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Objective@#To understand the quality of life and influencing factors of patients with pneumoconiosis, and to provide a basis for formulating targeted improvement strategies to improve the quality of life.@*Methods@#From April to December 2018, Questionnaire survey was conducted on patients with pneumoconiosis that diagnosed in Hangzhou Hospital for the Prevention and Treatment of Occupational Disease, using self-made questionnaire and SF-36.237 valid questionnaires were used to investigate the basic conditions, health services, social assistance and quality of life of patients, and analyze the influencing factors of quality of life.@*Results@#Hangzhou city's some pneumoconiosis patients were mostly with monthly income <3000 yuan (72.6%, 172/237) ; more patients with medical expenses of 8000 to 25000 yuan per year (60.3%, 143/237) ; The proportion of patients receiving medical assistance and work-related injury insurance was low, at 2.1% (5/237) and 23.8% (54/227) respectively. The scores of Pneumoconiosis patients in PhysicalFunction (PF) , Role-Physical (RP) , Bodily Pain (BP) , General Health (GH) , Vitality (VT) , Social Function (SF) , Role-Emotional (RE) and Mental Health (MH) were lower than the national norm (P<0.05) . The scores from high to low were BP, SF, MH, PF, VT, RE, RP and GH. There were significant differences in the quality of life scores of pneumoconiosis patients with different ages, work types, education levels and monthly income (P<0.05) .@*Conclusion@#The quality of life of some patients with pneumoconiosis in Hangzhou is lower than that of the general population. Age, work types, and monthly income are factors influencing quality of life.
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Objective To screen and analyze nucleotide variants in 5'-untranslated region(5'-UTR)in voltage-gated sodium channel α1-subunit gene(SCN1A)in patients with Dravet syndrome and to evaluate the association of the variants with disease.Methods Peripheral blood of 24 patients with Dravet syndrome and 100 unrelated normal persons were collected and genomic DNA was extracted.PCR-sequencing of SCN1 A 5'-UTR in these DNA was performed.To evaluate the possibility of mutation inducing disease,bioinformatics analysis was applied to analyze the conservation of the sequences around the mutation site and predict the potential transcription elements.Results The nucleotide variant of 166.642.520G→A in exon 2 was identified in two patients,but not in normal controls.The mutation was a de novo mutation in a patient with early-onset.In the second proband,the mutation was also carried by his clinically asymptomatic mother.The nucleotide site 166.642.520 was moderately conserved in mammals(62.5%).The average nucleotide identity rate between human and other mammals species in the region adjacent to 166.642.520 was 88.5%.Two potential transcription regulatory elements were predicted on the sequence with the mutation of 166.642.520G>A,and only one on the sequence with wild-type.Conclusions The mutation 166.642.520G>A may be associated with Dravet syndrome and further studied should be performed to verify it and demonstrate its pathogenic mechanisms.
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Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.
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Objective To explore the inheritance characteristics of SCN1A gene in familial severe myoclome epilepsy in infancy.Methods The clinical information and blood of the patients and their relatives who had febrile seizure(FS)or epilepsy history were collected.Blood genome DNA were extracted.All exons of SeN1A gene were PCR amplified and screened with denaturing high Performance liquid chromatography(DHPLC)technology,and sequence analysis was performed.Results Fourteen SME patients had FS or epilepsy family history.Five were found positive history in first class relatives and 2 of them had inherited mutations of SCN1A(C.4284+2T>C and e.1216G>T):Other9 were found positive history in second class relatives and 2 of them had de novo mutations of SCN1A.Condusions SCN1A is the pathogenic gene for SME.The same muatation of SCN1A gene can be related to different clinical phenotypes.SME patients whose first class relatives with FS or epilepsy history should be taken as the focus of SCN1A inherited mutation screening.
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<p><b>OBJECTIVE</b>To construct the recombinant plasmid containing human microdystrophin cDNA, and study the microdystrophin expression in vivo and in vitro.</p><p><b>METHODS</b>Microdystrophin cDNA was obtained from recombinant plasmid pBSK-MICRO digested with restrictive endonuclease Not I, the product was inserted into plasmid pVAX1, resulting in pAMICDYS. And then 3T3 cells were transfected with pAMICDYS. Forty-eight hours after transfection, the expression of the microdystrophin was detected by reverse transcription-polymerase chain reaction (RT-PCR) and immunocytochemistry. Finally, TA muscles of mdx mice were injected with the recombinant plasmid pAMICDYS through i.m. and the pathological change of TA was evaluated by histology, and the expression of microdystrophin in mdx TA was detected by immunohistochemical analysis.</p><p><b>RESULTS</b>The recombinant plasmid containing human microdystrophin cDNA was constructed successfully. The recombinant plasmid was proved to be able to express microdystrophin protein both in vivo and in vitro. Moreover, treatment of the TA of mdx mice with the recombinant plasmid could decrease the number of centrally nucleated myofibers.</p><p><b>CONCLUSION</b>Recombinant plasmid containing the microdystrophin gene was constructed successfully, and it could express microdystrophin protein both in vivo and in vitro. It provides basis for further study on microdystrophin as a target gene to treat Duchenne muscular dystrophy (DMD) by electrotransfer, i.v, arterial injection and combining with other exogenous gene to enhance microdystrophin expression.</p>
Subject(s)
Animals , Humans , Mice , Cloning, Molecular , DNA Restriction Enzymes , Metabolism , DNA, Complementary , Genetics , Metabolism , DNA, Recombinant , Genetics , Metabolism , Dystrophin , Genetics , Gene Expression , Genetic Engineering , Genetic Therapy , Genetic Vectors , Metabolism , Immunohistochemistry , Muscular Dystrophy, Duchenne , Genetics , Metabolism , Therapeutics , NIH 3T3 Cells , Plasmids , Genetics , Reverse Transcriptase Polymerase Chain Reaction , TransfectionABSTRACT
Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.
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Protein transduction is an emerging technique in biological fields in recent years. Through the medium of protein transduction domain(PTD) composed by a small number of alkaline peptides, the functional proteins linked covalently with DNA, peptides, proteins or other macromolecules can across the membranes of mammalian cells, even the blood-brain barrier and transfer unconventionally that isn't like classical pathway. The distinct property of PTD that can take along fused protein entering into cells unconventionally offers a new vehicle to gene therapy for some diseases and has dulcet applied perspective.
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Objective To observe the characteristics and onset time of seizures caused by kindling of bilateral amygdale, and to discuss its mechanism.Methods 40 adult Wistar rats were randomly assigned into bilateral amygdala kindling group and unilateral amygdala kindling group. The models were made according to Goddard's method. Results All the rats in bilateral amygdala kindling group developed stage Ⅴ convulsions after a mean of 20.9 stimulations.12 rats of which showed spontaneous seizure discharges. But in unilateral amygdala kindling group, the successful kindling rate was 60% after a mean of 8.9 stimulations. Comparing with unilateral kindling, bilateral amygdala kindling significantly increased the successful rate of kindling (P