Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease / 中华医学遗传学杂志

OBJECTIVE@#To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function.@*METHODS@#Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing. Suspected variant was verified by Sanger sequencing. A series of molecular methods including PCR amplification, restriction enzyme digestion, ligation and transformation were also used to construct wild-type and mutant eukaryotic expression vectors of the PKD2 gene, which were transfected into HEK293T and HeLa cells for the observation of protein expression and cell localization.@*RESULTS@#The proband was found to harbor a c.2051dupA (p. Tyr684Ter) frame shift mutation of the PKD2 gene, which caused repeat of the 2051st nucleotide of its cDNA sequence and a truncated protein. Immunofluorescence experiment showed that the localization of the mutant protein within the cell was altered compared with the wild-type, which may be due to deletion of the C-terminus of the PKD2 gene.@*CONCLUSION@#The c.2051dupA (p. Tyr684Ter) mutation of the PKD2 gene probably underlay the pathogenesis of ADPKD in this pedigree.

Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).@*METHODS@#Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls.@*RESULTS@#The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases.@*CONCLUSION@#The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.

Analysis of gene variant in a Chinese pedigree with preaxial polydactyly / 中华医学遗传学杂志

OBJECTIVE@#To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.@*METHODS@#The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.@*RESULTS@#The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).@*CONCLUSION@#The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.

Comparison of conservative treatment and full thread hollow screw for treatment of Ekrol 2 fracture of the fifth metatarsal bone / 中华骨科杂志

Objective To compare the curative effect of conservative treatment and full thread hollow screw in the treatment of Ekrol 2 fracture of the fifth metatarsal bone.Methods From April 2013 to May 2015,42 patients with avulsion fractures of the fifth metatarsal basement of type 2 fractures in Ekrol division were treated in our hospital.23 patients underwent full thread hollow screw surgery (surgical treatment group),and there were 12 males and 11 females,with an average age of 43.4±9.2 years,and the fracture displacement length was 2.3±0.2 mm.19 patients treated with plaster fixation (conservative group),including 10 males and 9 females,with an average age of 45.7±8.9 years and fracture displacement length was 2.1±0.2 mm.During follow-up,X -ray examination was performed to evaluate the time of fracture healing and forefoot score of American Orthopaedic Foot and Ankle Society (AOFAS),visual analogue score (VAS) and quality of life questionnaire (SF-36) were compared between the two groups.Results All 42 patients were followed up for 12 to 24 months with an average of 18 months.At the latest follow-up,the fracture healing time of the surgical group was 9.3±2.0 weeks,with AOFAS score of 84.1±3.9,VAS score of 0.1±0.2,and the SF-36 score of 95.1±2.9 points,and the shortening of length after treatment was 2.1±2.5 mm;the average healing time of the conservative treatment group was 12.2±2.1 weeks,with the average AOFAS score of 84.2±4.2 points,and the average VAS score of 0.2±0.2 points,the average SF-36 score of 94.1 ±5.2 points,and the shortening of length after treatment was 0.4±2.5 mm.The results of each short-term score and the shortening of the length of the fracture after treatment was statistically significant.The results of the mid-and long-term scores showed no significant difference between the two groups;the fractures of both groups reached bone healing.3 cases of sural nerve stimulation occurred in the operation group,while 1 case occurred in the conservative group.Abnormal healing occurred in 2 cases of conservative treatment,and the fractures of the surgical treatment group were anatomic reduced.Conclusion Usingfull thread hollow screwfor the treatment of Ekrol 2 fracture of the fifth metatarsal bone is better than the conservative treatment in the short term,but there is no significant difference in the long-term effect.

Expression and significance of cathepsin B after acute spinal cord injury / 中国矫形外科杂志

[Objective]To study the expression of Cathepsin B,Caspase-3 and to explore the significance of their expression initially after acute spinal cord injury in rats.[Method]The spinal cord injury of the healthy adult SD rats (78) was induced with Nystrom’s way by the moderate compression at the level of T8 and T9 spinal cord. HE methods were used to detect the pathologic change of spinal cord. The expression of Cathepsin B and Caspase-3 were detected by immunohistochemical study. Besides,using the terminal deoxynucleotidyl transferase mediated DUTP nick and labeling (TUNEL) methods to detect the level of the apoptosis of neural cells.[Result]There were few expressions of Cathepsin B, Caspase-3 and TUNEL positive cells in normal and sham operated spinal cord as detected by immunohistochemical study. The number of positive cells of Cathepsin B increased clearly at 3 days,reached a peak at 5 days,and was constant at 7 days after injury. While the expression of Caspase-3 increased obviously at 8 hours,got to a peak at 3 days,and was lowest at 7 days. And the number of positive cells of TUNEL also increased obviously at 8 hours,got to a peak at 3 days,and was lowest at 7 days. There were significance differences of morphological and position of positive cells between Cathepsin B and Caspase-3 or Tunel. [Conclusion]Caspase-3 protein expressions are enhanced in combination with neuronal apoptosis,while Cathepsin B may involve in the secondary injury by inflammatory cells after acute spinal cord injury.

Anterior approach for treatment of thoracolumbar burst fractures by decompression and bone graft / 中国矫形外科杂志

[Objective]To discuss the clinical effect of the anterior approach for the treatment of thoracolumbar burst fractures by decompression and bone graft.[Method]A total of 34 patients underwent anterior approach for the treatment of thoracolumbar burst fractures were retrospectively analyzed from September 2003 to September 2005.According to the Denis classification system,there were 6 type A,16 type B,6 type C,4 type D,and 2 type E.Preoperative and postoperative neurologic changes,spinal canal decompression,segmental angulation,and arthrodesis rate were evaluated.[Result]The average preoperative canal compressopm decreased from 66.5% to 2.0%.Mean preoperative segmental kyphosis improved from 22.10? to 2.30?.There was neurologic deterioration.Twenty-six(86.7%) of 30 patients with neurologic deficits had an improvement by at least one modified Frankel grade.All patients went on to apparently stable arthrodesis.[Conclusion]Types of anterior spinal instrumentation and reconstruction techniques allow direct anterior decompression of neural elements,improvement in segmental angulation,and acceptable rates of arthrodesis without the need for supplemental posterior instrumentation.