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81.
I Wacks J R Oster D Roth M Norenberg L B Gardner G O Perez G Burke M Milgrom 《Clinical nephrology》1992,37(1):19-22
We describe a woman whose fatal post-liver transplantation cerebral edema was unexpected and of unusual pathogenesis. Her severe cerebral edema is of considerable pathophysiologic interest: 1) it developed in the setting of marked anasarca and persistent hypernatremia, and 2) although hepatic function was poor, it was not considered sufficiently deranged to induce cerebral edema. Furthermore, there was no histologic evidence of hepatic rejection or antemortem hepatic necrosis. We postulate that an impairment of the blood brain barrier in association with a degree of hepatic dysfunction insufficient by itself to cause cerebral edema permitted the brain interstitial fluid volume to increase pari passu with ECF expansion. Cytotoxic cerebral edema and vascular engorgement may also have contributed to a life-threatening increase in intracranial pressure. 相似文献
82.
Ast Gil; Goldblatt Drora; Waisman Ari; Sperling Ruth; Mozes Edna; Sperling Joseph 《International immunology》1994,6(8):1097-1105
83.
Jun Gu Yang O Huh Feng Jiang Nancy P Caraway Jorge E Romaguera Tanweer M Zaidi Ricardo L Fernandez Huazhong Zhang Issa F Khouri Ruth L Katz 《Modern pathology》2004,17(5):553-560
Mantle cell lymphoma is non-Hodgkin's B-cell lymphoma characterized by the t(11;14)(q13;q32) translocation. Peripheral blood involvement of mantle cell lymphoma is usually associated with a poor prognosis and therefore, its identification is clinically important. In this study, we performed cyclin D1/IgH-probe fusion fluorescence in situ hybridization analysis on 223 peripheral blood samples: 185 from 125 mantle cell lymphoma patients, and 38 normal controls. The cutoff values for the test were established using normal controls. Flow cytometry on peripheral blood and corresponding bone marrow samples was used to evaluate this test. In all, 26% of the 185 peripheral blood samples and 27% of the 161 corresponding bone marrow samples were flow cytometry positive for mantle cell lymphoma. The mean numbers of single and- double-fusion signals and the mean number of CD5/CD19-positive cells, absolute blood lymphocyte count, and white blood cell count were significantly higher in peripheral blood and corresponding bone marrow samples with mantle cell lymphoma-positive flow cytometry. Double-fusion signals were more specific than single-fusion ones. Fluorescence in situ hybridization was far more likely to be positive for mantle cell lymphoma when the peripheral blood and the corresponding bone marrow samples had positive flow cytometry results or morphology (P<0.01). Our study indicates that cyclin D1/IgH-fusion fluorescence in situ hybridization analysis could be used to determine the presence and character of circulating mantle cell lymphoma cells in peripheral blood, thus enhancing our ability to evaluate leukemic mantle cell lymphoma and minimum residual disease. 相似文献
84.
Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer. 总被引:2,自引:0,他引:2
Wesley P Francis Daniald M Rodrigues Nolan E Perez Fulvio Lonardo Donald Weaver John D Webber 《JSLS, Journal of the Society of Laparoendoscopic Surgeons》2007,11(1):142-147
BACKGROUND: Ten percent of gastric cancer (GC) cases are familial, with one third resulting from a mutation in the tumor suppressor gene CDH1. Loss of this important structure can result in hereditary diffuse gastric cancer (HDGC), which carries a high mortality if early diagnosis is not made. Despite its clear genetic origin, optimal management of HDGC family members is controversial, as the utility and efficacy of current cancer screening programs for mutation carriers are unproven. METHODS: A 53-year-old Caucasian woman was initially seen for genetic screening because multiple family members had mutations of the CDH1 gene. Her pedigree analysis demonstrated 4 generations of gastric cancer, and 2 of the generations carried the CDH1 germline mutation, consistent with HDGC. At endoscopy, the patient's gastric mucosa was normal and random biopsies were also normal. The patient underwent a laparoscopic total gastrectomy. RESULTS: The gross examination of her stomach appeared normal. On histologic examination, however, the stomach was found to have diffuse (signet ring cell) adenocarcinoma in-situ with 11 microscopic foci of invasive adenocarcinoma limited to the lamina propria. CONCLUSION: Our case is the first reported prophylactic total gastrectomy utilizing a laparoscopic approach, and it highlights the importance of taking a thorough family history and obtaining a pedigree analysis. Endoscopic screening in HDGC cannot rule out diffuse GC, because the stomach and biopsies can be normal despite the presence of adenocarcinoma. Therefore, our case supports the recommendation for prophylactic gastrectomy in HDGC. 相似文献
85.
