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Objective:To evaluate the clinical and echocardiographic characteristics of valvular involvement in SLE patients and its predictive value for valvular outcome.Methods:A retrospective study included 58 adult SLE patients with valvular involvement diagnosed for the first time by echocardiography in the First Affiliated Hospital of Wenzhou Medical University. According to gender and age, 1∶2 SLE patients without valvular involvement were selected as the control group. Clinical and echocardiographic data within 24 hours after initial admission were collected. The predictive factors were analyzed using cox parametric regression analysis.Results:①Among 58 patients,significant valve lesions were detected by echocardiography in 50 and presented as valve thickening with regurgitation. The mitral valve was the most commonly affected, followed by the aortic valves. ②Compared with the non-valvular involvement group, the percent of CRP, SLC-R, IgA、aCL-IgG were higher in the valvular involvement group [CRP:60.3% vs 30.4%, χ2=10.54, P=0.001; SLC-R: 63.8% vs 19.8%, χ2=33.08, P<0.001; IgA:27.6% vs 22.4%, χ2=16.04, P<0.001; aCL-IgG: 27.6% vs 2.6%, χ2=24.84, P<0.001]. ③Cox parametric regression analysis showed that CRP [ HR (95% CI)=2.641(1.499, 4.654), P=0.001,SLC-R HR(95% CI)=3.234(11.776, 5.888), P<0.001], and aCL-IgG[ HR(95% CI)=2.166 (1.148, 4.087) , P=0.017] were independent predictors of valvular involvement. Conclusion:SLE patients with increased levels of CRP、SLC-R、IgA and aCL-IgG have a high risk of valvular involvement. CRP、SLC-R and aCL-IgG are independent predictors of valvular involvement.
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Objective To investigate the value of echocardiography in assessing right ventricular function of primary light-chain amyloidosis(AL)-cardiac amyloidosis(CA)patients.Methods A total of 25 patients biopsy diagnosed as AL-CA,who were admitted to the First Affiliated Hospital of Wenzhou Medical University from January 2018 to December 2021,were enrolled in this study as amyloidosis group.And 25 heathy volunteers were set as control group.The routine right ventricular morphology and functional parameters were acquired by standard echocardiography.Right ventricular global longitudinal strain(RVGLS)and right ventricular free wall longitudinal strain(RVfwLS)were obtained by two-dimensional speckle tracking imagine.Tricuspid annular plane systolic excursion(TAPSE)/pulmonary artery systolic pressure(PASP),RVGLS/PASP,RVfwLS/PASP ratio were calculated as the noninvasively parameters of right ventricular-pulmonary artery coupling.Results ①Compared with control group,patients in amyloidosis group showed significantly larger right heart size,and significantly thicker right ventricular free wall[(7.16±1.84)mm vs.(3.76±0.66)mm],the difference was statistically significant(P<0.001).②Compared with control group,RVGLS[(17.43±2.45)%vs.(23.22±3.73)%]and RVfwLS[(18.44±2.10)%vs.(22.62±3.64)%]were significantly impaired in amyloidosis group,the difference was statistically significant(P<0.001).The ratios of TAPSE/PASP,RVGLS/PASP,RVfwLS/PASP were found to be lower in amyloidosis group,the difference was statistically significant(P<0.001).③TAPSE/PASP showed mild correlations with N-terminal brain natriuretic peptide precursor(NT-proBNP),highly sensitive T cardiac troponin(hs-TNT)(r=0.45 and 0.40)there were statistically significant(P<0.05).Conclusion Echocardiography can effectively evaluate the right heart function impairment in AL-CA patients,providing valuable information for a deeper understanding of the pathological and physiological mechanisms of the disease.
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Objective To identify disease-causing mutations in a large panel of Chinese Han patients with hereditary spastic paraplegia(HSP).Methods The coding sequence of the SPG11 gene in the probands of 28 families with ARHSP and 14 sporadic HSP patients was analyzed,and the identified changes in the sequence were tested to exclude being a benign polymorphism by sequencing 200 chromosomes from normal controls.Results Identified 13 causative mutations in SPG11 gene in 7 ARHSP and 3 sporadic HSP The mutations were:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.Among them,12 were novel mutations.The rate of mutation in the SPG11 gene was 25.0%(7/28)in ARHSP,6/6 in ARHSP-TCC and 3/14 in sporadic cases.Conclusions In Chinese Han population,patients with ARHSP-TCC and sporadic HSP-TCC should be screened for SPG11.Sequencing of the SPG11 gene in these patients with is valuable for clinical diagnostic testing.
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<p><b>OBJECTIVE</b>To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.</p><p><b>METHODS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing.</p><p><b>RESULTS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.</p><p><b>CONCLUSION</b>The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.</p>
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Humanos , Pueblo Asiatico , Genética , Estudios de Cohortes , Factores de Intercambio de Guanina Nucleótido , Genética , Mutación , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Espectrina , Genética , Ataxias Espinocerebelosas , GenéticaRESUMEN
Background Left atrium size was reported as a marker for ventricular diastolic dysfunction and predictive risk factors for cardiovascular disease.Objective To analyze the relations between left atrial(LA) size and left ventricular(LV) diastolic function echocardiographically in rabbit model with LV dysfunction while with normal LVEF.Methods LV pressure overloaded animal model was established by abdominal aorta constriction in 18 New-Zealand rabbits(model group) which developed LVH with normal EF with 8 healthy rabbits as normal controls.LA dimension and volume(LAD,LAV),left ventricular dimension(LVD) and wall thickness(IVST,PWT),Transmitral inflow E and A,and mitral annulus velocities Ea and Aa were determined by echocardiography.LVEDP was measured within 24 hours after echo examination by catheterization.Results ①Increased LVD,IVST,PWT and LA size were found in model group(P
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Objective To study the effects of Jianwei Yuyang granule on TGF-? 1 expression in the healing process of rat gastric ulcer induced by acetic acid. Methods Animal model of gastric ulcer in rat was set up with the modified Okabe's method, and the TGF-? 1 expression in the gastric ulcerated tissues was detected by immunohistochemical technique. Results TGF-? 1 expression in gastric ulcerated tissues during the healing process in Jianwei Yuyang group significantly increased compared with the normal, model and famotidine treatment groups. Conclusion TGF-? 1 expression in gastric ulcerated tissues induced by acetic acid during the healing process significantly increased,especially in Jianwei Yuyang group. Jianwei Yuyang granule may accelerate gastric ulcer healing by increasing TGF-? 1 expression in gastric ulcerated tissues.
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Objective To investigate the protective effects and its mechanism of Jianwei Yuyang Granule (JYG) on gastric mucosa of experimental gastric ulcer rats. Methods The model of gastric ulcer was established by the modified Okabe’ s method.The ulcer index was recorded, and the expression of IL- 1? and bFGF was determined with histochemistry. Results The ulcer index of JYG group was significantly lower than that of model group and famotidine group (P