1.Analysis of ABO allelic enhancement phenomenon in 20 cases with ABO*AW.37 allele
Xian HUANG ; Shuangyu LI ; Tongtong LI ; Lina WU ; Jinhui XIE ; Lei MA ; Jinghui CHONG ; Shiping AN
Chinese Journal of Blood Transfusion 2024;37(8):886-889
Objective To investigate the serological and molecular characteristics of twenty blood samples carrying ABO?AW.37 allele and to analyze ABO allelic enhancement.Methods The ABO phenotype of the twenty samples was de-termined by serological methods and the genotype of 1-7 ABO exons was analyzed by Sanger sequencing.Results Sequen-cing analysis showed that all twenty samples contained a c.940A>G(p.Lys314Glu)mutation of A allele,which was defined as ABO?AW.37.When ABO?AW.37 and B alleles were inherited simultaneously in 9 cases,in forward typing anti-A anti-bodies all agglutinated and the serological phenotype was Aw B.Among the 11 cases with ABO?AW.37 and O alleles inherited simultaneously,there was no agglutination of anti-A in forward typing.For absorption and elution tests,5 cases were weakly positive and the serological phenotype was Ael,while 6 cases were negative for absorption and elution tests and the serologi-cal phenotype was O type.Conclusion Allelic enhancement occured when both ABO?AW.37 allele and B allele were in-herited simultaneously.When ABO? AW.37 was inherited simultaneously with O allele,the serological phenotype was Aelor O type and attention should be paid to blood type identification.
2.Genotypic characteristics of thalassemia and evaluation of the effectiveness of blood routine screening in Sanya City
Xiujuan TIAN ; Meihua TAN ; Ting SUN ; Shiping CHEN ; Bo JIAO ; Chunrong HUANG ; Liting CHEN ; Dan XIE ; Ying YU
Chinese Journal of Endemiology 2023;42(9):710-715
Objective:To analyze the mutation types and distribution characteristics of thalassemia gene among high-risk populations in Sanya City, and to evaluate the effectiveness of blood routine screening, in order to provide scientific basis for formulating measures for prevention and control of thalassemia in Sanya City.Methods:Retrospective analysis was used to collect detection results and clinical data from high-risk individuals who completed genetic screening for thalassemia at Sanya Materal and Child Health Hospital from January 2019 to August 2021. Mutation types and distribution characteristics of thalassemia gene were analyzed, and the missed detection rate and sensitivity of blood routine indicators [mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH)] were evaluated based on the results of genetic screening for thalassemia.Results:A total of 5 760 high-risk individuals were included in the screening results of thalassemia genes, and 3 868 samples of thalassemia gene mutations were detected, with a detection rate of 67.15%. Among them, there were 2 979 samples with α-thalassemia genetic mutations, with a detection rate of 51.72%; including 2 966 common genotype samples (99.56%), the main genotype was αα/-α 3.7 (20.14%, 600/2 979); 13 rare genotype samples (0.44%), 4 cases of αα/-- THAI, 3 cases of α CD40(AAG>AA-)α/αα, 2 cases of α PPα/αα, and 1 case of Fusion gene/αα, Fusion gene/α WSα, α WSα/α PPα, and α CD40(AAG>AA-)α/α WSα each. There were 340 samples with β-thalassemia gene mutations, with a detection rate of 5.90%; including 336 common genotype samples (98.82%). The β CD41/42/β N genotype was dominant (57.65%, 196/340); 4 rare genotype samples (1.18%), β CD5(-CT)/β N, β IVS-Ⅱ-2(-T)/β N, β IVS-Ⅱ-761(-T)/β N and β Initiation(ATG>AGG)/β N 1 case each. There were 549 samples of αβ-compound type thalassemia, with a detection rate of 9.53%. The α missing recombination β CD41/42 genotype was dominant (61.02%, 335/549). There were a total of 4 226 samples that could be traced back to MCV and MCH. Among them, 3 007 samples were found to have mutations in thalassemia genes through screening, 2 584 cases were found to have abnormalities in the combination of MCV and MCH indicators, and 423 samples were missed in blood routine screening, with a missed detection rate of 14.07% (423/3 007). The missed samples were mainly α static type, accounting for 89.13% (377/423) of the total missed samples. The screening sensitivity of MCV combined with MCH for α-, β- and αβ-compound type thalassemia was 82.65%, 98.07% and 98.15%, respectively. Conclusion:The types of genetic mutations in thalassemia in Sanya City are complex and diverse, and there are certain omissions in the blood routine screening of MCV combined with MCH.
