BACKGROUND: The involvement of genetic factors in migraine has been under close investigation, and geneiic epidemiological study and segregation analysis have confirmed genetic disposition as an important risk factor for migraine.OBJECTIVE: To analyze the connection between mutations in CACNA1A gene and familial hemiplegic migraine (FHM) in southern Chinese Han patients by examining the three most frequently mutated sites in CACN1A gene.DESIGN: Sampled survey.SETTING: First Affiliated Hospital of Zhongshan University and Baoan Xixiang People's Hospital of Shenzhen City.PARTICIPANTS: All the participants were selected from patients in the above two hospitals and their relatives, including 10 patients with FHM, 12 relatives of the patients in 2 pedigrees, 53 migraine patients with aura without family history, and 10 healthy control subjects.METHODS: The exons 13, 16 and 17 of CACNL1A4 gene were amplified by PCR. Single-strand conformation polymorphism technique was employed to detect the most frequent mutations in the 3 exons (T666M, R583Q and D715E) in these subjects.MAIN OUTCOME MEASURES: ① Results of PCR amplification of the 3 exons of CACNL1A4 gene; ② Results of SSCP for mutation analysis of the 3 exons.RESULTS: Participants completed the study. The target fragment length of exons 13, 16 and 17 were 247 bp, 268 bp and 204 bp, respectively.None of mutations of T666M, R583Q and D715E were detected in the subjects, including FHM patients and their relatives, migraine patients without family history and the healthy control subjects.CONCLUSION: None of the 3 most frequent mutations (T666M, R583Q and D715E) can be detected in southern Chinese FHM pedigrees or migraine patients without family history.

Objective To compare different dose of remifentanil combined with propofol for painless abortion and approach to an appropriate dose of remifentanil.Methods Ninety pregnant women with ASA 1 were randomly divided into three groups(n=30)before administrating remifetanil,a bolus midazolam 1 mg was injected inminutes later.These two drugs did not stop administration until three minutes before the end of negative suction.MAP,HR,SpO2,BIS,RR,VT,PET CO2 were monitored.The onset,operation and recovery time,sedation score and adverse reaction were recorded.Results Sedation scores were significantly different between group A and C [(3.90±0.97)and(4.90±0.85),t=4.24,P＜0.01].Three cases in group A were found moving.MAP,HR,BIS decreased as compared witll baseline.HR reduced significantly in group C(P＜0.05,P＜0.01).Respiratory movement was lower and shallower.RR,VT decreased compared to preoperative one.PET C02 increased gradually (P＜0.05,P＜0.01).There were two cases of respiratory depressing in group A,four cases in group B and ten cases in group C(five cases apnea more than three minutes).All patients used oxygen mask to maintain SpO2＞95%.Incidence of adverse reactions such as chest titanic,nausea and vomiting,itching were of no difference among three groups(P＞0.05).All patients were satisfied with anesthesia.Conclusion The appropriate infusing dose of remifetory devices such as oxygen mask and monitoring life signs are very important to prevent respiratory depress and bradycardia during operation.

Objective Serological characteristic analysis for patients with autoimmune hemolytic anemia(AIHA)who has cold and warm auto‐antibody when undergoing blood type and cross‐matching .Methods Choosed 3 donors of red blood cells of group O to absorb autoantibodies of the patient′s serum(by using the methods of cold absorption) and used 2‐mercaptoethanol(2‐Me) to de‐stroyed the IgM antibody .Results The patient of AIHA blood type was B+ .There was cold and warm auto‐antibody in the pa‐tient′s serum ,and the result of cross‐matching is incompatible .Conclusion The patient′s serum contains cold and warm auto‐anti‐body which interferes blood type and cross‐matching .In emergency ,considering the patients condition ,blood transfusion combined with the drug treatment could achieve good effects .

Objective To analysis the related influencing factors and explore the approach of improving the effect of platelet transfusion through compared the posttransfusion effect of matched-type with random platelet transfusion.Methods Analysis the results of platelet antibody screening test and matched-type test in our hospital′s inpatients during July 2013 to June 2014,who applied for platelet transfusion.The influence of sex,blood transfusion history,pregnant history on the antibody were analyzed.The factors of sex,times of blood transfusion,pregnant times,platelet component sorts,storage time,combined with other components,platelet antibody (positive or negative) and transfusion matched-type platelet on the effect of platelet transfusion were analyzed.Application in our clinical blood transfusion intelligent management and evaluation system to evaluate the effect of platelet transfusion.Results Totally 812 patients′ platelet antibody were screened.Then we randomly selected 87 antibody positive inpatients were selected and 1 247 U plateletswere transfused,which including matched-type platelet transfusion for antibody screening positive patients,random platelet transfusion for antibody screening positive patients,random platelet transfusion for antibody screening negative patients,there were statistical difference (P<0.05).With Logistics regresion analysis,the history of blood transfusion was an independent risk factor for platelet antibody production (P<0.05,OR=13.104,95%CI:7.784-22.061).Sex (P<0.05,OR=1.629,95%CI:1.236-2.148),transfusion times,different platelet component sorts (leukocyte-reduced platelets aphaeresis and irradiation leukocyte-reduced platelets aphaeresis),different storage time,transfusion combined with other components (RBC)(P<0.05,OR=2.464,95%CI:1.053-5.765),transfusion matched-type platelet(P<0.05,OR=0.576,95%CI:0.389-0.854) were the risk factors for platelet transfusion.Conclusion Matched-type test should be done to improve efficiency when the platelet antibody screening were positive.Sex,times of blood transfusion,platelet component sorts,storage time,combine with other components,transfusion matched-type platelet couldinfluence the effect of platelet transfusion.

