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OBJECTIVE@#To study the correlation of splicing mutations at the 5' end of the DMD gene with their phenotypes.@*METHODS@#DMD gene mutations were analyzed using Multiplex Ligation Probe Amplification (MLPA) and Sanger sequencing. Co-segregation analysis was performed for the pedigrees of the probands. Influence of mutations on protein function was predicted by bioinformatic analysis.@*RESULTS@#Three novel splicing mutations were identified in three patients with different phenotypes. Patient 1 carried a c.31+3insT mutation and presented primarily with dilated cardiomyopathy (XLDC). There was no clinical signs of skeletal myopathy. Bioinformatic analysis predicted that the mutation may inactivate the splicing donor of intron 1 and lead to premature termination of protein translation. Patient 2 carried a c.264_264+4delTGTAA mutation, which led to loss of splicing donor site for intron 4, and manifested Becker muscular dystrophy (BMD). The mutation was predicted to result in skipping of exon 4. The defective protein may still retain most of its function. Patient 3 had Duchenne muscular dystrophy (DMD) and carried a c.832-3C>T mutation which was predicted to decrease the activity of splicing acceptor of intron 8, resulting in usage of alternative acceptor site or retain of intron 8. All related transcripts may cause premature termination of protein translation and complete loss of protein function. The three mutations were all inherited from the mothers of the patients.@*CONCLUSION@#Three novel splicing mutations were discovered at the 5' end of DMD gene in three patients with different disease phenotypes. Our study may facilitate understanding of the influence of splicing mutations at the 5' end of the DMD gene on dystrophin function and the correlation between genotypes and phenotypes.
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Humans , Dystrophin , Genetics , Muscular Dystrophy, Duchenne , Genetics , Mutation , Phenotype , RNA SplicingABSTRACT
Objective To investigate the low hemoglobin density (low haemoglobin density,LHD) and red blood cell volume distribution width (red blood cell volume distribution width,RDW) in iron deficiency anemia (iron-deficiency anemia,IDA)in children with the value of diagnosis and treatment.Methods From February 2016 to May 2017,in the Second People's Hospital of Longgang District in Shenzhen City,86 cases of children with iron deficiency anemia for IDA group,and 120 cases of healthy children (as the control group) at the same time were confirmed.Blood routine of children with IDA were detected before and after treatment hemoglobin concentration and the results were analyzed statistically.Results 120 cases of healthy children in the peripheral blood LHD value was 2.74 ％ ± 0.90 ％ and the boy was 3.07 ％ ± 0.81％,higher than that of 2.26 ％ ± 0.69 ％ of the girls.Between them,there was statistically significant difference (t=3.815,P＜0.05).The value of RDW was 12.37 ％ ± 2.84 ％,12.09 ％ ± 2.80 ％ for the boys and 12.56 ％ ± 2.87 ％ for the girls,there was no statistically significant difference between the them (t=0.517,P＞0.517).Before treatment,86 cases of children with IDA LHD and RDW values in peripheral blood were 30.67 ％ ± 20.12 ％ and 16.62 ％ ± 3.27 ％,significantly higher than the control group,the difference was statistically significant between (t=4.025 ～ 4.025,P＜0.05 ～ 0.01),and there was no statistically significant difference between male and female children (t =0.761 ～ 0.917,P＞ 0.05).After treatment L HD and RDW values were 10.65 ％ ± 8.92 ％ and 14.02 ％ ± 2.93 ％,significantlylower than before the treatment,between them was statistically significant difference (t=2.912～9.675,P＜0.05).Conclusion Children with iron deficiency anemia treatment before the LHD and RDW values significantly elevated in the blood,significantly decreased after treatment,the LHD and RDW values for diagnosis and treatment of children with iron deficiency anemia dynamic monitoring has certain application value,worthy of popularization and application.
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Objective To investigate the influencing factors on thrombin time (TT) assay to ensure the accuracy of the detection results.Methods Totally 3 out-and in-patients from January to July 2015 with normal results of prothrombin time (PT),activated partial clotting enzyme live time (APTT) and fibrinogen (FIB) were selected,whose detection results were not satisfactory.The specimen underwent re-centrifugation,and then Beckman ACL TOP700 automatic coagulation analyzer was used to detect four coagulation indexes.The detection results were compared with those before re-centrifugation,and the differences between the results were analyzed statically.Results The values of PT,APTT and FIB of the three patients before and after re-centrifugation were (10.8,11.5,9.7 s),(29.5,32.7,25.2 s),(2.49,3.12,2.85 g/L) and (10.9,11.3,10.0 s),(30.4,31.5,25.9 s),(2.31,3.28,2.67 g/L) respectively,and the differences between the results were not significant (with t ranging from 0.627 to 1.719 and P＞0.05).The values of TT of the three patients before and after re-centrifugation were (66.51,127.3,89.62 s) and (12.2,15.7,13.8 s) respectively,and there were obvious differences between the values (with t ranging from 51.743 to 79.167 and P＜0.001).Conclusion Insufficient centrifugation has high influences on the detection result of TT except other coagulation indexes,and re-centrifugation is necessary for the accuracy of TT value to eliminate misdiagnosis.
