ-S). Methods: A cross-sectional study was conducted in May 2023 among 3 426 university students at North China University of Science and Technology. The Chinese versions of MSSQ-L and MSSQ-S were distributed, and item selection for Simplified Chinese versions of MSSQ-L and MSSQ-S was performed based on item response rates, item-total correlations, Cronbach's alpha coefficients, and standard deviations. Forty-five male and forty-five female participants were recruited from the initial survey population to complete Coriolis acceleration endurance testing and fill out the simplified Chinese versions of MSSQ-L and MSSQ-S, and Graybiel symptom severity score questionnaire. Internal consistency, external consistency, criterion validity, discriminant validity, and predictive accuracy for motion sickness severity were assessed. Results: A total of 3 111 valid responses were received for the Chinese versions of MSSQ, yielding an effective response rate of 90.8% (3 111/3 426). Among the 3 111 students surveyed, there were 965 males and 2 146 females, with a mean age of (19.5±1.4) years. The highest usage rates for item were observed for cars (98.9%, 3 077/3 111) and buses (98.8%, 3 073/3 111). The simplified Chinese versions of MSSQ-L and MSSQ-S consisted of four and eight items, respectively. The Cronbach's alpha coefficients were 0.900 and 0.953 for the simplified Chinese versions of MSSQ-S and MSSQ-L, respectively, with test-retest reliabilities of 0.895 and 0.908. Criterion validity coefficients were 0.814 and 0.765 for the simplified Chinese versions of MSSQ-S and MSSQ-L, respectively. In terms of discriminant validity, significant differences were observed between mild and moderate susceptibility groups [0(0, 3) vs 6(2, 10), P =0.006] and between moderate and severe susceptibility groups [6(2, 10) vs 9(6, 13), P =0.030] for the simplified Chinese version of MSSQ-S. Significant differences were also observed between mild and moderate susceptibility groups [5(0, 3) vs 7(3, 10), P =0.001], but not between moderate and severe susceptibility groups [7(3, 10) vs 7(3, 10), P =0.081] for simplified Chinese version of MSSQ-L. The overall predictive accuracy for motion sickness severity improved from 55.6% (50/90) to 62.2% (56/90) for the simplified Chinese version of MSSQ-S and from 54.4% (49/90) to 58.9% (53/90) for the simplified Chinese version of MSSQ-L, but with no statistically significant differences (both P >0.05). Conclusions: The simplified Chinese versions of MSSQ-L and MSSQ-S demonstrates good reliability and validity. The simplified Chinese version of MSSQ-S exhibits satisfactory discriminant validity, and can serve as a simple and efficient tool for assessing motion sickness susceptibility.

Copyright of Nutritional Sciences Journal is the property of Nutrition Society of Taiwan and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To study the clinical characteristics, diagnosis, treatment and prognosis of a patient with childhood-onset rapid-onset dystonia Parkinsonism (RDP) caused by ATP1A3 gene mutation, and review the related literature. Methods The patient with RDP caused by ATP1A3 gene mutation was admitted to Hunan Children's Hospital in March 2019. The clinical and genetic data of this patient had been analyzed retrospectively, and related literature from PubMed, Wanfang databases and CNKI to date (up to December 2019) with "Rapid-onset dystonia-parkinsonism", "RDP", "DYT12" as key words were reviewed. Results The patient was 4 years and 9 months (March 2019) old when she had the attack of the disease. After a febricity, she suddenly acquired acute aphasia, dysphagia, and movement disorder with a clear asthenic (face > arm > leg) gradient of involvement. Rehabilitation therapy and supportive treatment made his movement disorder gradually recovered but aphasia and dysphagia. Gene analysis showed that the ATP1A3 gene c.2267G > A (p.R756H) site heterozygosity missense mutation existed in the patient. The mutation site was a pathogenic mutation of RDP, which had been reported in literature at home and abroad. The patient was treated with benzodiazepine and the effect was significant. At present, a total of 61 patients have been reported to date, and a total of 17 different mutations in ATP1A3 gene with RDP have been reported to date. The typical clinical phenotypes of RDP include the abrupt onset of dysarthria, dysphagia, limb dystonia with bradykinesia, among which bulbar paralysis was obvious and dystonia had an anatomical distribution clearly following a asthenic gradient (face > arm > leg). Conclusions The clinical characteristics of RDP are distinct, and ATP1A3 gene is its pathogenic gene. The analysis of the clinical characteristics and genetic characteristics of RDP will be conducive to the early diagnosis and treatment of RDP as well as the eugenics. [ABSTRACT FROM AUTHOR]