Objective:To investigate the expressions of HIF-1α, BRD4, Beclin1, LC3B and p62 in breast cancer tissues and their clinicopathological significance, and to study alterations of their expression in breast cancer cells under hypoxic microenvironment.Methods:Immunohistochemistry was used to detect HIF-1α, BRD4, Beclin1, LC3B and p62 protein expressions in 125 breast cancer tissues and 50 para-cancer normal breast tissues, and their correlation with clinicopathologic characteristics were analyzed. The expression of these proteins were also measured after 24 hours of hypoxia stimulation was detected in different breast cancer cell lines and normal breast epithelial cells.Results:The expression of HIF-1α, BRD4, Beclin1 and LC3B proteins in breast cancer tissues were significantly higher than in para-cancer normal breast tissues ( P<0.05). There was a positive association between histologic grade, the expression of HIF-1α, BRD4, Beclin1 and LC3B ( P<0.05). High expressions of HIF-1a and Beclin1 were often correlated with lymph node metastasis and lymphatic invasion ( P<0.05). Increased HIF-1α, BRD4, Beclin1 and LC3B expression was associated with ER or PR negativity, but only HIF-1α was associated with HER2 positivity ( P<0.05). HIF-1α, BRD4, Beclin1, and LC3B were positively correlated with each other in breast cancer tissues ( P<0.01). After 24 hours of hypoxic stimulation, the expression of HIF-1α, BRD4, Beclin1 and LC3B was up-regulated in breast cancer cells. Conclusions:Hypoxia induces autophagy in breast cancer tissues. HIF-1α is positively correlated with BRD4, suggesting that BRD4 is involved in the regulation of autophagy by hypoxic microenvironment in breast cancer. High expression of HIF-1α, BRD4 and autophagy may play an important role in the development of breast cancer.

Objective:To discuss the method for establishing the rat models of irritable bowel syndrome(IBS)by chronic water avoidance stress(WAS)method,and to evaluate its feasibility.Methods:Thirty male Wistar rats were randomly divided into control group(n=10)and model group(n=20).The rats in model group were induced by WAS method for 1 h everyday,lasting for 10 consecutive days;the rats in control group underwent no interventions.After modeling,the general conditions and body weights of the rats in two groups were observed and recorded.The elevated plus maze(EPM)test was used to detect the percentages of the number of open arm entries(OE)and the time spent in open arms(OT)of the rats in two groups;the abdominal withdrawal reflex(AWR)test was used to assess the visceral sensitivity of the rats in two groups;electrocardiography was used to detect the heart rate variability(HRV)of the rats in two groups;electromyography(EMG)of the external oblique muscle was used to detect the colorectal pain sensitivity thresholds of the rats in two groups;multi-channel physiological signal recorder was used to monitor the slow wave frequency of the colon of the rats in two groups.Results:There were no death rats in both groups during the modeling period.After modeling,the rats in model group exhibited poor mental status,reduced spontaneous activity,hypoactivity,disordered and dull fur,irritability,and unclean anal areas;whereas,the rats in control group showed no significant changes in the mental state,spontaneous activity,fur,and perianal area.Compared with control group,the body weight of the rats in model group was significantly decreased(P<0.05).The EPM test results showed that compared with control group,the OE percentage and OT percentage of the rats in model group were significantly decreased(P<0.01).The AWR test results showed that 12 rats in model group scored≥3 points,indicating that the successful rate in creating the visceral pain models was 60%.Compared with control group,the low frequency(LF)signals and the ratio of LF/high frequency(HF)of the rats in model group were significantly increased(P<0.01),and the HF was significantly decreased(P<0.05).The EMG results showed that compared with control group,the coloretal pain sensitivity threshold of the colon of the rats in model group was significantly decreased(P<0.01),and the slow wave frequency of the colon was significantly increased(P<0.01).Conclusion:The WAS method for establishing the rat model of IBS effectively demonstrates the changes in behavior and mental state,increased the visceral sensitivity,accelerated colonic slow wave frequency,and autonomic nervous system imbalance;the WAS method can serve as an effective modeling approach for observing and evaluating the related drugs and interventions on treatment of IBS.

