Clinical and genetic diagnosis for 26 paitents with hereditary spherocytosis / 中南大学学报(医学版)

OBJECTIVES@#Hereditary spherocytosis (HS) is the most common hereditary defect of the red cell membrane, mainly characterized by anemia, jaundice, and splenomegaly. Due to the atypical clinical manifestations and negative family history of some patients, as well as the low sensitivity and specificity of traditional laboratory examinations, it is easy for it to escape diagnosis or be misdiagnosed. At present, it has been confirmed that the mutation of ANK1, SPTB, SPTA1, SLC4A1 and EPB42 genes can cause the deletion of their corresponding coding proteins, and thus lead to the defect of erythrocyte membrane. This study aims to analyze the feasibility and clinical application value of HS gene diagnosis.@*METHODS@#Data of 26 patients from Hunan, China with HS admitted to the Department of Hematology, Second Xiangya Hospital of Central South University from January 2018 to September 2021 were retrospectively collected, and their clinical manifestations and results of laboratory examinations were analyzed. Next-generation sequencing (NGS) combined with Sanger sequencing were applied. The mutation of HS pathogenic gene and the variation of uridine diphosphate-glucuronosyl transferase 1 family polypeptide A1 (UGT1A1), a key enzyme in the regulation of bilirubin metabolism, were detected. The results of pathogenic gene variations were interpreted pathogenic gene variations in accordance with the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics (ACMG). The clinical characteristics of patients with different gene variants were analyzed, and the clinical diagnosis and genetic diagnosis were compared.@*RESULTS@#Among the 26 patients with HS, there were 23 cases of anemia, 25 cases of jaundice, 24 cases of splenomegaly, and 14 cases of cholelithiasis. There were 16 cases with family history and 10 cases without family history. The results of HS mutation test were positive in 25 cases and negative in 1 case. A total of 18 heterozygous mutations of HS pathogenic genes were detected in 19 families, among which 14 were pathogenic, 1 was likely pathogenic and 3 were of unknown significance. SPTB mutations (12) and ANK1 mutations (4) were the most common. The main variation types were nonsense mutation (9). There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the SPTB mutant group and the ANK1 mutant group (all P>0.05). The rate of splenectomy in ANK1 mutation group was higher than that in SPTB mutation group, and the difference was statistically significant (χ2=6.970, P=0.014). There were no significant differences in peripheral blood cell parameters and hemolysis indicators among different mutation types (nonsense mutation, frameshift mutation, splice site mutation and missense mutation) (all P>0.05). Among the 18 clinically confirmedpatients, there were 17 cases whose diagnosis is consistent with the genetic diagnosis. Eight patients were clinically suspected, and all of them were confirmed by detection of HS gene mutation. Twenty-four patients with HS underwent UGT1A1 mutation detection, among which 5 patients carried UGT1A1 mutation resulting in a decrease in enzyme activity, and 19 patients had normal enzyme activity. The level of total bilirubin (TBIL) in the group with reduced enzyme activity was higher than that in the group with normal enzyme activity, and the difference was statistically significant (U=22, P=0.038).@*CONCLUSIONS@#Most patients with HS have anemia, jaundice and splenomegaly, often accompanied by cholelithiasis. SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hunan, China, and there was no significant correlation between genotype and clinical phenotype. Genetic diagnosis is highly consistent with clinical diagnosis. The decrease of UGT1A1 enzyme activity can lead to the aggravation of jaundice in HS patients. Clinical combined gene diagnosis is beneficial for the rapid and precision diagnosis of HS. The detection of UGT1A1 enzyme activity related gene variation plays an important role in evaluation of HS jaundice.

