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Consistent Feature (consistent + feature)
Selected AbstractsCongenital Cardiovascular Disease in Turner SyndromeCONGENITAL HEART DISEASE, Issue 1 2008Carolyn A. Bondy MD ABSTRACT Turner syndrome (TS), or monosomy X, occurs in ,1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the syndrome. Congenital cardiovascular disease affects ,50% of individuals and is the major cause of premature mortality in adults. Unfortunately, this most important aspect of the syndrome has received little attention outside of pediatric medicine, and adult cardiological follow-up is seriously lacking. This review describes the spectrum of cardiovascular defects with particular attention to identifying risk factors for aortic dissection/rupture. X-chromosome genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. Recent guidelines for diagnosis and treatment of girls and women with TS are reviewed. [source] A test of the community conditioning hypothesis: Persistence of effects in model ecological structures dosed with the jet fuel jp-8ENVIRONMENTAL TOXICOLOGY & CHEMISTRY, Issue 2 2000Wayne G. Landis Abstract The foundation of the community conditioning hypothesis, the persistence of effects, was tested in a series of microcosm experiments. Experiments were conducted with the water-soluble fraction of the turbine fuel JP-8 using the standard protocols for the standardized aquatic microcosm (SAM). A repeat trial was conducted using the SAM protocol but with a 126-d test period, twice the standard duration. The results were examined using a variety of conventional univariate, multivariate, and graphical techniques. The principal conclusions were as follows. Effects are persistent in these model ecological systems long after the degradation of the toxicant. Patterns of impacts are detectable at concentrations 15 times lower than an experimentally derived single-species EC50. The replicate experiments are not replicable in the specific, but the broad pattern of the disruption of algal- herbivore dynamics followed by more subtle effects are consistently repeated. The durability of the indirect effects and therefore the information about historical events appears to be a consistent feature of these microcosm systems. The identity of the treatment groups persists. The critical features of the community conditioning hypothesis,persistence of information within ecologicalsystems and the reappearance of patterns and therefore the nonequilibrium dynamics,are again confirmed. The implications of these findings for environmental toxicology, monitoring, and ecological risk assessment are discussed. [source] 3 Phylogenetic affinity of the palmelloid green algae, verdigellas and palmophyllum (chlorophyta), based on analyses of nuclear-encoded small subunit rDNA sequencesJOURNAL OF PHYCOLOGY, Issue 2003M. P. Ashworth Palmophyllum, Verdigellas and Palmoclathrus are marine palmelloid green algae with morphologies ranging from closely adherent crusts, peltate discs, to upright branched thalli. Thalli of these taxa are comprised of small spherical cells embedded within a dense mucilaginous matrix. Taxonomic affinities of these palmelloid genera, however, has remained uncertain. Previous studies of Palmophyllum and Verdigellas classified these algae within the Palmellaceae, but the complete absence of data regarding reproduction have blurred ordinal designations. Generally, these algae have been classified as members of the Tetrasporales within the class Chlorophyceae, but the Chlorococcales has also been proposed. Global analyses of eukaryotic nuclear-encoded small subunit rDNA sequences based on parsimony (MP), neighbor joining (NJ) and likelihood (ML) methods confirm the placement of Palmophyllum and Verdigellas as a monophyletic group within the Chlorophyta, but class and ordinal affinities were not clearly resolved. ML suggested that Verdigellas and Palmophyllum are members of a clade with coccoid prasinophyte algae at the base of the Chlorophyta, while NJ and ML suggested that the palmelloid genera formed a basal lineage of the Viridiplantae. A consistent feature of all analyses, however, is that Verdigellas and Palmophyllum did not group with the chlorophycean orders, Tetrasporales or Chlorococcales. Results will be discussed in the context of taxonomy, character evolution, and implications for green plant evolution. (Supported in part by NSF grants DEB-0128952 to MWF, DEB-0129030 to MAB, and DEB-0128977 to FWZ) [source] Chromosome 8p11.2 translocations: Prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution,AMERICAN JOURNAL OF HEMATOLOGY, Issue 4 2010Mrinal M. Patnaik Chromosome 8p11.2 translocations result in