PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available
Objectives:Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to diseasephenotypes. Alzheimer disease (AD) has high heritability...Full Text Available
Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 (maximum recombination fraction [{theta}{sub max}] = .006) with the polymorphic marker D1S188. Our data demonstrate that STGD and fundus flavimaculatus are the same disorder clinically and genetically and provide further evidence for genetic homogeneity of this phenotype. Analysis of recombination on disease chromosomes placed the STGD gene within a 4-cM interval between markers D1S435 and D1S236. A physical map was constructed of a YAC contig flanking STGD, from markers D1S500 to D1S495, and includes the critical ...
PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available
PurposeTo date there remains no effective therapy for metastatic melanoma and at the molecular level disease progression remains poorly understood. Recent work by...Full Text Available
Mouse lines with behavioral phenotypes relevant to symptoms in neurodevelopmental disorders may provide models to test hypotheses about disease etiology and to evaluate potential treatments....Full Text Available
Successful implementation of bone marrow transplantation for hematopoietic reconstitution is limited by the lack of suitably HLA-matched donors and by the occurrence of graft-versus-host disease that...Full Text Available
Epithelial-mesenchymal transition (EMT) has emerged in recent years as an important process in the development of organ fibrosis in many human diseases. Our previous experience in a nonhuman primate...Full Text Available
The genetic architecture of complex traits underlying physiology and disease in most organisms remains elusive. We still know little about the number of genes that underlie these traits, the magnitude...Full Text Available
Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the diseasephenotype can be predicted...Full Text Available
A plethora of experimental studies use mtDNA as a marker of demographic processes without questioning the possibility that selection may bias their interpretations. We studied four lines of Drosophila melanogaster that have a standardized nuclear DNA but variable mtDNA. We completed the sequencing of the mitochondrial genomes (excluding the A+T rich region) and compiled the differences. We then assayed male influence on oviposition, starvation resistance, lipid proportion and physical activity. We discuss these results in terms of the known differences between the lines and conclude that naturally occurring mtDNA variants in D. melanogaster are expressed at the level of the organismal phenotype. PMID:21757031
Background/AimsTo explore different definitions of intra-individual variability (IIV) to summarize performance on commonly utilized cognitive tests (Mini Mental State Exam; Clock...Full Text Available
BackgroundVariable platelet response to clopidogrel has been widely observed. Studies have shown that the mean aggregation response to clopidogrel can be changed...Full Text Available
According to classical concepts of physiologic control, healthy systems are self-regulated to reduce variability and maintain physiologic constancy. Contrary to the predictions of homeostasis, however,...Full Text Available
Study objectiveThe study aim was to improve our understanding of the relationships between contextual socioeconomic characteristics and coronary heart disease (CHD)...Full Text Available
BackgroundTraditionally in pediatric HIV, the CD4+ T-lymphocyte percent is used in monitoring disease progression due to the variability in absolute CD4+ T-lymphocyte...Full Text Available
The deregulated kinase activity of p210-BCR/ABL oncoproteins, hallmark of chronic myelogenous leukaemia (CML), induces and sustains the leukaemic phenotype, and contributes to disease progression....Full Text Available
APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available
Phenotypic plasticity can facilitate reproductive strategies that maximize mating success in variable environments and lead to differences in sex allocation among populations. For simultaneous hermaphrodites with sperm competition, including Serranus tortugarum a small coral reef fish, proportional male allocation (testis in total gonad) is often greater where local density or mating group size is higher. We tested whether S. tortugarum reduced male allocation when transplanted from a higher density site to a lower density site. After 4?months, transplants mirrored the sex-allocation patterns of the resident population on their new reef. Transplants had significantly lower male allocation than representatives from their source population, largely as a result of reduced testis mass relative...
Summary 1. Plants express multiple defensive traits, but little is known about the genetic stability and phenotypic plasticity of these traits in nature. To investigate sources of variation and their potential ecological consequences for herbivores, we combined field observations of cyanogenic lima bean with laboratory experiments. 2. Field studies in South Mexico revealed a distinct variability of cyanogenic traits within and among wild lima bean populations. To differentiate among genetic variation and the impact of ambient conditions on plant phenotypes, we used seed grown plants as well as clones propagated from high (HC) and low cyanogenic (LC) wild type plants. 3. In growth chamber experiments, we cultivated plants under three intensities each of drought and salt stress, nutrient sup...
Abstract Tumor necrosis factor (TNF)- is a pro-inflammatory cytokine associated with psoriasis pathogenesis. Anti-TNF- therapies are effective in psoriasis. A significant weight gain has been reported in patients treated with anti-TNF- agents. The aim of the present study was to evaluate the body composition changes in psoriatic patients receiving anti-TNF- therapies according with diseasephenotype. Forty patients affected with psoriasis were followed up for 24 weeks and divided into two groups: psoriasis vulgaris (PsO) and psoriatic arthritis (PsA). Anthropometric, blood biochemical, body composition parameters, resting metabolic rate, and disease activity indexes were measured at baseline and at week 24. After 24 weeks of anti-TNF- administration, the disease activity indexes and concen...
Information from the Health Assessment Questionnaire (HAQ) is used to identify which variables measured in 1981 successfully predict the severity of disease in 1989 and the eight year change in severity...Full Text Available
BackgroundMost analyses of spatial clustering of disease have been based on either residence at the time of diagnosis or current residence. An underlying assumption in these analyses...Full Text Available
Antiplatelet resistance has been proposed as a possible mechanism to explain recurrent cardiovascular events in patients who have coronary artery disease and who are undergoing dual antiplatelet therapy....Full Text Available
Cystic fibrosis (CF) is a monogenic disease characterized by a high variability of disease severity and outcome that points to the role of environmental factors and modulating genes that shape the course...Full Text Available
Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested ...
These summary descriptive data of ethnically similar cohorts of indigenous and migrant Japanese males have shown similarities or slight differences in characteristics wholly or largely genetically determined, such as blood groups, stature, and skeletal size. Differences have been noted in characteristics largely environmental or behavioral, such as diet and cigarette smoking habit, as well as in characteristics determined by a varying mixture of genetic and environmental influences, such as weight, blood pressure, glucose tolerance, and serum lipid and uric acid levels. Detailed analyses of the distributions of laboratory variables, of dietary data obtained by different methods, and of correlations among laboratory, dietary, physical, and demographic variables are currently in progress. Also part of the study plan are determinations of disease prevalence from evaluation of examination, laboratory, and electrocardiographic ...
Exponentially growing biological and bioinformatics data sets present a challenge and an opportunity for researchers to contribute to the understanding of the genetic basis of phenotypes. Due to breakthroughs in microarray technology, it is possible to simultaneously monitor the expressions of thousands of genes, and it is imperative that researchers have access to the clinical data to understand the genetics and proteomics of the diseased tissue. This technology could be a landmark in personalized medicine, which will provide storage for clinical and genetic data in electronic health records (EHRs). In this paper, we explore the computational and ethical challenges that emanate from the intersection of bioinformatics and healthcare informatics research. We describe the current situation of the EHR and its capabilities to store clinical and genetic data and then discuss the Genetic Information Nondiscrimination Act. Finally, we posit that the ...
Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...
Objective: Atherosclerosis is an inflammatory disease, modulated by plaque stabilizing and de-stabilizing cell populations such as infiltrating monocytes and vascular smooth muscle cells (vSMCs). Transcription factors regulating proliferation and differentiation of atherosclerosis relevant cell types are of interest in this context. The forkhead box transcription factor FoxP1 modulates monocyte differentiation. We studied FoxP1 expression in atherosclerotic tissue, correlated FoxP1 expression with plaque characteristics and identified associations between FoxP1 and plaque proteins. Methods: 116 Atherosclerotic plaques from carotid endarterectomy samples were histologically classified (fibrous, fibroatheromatous, atheromatous) and subjected to semi-quantitative protein analysis. Macrophage,...
Individual strains of the plant pathogenic bacterium Pseudomonas syringae vary in their ability to produce toxins, nucleate ice, and resist antimicrobial compounds. These phenotypes...Full Text Available
Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) is a genetic disorder with autosomal dominance, variable penetrance, and an estimated prevalence of 1/10,000 inhabitants in France. Diagnosis is based on clinical criteria including epistaxis, telangiectasia, visceral manifestations, and familial occurrence. Pulmonary arteriovenous malformations, present in 15-33% of patients, are its primary visceral complications. The disease may be revealed by infectious and ischemic neurological manifestations due to paradoxical embolism. The high frequency of neurologic complications even in asymptomatic patients justifies systematic screening for pulmonary arteriovenous malformations. Treatment of these malformations is based on percutaneous transcatheter coil embolization of the feeding artery. Pulmonary arterial hypertension is rare in this disease. It may be due to systemic arteriovenous shunting ...
DescriptionThe main objective of the project is to develop a range of underpinning plant resources together with information about the level of genetic variability they represent, in a form suitable for use in crop improvement research in vegetable brassicas, lettuce and onion. The proposed research addresses Defra's requirement for a crop improvement programme to underpin research programmes aimed at Pest and Disease Control, Plant Nutrition and Quality in field vegetables at HRI. We will produc [continued...
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with this mutation, suggesting that even in this population there is ...
In mammals and insects, paracellular blood barriers isolate the nervous system from the rest of the animal. Glia and accessory cells of the nervous system use pumps, channels, cotransporters, and exchangers collectively to maintain the extracellular ion environment and osmotic balance in the nervous system. At present, the molecular mechanisms that regulate this process remain unclear. In humans, loss of extracellular ion and volume regulation in the nervous system poses serious health threats. Drosophila is a model genetic organism with a proven track record for uncovering molecular mechanisms relevant to human health and disease. Here, we review what is known about extracellular ion and volume regulation in larval abdominal nerves, present some new data about the impact of neural activity on the extracellular environment, and relate the findings to mammalian systems. Homologies have been found at the level of morphology, physiology, molecular mechanisms, and ...
Through DNA methylation, histone modifications, and small regulatory RNAs the epigenome systematically controls gene expression during development, both in utero and throughout life. The epigenome is also a very reactive system; its labile nature allows it to sense and respond to environmental perturbations to ensure survival during fetal growth. This pliability can lead to aberrant epigenetic modifications that persist into later life and induce numerous disease states. Endocrine-disrupting compounds (EDCs) are ubiquitous chemicals that interfere with growth and development. Several EDCs also interfere with epigenetic programming. The investigation of the epigenotoxic effects of bisphenol A (BPA), an EDC used in the production of plastics and resins, has further raised concern over the impact of EDCs on the epigenome. Using the Agouti viable yellow (A(vy)) mouse model, dietary BPA exposure was shown to hypomethylate both the A(vy) and the Cabp(IAP) metastable ...
