1.Migraine Susceptibility Genes in Han Chinese of Fujian Province.
Qi Fang LIN ; Zi Chun CHEN ; Xian Guo FU ; Jing YANG ; Luo Yuan CAO ; Long Teng YAO ; Yong Tong XIN ; Gen Bin HUANG
Journal of Clinical Neurology 2017;13(1):71-76
BACKGROUND AND PURPOSE: Five single-nucleotide polymorphisms (SNPs) (rs4379368, rs10504861, rs10915437, rs12134493 and rs13208321) were recently identified in a Western population with migraine. These migraine-associated SNPs have not been evaluated in a Han Chinese population. This study investigated the associations of specific SNPs with migraine in a Han population. METHODS: This was a case-control study of Han Chinese residing in Fujian Province. Polymerase chain reaction—restriction-fragment-length polymorphism analysis and direct sequencing were used to characterize the relationships of SNPs in a control group of 200 subjects and in a migraine group of 201 patients. RESULTS: The frequencies of the five SNPs did not differ between patients with migraine and healthy non migraine controls. However, subgroup analysis indicated certain SNPs were more strongly associated with migraine with aura or migraine without aura than with controls. The CT genotype of rs4379368 was more common in migraine patients with aura (75%) than in migraine patients without aura (47.9%) and controls (48.5%) (p<0.05), and the TT genotype of rs10504861 was more common in migraine patients with aura than in controls (8.3% vs. 0.5%) (p<0.05). Meanwhile, the CC genotype of rs12134493 was less common in migraine patients without aura than in controls (80.6% vs. 88%) (p<0.05). CONCLUSIONS: Our findings suggest that the rs4379368 and rs10504861 SNPs are markers for susceptibility to migraine with aura and that rs12134493 is a marker for the risk of migraine without aura in this Han population. Future studies should further explore if these associations vary by ethnicity.
Asian Continental Ancestry Group*
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Case-Control Studies
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Epilepsy
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Genotype
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Humans
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Migraine Disorders*
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Migraine with Aura
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Migraine without Aura
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Polymorphism, Single Nucleotide
2.Effects of saphenous nerve combined with posterior capsular block of knee joint on stress response,analgesic effect and joint function recovery after total knee arthroplasty
Teng-Chen FENG ; Jia-Yi WANG ; Jie YAO ; Ji-Bo ZHAO ; Xiao-Jia SUN ; Fu-Long LI
Journal of Regional Anatomy and Operative Surgery 2024;33(6):509-513
Objective To investigate the effects of saphenous nerve combined with posterior capsular block of knee joint on stress response,analgesic effect and joint function recovery of patients after total knee arthroplasty.Methods A total of 98 patients who received total knee arthroplasty in our hospital from January 2021 to January 2022 were selected and divided into the observation group(received saphenous nerve combined with posterior capsular block of knee joint)and the control group(received saphenous nerve block)by random number table,with 49 patients in each group.The visual analogue scale(VAS)score of resting and dynamic pain 6 hours,12 hours and 24 hours after surgery of patients in the two groups were compared.The range of knee joint motion before surgery,3 days,5 days and 7 days after surgery of patients in the two groups were compared.The stress indexes[cortisol(Cor),adrenocorticotropic hormone(ACTH)],and pain mediator indexs[calcitonin gene-related peptide(CGRP),beta-endorphins(β-EP),6-keto prostaglandin E1α(6-Keto-pGE1α),substance P(SP)]before surgery,4 hours,12 hours,24 hours,and 48 hours after surgery of patients in the two groups were compared.The occurrence of adverse reactions during treatment of patients in the two groups were recorded.Results There were statistically significant differences in the resting and dynamic VAS scores at different time points of patients in the two groups in terms of time factors,inter-group factors and interaction factors(P<0.05).There were statistically significant differences in the range of knee joint motion at different time points of patients in the two groups in terms of time factors,inter-group factors and interaction factors(P<0.05).There were statistically significant differences in the Cor and ACTH contents at different time points of patients in the two groups in terms of time factors,inter-group factors and interaction factors(P<0.05).There were statistically significant differences in the contents of β-EP,SP,CGRP and 6-keto-PGE1α at different time points of patients in the two groups in terms of time factors,inter-group factors and interaction factors(P<0.05).There was no statistically significant difference in the incidence of adverse reactions between the two groups(P>0.05).Conclusion Saphenous nerve combined with posterior capsular block of knee joint for total knee arthroplasty can reduce patients' stress response,enhance postoperative analgesic effect,and improve the early motor function,with high safety.
4.Differential Diagnosis of Three Commonest Deletion β-Thalassemia in Chinese.
Ji-Cheng WANG ; Cui-Ze YAO ; Yan-Lin HUANG ; Ling LIU ; Teng-Long YUAN ; Dan-Qing QIN
Journal of Experimental Hematology 2021;29(4):1247-1250
OBJECTIVE:
To analyze the hematological characteristics of Chinese
METHODS:
Hemoglobin electrophoresis and blood routine test were used to analyze the hematological indexes of all peripheral blood samples,PCR-Flow fluorescent hybridization and Gap-PCR were used to detect the globin gene mutations and the data were analyzed statistically.
