Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Fusion Proteins, bcr-abl ; genetics ; Humans ; Infant ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; epidemiology ; genetics ; Male ; Middle Aged ; Young Adult

OBJECTIVETo investigate the presence of p53 gene deletion in Xinjiang patients with chronic lymphocytic leukemia and its clinical significance.

METHODSInterphase fluorescence in situ hybridization (FISH) was used to detect the p53 gene deletion in 77 patients with CLL. Presence of the deletion and its association with clinical and laboratory features as well as prognostic factors were analyzed. Kaplan-Meier method was used to calculate survivals, and the results were compared using a Log-rank test.

RESULTSp53 gene deletion was found in 10 (12.9%) of the patients but none from the control group (P<0.05). The deletion was found in 12.5% (4/32) of ethnic Hans and 13.3% (6/45) of ethnic Uyghurs (P>0.05). No significant different distribution of p53 gene deletion was found in regard to sex, age, ethnicity, peripheral blood cell count (except for Hb) or the levels of lactate dehydrogenase, β2-micro globulin and CD38 (P>0.05). The deletion rate was higher in the group with high expression of ZAP-70 and patients with advanced stage disease than that in the group of low expression and early-stage CLL (P<0.05). Among 20 patients who received fludarabine therapy, the overall remission rate for those with p53 gene deletion (20%) was lower than those without (75%) (P<0.05). With a median follow-up time of 39.0 (8.0-136.0) months, 11 cases had died (14.3%), among them, 7 cases died from CLL and related complications, and all of them were founded p53 gene deletion. In patients with p53 gene deletion, the progression-free survival (18 months) was shorter than those without the deletion (55 months) (P<0.05).

CONCLUSIONThe p53 gene deletion has been found in more than 10% of patients with CLL, and the deletion rate did not significantly differ between ethnic Han and Uyghur patients. The deletion is associated with advanced stage of the disease. High-level ZAP-70 expression and the presence of p53 deletion are associated with shorter survival and poor response to fludarabine containing therapy. Therefore, drugs affecting the p53 signaling pathway should be avoided.

Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents ; therapeutic use ; Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Lymphocytic, Chronic, B-Cell ; diagnosis ; drug therapy ; ethnology ; genetics ; Male ; Middle Aged ; Prognosis ; Tumor Suppressor Protein p53 ; genetics ; Vidarabine ; analogs & derivatives ; therapeutic use ; ZAP-70 Protein-Tyrosine Kinase ; genetics

Objective To explore the influence of living donor renal transplantation on the safety of donors.Methods Sixty-two donors who underwent living donor renal transplantation in the First Affiliated Hospital of Xinjiang Medical University from April 2003 to April 2007 were selected as research objects.The operation time and length of stay of donors were recorded.The occurrence of postoperative complication and prognosis were observed.Postoperative follow up included serum creatinine (Scr),blood urea nitrogen (BUN),glomerular filtration rate (GFR),plasma albumin,hemoglobin,blood pressure and the influence of kidney donation on life and work.Results The operations of 62 donors were successful.One case developed pneumothorax during open nephrectomy and another case developed fat liquefaction and necrosis of incision.Both of them were cured after symptomatic treatment.Two cases developed pulmonary infection postoperation and were cured after the treatment of sensitive antibiotics and aerosol inhalation.The other cases recovered smoothly after operation.In 62 donors,the average postoperative length of stay was (8.2 ±2.6)d,and the follow-up time was (3.2 ±1 .1 )years.All of the donors survived without influence on life and work.No significant difference was observed in the changes of Scr,BUN,GFR,plasma albumin,hemoglobin,blood pressure of the donors before operation and 7 d,3 months,1 year,3 years,5 years after operation (all in P >0.05).Conclusions The living donor nephrectomy is safe and feasible.It is very important for assuring the safety of donors to examine living donor perfectly before operation,be careful during operation,and closely follow up after operation.