Whereas genetic factors are known to influence both susceptibility to carcinogens and the capacity to respond to specific antigenic stimuli, little is known regarding the influence of phenotype per...Full Text Available
The flacca tomato (Lycopersicon esculentum) mutant displays a wilty phenotype as a result of abscisic acid (ABA) deficiency. The Mo cofactor (MoCo)-containing aldehyde...Full Text Available
Developing in vitro engineered hepatic tissues that exhibit stable phenotype is a major challenge in the field of hepatic tissue engineering. However, the rapid dedifferentiation of...Full Text Available
Although the majority of men presenting with non-seminomatous germ cell tumours (NSGCT) are cured, late relapse (occurring more than 2 years after obtaining a complete response to treatment) is increasingly recognized. The typical patterns of disease spread have been well-documented, but the findings at late relapse are more variable and less well-described. We discuss the phenomenon of late relapse, the characteristics of teratoma differentiated (TD), and the issue of long-term imaging surveillance of patients with NSGCT. The potential sites of late relapse of NSGCT and the associated spectrum of imaging appearances are illustrated.
Although the majority of men presenting with non-seminomatous germ cell tumours (NSGCT) are cured, late relapse (occurring more than 2 years after obtaining a complete response to treatment) is increasingly recognized. The typical patterns of disease spread have been well-documented, but the findings at late relapse are more variable and less well-described. We discuss the phenomenon of late relapse, the characteristics of teratoma differentiated (TD), and the issue of long-term imaging surveillance of patients with NSGCT. The potential sites of late relapse of NSGCT and the associated spectrum of imaging appearances are illustrated.
Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.
The purpose of this study was to examine the relationship between histomorphometric variables of cancellous bone structure and ultimate compressive strength (UCS) in the second lumbar vertebra (L2) and to determine whether structural variables in the iliac crest are predictive of the same variables and of UCS in L2. At autopsy, 7.5 mm diameter cores were removed from the iliac crest and from L2 of 29 subjects who had died suddenly without bone disease. Cancellous bone volume (BV/TV, %) was significantly lower in L2 than in iliac crest due to lower trabecular number (Tb.N, per mm) and thickness (Tb.Th, microns). There were significant correlations between iliac crest and L2 for BV/TV, Tb.N and trabecular separation (Tb.Sp, microns), but not for Tb.Th. BV/TV was negatively correlated, and Tb.Sp was positively correlated with age at both sites. Tb.Th was not significantly correlated with age in the iliac ...
Exposure to crystalline silica dust causes multiple diseases, but silicosis and silica dust-associated tuberculosis (TB), in particular, are the two diseases that remain high on the list of occupational health priorities in low-income countries and that still occur in some high-income countries. The prevalence of silica-related TB is exacerbated by the human immunodeficiency virus (HIV) epidemic in low-income countries. This review describes the morphology of silica and the variable potency of the different forms. Sources of crystalline silica are discussed, with emphasis on less commonly recognised sources, such as small-scale mining operations and agriculture. Trends in the prevalence of silicosis are also presented. Although efforts have been made for many years in most countries to reduce silica dust levels, silicosis continues to occur even in young people. The clinical and pathological features and diagnosis of ...
To determine MTRs for normal structures and benign diseases in the breast two-dimensional magnetization transfer imaging was performed in 62 patients and in 3 young female volunteers. With regard to the MTRs of measurements in the normal breast tissues, fat tissues which is close to simple cysts in MTRs show little transfer of longitudinal magnetization. MTRs of the muscles was 15.15{+-}6.22%, which exceeded those of breast parenchyma. The breast parenchyma didn`t show the change of MTR value due to the difference of patient age and due to variable amount of fat and fibrous tissues. Breast parenchyma in the two young volunteers clearly showed biphasic change of MTR values in accordance with the menstrual cycle; little transfer value was due to hydration in the postovulatory period and high transfer value was due to dehydration in the preovulatory period. In the remaining one volunteer during lactation period, mammary parenchyma shows sever ...
Maternal exposure to ambient air pollution has increasingly been linked to adverse pregnancy outcomes. The evidence linking this exposure to congenital anomalies is still limited and controversial. This case-control study investigated the association between maternal exposure to ambient particulate matter with aerodynamic diameter less than 10 ?m (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide, nitric oxide (NO), ozone (O(3)), and carbon monoxide (CO) and the occurrence of congenital heart disease in the population of Northeast England (1993-2003). Each case and control was assigned weekly average (weeks 3-8 of pregnancy) of pollutant levels measured by the closest monitor to the mother's residential postcode. Using exposure as both continuous and categorical variables, logistic regression models were constructed to quantify the adjusted odds ratios of exposure to air pollutants and the occurrence of each outcome group. We found exposure to ...
Neuronal transcription factors play vital roles in the specification and development of neurons, including dopaminergic (DA) neurons. Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause the resulting intractable and largely untreatable neurological impairment of Lesch-Nyhan disease (LND). The disorder is associated with a defect in basal ganglia DA pathways. The mechanisms connecting the purine metabolic defect and the central nervous system (CNS) phenotype are poorly understood but have been presumed to reflect a developmental defect of DA neurons. We have examined the effect of HPRT deficiency on the differentiation of neurons in the well-established human (NT2) embryonic carcinoma neurogenesis model. We have used a retrovirus expressing a small hairpin RNA (shRNA) to knock down HPRT gene expression and have examined the expression of a number of transcription factors ...
Half a century is fast approaching since Hayflick and colleagues formally described the limited ability of normal human cells to proliferate in culture (Hayflick and Moorhead, 1961). This finding--that normal somatic cells, in contrast to cancer cells, cannot divide indefinitely--challenged the prevailing idea that cells from mortal multicellular organisms were intrinsically ''immortal'' (Carrell, 1912). It also spawned two hypotheses, essential elements of which persist today. The first held that the restricted proliferation of normal cells, now termed cellular senescence, suppresses cancer (Hayflick, 1965; Sager, 1991; Campisi, 2001). The second hypothesis, as explained in the article by Lorenzini et al., suggested that the limited proliferation of cells in culture recapitulated aspects of organismal aging (Hayflick, 1965; Martin, 1993). How well have these hypotheses weathered the ensuing decades? Before answering this question, we first consider ...
Data from 52 litters farrowed in two seasons of a cross-fostering experiment were analyzed to estimate variances and covariances for additive direct and maternal genetic effects on immune response to pseudorabies virus and B. bronchiseptica vaccine. Twenty purebred boars and 44 sows of the Duroc, Landrace and Yorkshire breeds were used. Immune response was measured after vaccine challenge. A modified-live pseudorabies (PR) vaccine was administered to piglets at 28 d of age; response was measured by log2 serum neutralization titers at 56 d. An inactivated B. bronchiseptica bacterin was administered at 28, 42 and 112 d. Antibody levels were measured relative to positive and negative controls at 28, 56 and 119 d by using an enzyme-linked immunosorbent assay (ELISA). Results from this study for heritability were .18 +/- .09 for PR titer and .15 +/- .07 and .52 +/- .15 for 56- and 119-d ELISA values, respectively. The variability due to nurse environment (maternal ...
Lentiviral vectors (LVs) have emerged as potent and versatile vectors for ex vivo or in vivo gene transfer into dividing and nondividing cells. Robust phenotypic correction...Full Text Available
Synthetic polymers and nanomaterials display selective phenotypic effects in cells and in the body that affect signal transduction mechanisms involved in inflammation, differentiation, proliferation,...Full Text Available
... growth hormone-like factor from plerocercoids of the tapeworm Spirometra mansonoides is a multifunctional protein. In Parasites and pathogens: ... ...
BackgroundRecent studies have shown associations between size and body proportions at birth and health outcomes throughout the life cycle, but there are few data...Full Text Available
Purpose.There is a paucity of neuron replacement studies for retinal ganglion cells. Given the complex phenotype of these neurons, replacement of ganglion cells may be impossible....Full Text Available
In natural ecosystems, hundreds of species typically share the same environment and are connected by a dense network of interactions such as predation or competition for resources. Much is known about...Full Text Available
Mutations in the Drosophila gene drop-dead (drd) result in early adult lethality and neurodegeneration, but the molecular identity of the drd...Full Text Available
We report the isolation of adherent, clonogenic, fibroblast-like cells with osteogenic and adipogenic potential from the blood of four mammalian species. These cells phenotypically resemble but are...Full Text Available
Transparency is essential for normal corneal function. Recent studies suggest that corneal cells express high levels of so-called corneal crystallins, such as aldehyde dehydrogenase (ALDH) and transketolase (TKT) that contribute to maintaining cellular transparency. Stromal injury leads to the appearance of repair phenotype keratocytes, the corneal fibroblast and myofibroblast. Previous studies on keratocytes from species such as bovine and rabbit indicate that the transformation from the normal to repair phenotype is accompanied by a loss of corneal crystallin expression, which may be associated with loss of cellular transparency. Here we investigated if a similar loss occurs with human keratocyte repair phenotypes. Human corneal epithelial cells were collected by scraping and keratocytes...
Several scientists have proposed that DNA repair deficiencies and the induction of a mutator phenotype are responsible for the generation of multiple mutagenic alterations in cancer cells. I propose...Full Text Available
Abstract The overstory of the jarrah forest is dominated by Jarrah (Eucalyptus marginata) with a smaller proportion of Marri (Corymbia calophylla). There are also several smaller tree species in the areas where Alcoa mines. Alcoa's restoration aims to restore all these species at densities similar to the unmined forest. This paper describes the establishment, survival, and growth of these trees with particular focus on Jarrah. Factors affecting the growth and form of Jarrah are also discussed. Establishment of Jarrah from seed in restored sites is variable (mean 10%), and once established, survival is high over two summer droughts (96%) and still high (mean 83%) after about a decade regardless of the presence of the Jarrah dieback disease Phytophthora cinnamomi. High establishment densitie...
The authors report an effort to determine the basis for the altered migration of seven inherited albumin variants detected by one-dimensional electrophoresis in population surveys involving tribal Amerindians and Japanese children. An amino acid substitution has thus far been determined for four of the variants. The randomness in the albumin polypeptide of these and the other sixteen independently ascertained amino acid substitutions of albumin and proalbumin thus far established was analyzed; the clustering of eight of these at two positions in the six-amino acid propeptide sequence seems noteworthy. By comparison with other proteins studied by electrophoresis, albumin exhibits average variability. It is a paradox that individuals who, for genetic reasons, lack albumin exhibit no obvious ill effects; yet, electrophoretic variants of albumin are no more numerous than are variants of proteins, the absence of which results in severe disease.
The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the entire region in a contig established by YAC ...
The complete nucleotide sequence of the cap3A gene of Streptococcus pneumoniae, which is directly responsible for the transformation of some unencapsulated, serotype 3 mutants to the encapsulated phenotype,...Full Text Available
Long-term heat acclimation (AC, 30d/34°C) is a phenotypic adaptation leading to increased thermotolerance during heat stress (HS, 2 h 41°C). AC also renders protection against...Full Text Available
IntroductionThe phenotypic and functional differences between cells that initiate human breast tumors (cancer stem cells) and those that comprise the tumor bulk are difficult to...Full Text Available
G6PD activity was assayed in 20 Sardinian heterozygotes for G6PD deficiency and related to that of LDH and MDH. One of these heterozygotes showed a deficient phenotype in all her follicles, while the...Full Text Available
Four new mutants are described whose phenotypic expression affects the length of the head of bacteriophage T4D. All mutants produce some phenotypically normal phage particles. Mutant pt21-34...Full Text Available
In Experiment I, lever pressing by squirrel monkeys was maintained under a sequence of variable-interval, multiple variable-interval variable-interval, and multiple variable-interval extinction schedules...Full Text Available
Good performance in extended lactations of dairy cattle may have a beneficial effect on food costs, health, and fertility. Because data for extended lactation performance is scarce, lactation persistency has been suggested as a suitable selection criterion. Persistency phenotypes were calculated in several ways: P1 was yield relative to an approximate peak, P2 was the slope after peak production, and P3 was a measure derived to be phenotypically uncorrelated to yield and calculated as a function of linear regressions on test-day deviations of days in milk. Phenotypes P1, P2, and P3 were calculated for sires as solutions estimated from a random regression model fitted to milk yield. Because total milk yield, calculated as the sum of daily sire solutions, was correlated to P1 and P2 (r=0.30 ...
