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OBJECTIVE@#To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.@*METHODS@#Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals.@*RESULTS@#The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls.@*CONCLUSION@#X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
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Female , Humans , Male , Adrenoleukodystrophy/genetics , Asian People/genetics , China , Genetic Testing , Mutation , PedigreeABSTRACT
Objective:To study the expression of DcR3 of myocardial tissue in diabetic mouse and normal rats and the impact of DcR3 recombinant protein to the expression of related molecules and myocardial cell apoptosis to discuss the action of DcR3 to myocardial cell apoptosis in Diabetic rats.Methods:Intraperitoneally injected streptozotocin one time to establish the model of Diabetic rats.Injected different doses of DcR3 recombinant protein to tail vein[1.2 mg/(rat? d),0.8 mg/(rat? d),0.4 mg/(rat? d)] 40 d. The expression of DcR3 mRNA, Fas mRNA and FasL mRNA of myocardial tissue was detected with RT-PCR;the expression of apoptosis related molecules Bcl-2 and Caspase-8 was analyzed with Western blot;the IL-1β, TNF-αand LFN-γof the blood was detected with double antibody sandwich ELISA;the percentage of myocardial cell apoptosis was observed with HE dyeing.Results:To compare the DcR3 treatment group with diabetic group,the expression DcR3 of myocardial tissue was high,the expression of Fas mRNA and FasL mRNA was descended.The Caspase-8 protein was ascended and the Bcl-2 protein was descended.The middle dose group was the most obvious.the IL-1β,TNF-αand IFN-γin the blood was descended differently in each DcR3 treatment group(P<0.05,P<0.01).The percentage of myocardial cell apoptosis was declined(P<0.05).Conclusion:DcR3 recombinant protein have the action of inhibiting the rats′myocardial cell apoptosis,the mechanism is related to competing with Fas,blocking-up FasL of inducing apoptosis, expressing DcR3 of myocardial cell,the descending of apoptosis related factors Caspase-8,the ascending of Bcl-2 and the reduction of cytokine levels.
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Objective To explore the relationship between blood pressure and hemorrhagic cerebral infarction. Methods Retrospectively reviewed clinical data of 242 patients with acute cerebral infarction, then all patients with hemorrhagic cerebral infarction were selected. The distributions of different level of blood pressure (＞180/110mm Hg;90/70～180/110mm Hg;＜90/70mm Hg) were compared between the patients with or without hemorrhagic cerebral infarction, as the same, different prognosis were compared among the patients with hemorrhagic cerebral infarction based on the different level of blood pressure. Results Of the total patients with acute cerebral infarction,4. 1%(10) presented with blood pressure＜90/70mm Hg,88. 0%(213) with blood pressure 90/70～180/110mm Hg and 7.9%(19) with blood pressure＞180/110mm Hg. In all the patients,20 cases(8. 3%) with hemorrhagic cerebral infarction,among which,60.0%(12) patients with blood pressure＞180/110mm Hg and with 7 cases died, 10.0%(2) patients with blood pressure＜90/70mm Hg and with 1 case died,30.0%(6) patients with blood pressure 90/70～180/110mm Hg and with 2 cases died. The distribution of patients with blood pressure＞180/110mm Hg in those two type of cerebral infraction were statistically significant (P=0. 000) ,the ratio seemed higher in patients with hemorrhagic cerebral infarction, and among the patients with hemorrhagic cerebral infarction, the distribution of prognosis were the same statistically significant based on the diffetent level of blood pressure, among which, patients with blood pressure＞180/110mm Hg(P =0.041) or＜90/70mm Hg(P =0.037) seemed like to have a higher mortality. Conclusion Severe high blood pressure(＞180/110mm Hg) should be one of the high risk factors for patients with hemorrhagic cerebral infarction,when blood pressure＞180/110 mm Hg or ＜90/70mm Hg happened in the pathogenesis, patients always be with poor outcome. So, making proper control strategy of blood pressure for patients with hemorrhagic cerebral infarction was with significance to defend its' happening and prognosis' improvement.
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Objective To explore the early diagnosis of lower extremity deep venous thrombosis (LDVT)and evaluate the therapeutic effect of anticoagulant therapy in hospitalized patients with acute ischemic stroke. Methods According to Wells model for suspecting lower extremity deep venous thrombosis,patients with suspected LDVT were confirmed by compression ultrasonography. If the patients diagnosed with LDVT had no contraindications to anticoagulant therapy,they were treated with low molecular weight heparin(LMWH)subcutaneous injection and oral warfarin at the same time.The dosage of oral warfarin was determined by Roberts'age adjusted warfarin loading protocol.LMWH was stopped when the patients'international normalized ratio(INR)was 2.0～3.0 for two consecutive days. Results From January 2003 to August 2007,2067 cases with acute ischemic stroke were admitted to the department of neurology in Huizhou Municipal Central Hospital including 18 cases with LDVT and the incidence was 0.9%.The patients with LDVT all had paralytic extremities including 13 left legs and 5 right legs with deep vein thrombosis.All the 18 cases were treated by anticoagulant including 17 cases with oral warfarin treatment for 3 months.Symptoms in all LDVT patients were eliminated.12 cases had been observed for one year and 5 cases for three months after they stopped taking warfatin.There were no patients with pulmonary thromboembolism and LDVT recurrence. Conclusions By using Wells model for suspecting LDVT,patients with acute ischemic stroke-complicated LDVT can be timely diagnosed.The goal of prompt and enough anticoagulant can be achieved according to Roberts'age adjusted warfarin loading protocol.Because of racial difference,population difference and other unknown factors,the incidence of acute ischemic stroke patients with complicated LDVT is much lower in Huizhou.It suggests that it should be unnecessary to use LMWH in patients with acute ischemic stroke to prevent LDVT in Huizhou.
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Objective:To study the effects of Anti-DR5 mAb on inducing synovial cells of adjuvant arthritis (AA) rats and its mechanisms.Methods:AA was induced by CFA in rats.The synovial cells of rats were separated and cultured in vitro system.The apoptosis induced by anti-DR5 mAb on synovial cells was measured by MTT analysis,DNA fragmentation and flow cytometry.Caspase-3 and Bcl-2 expression in synovial cells were detected by Western blot.The involvement of the apoptotic pathway was further proved by a caspase inhibition assay.Results:MTT result showed that Anti-DR5 mAb could inhibit synovial cells growth.And flow cytometry suggested that the cell death mode was apoptosis.The protein level of caspase-3 in synovial cells treated with anti-DR5 mAb was raised,while Bcl-2 level declined.When the caspase inhibitor was added to the synovial cells treated with anti-DR5 mAb,it was showed in a dose-dependence inhibition effect,indicating that anti-DR5 mAb inducing apoptosis might be through the caspase pathway.Conclusion:Anti-DR5 mAb could induce synovial cell apoptosis through caspase pathway.And this effect may be related to the protein level of Caspase-3 and Bcl-2.