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Objective@#To identify the disease-causing mutations in a pedigree with familial hypertrophic cardiomyopathy (HCM) from Yunnan province, and analyze the relationship between the genotype and the phenotype.@*Methods@#The blood samples and the clinical data of the HCM family members were collected.The coding exons and their flanking intronic regions of 28 previously reported genes related to HCM were screened in the proband by high-throughput sequencing. The mutations in proband were confirmed and detected in all family members as well as in 159 healthy controls by Sanger sequencing.The relationship between the genotype and the phenotype was analyzed in this pedigree.@*Results@#Two missense mutations of Arg1045His and Ala26Val in β myosin heavy chain gene(MYH7) were identified. Genetic screening showed that the mother and brother of the proband carried Arg1045His mutation.Both mutations were absent in other family members and in 159 healthy controls.Disease onset age was less than 50 years old in this pedigree, chest pain, exertional dyspnea and syncope were the major symptoms, and all accompanied by severe left ventricular hypertrophy and left ventricular outflow tract stenosis.The grandma of the proband suffered sudden cardiac death. The proband had the worst symptoms and the earliest disease onset in this pedigree.@*Conclusions@#We find a pedigree with familial HCM from Yunnan province carrying MYH7 Arg1045His and Ala26Val mutations. The study suggests that Arg1045His mutation in MYH7 gene caused HCM is malignant with early onset, severe ventricular hypertrophy and poor prognosis. Arg1045His and Ala26Val double-mutant might have dosage effects and aggravate the clinical phenotype of the patient.
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Objective To explore the effect of computer-aided cognitive training on cognitive function and auditory event-related potential P300 in patients with vascular cognitive impairment no dementia (VCIND).Methods Sixty VCIND patients were randomly divided into two groups namely a training group and a control group,each of 30.Both groups were given routine drug treatment and the traditional rehabilitation training.At the same time,the training group was additionally given 40min computer-aided cognitive training once a day,six times a week,lasing 4 weeks.Before and after four weeks of treatment,the cognitive function,the ability of daily life (ADL) and P300 of the two groups were assessed using mini-mental state examination(MMSE),the Montreal cognitive assessment (MoCA),Barthel Index (BI) and Motor evoked potential instrument respectively.Results Before treatment,no significant difference was found in the average MoCA,MMSE and BI scores of the two groups.After treatment,improvement was observed in the total MoCA scores (22.40 ± 4.38),as well as the average score,of visual space and executive function (3.27 ± 0.58),attention (4.30 ± 1.60),language (2.67 ± 0.48),delayed memory (3.67±0.80),MMSE (22.03 ±3.55) and BI (82.17±11.28) in the training group compared with the control group.Before treatment,there was no significant difference in the P300 latency and amplitude between the two groups.After treatment,however,the P300 latency of the training group decreased to(352.1 ± 30.68) ms,significently lower than the control group [(356.45 ± 40.30) ms] and that before treatment.Meanwhile,the amplitude rose to(8.65 ± 1.18)μV,significantly higher than the control group [(8.65 ± 1.18) μV] and that before treatment.Conclusion Computer-aided cognitive training can effectively improve the cognitive function of patients with VCIND and promote their ADL.
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Objective To observe the clinical therapeutic effects of neuromuscular electric stimulation (NMES) on patients with swallowing disorders after stroke and to assess the value of surface electromyography (sEMG).Methods Forty stroke survivors with swallowing disorders were divided into a treatment group (20 cases) and a control group (20 cases) using a random number table.All of the patients were given routine medication and conventional swallowing training lasting 2 weeks,on the basis of which the patients in the treatment group were also given electrical stimulation.The seriousness of their swallowing disorders was evaluated and surface electromyographs were recorded for both groups before and after the 2 weeks of treatment.Results After treatment,the average dysphagia rating in the treatment group was significantly higher than before treatment,and significantly higher than that of the control group.sEMG of the suprahyoid muscles showed that the swallowing duration of both groups had significantly improved,but the values of the treatment group were significantly better than those of the control group.Conclusions NMES plus conventional swallowing training can significantly improve swallowing function for patients with swallowing disorders after stroke.sEMG can be regarded as an effective method for assessing swallowing disorders.