Objective To investigate the relationship between thyrotropin(TSH)and urine iodine in pregnant women of Han and Uygur ethnic groups in People′s Hospital of Xinjiang Uygur Autonomous Region. Methods A total of 1568 pregnant who completed screening of TSH and urine iodine in People′s Hospital of Xinjiang Uygur Autonomous Region hospital from August 2014 to December 2017 were included in the study, 956 cases were Han and the other 612 were Uygur. Basic clinical data, serum TSH, thyroid peroxidase autoantibody (TPOAb), and urine iodine levels were retrospectively analyzed. Results (1) General results:The median urine iodine level was 162.6μg/L(53.4-539.3μg/L), and the distribution of urine iodine classification was iodine deficiency 42.9％(672/1568), iodine appropriate 36.7％(576/1568), iodine slightly high 17.1％(268/1568)and iodine excess 3.3％(52/1568)respectively.(2)The median urine iodine levels of Han and Uygur pregnant women were 169.1μg/L(54.6-583.4μg/L)and 156.3μg/L (53.1-539.3μg/L)respectively, and the difference was statistically significant(P<0.05).The distribution of urine iodine status in pregnancy between Han and Uygur was significantly different, which were 40.9％(391/956)vs. 45.9％(281/612)in iodine deficiency, 35.4％(338/956)vs. 38.9％(238/612)in iodine appropriate, 20.2％(193/956) vs. 12.3％(75/612) in iodine slightly high and 3.6％(34/956) vs. 2.9％(18/612)in iodine excess.(3)High serum TSH level proportion was significantly higher in Uygur ethnic group, early pregnancy, thyroid peroxidase antibody positive and anti-thyroglobulin antibody positive group when compared with Han, late pregnancy, thyroid peroxidase antibody negative and anti-thyroglobulin antibody negative groups (all P<0.05). There were no significant differences in different age groups and iodine nutrition groups(P>0.05).(4)There was no correlation between urinary iodine and TSH levels in all pregnant women(P>0.05),neither in Han or Uygur group. When further stratified by gestational age, age, and antibody level, there was a positive correlation between urine iodine and serum TSH level in Han pregnant women>30 years old(P<0.05), and there was a negative correlation in the third trimester in Uygur (P<0.05). When serum antibody level, gestational week and age were controlled. There was no correlation between urine iodine and serum TSH level in neither group. Conclusions (1)In Han and Uygur pregnant women, the median urine iodine level and the distribution of urine iodine classification between two ethnic groups are significantly different.(2)The correlation between urine iodine and serum TSH is not identified in Han or Uygur pregnant women.

Objective:To investigate the correlation of multiple single nucleotide polymorphisms(SNPs)of thyroid peroxidase(TPO)and thyroglobulin(Tg)genes with Hashimoto′s thyroiditis(HT).Methods:Based on the gene mutation sites obtained from the second-generation sequencing of the target region of the previous autoimmune thyroid disease cases in our research group, the representative sites were selected for confirming in the expanded samples. A total of 301 Uyghur patients with HT and 383 controls were selected to determine the genotypes of representative SNPs(rs4927631, rs2071400, rs2071403, rs2403883, rs4236899, rs4736434, rs180195)using MassArry Sequenom platform. Correlation analysis and linkage analysis were performed with SPSS 21.0 software.Results:(1)The SNP rs4927631 gene frequency and genotype of TPO gene were significantly different between the case and control groups. The SNP rs2071403 gene frequency of TPO gene revealed statistically different between the case and control groups.(2)With analysis under different genetic models, the rs4927631 and rs2071403 of TPO gene were associated with HT under the additive model(AA/GG)and dominant model( P<0.05). The rs180195 of Tg gene was associated with HT in a recessive model( P<0.05). (3)All subjects were grouped according to the dominant genotype(AA+ GA)and recessive genotype(GG)of the TPO gene rs2071403, and mean age, gender distribution, proportion of those with higher TSH, and lower FT 4 were compared between two groups. Only thyroid peroxidase antibody(TPOAb) level displayed a statistical difference( P<0.05). This was the case for the patients with HT after grouped according to the above method( P<0.05). Conclusion:The rs4927631 and rs2071403 loci of TPO gene are associated with the pathogenesis of HT in Xinjiang Uygur.

