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Shigeru Takasaki 《遗传学报》2009,36(7):425-434
The relationships between five classes of Japanese people (i.e., 96 centenarians, 96 Alzheimer's disease (AD) patients, 96 Parkinson's disease (PD) patients, 96 type 2 diabetic (T2D) patients, and 96 healthy non-obese young males) and their mitochondrial single nucleotide polymorphism (mtSNP) frequencies at individual mtDNA positions of the entire mitochondrial genome were examined using the radial basis function (RBF) network and the modified method. New findings of mitochondrial haplogroups were obtained for individual classes. The five classes of people were associated with the following haplogroups: Japanese centenarians-M7b2, D4b2a, and B5b; Japanese AD patients-G2a, B4cl, and N9b1; Japanese PD patients-M7b2, B4e, and B5b; Japanese T2D patients-B5b, M8al, G, D4, and F1; and Japanese healthy non-obese young males-D4g and D4b1b. From the points of common haplogroups among the five classes, the cente- narians have the common haplogroups M7b2 and B5b with the PD patients and common haplogroup B5b with the T2D patients. In addition, the 112 Japanese semi-supercentenarians (over 105 years old) recently reported were also examined by the method proposed. The results obtained were the haplogroups D4a, B4c1a, M7b2, F1, M1, and B5b. These results are different from the previously reported haplogroup classifications. As the proposed analysis method can predict a person's mtSNP constitution and the probabilities of becoming a centenarian, AD patient, PD patient, or T2D patient, it may be useful in initial diagnosis of various diseases. 相似文献
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djuvant chemotherapy for o 《菌物学报》2006,(3)
1%,26.6% and 27.7% respectively.there was no significant discrepancy(P>0.05).The 5-year survival in 3 or 4 cycles patients were 26.7% and the 5-year survival in 5 or 6 cycles patients were 28.9% .there was no significant discrepancy(P>0.05).Conclusion:Postoperative adjuvant chemotherapy with platinum-based regimen for 3 or 4 cycles can improve survival rate for stage Ⅲ NSCLC patients.Non-small-cell lung cancer; Surgery; Adjuvant chemotherapy; Survival rate0临床肿瘤学杂志Chinese Clinical Oncology19-21R734.2E0724E;E072_4潘泓;173-175长春瑞滨联合卡铂治疗老年晚期非小细胞肺癌胡兴胜;张湘茹;储大同; 中国医学科学院 相似文献
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Blood transfusion is frequently used in tumor patients, However, allogeneic blood transfusion have been claimed to be associated with an increased risk of negative outcomes, including transfusion reactions, fever, virus transmission, and alloimmunization. Other risks of homologous transfusion specific to the tumor patients are the potential deleterious effects on the recurrence of tumor and indefinite overall survival. On the contrary, autologous blood transfusion offers survival advantages to tumor patients and has been shown to minimize the occurrence of many detrimental allogeneic blood associated effects and complications. It also reduces the volume of banked blood needed and improves the prognosis of patients. However, the quality of salvaged blood is still a matter of debate, because it may contain tumor cells which are associated with potential detrimental effects such as metastasis. So, an advanced technology is needed to remove such contaminants to make autologous blood transfusion safer. 相似文献
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Ferdane Kutlar Jose M. Gonzalez-Redondo Abdullah Kutlar Aytemiz Gurgey Çigdem Altay Georgi D. Efremov Klara Kleman Titus H. J. Huisman 《Human genetics》1989,82(2):179-186
Summary Details are given of a study of blood samples from 24 patients with Hb H disease from different Mediterranean countries and from the Far East. Four different types of -thal-1 (--) were observed, namely-() ( 20.5-kb deletion);--MED-I ( 17.5-kb deletion);--MED-II (>26.5-kb deletion); and--SEA ( 18-kb deletion, in Orientals only). The -thal-2 was mainly of the deletion type (16 with the 3.7-kb deletion; 1 with the 4.2-kb deletion), while 4 of the 7 patients with a nondeletional type had the five-nucleotide deletion at the donor splice site of the first intron of the 2 gene. All patients had a mild-to-moderate hemolytic anemia; no significant differences in hematology were observed between the groups. Hb A2 was decreased to about one-third of the normal level. The Hb H formation varied considerably and its quantitation was not always satisfactory. Patients with Hb H disease due to any -thal-1 combined with a nondeletional -thal-2 had the highest Hb H levels and a more marked anemia. The chain production was small and absent in patients with the MED-II type of -thal-1 because this deletion included the and genes. The highest chain levels were present in the four patients with the SEA type of -thal-1. The chain production was increased, particularly in patients with a mutation of C T at position-158 to the G globin gene. This chain was primarily present as Hb Bart's (or 4) and only about 15% was recovered as Hb F or 22. The evaluation of the rate of chains produced in these patients was greatly facilitated by data from one patient who had Hb H disease and a heterozygosity for the A-+. The low levels of Hb A2 and of Hb F (relative to Hb Bart's) can be explained by a decreased affinity of chains for and chains as compared with chains in conditions of severe chain deficiency. 相似文献
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Epithermal instrumental neutron activation analysis (EINAA) has been used to determine the iodine content of many individual
food materials that constitute the typical Libyan diet. The selected samples include different varieties of local and imported
foods such as wheat and barley products, rice, bread, legumes such as chick peas and lentil, table salt, and commonly used
spices, including thyme and fenugreek. Both conventional and anticoincidence γ-ray spectrometry techniques have been employed.
