Analysis of HKαα Genotype and Hematological Characteristics in South Guangxi / 中国实验血液学杂志

OBJECTIVE@#To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.@*METHODS@#Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.@*RESULTS@#A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, βN/ βN, HKαα/αα, β-28/ βN, HKαα/αα, β-50/ βN, HKαα/αα, βCD17/ βN, HKαα/αα, βCD27/28/β N, HKαα/αα, βCD41-42/ βN, HKαα/αα, βCD71-72/ βN, and HKαα/αα, βN/ βN). Except for most cases with HKαα/αα, βN/ βN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia.@*CONCLUSION@#HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.

Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi.@*METHODS@#Six α-thalassemia and 17 β-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia.@*RESULTS@#A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for --SEA, followed by 5.70% for -α3.7, and 0.24% for --Thai. Among 32 α-thalassemia genotypes, the most common five were --SEA/αα, -α3.7/αα, αCSα/αα, -α4.2/αα and αWSα/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for --Thai/αα. A total carrying rate of 13 kinds of β-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42, followed by 2.55% for CD17, and 0.003% for -50 (G>A). Among 17 β-thalassemia genotypes, the most common six were CD41-42/N, CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N, accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42/CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were --SEA/αα, -α3.7/αα combining CD41-42/N and --SEA/αα combining CD17/N, accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of --SEA/-α3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α3.7/αα combining CD41-42/ CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of αWSα/αα combining CD41-42/CD17 (Hb: 79 g/L) and 1 case of --SEA/αα combining CD17/-28 (Hb: 46 g/L) were detected with history.@*CONCLUSIONS@#The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is --SEA/αα in α-thalassemia and CD41-42/N in β-thalassemia, and deletion genotype --Thai is not rare. There is a certain incidence of intermediate and severe β-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.

Progress in research of strategies of expanding HIV testing in men who have sex with men / 中华流行病学杂志

In recent years, HIV infection prevalence in MSM has been in increase in China. HIV testing is the only way to identify HIV-infection, effectively curb the spread of HIV and reduce AIDS-related death risks. At present, the situation of HIV testing in MSM is not satisfactory, and expanding HIV testing is the one of the key measures for AIDS prevention and control in this population. This paper summarizes the role and strategies of expanding HIV testing in MSM in order to provide a reference for the improvement of HIV testing in this population.

Genotypes of thalassemia in children: an analysis of 30 417 cases / 中国当代儿科杂志

OBJECTIVES@#To investigate the distribution of genotypes of thalassemia in children in Guangxi, China.@*METHODS@#A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.@*RESULTS@#Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --@*CONCLUSIONS@#There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --

Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China / 中国实验血液学杂志

OBJECTIVE@#To investigate the genotype distribution of thalassemia in the population of childbearing age in Yulin area.@*METHODS@#The polymerase reaction (PCR) combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detected the α- and β-thalassemia gene in 31 769 cases of suspected thalassemia population at childbearing-age.@*RESULTS@#A total of 22 254 cases were identified as thalassemia gene detetion or mutation in 31 769 cases with a detecting rate of 70.05%, and the detecting rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia were 45.86% (14 569/31 769), 19.45% (6 178/31 769) and 4.74% (1 507/31 769) respectively. 28 kinds of α-thalassemia gene mutations were detected, the common mutations were as follows: --@*CONCLUSION@#The detection rate of thalassemia gene is high in Yulin caildbearing-age population, and there is diversity in mutation spectrums of thalassemia. The most common genotypes are --