3.Molecular analysis of 23 cases of B subgroup.
Jinhui XIE ; Shuangyu LI ; Mengli XUE ; Lina WU ; Ying ZHAO ; Xian HUANG ; Jinghui CHONG ; Wei WANG ; Zheng DONG ; Bo SUN ; Tongtong LI ; Shiping AN ; Lixin LI
Chinese Journal of Medical Genetics 2022;39(5):546-547
OBJECTIVE:
To explore the molecular reasons of weak expression of B antigen on the red cell.
METHODS:
Serological test for blood group was carried out, including red cell and plasma grouping, and anti-A1 and anti-H testing, and confirming weak A or B antigens by adsorption and elution. Exons 1-7 were sequenced directly, and one of them was cloned and sequenced.
RESULTS:
All of the 23 samples showed the weak B antigen by serological method. The alleles of the subgroups were identified by DNA sequencing, including 2 Bel subgroup, 4 B3 subgroup, 14 Bw subgroup, 2 CisAB subgroup and a novel allele. The novel allele showed a nucleotide substitution 662G>A in the exon 7, and the sequence was submitted to Blood Group Antigen Gene Mutation Database, and the novel allele was named Bel10.
CONCLUSION
Nucleotide substitution in exon results in blood subgroup, which showed that the antigens were weakened, and Bw phenotype was the most frequently subgroup.
ABO Blood-Group System/genetics*
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Alleles
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Exons
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Genotype
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Humans
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Nucleotides
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Phenotype
4.Evaluation of the correlation between the fractional amplitude of low frequency fluctuation and sleep belief in adolescents with drug naive first episode insomnia disorder
HUANG Yiyang, LYU Chuang, LYU Lanlan, ZHOU Yang, XIE Shiping
Chinese Journal of School Health 2022;43(3):395-398
Objective:
To investigate the brain function and their correlation with sleep beliefs and attitudes in adolescents with drug naive insomnia by using fractional amplitude of low frequency fluctuation, so as to provide a reference for the mechanism and treatment of insomnia.
Methods:
An insomnia group ( n =21) recruited first episode, drug naive, adolescents with insomnia who met the diagnostic criteria of the American Diagnostic and Statistical Manual of Mental Disorders(DSM-V). Healthy subjects matched with age, gender, and educational background were selected as the control group ( n =20). Pittsburgh Sleep Quality Index Scale (PSQI), Brief Version of Dysfunctional Beliefs and Attitudes about Sleep (DBAS-16), 24 Items Hamilton Depression Scale (HAMD-24), 14 Items Hamilton Anxiety Scale (HAMA-14) were evaluated. Fractional amplitude of low frequency fluctuation was used for analysis, and Pearson correlation analysis was employed to quantify the correlation between peak values of brain regions with significant differences and the clinical scale scores of the two groups.
Results:
Compared with the control group, ractional amplitude of low frequency fluctuation(fALFF) values in the insomnia group were significantly decreased ( P <0.01, Alphaism corrected) in the left dorsolateral prefrontal lobe (L-DLPFC, MNI coordinates: -12, 60, 21, t =-3.85, K =495) and the left precuneus (MNI coordinates: -3, -54, 51, t =-4.29, K =417). The fALFF value of L-DLPFC in the insomnia group was positively correlated with DBAS-16 score ( r= 0.47 , P = 0.04 ).