Lorraine N Clark Eneli Haamer Helen Mejia-Santana Juliette Harris Suzanne Lesage Alexandra Durr Sabine Janin Bs Katja Hedrich Elan D Louis Lucien J Cote Howard Andrews Stanley Fahn Cheryl Waters Blair Ford Steven Frucht William Scott Christine Klein Alexis Brice Hanno Roomere Ruth Ottman Karen Marder 《Movement disorders》2007,22(7):932-937
Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives. 相似文献
86.
87.
88.
89.
Michael C. Cheung Eduardo A. Perez Manuel A. Molina Xiaoling Jin Juan C. Gutierrez Dido Franceschi Alan S. Livingstone Leonidas G. Koniaris 《Journal of gastrointestinal surgery》2008,12(4):731-738
Objective The objective of the study was to determine the outcomes for primary gastrointestinal melanomas (PGIM).
Material and methods The Surveillance, Epidemiology, and End Results database (1973–2004) was queried.
Results Overall, 659 cases of PGIM were identified. The annual incidence of PGIM was approximately 0.47 cases per million in 2000.
Overall median survival time was 17 months. Tumors were identified in the oral–nasopharynx (32.8%), anal canal (31.4%), rectum
(22.2%), esophagus (5.9%), stomach (2.7%), small bowel (2.3%), gallbladder (1.4%), and large bowel (0.9%). Univariate analysis
demonstrated age, tumor location, stage, surgery, and lymph node status were significant predictors of improved survival.
MST has not been reached for tumors located in the large bowel, while tumors located in the stomach demonstrated the shortest
median survival (5 months). Improvement in MST was observed for those patients undergoing surgical resection. The presence
of lymph node involvement conferred a poorer prognosis. Multivariate analysis of the cohort identified that location, advanced
tumor stage, failure to undertake surgical resection, positive lymph node status, and age were all independent predictors
of poorer outcome.
Conclusion PGIM occurs most often in the oral–nasopharynx and anal canal. Surgical extirpation is the only identifiable treatment modality
that significantly improves survival. 相似文献
90.
A single VH family and long CDR3s are the targets for hypermutation in bovine immunoglobulin heavy chains 总被引:1,自引:0,他引:1
Summary: Bovine immunoglobulins are made from genes belonging to a small family of closely related Vh, genes. In this respect cattle resemble all species of domesticated mammals, which also use one VH family The family, named BoVH1, is homologous to the mouse Q52 family, and there are no more than 20 genes of this family in the bovine genome. Another feature of bovine heavy chains is the use of long CDR3s, which have an average of 21 codons. It seems that there are several families of long, closely related D genes rich in glycine and tyrosine responsible for this length. Sequences described as targets for mutations in other species can be found in CDR1, CDR2, and the putative D genes. The mutation mechanism starts at some point between late fetal stage and birth and seems to be antigen Independent. Diversity seems to be generated by hypermutation, although other mechanistns cannot be discomited at this time. Contrary to humans and mice, which have several Vh gene families comprising more than 100 genes, cattle use only a few genes and long CDR3s followed by somatic mutation to generate the necessary diversity to recognize the universe of antigens they will encounter during their life. 相似文献