Objective: To investigate the spectrum of gene mutations in adult patients with B-acute lymphoblastic leukemia (B-ALL), and to analyze the influences of different gene mutations on prognosis. Methods: DNA samples from 113 adult B-ALL patients who administered from June 2009 to September 2015 were collected. Target-specific next generation sequencing (NGS) approach was used to analyze the mutations of 112 genes (focused on the specific mutational hotspots) and all putative mutations were compared against multiple databases to calculate the frequency spectrum. The impact of gene mutation on the patients’ overall survival (OS) and recurrence free survival (RFS) was analyzed by the putative mutations through Kaplan-Meier, and Cox regression methods. Results: Of the 113 patients, 103 (92.0%) harbored at least one mutation and 29 (25.6%) harbored more than 3 genes mutation. The five most frequently mutated genes in B-ALL are SF1, FAT1, MPL, PTPN11 and NRAS. Gene mutations are different between Ph⁺ B-ALL and Ph^- B-ALL patients. Ph^- B-ALL patients with JAK-STAT signal pathway related gene mutation, such as JAK1/JAK2 mutation showed a poor prognosis compared to the patients without mutation (OS: P=0.011, 0.001; RFS: P=0.014,<0.001). Patients with PTPN11 mutation showed better survival than those without mutation, but the difference was not statistically significant (P value > 0.05). Besides, in Ph⁺ B-ALL patients whose epigenetic modifications related signaling pathway genes were affected, they had a worse prognosis (OS: P=0.038; RFS: P=0.047). Conclusion Gene mutations are common in adult ALL patients, a variety of signaling pathways are involved. The frequency and spectrum are varied in different types of B-ALL. JAK family gene mutation usually indicates poor prognosis. The co-occurrence of somatic mutations in adult B-ALL patients indicate the genetic complex and instability of adult B-ALL patients.

【Objective】 To investigate the impact of ABO blood group compatibility and incompatibility(major /minor/bidirectional incompatibility) on the outcomes of patients underwent allogeneic hematopoietic stem cell transplantation(allo-HSCT), and to provide evidences for optimizing the transplantation program. 【Methods】 From January 2014 to June 2018, we retrospectively reviewed the clinical courses of 18 recipients of allo-HSCT from ABO-compatible donors and 52 from ABO-incompatible donors at our hospital. The implantation time of granulocyte/erythrocyte/megakaryoblast, RBC/platelet transfusions within 3 months posttransplantation, the initiating and completion time of ABO blood group conversion(for ABO-compatible donors only) were analyzed and compared among the ABO-incompatible and ABO-compatible donors as such variables including demographic data, donor and patient relationship, diagnosis of disease, bone marrow hematopoietic function prior to transplantation, HLA matching were not significant different. 【Results】 For 18 recipients of allo-HSCT from ABO-compatible donors, the implantation time of granulocyte, erythrocyte, megakaryoblast was 12.0(11.0~16.3), 41.5 (35.0~49.0) and 19.0(16.0~22.5)days, respectively. For 52 recipients of allo-HSCT from ABO-incompatible donors, the ABO blood group conversion was initiated at 28.0(22.5~44.0)days posttransplantation and completed at 105.5(85.0~141.8)days. In the ABO-compatible group, the time of erythrocyte implantation was shortened(P<0.05), and less RBC /platelet transfusions were required as compared with the ABO major and bidirectional incompatible group, except for the time of granulocyte and megakaryoblast implantation(P>0.05), no significant difference was observed between these two variables. The blood group conversion time, implantation time of granulocyte/erythrocyte/megakaryoblast, and RBC /platelet transfusions among ABO major, minor and bidirectional incompatible groups were not significant different (P>0.05). 【Conclusion】 ABO-compatiblity enjoys priority in allo-HSCT. ABO-incompatiblity can be chosen in the order of minor, major and bidirectional incompatibility in the absence of ABO-compatiblity.

【Objective】 To analyze the distribution of unexpected antibodies in tumor patients retrospectively and explore the clinical significance. 【Methods】 Unexpected antibody screening was performed on inpatients with blood preparation and blood transfusion in our hospital from January 2004 to December 2022, with 1 176 cases tested positive, and the types of unexpected antibodies and distribution characteristics were statistically analyzed. 【Results】 Unexpected antibodies were screened in 1 176 cases, with the positive rate at 1.05% (1 176/111 483). The unexpected antibodies were mainly anti-E 16.33%(192/1 176), anti-M 7.99% (94/1 176), anti-Mur 5.70% (67/1 176) and anti-Le^a 4.76% (56/1 176). Among the 1 176 cases, gastrointestinal tumors accounted for 27.99% (329/1 176), gynecological tumors accounted for 24.84% (292/1 176), respiratory tumors accounted for 16.67% (196/1 176) . 【Conclusion】 The influencing factors of unexpected antibodies in tumor patients were disease type, blood transfusion history and blood type. Therefore, it is necessary for clinical departments to carry out unexpected antibody screening and perform Rh blood type matched transfusion for tumor patients to avoid alloantibody production.