Purpose.To evaluate morphologic and functional contributions of Arrestin 1 (Arr1) and Arrestin 4 (Arr4) in cone photoreceptors, the authors examined the phenotypes of visual arrestin...Full Text Available
Extending genome wide association analysis by the inclusion of gene expression data may assist in the dissection of complex traits. We examined piebald, a pigmentation phenotype in both human and Merino...Full Text Available
Molecular Misreading (MM) is the inaccurate conversion of genomic information into aberrant proteins. For example, when RNA polymerase II transcribes a GAGAG motif it synthesizes at low frequency RNA...Full Text Available
Synthetic gene networks can be used to control gene expression and cellular phenotypes in a variety of applications. In many instances, however, such networks can behave unreliably due to gene expression...Full Text Available
In addition to the well documented role of cytokines in mediating tissue-level interactions, it is now clear that matrix macromolecules fulfil a complementary regulatory function. Data highlighted in...Full Text Available
Materials and MethodsThe genomic effects of tumor-endothelial interactions in cancer are not yet well characterized. To study this interaction in breast...Full Text Available
BackgroundPerichondrium is recognized as a tissue with chondrogenic potential yielding cells which can be used for osteochondral repair. Factors which influence the proliferative...Full Text Available
Depleted uranium (DU) is a dense heavy metal used primarily in military applications. Although the health effects of occupational uranium exposure are well known, limited data exist regarding the long-term...Full Text Available
Eukaryotic genome size varies over five orders of magnitude; however, the distribution is strongly skewed toward small values. Genome size is highly correlated to a number of phenotypic traits, suggesting...Full Text Available
BackgroundActivation of the signal transducer and activator of transcription 3 (STAT3) within antigen presenting cells (APCs) is linked to abnormal APCs differentiation and function....Full Text Available
The Arabidopsis ref2 mutant was identified in a screen for plants having altered fluorescence under UV light. Characterization of the ref2 mutants showed that they...Full Text Available
The purpose of this study was to determine the occurrence and genotypic relatedness of Salmonella enterica isolates recovered from feed and fecal samples in commercial swine production...Full Text Available
We previously reported that global deletion of insulin receptor substrate protein 1 (Irs1) extends lifespan and increases resistance to several age-related pathologies in female mice....Full Text Available
Genomic disorders are conditions that result from DNA rearrangements, such as deletions or duplications. The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is...Full Text Available
... Fluctuating Incubation Temperatures in the Multi-banded Krait, Bungarus multicintus (Elapidae)Xiang Ji1,2,*, Jian-Fang Gao1, ... rather than applying constant-temperature regimes. We incubated Bungarus mu...
Toxicogenomics provides the ability to examine in greater detail the underlying molecular events that precede and accompany toxicity, thus allowing prediction of adverse events at much earlier...Full Text Available
OBJECTIVENicotinamide adenine dinucleotides (NAD+ and NADH) play a crucial role in cellular energy metabolism, and a dysregulated NAD+-to-NADH ratio is implicated...Full Text Available
The epigenome consists of non–sequence-based modifications, such as DNA methylation, that are heritable during cell division and that may affect normal phenotypes and predisposition...Full Text Available
About 20% of adults are persistently colonized with S. aureus in the anterior nares. Host genetic factors could contribute susceptibility to this phenotype. The objective of...Full Text Available
Ever since the pre-molecular era, the birth of new genes with novel functions has been considered to be a major contributor to adaptive evolutionary innovation. Here, I review the origin and evolution...Full Text Available
The imaging analytical capabilities of laser scanning cytometer (LSC) have been used to assess morphological features considered to be typical of the senescent phenotype. The characteristic “flattening”...Full Text Available
BackgroundMutations that impair mitochondrial functioning are associated with a variety of metabolic and age-related disorders. A barrier to rigorous tests of the role of mitochondrial...Full Text Available
Wild-type viruses from the ViroLogic phenotype-genotype database were evaluated to determine the upper confidence limit of the drug susceptibility distributions, or “biological cutoffs,”...Full Text Available
E-cadherin is the primary cell adhesion molecule within the epithelium, and loss of this protein is associated with a more aggressive tumour phenotype and poorer patient prognosis in many cancers. Loss...Full Text Available
Purpose: Small animal micro-CT imaging is being used increasingly in preclinical biomedical research to provide phenotypic descriptions of genomic models. Most of this imaging is coincident...Full Text Available
Epithelial-mesenchymal transition (EMT), a switch of polarized epithelial cells to a migratory, fibroblastoid phenotype, is considered a key process driving tumor cell invasiveness and metastasis....Full Text Available
The development of azole resistance in Candida albicans is most problematic in patients with AIDS who receive long courses of drug for therapy or prevention of oral candidiasis. Recently,...Full Text Available
Insulin resistance in skeletal muscle is a key phenotype associated with type 2 diabetes (T2D) for which the molecular mediators remain unclear. We therefore conducted an expression analysis of human...Full Text Available
Life history theory proposes that early-life cues induce highly integrated responses in traits associated with energy partitioning, maturation, reproduction, and aging such that the individual phenotype...Full Text Available
Stem cells of the human prostate gland have not yet been identified utilizing a structural biomarker. We have discovered a new prostatic epithelial cell phenotype-expressing cytokeratin 6a (Ck6a+...Full Text Available
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available
The supramammillary nucleus (SuM) provides substantial projections to the hippocampal formation. This hypothalamic structure is involved in the regulation of hippocampal theta rhythm and therefore...Full Text Available
BackgroundSize and body proportions at birth are partly determined by maternal body composition, but most studies of mother-baby relationships have only considered...Full Text Available
Mood and anxiety disorders and rodent phenotypic measures modeling these disorders have a strong genetic component. Various assays are used to study the neurobiological basis of fear- and anxiety-related...Full Text Available
The murine cytomegalovirus (MCMV) M33 gene is conserved among all betaherpesviruses and encodes a homologue of seven-transmembrane receptors (7TMR) with the capacity for constitutive signaling. Previous...Full Text Available
Gene expression data has been used in lieu of phenotype in both classical and quantitative genetic settings. These two disciplines have separate approaches to measuring and interpreting epistasis, which...Full Text Available
Fluctuating asymmetry (FA) has been widely used as a stress-related phenotypic marker of developmental instability. However, previous studies relating FA to various stressful conditions have produced...Full Text Available
BackgroundNF-κB is a survival signaling transcription factor complex involved in the malignant phenotype of many cancers, including squamous cell carcinomas (SCC). The citrus...Full Text Available
Japanese medaka (Oryzias latipes) embryos exposed to ethanol have developed craniofacial, cardiovascular and skeletal defects which can be compared with the phenotypic features...Full Text Available
Uncoupling protein 2 (UCP2) maps to a region on distal mouse chromosome 7 that has been linked to the phenotypes of obesity and type II diabetes. We recently reported that UCP2 expression is increased...Full Text Available
Metazoan life cycles can be complex in different ways. A number of diverse phenotypes and reproductive events can sequentially occur along the cycle, and at certain stages a variety of developmental...Full Text Available
A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological...Full Text Available
A strain from human diarrhea originally identified as Campylobacter mucosalis (NCTC 12408) was examined by using 64 phenotypic characters. The similarity of this strain to 297 isolates of Campylobacter,...Full Text Available
Mechanisms for differential regulation of gene expression may underlie much of the phenotypic variation and adaptability of malaria parasites. Here we describe transcriptional variation among culture-adapted...Full Text Available
SummaryDNA-based tests are increasingly being used to predict a blood group phenotype. This is possible because genes encoding 29 of the 30 blood group systems have been cloned and sequenced,...Full Text Available
Skin and hair phenotypes are powerful cues in human communication. They impart much information, not least about our racial, ethnic, health, gender and age status. In the case of the latter parameter,...Full Text Available
BackgroundBlood group O has been significantly associated with increased placental malaria infection in primiparae and reduced risk of infection in multiparae in the Gambia, an area...Full Text Available
Human arylamine N-acetyltransferase (NAT) activity is determined by two distinct genes, NAT1 and NAT2, and the classical acetylation polymorphism in NAT2 has been associated with a variety of disorders,...Full Text Available
The synovial and bone uptake of tracer in the knees of patients with rheumatoid arthritis (RA) was quantified using {sup 99}Tc{sup m}-hexamethyl propylene amine oxime-labelled leucocytes and {sup 99}Tc{sup m}-methylene diphosphonate (MDP), respectively. Significant neutrophil migration and MDP uptake occurred in the knees of patients with RA irrespective of the disease duration. In all but one patient neutrophil migration was reduced after intra-articular steroid injection. The change in MDP uptake after steroid injection was variable. There was a significant correlation between the percentage reduction in neutrophil migration and pain score, while the latter correlated poorly with the change in MDP uptake. The quantification of the neutrophil component of the inflammatory process is a sensitive index for monitoring RA activity and response to pharmacological interventions, while quantitative bone scintigraphy should not be employed to monitor ...
The synovial and bone uptake of tracer in the knees of patients with rheumatoid arthritis (RA) was quantified using "9"9Tc"m-hexamethyl propylene amine oxime-labelled leucocytes and "9"9Tc"m-methylene diphosphonate (MDP), respectively. Significant neutrophil migration and MDP uptake occurred in the knees of patients with RA irrespective of the disease duration. In all but one patient neutrophil migration was reduced after intra-articular steroid injection. The change in MDP uptake after steroid injection was variable. There was a significant correlation between the percentage reduction in neutrophil migration and pain score, while the latter correlated poorly with the change in MDP uptake. The quantification of the neutrophil component of the inflammatory process is a sensitive index for monitoring RA activity and response to pharmacological interventions, while quantitative bone scintigraphy should not be employed to monitor changes in joint ...
Introduction: Thalassemia is the most common hereditary blood disorder in the world. Iran is located on the thalassemic belt and there is a high prevalence of the hepatosplenomegaly in beta thalassemia minor patients which is reported to be very variable. The goal of this research was to study the frequency of these signs in the cases with beta thalassemia minor patients in Iran. Materials and methods: Two hundred and fifty-nine cases that referred to center for pre-marriage tests were divided into two groups according to their MCV, MCH, and HbA2 (beta thalassemia minor cases and control groups). Liver and spleen sizes were determined by ultrasonographic method and the two groups were compared with each other. Results: Average spleen volumes in case and control groups were 163.48 {+-} 133.97 and 126.29 {+-} 53.98 mm{sup 3}, respectively. Average spleen lengths in case and control groups were 10.71 {+-} 1.52 and 10.60 {+-} 5.4 cm, respectively. Conclusion: In the ...