Conclusion
Abnormalities in the L-DLPFC region suggest that adolescents with insomnia may suffer from impaired regulation of emotional and cognitive activities related to sleep.
5.Clinical Efficacy of Dapagliflozin Combined with Shexiang Baoxinwan in Treatment of Acute Heart Failure with Reduced Ejection Fraction
Hu ZHANG ; Wei TAN ; Pei RUAN ; Chunxiang LI ; Jing ZHANG ; Shiping HUANG ; Qiongzhen JIA ; Quan ZHANG ; Lifang WANG
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(17):98-105
ObjectiveTo study the clinical efficacy of dapagliflozin combined with Shexiang Baoxinwan (SXBXW) in the treatment of acute heart failure with reduced ejection fraction (HFrEF) and syndrome of Qi deficiency and blood stasis. MethodA total of 176 patients hospitalized due to acute HFrEF (syndrome of Qi deficiency and blood stasis) were selected and randomized into control group, SXBXW group, dapagliflozin group, and SXBXW + dapagliflozin group (the latter three groups were called the intervention groups). The New York Heart Association (NYHA) class, 6-minute walk test (6MWT) score, Kansas City Cardiomyopathy Questionnaire (KCCQ) score, traditional Chinese medicine (TCM) syndrome score, N-terminal pro-brain natriuretic peptide (NT-proBNP), soluble suppression of tumorigenicity 2 (sST2), interleukin-6 (IL-6), and hypersensitive C-reactive protein (hs-CRP) of the patients were evaluated and measured at the time of admission, 1 week after treatment, and 2 weeks of treatment. Furthermore, the hospital stay, in-hospital mortality, and 30-day re-admission rate were recorded. Statistical analysis was performed to evaluate the efficacy of each group. ResultAfter 1 week of treatment, the SXBXW group exhibited superior NYHA class, KCCQ score, TCM syndrome score and curative effect, IL-6, and hs-CRP to the control group (P<0.05, P<0.01). After 2 weeks of treatment, the SXBXW group showed superior TCM syndrome score, TCM curative effect, and hs-CRP (P<0.05, P<0.01) to the control group. The dapagliflozin group was superior to the control group in terms of TCM syndrome score, NT-proBNP, and sST2 (P<0.05, P<0.01) after 1 week of treatment and in terms of NYHA class, KCCQ score, NT-proBNP, sST2, and hospital stay (P<0.05, P<0.01) after 2 weeks of treatment. The SXBXW + dapagliflozin group exhibited better efficacy than the control group in terms of NYHA class, 6MWT score, KCCQ score, TCM syndrome score and curative effect, NT-proBNP, sST2, IL-6, and hs-CRP (P=0.014) after 1 week of treatment and in terms of NYHA class, KCCQ score, TCM syndrome score and curative effect, NT-proBNP, sST2, IL-6, hs-CRP, and hospital stay (P<0.01) after 2 weeks of treatment. ConclusionSXBXW and dapagliflozin have good therapeutic effect on acute HFrEF and syndrome of Qi deficiency and blood stasis, and their combination demonstrated better therapeutic effect, with good safety and tolerability.
6.Prevalence of anxiety and depression among inpatients with AIDS
Dingling HE ; Shiping FENG ; Xia ZHAO ; Lihua GUO ; Chunrong LÜ ; Hongxia LI ; Hui GUO ; Lei HUANG
Journal of Preventive Medicine 2022;34(2):166-170
Objective:
To investigate the prevalence of anxiety and depression among inpatients with AIDS and its influencing factors, so as to provide the evidence for improving the psychological health among inpatients with AIDS.
Methods:
The inpatients with AIDS that were hospitalized in an infectious disease hospital in Chengdu City were recruited using the convenient sampling method. The demographic features, depression and anxiety were collected using a self-designed questionnaire, Self-rating Anxiety Scale (SAS) and Self-rating Depression Scale ( SDS ), respectively, and factors affecting the development of depression and anxiety were identified using a multivariable linear regression model among inpatients with AIDS.