Analysis of prognostic factors in patients with pancreatic body and tail carcinoma / 中华胰腺病杂志

Objective:To investigate the prognostic factors of patients with pancreatic body and tail carcinoma.Methods:The clinical data of 64 patients with pancreatic body and tail carcinoma who underwent surgical resection or endoscopic ultrasound biopsy and were pathologically confirmed in the Second Affiliated Hospital of Jiaxing University from January 2013 to March 2020 were retrospectively analyzed. Age, gender, diabetes mellitus, serum CEA and CA19-9 levels at initial diagnosis, tumor site, maximum tumor diameter, TNM stage and treatment method were collected. Kaplan-Meier method was used to draw survival curve, and Log-rank test was used to analyze survival rate. Univariate and multivariate Cox proportional risk regression models were used for prognostic analysis.Results:Among the 64 patients, 24 patients were complicated with diabetes; serum CEA level was increased in 36 cases, and serum CA19-9 level was increased in 46 cases; 8 cases were in TNM stage ⅠA, 4 cases were in ⅠB stage, 4 cases were ⅡA stage, 4 cases were in ⅡB stage, 8 cases were in Ⅲ stage, and 36 cases were in Ⅳ stage. Symptomatic treatment was performed in 18 cases, chemotherapy combined with immunotherapy were in 18 cases, and surgical comprehensive therapy (surgery combined with chemotherapy and immunotherapy) were in 26 cases. Univariate analysis showed that diabetes mellitus, serum CEA and CA19-9 levels, TNM stage and treatment mode were related factors affecting the prognosis of patients with pancreatic body and tail carcinoma (all P value <0.05). Multivariate analysis indicated that TNM stage ( HR=2.536) and surgical comprehensive therapy ( HR=0.285) were the independent factors affecting the prognosis of patients with pancreatic body and tail carcinoma ( P<0.05). Median survival was 25 months (95% CI 21.416-28.584) for patients with TNM stage Ⅲ+ Ⅳ pancreatic body and tail carcinoma treated with surgical comprehensive therapy, 11 months (95% CI 7.246-14.754) for patients treated with chemotherapy combined with immunotherapy, and 6 months (95% CI 3.819-8.181) for patients treated with symptomatic treatment; the median survival time of patients with surgical comprehensive therapy was significantly longer than that of patients with chemotherapy combined with immunotherapy and symptomatic treatment, and the difference was statistically significant ( P<0.05). Conclusions:TNM stage and surgical comprehensive therapy were the prognostic factors affecting the prognosis of patients with pancreatic body and tail carcinoma, and surgical comprehensive therapy may be the best choice for long-term survival of patients.

Association between manganese superoxide dismutase gene Val16Ala polymorphism and breast cancer in Hainan province / 肿瘤研究与临床

Objective:To investigate the relationship of manganese superoxide dismutase (MnSOD) gene Val16Ala polymorphism with the occurrence and progression of breast cancer in Hainan province.Methods:Two hundred and two breast cancer patients who were admitted to the Affiliated Hospital of Hainan Medical College from January 2014 to December 2015 and 184 healthy female volunteers (control group) who underwent the physical examination during the same period were selected. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the MnSOD gene Val16Ala polymorphism, and the correlations of different alleles and genotypes with occurrence of breast cancer were compared.Results:The frequency of Ala alleles in the experimental group and control group was 15.3% (62/404) and 13.9% (51/368), respectively. There was no statistical difference in the distributions of 2 alleles and 3 genotypes Val/Val, Val/Ala and Ala/Ala between the experimental group and the control group (all P > 0.05). There was no statistical difference in the frequency of 2 alleles and 3 genotypes before and after menopause between the experimental group and the control group (all P > 0.05). Ala alleles were associated with lymph node metastasis (OR = 1.79, 95% CI 1.04-3.08, χ 2 = 4.457, P < 0.05) and TNM stage (OR = 1.95, 95% CI 1.11-3.41, χ 2 = 5.657, P < 0.05). Conclusion:MnSOD gene Val16Ala polymorphism has no correlation with the occurrence of breast cancer in Hainan province, but it may play a role in promoting tumor progression.