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<p><b>OBJECTIVE</b>To study the effect of water stress on the content of scutellarin and caffeate in Erigeron breviscaps.</p><p><b>METHOD</b>Fv/Fm, N content, as well as the content of scutellarin and caffeate under three water grads were measured.</p><p><b>RESULT AND CONCLUSION</b>Fv/Fm of the plant decreased significantly in 8% and 23% water treatment, that proved drought and waterlogging occurred. Under the two conditions, the contents of N were lower but the contents of active constituents were higher than those under 15% treatment. The results support the carbon-nutrient balance hypothesis and the "stress effect hypothesis" for the formation of geo-herbs.</p>
Subject(s)
Apigenin , Metabolism , Therapeutic Uses , Caffeine , Pharmacology , Dehydration , Drug Therapy , Therapeutics , Droughts , Erigeron , Chemistry , Metabolism , Gene Expression Regulation, Plant , Glucuronates , Metabolism , Therapeutic Uses , Plant Preparations , Therapeutic Uses , Plant Transpiration , Plants, Medicinal , Chemistry , Temperature , Water , PhysiologyABSTRACT
Objective To study the effects of N,P,and K fertilizers on the growth and accumulation of secondary metabolites,to reveal the accumulation relationship between the biomass and the secondary metabolites in medicinal plants in the plantation,and to establish the basic theory of fertilization in medicinal plant culture.Methods Orthogonal design was used to study the effects of nine combinations of N,P, and K on the biomass and active constituents in three levels of three factors.While plants flowered,they were harvested,weighed,and smashed.Then contents of N,total caffee esters,and scutellarin were anaylzed.Results High amount of N,P,and K fertilizers was optimum to the accumulation of biomass, but low amount of N,P,and K fertilizers was optimum to the accumulation of total caffee esters and scutellarin.The N fertilizer significantly increased the biomass and decreased the content of total caffee esters and scutellarin in Erigeron breviscapus,but did not affect the active constituents yield.The effect of P on the accumulation of active constituents was higher than that of K,but its effect on the biomass accumulation was lower than that of K.The effect of K on the active constituents yield was the highest.Conclusion N,P,and K fertilizers could increase biomass and active constituents yield,nevertheless,decrease the contents of flavonoids in medicinal plants.
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Objective To study the effect of light intensity and light quality on the growth and total flavonoid accumulation of Erigeron breviscapus. Methods Young plants of E. breviscapus were planted under various color films and light intensities, their biomass and total flavonoid content were determined when plants flowered. Results The biomass and total flavonoid content of individuals under 100% and 80% sunshine were higher than those under 50% sunshine. The biomasses of plants under yellow, red, purple, or blue film were lower than those under white film. Under the blue film, the total flavonoid content of the plant was the highest; while under white film, the total flavonoid yield was the highest. Conclusion Light intensity and light quality significantly affect the growth and total flavonoid accummulation of E. breviscapus. The biomass and total flavonoid yield are the highest when under full sunshine.
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Object To study the variation of total flavonoids in Erigeron breviscapus (Vant.) Hand.-Mazz. with the development periods, the months, the affection of the environment and genetical factors on the total flavonoids. Methods The total flavonoids in organs of E. breviscapus during the different deve-lopment periods and the months were determined. The total flavonoids of E. breviscapus in the sunny and shady habitats and the total flavonoids of E. breviscapus with different colors were compared. Results The total flavonoids of E. breviscapus mainly existed in the ground part. The total flavonoids of E. breviscapus are the highest in its flourishing period, and the lowest in its withering period. The variety of the total flavonoids in every organs of E. breviscapus in flourishing period from April to June was not significant. Illumination intensity had little affection to the total flavonoids of E. breviscapus. The colors of E. breviscapus flowers could not be the selected markers for the total flavonoids. The genetic factor played an important role in deciding the difference of the total flavonoids among the individuals. Conclusion It will be optimistic to improve the total flavonoids in E. breviscapus by genetic breeding.
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Object To study the regular change of total flavonoids in Erigeron breviscapus (Vant.) Hand-Mazz (TFE) in different parts of the plant, different individual plant and population from different habitat. Methods Samples of E. breviscapus from eight districts around Qiubei, Kunming and at altitude on Cangshan mountain, Dali were collected and their flavonoids determined.Results TFE showed different values in samples from different origin, with the tendency to show an increase with increase of altitude. The aerial parts including stem, leaf, and flower were higher than that of the underground root.E. breviscapus grown in the same ecological conditions also showed different TFE values from individual to individual.Conclusion Variation in TFE was influenced by the combined effects of genotype and ecological conditions.