Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders that primarily cause the degeneration in the cerebellum, spinal cord, and brainstem. We study the clinical characteristics, radiological features and gene mutation in Chinese families with SCAs.</p><p><b>METHODS</b>In this study, we investigated 10 SCAs Chinese families with SCA1, SCA3/Machado-Joseph disease (MJD), SCA7, SCA8. There were 27 people who were genetically diagnosed as SCA, of which 21 people showed clinical symptoms, and 6 people had no clinical phenotype that we called them presymptomatic patients. In addition, 3 people with cerebellar ataxia and cataracts were diagnosed according to the Harding diagnostic criteria but failed to be recognized as SCAs on genetic testing. Clinical characteristic analyses of each type of SCAs and radiological examinations were performed.</p><p><b>RESULTS</b>We found that SCA3/MJD was the most common subtype in Han population in China, and the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of cytosine-adenine-guanine (CAG) repeats; the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score; and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset.</p><p><b>CONCLUSIONS</b>Collectively our study is a systematic research on SCAs in China, which may help for the clinical diagnosis and prenatal screening of this disease, and it may also aid toward better understanding of this disease.</p>

Cryptosporidium suis Infection in Post-Weaned and Adult Pigs in Shaanxi Province, Northwestern China

Cryptosporidium spp., ubiquitous enteric parasitic protozoa of vertebrates, recently emerged as an important cause of economic loss and zoonosis. The present study aimed to determine the distribution and species of Cryptosporidium in post-weaned and adult pigs in Shaanxi province, northwestern China. A total of 1,337 fresh fecal samples of post-weaned and adult pigs were collected by sterile disposable gloves from 8 areas of Shaanxi province. The samples were examined by Sheather's sugar flotation technique and microscopy atx400 magnification for Cryptosporidium infection, and the species in positive samples was further identified by PCR amplification of the small subunit (SSU) rRNA gene. A total of 44 fecal samples were successfully amplified by the nested PCR of the partial SSU rRNA, with overall prevalence of 3.3%. The average prevalence of Cryptosporidium infection in each pig farms ranged from 0 to 14.4%. Species identification by sequencing of SSU rRNA gene revealed that 42 (3.1%) samples were Cryptosporidium suis and 2 (0.15%) were Cryptosporidium scrofarum. C. suis had the highest prevalence (7.5%) in growers and the lowest in breeding pigs (0.97%). C. suis was the predominant species in pre-weaned and adult pigs, while C. scrofarum infected pigs older than 3 months only. A season-related difference of C. suis was observed in this study, with the highest prevalence in autumn (5.5%) and the lowest (1.7%) in winter. The present study provided basic information for control of Cryptosporidium infection in pigs and assessment of zoonotic transmission of pigs in Shaanxi province, China.

Cryptosporidium suis Infection in Post-Weaned and Adult Pigs in Shaanxi Province, Northwestern China

Cryptosporidium spp., ubiquitous enteric parasitic protozoa of vertebrates, recently emerged as an important cause of economic loss and zoonosis. The present study aimed to determine the distribution and species of Cryptosporidium in post-weaned and adult pigs in Shaanxi province, northwestern China. A total of 1,337 fresh fecal samples of post-weaned and adult pigs were collected by sterile disposable gloves from 8 areas of Shaanxi province. The samples were examined by Sheather's sugar flotation technique and microscopy atx400 magnification for Cryptosporidium infection, and the species in positive samples was further identified by PCR amplification of the small subunit (SSU) rRNA gene. A total of 44 fecal samples were successfully amplified by the nested PCR of the partial SSU rRNA, with overall prevalence of 3.3%. The average prevalence of Cryptosporidium infection in each pig farms ranged from 0 to 14.4%. Species identification by sequencing of SSU rRNA gene revealed that 42 (3.1%) samples were Cryptosporidium suis and 2 (0.15%) were Cryptosporidium scrofarum. C. suis had the highest prevalence (7.5%) in growers and the lowest in breeding pigs (0.97%). C. suis was the predominant species in pre-weaned and adult pigs, while C. scrofarum infected pigs older than 3 months only. A season-related difference of C. suis was observed in this study, with the highest prevalence in autumn (5.5%) and the lowest (1.7%) in winter. The present study provided basic information for control of Cryptosporidium infection in pigs and assessment of zoonotic transmission of pigs in Shaanxi province, China.

