共查询到20条相似文献，搜索用时 78 毫秒
1.
S Goldfischer J Collins I Rapin B Coltoff-Schiller C H Chang M Nigro V H Black N B Javitt H W Moser P B Lazarow 《Science (New York, N.Y.)》1985,227(4682):67-70
Accumulation of very long chain fatty acids in X-linked and neonatal forms of adrenoleukodystrophy (ALD) appears to be a consequence of deficient peroxisomal oxidation of very long chain fatty acids. Peroxisomes were readily identified in liver biopsies taken from a patient having the X-linked disorder. However, in liver biopsies from a patient having neonatal-onset ALD, hepatocellular peroxisomes were greatly reduced in size and number, and sedimentable catalase was markedly diminished. The presence of increased concentrations of serum pipecolic acid and the bile acid intermediate, trihydroxycoprostanic acid, in the neonatal ALD patient are associated with a generalized diminution of peroxisomal activities that was not observed in the patient with X-linked ALD. 相似文献
2.
吴淼 《湖南农业大学学报(自然科学版)》2014,(2):115-120
目的：在医院内建立基于条形码的门诊挂号系统软件，从而提升医院的服务质量和管理水平。 方法：依据患者挂号流程，综合利用条形码识别技术、数据库技术和.NET编程等技术实现高效的门诊挂号系统软件。 结果：该软件很好地解决了传统挂号系统中存在的诸多问题。 结论：该系统软件在医院中应用，优化了门诊业务流程,节约了人力、物力成本,改善了医院组织结构和管理体制，促进了医疗信息化建设的深入和拓展。 相似文献
3.
Lactate transporter defect: a new disease of muscle 总被引：1，自引：0，他引：1
W N Fishbein 《Science (New York, N.Y.)》1986,234(4781):1254-1256
New methods were used to identify the abnormality in a patient who showed evidence of neuromuscular dysfunction on extensive clinical examination. The methods revealed that the lactate content of the patient's skeletal muscle does not decline normally after exercise and that his red cells are defective in lactate transport. These results suggest that skeletal muscle and erythrocyte membranes share the same genetic lactate transporter (or a common subunit), which is deficient in this patient. This defect may be a common cause of elevated serum creatine kinase levels, as seen in the patient described here and of unexplained episodes of rhabdomyolysis and myoglobinuria. 相似文献
4.
目的通过一例Ⅰ期子宫内膜癌患者的手术方式及是否需要行盆腔淋巴结清扫的问题,检索当前最佳临床证据,针对患者具体情况为治疗提供依据。方法根据循证医学的PICO原则,提出问题,检索证据,对所获证据进行质量评价,并结合患者具体情况制定治疗方案。结果共纳入中、英文文献138篇,2个随机对照试验和3篇临床指南。证据结果表明：对于Ⅰ期子宫内膜癌的手术方式及手术范围,目前并无大宗RCT提供证据,综合指南推荐、文献报道、临床经验及患者具体情况,该名患者手术方式目前仍推荐用腹式,并行盆腔淋巴结清扫术。结论对于Ⅰ期子宫内膜癌的手术方式及范围,目前并无强有力的证据支持,需要遵循循证医学的原则,综合各方面因素考虑。 相似文献
5.
6.
Extracts of tissue fluids from a patient with subacute necrotizing encephalomyelopathy inhibit thiamine pyrophosphate-adenosine triphosphate phosphotransferase of rat brain. Brain tissue from the patient, in contrast to normal brain tissue, contained essentially no thiamine triphosphate, although thiamine and its other phosphate esters were present in normal concentrations. These findings suggest a relation between this disease and thiamine triphosphate. 相似文献
7.
Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme. 相似文献
8.
Virions from progressive multifocal leukoencephalopathy: rapid serological identification by electron microscopy 总被引：5，自引：0，他引：5
J B Penney L P Weiner R M Herndon O Narayan R T Johnson 《Science (New York, N.Y.)》1972,178(56):60-62
Virions were extracted directly from the brain of a patient with progressive multifocal leukoencephalopathy (PML). They were treated with antiserum to SV40, with rabbit antiserum to previous PML isolates, or with serum from another patient with the same disease and observed directly by electron microscopy. This procedure could be used for the rapid identification of the antigenic nature of virions in cases of PML. 相似文献
9.
Chikungunya virus and dengue type 2 virus were isolated from a single blood specimen taken from a patient in the acute phase of a dengue-like illness seen at Christian Medical College Hospital, Vellore, South India, in October 1964. In serial blood specimens collected from this patient there was an increase in antibody to these same two viruses. The technique for unmasking an agent (such as dengue) with a long incubation period in mice in the presence of an agent with a short incubation period is described. 相似文献
10.