Objective To investigate the association of TLR4 gene polymorphism with the susceptibility to hepatitis B virus (HBV)-related primary liver cancer and its influence on the prognosis of patients. Methods A total of 106 patients with HBV-related liver cancer who were admitted to Beijing YouAn Hospital which cooperated with Dongzhimen Hospital of Beijing University of Chinese Medicine from June2015 to July 2017 were enrolled as liver cancer group; 120 patients with chronic hepatitis B who were admitted during the same period of time in Dongzhimen Hospital of Beijing University of Chinese Medicine were enrolled as hepatitis B group,and 100 healthy control subjects were enrolled as control group. Blood samples were collected from each group to detect TLR4 D299 G,T399 I,and A896 G polymorphisms,and postoperative recurrence was analyzed for liver cancer patients with different genotypes. An analysis of variance was used for comparison of continuous data between multiple groups,and the least significant difference t-test was used for further comparison between two groups;the chi-square test was used for comparison of categorical data between two groups,and the Kruskal-Wallis H test was used for comparison between multiple groups. An unconditional logistic regression model and odds ratio (OR) used to estimate relative risk were used to investigate the association of each factor with the onset risk of HBV-related primary liver cancer; the Kaplan-Meier curves were plotted for survival analysis,and the log-rank test was used for comparison of survival curves between groups. Results There were no significant differences in the genotype and allele distributions of TLR4 D299 G and TLR4 A896 G between the three groups (χ2= 1.436,1.949,1.851,and2.599,all P > 0.05),while there were significant differences in the genotype and allele distributions of TLR4 T399 I between the three groups (χ2= 11.654 and 14.995,both P<0.05),and the liver cancer group had a significantly higher frequency of T allele than the hepatitis B group and the control group (P<0.05). The unconditional logistic regression model showed that CC genotype of TLR4 T399 I had an OR of 1.682 (95% confidence interval[CI]: 1.109-2.243,P = 0.027),TT genotype of TLR4 T399 I had an OR of 2.103 (95% CI:1.347-2.896,P<0.001),and T allele of TLR4 T399 I had an OR of 1.872 (95% CI: 1.192-2.374,P = 0.002). There was no significant difference in recurrence-free survival after surgery between the liver cancer patients with different genotypes of TLR4 D299 G and TLR4 A896 G (χ2= 0.022 and 0.471,both P > 0.05). The liver cancer patients with CC genotype of TLR4 T399 I had significantly better recurrence-free survival after surgery than those with CT or TT genotype (χ2= 6.781,P<0.05). Conclusion TLR4 T399 I gene polymorphism is closely associated with the susceptibility to HBV-related primary liver cancer,and T gene of TLR4 T399 I may be an important factor for tumorigenesis and poor prognosis. [ABSTRACT FROM AUTHOR]

Genetic susceptibility refers to the risk of developing polygenetic diseases based on personal genetic background，that is，specific genetic variation from one or both parents can induce disease in some cases. The genetic variations of high penetrance play important roles in the pathogenesis of specific diseases， in which associated genetic changes can be identified through pedigree analysis，while effects of these variations with low penetrance are hard to determine， requiring large-scale population analysis to investigate the responsible genetic mechanism. In recent years， with the development of second generation sequencing and multifactorial analysis techniques as well as the accumulation of genomic data， significant progress has been made in the study of genetic susceptibility to diseases such as cancer， metabolic diseases， cardiovascular and cerebrovascular diseases， and mental diseases，which provides a reference for early screening， diagnosis， and treatment of human diseases. [ABSTRACT FROM AUTHOR]

Early detection and effective monitoring of the risk signals of drug-induced liver injury( DILI) are of great importance in the prevention and management of DILI in clinical practice. However,the lack of high sensitivity and strong specificity in the detection of risk signals brings great challenges to the identification and monitoring of risk signals and causes difficulties in establishing the strategies for the prevention and control of DILI. This article analyzes the challenges in the identification of DILI risk signals,summarizes the applicability and limitations of risk signals based on commonly used indices in early recognition,prediction,and early warning of DILI,proposes an identification and monitoring model for DILI risk signals based on specific biomarkers,and elaborates on their potential clinical values,so as to provide a scientific basis for developing targeted strategies for the prevention and control of the risk of DILI. [ABSTRACT FROM AUTHOR]

Since late December 2019, an outbreak of 2019 novel coronavirus disease (COVID-19) in Wuhan, China has spread quickly nationwide. With the spread of COVID-19, the routine clinical diagnosis and treatment for lung cancer patients has been disturbed. Due to the systemic immunosuppressive of lung cancer patients caused by the malignancy and anticancer treatments, lung cancer patients are more susceptible to infection than healthy individuals. Furthermore, patients with cancer had poorer prognosis from infection. Lung cancer patients should be the priority group for COVID-19 prevention. The protection provisions and control measures aiming to protect lung cancer patients from COVID-19 have been increasingly concerned. During the COVID-19 outbreak period, it should be carefully differentiated for fever and respiratory symptoms for lung cancer patients receiving anti-tumor treatment, in order to evaluate the risk of COVID-19. Moreover, it is necessary to carry out meticulous and individualized clinical management for lung cancer patients to effectively protect the patients from COVID-19. [ABSTRACT FROM AUTHOR]

Objective To investigate the prognostic value of dynamic susceptibility contrast - enhanced MHI (DSC - MHI), 3D - arterial spin labeling (3D - ASL) and intravoxel incoherentmotion (IVIM) in glioblastoma. Methods From August 2016 to October 2017, a total of 34 patients with glioblastoma were enrolled. According to the overall survival (OS), they were divided into < 14 months group (17 cases) and ≥ 14 months group (17 cases). MHI conventional sequences, DSC - MHI, 3D - ASL, IVIM were acquired before operation. Multiple regions of interest (ROIs) were placed in the tumor-enhanced region and the peritumoral region, and recorded the values of DSC - maximum relative cerebral blood volume (DSC - rCBVmax) and relative cerebral blood flow (DSC - rCBF), ASL - cerebral blood flow (ASL - CBF), IVIM - perfusion fraction (PF). Heceiver operating characteristic (HOC) curve was used to evaluated the prognostic value of the imaging indicators. Results There were no significant differences in ASL - CBF, IVIM - PF, DSC - rCBF and DSC - rCBVmax between the OS < 14 months group and the OS ≥ 14 months group in tumor - enhanced region (P >0.05, for all). In the peritumoral region, the IVIM-PF of the patients in OS < 14 months was lower (P = 0.011) while DSC - rCBF (P = 0.009) and DSC - rCBVmax (P = 0.012) were higher than OS ≥ 14 months group. The area under the ROC curve was 0.579 (95%CI: 0.372-0.787, P = 0.453), 0.763 (95%CI: 0.588-0.937, P = 0.013) and 0.746 (95%CI: 0.565-0.926, P = 0.020) respectively, suggesting that DSC - rCBF and DSC - rCBVmax have better reference value for prognosis. Conclusions The imaging indicators of DSC - MRI have an effect on the OS of glioblastoma, while IVIM and ASL have not shown an effect on overall survival. [ABSTRACT FROM AUTHOR]