Aging is the most significant risk factor for a range of degenerative disease such as cardiovascular, neurodegenerative and metabolic disorders. While the cause of aging and its associated diseases...Full Text Available
Aging is a biological process that affects most cells, organisms and species. Human aging is associated with increased susceptibility to a variety of chronic diseases, including cardiovascular disease,...Full Text Available
Coronary angiography provides anatomical information whereas thellium myocardial scintigraphy measures resistive tissue perfusion. Because of this fundamental difference. The authors question the validity of using coronary angiography as the gold standard to judge thellium myocardial scintigraphy. The authors studied 20 patients undergoing elective percutaneous coronary angioplasty who fulfilled the following criteria: (1) history of chest pain; (2) angiographically significant single vessel disease (>50% stenosis); (3) no prior myocardial infarction. All patients underwent maximal exercise thallium single photon emission computed tomography (T1-SPECT). Tl-SPECT was scored visually according to a 0 to 3 scale (0=absent uptake; 1=markedly decreased uptake; 2=minimally decreased uptake; 3=normal uptake). Translesional gradient and percent stenosis were measured before and after angioplasty. The authors found that significant linear relationship exists between ...
Summary.? Measuring von Willebrand factor (VWF) activity is essential to the diagnosis of von Willebrand disease (VWD). The VWF activity is usually assessed based on measurement of the ristocetin cofactor (VWF:RCo). However, that test is technically challenging and has high intra- and inter-assay variabilities. The HemosIL VWF activity (VWF:AC) is a fully automated assay, recently proposed as a good alternative to VWF:RCo for VWD diagnosis. This study was undertaken to assess this new method. First, the analytical performance of VWF:AC on an automated coagulo-meter (ACLTop) was determined, and then this new method was compared with VWF:RCo and the platelet function analyzer (PFA100) for 160 patients referred for VWD screening. The VWF:AC achieved acceptable precision with within-run and between-run coefficients of variation ranging from 2.3% to 14.1%, and linearity from 10% to 100%. Despite some marked differences between VWF:AC and VWF:RCo for ...
The accurate measurement of a stress level is one of the most important issues in a stress diagnosis and its measurement could be of great value in clinical medicine. Stress has a potent effect on the spirit and physical condition of an individual. There are various methods available for its measurement. Some of the commonly used techniques for the diagnosis of a stress level include analysis of the body fluids, questionnaire assessments, psychophysiological evaluations and by determining heart rate variability (HRV) of subjects. However, the existing diagnostic methods have several defects like, a low sensitivity, inaccuracy and long of operation time. In this report, we present a diagnostic technology to detect a stress level which is the origin of various diseases. This method can be of great help in providing an early diagnosis through a biosensor and might play a vital role in preventing diseases like hypochondria and ...
We consider chemical reaction networks taken with mass action kinetics. The steady states of such a system are solutions to a system of polynomial equations. Even for small systems the task of finding the solutions is daunting. We develop an algebraic framework and procedure for linear elimination of variables. The procedure reduces the variables in the system to a set of "core" variables by eliminating variables corresponding to a set of non-interacting species. The steady states are parameterized algebraically by the core variables, and a graphical condition is given for when a steady state with positive core variables necessarily have all variables positive. Further, we characterize graphically the sets of eliminated variables that are constrained by a conservation law and show that this conservation law takes a ...
Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases...Full Text Available
Heart disease, cancer, and cerebrovascular disease together cause more than two out of three deaths in the United States annually. These three diseases are largely a result of widespread risk factors...Full Text Available
...Advances in Chronic Kidney Disease-The purpose of Advances Chronic Kidney Disease is to provide in-depth, scholarly review articles about the care and mana ... Advances in Chronic Kidney Disease - Elsevier Home Products User Resources About Us Support & Contact Elsevier Websites Advanced Product ...Search Browse Journals Advances in Chronic Kidney Disease Advances in Chronic Kidney Disease Additional Information Related Publications Editorial Board Journal Online e- Alert Readers ...year: 6 Tips Title This is my tip content Visit Advances in Chronic Kidney Disease Online! The purpose of Advances Chronic Kidney Disease is ...
We analyzed the phenotypic variation of baobab (Adansonia digitata L.) fruits from Mali to define the domestication potential of this species. 269 trees, selected from 10 provenances distributed along a rainfall gradient, were characterized. Five fruits were sampled from each tree. Total individual fruit weight was partitioned into shell, pulp, and seed weight. Ratios were calculated between pulp?+?seed and total weight, and between pulp and seed weight. For all the measured fruit traits, we detected significant differences between provenances, as well as between trees from the same provenance. Assuming that the measured traits are under genetic control, the latter facts indicate that there are considerable opportunities for tree selection on a local scale. However, candidate plus trees wi...
Parasites display considerable phenotypic plasticity in life-history traits such as, body size. Varroa destructor is an ectoparasitic mite of the western honey bee Apis mellifera. Several studies have reported that in V. destructor, there is a wide phenotypic plasticity within a population of mites. However, it is unknown if there are morphologic variations in V. destructor populations affecting different A. mellifera populations. A morphometric study of V. destructor populations was conducted to provide information concerned to the relationships among parasite populations found in different geographic locations from A. mellifera colonies of Argentina. The hypothesis tested was different morphotypes of V. destructor populations parasitizing different A. mellifera populations from Argentina...
This document consist of brief reports prepared by postdoctoral students supported by the project, each describing his accomplishments under the grant. Topics include (1) Malignant Transformation of MSU-1. 1 Cells by Gamma Radiation, (2) Correlation between Levels of ras Expression and Presence of Transformed Phenotypes Including Tumorigenicity, Using a Modulatable Promoter, (3) Relation between Specific rad Oncogene Expression, (4) Correlation of Genetic Changes in Fibroblastic Tumors with Malignancies, (5)Transformation of MSU-1.1 Cells by sis Oncogene, (6) Malignant Transformation of MSU-1.0 Cells, (7) Correlation of Urokinase Plasminogen Activation (mu-PA) with Malignant Phenotype, (8)Two Dimensional Gel Electrophoresis Studies of the Proteins of the Major Cell Strains of the MSU-1 Family of Cells, and (9) Correlation between Proteinase Activity Levels and Malignancy.
Through an unusual differentiation process, human trophoblast progenitors (cytotrophoblasts) give rise to tumor-like cells that invade the uterus. By an unknown mechanism, invasive cytotrophoblasts exhibit permanent cell cycle withdrawal. Here we report molecular cytogenetic data showing that {approx} 20 to 60 percent of these interphase cells had acquired aneusomies involving chromosomes X, Y, o r16. The incidence positively correlated with gestational age and differentiation to an invasive phenotype. Scoring 12 chromosomes in flow-sorted cytotrophoblasts showed that more than 95 percent of the cells were hyperdiploid. Thus, aneuploidy appears to be an important component of normal placentation, perhaps limiting the proliferative and invasive potential of cytotrophoblasts within the uterus.
Abstract Gelatinization temperature (GT) is an important parameter in evaluating the cooking and eating quality of rice. Indeed, the phenotype, biochemistry and inheritance of GT have been widely studied in recent times. Previous map-based cloning revealed that GT was controlled by ALK gene, which encodes a putative soluble starch synthase II-3. Complementation vector and RNAi vector were constructed and transformed into Nipponbare mediated by Agrobacterium. Phenotypic and molecular analyses of transgenic lines provided direct evidence for ALK as a key gene for GT. Meanwhile, amylose content, gel consistency and pasting properties were also affected in transgenic lines. Two of four nonsynonymous single nucleotide polymorphisms in coding sequence of ALK were identified as essential for GT. ...
Attention is given to the folowing topics: population I and II variable stars; LP variables, the sun, and mass determination; and predegenerate and degenerate variables. Particular papers are presented on alternative evolutionary approaches to the absolute magnitude of the RR Lyrae variables; the evolution of the Cepheid stars; nonradial pulsations in rapidly rotating Delta Scuti stars; dynamical models of dust shells around Mira variables; and pulsations of central stars of planetary nebulae.
Alzheimer's disease (AD) is the most common form of dementia in the elderly. Although traditionally considered a disease of neurofibrillary tangles and amyloid plaques, structural and functional changes...Full Text Available
Peripheral vascular diseases (PVD) are referred to as diseases affecting the blood vessels other than the heart and the brain. Interventional endovascular treatment whenever feasible has become the...Full Text Available
Cerebral atrophy rate is increasingly used as an outcome measure for Alzheimer's disease (AD) trials. We used the Alzheimer's disease Neuroimaging initiative (ADNI) dataset to assess if adjusting...Full Text Available
Polycystic kidney disease (PKD) is one of the leading causes of end-stage renal disease in humans and is characterized by progressive cyst formation, renal enlargement, and abnormal tubular development....Full Text Available
Background/Aims:Inflammatory bowel disease (IBD) was previously thought a rare disease among children in Kuwait since most diarrhea cases were attributed to infections....Full Text Available
Infections have been implicated in the pathogenesis of a number of autoimmune diseases, and Yersinia enterocolitica (YE) might play a role in the development of autoimmune thyroid disease...Full Text Available
Forty-one Spanish families with polycystic kidney disease 1 (PKD1) were studied for evidence of linkage disequilibrium between the disease locus and six closely linked markers. Four of these loci--three...Full Text Available
BackgroundAlzheimer's Disease (AD) is the most common neurodegenerative disease and the leading cause of dementia among senile subjects. It has been proposed that AD can be caused...Full Text Available
STUDY OBJECTIVE: To estimate the incidence rate of newly diagnosed cases of coeliac disease in Italy. DESIGN: This was a descriptive study of coeliac disease incidence in the period 1990-91. SETTING:...Full Text Available
BackgroundSexual function is impaired in women with inflammatory bowel disease (IBD) as compared to normal controls. We examined disease specific determinants of different aspects...Full Text Available
Chronic wasting disease (CWD) is a contagious, fatal prion disease of deer and elk that continues to emerge in new locations. To explore the means by which prions are transmitted with high efficiency...Full Text Available
One of the modifiable risk factors associated with coronary heart disease (CHD) is hypercholesterolemia. This paper reviews the major plasma lipids and how they relate to coronary heart disease. Among...Full Text Available
Chagas disease, caused by infection with Trypanosoma cruzi, is an important cause of cardiovascular disease. It is increasingly clear that parasite-derived prostaglandins potently modulate...Full Text Available
Enzootic Glassers's disease was investigated to study the epidemiology of the disease strains on a farm where it presented a problem. Restriction endonuclease fingerprinting (REF) analysis technique...Full Text Available
BackgroundPeriodontal disease in diabetic patients presents higher severity and prevalence; and increased severity of ligature-induced periodontal disease has been verified in diabetic...Full Text Available
Aberrant transglutaminase (TG) activity has been implicated in the pathology of numerous diseases including Huntington disease and Alzheimer disease. To fully characterize the role of TGs in...Full Text Available
...American Journal of Kidney Diseases-The American Journal of Kidney Diseases (AJKD), the official journal of the National Kidney Foundation, is ... American Journal of Kidney Diseases - Elsevier Home Products User Resources About Us Support & Contact Elsevier Websites Advanced Product ...Search Browse Journals American Journal of Kidney Diseases American Journal of Kidney Diseases Official Journal of the National Kidney Foundation Additional Information Related Publications ...Article Tracking for Editors Reviewers Advertisers/Sponsors Advertisers Media Kit Societies National Kidney Foundation ISSN: 0272-6386 Imprint: SAUNDERS Actions Submit ...
