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Objective@#To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy.@*Methods@#Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2.@*Results@#The child was found to carry compound heterozygous variations c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c. 2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c. 2266C>T has not been reported previously and was predicted to be harmful.@*Conclusion@#The compound variants of c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.
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OBJECTIVE@#To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2.@*RESULTS@#The child was found to carry compound heterozygous variations c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c.2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c.2266C>T has not been reported previously and was predicted to be harmful.@*CONCLUSION@#The compound variants of c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.
Subject(s)
Child , Humans , Group VI Phospholipases A2 , Genetics , High-Throughput Nucleotide Sequencing , Mutation , Neuroaxonal Dystrophies , GeneticsABSTRACT
Objective@#To explore the relationship between selenium and the risk for oral cancer.@*Methods@#We performed a case-control study in 325 cases of newly diagnosed primary oral cancer from the First Affiliated Hospital of Fujian Medical University and 650 controls from the same hospital and community. Unconditional logistic regression and stratification analyses were used to explore the association between selenium and oral cancer. Adjusted OR and corresponding 95%CI were calculated. The analyses on multiple interactions between selenium and smoking or drinking status, and fruit or fish intake frequencies were conducted.@*Results@#The level of serum selenium was 112.42 (80.98-145.06) μg/L in the case group, which was lower than 164.85 (144.44-188.53) μg/L in control group, the difference was statistical significant (P<0.01). There was a negative correlation between serum selenium level and the risk for oral cancer regardless of smoking and drinking status, and fruits and fish intake frequencies (P<0.05). There were multiple interactions between serum selenium level and smoking or drinking status, and fruit and fish intakes.@*Conclusions@#The high level of serum selenium is a protective factor for the incidence of oral cancer, and serum selenium has multiple interactions with smoking or drinking status, and fruit and fish intakes. Therefore, reducing tobacco use and alcohol consumption and increasing the intakes of fruit and fish can reduce the risk for oral cancer to some extent.
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Objective@#To explore the association of TBX5 polymorphisms and environmental exposure index with susceptibility to oral cancer.@*Methods@#A case-control study was conducted to collect 300 oral cancer patients hospitalized in the Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Fujian Medical University from September 2010 to December 2016. A total of 445 non-tumor patients were selected as the control group. Questionnaires were used to collect the information of all subjects and 5 ml peripheral blood was collected to detect single nucleotide polymorphisms (SNPs) of the rs10492336 locus of TBX5 gene. According to the environmental exposure index score, subjects were divided into two groups, low risk group (0-2.31) and high risk group (2.32-11.76). To analyze the association of TBX5 gene rs10492336 SNPs, environmental exposure index and oral cancer and its interactions.@*Results@#The age of all subjects in the case group and control group were (56.19±13.10) years and (54.56±12.48) years old. Compared with CC genotype, the OR (95%CI) values of the co-dominant genetic model AC genotype and the dominant genetic model AC+AA genotype were 0.69 (0.49-0.98) and 0.70 (0.51-0.97), respectively. Compared with the low risk group, the OR (95%CI) risk of oral cancer in the high risk group was 3.72 (2.55-5.43). The results of gene-environment interaction analysis showed that compared with the group with CC genotype and high risk of environmental exposure index, the OR (95%CI) value of oral cancer in the group with AC+AA genotype and low risk of environmental exposure index was 0.18(0.10-0.31). Furthermore there was a multiplicative interaction between rs10492336 SNPs and environmental exposure index (β=-0.405, P<0.001).@*Conclusion@#This study suggests that the TBX5 gene rs10492336 SNPs and environmental exposure index were associated with oral cancer. And there was a multiplication interaction between rs10492336 SNPs and environmental exposure index.
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Objective@#To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism.@*Methods@#Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2.@*Results@#No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c. 803-3C>G (7/26), c. 1327G>A (p.Val443Ile) (5/26), c. 632C>T (p.Pro211Leu) (4/26), c. 1832T>C (p.Leu611Pro) (3/26), c. 1349C>A (p.Thr450Lys) (2/26), c. 2363C>T (p.Ser788Leu) (2/26), c. 2228C>T (p.Pro743Leu) (1/26), c. 1525A>G(p.Thr509Ala) (1/26), and c. 1349C>T(p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c. 2363C>T (p.Ser788Leu), c. 1832T>C (p.Leu611Pro) and c. 1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function.@*Conclusion@#The main type of ocular albinism is oculocutaneous albinism type Ⅱ in Liuzhou region, where the most common variations of the P gene were c. 803-3C>G and c. 1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.