Objective To observe and analyze the correlation between the polymorphisms of 19 microsatellite DNA markers and esophageal squamous cell carcinoma. Methods The polymorphisms analysis of 19 commonly used microsatellite DNA loci in the tumor tissues from 80 cases of esophageal cancer (case group) verified by the pathological section and without chemoradiotherapy before collecting the materials and the venous blood from 200 healthy individuals (control group) in the First Affiliated Hospital of North Sichuan Medical College during 2017-2018 was performed by using PCR combined with capillary electrophoresis. Meanwhile the Hardy-Weinberg gene balance was tested in the control group, and the differences of allele frequency distribution in 19 microsatellite DNA gene loci (D3 S1358, D13 S317, D7 S820, D16 S539, Penta E, TPOX, TH01, D2 S1338, CSF1 PO, Penta D, VWA, D21 S11, D18 S51, D6 S1043, D8 S1179, D5 D818, D12 S391, FGA) between the two groups conducted the statistical analysis. Results The distribution of 19 microsatellite DNA gene loci in the control group was consistent with Hardy-Weinberg′s equilibrium law; the microsatellite DNA polymorphisms distribution at D5 S818 and FGA loci had statistical difference between the case group and control group (P<0. 05) ;the frequency of D5 S818-13 and FGA-20 in the case group was significantly higher than that in the control group, and the difference was statistically significant (P<0. 05) . Conclusion There may be esophageal cancer susceptibility genes in the vicinity area of D5 S818-13; FGA-20 is correlated with esophageal cancer, and esophageal cancer susceptibility genes may exist in its near area. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Lung Cancer is the property of Chinese Journal of Lung Cancer and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To discuss the relationship between the gene polymorphism of GSTP1 lie (105) Val and the susceptility of Chronic Obstructive Pulmonary Disease(COPD). Methods 100 inpatients and outpatients admitted from January 2013 to December 2017 were selected in the study and divided into control group (patients without COPD. bronchial asthma .chronic bronchitis and other chronic respiratory diseases),and COPD group.and all patients were Hui nationality population in Henan, 50 cases in each group. Restriction fragment length polymorphism polymerase chain reaction was used to detect GSTP1 genotype in two groups. Results There was no statistical significance in GSTP1 genotype frequency between two groups (P>0.05). The frequency of G allele at 105 position of exon 5 of GSTP1 in COPE group (26.0%) was higher than that in the control group (14.0%), and the difference was statistically significant (P<0.05). Conclusion The G allele of exon 5 of GSTP1 is an independent risk factor for Henan Hui nationality COPD patients. [ABSTRACT FROM AUTHOR]

Pelvic pain is one of the common gynecological diseases in women, which mainly presents as chronic pelvic pain. It has not only a great impact on women's posture and balance ability, but also severe influence on the quality of life and health. However, the biological basis and etiology of chronic pelvic pain are still unclear. Its evaluation and treatment are complicated, which brings great difficulties to the treatment and rehabilitation. We aim to review the innervation of internal and external reproductive systems, the imaging changes and pain susceptibility of central nervous, the interaction between cytokines and peripheral nerve fibers, the role of inflammation factor in reducing peripheral nerve sensitivity, the pain signals transmission and neurons kinase signaling pathways activation mediated by sodium channel to further provide a theoretical basis for the prevention and treatment of female pelvic pain. We focus on the role of signaling pathways and cytokines in the pathogenesis of pain. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To explore the clinical features and genetic characteristics of Charcot-Marie-Tooth disease type 4B2 (CMT4B2) patients. Methods MTMR13/SBF2 gene mutations were screened by target region capture sequencing among a CMT4B2 Chinese family which included 3 patients. Results Case 1 (the proband) showed weakness in both lower limbs 6 years ago, running significantly slower than her classmates. The symptoms then became gradually worsened. Then the patient suffered from amyotrophy of thenar and hypothenar eminences and interosseus of her hands, bilateral finger joints could not be straightened, atrophy of bilateral leg muscles, talipes equinovarus appearance, and weakened tendon reflexes of limbs. Case 2 (the proband's younger brother) had weakness in both lower limbs and walked unsteadily 2 years ago, with running and going upstairs significantly slower than before. His abnormal walking gait got worsening in recent and he could not bend his feet upward in the stand or on the walk. He also presented amyotrophy of thenar and hypothenar eminences of his hands, mild atrophy of bilateral leg muscles, talipes equinovarus appearance, and weakened tendon reflex of limbs. Case 3 (the proband's another younger brother) also had difficulty in walking with the heel, and thenar and hypothenar eminences of his hands were mildly atrophic and the tendon reflexes were weakened. The result of proband's MTMR13/SBF2 gene test showed c.230G > A (p.Gln77Arg) and c.1537C > T (p.Gln513*) compound heterozygous mutations, her father carried c.230G > A (p.Gln77Arg) heterozygous mutation and her mother carried c.1537C > T (p.Gln513*) heterozygous mutation. Case 2 and Case 3 had the same compound heterozygous mutation as the proband. The 3 patients were diagnosed as CMT4B2, and their family was diagnosed as CMT4B2 pedigree. All patients were treated by mecobalamine. The proband was also treated by plaster immobilization to correct her talipes equinovarus. Conclusions CMT4B2 is a very rare and serious progressive type of CMT. Since there is no effective treatment of CMT4B2, we should carry out gene test as early as possible to make a clear diagnosis on patients and also take hereditary inquiry on the patient's family. For disease-causing gene carriers who want to have a baby, prenatal genetic diagnosis should be done to avoid the birth of CMT4B2 baby. For carriers of the gene without clinical symptoms or in early stage, close follow-up and active treatment should be taken to delay the onset and prevent talipes equinovarus or scoliosis, so as to improve the life quality of patients. [ABSTRACT FROM AUTHOR]