Most common bacterial species causing peritonitis in the course of peritoneal dialysis (PDP) are coagulase-negative staphylococci, Staphylococcus aureus and streptococci. Haemophilus influenzae is rarely associated with PDP. Hereby we present the first known case of APD-associated peritonitis caused by non-type able H. influenzae (NTHi) presenting the beta-lactamase negative, ampicillin-resistant (BLNAR) phenotype. An 18 year old boy who had been treated with the APD for 12 months due to SLE was admitted in good general condition with diagnosis of PDP. Standard diagnostic and therapeutical procedures were initiated. Dialysis fluid was turbid with cytosis of 435 WBC/ml. From dialysis fluid pure culture of Gram-negative coccobacillus was isolated. The isolate was identified as a BLNAR phenotype. The same bacterium was isolated from nasal swab. Blood cultures were negative. After evaluation of antimicrobial susceptibility the treatment was changed ...
Twenty-two landrace-derived inbred lines from the Spanish Barley Core Collection (SBCC) were found to display high levels of resistance to a panel of 27 isolates of the fungus Blumeria graminis that exhibit a wide variety of virulences. Among these lines, SBCC145 showed high overall resistance and a distinctive spectrum of resistance compared with the other lines. Against this background, the main goal of the present work was to investigate the genetic basis underlying such resistance using a doubled haploid population derived from a cross between SBCC145 and the elite spring cultivar Beatrix. The population was genotyped with the 1,536-SNP Illumina GoldenGate Oligonucleotide Pool Assay (Barley OPA-1 or BOPA1 for short), whereas phenotypic analysis was performed using two B. graminis isolates. A major quantitative trait locus (QTL) for resistance to both isolates was identified on the long arm of chromosome 6H (6HL) and accounted for ca. 60% of the ...
BackgroundPlasmid encoded blaCTX-M enzymes represent an important sub-group of class A β-lactamases causing the ESBL phenotype which is increasingly...Full Text Available
BackgroundEstrogen receptors alpha (ERα) and beta (ERβ) are transcription factors (TFs) that mediate estrogen signaling and define the hormone-responsive phenotype...Full Text Available
Rice is a very important food staple that feeds more than half the world's population. Two major Asian cultivated rice (Oryza sativa L.) subspecies, japonica and indica, show significant phenotypic variation in their stress responses. However, the molecular mechanisms underlying this phenotypic variation are still largely unknown. A common link among different stresses is that they produce an oxidative burst and result in an increase of reactive oxygen species (ROS). In this study, methyl viologen (MV) as a ROS agent was applied to investigate the rice oxidative stress response. We observed that 93-11 (indica) seedlings exhibited leaf senescence with severe lesions under MV treatment compared to Nipponbare (japonica). Whole-genome microarray experiments were conducted, and 1,062 probe sets were identified with gene expression level polymorphisms between the two rice cultivars in addition to differential expression under MV treatment, which were ...
PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available
Neutrophils from people with poorly controlled diabetes present a primed phenotype and secrete excessive superoxide. Phospholipase A2 (PLA2)-derived arachidonic acid (AA)...Full Text Available
Loss-of-function mutations in the regulatory gene areA of Aspergillus nidulans prevent the utilization of a wide variety of nitrogen sources. The phenotypes of nit-2 mutants of Neurospora crassa suggest...Full Text Available
Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three ...
A crucial step in human breast cancer progression is the acquisition of invasiveness. There is a distinct lack of human cell culture models to study the transition from pre-invasive to invasive phenotype as it may occur 'spontaneously' in vivo. To delineate molecular alterations important for this transition, we isolated human breast epithelial cell lines that showed partial loss of tissue polarity in three-dimensional reconstituted-basement membrane cultures. These cells remained non-invasive; however, unlike their non-malignant counterparts, they exhibited a high propensity to acquire invasiveness through basement membrane in culture. The genomic aberrations and gene expression profiles of the cells in this model showed a high degree of similarity to primary breast tumor profiles. The xenograft tumors formed by the cell lines in three different microenvironments in nude mice displayed metaplastic phenotypes, including ...
Full text: A novel protocol based on electrospray ionization (ESI) multiple stage high capacity ion trap (HCT) mass spectrometry (MS) was developed for glycosphingolipidomic surveys. The method was optimized for detailed structural elucidation of human brain gangliosides and particularly applied to human hippocampus-associated structures. The multiple stage MS experiments allowed for a complete structural characterization of GM1 ganglioside species, which was achieved by elucidation of the oligosaccharide sequence, identification of the GM1 a structural isomer from the data upon sialic acid localization along the sugar backbone and determination of the d18:1/18:0 of fatty acid/sphingoid base composition of the ceramide moiety. The methodology developed here is of general practical applicability for glycolipids and represents a step forward in the implementation of the advanced and most modern MS methods in glycomics. Gangliosides are glycosphingolipids, which consist of a mono- to ...
Twenty autopsy cases with 2009 pandemic influenza A (2009 H1N1) virus infection, performed between August 2009 and February 2010, were histopathologically analyzed. Hematoxylin-eosin staining, immunohistochemistry for type A influenza nucleoprotein antigen, and real-time reverse transcription-PCR assay for viral RNA were performed on formalin-fixed and paraffin-embedded specimens. In addition, the D222G amino acid substitution in influenza virus hemagglutinin, which binds to specific cell receptors, was analyzed in formalin-fixed and paraffin-embedded trachea and lung sections by direct sequencing of PCR-amplified products. There were several histopathological patterns in the lung according to the most remarkable findings in each case: acute diffuse alveolar damage (DAD) with a hyaline membrane (four cases), organized DAD (one case), acute massive intra-alveolar edema with variable degrees of hemorrhage (three cases), neutrophilic bronchopneumonia (five cases) and ...
Background and purpose: Local treatment for non-metastatic Ewing's sarcoma family tumors (ESFTs) is controversial. Results achieved in a single institution in patients with ESFT of the humerus are presented. Materials and methods: Patients treated between 1983 and 2000 for ESFT of the humerus were included. The impact of local treatment (surgery, radiotherapy or both) on outcome was assessed. Results: 55 patients: 34 males (62%); 21 females (38%); mean age: 17.9 (range: 3-40). Local treatment: surgery in 27 patients (49%), radiotherapy in 17 (31%) and surgery followed by radiotherapy in 11 (20%). After a mean follow-up of 15 years (range: 7-25 years), 27 patients (49%) remained continuously disease free, 27 (49%) relapsed and one died of chemotherapy toxicity. The local recurrence rate was 13% overall: 18% (3/17) after radiotherapy, 7% (2/27) after surgery and 19% (2/11) after surgery followed by adjuvant radiotherapy (p = ns). On the contrary, the 10-year EFS ...
L-[3-"1"8F]-#alpha#-methyltyrosine ("1"8F-FMT) is an amino-acid tracer for positron-emission tomography (PET). We have conducted a clinicopathologic study to elucidate the correlation of angiogenesis with "1"8F-FMT and 2-["1"8F]-fluoro-2-deoxy-D-glucose ("1"8F-FDG) uptake in patients with non-small cell lung cancer (NSCLC). Thirty-seven NSCLC patients were enrolled in this study, and two PET studies with "1"8F-FMT and "1"8F-FDG were performed. Uptake of PET tracers was evaluated with standardized uptake value. Vascular endothelial growth factor (VEGF), CD31, CD34, L-type amino acid transporter 1 (LAT1) and Ki-67 labeling index of the resected tumors were analyzed by immunohistochemical staining, and correlated with the clinicopathologic variables and the uptake of PET tracers. The median VEGF rate was 45% (range, 10-78%). High expression was seen in 30 patients (81%, 30/37). VEGF expression was statistically associated with progressively growing microvessel count. ...
Purpose: To examine the role of brachytherapy in the treatment of cholangiocarcinomas in a relatively large group of patients. Methods and Materials: Using the Surveillance, Epidemiology and End Results database, a total of 193 patients with cholangiocarcinoma treated with brachytherapy were identified for the period 1988-2003. The primary analysis compared patients treated with brachytherapy (with or without external-beam radiation) with those who did not receive radiation. To try to account for confounding variables, propensity score and sensitivity analyses were used. Results: There was a significant difference between patients who received radiation (n = 193) and those who did not (n = 6859) with regard to surgery (p < 0.0001), race (p < 0.0001), stage (p < 0.0001), and year of diagnosis (p <0.0001). Median survival for patients treated with brachytherapy was 11 months (95% confidence interval [CI] 9-13 months), compared with 4 months for patients ...
BackgroundIncrease in the incidence of hyperuricemia associated with gout as well as hypertension, renal diseases and cardiovascular diseases has been a public health concern. We...Full Text Available
Contagious diseases are a threat to animal health and productivity, both nationally and at the farm level. This makes implementation of biosecurity measures to prevent their introduction and...Full Text Available
Hypersensitivity Pneumonitis (HP) is an interstitial lung disease that develops following repeated exposure to inhaled environmental antigens. The disease is characterized by alveolitis, granuloma formation...Full Text Available
Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline...Full Text Available
BackgroundSeveral studies have suggested an association between periodontal disease and prematurity but this finding has not been consistently observed.MethodsCase...Full Text Available
Percutaneous renal biopsy (PRB) is a safe and effective tool in the diagnosis and management of renal disease. It is the gold standard for evaluating renal parenchymal disease. It is both useful for...Full Text Available
The identification of individuals at risk for Alzheimer's disease (AD) is essential for the timely administration of treatment approaches aimed at slowing the onset or progression of the disease....Full Text Available
While the etiology of Parkinson's disease remains largely elusive, there is accumulating evidence suggesting that mitochondrial dysfunction occurs prior to the onset of symptoms in Parkinson's disease....Full Text Available
Stabbing paroxysmal pain due to neurological disease can often be controlled by anticonvulsants, whereas steady burning pain is often responsive to tricyclic antidepressants, and to neuroleptics. Overuse...Full Text Available
Primary sclerosing cholangitis (PSC) is a rare cholestatic liver disease with major morbidity and mortality. Therapeutic management is difficult, due to lack of conclusive data and individual disease...Full Text Available
Rheumatoid arthritis (RA) is a debilitating autoimmune disease of global prevalence. The disease is characterized by synovial inflammation leading to cartilage and bone damage. Most of the conventional...Full Text Available
AIM: To search the independent factors determining gastric juice acidity and to investigate the acidity of gastric juices in various benign and malignant upper gastrointestinal diseases.METHODS:...Full Text Available
AIM: To investigate the effects of gallbladder stones on motor functions of the gallbladder and the dynamics of bile flow in asymptomatic gallstone disease.METHODS: Quantitative hepatobiliary...Full Text Available
In contrast to the increasing availability of information pertaining to the care of children with chronic kidney disease (CKD) from large-scale observational and interventional studies, epidemiological...Full Text Available
BackgroundMultiple myeloma is a hematologic malignancy associated with the development of a destructive osteolytic bone disease.ResultsMathematical...Full Text Available
ObjectiveTo develop a simple summary risk score for the prediction of Alzheimer disease in elderly persons based on their vascular risk profiles.DesignFull Text Available
Purpose: To assess the new method of 3-dimensional echocardiography in comparison to the 'gold standard' MRI as to its ability to calculate left ventricular volumes in patients with congenital heart disease. Materials and methods: Eighteen patients between the ages of 3.9 to 37.3 years (mean: 12.8{+-}9.7) with a geometrically abnormal left ventricle were examined using a 1.5 T scanner with a fast gradient-echo sequence (TR=14 ms, TE=2.6-2.9 ms, FOV=300-400 mm, flip angle=20 , matrix=128:256, slice thickness=5 mm, retrospective gating) in multislice-multiphase technique. Transthoracic 3D-echocardiography was performed with a 3.5 MHz transducer and a Tomtec {sup trademark} (Munich, Germany) system for 3D reconstruction. Results: Volume calculation was possible in all patients with 3D-echocardiography, but the muscle mass calculation only succeeded in 11 to 18 patients (61%) due to inadequate visualization of the entire myocardium. Comparing MRI and ...
