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Objective To investigate the correlation of CAGs repeat size and age of onset in patients with Kennedy's Disease (KD).Methods We detected the number of CAG repeats in the androgen receptor genes in 30 patients with KD.The correlation of CAGs repeat size with age of onset was analyzed.At the same time,the Appel scale that could represent the degree of motor functional impairment was scored in every patient.The correlation of Appel scale with CAGs repeat size and the course of disease were analyzed.Results Significant correlation was found between the number of CAGs with age of onset (r= -0.671,P <0.01 ).There was also correlation between the Appel score and the course of disease (r=0.855,P<0.01 ),but no correlation between the Appel score and the number of CAGs (r =0.100,P =0.601 ).Conclusions It is found that in Kennedy' disease,as well as in other CAG repeat diseases,the length of polyglutamine tract determines the age of onset ,but has no correlation with the severity of the disease.
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OBJECTIVE: To investigate the clinical outcomes of artificial bone (hydroxyapatite) and bone cement implantation in treating young patients with avascular necrosis of the femoral head caused by different reasons. METHODS: A total of 18 patients (23 hips) with Ficat stage Ⅲ and Ⅱ avascular necrosis of the femoral head were treated with dead bone debridement, artificial bone and cement implantation in Department of Orthopedics, Third Affiliated Hospital of Guangxi Traditional Chinese Medical College from October 2003 to July 2008. The patients were followed up for 24.6 months (ranging 3 months to 5 years). The affected hip function was evaluated by modified Merled'Aubigne Scores and X-ray. RESULTS: Mean hip scores improved significantly from 11.65 to 15.09 after surgery. Postoperative radiographs demonstrated the improved collapse and restoration of femoral head sphericity. The femoral heads of most patients remained the appearance after surgery, and the necrosis range did not enlarge. The patients were satisfactory to the treatment results. CONCLUSION: Artificial bone and cement implantation could restore head sphericity and prevent further collapse. The method can be used as an alternative for treatment of avascular necrosis of femoral head at Ficat stage Ⅱ and Ⅲ, especially for young patients.
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Objective To analyze and determine the clinical, molecular pathology and genetic features of a Chinese family with dystrophinopathy. Methods Clinical data of the proband and his family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with antimerosin, emerin and the N, C and central rod domains of dystrophin. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes. Multiplex ligation-dependent probe amplification (MLPA) was used to test Duchenne muscular dystrophy (DMD) gene to determine the ways and sites of genetic mutation, and analyze the relationships between genotype and phenotype. Results Patients from this family were clinically diagnosed as muscular dystrophy, and they presented serious manifestations although the immunohistochemistry analysis for the proband exhibited partial loss of dystrophin staining, and positive expression with merosin and emerin. Further test with MLPA detected the loss of exons 45--54 in DMD gene in the proband, while his mother had heterozygositic loss in exons 45--54. Conclusions The losses of exons 45--54 in the proband are all derived from his mother, who carries genetic mutation with normal phenotype. He has been diagnosed as dystrophinopathy. At the same time, his partial loss of dystrophin is not parallel to the out-of-frame mutation of the gene and his severe clinical manifestations. Abnormal expression of dystrophin is the pathological basis for dystrophinopathy phenotype. Its clinical outcome depends not only on the degree of the protein expression, but also on the function of the sites where the DMD gene less occurs.
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Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD(DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.
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Objective Duchenne muscular dystrophy(DMD)is one of the most common X-linked recessive neuromuscular degeneration diseases.It is caused by genetic defects of dystropin gene with deletion,duplication,or point mutation that results in clinical muscle fatigue and dystrophy.Usually,gene deletion of one or a few exons of dystrophin accounts for about 55%～65% patients,duplication for about 5%～10% patients and point mutation for 25%.Most of hot-spot deletion mutation of DMD can be detected by multiplex PCR and the point mutation can be detected by PCR/sequencing analysis,however,it remains a challenge to detect duplication.The recently developed MLPA(multiplex ligation-dependent probe amplification)is an efficient procedure that can accurately analyze the copy number and deletion mutation of whole dystropin gene.Methods A validation for simultaneous detection of entire dystropin gene was performed with two reactions.Both of which detect 39 and half exons of dystrophin gene.Results Nine out of 15 patients with DMD were found to have deletion mutation in different exons of dystrophin gene.Among these 9 patients,7 were found having deletion previously with multiplex PCR for mutation of hot-spot by Peking Union Medical University.Two patients who had not been found deletion by multiplex PCR were shown to have rare deletion at exon 18 or 43 in this study.Conclusions MLPA provides a simple,rapid and accurate method of simultaneously detecting homozygous,heterozygous deletions and duplication mutation in two single reactions for all exons of dystrophin gene,which may be applied into clinical molecular analysis for DMD.
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[Objective]To investigate the clinical outcomes of treatment of intertrochanteric and subtrochanteric fractures of the femur with the improved proximal femoral nail(PFN).[Method]Between April,2002 to Mach 2005,a total of 81 cases of intertrochanteric and subtrocha nteric femoral fractures were treated with close reduction and the improved PFN.There are 45 males and 36 females,with an average age of 63.6(35 to 91).According to the Evans classification: there are 5 cases of type Ⅰ,10 cases of type Ⅱ,12 cases of type ⅢA,21 cases of type ⅢB,28 cases oftypel Ⅴ,5 cases of type against femoral peritrochanteric.[Result]Sixty-two cases were followed up for 12 to 47 months,averaged 28.6 months.Fracture union was obtained in all the patients.Of 62 cases,one case had according to Harris criterion 56 cases were excellent,(rate 90.3%) and 2 cases good(3.2%) excellent and good rate of the function of the hip joint was 93.5%.[Conclusion]The improved PFN is a useful device in the treatment of perit rochanteric fractures of the femur.It is relatively easy with less surgical trauma,it and also has the advantages of anti-rotation,stress-dispersing,rigid fixation and allowing early functional exercises.The complications can be avoided with improved operative technique.