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OBJECTIVE@#To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism.@*METHODS@#Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2.@*RESULTS@#No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c.803-3C>G (7/26), c.1327G>A (p.Val443Ile) (5/26), c.632C>T (p.Pro211Leu) (4/26), c.1832T>C (p.Leu611Pro) (3/26), c.1349C>A (p.Thr450Lys) (2/26), c.2363C>T (p.Ser788Leu) (2/26), c.2228C>T (p.Pro743Leu) (1/26), c.1525A>G (p.Thr509Ala) (1/26), and c.1349C>T (p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c.2363C>T (p.Ser788Leu), c.1832T>C (p.Leu611Pro) and c.1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function.@*CONCLUSION@#The main type of ocular albinism is oculocutaneous albinism type II in Liuzhou region, where the most common variations of the P gene were c.803-3C>G and c.1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.
Subject(s)
Humans , Albinism, Oculocutaneous , Genetics , China , Heterozygote , Membrane Transport Proteins , Genetics , Mutation , PedigreeABSTRACT
<p><b>OBJECTIVE</b>To explore the effects of the combined therapy of heat sensitive moxibustion and acupoint injection on endometrial receptivity of hypdrosalphinx infertility in the patients after hysteroscopy and laparoscopy on the base of routine post-operative anti-inflammation.</p><p><b>METHODS</b>A total of 210 patients of hypdrosalphinx infertility after hysteroscopy and laparoscopy were divided into a combined therapy group, a heat sensitive moxibustion group and a control group, 70 cases in each one according to the random number table. In the control group, the intravenous drip of cefoxitin sodium was adopted, and the anti-inflammation treatment was given for 1 week after operation. In the heat sensitive moxibustion group, on the basis of the treatment as the control group, the heat sensitive moxibustion was applied after vaginal bleeding stopped. The acupoints were Yaoyangguan (GV 3), Guanyuan (CV 4), Qihai (CV 6), Shenshu (BL 23), Sanyinjiao (SP 6), Yinlingquan (SP 9) and Zigong (EX-CA1). The acupoints were modified according to the different syndromes. In the combined therapy group, on the basis of the regimen as the heat sensitive moxibustion group, after vaginal bleeding stopped, the acupoint injection was given alternatively at bilateral Tiangong (extra, 1.0 cm inferior and bilateral to the cervix) with lidocaine 1 mL, amikacin 2 mL and salvia injection 2 mL. The treatment was given once every day, the treatment for 10 times as one course and a total of 3 courses were required. The endometrial type, thickness, uterine arterial plusatility index (PI) and resistance index (RI) were observed in the patients of each group.</p><p><b>RESULTS</b>After treatment, the numbers of A-type endometrial type in the combined therapy group and the heat sensitive moxibustion group were remarkably higher than those of the control group [57.1% (40/7) vs 31.4% (22/70), 50.0% (35/70) vs 31.4% (22/70), both<0.05]. The endometrial thickness after treatment was all increased as compared with that before treatment in each group (all<0.05). The increasing degree in the combined therapy group was better than either the heat sensitive moxibustion group or the control group (both<0.05). The improvement in the heat sensitive moxibustion group was superior to the control group (<0.05). PI and RI in the combination group and PI in the control group were decreased after treatment (all<0.05). The improvements of PI and RI in the combination group were better than those in the heat moxibustion group (both<0.05), which were superior to those in the control group (all<0.05).</p><p><b>CONCLUSION</b>In the patients of hypdrosalphinx infertility after hysteroscopy and laparoscopy, the combined therapy of heat sensitive moxibustion and acupoint injection increases endometrial thickness, reduces uterine arterial resistance and improves endometrial receptivity.</p>