We used epidemiologic data for human West Nile virus (WNV) disease in Colorado from 2003 and 2007 to determine 1) the degree to which estimates of vector-borne disease occurrence is influenced by spatial...Full Text Available
Laboratory-based surveillance of Lyme disease in Connecticut during 1984 and 1985 identified 3,098 persons with suspected Lyme disease; 1,149 were defined as cases. Lyme disease incidence in Connecticut...Full Text Available
A common property of aging in all animals is that chronologically and genetically identical individuals age at different rates. To unveil mechanisms that influence aging variability, we identified markers...Full Text Available
Variability in motor performance decreases with practice but is never entirely eliminated, due in part to inherent motor noise. The present study develops a method that quantifies how performers...Full Text Available
BackgroundDue to the increased accuracy of Copy Number Variable region (CNV) break point mapping, it is now possible to say with a reasonable degree of confidence whether a gene...Full Text Available
Operation of an X-ray spectrometer based on a spherical variable-line-spacing (VLS) grating is analyzed using dedicated ray-tracing software allowing fast optimization of the grating parameters and...Full Text Available
This work reports the design of and experimentation with a topographically patterned cell culture substrate of variable local density and anisotropy as a facile and efficient platform to guide...Full Text Available
BackgroundIn cancer research, most clinical variables have already been investigated and are now well established. The use of transcriptomic variables has raised two problems: restricting...Full Text Available
A common approach used to fuse simultaneously recorded EEG and fMRI is to correlate trial-by-trial variability in the EEG, or variability of components derived therefrom, with the blood oxygenation...Full Text Available
The aims of this study were to quantify the severity and extent of subclinical interstitial lung disease as depicted on HRCT and to study the relationship between the patterns of lung disease quantified by HRCT and the functional parameters and bronchoalveolar lavage findings in patients with rheumatic diseases. The results confirm that HRCT is a sensitive tool in detecting interstitial lung disease in patients with rheumatic diseases with no signs and symptoms of pulmonary involvement. The relationship between the different HRCT patterns and bronchoalveolar lavage cell profiles can identify patients at higher risk of developing irreversible lung fibrosis. A long-term, prospective follow-up study is needed to determine whether these patients will develop over pulmonary disease.
The case is presented of a 64-year-old man who complained on admission of discomfort in the right shoulder at the time of excision of a large section of the axillary skin which contained extra-mammary Paget disease. Shortly thereafter, radiological studies of the humerus and scapula showed obvious malignant disease which proved to be metastatic upon biopsy of the humerus and pathological studies of the excised area of extra-mammary Paget disease in the axillary skin. The patient died twelve months after the diagnosis was established with widespread metastatic disease. The literature on the subject was reviewed and it was demonstrated that metastases to the skeleton from lesions of the skin are relatively rare. This case is exceptional because of the rapid fatal course and the extent of metastatic disease originating in extra-mammary Paget disease of the axillary ...
Effects of soil pH on damping-off of sugar beet by R. solani (AG2-2) and soil suppressiveness against the disease were studied by comparing disease incidences in pasteurized versus non-pasteurized, infested soils. Soil pH was correlated neither to disease incidence in five soils ranging from pH?4.5 to 7.2 nor to indigenous disease suppressiveness, the difference in disease incidences between non-treated soil and its pasteurized counterpart. When an alkaline soil was acidified with H2SO4, disease suppression markedly declined, increasing disease incidence in the non-pasteurized soil. Inversely, disease suppression was enhanced when an acidic soil was neutralized by adding Ca(OH)2. Soil amendment with dried peanut plant residue suppressed the disease in two pasteurized, near-neutral soils, l...
Recent developments in the analysis of Mira atmosphere, the determination of the pulsation mode, the problem of mass loss, and the evolution of the Mira variables are covered. Model atmospheres for Mira variables, including the opacities of the molecules expected in very late M-type atmospheres are discussed. The pulsation constant for Omicron Ceti is evaluated using T(eff) = 2900 + or - 200 K, and it is concluded that Miras are fundamental mode pulsators. The importance of molecular opacity to the driving of mass loss is evaluated, and it is pointed out that the radiation pressure on molecules is not a major factor in driving mass loss from Mira. Mass loss is considered as a factor in the calculations of the periods for Mira variables. 30 refs.
A theory of the asymptotic functions for the case of many variables is presented. It is shown that the class F(R"N) of these generalized functions is closed in respect to the linear algebraic and analytic operations, multiplication as well as a set of linear and polynomial changes of the variables. The existence in F(R"N) of analogues (consistent with the linear operations) of the Schwartz distributions with point support is proved. In terms of these analogues, some formulae for singular products and changes of variables of the Dirac #delta#-function and its derivatives #delta#"("i")(x), x is an element of R"N, are given. (author). 14 refs.
Ascochyta blight causes significant yield loss in pulse crops worldwide. Integrated disease management is essential to take advantage of cultivars with partial resistance to this disease. The most effective practices, established by decades of research, use a combination of disease-free seed, destruction or avoidance of inoculum sources, manipulation of sowing dates, seed and foliar fungicides, and cultivars with improved resistance. An understanding of the pathosystems and the inter-relationship between host, pathogen and the environment is essential to be able to make correct decisions for disease control without compromising the agronomic or economic ideal. For individual pathosystems, some components of the integrated management principles may need to be given greater consideration tha...
Success in improving hydropower project efficiency has opened more global markets for variable-speed generator technology. Manufacturers continue to test the markets as the technology evolves. The potential of variable-speed application becomes evident considering that more than 150 pumped storage plants, with a combined capacity exceeding 100,000 MW, are in operation globally.
Based on proposed models for the tidal spin-up and magnetic braking of stars with a convective outer envelope, it is suggested that the rotation of secondaries in cataclysmic variables is not necessarily synchronized with the orbital revolution. This may provide an explanation for the observed large range in the mass transfer rate (at the same orbital period) of cataclysmic variables above the period gap. (author).
In this paper, we derive the moderate deviation principle for stationary sequences of bounded random variables with values in a Hilbert space. The conditions obtained are expressed in terms of martingale-type conditions. The main tools are martingale approximations and a new Hoeffding inequality for non adpated sequences of Hilbert-valued random variables. Applications to Cramer-Von Mises statistics, functions of linear processes and stable Markov chains are given.
This paper examines how robust economic, political, and demographic variables are related to water and air pollution. Employing Bayesian Averaging of Classical Estimates (BACE) for a cross section of 47 countries, 34 variables and 3 proxies for air and water pollution over a period from 1980 to 2000 we confirm the environmental Kuznets curve hypothesis and highlight the relevance of variables that are not directly related to production.
In recent years there has been a renewed interest in the treatment of quantum mechanics in terms of joint distribution functions, i.e. functions of momentum and position coordinates p and q. The author considers j.d.f. in the sense of classical probability theory of a stochastic variable. The j.d.f. is then interpreted as the probability that the variables p and q have certain values, the variables being considered as a property possessed by the object system. This formalism is used to provide a unified description of bradyons and tachyons. (Auth.).
The authors summarize EUVE's contribution to the study of the boundary layer emission of high accretion-rate nonmagnetic cataclysmic variables, especially the dwarf novae SS Cyg, U Gem, VW Hyi, and OY Car in outburst. They discuss the optical and EUV light curves of dwarf nova outbursts, the quasi-coherent oscillations of the EUV flux of SS Cyg, the EUV spectra of dwarf novae, and the future of EUV observations of cataclysmic variables.
Respiration and related physiologic variables in different tissues of Barytelphusa guerini and the respiration of this freshwater crab as a whole are closely synchronized in phase and in frequency along the circadian scale, in the face of large differences in circadian amplitude. A very close timing of most of the 36 variables examined in 2 separate circadian profiles and a modulation of some of these variables in added profiles as a function of lunar stage are clearly demonstrable, statistically significant and illustrative of time relations at 2 interacting frequencies. PMID:6745009
A methodology and hypothetical case study are presented for incorporation of uncertainty and variability into calculations of human health risk appropriate for regional, or basin-scale, groundwater management problems. Uncertainty in well water concentration is introduced through complex contaminant migration patterns in the subsurface. Variability is considered in parameters related to individual behavior patterns and biological effects and to groundwater extraction and distribution networks. A joint uncertainty and variability (JUV) analysis is used to generate a two-dimensional distribution or risk surface that spans both transport uncertainty as well as individual variability. Cuts in this distributional surface (fractiles of variability and percentiles of uncertainty) are presented and discussed. Comparisons with alternative approaches based upon deterministic transport models ...
Three normal human diploid cell strains were transfected with an activated Ha-ras oncogene (EJ ras) or SV40 T-antigen. Multiple clones were examined for morphological alterations, growth requirements, ability to grow under anchorage independent conditions, immortality and tumorigenicity in nude mice. Clones expressing SV40 T-antigen alone or in combination with ras protein p21 were significantly radioresistant as compared with their parent cells or clones transfected with the neo gene only. This radioresistant phenotype persisted in post-crisis, immortalized cell lines. These data suggest that expression of the SV40 T-antigen but not activated Ha-ras plays an important role in the radiosensitivity of human diploid cells. The radioresistant phenotype in SV40 T transfected cells was not related to the enhanced level of genetic instability seen in pre-crisis and newly immortalized cells, nor to the process of immortalization itself. (author).