diverse oncogenic fusion genes involving FGFR1 or MYST3. Among 24,262 unique patient cytogenetic studies performed at the Mayo Clinic, 8p11.2 translocations were identified in 14 cases (,0.06%). FISH analysis was performed in 13 patients (12 had myeloid neoplasms) and revealed abnormalities of MYST3 (n = 4) or FGFR1 (n = 4) in eight patients. MYST3 abnormalities were associated with acute myeloid leukemia (AML), M4 in three and M6 in one. Three of the four FGFR1 -rearranged cases were associated with myeloproliferative neoplasms but none, including the two with sole 8p11.2, displayed the typical phenotype for stem cell leukemia/lymphoma (SCLL) and only one had eosinophilia; the fourth case had AML-M4. FISH did not reveal FGFR1 involvement in the one patient with SCLL. We conclude that neither the SCLL phenotype nor blood eosinophilia is a consistent feature of FGFR1 -associated 8p11.2 translocations; conversely, FISH might not always reveal FGFR1 involvement in typical SCLL. Am. J. Hematol. 2010. © 2010 Wiley-Liss, Inc. [source] Accessory Tragus: Report of Two Cases and Review of the LiteraturePEDIATRIC DERMATOLOGY, Issue 5 2000Thomas Jansen M.D. In the vast majority of cases it is an isolated developmental defect not associated with other abnormalities. However, the remote possibility exists that it could be associated with other abnormalities of the first and second branchial arch. Accessory tragus is a consistent feature of the oculoauriculovertebral syndrome (Goldenhar syndrome). When correctly identified, surgical excision of accessory tragus is quite simple and rarely results in any complications. [source] Sequence and expression analyses of , and , transcripts in patients with waldenström's macroglobulinemiaAMERICAN JOURNAL OF HEMATOLOGY, Issue 3 2001Satoshi Shiokawa Abstract Waldenström's macroglobulinemia (WM) is a malignant lymphoplasmo-proliferative disorder with monoclonal pentameric immunoglobulin (Ig)M production. The most consistent feature of clonal B cells in the bone marrow (BM) and/or lymph nodes of patients with WM is the presence of pleomorphic B-lineage cells at different stages of maturation, such as small lymphocytes, lymphoplasmacytoid cells, and plasma cells. Monoclonal lymphocytes express , chains with or without , chains. A recent DNA analysis of WM tumor clones showed WM to be derived from B cells that have been selected by antigen at a relatively late stage of differentiation. To further clarify the origin of WM tumor cells, we analyzed the variable (V) domain sequences of tumor derived , and , transcripts. The expression of , transcripts was also examined in peripheral blood (PB) and BM using the reverse transcriptase polymerase chain reaction (RT-PCR) combined with a single-strand conformation polymorphism (SSCP) analysis. The sequences were identical among the , and , transcripts in each patient and the level of somatic mutation in the VH regions expressed by tumor cells was in the same range as that of IgM-only B cells and IgM+IgD+ memory B cells. In our previous RT-PCR-SSCP analysis, a single dominant band of the , isotype was observed in BM and PB in all patients. However, common dominant bands in BM and PB were detected in only one patient in a , transcript analysis. In the rest of the patients, monoclonal , transcripts were only detected in BM. Our results suggest that a normal counterpart of WM cells is somatically mutated IgM+IgD+ and/or IgM-only B cells and the expression patterns of monoclonal , and , transcripts differ between BM and PB in some cases of WM. Am. J. Hematol. 68:139,143, 2001. © 2001 Wiley-Liss, Inc. [source] Is cyclic AMP formation desensitized in patients with end-stage renal failure?AUTONOMIC & AUTACOID PHARMACOLOGY, Issue 1 2005K. Leineweber Summary 1 Cyclic AMP formation has consistently been reported to be desensitized in various tissues including heart of animal models of end-stage renal failure (ESRF). In contrast, reports on desensitization of cAMP formation in ESRF patients remain contradictory. Whether this discrepancy results from a difference between human ESRF and its animal models or from the use of circulating blood cells in the human and various solid tissues in the animal studies, remains unclear. Therefore, we performed three studies with heart and platelets of ESRF patients undergoing haemodialysis or continuous ambulatory peritoneal dialysis and age- and gender-matched controls with normal renal function (n = 11,13 each). 2 In platelets from haemodialysis patients adenylyl cyclase activity in response to receptor-dependent and -independent agonists was reduced by ,30%, and this could be explained by an alteration at the level of adenylyl cyclase itself. However, no such desensitization was seen in platelets from peritoneal dialysis patients. 