Myxovirus-like structures in a case of human chronic polymyositis 总被引：11，自引：0，他引：11
S M Chou 《Science (New York, N.Y.)》1967,158(807):1453-1455
Intranuclear and intracytoplasmic aggregates of filaments with tubular structures and transverse striations occurred in muscle tissues biopsied from a patient with chronic polymyositis. The filamentous tubules bear a close resemblance to the incomplete form of myxovirus in which the envelope is missing. Three biopsies from the same patient, taken during a period of 1(1/2) years, all revealed these structures. This finding provides presumptive evidence that a chronic persistent viral infection may be involved in the pathogenesis of chronic polymyositis. 相似文献
11.
沈林生 《浙江大学学报(农业与生命科学版)》1992,(2)
作者收集了1980～1989年浙江农业大学学生中32例肺结核患者病案,进行分组讨论,结果发现:在校门诊治疗组9例及短期住院后转入校门诊治疗组16例,均获得满意疗效,同时,周围接触者亦无新发病例.这说明在学生中的肺结核患者可采取不休学,在校边治疗边上课的方式进行管理和治疗. 相似文献
12.
Behavioral data on a large patient group were collected by investigators from nine countries in the International Pilot Study of Schizophrenia, sponsored by the World Health Organization. The data on half the group were analyzed to derive a system of 12 signs and symptoms for the identification of schizophrenia, as this disorder is diagnosed in many centers throughout the world. The findings were replicated with the other half of the patient group. The criteria constitute an operational method for identifying patients who would be commonly considered schizophrenic in many centers. 相似文献
13.
L M Davis R Stallard G H Thomas P Couillin C Junien N J Nowak T B Shows 《Science (New York, N.Y.)》1988,241(4867):840-842
The association of Wilms' tumor with aniridia (the WAGR complex) in children with 11p13 chromosomal abnormalities has been established, but the paucity of molecular probes in 11p13 has hampered identification of the responsible genes. Two new anonymous DNA segments have been identified that map to the WAGR region of 11p13. Both DNA probes identify a cytologically undetectable deletion associated with a balanced chromosome translocation inherited by a patient with familial aniridia, but not Wilms' tumor. The same two DNA segments are also included in the distal p13-p14.1 deletion of another patient, who has aniridia, Wilms' tumor, and hypogonadism, but they are not included in the p12-p13 deletion of a third patient, who does not have aniridia but has had a Wilms' tumor. The discovery of this aniridia deletion and these two DNA segments that physically separate the Wilms' tumor and aniridia loci should facilitate identification of the genes in the WAGR locus, beginning with the aniridia gene. 相似文献
14.
Oxygen-hemoglobulin dissociation curves: effect of inherited enzyme defects of the red cell 总被引：4，自引：0，他引：4
The blood of a patient with a deficiency of hexokinase in the red cells and a decreased concentration of 2, 3-diphosphoglycerate in the red cells showed an increased affinity for oxygen, whereas a patient with a deficiency of pyruvate kinase and an elevated concentration of 2, 3-diphosphoglycerate in the red cells had blood with a decreased affinity for oxygen. Defects in red cell glycolysis may alter the oxygen affinity of blood by virtue of their effect on 2, 3-diphosphoglycerate concentrations in red cells. 相似文献
15.
V Manzari A Gismondi G Barillari S Morrone A Modesti L Albonici L De Marchis V Fazio A Gradilone M Zani 《Science (New York, N.Y.)》1987,238(4833):1581-1583
A new human retrovirus was isolated from a continuous cell line derived from a patient with CD4+ Tac- cutaneous T cell lymphoma/leukemia. This virus is related to but distinct from human T cell leukemia/lymphoma virus types I and II (HTLV-I and HTLV-II) and human immunodeficiency virus (HIV-1). With the use of a fragment of provirus cloned from one patient with T cell leukemia, closely related sequences were found in DNA of the cell line and of tumor cells from seven other patients with the same disease; these sequences were only distantly related to HTLV-I. The phenotype of the cells and the clinical course of the disease were clearly distinguishable from leukemia associated with HTLV-I. All patients and the wife of one patient showed a weak serological cross-reactivity with both HTLV-I and HIV-1 antigens. None of the patients proved to be at any apparent risk for HIV-1 infection. The name proposed for this virus is HTLV-V, and the date indicate that it may be a primary etiological factor in the major group of cutaneous T cell lymphomas/leukemias, including the sporadic lymphomas known as mycoses fungoides. 相似文献
16.
