Aneurysm, Dissecting/surgery* ; Aorta, Thoracic/surgery* ; Aortic Aneurysm, Thoracic/surgery* ; Blood Vessel Prosthesis Implantation ; Humans ; Treatment Outcome ; Vascular Surgical Procedures

OBJECTIVETo screen and identify differentially expressed genes between a fertile patient and another infertile patient who belonged to a large Chinese pedigree affected with androgen insensitivity syndrome (AIS).

METHODSWe constructed the forward and reversed subtracted libraries using genital skin fibroblasts (GSF), which were obtained from the fertile patient MJ and infertile patient ZGJ, as tester respectively. Candidate clones were screened with colony in situ hybridization, dot blot, and Southern blot analysis step by step and conformed with Northern blot analysis. The potential positive clones were sequenced and the homology of the sequences was analyzed.

RESULTSThe forward and reversed subtracted libraries containing differentially expressed pattern of two GSF cell lines were constructed. Two positive clones identified by Northern blot were obtained in the reversed subtracted library. Eleven candidate clones from the two libraries that failed to hybridize with both RNA populations were obtained simultaneously, which might represent differentially expressed low abundance transcripts. Sequencing results and homology analysis demonstrated that the two positive clones were significantly homologous with the genes of autotaxin-t and calcium binding protein calcyclin (S100A6), respectively.

CONCLUSIONSTwo positive clones and eleven clones showing no hybridization signals may represent differentially expressed genes between the two GSFs. This finding may be useful to elucidate the molecular mechanisms leading to phenotypic variation and preserved fertility of the AIS pedigree.

Androgen-Insensitivity Syndrome ; complications ; genetics ; Blotting, Northern ; Fertility ; genetics ; Fibroblasts ; cytology ; Gene Expression Profiling ; Gene Library ; Genitalia, Male ; cytology ; Humans ; In Vitro Techniques ; Infertility, Male ; etiology ; genetics ; Male ; Nucleic Acid Hybridization ; methods ; Pedigree ; Polymerase Chain Reaction ; Skin ; cytology

Objective To analyze the clinical and imaging features of a family(3 patients)with familial hemangioblastoma,and their diagnosis and prognosis.Methods The detailed data about clinical and imaging features of all patients diagnosed as familial hemangioblastoma,admitted to our hospital from October 2004 to May 2010,were analyzed,and the lesions of other regions,besides the tumor lesion,were observed.Results No lesions of other regions were noted in these 3 patients.Cranial MRI showed that 2 had cystic and solid tumor and 1 had solid tumor;,total removal was performed on these patients under microscope; regular follow-up was given and no recurrence was noted.Conclusion Familiar hemangioblastoma is serious hereditary disease; and MRI is the most important detective method; microsurgical operation is the most important therapy.Early diagnosis and treatment should be given to the patients with familiar hemangioblastoma due to its high recunence rate,having difficulty in operation and its trend to combining with other lesions of the other parts.

OBJECTIVE: To discuss the clinical efficacy and safety of balloon-expandable stent in the treatment of symptomatic atherosclerotic cerebral artery stenosis in the middle cerebral artery(MCA), and to assess the appropriate methods of postoperative follow-up auxiliary examination. METHODS: A total of 67 patients with symptomatic atherosclerotic cerebral artery stenosis in the MCA were treated with balloon-expandable stent. The clinical data and follow-up data were collected and then analyzed retrospectively.RESULTS: the success rate of the surgical treatment with balloon-expandable stent was 98.51%(66/67). The incidence of symptomatic perioperative complications was 4.48%(3/67). All patients received clinical follow-up, and the auxiliary examination methods of the internal condition lesion of the stent included transcranial Doppler(TCD) or digital subtraction angiography(DSA). The incidence of in-stent restenosis or occlusion was 8.96%(6/67), and the consistency rate of stent restenosis or occlusion between TCD and DSA was75.00%, and the incidence of symptomatic in-stent restenosis or occlusion was 2.99%(2/67). It was found that there were two patients with recurrent stroke in cerebrovascular stent related region but without in-stent restenosis, and within 1 year of follow-up, the incidence of symptomatic stroke in stent-associated areas after operation was 10.44%(7/67). CONCLUSION: The treatment with balloonexpandable stent for symptomatic MCA stenosis has good clinical effect. The incidence of perioperative complications is low and the incidence of stroke in stent-associated areas after operation is low. TCD is an effective way of follow-up after the arterial stenting in the brain, which can play a role in the early detection of the in-stent restenosis, and its consistency with DSA is high.