3 In hearts from ESRF patients undergoing haemodialysis, , -adrenoceptor density and subtype distribution, cAMP formation in response to the , -adrenoceptor agonist isoprenaline or various receptor-independent stimuli, were very similar to those in control patients but activity of G-protein-coupled receptor kinase was increased by ,20%. 4 We conclude that conflicting reports on the desensitization of cAMP formation between ESRF patients and ESRF animal models are not explained by the use of solid tissues in animal studies vs. circulating blood cells in patient studies. Rather desensitization of cAMP formation seems to be a less consistent feature of human ESRF than of its animal models. [source] Association between leptin receptor gene polymorphisms and early-onset prostate cancerBJU INTERNATIONAL, Issue 1 2003Z. Kote-Jarai Significant tissue loss is a consistent feature of ureteric obstruction with, most studies showing increased programmed cell death or apoptosis of kidney epithelial cells. The study by Chuang et al. showed that there is also muscular damage during obstruction, specifically of the ureteric myocytes. More importantly they show for the first time that this induction of cell death is associated with the increased expression of cytochrome c and the caspases, key proteins that drive the induction of apoptosis. Admittedly they do not show whether cytochrome c is released from the mitochondria or that the caspases are truly activated, important events in the cell death pathway, but an increase in their expression does indicate their role in this process. Understanding the pathways leading to tissue loss during ureteric obstruction has important implications in the development of novel treatments for this condition. OBJECTIVE To report a case-control study examining the relationship between polymorphisms in the leptin receptor (OBR) gene and the development of young-onset prostate cancer, because epidemiological studies report that prostate cancer risk is associated with animal fat intake, and thus we investigated if this association occurs via this genetic mechanism. PATIENTS, SUBJECTS AND METHODS The Lys109Arg (OBR1) and Gln223Arg (OBR2) polymorphisms in the coding region of OBR were studied in blood DNA from 271 patients with prostate cancer aged < 56 years at diagnosis and 277 geographically matched control subjects. Cases were collected through the Cancer Research UK/British Prostate Group Familial Prostate Cancer Study. Blood DNA was genotyped using the polymerase chain reaction and a restriction enzyme digest. RESULTS There was no statistically significant association between the OBR genotype and prostate cancer risk; men homozygous for 109Arg genotype had a slightly increased risk for prostate cancer, with a relative risk (95% confidence interval) of 1.36 (0.65,2.85), and those homozygous for the 223Arg allele had some reduction in prostate cancer risk, at 0.82 (0.58,1.26), but neither was statistically significant. CONCLUSION This case-control study showed no significant association between leptin receptor gene polymorphisms and the risk of young-onset prostate cancer, suggesting that genetic variations in OBR are unlikely to have a major role in the development of early-onset prostate cancer in the UK. [source] WASP plays a novel role in regulating platelet responses dependent on ,IIb,3 integrin outside-in signallingBRITISH JOURNAL OF HAEMATOLOGY, Issue 3 2010Anna Shcherbina Summary The most consistent feature of Wiskott Aldrich syndrome (WAS) is profound thrombocytopenia with small platelets. The responsible gene encodes WAS protein (WASP), which functions in leucocytes as an actin filament nucleating agent ,yet, actin filament nucleation proceeds normally in patient platelets regarding shape change, filopodia and lamellipodia generation. Because WASP localizes in the platelet membrane skeleton and is mobilized by ,IIb,3 integrin outside-in signalling, we questioned whether its function might be linked to integrin. Agonist-induced ,IIb,3 activation (PAC-1 binding) was normal for patient platelets, indicating normal integrin inside-out signalling. Inside-out signalling (fibrinogen, JON/A binding) was also normal for wasp-deficient murine platelets. However, adherence/spreading on immobilized fibrinogen was decreased for patient platelets and wasp-deficient murine platelets, indicating decreased integrin outside-in responses. Another integrin outside-in dependent response, fibrin clot retraction, involving contraction of the post-aggregation actin cytoskeleton, was also decreased for patient platelets and wasp-deficient murine