Chinese medical journal
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Chinese medical journal · Feb 2010
Effects of single nucleotide polymorphisms 869 T/C and 915 G/C in the exon 1 locus of transforming growth factor-beta1 gene on chronic obstructive pulmonary disease susceptibility in Chinese.
The main risk factor for chronic obstructive pulmonary disease (COPD) is cigarette smoking. However, only 10% - 20% of chronic heavy smokers develop systematic COPD. We hypothesized that the inheritance of gene polymorphisms could influence the development of COPD, which was investigated by studying two single nucleotide polymorphisms (SNP) in exon 1 of the transforming growth factor-beta1 (TGF-beta1) gene. ⋯ The polymorphism 869T/C in TGF-beta1 gene has a significant association with disease occurrence in COPD patients and the C allele might be a risk factor. The homozygous wild-type CC of 869T/C on TGFbeta1 could be a predisposing factor in COPD and those who carry the C allele might have particularly susceptibility to developing COPD.
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Chinese medical journal · Feb 2010
Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.
Hemophilia A (HA) is an X-linked inherited bleeding disorder caused by decreased activity of factor VIII (FVIII) due to heterogenous mutations in the FVIII coding gene (F8). The type of mutation plays an important role in the FVIII inhibitor formation. To date, several studies on the spectra of F8 defects have been performed in Western populations, but similar studies in Asian races are scarce. Here, we reported the distribution of the F8 gene mutations in 18 unrelated Chinese patients with HA. ⋯ These data extend our insight into the mechanisms by which novel amino acid mutations may lead to HA and how the HA patient genotypes influence the risk of FVIII inhibitor.
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Chinese medical journal · Feb 2010
Removal of vestibular schwannoma and facial nerve preservation using small suboccipital retrosigmoid craniotomy.
Vestibular schwannoma, the commonest form of intracranial schwannoma, arises from the Schwann cells investing the vestibular nerve. At present, the surgery for vestibular schwannoma remains one of the most complicated operations demanding for surgical skills in neurosurgery. And the trend of minimal invasion should also be the major influence on the management of patients with vestibular schwannomas. We summarized the microsurgical removal experience in a recent series of vestibular schwannomas and presented the operative technique and cranial nerve preservation in order to improve the rates of total tumor removal and facial nerve preservation. ⋯ The goal of every surgery should be the preservation of function of all cranial nerves. Using the retrosigmoid approach with small craniotomy is possible even for large schwannomas. Knowing the microanatomy of the cerebellopontine angle and internal auditory meatus, intraoperating neurophysiological monitoring of the facial nerve function, and the microsurgical techniques of the surgeons are all important factors for improving total tumor removal and preserving facial nerve function.
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Chinese medical journal · Feb 2010
Arthroscopic treatment for osteochondral lesions of the talus: analysis of outcome predictors.
Compared with traditional arthrotomy procedures, arthroscopic treatment for osteochondral lesions of the talus has some advantages. However, there has been considerable debate about the outcome predictors for this surgical technique. This study aimed to investigate the outcomes of arthroscopic treatment for osteochondral lesions of the talus, and analyze its outcome predictors. ⋯ Arthroscopic treatment is effective and safe for osteochondral lesions of the talus. A strong correlation was found between the size of the lesion and successful outcome.