RESUMO
α-Actinin-2 (ACTN2) is the only muscle isoform of α-actinin expressed in cardiac muscle. Mutations in this protein have been implicated in mild to moderate forms of hypertrophic cardiomyopathy (HCM). We have investigated the effects of two mutations identified from HCM patients, A119T and G111V, on the secondary and tertiary structure of a purified actin binding domain (ABD) of ACTN2 by circular dichroism and X-ray crystallography, and show small but distinct changes for both mutations. We also find that both mutants have reduced F-actin binding affinity, although the differences are not significant. The full length mEos2 tagged protein expressed in adult cardiomyocytes shows that both mutations additionally affect Z-disc localization and dynamic behaviour. Overall, these two mutations have small effects on structure, function and behaviour, which may contribute to a mild phenotype for this disease.
Assuntos
Actinina/metabolismo , Actinas/metabolismo , Proteínas de Ligação ao Cálcio/metabolismo , Cardiomiopatia Hipertrófica/metabolismo , Proteínas dos Microfilamentos/metabolismo , Mutação , Miócitos Cardíacos/metabolismo , Actinina/química , Actinina/genética , Adulto , Cardiomiopatia Hipertrófica/genética , Dicroísmo Circular , Cristalografia por Raios X , Humanos , Ligação Proteica , Estrutura Secundária de Proteína , CalponinasRESUMO
Objective:To discuss the clinical results of treatment for congenital muscular torticollis with different injection points of botulinum toxin type A and traditional conservative method, and to expound the safety and effectiveness of this way.Methods:From January 2018 to December 2018, 60 cases aged from one month to six months with congenital muscular torticollis who visited the outpatient clinic of plastic surgery in Children's Hospital of Quanzhou, a teaching hospital of FuJian Medical University, and there were 38 males and 22 females. The treatment groups were divided into two groups according to random number method that were treated with botulinum toxin type A: the single point group was given one point injection, and the three-point group was injected with three points, while the control group was treated with traditional conservative treatment (mainly manual stretching exercises). The number of cases in each group was 20.Results:The differences of muscle thickness and muscle length were repeatedly measured at different time points in the same group and variance analysis conducted. The results showed that there were statistical significances among the two indicators at different time points in each group ( P<0.05). Least significant difference (LSD) was further adopted for pairwise comparison between indicators at different time points in each group and the differences were statistically significant ( P<0.05). In the comparison of treatment effect of different groups after twelve months follow-up, the cure rate was 85% (17 cases) in the single point group, 95 % (19 cases) in the three-point group, and 80 % (16 cases) in the control group, there was no significant difference among three groups ( P>0.05). Conclusions:Local injection of botulinum toxin type A is a safe and effective treatment option for congenital muscular torticollis, which can achieve the same clinical effect as traditional conservative treatment.
RESUMO
Objective There are few researches for the serum betatrophin level and diabetic nephropathy (DN) recently.The aim of this study was to investigate the change of serum betatrophin level and the correlation of serum betatrophin and urinary albumin-to-creatintine ratio (UACR) in patients with type 2 diabetes mellitus (T2DM).Methods A total of 150 Chinese subjects from Mar 2013 to Jul 2016 were enrolled in the study, including 90 patients with type 2 diabetes and 60 healthy controls.According to the level of UACR, the diabetic patients were divided into two groups:normal UACR group (UACR30 mg/g, n=30).Serum betatrophin was measured by enzyme linked immunosorbent assay (ELISA).UACR was measured by turbidimetric inhibition immune assay.Blood glucose blood lipid were measured simultaneously.Results The serum betatrophin level was significantly higher in abnormal UACR group than that in normal UACR group[677.37±59.02 vs 486.13±41.22 pg/mL, P<0.05];Serum betatrophin level in T2DM patients was positively correlated with age (r=0.246), waist hip ratio (WHR) (r=0.240), fasting blood glucose (FPG) (r=0.234), 2 hour plasma glucose (2hPG) (r=0.363), glycosylated hemoglobin (HbA1c) (r=0.346), fasting insulin (FINS) (r=0.249), insulin resistance index (HOMA-IR) (r=0.309), blood urea nitrogen (BUN) (r=0.223), creatinine (CREA) (r=0.277) and UACR (r=0.244) (P<0.05),and negatively correlated with glomerular filtration rate (GFR) (r=0.308) (P<0.01).Serum betatrophin level in normal UACR group was positively correlated with age, HbA1c and UACR (P<0.05);Serum betatrophin level in abnormal UACR group was positively correlated with WHR (r=0.504), 2hPG (r=0.600), HbA1c (r=0.449), HOMA-IR (r=0.395) (P<0.05).The WHR, HbA1c, HOMA-IR and GFR were the influential factors of the serum betatrophin level.Conclusion The level of serum betatrophin was significantly increased in T2DM patients with albuminuria, which suggests that the betatrophin might play an important role in the pathogenesis of DN.
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Objective Ethanol, acid and alkali were used in the traditional Bererine extracting which required quite a few extracting time and polluted the environment. Water instead of ethanol was used. Microwave irradiation was chosen as the extracting method. Methods The best parameters, microwave power, extracting time, solid-liquid ratio were got in the experiment. According to the orthogonal experimental design, the optimum extracting condition was determined. Results Microwave irradiation, compared with the traditional extracting techniques, was with short extracting time. Conclusion The method was practicable and the product possessed the virtue of high purity, safe quality and free pollution.