Efficacy of postoperative chemotherapy combined with immunotherapy for hepatocellular carcinoma with major portal vein tumor thrombus / 中华外科杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy of surgical treatment combined with immunochemotherapy via portal vein for hepatocellular carcinoma (HCC) with major portal vein tumor thrombus (PVTT).</p><p><b>METHODS</b>Between January 2001 and December 2005 76 HCC patients with tumor thrombus in portal trunk and (or) the first-order branch were recruited into the study. Patients were divided into group A (n = 29) and B (n = 47). Patients in group A were treated with hepatectomy plus portal thrombectomy in combination with postoperative adjuvant immunochemotherapy administered via portal vein. The immunochemotherapy regimen consisted of 5-Fluorouracil, Adriamycin, platinol and alpha-Interferon (PIAF). Patients in group B were subjected to hepatectomy plus thrombectomy alone. Survival rates were compared between two groups, and prognostic factors were identified.</p><p><b>RESULTS</b>Half-, One-, two- and three-year cumulative survival rates were markedly greater in group A than group B, being 82.3% vs 52.7%, 46.5% vs 20.2%, 14.3% vs 5.8%, 14.3% vs 5.8%, respectively. Group A had a significantly longer median survival time and median tumor-free survival time as compared with group B, being 11.5 months vs 6.0 months (P = 0.010), 4.5 months vs 2.4 months (P = 0.032), respectively. Multivariate analysis revealed that immunochemotherapy, pathological grading and tumor size were independent factors for survival times. And immunochemotherapy and pathological grading were independent factors for tumor-free survival time.</p><p><b>CONCLUSIONS</b>Surgical resection combined with adjuvant immunochemotherapy via portal vein represents as an effective modality for HCC with PVTT.</p>

The timing of hepatectomy for hepatolithiasis complicated with acute cholangitis / 中华外科杂志

<p><b>OBJECTIVE</b>To evaluate the optimal timing of hepatectomy for intrahepatic lithiasis complicated with acute cholangitis.</p><p><b>METHODS</b>One hundred and twenty-six patients with hepatolithiasis who had a history of acute cholangitis and underwent hepatectomy were reviewed retrospectively. According to the period between the surgery and last attack of acute cholangitis, 126 patients were divided into 3 groups: > 3 months (group A, n = 73), 1 approximately 3 months (group B, n = 28), < 1 month (group C, n = 25). The operation time, blood loss, hospital stay, postoperative complications and stone residual rate were compared among the groups.</p><p><b>RESULTS</b>The intraoperative blood loss of C group was (644.0 +/- 625.7) ml, which was significantly higher than those of A and B group [(409.2 +/- 250.7) ml and (423.2 +/- 237.1) ml, respectively]. The numbers of patients who needed transfusion and the amount of blood transfusion in group C were also higher than those of group A and B. The incidence rate of complications, residual stone in group C were all markedly higher than those of group A and B. The period of hospital stay in group C was much longer than that in group A and B.</p><p><b>CONCLUSIONS</b>The optimal timing of hepatectomy for hepatolithiasis complicated with acute cholangitis is at least one month after subsidence of cholangitis.</p>

Effect of hypoxic radiosensitizer sodium glycididazole on long-term result of radiotherapy for nasopharyngeal carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To evaluate the long-term effect of sodium glycididazole (CMNa) as a hypoxic radiosensitizer on the radiotherapy for nasopharyngeal carcinoma.</p><p><b>METHODS</b>Between May 1999 and May 2002, 211 patients with pathologically confirmed nasopharyngeal carcinoma were randomized into group-A treated by radiotherapy plus CMNa or group-B by radiotherapy alone. The staging was determined according to 92' Fuzhou staging systerm. The type, procession and dosage of radiotherapy were identical in both groups. The early adverse effect grade was assessed based on the CTC2.0 criteria and the late adverse effects were evaluated according to the RTOG/EORTC criteria. The median follow-up time was 52 months. All the data was analyzed by the SPSS 13.0 software. Characteristics and adverse events of these patients were compared between the two groups using t-test and the Wilcoxin rank sum test. Time-to-event curves were estimated using the Kaplan-Meier method. The prognostic parameters were analyzed using univariate analysis and the Cox multivariate regression analysis.</p><p><b>RESULTS</b>The clinical data of the two groups were comparable. The 3-year survival was 88.4% in group-A, while 75.2% in group-B, with a statistically significant difference between two groups (P = 0.010). Univariate analysis showed that the 3-year survival was statistically correlated with N-staging ((N0-1, 86.9%, N2-3 73.8%, P < 0.001), T-staging (T1-2 85.6%, T3-4 79.3%, P = 0.014), TNM staging (P = 0.039), and whether using CMNa or not during rediotherapy (Group-A 88.4%, Group-B 75.2%, P = 0.010). The 5-year recurrence-free survival, 5-year metastasis-free survival and 5-year overall survival were 75.8%, 74.9% and 77.7% in Group-A, while 63.0%, 63.0% and 62.4% in Group-B with a statistically significant difference between two groups (0.013, 0.022 and 0.010, respectively). If stratified in the subgroups, the overall survival of stage III - IV patients was statistically different between group A and B (P = 0.009), however, not of stage I - II patients (P = 0.502). Cox multivariate regression analysis showed that the independent prognostic parameters for survival were N-stage (RR = 3.288) , T-stage (RR = 2.147) and use of CMNa during rediotherapy (RR = 0.407). However, there was no statistically significant difference between two groups in acute or late adverse effects on nervous system or heart, which suggested that use of CMNa during radiotherapy would not aggravate the toxicity caused by radiotherapy.</p><p><b>CONCLUSION</b>Sodium glycididazole is well tolerable effective as a hypoxic radiosensitizer, which can improve the efficacy of radiotherapy and the long-term result of nasopharyngeal carcinom a patients, especially for the stage III - IV patients.</p>