Results:
The 228 AIDS inpatients included 186 men (81.58%) and 42 women ( 18.42% ), and had a mean age of ( 48.04±16.03 ) years. There were 113 inpatients ( 49.56% ) with a CD4+T cell count of ≤200 cells/μL, and the mean SAS and SDS standardized scores were 35.87±8.01 and 42.07±11.08 among AIDS inpatients, which were both significantly greater than in normal populations ( P<0.05 ). The prevalence rates of anxiety, depression, and comorbid anxiety and depression were 5.26%, 16.23% and 4.82% among the participants, respectively. Multivariable linear regression analysis identified unemployment as a risk factor of anxiety ( β'=0.168, P<0.05 ), and CD4+T cell count as a risk factor of anxiety ( β'=-0.151, P<0.05 ) and depression ( β'=-0.238, P<0.05 ) among inpatients with AIDS.
Conclusions
Anxiety and depression are prevalent among inpatients with AIDS. Unemployment and a low CD4+T cell count may cause a rise in the risk of developing anxiety and depression among inpatients with AIDS.
7.Analysis of psychological distress in elderly patients with head and neck cancer receiving radiotherapy
Ruizhi BAO ; Junlin YI ; Qingfeng LIU ; Xuesong CHEN ; Runye WU ; Xiaodong HUANG ; Kai WANG ; Yuan QU ; Shiping ZHANG ; Jingwei LUO ; Jianping XIAO ; Ye ZHANG
Chinese Journal of Radiation Oncology 2021;30(2):109-113
Objective:To evaluate the psychological pain of patients with head and neck cancer aged ≥60 years old before and after intensity-modulated radiotherapy (IMRT).Methods:Distress Thermometer (DT)(Chinese version) was used to investigate the degree and problems of psychological pain before and after IMRT for 85 elderly patients with head and neck cancer. The results before and after IMRT were compared by paired t-test. Relevant factors were identified by Logistic regression analysis. Results:The median age in the cohort was 66 years old (60-85 years old). The incidence rates of psychological pain were 73% and 87% before and after IMRT ( P<0.001). The corresponding incidence rates of severe distress were 6% and 34%( P<0.001). The main distress problems before IMRT were memory loss/attention deficit, worry, oral pain, economic problems, stress, sleep problems, and dry nose. The significantly-increased distress problems after IMRT were oral pain, constipation, eating, nausea, and dry nose. Logistic regression analysis showed gender ( OR=5.520, 95% CI 1.437-21.212, P=0.013), pre-treatment PG-SGA score ( OR=1.220, 95% CI 1.048-1.421, P=0.010) and medical insurance ( OR=0.230, 95% CI 0.053-0.995, P=0.049) were the relevant factors of the severe psychological distress before IMRT. Occupation ( OR=2.286, 95% CI 1.291-4.050, P=0.005) and medical insurance ( OR=0.089, 95% CI 0.029-0.276, P<0.001) were the relevant factors of severe psychological distress after IMRT. Conclusion:The incidence rate of distress is high in elderly patients with head and neck cancer before IMRT, which can be aggravated after IMRT, primarily the treatment-related physical pain problems.
