ABSTRACT
OBJECTIVE@#To explore the genetic basis of a pedigree affected with hereditary spherocytosis.@*METHODS@#Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2(c.5798+1G) and pCAS2(c.5798+1A) plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.@*RESULTS@#The proband was found to carry a c.5798+1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.@*CONCLUSION@#The novel c.5798+1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.
Subject(s)
Humans , Codon, Nonsense , Genetics , Genetic Variation , HEK293 Cells , Mutation , Genetics , Pedigree , Plasmids , RNA Splicing , Spectrin , Genetics , Spherocytosis, Hereditary , Genetics , TransfectionABSTRACT
Objective@#To explore the genetic basis of a pedigree affected with hereditary spherocytosis.@*Methods@#Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2c.5798+ 1G and pCAS2c.5798+ 1A plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.@*Results@#The proband was found to carry a c. 5798+ 1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.@*Conclusion@#The novel c. 5798+ 1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.
ABSTRACT
Objective To observe the clinical effect of combining extracorporeal shock waves with pulsed radiofrequency irradiation of the dorsal root ganglia in the treatment of spinal cord-derived abdominal pain. Methods A total of 88 patients were randomly divided into a control group, a shock wave group, a pulsed irradiation group and a combination group, each of 22. All of the patients were given etocoxib and pregabalin medication for 3 weeks. In ad-dition to the drugs, the shock wave group received extracorporeal shock wave therapy, and the irradiation group re-ceived pulsed radio frequency irradiation of the dorsal root ganglia. The combination group received both. A visual an-alogue scale was used to assess perceived pain. The quality of life short form 36 ( QOL-SF36) , Hamilton anxiety scale and Hamilton depression scale were administered to all 4 groups before the treatments and after 1, 4 and 12 weeks of the treatments. The development of diseases, gastrointestinal function, medical treatment and medical expenses of the 4 groups were observed for two years after the treatments. Results After 4 weeks of treatment, the average scores of all four groups in all of the evaluations had improved significantly compared with before the treatment. In combination group′s average results were significantly better than those of the other 3 groups from 4 weeks until 12 weeks after the treatment. During the subsequent two years that group′s gastrointestinal symptoms, hospital visits and medical expen-ses were all significantly lower, on average, than those of the other groups. Conclusion Extracorporeal shock waves combined with pulsed radio frequency irradiation of the dorsal root ganglia has significant clinical efficacy for alleviating spinal cord-derived abdominal pain. It can significantly reduce medical costs and is worthy of clinical pro-motion.
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Objective To investigate the relation of autophagy and postherpetic neuralgia in elderly patients,and provide new methods for prevention and treatment of postherpetic neuralgia.Methods One hundred thirty-five specimens were obtained from elderly patients with herpes zoster,containing 83 patients with herpes zoster plus neuralgia and 52 cases with non-neuralgia herpes zoster.The level of autophagy was determined by acridine orange-stain.The protein expressions of autophagy marker protein LC3 and autophagy related protein Beclinl were detected by Western blot.Results Flow cytometer detection after acridine orange-stain showed that mean fluorescence intensity (MFI) of herpes zoster plus neuralgia patients was 0.775±0.068 and non-neuralgia herpes zoster patients was 0.342±0.025.The level of autophagy of non-neuralgia herpes zoster patients was significant lower than herpes zoster plus neuralgia patients (P＜0.05).The expressions of autophagy marker protein LC3 and autophagy related protein Beclin1 detected by Western blot also showed the level of autophagy of non-neuralgia herpes zoster patients was decreased compared with herpes zoster plus neuralgia patients.Conclusions High level autophagy is risk factor for postherpetic neuralgia in elderly patients.
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OBJECTIVE:To observe therapeutic efficacy of zoledronic acid in the treatment of acute pain of vertebral compres-sion fractures during different courses. METHODS:207 patients with acute thoracic or (and) lumbar vertebral compression frac-tures were selected and randomly divided into trial group(107 cases)and control group(100 cases). Control group was given calci-um carbonate(1 200 mg/d)diclofenac sodium sustained-released tablet(75 mg/d).Trial group was additionally given zoledronic ac-id 5 mg added into 5%Glucose solution 100 ml,intravenous dripping for 15-30 min,on the basis of control group. RESULTS:Af-ter treatment,VAS score of two group decreased significantly,and trial group the decrease was more significant than control group,with statistical significance (P0.05);after 4d treatment,there was statistical significance in VAS score between course≤one month and one month 0.05);after one week,there was statistical significance in VAS score between one month 2 months (P<0.05).CONCLUSIONS:Zoledronic acid may partly alleviate the pain of acute vertebral fractures,the analgesic effect is more clear in early stage.