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Objective@#Screen the pathogenic genes of a pedigree with clinical manifestation of familial dilated cardiomyopathy in Inner Mongolia.@*Methods@#A total of 3 patients with dilated cardiomyopathy and 20 family members from the same family were examined in Ordos Central Hospital in Inner Mongolia from October, 2003 to August, 2017. Data on medical history, physical examinations, electrocardiograms, and echocardiography were obtained. 5 ml peripheral blood was sampled for per person. Chip Capture Sequencing technology was used to capture all the exons and splice sites of the genes that associated with hereditary cardiomyopathy and hereditary arrhythmia. The mutations in these genes were detected by high-throughput sequencing. All suspected pathogenic loci identified by high-throughput sequencing were verified by Sanger sequencing used for mutation detection. One hundred and fifty gender, age and race matched healthy people were included as the control group.@*Results@#Pathogenic gene variations were detected in 3 symptomatic family members and 1 carrier from the pedigree. Five pathogenic gene variations were identified in the proband (Ⅱ1), a pSer236Gly and a pArg215Cys variation in the MYBPC3 gene, a pGln90Arg variation in the DSP gene, and pAsn2912Asp and pGlu2910Val variation in the DMD gene. One pathogenic variation was detected in Ⅲ3, which was a pArg215Cys variation in the MYBPC3 gene. Two pathogenic variations were detected in Ⅲ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. Two pathogenic variations were detected in the Ⅳ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. No gene variation loci were detected in the other family members and the control group.@*Conclusion@#MYBPC3 gene, DSP gene and DMD gene variations are present in the familial dilated cardiomyopathy pedigree from Inner Mongolia, and these variations may be related with familial dilated cardiomyopathy.
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Objective To investigate influence of lafutidine combined with omeprazole in serum pepsinogen subgroup levels of patients with chronic atrophic gastritis. Methods One hundred and thirty-eight patients with chronic atrophic gastritis were selected in the First Affiliated Hospital of Changchun Traditional Chinese Medicine University from Dec. 2010 to Dec. 2013,who were randomly divided into two groups. Sixty-nine patients treated omeprazole( oral 1 pill/times,1 times/d)as control group,and another 69 patients were treated lafutidine( oral 2 pills/times,2 times/d ) combined with omeprazole as observation group. Both Course of treatment was 8 weeks. Changes of serum pepsinogen subgroups,improvement of clinical symptoms,treatment effect and adverse reactions were compared between two groups. Results After treatment,the levels of pepsinogen I,pepsinogen I/pepsinogen II increased significantly while pepsinogen II decreased significantly in two groups. Pepsinogen I,pepsinogen I/pepsinogen II in observation group were(89. 46 ± 13. 25)μg/L,10. 21 ± 1. 27,significantly higher than control group(( 62. 34 ± 11. 90 )μg/L,6. 45 ± 0. 93;t =7. 358,9. 125;P=0. 017,0. 004). Pepsinogen II in observation group was(8. 76 ± 3. 24)μg/L,significantly lower than control group((9. 68 ± 4. 76 )μg/L,t =4. 035,P =0. 049 ). Stomachache disappearance rate,abdominal distention disappearance rate,loss of appetite disappearance rate,total efficiency in observation group were 89. 9%, 85. 5%,84. 1% and 98. 6% respectively,significantly higher than control group( 73. 9%,65. 2%,60. 9% and 82. 6%),and the differences were statistically significant( P ﹤ 0. 05 ). Incidence of adverse reaction in observation group was 5. 8%,higher than control group( 2. 9%),but the difference was not statistically significant(χ2 =0. 697,P﹥0. 05). Conclusion Lafutidine combined with omeprazole can significantly improve clinical symptoms of patients with chronic atrophic gastritis,which can also significantly improve serum pepsinogen subgroup levels. Lafutidine combined with omeprazole have significant clinical effect and high safety, which is worthy of clinical application.
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OBJECTIVE@#The aim of this study is to investigate the expression and clinical significance of 6-phosphofructo-1-kinase in nasopharyngeal carcinoma biopsy samples.@*METHOD@#Sixty-one biopsy samples were detected, including 41 tissues samples from patients with nasopharyngeal carcinoma and 20 tissues samples from patients with chronic nasopharyngitis as control group. 6-phosphofructo 1 kinase mRNA expression was detected by RTPCR.@*RESULT@#It was observed that the expression levels of 6 phosphofructo-1-kinase mRNA in nasopharyngeal carcinoma tissues were higher than in the chronic inflammatory tissues. And the expression levels in patients with lymph node metastasis were higher than without lymph nod metastasis.@*CONCLUSION@#6-phosphofructo-1-kinase may be a marker in occurrence and metastasis of nasopharyngeal carcinoma.
Subject(s)
Female , Humans , Male , Biomarkers, Tumor , Metabolism , Carcinoma , Lymphatic Metastasis , Nasopharyngeal Carcinoma , Nasopharyngeal Neoplasms , Metabolism , Pathology , Phosphofructokinase-1 , Genetics , Metabolism , RNA, Messenger , MetabolismABSTRACT
Objective To explore the curative effect of combination therapy of low-temperature plasma radiofrequency ablation and nasal endoscopy for chronic nasal sinusitis. Methods From January 2010 to January 2012,98 patients with chronic nasal sinusitis in our hospital were ramdomly divided into observation group and control group. The observation group (49 cases) received plasma radiofrequency ablation at low temperature combined nasal endoscopic treatment. The control group (49 cases) were performed only nasal endoscopic treatment. The curative effect of the 2 groups were compared. Results After 1 month and 1 year, the total effective rate of the observation group were 91. 84% and 89. 80%, the total effective rate of the control group were 77. 55% and 73. 47% respectively. To compare the total effective rate of 2 groups were compared,there were statistically significant differences(P<0. 05). Conclusion Curative effect of plasma radiofrequency ablation at low temperature and nasal endoscopy is distinct,it is worthy of being widely applied in clinic.
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OBJECTIVE@#To investigate the therapeutic effect of intralesional bleomycin-A5 with dexamethasone injection under pedestal laryngoscope for huge laryngopharyngeal and laryngeal hemangiomas.@*METHOD@#Intralesional bleomycin-A5 with dexamethasone injection under pedestal laryngoscope was performed in huge laryngopharyngeal and laryngeal hemangiomas.@*RESULT@#The injection frequencies were 3 times in 4 cases, 4 times in 3 cases, and 5 times in 9 cases. Twelve cases (75%) were cured, and 4 cases (25%) were improved.@*CONCLUSION@#Intralesional bleomycin-A5 with dexamethasone injection under pedestal laryngoscope is a safe, effective and minimally invasive therapeutic method for huge laryngopharyngeal and laryngeal hemangiomas.