platelets. Rebleeding from tail cuts was more frequent for wasp-deficient mice, suggesting decreased stabilisation of the primary platelet plug. In contrast, phosphatidylserine exposure, a pro-coagulant response, was enhanced for WASP-deficient patient and murine platelets. The collective results reveal a novel function for WASP in regulating pro-aggregatory and pro-coagulant responses downstream of integrin outside-in signalling. [source] Sociolinguistic inference and intercultural coorientation.HUMAN COMMUNICATION RESEARCH, Issue 3 2001A Bayesian model of communicative competence in intercultural interaction We present a model that examines the effects of cultural differences on coorientation (the ability of communicators to accurately encode and interpret the referential and relational meanings of messages). Intercultural coorientation is made problematic by the absence of certain shared communication system knowledge, which in same-culture interactions is used in the dynamic sociolinguistic negotiation of relational rights and obligations. We propose that the process of sociolinguistic negotiation of meanings relies fundamentally on probabilistic inference and have constructed a model based on Bayes' theorem. The model predicts the effects of the communication situation, communicator stereotypes and prejudice, and some other-culture speaker errors on conclusions the receiver draws about the message. Using the model, we distinguish between the ethnocentric error of interpreting a communication in terms of one's own culture and the error of not seeing the communication as diagnostic. Among our predictions are: (a) the less diagnostic the communication, the more impact cultural stereotypes will have on attributions; (b) although evidence of sociolinguistic incompetence sometimes causes misunderstanding, it sometimes prevents misunderstanding; (c) multiple consistent features make intentions clearer than would a single cue, but multiple features violating co-occurrence norms often lead to the attribution of incompetence. [source] Xiphograptus and the evolution of virgella-bearing graptoloidsPALAEONTOLOGY, Issue 2 2010JÖRG MALETZ Abstract:, The virgellar spine is one of the most consistent features of the graptolite sicula. It is present in a large number of graptoloid groups, but evolved separately and independently in these as it is seen from the presence of the spine in either ventral (Axonophora) or dorsal (Phyllograptus, Xiphograptus) position. The evolution of the virgellar spine in the Pan-Bireclinata in the Upper Dapingian to Lower Darriwilian time interval is known to follow four main steps, from a simple rutellum, through a lamelliform rutellum and a lanceolate virgella to the true virgellar spine. For the xiphograptids and in Phyllograptus, the origin and early development is less well documented, but appears to follow a similar path. However, the individual stages are condensed, and a true virgellar spine emerges already in the Floian time interval. A virgellar spine was found in Didymograptellus bifidus, necessitating a revision of the diagnosis of the genus Didymograptellus. A number of species of the virgellate genera Xiphograptus, Yutagraptus and Didymograptellus are described from isolated material for the first time. The species are useful for the biostratigraphic correlation of endemic mid-continent North American faunas with the Pacific Type faunal realm. Xiphograptus artus sp. nov., Didymograptellus primus sp. nov. and Didymograptellus cowheadensis sp. nov. from the Cow Head Group of western Newfoundland are described as new. [source] Anomalous Experiences Reported by Field Anthropologists: Evaluating Theories Regarding ReligionANTHROPOLOGY OF CONSCIOUSNESS, Issue 2 2002James McClenon Ph.D. Content analysis of published accounts of 40 anomalous experiences reported by anthropologists allows qualitative evaluationof elements within evolutionary theories pertaining to religion . The analysis supports findings from previous studies indicating that certain anomalous experienceshave cross-culturally consistent features. Narrative and structural features within the anthropologists' accounts coincide with those gathered in northeastern North Carolina and many other areas. The data also reveal the capacity of these episodes to transform belief, supporting an experiential source theory regarding faith in spirits, souls, life after death, and magical abilities. The narratives indicate that anomalous perceptions cause some anthropologists to consider novel theories. This study supports evolutionary explanations for the origin of religion and provides predictions regarding research directions in anthropology. [source] | ||||||||||||||||