Fingerprinting of Penicillium crustosum strains was performed using different phenotypic characteristics. Seven strains of this extremely homogenous species were selected; of these, five originated from geographical locations characterized by low temperatures, and one from a location with a low water activity. Principal component analysis (PCA) was performed using micromorphological data, temperature- and water-dependent growth rates, and extrolite profiles obtained by HPLC analysis. The micromorphological data were less informative, while the growth-rate data were informative only if the strains investigated already showed slight adaptations to the selected external parameter. In contrast, PCA analyses of the extrolite data showed groupings of the strains according to their origins and known physiological differences. These groupings are in full agreement with the clustering obtained by previous amplified fragment length polymorphism (AFLP) study. We thus ...
We investigated the in vitro phenotypic transformation of human embryo (HE) cells that were repeatedly irradiated (7.5 cGy once a week) throughout their life-span. Irradiation was repeated until the cells had accumulated 195 cGy (equivalent to the 26th passage). Samples of cells were assayed for survival by colony formation, as well as for mutation at the hypoxanthine guanine phosphoribosyl transferase (HGPRT) locus and for transformation by focus formation. The life-span (mean number of population doublings) of multiply irradiated cells with a total dose of 97.5 cGy was slightly but significantly prolonged over that of controls. After HE cells had accumulated 195 cGy, the maximum number of divisions increased to 130-160% of the number in non-irradiated control cells. Transformed foci were not observed until cells had accumulated 97.5 cGy, and then increased with the increasing accumulation of radiation. However, no cells showed immortality or expressed a malignant ...
In this study, adipose-derived stem cells (ASCs) were cocultured with nucleus pulposus (NP) cells using a porous membrane to investigate the effect of NP cell phenotype on ASC chondrogenic differentiation. Human NP cells were collected from 14 patients and classified into two groups (normal vs. degenerative) depending on the level of type II collagen, aggrecan (AGG), type I collagen, and bax gene expression. Human ASCs were then cocultured with each group of NP cells on porous membranes in the absence of chondrogenic supplements. After 2 weeks, real-time-polymerase chain reaction results showed that ASCs cocultured with normal NP cells had much higher type II collagen and AGG gene expression than ASCs cocultured with degenerative NP cells. The production of AGG was also observed only in th...
The classical phenomenon of position-effect variegation (PEV) is the mosaic expression that occurs when a chromosomal rearrangements moves a euchromatic gene near heterochromatin. A striking feature of this phenomenon is that genes far away from the junction with heterochromatin can be affected, as if the heterochromatic state {open_quotes}spreads.{close_quotes} We have investigated classical PEV of a Drosophila brown transgene affected by a heterochromatic junction {approximately} 60 kb away. PEV was enhanced when the transgene was locally duplicated using P transposase. Successive rounds of P transpose mutagenesis and phenotypic selection produced a series of PEV alleles with differences in phenotype that depended on transgene copy number and orientation. As for other examples of classical PEV, nearby heterochromatin was required for gene silencing. Modifications of classical PEV by alterations at a single site are unexpected, and these ...
The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in ...
There is a lot of interest in the studies that would help to understand whether there is a casual association between cancer and various types of molecular or cytogenetic damage detected in human cells. One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocation. There are substantial evidence that indicates that the loss of heterozygosity of certain chromosomes is involved in human cancerogenesis. Our study aimed to elicit the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people bearing various categories of skin cancer cells. Fresh blood was collected by venipuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3 % of them were former smokers. Blood samples were divided into two parts and in the first part of samples cytogenetic studies were performed immediately, while from the second part lymphocytes were isolated ...
Meningococcal disease is an infection caused by Neisseria meningitidis. Genetic factors contribute to host susceptibility and progression to disease, but the genes responsible for disease development are largely unknown. We report here a genome-wide association study for host susceptibility to meningococcal disease using 475 individuals with meningococcal disease (cases) and 4,703 population controls from the UK. We performed, in Western European and South European cohorts (consisting of 968 cases and 1,376 controls), two replication studies for the most significant SNPs. A cluster of complement factor SNPs replicated independently in both cohorts, including SNPs within complement factor H (CFH) (rs1065489 (p.936D
SummaryBackground Persistent Lyme Disease Symptoms (PLDS) have included fatigue, headaches, poor concentration and memory, lightheadedness, joint pain, and mood disturbances. Evidence-based guidelines committees disagree over the severity of PLDS. The 2004 International Lyme and Associated Diseases Society (ILADS) concluded that PLDS are severe. The 2006 Infectious Disease Society of America (IDSA) guidelines committee concluded that PLDS are nothing more than the "aches and pains of daily living" and an ad hoc International Lyme group concluded that PLDS are "symptoms common in persons who have never had Lyme disease." Hypothesis Clinical trials validate the severity of persistent Lyme disease symptoms. Evaluation of the Hypothesis There are 22 standardized instruments used to measure the...
Borna disease virus (BDV) uses a unique strategy of replication and transcription which takes place in the nucleus, unlike other known, nonsegmented, negative-stranded RNA viruses of animal origin....Full Text Available
The sequential events and the inflammatory mediators that characterize disease onset and progression of ulcerative colitis (UC) are not well known. In this study, we evaluated the early pathologic events...Full Text Available
BackgroundOne of the more common behavioral manifestations of dementia-related disorders is severe problems with out-of-home mobility. Various efforts have been attempted to attain...Full Text Available
Krabbe disease (KD) is an inherited neurological disorder caused by the deficiency of galactocerebrosidase activity resulting in accumulation of psychosine, which leads to energy depletion,...Full Text Available
The objective of the current research was to examine the association of herd level disease incidence with the return over feed (ROF) (milk income minus feed cost) herd profit index offered through Canwest...Full Text Available
Introduction:Chronic obstructive pulmonary disease (COPD) is a major public health problem. It imparts a substantial economic burden on individuals and society. Acute exacerbations...Full Text Available
Virulent strains of Newcastle disease virus ([NDV] also known as avian paramyxovirus type 1) can be discriminated from low-virulence strains by the presence of multiple basic amino acid residues at...Full Text Available
BackgroundThis study focuses on the role of an Internet-based group for people who have an autoimmune liver disease, primary biliary cirrhosis. Primary biliary...Full Text Available
BackgroundCharacterizing infectious disease burden in Africa is important for prioritizing and targeting limited resources for curative and preventive services and monitoring the...Full Text Available
BackgroundEpidemiological studies have shown a J- or U-shaped relation between alcohol and type 2 diabetes and coronary heart disease (CHD). The underlying mechanisms are not clear....Full Text Available
The abundance of host-seeking Ixodes scapularis nymphs, the principal vector for the Lyme disease agent, Borrelia burgdorferi, in Old Lyme, Lyme, and East Haddam, Connecticut,...Full Text Available
The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available
Background and objectives: While many patients with end-stage renal disease (ESRD) have impaired physical and psychologic well-being, less is known about these health domains in patients with advanced...Full Text Available
Sugarcane rusts, brown (caused by Puccinia melanocephala) and orange (caused by P. kuehnii), are agronomically important diseases in Florida. Cultivar resistance is the best means of managing these diseases. Unfortunately, natural infection of brown rust is not always efficient in determining resist...
Objectives: To determine the community based prevalence of rheumatic heart disease (RHD) in the rural population of the district of Rahim Yaar Khan in Pakistan.Subjects...Full Text Available
BackgroundPrevention of Chagas disease depends mainly on control of the insect vectors that transmit infection. Unfortunately, the vectors have been resurgent in some areas. It is...Full Text Available
BackgroundAlthough symptoms of sleepiness and fatigue are common among adults with Chronic Kidney Disease (CKD), little is known about the prevalence of these symptoms...Full Text Available
Sexually transmitted diseases (STDs) represent a major public health problem in the country, cause patients enormous suffering, and cost the nation billions of dollars annually. Demographic, sociological,...Full Text Available
Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent...Full Text Available
Lifetime exposure to physical activity is an important construct for evaluating associations between physical activity and disease outcomes, given the long induction periods in many chronic diseases....Full Text Available
Forty-four patients with histologically proven Hodgkin's disease underwent initial treatment with extended-field radiation therapy. Nineteen of these patients also received combination chemotherapy....Full Text Available
Breast cancer is a progressive and potentially fatal disease that affects women of all ages. Like all progressive diseases, early and reliable diagnosis is the key for successful treatment and annihilation....Full Text Available
The authors’ objective was to analyze the impact of respiratory impairment on the risk of physical functional limitations among adults with chronic obstructive pulmonary disease (COPD)....Full Text Available
Clinical and experimental evidence has demonstrated the potential role of probiotics in the prevention or treatment of inflammatory bowel disease. Probiotic clones with direct immunomodulatory activity...Full Text Available
ObjectivesThe aims of this study were to evaluate the prevalence of otolaryngologic diseases in Korea.MethodsWe obtained data from the 2008 Korea...Full Text Available
BackgroundConducted as part of the Urologic Diseases in America project whose aim was to quantify the burden of urologic diseases on the American public, this study focuses on Veterans...Full Text Available
Eight recreational parks located in a Lyme disease endemic area of southern New York State were surveyed for the presence of ticks during the summer of 1985 by drag sampling. Ixodes dammini, the primary...Full Text Available
Earlier studies of white London busmen revealed that the ischaemic heart disease experience of conductors is better than that of drivers. Various factors which might be related to this difference have...Full Text Available
Physical activity is associated with reduced risk of several age-related diseases as well as with increased longevity in both rodents and humans. Though these associations are well established, evidence...Full Text Available
Background and objectives: Chronic kidney disease (CKD) is associated with impaired physical activity. However, it is unclear whether the associations of physical activity with mortality are modified...Full Text Available
Diseases of man caused by the virus of herpes simplex fall into two broad categories. The primary disease occurs only once in any individual's life and is caused by transmission of virus from an already...Full Text Available
Severe acute respiratory syndrome (SARS) is an infectious disease caused by a novel coronavirus that cost nearly 800 lives. While there have been no recent outbreaks of the disease, the threat...Full Text Available
Organisms in the genus Mycobacterium cause a variety of human diseases. One member of the genus, M. ulcerans, causes a necrotizing skin disease called Buruli ulcer....Full Text Available
The outcome of patients admitted to intensive care units is known to be influenced by such factors as age, previous health status, severity of disease, and diagnosis. To estimate the outcome of such...Full Text Available
Arriving at a firm diagnosis of neurosarcoidosis continues to pose serious problems, particularly when evidence of granulomatous disease outside the nervous system is lacking. The commonest mode of...Full Text Available
BackgroundVariant Creutzfeldt–Jakob disease (vCJD) is a prion disease thought to be acquired by the consumption of prion-contaminated beef products. To date, over 200 cases...Full Text Available
Breath analysis is a powerful noninvasive technique for the diagnosis and monitoring of respiratory diseases, including asthma and chronic obstructive pulmonary disease (COPD). Nitric oxide...Full Text Available
Objective:Parkinson disease (PD) may affect the autonomic nervous system and may cause constipation; however, few studies have explored constipation preceding the motor onset of...Full Text Available
In this paper we report a case with primarily unspecific arthralgia after surgical therapy of hallux valgus deformity and consecutive reflex sympathetic dystrophy in which MR led to the diagnosis of Lyme disease. (orig.)