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Objective To investigate the impact of polyclonal neural cell adhesion molecule antibody (P-NCAM-Ab) on the potency of botulinum toxin A (BTX-A).Methods Ninety male Sprague-Dawley rats were randomly divided into 3 equal groups:a normal control group,a BTX-A group and a P-NCAM-Ab group.The rats in the normal control group were injected with 100 μl of saline solution in their right gastrocnemius,while those in the BTX-A and P-NCAM-Ab groups were injected with 100 μl of BTX-A (0.5 U).In addition,the rats in the P-NCAM-Ab group were also injected with 100 μl of P-NCAM-Ab (the dosage was 20 U) at the same site on the 3rd day after the BTX-A injection.The rats' gastrocnemius muscle strength was evaluated with a self-made system for evaluating neuromuscular function before and after the toxin injection,on the 3rd day,as well as 1,2,4,6,8,10 and 12 weeks after the BTX-A injection.Any wet weight changes in the muscles were observed,and immunochemistry methods were employed to observe any structural changes in the motor endplates and nerve fibers at the different time points.Results After the saline injection,the average gastrocnemius muscle strength of the control group increased with time,while strength in the BTX-A and P-NCAM-Ab groups demonstrated a decrease in strength followed by a gradual increase.The average gastrocnemius muscle strength of the rats in the BTX-A and P-NCAM-Ab groups was significantly lower than that of the control group at all time points.Compared with the BTX-A group,the muscle strength of the P-NCAM-Ab group rats decreased further.Strength recovery in the BTX-A and P-NCAM-Ab groups was significantly slower than in the control group.The wet weight percentage in the BTX-A and P-NCAM-Ab groups at first decreased and then recovered with time.After the BTX-A injection,the average wet weight percentage of the P-NCAM-Ab group rats was significantly lower than that of the BTX-A group after 3 days,and 1,2 and 4 weeks.Karnovsky-Roots AchE staining showed that the motor endplates' color in the BTX-A and P-NCAM-Ab groups deepened gradually,though the color of the P-NCAM-Ab group was lighter than that of the BTX-A group at each time point.The mean optical density of the motor endplates' positive reaction area increased with time in both groups,but the P-NCAM-Ab group was lower than that of the BTX-A group at 1,2,4,8 and 12 weeks.Counting the nerve fibers dyed by gold chloride showed similar trends with both experimental groups significantly different from the control group.Conclusion P-NCAM-Ab can increase the potency of BTX-A and prolong its action.
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Objective To investigate the effect of Yishen-Daotan decoction on TCM syndrome elements of infertility caused by kidney deficiency and phlegm stagnant type polycystic ovary syndrome.Methods 60 patients of kidney deficiency and phlegm stagnant type polycystic ovarian syndrome infertilities were administrated with modified Yishen-Daotan decoction for 3 months and the changes of TCM syndrome elements,menstrual cycle and serum sex hormone were compared before and after the treatment.Results ① TCM syndrome elements had a statistical changes after the treatment compared with those before the treatment(t=62.79,P＜0.01).②menstrual cycle showed statistical difference after the treatment compared with that before the treatment,(x2=21.64,P＜0.01).③Serum FSH,E2 were increased,while LH,LH/FSH and T were decreased after the treatment,showing a significant difference compared with those before the treatment (t=2.67,P＜0.05).④The total effective rate was 91.67％ and pregnancy rate was 30％.Conclusion Yishen-Daotan decoction significantly improve clinical symptoms in patients with kidney deficiency and phlegm stagnant type PCOS infertility.