Clinical Observation of Crizotinib in the Treatment of ALK Positive Advanced Lung Adenocarcinoma / 中国药房

OBJECTIVE： To observe the efficacy and safety of crizotinib in the treatment of anaplastic lymphoma kinase （ALK） positive advanced lung adenocarcinoma. METHODS： From Aug. 2015 to May 2017， 72 patients with ALK positive advanced lung adenocarcinoma were selected from our hospital. According to the simple random method， the patients were divided into control group and observation group， with 36 patients in each group. The control group was given Pemetrexed disodium for injection 500 mg/m2，d1， ivgtt+ Cisplatin for injection 75 mg/m2，d1-3，ivgtt； Dexamethasone acetate tablets 0.75 mg were given orally one day before administration， once in the morning and again in the evening； 7 days before administration， Folic acid tablets 0.4 mg were given orally till 21 days after the last administration of cisplatin； Vitamin B12 1 mg injection was injected intramuscularly every 3 weeks after intramuscular injection of cisplatin. Isotonic Glucose injection 100 g was intravenously dripped 1 day before medication； on the day of chemotherapy， isotonic Sodium chloride injection or Glucose injection was infused intravenously for 3 000-3 500 mL； at the same time， Potassium chloride injection 0.5 g， Mannitol injection 50 g， Furosemide injection 20 mg were given to ensure daily urine volume of 2 000-3 000 mL； a treatment course lasted for 21 d， and there were 2 courses in total. Observation group was additionally given Crizotinib capsules 250 mg orally， once at 7：00 in the morning and evening， swallowing whole capsule， not chewed or dissolved， for 42 days. The clinical efficacies， survival quality and the occurrence of toxic reaction were observed in 2 groups. RESULTS： Total response rate （61.11％） and stable rate of survival quality （83.33％） in observation group were significantly higher than those （27.78％， 44.44％） of control group （P＜0.05）； incidence of grade Ⅰ-Ⅳ myelosuppression， gastrointestinal reaction， abnormal liver function， peripheral neuritis and alopecia in observation group were significantly lower than those of control group； incidence of grade Ⅰ-Ⅳ visual effect in observation group was significantly higher than control group（P＜0.05）. There was no statistical significance in the incidence of edema between 2 groups（P＞0.05）. CONCLUSIONS： Based on routine chemotherapy， additional application of crizotinib can significantly improve therapeutic efficacy of patients with advanced ALK positive lung adenocarcinoma， and effectively improve survival quality of patients without increasing the occurrence of toxic reaction of other tissues or organs， but the incidence of toxic reaction is in high level relatively.

The in vivo thrombosis evaluation for the biodegradable polymer stent / 生物医学工程学杂志

New biodegradable intravascular stent can reduce risk of foreign bodies retained, thus, it is widely concerned and some of the products have been introduced into the clinic. However, the characteristic of biodegradable may lead to more safety concerns associated with thrombosis. To ensure the safety, the thrombus formation experiment needs to be carefully designed and evaluated based on GB/T 16886.4 standard, but current standard do not provide explicit testing and evaluating methods. Establishing animal model with experimental pigs, the study compares biodegradable coronary stents and metal stents by simulating clinical implantation on the thrombus formation in the implanting process, and after the short-term and long-term implantation. The evaluation methods include gross observation, digital subtraction angiography intraoperative analysis, optical coherence tomography analysis, scanning electron microscopy and so on. The results show that combining these methods could comprehensively evaluate the whole process of the thrombus formation from the beginning of implantation to the end of preclinical animal experiments, so that, it may better predict the clinical thrombosis risk, and the selection of the control was very important. The study tries to use the comparison examples of thrombosis on the new medical instrument to provide the clue for thrombosis evaluation on similar instruments and show the methodology on the preclinical evaluation.

Application value of serum LDH in advanced non-small cell lung cancer patients treated with EGFR-TKI / 国际肿瘤学杂志