Stroke is one of the serious threats to human health, with high incidence, morbidity and mortality. Studies have shown that genes play an important role in the pathogenesis of stroke. Atherosclerosis, hypertension, diabetes, hyperlipidemia and heart disease are risk factors for stroke, and are associated with inheritance. Stroke susceptibility gene is one of the hotspots at home and abroad. This article reviews the progress of susceptibility genes in large artery atherosclerotic ischemic stroke. [ABSTRACT FROM AUTHOR]

Objective To explore the relation between vitamin D deficiency and susceptibility to spinal tuberculosis. Methods A total of 163 hospitalized patients with untreated spinal tuberculosis in Tianjin Haihe hospital were enrolled in this study from June 2013 to May 2016. A total of 170 individuals participated in health examination program at the same period were enrolled as the control group. The serum level of 25-hydroxyvitamin D [25(OH)D] was measured by enzyme linked immunosorbent assay. The 25(OH)D grading included serious deficiency group (<25 nmol/L), deficiency group (≥25 nmol/L and <50 nmol/L), insufficiency group (≥50 nmol/L and <75 nmol/L) and sufficiency group (≥75 nmol/L). Histopathological classification was confirmed by intraoperative findings. Results The serum level of 25(OH)D was significantly lower in patient group [23.99(20.55,29.54)nmol/L] than that of control group [42.94(35.68,51.04) nmol/L] (P< 0.01), and which was also significantly lower in four seasons than that of controls (P<0.05). The serum levels of 25(OH)D were significantly higher in summer group than those of winter group in both patient and control groups (P＜0.008 3). The proportion of patients with serious deficiency of 25(OH)D was significantly higher in spring and winter groups in patient group, which was significantly lower in summer group (P＜0.01). There was no significant difference in patients with serious deficiency of 25(OH)D between four seasons (P＜0.01). For control group, there was a higher proportion of cases with deficiency of 25(OH)D in four seasons, and there was no significant difference in the distribution of seasons (P＞0.05). In patient group, there were 107 cases of caseous necrosis type, 56 cases of hyperplasia type, and the proportion of caseous necrosis type was significantly higher in the severe deficiency group (79.17%, 76/96) than that of deficiency group (46.27%， 31/67, P＜0.01). Conclusion Excluding the effect of season, vitamin D deficiency is associated with susceptibility to spinal tuberculosis and histopathologic classification. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Cervical cancer is one of the most common female malignancies, resulted from both environmental factors and genetic variants. Recent research revealed that polymorphisms of MTHFR may have a correlation with increased cervical cancer susceptibility. A proposed mechanism for the role of MTHFR polymorphisms in carcinogenesis involves down-regulation of folate enzyme activities and interaction with the other factors such as folate level, human papillomaviruses infection, alcohol, smoking and the interaction of the proto-oncogene, which leaded to the abnormal patterns of DNA synthesis and methylation, influenced the individual susceptibility to cervical cancer, and played a completely different role in different countries and ethnic groups. MTHFR polymorphisms may also have a relationship with tumor prognosis by affecting the susceptibility to the chemotherapy and drug toxicity, however, whether it was associated with cervical cancer prognosis remained uncertain. This review concluded the relationship between MTHFR polymorphisms and cervical cancer in host susceptibility, epidemiology and prognosis as followed. [ABSTRACT FROM AUTHOR]

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Proteomic tools were used to identify the key proteins that might be associated with bronchial asthma(BA). Firstly, the serum samples from healthy adults and asthmatic patients were collected. Tandem Mass Tag~(TM)(TMT), which removes high-abundance structures and nonspecific proteins, was employed to identify the differentially expressed proteins between asthmatic patients and healthy adults. Gene Ontology(GO) annotation and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway enrichment analysis were carried out for the differentially expressed proteins. The core proteins in the asthma group were screened out by protein-protein interaction(PPI) analysis. Then the core proteins were verified by Western blot for 3 patients with bronchial asthma and 3 healthy adults. A total of 778 differentially expressed proteins were screened out, among which 32 proteins contained quantitative information, including 18 up-regulated proteins and 14 down-regulated proteins. The differentially expressed proteins were enriched in 28 KEGG signaling pathways. The PPI analysis showed that 10 proteins(GDN, 1433 Z, VWF, HEMO, CERU, A1 AT, TSP1, G3 P, IBP7, and KPYM) might be involved in the pathogenesis of bronchial asthma. Compared with those in healthy adults, the expression levels of SLC25 A4, SVEP1, and KRT25 in the sera of asthmatic patients were up-regulated(P&lt;0.05). Therefore, it is hypothesized that a variety of immune signaling pathways and differentially expressed proteins play a role in the pathogenesis of BA, which provides potential target information for the treatment of BA.