Objective:To observe the reliability and validity of using a head-neck relocation test (HRT) in assessing cervical position sense.Methods:A total of 62 subjects were recruited, including 32 with neck pain and 30 healthy subjects. All received two HRTs conducted by two independent assessors at a first session, and then they received another HRT 24 hours later administered by one of them. The joint position error (JPE) was measured in the four directions of cervical motion: flexion, extension, levorotation and dextrorotation. The intra- and inter-rater reliability was quantified in terms of intra-class correlation coefficients (ICCs) and the difference in JPE between the two groups was also determined for validity.Results:The intra- and inter-rater reliability for the HRT in the four directions had ICC values of 0.603-0.830 and 0.597-0.837 respectively. The corresponding standard error of measurement (SEM) values were 1.52-2.15cm and 1.69-2.09cm, while the minimal detectable change (MDC) values were 4.20-5.97cm and 4.69-5.79cm, respectively. The patients with neck pain had significantly larger JPE in cervical extension and right rotation compared to healthy individuals, on average. And their JPE for cervical extension had an area under the curve (AUC) of the receiver′s operating curve of 0.755.Conclusions:The HRT showed good intra- and inter-rater reliability in assessing cervical joint position sense. The JPE for cervical extension can be used to discriminate those with neck pain from healthy subjects.

Objective To establish a reference range for specific thyroid function during pregnancy and to explore the influencing factors of hypothyroxinemia during pregnancy.Methods A retrospective analysis of 2 996 cases of thyroid function in the pregnant women who were with single pregnancy and without thyroid diseases and family history of those diseases.Results (1) Establish a unified reference range for specific thyroid function during pregnancy;the early,middle,and late trimesters thyrotropin (TSH) ranges were 0.02-6.39,0.16-6.23,0.64-6.59 mU/L,respectively,while free thyroxine (FT4) ranges were 11.32-23.00,9.39-18.92,8.54-16.73 pmol/L respectively.The specific reference ranges of Han and Uygur pregnant women were established separately.There was no difference in the detection rates of various thyroid diseases when using their respective reference ranges and the unified reference range of the hospital (P ＞ 0.05).(2) The detection rate of various thyroid diseases (except subclinical hyperthyroidism) of our subjects with China guideline reference range was significantly higher than the reference range with the hospital (P＜0.05).(3) The detection rates of hypothyroxinemia in all pregnant women with FT4 cut points of P2.5 and P5 were 4.3％ and 7.4％,respectively,of which the Han population was 4.3％ and 7.1％,respectively,and the Uygur population was 4.3％ and 7.9％,respectively.(4) Comparing the mean age,gestational age,median urine iodine,and thyroid antibody positive rate between the hypothyroxinemia group and the control group,only the mean age and gestational age were different (P＜0.05);Logistic binary regression analysis showed that age was the risk factor for hypothyroxinemia during pregnancy (OR =1.035,95％ CI 1.006-1.066,P ＜ 0.05).Conclusions The Han and Uygur pregnant women in this area both can use the thyroid reference range of our hospital during pregnancy.The establishment of thyroid reference range may avoid over-diagnosis of thyroid disease during pregnancy.Age is a possible influencing factor of hypothyroxinemia during pregnancy.

Objective To construct a survival prediction model for the patients with extramedullary plasmacytoma (EMP),and to evaluate its application value.Methods The data of the patients diagnosed as EMP from 2000 to 2019 were collected from the National Cancer Institute's Surveillance,Epidemiology,and End Results (SEER) database.Random forest algorithm was used to screen variables,multivariate Cox pro-portional hazards regression model was used to determine the independent risk factors of EMP prognosis,and a nomogram model was constructed based on these factors.The total score of the patients was calculated ac-cording to the nomogram model,and the total samples were divided into the low,medium and high risk groups according to the optimal cutoff value by using X-tile software,and the Kaplan-Meier survival curves of the three groups were analyzed.The predictive performance of the model was evaluated using area under the curve (AUC) of time-dependent receiver operating characteristic (t-ROC) curve,AUC after X years N repeated K-fold cross-validation,calibration curve,and decision curve analysis (DCA).Results A total of 1458 patients with EMP were included,including 796 cases of deletions and 662 cases of death.In the deletion and deaths groups,the majority were aged 60-<75 years old (35.4％,41.2％),male (63.1％,66.3％),white race peo-ple (81.3％,80.4％),and married (68.2％,59.4％).Finally,age (45-<60 years old/60-<75 years old/≥ 75 years old),marital status (single/others),non-primary malignant tumor,and without surgery and radio-therapy were determined to be the independent risk factors for the survival of EPM patients (P<0.05).Based on the above independent risk factors,a survival prediction model was constructed,and a nomogram was drawn.According to the optimal cutoff value,the total sample was divided into the score of 0-96 group (low risk group),score of 98-135 group (medium risk group) and score of 139-191 group (high risk group).The Kaplan-Meier survival analysis revealed that there was statistically significant difference in the survival time a-mong the three groups (P<0.0001).AUC of t-ROC curves for 1,3,5 years and AUC after cross-validation all were>0.7,indicating that the model had a good degree of differentiation.The calibration curves suggested a good consistency between the prediction and practical over survival rate,and DCA indicated that the model could improve the clinical benefits.Conclusion The constructed survival prediction model for EMP patients based on the SEER database could help the clinicians to identify the prognostic risk factors and predict the o-verall survival rate of the patients.