Objective To investigate the value of serum lactate dehydrogenase (LDH) in advanced non-small cell lung cancer (NSCLC) treated with epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitor (TKI).Methods Pretreatment LDH level,pathological characteristic,tumor staging and treatment situation of 190 advanced NSCLC patients with EGFR sensitive mutation confirmed by pathology were retrospectively collected in Zhuhai People's Hospital of Guangdong Provice from July 2011 to July 2015.All the patients were divided into LDH normal group (LDH ≤252 U/L,n =78) and elevated group (LDH ＞ 252 U/L,n =112) according to pretreatment LDH level.Inaging evaluations of the patients were performed regularly,and the progression-free survival (PFS) and overall survival (OS) were recorded.The survival curves were plotted by Kaplan-Meier method and survival difference between patients with different LDH level was compared by logrank test.Cox regression analysis was used to analyze prognostic factors for mortality.Results The objective response rate of the LDH normal group was 76.9％ (60/78),and the elevated group was 71.4％ (80/112),with no statistically significant difference (x2 =0.716,P =0.398).The disease control rate of the LDH normal group was 89.7％ (70/78),and the elevated group was 85.7％ (96/112),with no statistically significant difference (x2 =0.676,P =0.411).The median PFS of the LDH normal group was 11.5 months,and the elevated group was 9.7 months (x2 =5.92,P =0.015).The median OS was 31.0 months in the LDH normal group,and 26.1 months in the elevated LDH group (x2 =4.79,P =0.029).Both PFS and OS of patients with elevated LDH were shorter than those of patients with normal LDH.Cox multivariate regression analysis showed that tumor staging (HR =1.652,95％ CI:1.386-2.259,P =0.018),PS score (HR =2.248,95％ CI:1.507-3.846,P ＜ 0.001),carcino-embryonic antigen (CEA) level (HR =1.250,95％ CI:1.066-1.703,P =0.037) and LDH level (HR =1.771,95 ％ CI:1.324-1.947,P =0.015) were independent prognostic factors in patients with advanced NSCLC.Conclusion Pretreatment serum LDH can not affect the objective response rate and disease control rate of EGFR-TKI in the treatment of advanced NSCLC,but can affect the PFS and OS of patients.Pretreatment serum LDH is an independent prognostic factor.

Correlations between serum cystatin C levels, cystatin C gene polymorphisms and metabolic syndrome of Chinese Zhuang and Han Population in Guangxi region / 临床检验杂志

Objective To investigate the correlations of serum cystatin C levels,cystatin C gene + 148 and + 73 polymorphism and metabolic syndrome (MS) of Chinese Zhuang and Han population in Guangxi region.Methods A hundred MS patients and healthy individuals for each group of Zhuang and Han population were selected in this study.Serum cystatin C levels were determined by immunoturbidimetric assay.Gene polymorphism of CysC + 148 and + 73 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).The correlations between serum CysC level,CysC gene polymorphism and MS in Zhuang and Han population were analized.Results There were significant differences of serum CysC levels between the two MS groups and healthy controls group (all P ＜ 0.05),but no significant difference of the genotype frequencies of CysC + 73 and CysC + 148 in the four groups was observed (x2 =3.139,P =0.791;x2 =4.841,P =0.564).The serum Cys C levels of CysC + 73 GG genotype in both MS groups were lower than those of CysC + 73 AG and AA genotype with statistically significant differences (all P ＜ 0.05).The serum Cys C levels in MS groups were correlated with serum creatinine levels (P ＜ 0.01) and CysC + 73 gene polymorphism (P ＜ 0.01).Conclusion The serum Cys C level of the MS patients in Zhuang and Han population may vary with the genotype of CysC + 73 genetic variant,and associate with serum creatinine level.

Study on relations between cystatin C and its polymorphism and metabolic syndrome in Zhuang population of Guangxi district / 国际检验医学杂志

Objective To investigate the correlation of cystatin C(Cys C) serum level and its gene polymorphism among Zhuang population with Metabolic Syndrome(MS) of Guangxi district.Methods The levels of serum Cys C in Zhuang MS patients,Han MS patients,Zhuang normal people and Han normal people(each of 100 cases)were detected by Immunoturbidimetric Assays.Cys C +148,Cys C+73 and Cys C-82 genotyping were conducted by using PCR-RFLP.Results The clinical data and serum Cys C levels of four groups were significantly different(P＜0.05),The clinical data and serum Cys C levels of two CHD groups were significantly different from those in the two normal groups(P＜0.05);(2) There was a positive correlation between Cys C levels and creatinine(Cr) level in peripheral blood(r=0.551,P=0.000);(3) There was no significant difference in the genotype frequencies of Cys C+73,Cys C+ 148 and Cys C-82 in 4 groups(x2 =3.139,0.791;x2 =4.841,P=0.564;x2 =3.207,P=0.782);(4)Cys C level in MS patients of Cys C+73 GG genotype was significantly lower than that of AG and AA genotype,and the difference was statistically significant (P ＜ 0.05).But there was no significant difference in Cys C level between AG type and AA type.Conclusion The high level of Cys C caused by impaired renal function may be a risk factor for MS patients in Zhuang and Han population in Guangxi.Cys C+73 locus gene polymorphism and the relationship between MS patients in Guangxi Zhuang population need further study.