PURPOSE: To investigate the relationship between dietary antioxidant status and susceptibility of periodontal disease in humans. METHODS: Fifty patients with moderate-to -sever periodontal disease and 50 subjects without periodontal disease were enrolled in this study. Food frequency questionnaire and 72-hour diet recall were conducted to study the dietary pattern and antioxidant nutrients intake in patients and healthy subjects. Nutritional status including vitamins, mineral substance, and antioxidant enzymes in these 2 groups were analyzed in serum and saliva samples by liquid chromatography-mass spectrometry (LC-MS). SPSS 19.0 software package was used for paired t test. RESULTS: Compared with the control group, the chronic periodontal group had lower levels of potatoes, aquatic product, milk, soy, fresh vegetables, fruit and vitamin supplements intake (P<0.05). Through food components analysis we found that the intake of vitamin A, C, B2, E, calcium, magnesium, copper, selenium was significantly lower in the chronic periodontal disease group than that in the control group (P<0.05). Biochemical analysis demonstrated that antioxidant nutrient levels including antioxidant enzyme SOD in serum and saliva together with magnesium, calcium, manganese, zinc in saliva were significantly lower in disease periodontal group than in the control group (P<0.05). CONCLUSIONS: Oxidative stress plays an essential role in the occurrence and development of periodontal disease. The antioxidant nutrients may help to protect paradentium. Supported by Research Fund from Shanghai Municipal Health Bureau (20114103). [ABSTRACT FROM AUTHOR]

Peanut web blotch disease(Phoma arachidicola Marasas) is one of the serious diseases in Liaoning peanut production and caused serious yield reduction by 30 %. To guild the control of disease in fileds, the peanut web blotch disease damage and epidemic dynamics of peanut web blotch were studied. A systematical investigation on the disease was carried out in 2011. The results showed that the percentage of this disease fields was 100%, the percentage of diseased leaf was 32. 9% to 66. 5%, the disease index was 11.1 to 35. 5. It occurred most seriously in Huludao, Fuxin and Jinzhou city, moderately in Shenyang and slightly in Tieling city. The order of disease severity among tested cultivars was Silihong > Baisha1016 > Huayu20 > Heihuasheng > Baihuasheng. Through comparing and analyzing, Logistic model could well refect the temporal dynamic of peanut web blotch disease. And the epidemic period could be deduced and the highest disease index increasing rate was 0. 99/d. The Silihong was highly susceptible and could be used for disease epidemic studying. [ABSTRACT FROM AUTHOR]

Objective: To analyze the relationship between renin-angiotensin-aldosterone system (RAAS) gene polymorphisms and susceptibility to essential hypertension (EH) in military secret service personnel. Methods: In October 2019, military secret service personnel (162 people) who were recuperating in a sanatorium from January to December 2017 were selected as the research subjects, all of whom were Han and male. The patients (79 people) who were diagnosed with EH according to the diagnostic criteria of hypertension in the "Chinese Guidelines for the Prevention and Treatment of Hypertension" (2016 Revised Edition) were the case group, and the people with normal blood pressure (83 people) were the control group. Occupational epidemiological investigation was conducted, 5 ml of fasting cubital venous blood was collected, genomic DNA was extracted by phenol-chloroform method, and RAAS gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism method. The distribution differences of genotype and allele frequency between groups were compared, and the relationship between genotype, allele frequency and EH was analyzed. Results: The average age of military secret service personnel was (38.2±5.3) years old, and there was no statistical significance in the average age and the age distribution over 40 years old of the case group and the control group ( P >0.05) . There were significant differences in the distribution of AGT gene M235T locus, ACE gene I/D polymorphism genotype and allele between the case group and the control group ( P <0.05) . The TT genotype with AGT gene M235T locus ( OR =3.28, 95% CI : 1.21-8.91) and DD genotype with ACE gene ( OR =2.86, 95% CI : 1.17-7.00) were risk factors for EH in military secret service personnel. Conclusion: The TT genotype of AGT gene M235T and the DD genotype of ACE gene may be the susceptibility genotypes of military secret service personnel for EH.

As a stable genetic marker of human, blood group is expressed in a polymorphic system in the population. Blood group and pathogens mainly produce effects through the interaction between antigens and antibodies. On the one hand, they can promote pathogen colonization, invasion or evasion of host clearance mechanism, and on the other hand, they can make some hosts less susceptible to corresponding pathogens. By exploring the molecular mechanism between the blood group system and pathogenic microorganisms, it can provide a scientific basis for the treatment of human related diseases and the development of vaccines.

Since late December 2019, an outbreak of 2019 novel coronavirus diseases (COVID-19) in Wuhan, China has spread quickly nationwide. With the spread of COVID-19, the routine clinical diagnosis and treatment for lung cancer patients has been disturbed. Due to the systemic immunosuppressive of lung cancer patients caused by the malignancy and anticancer treatments, lung cancer patients are more susceptible to infection than healthy individuals. Furthermore, patients with cancer had poorer prognosis from infection. Lung cancer patients should be the priority group for COVID-19 prevention. The protection provisions and control measures aiming to protect lung cancer patients from COVID-19 have been increasingly concerned. During the COVID-19 outbreak period, it should be carefully differentiated for fever and respiratory symptoms for lung cancer patients receiving anti-tumor treatment, in order to evaluate the risk of COVID-19. Moreover, it is necessary to carry out meticulous and individualized clinical management for lung cancer patients to effectively protect the patients from COVID-19.