Epithermal INAA in conjunction with anticoincidence counting has been found to provide the most reliable results. For quality
control purposes, a number of NIST biological reference materials were analyzed. The range of daily dietary intake has been
calculated as 100–180 μg of iodine per day, which is within the recommended range. Bread was identified as a significant source
of iodine in the Libyan diet, as it contributed 99 μg/d. 相似文献
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A. Erel E. Özsoy G. Biberoğlu A. Bilgihan A. Hasanoğlu M.Ö. Yis C. Atahan Ş. Oruk 《Biological trace element research》2003,95(2):97-105
Behçet’s disease is a multisystemic disease characterized by activation and remission periods. The etiopathogenesis is not exactly known; a genetic defect in the immunoregulatory system induced by infectious agents, like viruses and bacteria, is thought to cause the disease. In this study, we examine the serum levels of vitamins A, C, and E, β-carotene, selenium, and zinc in Behçet’s disease patients and investigate the relationship between these serum levels and the activation of the disease. We conclude that adding vitamin E to the treatment of Behçet’s disease patients and its effects on the prognosis of the disease need to be further investigated by controlled studies. 相似文献
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N. J. Breet H. E. van Donkersgoed J. W. van Werkum H. J. Bouman J. C. Kelder F. Zijlstra C. M. Hackeng J. M. ten Berg 《Netherlands heart journal》2011,19(6):279-284
Background
The TRITON-TIMI 38 study has identified three subgroups of patients with a higher risk of bleeding during treatment with the thienopyridine prasugrel: patients with a history of stroke or transient ischaemic attack (TIA), patients ≥75 years and patients with a body weight <60 kg. However, the underlying pathobiology leading to this increased bleeding risk remains to be elucidated. The higher bleeding rate may be due to a stronger prasugrel-induced inhibition of platelet aggregation in these subgroups. The aim of the present study was to determine whether on-treatment platelet reactivity is lower in these risk subgroups as compared with other patients in a large cohort on the thienopyridine clopidogrel undergoing elective coronary stenting.Methods
A total of 1069 consecutive patients were enrolled. On-clopidogrel platelet reactivity was measured in parallel by light transmittance aggregometry, the VerifyNow® P2Y12 assay and the PFA-100 collagen/ADP cartridge.Results
Fourteen patients (1.5%) had a prior history of stroke or TIA, 138 patients (14.5%) were older than 75 years and 30 patients (3.2%) had a body weight <60 kg. Age ≥?75 years and a history of stroke were independent predictors of a higher on-treatment platelet reactivity. In contrast, a body weight <60 kg was significantly associated with a lower on-treatment platelet reactivity.Conclusion
In two high-risk subgroups for bleeding, patients ≥?75 years and patients with previous stroke, on-clopidogrel platelet reactivity is increased. In contrast, in patients with a low body weight, on-clopidogrel platelet reactivity is decreased, suggesting that a stronger response to a thienopyridine might only lead to more bleeds in patients with low body weight 相似文献16.
Erel A Ozsoy E Biberoğlu G Bilgihan A Hasanoğlu A Yis MO Atahan C Oruk S 《Biological trace element research》2003,95(2):97-106
Beh?et's disease is a multisystemic disease characterized by activation and remission periods. The etiopathogenesis is not exactly known; a genetic defect in the immunoregulatory system induced by infectious agents, like viruses and bacteria, is thought to cause the disease. In this study, we examine the serum levels of vitamins A, C, and E, beta-carotene, selenium, and zinc in Beh?et's disease patients and investigate the relationship between these serum levels and the activation of the disease. We conclude that adding vitamin E to the treatment of Beh?et's disease patients and its effects on the prognosis of the disease need to be further investigated by controlled studies. 相似文献
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van Kuilenburg AB Dobritzsch D Meijer J Krumpel M Selim LA Rashed MS Assmann B Meinsma R Lohkamp B Ito T Abeling NG Saito K Eto K Smitka M Engvall M Zhang C Xu W Zoetekouw L Hennekam RC 《Biochimica et biophysica acta》2012,1822(7):1096-1108
?-ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyzes the conversion of N-carbamyl-?-alanine and N-carbamyl-?-aminoisobutyric acid to ?-alanine and ?-aminoisobutyric acid, ammonia and CO(2). To date, only five genetically confirmed patients with a complete ?-ureidopropionase deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 11 newly identified ?-ureidopropionase deficient patients as well as the analysis of the mutations in a three-dimensional framework. Patients presented mainly with neurological abnormalities (intellectual disabilities, seizures, abnormal tonus regulation, microcephaly, and malformations on neuro-imaging) and markedly elevated levels of N-carbamyl-?-alanine and N-carbamyl-?-aminoisobutyric acid in urine and plasma. Analysis of UPB1, encoding ?-ureidopropionase, showed 6 novel missense mutations and one novel splice-site mutation. Heterologous expression of the 6 mutant enzymes in Escherichia coli showed that all mutations yielded mutant ?-ureidopropionase proteins with significantly decreased activity. Analysis of a homology model of human ?-ureidopropionase generated using the crystal structure of the enzyme from Drosophila melanogaster indicated that the point mutations p.G235R, p.R236W and p.S264R lead to amino acid exchanges in the active site and therefore affect substrate binding and catalysis. The mutations L13S, R326Q and T359M resulted most likely in folding defects and oligomer assembly impairment. Two mutations were identified in several unrelated ?-ureidopropionase patients, indicating that ?-ureidopropionase deficiency may be more common than anticipated. 相似文献
