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Respective Patients (respective + patient)
Selected AbstractsSomatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP),HUMAN MUTATION, Issue 10 2007Stefan Aretz Abstract Somatic mutational mosaicism presents a challenge for both molecular and clinical diagnostics and may contribute to deviations from predicted genotype,phenotype correlations. During APC mutation screening in 1,248 unrelated patients with familial adenomatous polyposis (FAP), we identified 75 cases with an assumed or confirmed de novo mutation. Prescreening methods (protein truncation test [PTT], DHPLC) indicated the presence of somatic mosaicism in eight cases (11%). Sequencing of the corresponding fragments revealed very weak mutation signals, pointing to the presence of either nonsense or frameshift mutations at low level. All mutations were confirmed and quantified by SNaPshot analysis: in leukocyte DNA from the eight patients, the percentage of mosaicism varied between 5.5% and 77%, while the proportion of the mutation in DNA extracted from adenomas of the respective patient was consistently higher. The eight mutations identified as mosaic are localized within codons 216,1464 of the APC gene. According to the known genotype,phenotype correlation, patients with mutations in this region exhibit typical or severe FAP. However, six of the eight patients presented with an attenuated or atypical polyposis phenotype. Our data demonstrate that in a fraction of FAP patients the causative APC mutation may not be detected due to weak signals or somatic mosaicism that is restricted to tissues other than blood. SNaPshot analysis was proven to be an easy, rapid, and reliable method of confirming low-level mutations and evaluating the degree of mosaicism. Some of the deviations from the expected phenotype in FAP can be explained by the presence of somatic mosaicism. Hum Mutat 28(10), 985,992, 2007. © 2007 Wiley-Liss, Inc. [source] New aspects concerning ulcerative colitis and colonic carcinoma: Analysis of levels of neuropeptides, neurotrophins, and TNFalpha/TNFreceptor in plasma and mucosa in parallel with histological evaluation of the intestineINFLAMMATORY BOWEL DISEASES, Issue 10 2008Malin Johansson MSc Abstract Background: The levels of neuropeptides, neurotrophins, and TNFalpha (TNF,)/TNF receptor in plasma and mucosa for patients with ulcerative colitis (UC) and colonic carcinoma, and concerning plasma also for healthy controls, were examined. Moreover, the relationships between the different substances and the influence of mucosal derangement on the levels were analyzed. Methods: The levels of VIP, SP, CGRP, BDNF, NGF, and TNF,/TNFreceptor1 were measured using ELISA/EIA. Results: Patients with UC demonstrated the highest levels of all analyzed substances in plasma, with the exception of BDNF. However, there were differences within the UC group, patients treated with corticosteroids, and/or nonsteroid antiinflammatory/immunosuppressive treatment having higher plasma levels than those not given these treatments. Patients with colonic carcinoma showed higher SP and TNFreceptor1 levels in plasma compared to healthy controls. Concerning mucosa, the levels of almost all analyzed substances were elevated for patients with UC compared to noncancerous mucosa of colonic carcinoma patients. There were correlations between many of the substances in both plasma and mucosa, especially concerning the 3 neuropeptides examined. There were also marked associations with mucosa derangement. Conclusions: Via analysis of correlations for the respective patients and via comparisons between the different patient groups, new and original information was obtained. Interestingly, the degree of mucosal affection was markedly correlated with tissue levels of the substances and the treatments were found to be of importance concerning plasma but not tissue levels of these. Combined plasma analysis of neuropeptides, neurotrophins, and TNFreceptor1 may help to distinguish UC and colonic carcinoma patients. (Inflamm Bowel Dis 2008) [source] Culturally diverse patient,nurse interactions on acute care wardsINTERNATIONAL JOURNAL OF NURSING PRACTICE, Issue 6 2006Jane Cioffi RN PhD The nurse,patient interaction is central to providing nursing care. This qualitative study explores nurses' and culturally diverse patients' experiences within nurse,patient relationships in acute care wards. Eight nurses and their respective patients volunteered to join the study and were interviewed. The three themes identified in relationships between nurses and culturally diverse patients were shared tension, perceived difference and held awareness. It is concluded from the study that relationships between nurses and culturally diverse patients in acute care wards during short episodes of hospitalization are not easy for nurses and need to receive deeper consideration as to how they can be developed more effectively. It is recommended that educational support be provided to develop more effective interactions between nurses and patients with research being carried out to investigate factors that can strengthen culturally diverse patient,nurse interactions in acute care settings. [source] Mutational Analysis and Functional Correlation With Phenotype in German Patients With Childhood-Type HypophosphatasiaJOURNAL OF BONE AND MINERAL RESEARCH, Issue 12 2001Hideo Orimo Abstract The tissue-nonspecific alkaline phosphatase (TNSALP) gene from five German family members with childhood-type hypophosphatasia (HOPS) was analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)-direct sequencing method. Four novel missense mutations (T51M, R54S, L258P, and R374H) and two that had been described previously (A160T and R206W) were detected in the respective patients. Mutation A160T was detected in 3 distinct patients, and a polymorphism V505A that had been described previously was detected in the same allele as L258P mutation in 1 patient and in 2 fathers whose V505A alleles were not transmitted to the probands. No other mutations were found in 2 patients. Transient expression of the mutant proteins in COS-1 cells showed that the four novel mutations and R206W were severe alleles, whereas A160T was a moderate allele. Analysis of its enzymatic activity and genetic transmission patterns confirmed that V505A was a polymorphism. Immunoprecipitation of the transiently expressed proteins showed that levels of the 80-kDa mature form of the enzyme were diminished or absent with the severe alleles; instead, levels of high-molecular mass disulfide-linked aggregates were increased. These results suggest that in compound heterozygotes, the combination of severe and moderate alleles may combine to cause the mild phenotype seen in childhood-type HOPS. [source] | ||||||||||