Ilizarov technique for correcting flexion deformity of the knee of arthrogryposis multiplex congenita / 中华外科杂志

<p><b>OBJECTIVE</b>To study the methods and effects of Ilizarov distraction technique in treating the flexion deformity of the knee of arthrogryposis multiplex congenita.</p><p><b>METHODS</b>Between August 1998 and February 2003, 6 patients (10 knees) with the arthrogryposis multiplex congenita were treated, 4 patients in double knees, 5 males, 1 female, mean age 8 years and 2 months, ranged from 3 years and 7 months to 13 years. The preoperative flexion degree was averagely 51 degrees. The patients accompanied 13 other parts malformation of limbs. The modified Ilizarov distraction apparatus of the knee was used. While installing the apparatus in the operation, the knees should be kept in the of location of maximum extension, the center of joint hinges on the apparatus should be placed towards the rotatory center of the knee, two groups of 2 mm K-wires were passed through the femur and tibia around the knee, who were fixed on the proximal and distal rings. Distraction was started after the surgical procedure 5 days via rotating the threaded rods at the posterior of the knee, at an average of 2 to 3 mm per day, at the first week, after 2 weeks with the rate modified to 2 mm per day, up to the knee extended to 0 degrees. The accompanied deformities of the hip and/or the foot might be corrected at the same time or next time. The average duration of the distraction was 37 days (23-48 days). During the correction all limbs might undergo weight. After 2 weeks at the end of distraction the fixator was removed and the patients could walk by a long-leg brace.</p><p><b>RESULTS</b>Ten knees with the flexion contracture were sufficiently corrected without severe complications. Nine knees of all were followed up at an average time of 1 years and 3 mouths, no recurrence of the deformity was seen in all patients, their function of walk was significantly improved.</p><p><b>CONCLUSIONS</b>Ilizarov technique is a simply, safe and effective method for managing the flexion deformity of the knee of the arthrogryposis multiplex congentia. The procedure is conformable to the biological theories and microsurgical principles.</p>

The design and application of synchronized springy lengthening apparatus for the tibia and tendo calcaneus / 中华外科杂志

<p><b>OBJECTIVE</b>To study the role of the synchronized springy lengthening apparatus for the tibia and calcaneal tendon designed by the author in preventing the clubfoot of secondary to the Ilizarov tibia lengthening.</p><p><b>METHODS</b>Based on the Ilizarov tibia lengthening apparatus, a special synchronized springy lengthening apparatus for the tibia and calcaneal tendon was designed. The tibial was made of distal and proximal 2 rings respectively and 4 threaded rods, and the calcaneal was made of a half ring, 2 hinges and a threaded rod with spring. The half ring was fixed to the calcaneus by 2 crossed wires. The fracture tibia and fibula, ankle joint, talocalcaneal joint were attached to the apparatus. At the same time of tibia lengthening, the soft tissue was simultaneously stretched, the ankle joint could move, and the leg could bear weight. If the clubfoot angle was larger, the percutaneous fasciotomy of calcaneal tendon was performed; if the angle was less than 20 degrees, the pes deformities were corrected only by the stretch of calcaneal tendon.</p><p><b>RESULTS</b>Seventy-seven patients' tibia were lengthened averagely 4.6 cm, with an average speed of 0.7 mm/d. The healing made tibia lengthened, and the index was 1.35 months/cm. There were not the secondary varus and valgus deformities and clubfoot in all the patients. The clubfoot with 100-400 angle of the 16 patients were corrected after tibia lengthening.</p><p><b>CONCLUSIONS</b>The new apparatus coincides with the biomechanical principle and can effectively prevent the secondary deformities of foot such as clubfoot, talipes varus and valgus after tibia lengthening procedure.</p>

Effect of different sex hormones on testicular descent and their relation to expression of INSL3 mRNA in rats / 中华内分泌代谢杂志

Objective To observe the effects of estradiol benzoate (E_2),human cberionic gonadotropin (hCG) and luteinizing hormone-releasing hormone (LHRH) on testicular descent and their relation to the expression of insulin-like factor-3 (INSL3) mBNA in rats.Methods At birth,40 SD male rats were assigned to 4 groups,and each group consisted of 10 rats.Each group received injection of one of the following drugs:normal saline(NS),E_3,hCG+E_2,and LHRH+E_2 for 29 clays after birth.Total RNA was extracted from the testis on day 30 after birth.INSL3 was synthesized and further amplified by RT-PCR.Results (1) Testicular descent rate on clay 30 after birth was 100% (20/20) in the group of NS,0% (0/20) in the group of E_2,85% (17/20) of hCG + E_2,and 70% (14/20) of LHBH + E_2.There was no significant difference between the last two groups ( P = 0.45).(2) Weight of testis differed significantly among the groups ( F = 56.67,P＜0.01 ),being lightest in the group of E_2.(3) E_2 could damage the germ cells of testis,however hCG and LHRH ameliorated this situation. (4) The expression of INSL3 mBNA was absent in the group of E_2,while the other groups showed normal expression.Conclusion E_2 inhibits testicular descent in rats,while hCG and LHRH promote the progress.The mechanism seems to be related to the expression of INSL3 mRNA.