Shanghuo(excessive internal heat) is a special organic state based on the concept of traditional Chinese medicine(TCM), commonly known as the abnormal heating syndrome of body in folks. With the acceleration of modern life rhythm and the increase of the social competition pressure, emotional stress has become an important cause for the spread of Shanghuo symptoms. What's more, Shanghuo can impact the body physiological functions to cause the onset, recurrence and progression of common diseases, harming the health of the body. According to the long-term research findings, the author found that Shanghuo referred to the imbalance of multiple physiological functions, such as nerve, immunity and metabolism, caused by emotional stress. "Shanghuo" is not a disease itself, but it can increase the susceptibility to a variety of diseases. This study reviewed the traditional medicine theory and the modern medical studies, and explored the relevance and correlation mechanisms between the Shanghuo symptoms and disease susceptibility, so as to provide a reference to improve the state of sub-health and prevent or treat modern diseases., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Chinese Pharmaceutical Association.)

Objective: To evaluate the population immunity to measles and explore the factors associated with measles susceptibility in Yunnan residents aged ≥20 years. Methods: 2 689 residents aged ≥20 years were selected by multistage stratified systematic randomized sampling in 252 villages of 42 counties in Yunnan Province between June and September in 2015. Each subject was surveyed by the same questionnaire, including general information, measles contained vaccine history, measles history, and 5 ml blood sample of each subject was collected. Serum IgG antibodies against measles virus were measured by ELISA. Positive was defined as the antibody concentration ≥250 mU/ml, and negative as <250 mU/ml. Non-conditional logistic regression model was used analyze the factors associated with measles susceptibility in adults. Results: Among 2 689 subjects, 1 214 were males (45.15%), and the overall positive rate of measles IgG antibody was 89.77%. Compared with subjects from the region where economic development was low, subjects from the region where economic development was moderate were likely to be susceptible to measles virus ( OR= 1.81, 95 %CI: 1.33-2.47). Four age groups had higher risk of being susceptible to measles virus (compared with ≥40 years: 20-24 years old, OR= 2.04, 95 %CI: 1.26-3.31; 25-29 years old, OR= 3.72, 95 %CI: 2.37-5.86; 30-34 years old, OR= 1.94, 95 %CI: 1.22-3.09; 35-39 years old, OR= 1.81, 95 %CI: 1.07-3.05). Conclusion: Our results suggest that the serological susceptibility in adults (20-39 years), especially adults from the regions where the economic development was moderate, should be concerned. The additional vaccination strategy targeting young adults is important for reducing the risk of measles infection.

Objective: To analyze the epidemiological characteristics of HBV susceptible people in 1-29 years old people in 2006 and 2014 in China. Method: Data is from the 2006 and 2014 national sero-survey, and both of them were conducted in 160 disease surveillance points of 31 provinces (excluding Hong Kong, Macao Special Administrative Region and Taiwan province) in China. We used the centralized face-to face investigation method to collect basic information including birth date, gender, ethnicity, resident place, hepatitis B vaccination (HepB) history and so on, and 5 ml venous blood was collected for all subjects to test the sero-markers of HBsAg, anti-HBs and anti-HBc. We definite the HBV susceptible people as the HBsAg, anti-HBs and anti-HBc all negative together. And we use chi-square to analyze the epidemiological characteristics of HBV susceptibility in 1-29 years old young people in 2006 and 2014, and use multiple factors logistic regression to analyze the affect factors on HBV susceptible appearing in people with HepB vaccination. Result: In 2006 and 2014 sero-surveys, the investigated 1-29 year-old people were 49 849 and 31 713, respectively. And compared with 2006, the proportion of HBV susceptible people with HepB among 1-29 in 2014 increased from 20.87% (10 401) to 28.55% (9 055) (χ(2)=630.69, P< 0.001); and the proportion of susceptible people without HepB decreasing from 15.02% (7 485) to 7.66% (2 460) (χ(2)=953.73, P< 0.001). Compared with Han nationality, the high risk of susceptible appearing in minority people after HepB vaccination ( OR= 1.38). And compared with less than 3 doses HepB vaccination, the more than 3 doses vaccination could reduce the anti-HBs disappearing rate ( OR= 0.68); Compared with one year after last dose vaccination, the 2-4 years interval ( OR= 3.33) and more than 5 years interval ( OR= 6.53) would have high risk for anti-HBs disappearing. All above were P< 0.001. In western area, the proportion of susceptible people without HepB (9.58%, 1 047/2 460) was higher than the proportion in eastern (6.30%, 657/2 460) and middle area (7.30%, 756/2 460) ( P< 0.001). Conclusion: The HepB coverage maintained in high level in 1-4 years old children. The HBV susceptible proportion mainly concentrated in 15-29 years old people, and the immunization gap was in western, rural areas and minority peoples.

Objective: To explore the grey matter concentration in individuals with cognitive vulnerability to depression.
 Methods: Thirty individuals with cognitive vulnerability to depression and thirty age- and gender-matched healthy controls were enrolled in this study, and they were subjected to magnetic resonance imaging (MRI) examination. The grey matter concentration differences were compared between the two groups by using voxel-based morphometry (VBM) following MRI.
 Results: Individuals with cognitive vulnerability to depression showed significantly lower grey matter density in bilateral insular, left cerebellum, right supplementary motor area, and left precentral gyrus than those in the healthy controls, while the healthy controls showed significantly lower grey density in the right inferior frontal gyrus, right middle frontal gyrus, and left cuneus than those in the individuals with cognitive vulnerability to depression.
 Conclusion: Structural brain abnormalities in individuals with cognitive vulnerability to depression might be the neural basis for cognitive vulnerability to depression.