8.Analysis of the factors influencing the efficacy of concurrent chemoradiotherapy for locally advanced head and neck squamous cell carcinoma: based on a phase Ⅲ clinical randomized controlled study
Kai WANG ; Yuan QU ; Junlin YI ; Xuesong CHEN ; Xiaolei WANG ; Shaoyan LIU ; Zhengang XU ; Shiping ZHANG ; Runye WU ; Ye ZHANG ; Suyan LI ; Jingwei LUO ; Jianping XIAO ; Li GAO ; Guozhen XU ; Yexiong LI ; Xiaodong HUANG
Chinese Journal of Radiation Oncology 2021;30(3):230-234
Objective:To identify the population who can obtain clinical benefit from concurrent chemoradiotherapy through the survival analysis during concurrent chemoradiotherapy in different subgroups.Methods:All data from a phase Ⅲ randomized controlled clinical trial were collected to compare the efficacy between preoperative concurrent chemoradiotherapy and preoperative radiotherapy from 2002 to 2012 in Cancer Hospital of the Chinese Academy of Medical Sciences. A total of 222 patients received radiation therapy with a median dose of 69.96 Gy (27.56-76.00 Gy). The cisplatin chemotherapy regimen was adopted and the median dose was 250 mg (100-570 mg). In total, 98 patients received intensity-modulated radiotherapy (IMRT). The survival analysis was conducted with Kaplan- Meier method and univariate analysis was performed with log-rank test. The multivariate prognostic analysis was conducted with Cox’s regression model. Results:The median follow-up time was 59 months (7-139 months). Among them, 104 patients were assigned in the chemoradiotherapy group and 118 patients in the radiotherapy alone group. The local and regional recurrence rates did not significantly differ between two groups (both P>0.05), while chemoradiotherapy tended to decrease the distant metastasis rate compared with the radiotherapy alone (14.4% vs. 24.6, P=0.058). Univariate analysis showed that concurrent chemoradiotherapy significantly increased the local recurrence-free survival in the early N stage subgroup ( P=0.009), and there was an increasing trend in patients aged≤55 years and female patients ( P=0.052, 0.066). The distant metastasis-free survival was significantly improved in T 4( P=0.048), N 3( P=0.005), non-IMRT treatment ( P=0.001) and hypopharyngeal carcinoma ( P=0.004) subgroups, there was an increasing trend in male ( P=0.064), high-and moderate-grade squamous cell carcinoma ( P=0.076) and non-surgical treatment subgroups ( P=0.063). Multivariate analyses showed that concurrent chemoradiotherapy significantly prolonged the progression-free survival and overall survival in patients aged≤55 years ( P=0.017 and 0.039), women ( P=0.041 and 0.039), high-and moderate-grade squamous cell carcinoma ( P=0.006 and 0.022), N 3 stage ( P=0.001 and 0.017), non-surgical treatment ( P=0.007 and 0.033) and non-IMRT treatment subgroups ( P=0.030 and 0.024), and it significantly increased the progression-free survival in patients with hypopharyngeal carcinoma ( P=0.022). Conclusion:Concurrent chemoradiotherapy can be actively delivered for young age, female, high-and moderate-grade squamous cell carcinoma, N 3 stage, non-surgical treatment and non-IMRT treatment patients.
9.Effects of different combinations of comprehensive treatment on survival of patients with locally advanced head and neck squamous cell carcinoma: post-hoc analysis of a phase Ⅲ randomized controlled clinical trial
Kai WANG ; Yuan QU ; Junlin YI ; Xuesong CHEN ; Xiaolei WANG ; Shaoyan LIU ; Zhengang XU ; Shiping ZHANG ; Runye WU ; Ye ZHANG ; Suyan LI ; Jingwei LUO ; Jianping XIAO ; Li GAO ; Guozhen XU ; Yexiong LI ; Xiaodong HUANG
Chinese Journal of Radiation Oncology 2020;29(7):502-507