OBJECTIVE：To investigate the correlation between CYP2C19 gene polymorphisms and antiplatelet reactivity of clopidogrel in Xinjiang Uygur patients with acute coronary syndrome （ACS）. METHODS ：Totally 90 Uygur patients with ACS who were admitted to the cardiovascular department of Xinjiang Kashi Second People ’s Hospital from Jan. 2018 to Jan. 2019 were selected as the study subjects. They were given anti-platelet therapy of asprin+clopidogrel ，and received the treatment continuously for one year after discharge. The platelet aggregation inhibition （DPAI）rate of the patients were determined ，and the response to clopidogrel was evaluated. PCR-fluorescence probe method was used to detect genotype of CYP2C19*2 and * 3，and PCR-direct sequencing method was used to detect genotype of * 17. Multivariate Logistic regression analysis was adopted to investigate the correlation of gene and non-gene factors with DPAI of patients. RESULTS ：Among 90 patients，there were 10 patients with clopidogrel resistance （CR）and 80 patients with non-CR. There were 58，28 and 4 patients with CYP2C19*2 G/G，G/A，A/A genotype，respectively；there were 88 and 2 patients with CYP2C19*3 G/G，G/A genotype ，respectively；there were 64 and 26 patients with CYP2C19*17 C/C，C/T genotype ，respectively；the genotype frequency of each genotype was consistent with Hardy-Weinberg equilibrium （P＞0.05）. After treatment ，DAPIs of patients with CYP2C19*2 G/A，A/A genotype were decreased significantly，while those of the patients with A/A genotype were significantly lower than patients with G/A genotype patients （P＜ 0.05）. DAPIs of patients with CYP2C19*17 C/T genotype were increased significantly ，compared with C/C genotype 2016D01C087） patients （P＜0.05）. There was no statistical significance in @fudan.edu.cn DAPIs between CYP2C19*3 G/A and A/A genotype patients （P＞0.05）. Multivariate Logistic regression analysis showed 85775264@qq.com that CYP2C19 gene pol ymorphism was independently related to DPAI in Xinjiang Uygur patients with ACS [OR ＝2.314，95％CI（1.569，3.144），P＝0.009]，while age ，gender，smoking and other non-gene factors were not related to DPAI （P＞0.05）. CONCLUSIONS ：CYP2C19 gene polymorphism is associated with antiplatelet reactivity of clopidogrel in Xinjiang Uygur patients with ACS. * 2 wild type patients may have higher DPAI ，while * 17 wild type patients may have lower DPAI.

【Objective】 To retrospectively analyze the clinical manifestations, related laboratory examinations and gene mutation of 20 patients with congenital Fibrinogen disorders (CFD) admitted to our hospital from February 2017 to December 2021, so as to improve the understanding of CFD diagnosis. 【Methods】 Clinical characteristics and laboratory examination of 20 CFD patients were collected, and common secondary hypoFibrinemia factors were excluded. Gene sequencing was performed on all exons and flanks of FGA, FGB and FGG genes of 20 patients to find gene mutation sites. The peripheral blood genomic DNA was collected from the family members of two CFD patients, and the genes of the corresponding mutation sites of the proband were detected. 【Results】 The 20 CFD patients had no history of bleeding; 11 female patients had no history of spontaneous abortion; all 20 patients had reduced Fib and prolonged thrombin time (TT). There were 13 gene mutations of different types in 20 patients, among which 90% (18/20) were missense mutations, 5% (1/20) was deletion mutation, and 5% (1/20) was frameshift mutation. Seven patients (35%) had Arg35His mutation at site 104 of the FGA chain, among which 3 new gene mutations have not been reported in China. 【Conclusion】 Most CFD patients with mild or asymptomatic symptoms can be diagnosed by genetic testing and screening. FGA chain Arg35His is a mutation hotspot in this region, and all of them are Uyghur. Whether the mutation of this site is related to ethnicity needs to be confirmed by further studies.