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Objective:To have the performance verification of Johnson Vitros 5600 fully automatic biochemical analyzer (hereinafter referred to as Vitros 5600 analyzer) emergency immunological parameter is to provide more accurate and more efficient service for the patients in emergency inspection items.Methods: According to the clinical laboratory standards institute (CLSI) evaluation criterion and Johnson validation plan, we verified the precision, accuracy, linear range, reference range, and carry pollution rate detection indexes of Myoglobin, Troponin I (TropI), N-terminal brain natriuretic titanium (NTproBNP) and total beta human chorionic gonadotropin (TβHCG) about the Vitros 5600 analyzer emergency projects evaluated the performance of the analyzer.Results: The batch precision CV of Myoglobin, TropI, NTproBNP and TβHCG tested by Vitros 5600 analyzer is 0.58~2.02%, < 2.5%, and the inter assay CV is 1.43~3.15%, < 5.0%. Accuracy relative bias is -3.52~4.21%. Linearity relationship is good within the scope of testing,r2 is 0.9836~0.9998, and the slope (a) is 0.9865~1.0207. Carry pollution rate is 0.096~0.180%. Reference range verification coincidence rate is R≥95%.Conclusion: The detection index performance of Vitros 5600 analyzer detecting immune emergency projects is good. It can meet the demand of emergency immune inspection work.
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Objective To understand Shenzhen Longgang,guangming and longhua new district four district hospital ICU pa-tients with secondary pulmonary tuberculosis merger lower respiratory infection of pathogenic bacteria distribution and drug resistance status of provide a reference for clinical diagnosis and rational use of antibiotics therapy.Methods Random selec-tion from February 2013 to October 2015 in the three district hospital ICU diagnosis of secondary pulmonary tuberculosis patients with lower respiratory infection in 593 cases of sputum specimen pathogenic bacteria culture and drug susceptibility results were retrospectively analyzed.Results 593 cases of ICU secondary pulmonary tuberculosis patients with respiratory tract infection of the communist party of China isolated 617 strains of pathogenic bacteria,fungi accounted for 49.6% (306/617),gram negative bacilli accounted for 40.4% (249/617),gram positive cocci accounted for 10.0% (62/617).Fungal in-fection main pathogens for white smooth candida yeast and candida yeast,respectively accounted for 44.2% (273/617)and 4.5% (28/617),gram negative bacillus mainlyKlebsiellaPneumoniae,Pseudomonasaeruginosa,and H.influenzae,respec-tively accounted for 16.7% (103/617),12.0% (74/617)and 7.3% (45/617),gram-positive cocci mainly for Saphylococcus aureus and Epidermisstaphylococcus and Hemolyticstaphylococci,respectively accounted for 4.5% (28/617),3.2% (20/617)and 0.9% (5/617).Pathogenicbacteria isolated from the multiple drug resistant bacteria,present different levels of resistance to commonly used antimicrobial agents.Conclusion ICU patients with secondary pulmonary tuberculosis merger of lower respiratory tract infection pathogens to fungi and gram-negative bacilli,the most commonWhite candida,Klebsiella pneumoniae,and Pseudomonasaeruginosa,and different levels of resistance to commonly used antimicrobial agents.
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<p><b>OBJECTIVE</b>To investigate the effects of ephedrine combined with various doses of naloxone on neural plasticity in rats after cerebral ischemia/reperfusion injury to explore the possibility of synergistic effect about ephedrine combined with naloxone, promoting the optimum ratio of neural remodeling and its molecular mechanism.</p><p><b>METHOD</b>A total of 192 healthy adult Sprague-Dawley rats, 220-250 g, were used to establish models of left middle cerebral artery occlusion using the suture occlusion method. Were randomly divided into 8 groups: the rats were intraperitoneally injected with 1.5 mg x kg(-1) x d(-1) ephedrine (ephedrine group), with 0.1, 0.2, 0.3 mg x kg(-1) x d(-1) naloxone (low, moderate and high doses of naloxone groups) , with 1.5 mg x kg(-1) x d(-1) ephedrine + 0.1, 0.2, 0.3 mg x kg(-1) x d(-1) naloxone (ephedrine + low, moderate and high doses of naloxone groups), and with 0.5 mL saline (model group), respectively. At 1-4 weeks following cerebral ischemia, sensorimotor integration in rats was assessed using the beam walking test, brain-derived neurotrophic factor (BDNF) expression was detected in the hippocampal CA3 area using immunohistochemistry 1-4 weeks after surgery, immunofluorescence method of detecting ischemic hemisphere hippocampal expression, The number of nerve cells apoptosis was detected using TUNEL assay.</p><p><b>RESULT</b>BWT, BDNF, TUNEL assay results showed three doses of naloxone group had no significant effect, the effects increased together with the quantitative ephedrine, and had the amount-effect relationship, in which ephedrine + high dose of naloxone group the recovery of movement was fastest, BDNF expression in the best and ischemic apoptosis in the hippocampus at least, ischemic injury to the minimum, speed up the process of neural remodeling.</p><p><b>CONCLUSION</b>The ephedrine and ephedrine + naloxone groups were accelerated motor function recovery rate in rat after cerebral ischemia, and the promotion of neural remodeling is closely related to the expression of BDNF, inhibit apoptosis in ischemic area, and with the increase of naloxone amount of additives, its role more clearly, the mechanism may be related to the dose of naloxone can significantly inhibit the ischemic area of apoptosis in early cerebral ischemia, so had the positive synergy effect with ephedrine to speed up the formation of neural remodeling.</p>