Objective: To assess the feasibility of susceptibility weighted imaging (SWI) in staging hepatic fibrosis(HF)., Methods: Sixty healthy rabbits were divided into three groups: HF group(n=32), control group(n=16), supplementary group(n=12). Rabbits in HF group and supplementary group were injected subcutaneously with 50% CCl4 oil solution to establish hepatic fibrosis model. On the basis of preliminary test, eight rabbits from HF group and four rabbits from control group underwent liver conventional MR scans and SWI once a time at 4, 5, 6, 10 weeks after CCl4 administration.After MR scans at each time point, rabbits were killed to detect pathological staging with Scheuer staging.The liver signal intensity (SI) and liver-to-muscle SI ratios (SIR) were measured. According to the Scheuer classification of histological fibrosis stages, the correlation about the SI value, SIR value and the histological fibrosis stages was investigated by using the Spearman correlation test. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic performance of SWI for staging HF on the basis of the histopathologic analysis of HF., Results: There were fifteen rabbits in pathological staging F0, the value of SIR and SI was 0.974 ± 0.018, 374±44, SIR values of pathological staging from F1 to F4 were 0.963 ± 0.018, 0.796 ± 0.023, 0.786 ± 0.025, 0.512±0.024 respectively. SI values of pathological staging from F1 to F4 were 372±18, 376±22, 346±15, 288±19 respectively. In the early period of liver fibrosis, there were no statistical differences in the SI value between F0 and F1, F1 and F2 stage.With progression of hepatic fibrosis, from F2 to F4, SI value decreased, the difference was statistically significant (P<0.05). With the progress of liver fibrosis, SIR value was reduced. It was negatively correlated with the HF stages and SIR value(r=-0.896, P<0.05). ROC curve analysis showed that the efficiency of SI value diagnosis in liver fibrosis was high in the late stage of liver fibrosis, but it was low in the early stage.The performance of liver-to-muscle SI ratio on SWI was high in the early stage. Liver-to-muscle SI ratio had a higher diagnostic performance than SI in the diagnosis of liver fibrosis stages., Conclusion: SWI can be a safe, reliable method for staging hepatic fibrosis and provide quantitative imaging basis for clinical treatment.

Objective: To analyze the distribution and drug resistance of the pathogenic bacteria in respiratory secretion in children with trachea bronchial foreign bodies so as to assist physicians in clinical prescription., Method: Sputum specimens of 622 children with trachea bronchial foreign bodies were collected,and the drug susceptibility test was peformed., Result: Pathogenic bacteria were detected in 124(19. 94%) of 622 sputum specimens. Most detected gram-negtive bacilli were highly sensitive to amikacin, ciprofloxacin, ceftriaxone, cefepime and ceftazidime, no strains were resistant to imipenem and meropenem; 42 strains were gram-positive bacilli. The former were highly sensitive to levofloxacin and chloramphenico,the latter were highly sensitive to ciprofloxacin, moxifloxacin and linezolid, no strains were resistant to rifampicin and vancomycin., Conclusion: The frequent pathogenic bacteria in respiratory secretion in children with trachea bronchial foreign bodies include gram-negtive bacilli such as enterobacter cloacae, klebsiella pneumonia, escherichia coli, acinetobacter baumannii, serratia marcescens, and gram-positive bacilli such as streptococcus pneumonia,staphylococcus aureus. The detected gram-negtive bacilli were sensitive to imipenem and meropenem;the detected gram-positive bacilli were sensitive to rifampicin and vancomycin.

Objective: To explore whether susceptibility weighted imaging (SWI) could diagnose the early changes of renal IRI in vivo by modeling the renal ischemia-reperfusion (IRI) of rabbit., Methods: Thrity four New Zealand white rabbits were chosen, the vesseles of the left kidney of rabbits were ligated for 60 minutes, then the renal ischemia-reperfusion model was established. Respectively, the rabbits before ligation, 0.5, 24 and 48 h after the ligation, were examined with MR, then the signal of the cortex and medulla was analyzed in SWI and T2WI, the imaging features were compared with histopathology., Results: The inner medullary of renal showed high signal, low signal in the outer medulla and mildly high in the cortex before ligation in T2WI sequence, which showed the typical three-band signal distribution, while the outer medulla showed wildly hypo-signal in SWI, the remnants showed high signal; kidney swelled significantly 0.5 hour after ligation, the stripe of cortex became thin, however, the inner medulla and outer medulla widened. The hypo-signal of the outer medulla faded, while the signal of inner medullary and cortical slightly elevated. The signal intensity of outer medulla lowered more obviously in SWI, the margin of the cortex and medulla became more clearly 24 and 48 h after ligation,However the signal of the outer medulla was higher than normal kidney in the SWI, and punctuate or stripe haemorrhage occurred in the outer medulla. Respectively, the number of punctuate, stripe haemorrhage detected by SWI in the out medulla of kidney 0.5, 24 and 48 h after ligation were 0, 2.50, 6.75 (F=52.17, P<0.01), Meanwhile, the number detected by T2WI was 0, 1.13, 2.88 (F=15.65, P<0.01); the number of hemorrhage which was detected by SWI and T2WI in the outer medulla among different timepoint have the statistical significance (t=4.83, P<0.01)., Conclusion: SWI can clearly show early changes in IRI-renal, especially in the outer medulla of the renal, the technique was helpful to assess the early changes of renal IRI.

