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Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.
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Objective To investigate the prevalence,mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by using tandem mass spectrometry screening.Methods In Hunan province,565 182 newborns who underwent tandem mass spectrometry (MS/MS) screening for IMDs were studied,including fatty acid oxidation disorders (FAODs),amino acid disorders (AAs),and organic acidemias (OAs) between March 2013 and September 2017.For the patients with positive results,a recall screening test was performed,and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD,guideline-directed medical treatment was administrated,and the follow-up outcomes was evaluated.Results A total of 107 newborns were diagnosed with IMDs,with an overall prevalence of 1 ∶ 5 282,including 65 newborns with FAODs (1 ∶ 8 695),29 newborns with AAs (1 ∶ 19 489),and 13 newborns with OAs (1 ∶ 43 476).The primary carnitine deficiency(PCD) (44 cases),hyperphenylalaninemia (HPA) (17 cases),short-chain acyl-CoA dehydrogenase deficiency (SCADD) (12 cases),citrine deficiency(NICCD)(6 cases) were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c.51C ＞ G(25.3％),c.1400C ＞ G(23.0％),and c.760C ＞ T(13.8％);in PAH gene of HPA were c.728G ＞ A (22.2％) and c.721C ＞ T(14.8％);in ACADS gene of SCADD was c.1031A ＞ G(38.9％);and in SLC25A13 gene of NICCD was c.851_854delGTAT (50.0％),respectively.The remaining IMDs were rare,and the hotspot mutations were unclear right now.During a mean follow-up of (26.1 ± 5.6) months,7 patients died,4 patients suffered an intelligent disability,whereas the remaining 96 subjects had normal physical and intelligent devdopment.Conclusions The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.
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Objective@#To investigate the prevalence, mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by using tandem mass spectrometry screening.@*Methods@#In Hunan province, 565 182 newborns who underwent tandem mass spectrometry (MS/MS) screening for IMDs were studied, including fatty acid oxidation disorders (FAODs), amino acid disorders (AAs), and organic acidemias (OAs) between March 2013 and September 2017.For the patients with positive results, a recall screening test was performed, and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD, guideline-directed medical treatment was administrated, and the follow-up outcomes was evaluated.@*Results@#A total of 107 newborns were diagnosed with IMDs, with an overall prevalence of 1∶5 282, including 65 newborns with FAODs (1∶ 8 695), 29 newborns with AAs (1∶19 489), and 13 newborns with OAs (1∶43 476). The primary carnitine deficiency(PCD)(44 cases), hyperphenylalaninemia (HPA)(17 cases), short-chain acyl-CoA dehydrogenase deficiency(SCADD)(12 cases), citrine deficiency(NICCD)(6 cases) were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c. 51C>G(25.3%), c.1400C>G(23.0%), and c. 760C>T(13.8%); in PAH gene of HPA were c. 728G>A (22.2%) and c. 721C>T(14.8%); in ACADS gene of SCADD was c. 1031A>G(38.9%); and in SLC25A13 gene of NICCD was c. 851_854delGTAT (50.0%), respectively.The remaining IMDs were rare, and the hotspot mutations were unclear right now.During a mean follow-up of (26.1±5.6) months, 7 patients died, 4 patients suffered an intelligent disability, whereas the remaining 96 subjects had normal physical and intelligent development.@*Conclusions@#The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.
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Objective To explore the influence factors of health literacy in middle-aged and elderly people in Hunan province.Methods With multi-stage randomized cluster sampling, people aged 45 years and over were selected from both urban and rural areas of six geographical regions of Hunan province, using the China residents health literacy questionnaire developed by Chinese Health Education Center, by face to face survey to get data. The influence factors were analyzed retrospectively with univariate and ordinal regression analysis.Results The 1158 persons were investigated and the valid questionnaires were 1154, the effective recovery rate was 99.7%. Univariate analysis showed that there were significant differences in heath literacy among different degree of education, age, gender, marital status, income, region and occupation (all P＜0.05). The results of ordinal regression analysis Showed that the major influence factors were degree of education, income,age and occupation.Conclusions The people at low levels of education or income should be concerned about health education and health promotion strategies.
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The past decade has seen an explosion of new information on the physiology of penile erection, and pathophysiology of erectile dysfunction (ED). Hypercholesterolemia is a chronic condition that can lead to degeneration in the vasculature bed and can result in ED if the penile vasculature is involved. Angiogenesis is the growth of new blood vessels from preexisting vasculature. Therapeutic angiogenesis seeks to harness the mechanisms of vascular growth to treat disorders of inadequate tissue perfusion, such as coronary artery disease and ED. There have been tremendous changes in the field of therapeutic angiogenesis over the past decade, and there is much promise for the future. Initial preclinical work with cytokine growth factor delivery resulted in a great deal of enthusiasm for the treatment of ischemic heart and/or peripheral vascular disease, though clinical studies have not achieved similar success. With an increased understanding of the complex mechanisms involved in angiogenesis, novel therapies which target multiple different angiogenic pathways are also being developed and tested. The penis is a convenient tissue target for gene therapy because of its external location and accessibility, the ubiquity of endothelial lined spaces, and low level of blood flow, especially in the flaccid state. Therapeutic angiogenesis is an exciting field that continues to evolve. This review will focus on the development of growth factors for hypercholesterolemic ED, the use of various growth factors for ED therapy, their routes of delivery, and the results in animal studies.
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Animais , Humanos , Masculino , Disfunção Erétil , Terapêutica , Fator 2 de Crescimento de Fibroblastos , Genética , Expressão Gênica , Terapia Genética , Hipercolesterolemia , Neovascularização Fisiológica , Óxido Nítrico Sintase , Genética , Fatores de Crescimento do Endotélio Vascular , GenéticaRESUMO
Objective To investigate the effect of nuclear factor ?B(NF-?B)decoy on the chemokine expression in bladder cancer cell line. Methods Human bladder cancer cell line EJ,NF-?B decoy ODN were used as a NF-?B inhibitor(scrambled NF-?B decoy was used as control).NF-?B DNA binding activity was detected by electrophoretic mobility shift assay (EMSA);and p65 subunit of NF-?B was detected by RT-PCR and Western blot.Chemokines including IL-8,MCP-1,RANTES were detected by RT-PCR. Results EMSA showed that NF-?B decoy inhibited NF-?B activation induced by TNF-?.RT-PCR or Western blot test suggested that p65,IL-8,MCP-1 and RANTES were upregulated by TNF-? and downregulated by NF-?B decoy.However,mutated decoy ODN had no effect on them. Conclusions Chemokines can be detected in bladder cancer.They are activated by TNF-? and inhibited by NF-?B decoy.