RESULTS:
The 3 types of deletion β- Thalassemia patients were showed as hypochromic small cell anemia. The MCH and MCV values of Taiwan type β-thalassemia patients were the lowest. The results of hemoglobin electrophoresis showed that the increasing of HbF was found in all of the 3 types. Except for the decreasing of Hb A2 in Chinese
CONCLUSION
Through analyze the hematological characteristics, it can be provide that the guidance for the differential diagnosis and genetic consultation of the three commonest deletion β-thalassemia in Chinese.
China
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Diagnosis, Differential
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Fetal Hemoglobin
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Humans
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Mutation
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Thalassemia
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beta-Thalassemia/genetics*
5.Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin.
Ji-Cheng WANG ; Hao GUO ; Hua-Jie HUANG ; Teng-Long YUAN ; Cui-Ze YAO ; Dan-Qing QIN ; Li DU
Journal of Experimental Hematology 2020;28(6):2028-2032
OBJECTIVE:
To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families.
METHODS:
RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.
RESULTS:
Three cases of Hb Broomhill were detected, including 2 cases with common SEA α-thalassemia, which was characterized by hypochromic microcytic mild anemia, the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak; 1 case was diagnosed as Hb Hornchurch combined with β-thalassemia, which also showed mild anemia. Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A
CONCLUSION
The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia, which do not aggravate the hematological symptoms, such as anemia when being combined with thalassemia of the same type.
Anemia, Hypochromic
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Hemoglobins, Abnormal/genetics*
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Heterozygote
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Humans
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alpha-Thalassemia/genetics*
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beta-Thalassemia
6.Application of Targeted Coronary Angiography in the Diagnosis of Sudden Cardiac Death.
Xin ZHAO ; Zhi-Ming CHEN ; Wen-Yun LIU ; Bo WANG ; Hong-Yang LI ; Li-Yao YANG ; Yan TENG ; Li-Jun WANG ; Yan-Bin GAO ; Wei-Long CHEN ; Lei ZHANG
Journal of Forensic Medicine 2023;39(6):542-548
OBJECTIVES:
To diagnose coronary artery stenosis by using the postmortem computed tomography angiography (PMCTA), and to explore the diagnostic value of PMCTA in sudden cardiac death.
METHODS:
Six death cases were selected, and the contrast medium iohexol was injected under high pressure through femoral artery approach with 5F pigtail catheter to obtain coronary image data and then the data was analyzed. The results of targeted coronary imaging and coronary artery calcium score (CaS) were compared with the results of conventional autopsy and histopathological examination.
RESULTS:
The autopsy and histopathological examination of cases with coronary artery stenosis obtained similar results in targeted coronary angiography, with a diagnostic concordance rate of 83.3%. Targeted coronary angiography could effectively show coronary artery diseases, and the CaS was consistent with the results of conventional autopsy and histopathological examination.
CONCLUSIONS
Targeted coronary angiography can be used as an effective auxiliary method for conventional autopsy in cases of sudden cardiac death.
Humans
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Computed Tomography Angiography/methods*
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Coronary Angiography/methods*
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Coronary Artery Disease/diagnostic imaging*
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Coronary Stenosis/diagnostic imaging*
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Death, Sudden, Cardiac/pathology*
7.Genetic Effect Analysis of β-globin Gene 3'UTR+101G>C (HBB:c. *233G>C) Variant.
Li DU ; Cui-Ze YAO ; Xiu-Qin BAO ; Jie LIANG ; Teng-Long YUAN ; Dan-Qing QIN ; Ji-Cheng WANG
Journal of Experimental Hematology 2021;29(4):1271-1274
OBJECTIVE:
To investigate whether β-globin gene 3'UTR+101G>C (HBB:c.*233G>C) variant has genetic effect and provide basis for gene diagnosis and genetic counseling.
METHOD:
Whole blood cell analysis and capillary zone electrophoresis (CZE) were used to analyze the hematological indexes. The most frequent 23 mutations in southern Chinese individuals were routinely measured by PCR-flow fluorenscence immunmicrobeads assay. Sanger sequencing was used to detect the other variants of β-globin gene (HBB).
RESULTS:
In 463 cases, a total of 7 cases with HBB:c.*233G>C variant were detected, among them 4 cases carried other pathogenic variants of HBB gene (2 cases were in trans, 2 cases were in cis), who had typical hematological characteristics of mild β-thalassemia, and 3 cases also carried abnormal hemoglobin variation, but did not have hematological characteristics of β-thalassemia.
CONCLUSION
The study shows that HBB:c.*233G > C variant has no obvious genetic effect and should be a benign polymorphism.
3' Untranslated Regions
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Hemoglobins, Abnormal/genetics*
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Humans
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Mutation
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beta-Globins/genetics*
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beta-Thalassemia/genetics*