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61.
Polycystic kidney disease is an autosomal dominant disease that may be associated with cystic disease of the liver. In women, the cysts may develop early and be more troublesome than in men. Cystadenocarcinoma of the pancreas is uncommon, comprising 1% of primary pancreatic malignancies. This case report is the first to describe a familial association between polycystic kidney disease and cystadenocarcinoma of the pancreas and liver in the English medical literature. A patient with autosomal dominant polycystic kidney disease (ADPKD) and multiple hepatic cysts developed cystadenocarcinoma of the pancreas with multiple malignant liver cysts. The patient's mother, sister, and niece had ADPKD, and the patient's sister also died of pancreatic cystadenocarcinoma. We believe that the development of these two disease entities in which the primary pathology is cyst formation has a genetic association. (Gastroenterology 1997 Jun;112(6):2104-7) 相似文献
62.
Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19 总被引:5,自引:0,他引:5
GM Terwindt RA Ophoff J Haan RR Frants MD Ferrari for the DMGRG 《Cephalalgia : an international journal of headache》1996,16(3):153-155
We compared the clinical characteristics of 50 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39%, vs 15%; p<0.05) and provocation of attacks by mild head trauma (70% vs 40%; p< 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features. 相似文献
63.
Richter GM; Noeldge G; Palmaz JC; Roessle M; Slegerstetter V; Franke M; Gerok W; Wenz W; Farthman E 《Radiology》1990,174(3):1027
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65.
Martin F Sprinzl Carl C Schimanski Markus Moehler Simin Schadmand-Fischer Peter R Galle Stephan Kanzler 《BMC cancer》2006,6(1):190
Background
Extensive disease of cholangiocarcinoma (CC) determines the overall outcome and limits curative resection. Despite chemotherapy, which has been introduced to improve the outcome of biliary tract malignancies, the benefit in survival is still marginal. 相似文献66.
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68.
Schwentner I Schwentner C Schmutzhard J Radmayr C Grabher G Sprinzl G Höfer S 《Journal of evaluation in clinical practice》2007,13(6):942-946
OBJECTIVE: The aim of this study was to validate the German Glasgow Children's Benefit Inventory (GCBI) in children with different surgical interventions. MATERIAL AND METHODS: The GCBI was translated by using accepted forward-backward translation techniques and mailed to 741 parents whose children underwent either an otorhinolaryngological (n = 641) or an urological intervention (n = 100). The assessment was performed in a retrospective manner at the Medical University Innsbruck, Austria between January and March 2006. An exploratory principal component factor analysis with varimax rotation using factor loadings of >or=0.40 to allocate items to a scale was performed. Frequencies, means and standard deviations were used to describe patient, clinical, sociodemographic, and scale characteristics. RESULTS: The questionnaire was completed and returned by 325 patients (43.9%). The GCBI showed a high internal consistency (alpha = 0.84). The four-factor solution, emotional, vitality, learning and physical health explained 55.7% of variance. CONCLUSION: The German version of the GCBI was proven to be valid and reliable. It is suitable for subjective outcome analysis of different paediatric interventions from infants to adolescents. 相似文献
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70.
Extended long-term culture reveals a highly quiescent and primitive human hematopoietic progenitor population 总被引:5,自引:17,他引:5
Long-term culture-initiating cells (LTC-IC) are hematopoietic progenitors able to generate colony-forming unit-cells (CFU) after 5 to 8 weeks (35 to 60 days) of culture on bone marrow (BM) stroma and represent the most primitive progenitors currently detectable in vitro. We have recently reported that long-term cultures initiated with CD34+CD38- cells from BM or cord blood are able to continue generating CFU for at least 100 days, ie, beyond the standard LTC-IC period. In this report, single-cell cultures from cord blood and retroviral marking of cord blood and BM were used to study whether the subpopulation of CD34+CD38- cells able to generate CFU beyond 60 days ("extended long-term culture-initiating cells" or ELTC-IC) are functionally distinct from LTC-IC in terms of timing of initial clonal proliferation and generative capacity. All cord blood LTC-IC formed clones of greater than 50 cells by day 30. In contrast, cord blood ELTC- IC proliferated later in culture, 50% forming clones after day 30. Although efficient retroviral marking of LTC-IC was seen (25% to 45%), marking of ELTC-IC was inefficient (< 1%), consistent with a more quiescent progenitor population. There was a positive correlation between time of clonal proliferation and generative capacity. ELTC-IC generated threefold to fourfold more progeny than did LTC-IC (P < .002). These studies show that there is a functional hierarchy of progenitors in long-term culture which correlates with their level of quiescence. By extending the LTC-IC assay, a more primitive progenitor may be studied that may be functionally closer to the human long-term repopulation stem cell in vivo. 相似文献