Comparative Study of Cystatin C and Its Gene Polymorphism of Patients with Coronary Heart Disease between Zhuang and Han in Guangxi Region / 现代检验医学杂志

Objective To investigate the difference of serum levels of cystatin C and its gene polymorphism of patients with CHD and normal people between Zhuang and Han in Guanxi region.Methyds The levels of serum cystatin C in Zhuang CHD patients,Han CHD patients,Zhuang normal people and Han normal people(each of 100 cases)were detected by Immunoturbidimetric Assays,Cys C + 148 and Cys C-82 genotypes were conducted by using PCR-RFLP,and that data and clinical data were analyzed.Results The difference of Cys C levels and clinical data between two CHD groups and two normal groups were statically significant (all P＜0.05).①The Cys C levels of two CHD groups was not statically significant difference (P=0.156).②The CysC+148 and Cys C-82 of 4 groups conform the Hardy-Weinberg population genetic equilibrium law (all P＞0.05).The genotypes frequency difference of Cys C+148 and Cys C-82 between two CHD groups and two normal group were no statically significant (x2 =0.760～2.090,P＞0.05).③The serum Cys C level and Cr of CHD group were positively correlated (r=0.597,P＜0.001).Conclusion The correlation Cys C+ 148,-82 polymorphism and Guangxi Zhuang CHD were in need of further study,but the kidney damage caused by the high serum Cys C level may be a risk factor for Guangxi Zhuang and Han CHD patients.

Clinical analysis of 45 cases of paediatric lobar pneumonia / 中国基层医药

Objective To characterize the clinical features and the prognosis of paediatric lobar pneumonia. Methods Clinical data of 45 cases with paediatric lobar pneumonia,such as clinical manifestations,symptom, pathogens and prognosis were retrospectively analyzed.Results Of the 45 patients,45 cases had cough,43 cases with fever,15 cases with pain in the chest,13 cases wtih cutaneous lesions,35 cases wtih antibody of mycoplasma positive, 6 cases wtih Staphylococcus aureus infection,21 cases wtih Streptococcus pneumonia infection,cardiovascular and digestive system were involved besides lung,secondly nervous system involved.After treatment,29 cases were cured, 15 cases improved,1 case transferred other hospital.Conclusion Paediatric lobar pneumonia caused by decreased gradually,but increased by virus and other bacteria.Cases of paediatric pneumonia with fever,cough,pulmonary symptom should be tested by laboratory finding,especially antibody and X ray or CT in order to identify pathogenesis of disease,thus to be treated correctly,dosage and course of antibiotics should be also enough.

Clinical study of capecitabine or S-1 as maintenance treatment to patients with advanced gastric cancer / 实用医学杂志

Objective To evaluate the efficacy and adverse effect caused by capecitabine compared with S-1 as maintenance treatment of patients with advanced gastric cancer (AGC). Methods A total of 123 AGC patients who did not suffer disease progression after first-line chemotherapy were randomized into three groups. The capecitabine group(Cap)received maintenance chemotherapy with capecitabine(1000 mg/m2 twice daily for 14 days,21 days/cycle),and the S-1 group(S1)received S-1(40,50,or 60 mg according to the body surface area and orally administered twice a day for 14 days ,21 days/cycle). The observation group was given the support-ive treatment. Patients kept this chemotherapy regimens until disease progressed or with intolerant toxicity. Re-sults The disease control rate was 70.7%in the Cap group and 80.5%in the S1 group(P=0.304). The median time of progression was 8.3 months in the Cap group and 8.5 months in the S1 group(P = 0.448). Maintenance chemotherapy groups showed better responses in the treatment group than the observation group ,which demonstrat-ed a median progression of 6.7 months(P<0.001). The median overall survival time was 15.3 months in the Cap group and 15.7 months in the S1 group(P = 0.637). Maintenance chemotherapy groups showed better responses than the observation group ,which demonstrated a median survival of 12.8 months (P < 0.05). The main side effects included hyperpigmentation,bone marrow suppression,nausea and vomiting and hand-foot syndrome. No death occurred in relation to the therapy. Conclusion The effectiveness of capecitabine and S-1 as maintenance chemotherapy in AGC patients after the first-line chemotherapy are similar,and both can prolong the time of overall survival. And the adverse reactions can be tolerated.