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Jean B. Smith G. Adrien Shun-Shin Yiping Sun Laura R. Miesbauer Zhucheng Yang Zhiying Yang Xuanjing Zhou Jon Schwedler David L. Smith 《Journal of Protein Chemistry》1995,14(3):179-188
-Crystallins from the water-soluble and the water-insoluble, guanidine-soluble portions of lenses from four renal failure patients and two normal donors of similar age were isolated and enzymatically digested into peptides. Molecular weights of the peptides, determined by fast atom bombardment mass spectrometry, indicated modifications specifically associated with renal failure. The only modifications observed in the-crystallins from renal failure patients, but not in the normal old lenses, were glutathione adducts to Cys 131 and Cys 142. These adducts were present in the lenses of all four renal failure patients, but not in the two normal old lenses. The four lenses from the renal failure patients were searched for evidence of carbamylation at lysyl or cysteinyl residues: carbamylation was not detected. Because the same mass spectrometric methods had previously demonstrated sufficient sensitivity and specificity to detect as little as 5% modification in the examination ofin vitro carbamylated bovine lenses, these results indicated that carbamylation is not a major modification of the lens-crystallins of renal failure patients. 相似文献
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Lopes Consolaro ME Aline Albertoni T Shizue Yoshida C Mazucheli J Peralta RM Estivalet Svidzinski TI 《Revista iberoamericana de micología》2004,21(4):202-205
Vulvovaginal candidiasis (VVC) is an infection caused by abnormal yeast growth in the mucosa of the female genital tract which is commonly diagnosed in gynecology. The aim of this study was to correlate the frequency of yeasts and their respective species in asymptomatic women with different clinical manifestation of VVC; evaluate possible relationships between number of fungus colonies and symptoms in this pathology. All patients who visited the laboratory within a period of five months, for routine examinations of vaginal secretion, independent of the presence or absence of symptoms of VVC were included in this study. Of these, women with immunodeficiency or with an infection of the genital tract by another agent were excluded. Candida albicans was the most frequently yeast isolated (60%). Among non-C. albicans yeasts, 61.5% were isolated of the asymptomatic women, 38.7% from patients with VVC and 11.1% of those from patients with RVVC. C. albicans was associated with symptoms of VVC and while, the presence of non-C. albicans yeasts with asymptomatic women. However, there was no association between the number of fungal colonies and symptoms. 相似文献
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Harman E Karadeniz M Avci CB Zengi A Erdogan M Yalcin M Cetinkalp S Ahmet Gokhan O Gunduz C Saygili F Yilmaz C 《Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology》2012,28(10):830-833
Objective: Infertility and reproductive impairment can be compromised by abnormalities in both endocrine and immune system. TNF-α promotes apoptotic cell death in fetal membrane tissues and pro-inflammatory, proapoptotic, and procoagulant properties of TNF-α probably contribute to widely accepted abortogenic profile of this cytokine. The aim of this study was to assess the alteration in the levels of TSH, FT3, FT4, TNF-α, osteopontin in pregnant and controls. Methods: Study subjects were 28 pregnant women, 28 non-pregnant women, and 28 healthy controls. All subjects underwent venous blood drawing for levels of TNF-α, osteopontin, and also hormonal assays including the levels of anti-TPO, anti-TG antibodies, TSH, FT3, FT4. Results: Both patient and control groups are similar in terms of age. Pregnancy age in conceived patients is 23.64 ± 2.040. No statistically meaningful relation was found in correlation analysis between TNF-α and osteopontin among the groups (p = 0.963). Anti-thyroglobuline antibody and anti-microsomal antibody levels were found to be higher in patients with non-pregnant patients with Hashimoto thyroiditis than the control group (p < 0.001). No statistically meaningful relation was found in terms of TNF-α (p = 0.66) and osteopontin serum levels (p = 0.50) in patient groups with or without miscarriage history. Conclusions: In our study, no statistically meaningful relation was found in terms of TNF-α and osteopontin serum levels in patient groups with and without miscarriage history. 相似文献