Long-term occupational exposure to manganese might cause manganese poisoning, which would had adverse effects on nervous system of workers. The basal nucleus was damaged and dopaminergic neuron was injuried by manganese. The mechanism could be related with interfering the energy metabolism of central nerve, changing neurotransmitters, activating oxidation system and so on. Genetic factors may also plays a significant role in the neurotoxicity caused by manganese. Study the effects of manganese exposure biomarker, the neurotoxicity of biomarkers and the genetic susceptibility to early and susceptibility biomarkers will contribute to the prevention and control of manganese neurotoxicity.

Objective: To assess the association of cytochrome P450 gene single nucleotide polymorphisms (SNPs) with susceptibility to gout in ethnic Han males from coastal regions of Shandong province., Methods: Four hundred and eighty male patients with gout and 480 healthy male controls were included. Genotyping was carried out with a custom Illumina GoldenGate Genotyping assay to detect SNP rs2275620 of CYP2C8 gene, SNP rs2070676 of CYP2E1 gene, SNP rs837395 of CYP4B1 gene, and SNP rs194150 of TBXAS1 gene. The association was assessed with chi-square test., Results: No significant difference has been found between the two groups in regard to the genotypic and allelic frequencies of the TT, AT, AA genotypes and A, T alleles of the SNP rs2275620 of the CYP2C8 gene (P=0.88; P=0.97), the CC, CG, GG genotypes and C,G alleles of SNP rs2070676 of the CYP2E1 gene (P=0.24; P=0.09), the TT, AT, AA genotypes and A, T alleles of SNP rs837395 of the CYP4B1 (P=0.88; P=0.97), and TT, AT, AA genotypes and the A,T alleles of SNP rs194150 of TBXAS1 gene (P=0.15; P=0.06)., Conclusion: This study has identified no association of SNP loci rs2275620(A/T) of CYP2C8, rs2070676(C/G) of CYP2E1, rs837395(A/T) of CYP4B1 and rs194150(A/T) of TBXAS1 with gout in ethnic Han males from coastal regions in Shandong province. However, our result needs to be replicated in larger sets of patients collected from other regions and populations.

Objective: In this study, we investigate the relationship between HSP70 and lung function injury. To study on the feasibility of HSP70 genes polymorphisms as biological marker of the damage of pulmonary dysfunction susceptibility., Methods: 183 cock-oven workers were selected as exposure groups and 143 workers unexposed workers were selected as control groups. We investigated their general information with uniform questionnaire. Pulmonary dysfunction indicators were determined using portable spirometer. HSP70-1 G190C, HSP70-2 A1267G, HSP70- hom T2437C genotypes were analyzed by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The haplotypes were calculated using PHASE 2.0 software., Results: VC%, FVC%, MVV%, FEV(1.0%) in exposed group were lower than in non-exposure group, the difference were significantly (P < 0.05). VC%, FVC%, MVV%, FEV1.0% in exposed group with HSP70-1, HSP70-2, HSP70-hom genotypes were lower than in non-exposure group (P < 0.05); FVC% in exposed group with HSP70-hom T/C genotypes were lower than that with HSP70-hom T/T genotypes, MVV% were lower than that with HSP70-hom T/T, C/C genotypes. There's no difference in pulmonary dysfunction index of HSP70-1, HSP70-2 genotypes (P>0.05), but significant difference between the exposed group with HSP70-1, HSP70-hom genotypes; The adjust OR (95%CI) of exposed group with HSP70-1 G/C genotypes and HSP70-homT/C genotypes were 2.516 (1.012 ∼6.252) and 2.284 (1.033∼5.053). Exposed group with CGT haplotype pulmonary dysfunction were significantly higher than in non-exposure group (P < 0.05)., Conclusion: Coke oven exposure may increase pulmonary dysfunction injury, Coke oven workers who have the HSP70-1 G/C genotypes, HSP70-hom T/C genotypes and CGT haplotypes may increase the susceptibility of pulmonary dysfunction. There must be some relationship between HSP70-1, HSP70-hom gene polymorphisms and lung function injury of Cock-oven Workers.

Objective: To evaluate the relationship between osteopontin gene genetic polymorphisms and susceptibility of nasopharyngeal carcinoma in Guangxi Zhuang people., Methods: With a hospital based case-control study, osteopontin gene polymorphisms were compared between patients with nasopharyngeal carcinoma and healthy outpatients as a controls in Zhuang population in Guangxi. The single nucleotide polymorphisms at rs1126772 and rs9138 sites of the osteopontin gene were determined by polymerase chain reaction-single base extension technique (PCR-SBE) and DNA sequencing technology. The comparison between genotype and allele frequency distribution differences in case and control group was accomplished by a χ(2) test. The frequencies of haplotypes in osteopontin gene in different groups were analyzed., Results: There were no differences between the patients and controls in the genotype or allele frequencies of osteopontin gene rs1126772 site (, Ga/gg: OR = 0.94, 95%CI 0.37-2.37, χ(2) = 0.182, P = 0.891; AA/GG:OR = 0.86, 95%CI 0.35-2.12, χ(2) = 0.834, P = 0.773) or rs9138 site (, Ca/cc: OR = 1.42, 95%CI 0.88-2.29, χ(2) = 2.023, P = 0.155; AA/CC:OR = 1.77, 95%CI 0.78-4.01, χ(2) = 1.901, P = 0.168). The frequency of GA haplotype in the patients was significantly higher than that in the controls (P = 0.003), and the GA haplotype was associated with a significantly increased risk of nasopharyngeal carcinoma (OR = 4.84, 95%CI 1.59-14.71)., Conclusion: The haplotype GA of osteopontin gene rs1126772 and rs9138 sites increases the risk of nasopharyngeal carcinoma in Guangxi Zhuang people.