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Objective To develop a method for dynamically observing the biological efficacy of botulinum toxin A (BTX-A) and to investigate the dose-effect relationship between BTX-A dosage and muscle strength.MethodsFifty-four male Sprague Dawley rats were randomly divided into 9 groups.Groups 1-7 were injected intramuscularly with 0.1 ml BTX-A (0.01 U to 4.0 U) into the gastrocnemius on the right side.Rats in group 8 were injected intramuscularly with an equal volume of saline solution as the control group,and group 9 was used to determine the location of injection.Gastrocnemius muscle strength was evaluated using a self-made evaluation system before and after the toxin injection and on the 3rd,7th,14th,21st,30th,45th,60th and 75th day following.ResultsMuscle strength reached its lowest level on days 3 to 7,with a significant difference in the decline of muscle strength between the test groups and the control group up to day 60.With the lower BTX-A doses (0.01 U,0.1 U,0.5 U,1.0 U),muscle strength had decreased significantly on the 21st day,but recovered to its initial levels in all groups at the same time.There was no significant difference among the 1.0 U,1.5 U,2.0 U and 4.0 U groups.ConclusionsStandardized gastrocnemius injection combined with neuromuscular functional evaluation can establish a model of BTX-A dosage and muscle paralysis which can be used to assess the evolution of the biological efficacy of BTX-A.
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<p><b>OBJECTIVE</b>To investigate the gene frequencies and mutation patterns of alpha thalassemia (alpha-thal) and beta thalassemia (beta-thal) in Liuzhou city of Guangxi Zhuang Autonomous Region.</p><p><b>METHODS</b>Cluster sampling was used. A total of 1 028 of umbilical blood samples were collected for a prevalence study of alpha-thal and a total of 1 312 healthy young people when receiving pre-marriage consultation were recruited for a beta-thal prevalence survey. Individuals live in city or town area of Liuzhou. A complete blood count as well as hemoglobin electrophoresis analysis were done in all of samples for phenotyping of alpha and beta-thals. Those with Hb Bart's for alpha-thal indicator and those with both microcytosis (MCV < 85 fl) and elevated levels of Hb A(2) (>/=4.0%) for beta-thal were further studied by DNA analysis. PCR-based methodologies were used to characterize the mutation contributions of alpha and beta-thals. All the subjects were tested for the state of carrying beta-thala alleles for evaluating the situation of the compound heterozygotes of alpha-thal with beta-thal.</p><p><b>RESULTS</b>Of 1 028 random samples of umbilical blood screened, 112 of subjects were defined to be the gene carriers of alpha-thal. The alpha-thal carrier rate was as high as 11.19% including 3 compound heterozygotes. Five well-known types of alpha-thal alleles were detected with gene contributions of 37.4% (--(SEA) deletion), 31.3% (-alpha(3.7) deletion), 17.4% (-alpha(4.2) deletion), 12.1% (alpha(CS)alpha mutation), and 0.9% (alpha(QS)alpha mutation), successively. Of the 1 312 adult specimens studied, 89 with beta-thal including 14 of the compound higher Hb F subjects were detected. All of the 89 phenotypic beta-thal carriers had the mutations in the beta-globin gene, making the overall prevalence 6.78%. The commonly seen three mutations, beta CD41 - 42 (-CTTT) frameshift, beta CD17 (T-A) nonsense mutation and beta-28 (A-G) promoter variation were accounted for 90% of the beta-thal alleles in Liuzhou. Of these beta-thal subjects, 16 (accounting for 18%) were found to be the compound heterozygosity for a beta-thal and an alpha-thal with 9 different types of gene defects with a detection rate 1.22%.</p><p><b>CONCLUSION</b>Data from ecidation of alpha and beta-thal gene frequencies and mutation spectrum in Liuzhou city was useful for genetic counselling and prenatal diagnosis of this disease.</p>
Subject(s)
Adult , Female , Humans , Male , China , Epidemiology , Gene Frequency , Genetic Counseling , Prevalence , alpha-Thalassemia , Epidemiology , Genetics , beta-Thalassemia , Epidemiology , GeneticsABSTRACT
In the present investigation, the cytotoxic activity of tumor necrosis factor a was studied on human lung cancer cells in uitro. A wide range of TNF-ct concentration (from 100 to 10000 U/ml) was tested using the MTT assay. Data presented showed the suppressive effects of TNF-? on A549 dose-dependently and time-dependently; Twenty four hours exposure of A549 human cancer cells lo TNF-? shifted cells from G2 + M,S phase to GO + Gl phase as determined by analysis of isolated cell nuclei with an FACScan cell sorter. The results suggest that the mechanism of the eflect of TNF-a is to influence the cell cvcle of A549.