Recombinant adenovirus-p53 gene therapy combined with radiotherapy for head and neck squamous-cell carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of recombinant adenovirus-p53 gene (Gendicine) therapy combined with radiotherapy for head and neck squamous-cell carcinoma (HNSCC).</p><p><b>METHODS</b>From Oct. 2001 to May 2003, a randomized controlled clinical trial on Gendicine combined with radiation in 36 patients (gene therapy + radiotherapy, GTRT) vs. radiotherapy alone in 33 patients (RT) with HNSCC was completed. In the GTRT group, Gendicine 1 x 10(12) VP (virus particle) was injected intratumorally once a week for eight weeks, and concurrently followed by irradiation. For both groups, the conventional fractionation 2 Gy/f, five fractions a week to a total dose of 70 Gy, was given to either primary tumor or neck lymph nodes. Tumor response was assessed by CT image at 40 Gy, 70 Gy, 2 months after treatment to evaluate the response rate of CR, PR, SD and PD.</p><p><b>RESULTS</b>Wild-type p53 gene significantly enhanced radiotherapeutic effectiveness in patients with HNSCC (P < 0.05). The CR rate of tumors treated by GTRT was increased by nearly 2.31 times more than that of tumors treated by RT alone. No dose-limiting toxicity and adverse events were noted, except transient fever after Gendicine administration.</p><p><b>CONCLUSION</b>Intratumoral injection of Gendicine to HNSCC patients is safe and effective. The apparent improved results of combined therapy with Gendicine and radiation suggest that p53 gene therapy has promising therapeutic potential in cancer treatment.</p>

Role of arsenolite on 8-isoprostane of asthmatic mice plasm / 中国中药杂志

<p><b>OBJECTIVE</b>Through the establishment of mouse' ovalbumin- sensitized asthmatic model and the observation of the 8-Isoprostane of plasm, to evaluate the therapeutic effects of arsenolite on asthmatic mice.</p><p><b>METHOD</b>Forty-two healthy Kunming male mice were randomly divided into control group and experience groups, the latter were treated with dexamethasone, arsenolite. Lung function were tested, 8-isoprostane of plasm and WBC of BALF were measured.</p><p><b>RESULT</b>Lung function improved after treating with dexamethasone or arsenolite. The WBC of asthmatic mice were significantly higher than those in control group, and decreased after treating with dexamethasone or arsenolite; 8-Isoprostane of plasm in asthmatic mice was higher than that of control group, and decreased after treating with dexamethasone or arsenolite.</p><p><b>CONCLUSION</b>There is oxidant stress status in asthmatic mice. Arsenolite could lighten airway obstruction, reduce airway high response and redress oxidant stress status in asthmatic mice.</p>