Minegishi Y Rohrer J Coustan-Smith E Lederman HM Pappu R Campana D Chan AC Conley ME 《Science (New York, N.Y.)》1999,286(5446):1954-1957
The signal transduction events that control the progenitor B cell (pro-B cell) to precursor B cell (pre-B cell) transition have not been well delineated. In evaluating patients with absent B cells, a male with a homozygous splice defect in the cytoplasmic adapter protein BLNK (B cell linker protein) was identified. Although this patient had normal numbers of pro-B cells, he had no pre-B cells or mature B cells, indicating that BLNK plays a critical role in orchestrating the pro-B cell to pre-B cell transition. The immune system and overall growth and development were otherwise normal in this patient, suggesting that BLNK function is highly specific. 相似文献
17.
Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding 总被引：20，自引：0，他引：20
Mononuclear blood cells were obtained from a patient with type A insulin resistance. The cells showed a normal ability to bind iodine 125-labeled insulin. Analysis of solubilized insulin receptors from the patient's cells revealed a defect in insulin-stimulated tyrosine kinase activity, which is closely associated with the receptor itself. The enzyme failed to phosphorylate the insulin receptor and showed a markedly reduced ability to phosphorylate exogenously added substrates. It appears that receptors from this insulin-resistant patient have a defect distal to the insulin-binding site (the alpha subunit of the receptor). The defect could be located in the beta subunit, which has an adenosine triphosphate-binding site, or in another receptor component that transfers a signal of insulin binding into kinase activity. This dissociation between the normal binding and the defective protein kinase component of the insulin receptor represents the first biochemical defect of the receptor distal to ligand binding. 相似文献
18.
Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing 总被引：21，自引：0，他引：21
Y Yoshimasa S Seino J Whittaker T Kakehi A Kosaki H Kuzuya H Imura G I Bell D F Steiner 《Science (New York, N.Y.)》1988,240(4853):784-787
A point mutation in the human insulin receptor gene in a patient with type A insulin resistance alters the amino acid sequence within the tetrabasic processing site of the proreceptor molecule from Arg-Lys-Arg-Arg to Arg-Lys-Arg-Ser. Epstein-Barr virus-transformed lymphocytes from this patient synthesize an insulin receptor precursor that is normally glycosylated and inserted into the plasma membrane but is not cleaved to mature alpha and beta subunits. Insulin binding to these cells is severely reduced but can be increased about fivefold by gentle treatment with trypsin, accompanied by the appearance of normal alpha subunits. These results indicate that proteolysis of the proreceptor is necessary for its normal full insulin-binding sensitivity and signal-transducing activity and that a cellular protease that is more stringent in its specificity than trypsin is required to process the receptor precursor. 相似文献
19.
Galon J Costes A Sanchez-Cabo F Kirilovsky A Mlecnik B Lagorce-Pagès C Tosolini M Camus M Berger A Wind P Zinzindohoué F Bruneval P Cugnenc PH Trajanoski Z Fridman WH Pagès F 《Science (New York, N.Y.)》2006,313(5795):1960-1964
The role of the adaptive immune response in controlling the growth and recurrence of human tumors has been controversial. We characterized the tumor-infiltrating immune cells in large cohorts of human colorectal cancers by gene expression profiling and in situ immunohistochemical staining. Collectively, the immunological data (the type, density, and location of immune cells within the tumor samples) were found to be a better predictor of patient survival than the histopathological methods currently used to stage colorectal cancer. The results were validated in two additional patient populations. These data support the hypothesis that the adaptive immune response influences the behavior of human tumors. In situ analysis of tumor-infiltrating immune cells may therefore be a valuable prognostic tool in the treatment of colorectal cancer and possibly other malignancies. 相似文献
20.
目的对糖尿病酮症酸中毒合并肺毛霉菌感染病例进行临床分析,探讨该病的诊断程序及治疗措施.方法对1例糖尿病酮症酸中毒合并肺毛霉菌感染患者的临床表现、诊断及治疗进行临床分析.结果糖尿病酮症酸中毒合并肺部感染,经气管镜肺活检临床确诊为肺毛霉菌感染.该患者用两性霉素B脂质体治疗3 d,死于大咯血.结论毛霉菌病是一种罕见的病死率很高的系统性真菌感染,早期诊断和早期进行抗菌治疗非常重要. 相似文献