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OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome.@*METHODS@#Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting.@*RESULTS@#A novel homozygous variant, c.1222delG of the DYM gene was detected in the two affected siblings, for which both parents were heterozygous carriers. The variant has caused replacement of Asp by Met at amino acid 408 and generate a premature stop codon p.Asp408Metfs*10. Western blotting confirmed that the variant can result in degradation of the mutant DYM protein, suggesting that it is a loss of function variant.@*CONCLUSION@#The homozygous c.1222delG frameshift variant of the DYM probably underlay the Dyggve-Melchior-Clausen syndrome in the two affected siblings. Above findings has enabled clinical diagnosis and genetic counseling for the family.
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Humanos , China , Nanismo/genética , Deficiência Intelectual , Osteocondrodisplasias/genética , LinhagemRESUMO
Objective:To construct a plan for relieving fatigue in breast cancer patients undergoing chemotherapy.Methods:We combined literature and clinical experience to construct a fatigue relief plan for breast cancer chemotherapy patients from August to October 2020. A total of 21 domestic two-glandular surgeons, nursing experts, and surgical nursing teachers were invited to conduct 2 rounds of Delphi expert letter inquiries, and analyzed the positive coefficient of experts and the degree of expert authority to evaluate the reliability of experts, and evaluated the coordination degree of expert opinions through the coefficient of variation and Kendall's harmony coefficient.Results:The effective response rate of the two rounds of questionnaires was 100%, the enthusiasm coefficient of experts was very high. The authority coefficients of the 2 rounds of consulting experts were 0.89 and 0.90 respectively (all>0.7), expert authority coefficient was very high. The Kendall harmony coefficients of the first-level and second-level indicators in the first round were 0.160 and 0.086, statistically significant (all P<0.05). In the second round, the Kendall′s harmony coefficients of dimension, first-level and second-level indicators were 0.190, 0.211, 0.378, statistically significant (all P<0.05). The coefficient of variation of each item in the second round was 0.04-0.12, and the full score rate was 28.57%-95.24%. All met the index screening standards established by the scheme. Finally, 3 dimensions, 3 first-level indicators and 16 third-level indicators were determined. Conclusions:The fatigue relief plan for breast cancer chemotherapy patients has necessity, practicality and scientificity.It has guiding significance for standardizing the fatigue relief of patients undergoing chemotherapy after radical mastectomy.
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@#Objective To detect the effective connectivity of resting- state functional magnetic resonance imaging (fMRI) in normal adults. Methods 36 normal adults were performed resting-state fMRI scanning, and 5 brain netwokes were included as regions of interests. Independent component (ICA) was used to evaluate the effective connectivity, and multivariate Granger causality analysis (mGCA) was used to analyze the casuality between the networks. All preprocessing steps were carried out using Statistical Parametric Mapping 5.0 software. Results 5 classic resting brain networks including default mode network (DMN), memory network (MeN), motor network (MoN), auditory network (AN) and executive control network (ECN) were aquired. The mGCA presented significant casuality between DMN and other 4 networks, MeN and ECN, AN and MoN, ECN and AN. Conclusion There are specific brain effective connectivity of resting-state fMRI in normal adults, and there is significant causal link between these networks.
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Objective Recent studies reveal important roles of platelet P-seleetin on progression of atherosclerosis.In the present study,we examine the relation between Platelet P-selectin expression and severity of acute coronary syndromes.Methods One hundredand eighty-four consecutive patients with proven or clinically suspected acute coronary syndromes(ACS)were enrolled in the study.Level of P-selectin expression was determined bv flow cytometry.Platelet P-selectin level was expressed as the percentage of P-selectin positive platelet.Results The level of P-selectin was higher in patients with a single diseased coronary artery or multiplediseased arteries compared to thOSe with normal coronary arteries.P-selectin expression was significantly and positively correlatedwith angiographic Gensini score(r=0.323,P=0.029).Multiple regression analyses showed that the association of the percentage of P-selectin-positive platelets with ACS was independent of other clinical factors. Conclusions Platelet P-selectin is associated withseverity of acute coronary syndromes in patients with acute coronary syndromes.
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The formation of medical ethics sense is affected and restricted by several factors including medical staff's psychological essence of general morality,learning attitude towards medical ethics,recognition process of medical ethics,and social environmental factors.It is the constant motions and interactions of those essential factors that regulate the medical ethics of medical ethics sense.