Objective:To compare the effects of comprehensive treatment with different combinations of radiotherapy, chemotherapy and surgery on the survival of patients with locally advanced head and neck squamous cell carcinoma (LA-HNSCC).Methods:From September 2002 to May 2012, 222 patients were enrolled in a randomized controlled clinical trial to compare the clinical efficacy between preoperative radiotherapy and preoperative concurrent chemoradiotherapy. The chemotherapy was performed at the beginning of the radiotherapy, with cisplatin 30 mg/m 2 every week. Conventional radiotherapy or intensity-modulated radiotherapy (IMRT) was adopted. Clinical efficacy was evaluated during radiotherapy to 50 Gy in all patients. Whether surgery or original treatment regime was given was determined according to the clinical efficacy. The survival of different therapeutic methods was analyzed by Kaplan- Meier method. Results:The median follow-up time was 59 months (7-139 months). All patients were divided into four groups: radiotherapy group (R group, n=84), concurrent chemo-radiotherapy group (R+ C group, n=67), preoperative radiotherapy group (R+ S group, n=34) and preoperative concurrent chemoradiotherapy group (R+ C+ S group, n=37). The 5-year overall survival rates were 32%, 44%, 51%, and 52%, respectively (R+ C+ S group vs. R group, P=0.047). The 5-year progression-free survival rates were 34%, 48%, 49%, and 61%, respectively (R+ C Group vs. R group, P=0.081; R+ C+ S group vs. R group, P=0.035). The 5-yeal distant metastasis-free survival rates were 70%, 85%, 65%, and 73%, respectively (R+ C group vs. R+ S group, P=0.064; R+ C group vs. R+ S group, P=0.016). Conclusions:Compared with radiotherapy alone, comprehensive treatment with different combinations can improve the long-term survival of LA-HNSCC patients. Radiotherapy combined with chemotherapy has a tendency to improve the distant metastasis-free survival rate, The optimal comprehensive treatment modality that improves the overall survival of LA-HNSCC patients remains to be explored.
10.High-risk factors of retropharyngeal lymph node metastasis in patients with hypopharyngeal carcinoma based on magnetic resonance imaging
Huili WANG ; Yuan QU ; Kai WANG ; Runye WU ; Qingfeng LIU ; Ye ZHANG ; Shiping ZHANG ; Jianping XIAO ; Junlin YI ; Li GAO ; Guozhen XU ; Jingwei LUO ; Xiaodong HUANG
Chinese Journal of Radiation Oncology 2020;29(8):625-628
Objective:To analyze the incidence and high-risk factors of lymph node metastasis in the retropharyngeal region of hypopharyngeal squamous cell carcinoma based on magnetic resonance imaging (MRI), aiming to guide the delineation of clinical target area.Methods:Clinical data of patients who were pathologically diagnosed with hypopharyngeal carcinoma from January 2012 to September 2018 in our center were retrospectively analyzed. All patients received head and neck MRI before treatment. The diagnosis of lymph node metastasis and the delineation of primary gross target volume (GTV p) and lymph nodes target volume (GTV nd) were determined by all the radiation oncologists in head and neck group through twice weekly general round discussion. The cut-off points of GTV p and GTV nd were defined by establishing the receiver operating characteristic curve. All patients were divided into the high GTV p, low GTV p and high GTV nd and low GTV nd groups. Chi-square test was used for univariate analysis and logistic regression was utilized for multivariate analysis to analyze the high-risk factors of patients with retropharyngeal lymph node metastasis. Results:A total of 326 patients were included in this study, 295 of whom were diagnosed with cervical lymph node metastasis, accounting for 90.5%. The most common involved area was Level Ⅱ a, followed by Level Ⅲ, Level Ⅱ b, Level IV, Level Ⅶ a (retropharyngeal), Level V a, and Level V b. The incidence of retropharyngeal lymph node metastasis was 21.5%, and the incidence was 53.1% in patients with primary tumor located in the posterior pharyngeal wall. Univariate and multivariate analyses showed that patients with tumor originated from the posterior pharyngeal wall ( P=0.002), bilateral cervical lymph node metastasis ( P=0.020), larger GTV p (greater than 47 cm 3, P=0.003), and larger GTV nd (greater than 22 cm 3, P=0.023) were significantly associated with the occurrence of retropharyngeal lymph node metastasis. Conclusions:The incidence of retropharyngeal lymph node metastasis is high in hypopharyngeal carcinoma, especially in patients with primary tumors in the posterior pharyngeal wall, bilateral cervical lymph node metastasis and larger primary burden. Therefore, for patients with these risk factors, it is highly recommended that the clinical target area should be delineated to include the retropharyngeal lymph node drainage area.


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