Application of 3D ultrasound VOCAL technique in the detection of fetal thorax / 中华超声影像学杂志

Objective To establish the normal data of the fetal thorax,and to evaluate its values in the diagnosis of fetal thorax malformation.Methods Totally 398 normal singleton fetuses at 16 to 36 gestational weeks(GW) were enrolled,2D-US and 3D-US VOCAL technique were used to measure the 2D data and 3D volumes on the transverse section at the level of the four-chamber view,and the correlation among all measurements with GW was analyzed.Thirty fetuses collected randomly were examined to analyze the reliability.Nine fetuses with congenital thoracic dysplasia (CTD) and 10 fetuses with congenital diaphragmatic hernia (CDH) were assessed and compared with the normal fetuses.Results ① In healthy controls,the fetal thoracic 2D measurements and 3D volumes increased along with the growth of the GW.The regression equations were listed as follows:thoracic transverse diameter (cm) =-0.002 GW2 + 0.301 GW-1.510;thoracic anteroposterior diameter (cm) =0.003GW2 + 0.046GW + 0.666;thoracic area (cm2) =0.071GW2-1.466 GW + 14.728;thoracic circumference (cm) =0.01GW2 + 0.313GW + 3.341;thoracic volume (cm3) =0.285 GW2-7.797GW + 66.592;lung volume (cm3) =0.178 GW2-5.317GW + 45.539;the ratio of lung volume to thoracic volume =0.005GW + 0.396.② The reliabilities of the data obtained by the same/two different operators were good.③ CTD group was obviously lower than the healthy controls in all thoracic measurements (all P ＜0.01).There was no statistical difference in the 2D data between the CDH group and healthy controls (P ＞0.05),while the 3D volumes and the ratio of lung volume to thoracic volume were obviously lower than those in the healthy controls (P ＜0.01).Conclusions 2D-US can evaluate the fetal thoracic development and malformation preliminarily,but 3D-US VOCAL technology plays an important role in distinguishing different types of thoracic malformations.

Effect of psychosomatic therapy on pain control in patients with gynecological malignant tumor / 中国实用护理杂志

Objective To explore the effect of psychosomatic therapy on pain management in patients with gynecological malignant tumor, and to provide theoretical basis for improving the quality of pain management. Methods A total of 156 patients with gynecological malignant tumors were selected and 75 cases from August to November in 2015 were as the control group and 75 cases from December 2015 to March 2016 were as the intervention group. The control group received routine care in the wards, and the intervention group received psychosomatic therapy based on relaxation, image guidance, music therapy and personalized psychological counseling on the basis of routine nursing. The pain evaluation indexes of the two groups were compared. Results The number of the mild, moderate and severe pain in the intervention group were 56, 19, and 0, respectively, and 37, 41 and 3 in the control group, respectively. The difference between the 2 groups was statistically significant (Z=5.751, P<0.05). The number of the invalid, mild, obvious, complete remission of patients with cancer pain in the intervention group were 8, 14, 25, 28, respectively, and 18, 27, 21, 15 in the control group, respectively. The difference between the 2 groups was statistically significant (Z=2.081, P<0.05). The influence degree of pain on sleep was (4.96 ± 1.26) points in the intervention group and (5.72 ± 1.32) points in the control group, the difference was statistically significant (t=3.638, P<0.05). The satisfaction degree of pain control was (3.39 ± 1.15) points in the intervention group and (2.94 ± 0.74) points in the control group, and the difference was statistically significant (t=2.931, P<0.05). In the intervention group, 81.33％ (61/75) of one drug controlled pain program was used, which was higher than 64.20％ (52/81) of the control group (χ2=5.727, P<0.05). Conclusions Psychosomatic therapy can effectively relieve the pain of patients with gynecologic malignant tumor, and has guiding significance for the management of patients with cancer pain.

Study on relations between cystatin C and its polymorphism and metabolic syndrome in Zhuang population of Guangxi district / 国际检验医学杂志

Objective To investigate the correlation of cystatin C(Cys C) serum level and its gene polymorphism among Zhuang population with Metabolic Syndrome(MS) of Guangxi district.Methods The levels of serum Cys C in Zhuang MS patients,Han MS patients,Zhuang normal people and Han normal people(each of 100 cases)were detected by Immunoturbidimetric Assays.Cys C +148,Cys C+73 and Cys C-82 genotyping were conducted by using PCR-RFLP.Results The clinical data and serum Cys C levels of four groups were significantly different(P＜0.05),The clinical data and serum Cys C levels of two CHD groups were significantly different from those in the two normal groups(P＜0.05);(2) There was a positive correlation between Cys C levels and creatinine(Cr) level in peripheral blood(r=0.551,P=0.000);(3) There was no significant difference in the genotype frequencies of Cys C+73,Cys C+ 148 and Cys C-82 in 4 groups(x2 =3.139,0.791;x2 =4.841,P=0.564;x2 =3.207,P=0.782);(4)Cys C level in MS patients of Cys C+73 GG genotype was significantly lower than that of AG and AA genotype,and the difference was statistically significant (P ＜ 0.05).But there was no significant difference in Cys C level between AG type and AA type.Conclusion The high level of Cys C caused by impaired renal function may be a risk factor for MS patients in Zhuang and Han population in Guangxi.Cys C+73 locus gene polymorphism and the relationship between MS patients in Guangxi Zhuang population need further study.

Detection and clinical research of FMS-like tyrosine kinase-3, NPM1 and c-kit genes in bone marrow slides of patients with acute myeloid leukemia / 白血病·淋巴瘤

Objective To study the FMS-like tyrosine kinase-3 (FLT3) gene, NPM1 gene and c-kit gene mutations in acute myeloid leukemia (AML) by extracting DNA from the storage of bone marrow slides, and to investigate the relationship between the three gene mutations and clinical features in AML. Methods The bone marrow slides of 55 patients diagnosed with AML were enrolled in this study. The PCR, DNA sequencing and molecular cloning were used to detect and analyse the FLT3-ITD, NPM1 and c-kit gene mutations. Patients' remission, progression and survival time were also recorded. Results The DNA was successfully extracted from the bone marrow slides with -20 ℃ frozen storage without Wright stained, chemically fixed, and room temperature storage Wright stained discoloured by phenol ∶ chloroform ∶ isoamyl alcohol method, which can be used in PCR, direct sequencing and molecular cloning sequencing analysis. 10 of the 55 cases (18.2 %) were FLT3-ITD positive, including 9 cases with heterozygous mutations and 1 case with homozygous mutation. FLT3-ITD positive group had lower complete remission (CR) rate, shorter event-free survival (EFS) time and overall survival (OS) time than the negative group (P< 0.05). 9 of the 55 cases (16.4 %) had NPM1 heterozygous gene mutations, all belonging to type A. The EFS rate of the patients with NPM1 mutation was higher in 10 months and the OS rate was higher in 19 months (P< 0.05). 3 of 9 NPM1 mutations patients were FLT3-ITD positive. The CR rates of the four groups after initial remission induction therapy in order were NPM1+FLT3-ITD-, NPM1-FLT3-ITD-, NPM1-FLT3-ITD+, NPM1+FLT3-ITD+(P<0.05). Besides, NPM1-FLT3-ITD+was a risk factor affecting the OS (RR=1.250, P=0.005). 2 of the 55 cases (3.6 %) had c-kit gene mutations, namely mutant D816H and mutant D816V. The c-kit gene mutations were not found in patients with FLT3-ITD and NPM1 mutations. Conclusions The FLT3-ITD mutation is a poor prognosis molecular marker in AML, and NPM1 mutation is a good factor for the prognosis. NPM1-FLT3-ITD+is a risk factor affecting OS. The rate of c-kit gene mutation is low in AML, without the overlap of FLT3 and NPM1 mutations.

Clinical significance of carbon nanoparticles in breast cancer lymphadenectomy / 中国基层医药

Objective To evaluate the clinical application value of active carbon nanoparticles to guide breast cancer tiny lymphadenectomy.Methods 50 patients with breast cancer were enrolled in the study and were divided into two groups by random number table.Active carbon particle was injected locally to guide the regional lymph nodes dissection in 25 cases as study group,and the traditional method was performed in 25 cases as observation group.Numbers of dissected lymph nodes were compared between two groups.Results The average number of eliminated small lymph nodes in the study group was dramatically more than that in the observation group[(23.60 ±4.61)vs. (14.60 ±5.16),t =3.47,P <0.05].There was significant difference between the study group and the observation group in the small ambulant lymph nodes[(5.80 ±1.49)vs.(2.89 ±1.66),t =2.91,P <0.05)].Conclusion Active carbon injected locally can eliminate not only more small lymph nodes,but also more small ambulant lymph nodes.

The role of Notch signaling pathway in ovarian physiology and pathology / 基础医学与临床

Notch signaling pathway is involved in oogenesis and the secretion of ovarian hormones .It controls prolifera-tion and differentiation of ovarian stem cells .In addition, the Notch pathway is also involved in ovarian carcinogenesis .

Establishment and evaluation of clinical nursing pathway after glossectomy and forearm flap reconstruction in patients undertaking tongue cancer surgery / 中国实用护理杂志

Objective To research the significance of application of clinical nursing pathway in patients undertaking glossectomy and forearm flap reconstruction.Methods Sixty patients with tongue cancer who undertook glossectomy and forearm flap reconstruction were enrolled.The patients were randomly divided into the experimental group and the control group (30 cases in each group).The patients of the experimental group received nursing following clinical nursing pathway,and the patients in the control group received routine nursing service.The patients and doctors satisfaction evaluation were compared between the two groups with a self-designed nursing quality evaluation form.The qualities of care achieved in 2 groups were compared.Results It took less in-ward time and expenditure in the experimental group compared with the control group.The quality of care,the satisfactory degree of patients and doctors in the exipermental group were significantly higher than those of the control group.Conclusions The establishment and application of the clinical nursing pathway in patients undertaking glossectomy and forearm flap reconstrucition contributes to improve the satisfaction of patients and doctors and the quality of nursing service.

Nuclear factor-kappa B in epithelial-mesenchymal transition of cancer / 国际肿瘤学杂志

Nuclear factor-kappa B (NF-κB) is a key regulator in epithelial-mesenchymal transition (EMT) of cancer cells.EMT of cancer,one of the reasons of drug resistance,enhances the infiltration and distant metastases ability of cancer cells.Recent researches show that Snail,Slug,Twist and Zeb play important roles in regulating EMT of cancer cells.Drugs and targeted therapies that inhibit NF-κB activities can reverse the EMT of cancer cells.NF-κB may become an effective therapeutic target in cancers in the future.

Effect of hepatitis C virus core gene transfection on NFAT1 expression in human intrahepatic cholangiocarcinoma cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore whether hepatitis C virus core protein (HCV C) regulates the expression of NFAT1 to participate in the progression and malignant biological behavior of intrahepatic cholangiocarcinoma cells.</p><p><b>METHODS</b>The recombinant plasmid pEGFP-N(3)-HCV C and the empty vector pEGFP-N(3) were cotransfected with enhanced green fluorescent protein (EGFP) into RBE cells using liposome. Real-time PCR and Western blotting were used to examine the expression of NFAT1 mRNA and protein in the transfected RBE cells. MTT assay was used to evaluate the changes in the cell proliferation, and the cell cycle changes were analyzed by flow cytometry.</p><p><b>RESULTS</b>HCV C transfection significantly enhanced the expressions of NFAT1 mRNA and protein in RBE cells (P<0.05) and promoted the progression of cell cycle into G(2)/M phase to accelerate the cell proliferation.</p><p><b>CONCLUSION</b>Transfection with HCV C gene up-regulates NFAT1 expression and promotes the cell cycle progression and proliferation of intrahepatic cholangiocarcinoma cells, suggesting the involvement of HCV C in the progression of intrahepatic cholangiocarcinoma.</p>