Bone metastasis of primary colorectal cancer is uncommon. When it occurs, it is usually a late manifestation of disease and is indicative of poor prognosis. We describe a patient with multiple metachronous...Full Text Available
Objectives To understand the perspectives of people with severe chronic obstructive pulmonary disease (COPD) as their illness progresses, and of their informal and professional carers,...Full Text Available
Liver fluke disease is a chronic parasitic inflammatory disease of the bile ducts. Infection occurs through ingestion of fluke-infested, fresh-water raw fish. The most well-known species that cause...Full Text Available
BackgroundApolipoprotein E (ApoE), a cholesterol carrier associated with atherosclerosis, is a major risk factor for Alzheimer's disease (AD). The low-density lipoprotein receptor...Full Text Available
A yellow-pigmented, gram-negative, gliding bacterium isolated from an industrial water spray air humidification system was implicated as a causative agent in several occurrences of lung disease with...Full Text Available
BackgroundSulfasalazine is a widely used anti-inflammatory agent in the treatment of inflammatory bowel disease and several rheumatological disorders. Although as many as 20% of...Full Text Available
Stargardt disease (STGD) is the major form of inherited juvenile macular degeneration. Pyridinium bis-retinoid A2E is a major component of lipofuscin which accumulates in retinal pigment epithelium...Full Text Available
BackgroundAlzheimer's disease, known to be associated with the gradual loss of memory, is characterized by low concentration of acetylcholine in the hippocampus and cortex part of...Full Text Available
The identification and validation of biomarkers for diagnosing Alzheimer's disease (AD) and other forms of dementia are increasingly important. To date, ELISA measurement of β-amyloid(1–42),...Full Text Available
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available
We describe here seven cases (from five kindreds) of Anderson's disease, which is characterized by diarrhea, steatorrhea, hypobetalipoproteinemia with low levels of cholesterol, triglycerides, and phospholipids,...Full Text Available
Viruses, and more particularly retroviruses, have been postulated to play a role in the pathogenesis of autoimmune diseases. In a search for spumaretrovirus infection markers, we screened a group of...Full Text Available
We have developed a new strategy for immunization of wild rabbit populations against myxomatosis and rabbit hemorrhagic disease (RHD) that uses recombinant viruses based on a naturally attenuated field...Full Text Available
It is now widely accepted that novel infectious disease can be a leading cause of serious population decline and even outright extinction in some invertebrate and vertebrate groups (e.g., amphibians)....Full Text Available
An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is...Full Text Available
BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available
Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides...Full Text Available
Mycobacterium ulcerans is the causative agent of Buruli ulcer, the third most common mycobacterial disease after tuberculosis and leprosy. It is an emerging infectious disease that...Full Text Available
Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of...Full Text Available
Most human diseases are related in some way to the loss or gain in gene functions. Regulation of gene expression is a complex process. In addition to genetic mechanisms, epigenetic causes are...Full Text Available
A striking common feature of many autoimmune diseases in humans and experimental animals, despite differences in pathology, is that females are highly susceptible to autoimmune conditions compared to...Full Text Available
Few diseases exemplify the integration of research from bench to bedside as well as neonatal lupus, often referred to as a model of passively acquired autoimmunity. In essence, this disease encompasses...Full Text Available
Southern tick-associated rash illness (STARI) is a Lyme disease-like infection described in patients in the southeastern and south-central United States, where classic Lyme disease is relatively rare....Full Text Available
Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in...Full Text Available
Objectives. To assess the feasibility of treating musculoskeletal pain in the lower back and/or lower extremities in persons with Parkinson's disease (PD) with cranial electrotherapy...Full Text Available
BackgroundExcessive television (TV) viewing might play an important role in the development of cardiovascular disease (CVD). The aim of this study was to examine the independent...Full Text Available
BackgroundA goal of human genetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the...Full Text Available
OBJECTIVE--To develop, test, and validate an algorithm for diagnosing disease in neonates during an over the telephone referral to a specialist cardiac centre. DESIGN--A draft algorithm requiring only...Full Text Available
ObjectivesThe aim of this study was to investigate the effect of cigarette smoking on clinical parameters and signs anemia of chronic disease in chronic periodontitis patients.Full Text Available
Erythrocyte transketolase activity and the effect of adding thiamine pyrophosphate (% thiamine pyrophosphate effect) were measured in 111 subjects suspected to suffer from Leigh's disease (subacute...Full Text Available
A conference entitled ‘2nd International Berlin Bat Meeting: Bat Biology and Infectious Diseases’ was held between the 19 and 21 of February 2010 in Berlin, Germany. Researchers from...Full Text Available
The effects of dietary monosodium glutamate (MSG) on trans-fatty acid (TFA)-induced nonalcoholic fatty liver disease (NAFLD) are addressed in an animal model. We used Affymetrix microarray...Full Text Available
Periodontal diseases are infections of the tissues supporting the dentition. Recognition that relatively specific microfloras are associated with distinct clinical forms of periodontal disease has prompted...Full Text Available
Objective:To investigate the combined effect of both pioglitazone and methotrexate on disease activity of rheumatoid arthritis in a biphasic study; experimental and clinical.Methods:Experimentally:...Full Text Available
BackgroundChronic wasting disease (CWD) of cervids is a prion disease distinguished by high levels of transmissibility, wherein bodily fluids and excretions are thought to play an...Full Text Available
Many epidemiological evidences have proven the association between smoking and periodontal disease. The causality can be further established by linking findings of traditional epidemiological studies...Full Text Available
Background:We analyzed the effects of a docosahexaenoic acid (DHA) supplementation in patients affected with late onset Stargardt disease (STGD).Methods:DHA...Full Text Available
Since polyglutamine (polyQ) aggregate formation has been implicated as playing an important role in expanded CAG repeat diseases, it is important to understand the biophysics underlying the...Full Text Available
Huntington's disease (HD) is one of several neurodegenerative disorders caused by expansion of CAG repeats in a coding gene. Somatic CAG expansion rates in HD vary between organs, and the greatest instability...Full Text Available
Enterotoxigenic Escherichia coli (ETEC) is a leading cause of diarrhea in travelers to countries where the disease is endemic and causes a major disease burden in the indigenous population,...Full Text Available
Paratuberculosis (Johne's disease), an endemic mycobacteriosis of cattle that is caused by Mycobacterium paratuberculosis, is characterized by incoercible diarrhea and fecal shedding of bacteria. The...Full Text Available
Coronary artery disease (CAD) is the single most common cause of death in the developed world, responsible for about 1 in every 5 deaths. The morbidity, mortality, and socioeconomic importance...Full Text Available
This study examined the genetic basis of hypertension and renal disease in Dahl SS/Mcwi (Dahl Salt-Sensitive) rats using a complete chromosome substitution panel of consomic rats in which each of the...Full Text Available
Characteristics relevant to cardiovascular disease, including anthropometry, arterial blood pressure, serum cholesterol levels, chest radiography and electrocardiography, were investigated in a survey...Full Text Available
Hepatocellular carcinoma (HCC) is one of the most critical global health issues. With frequent association of viral liver disease, HCC is highly complex, harboring both cancer and chronic liver disease....Full Text Available
This study was designed to identify the causes of the development of carpal tunnel syndrome (CTS) associated with end stage kidney disease (ESKD). A total of 112 patients with ESKD, 64 on hemodialysis...Full Text Available
BackgroundIn 1988, the SPILI project was established in order to evaluate the cardiovascular disease (CVD) risk profile of the inhabitants of Spili, in rural Crete, Greece. The first...Full Text Available
Alterations in basement membrane components, notably proteoglycans, in a rat model of polycystic kidney disease have been investigated. Rats were fed phenol II (2-amino-4-hydroxyphenyl-5-phenyl thiazole)...Full Text Available
Public health activities, especially infectious disease control, depend on effective teamwork. We present the results of a pilot audit questionnaire aimed at assessing the quality of public health services...Full Text Available
To assess the effects of increasing the mineral content of parenteral nutrition solutions on the biochemical and radiological indicators of metabolic bone disease of prematurity 27 neonates who required...Full Text Available
BackgroundSepsis or bacteraemia, however rare, is a significant cause of high mortality and serious complications in children. In previous studies skin disease or skin infections...Full Text Available
Background:Erectile dysfunction in type-2 diabetes may be an independent marker for coronary artery disease. Present study was undertaken to investigate whether type-2 diabetic...Full Text Available
BackgroundMutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production...Full Text Available
Anxiety may cause adverse outcomes through physiologic pathways in patients with cardiac disease. The purpose of this dissertation was to investigate anxiety and its correlates in persons with acute myocardial infarction (AMI) and heart failure (HF). The ...
The two categories of anti-albumin antibodies (AAA), namely precipitins (AA-P) and agglutinins (AA-Aggl), were investigated in 260 patients with morphologically diagnosed chronic liver diseases (CLD)....Full Text Available
BackgroundWhile some studies have found that anger increases the risk of incident coronary heart disease (CHD), others found anger protective. Prior studies did not...Full Text Available
AIM: This paper reviews progression in renal diseases. METHODS: An English language literature search using Medline (1980 January-2001 July) was done to assess research and review articles on progression...Full Text Available
BackgroundWidespread availability of geographic information systems software has facilitated the use of disease mapping in academia, government and private sector. Maps that display...Full Text Available
Background. Erythropoietin deficiency and anemia occur in Chronic Kidney Disease (CKD) and may be treated with Erythropoietin Stimulating Agents (ESAs). The optimal hemoglobin,...Full Text Available
MRI plays an increasingly important role for assessment of patients with chronic liver disease. MRI has numerous advantages, including lack of ionizing radiation and the possibility of performing...Full Text Available
BACKGROUND--Interstitial lung diseases are characterised by the recruitment of mononuclear cells to disease sites where maturation occurs and activation products, including lysozyme (LZM), are released....Full Text Available
BackgroundChronic kidney disease and end-stage renal disease are major causes of morbidity and mortality that are seen far more commonly in the aged population. Interestingly, kidney...Full Text Available
A form for the clinical evaluation of bovine digital disease was developed. In this article, each section of the resulting Digit Evaluation Form is discussed and justified. By following the...Full Text Available
OBJECTIVE: To assess the association between erectile dysfunction (ED) and the long-term risk of coronary artery disease (CAD) and the role of age as a modifier of this association.PARTICIPANTS...Full Text Available
Radiological findings of chest and abdominal wall involvement in Hodgkin's disease are reported. This manifestation was diagnosed in one patient in the primary staging and in two patients during the course of the disease. Typical radiological findings are soft tissue masses in the chest and abdominal wall, in two cases with continous tumor growth of enlarged mediastinal lymphnodes into the anterior chest wall. The axial computed tomography is the best method to evaluate the extent of chest and abdominal wall involvement in Hodgkin's disease.
The objective of this animation is to develop a QTL mapping population for locating and characterizing the genes responsible for resistance to tan spot disease of wheat.
Acquired cystic kidney disease (ACKD), also known as acquired renal cystic disease (ARCD,) occurs in patients who are on dialysis for end-stage renal disease. It is generally accepted that ACKD develops as a consequence of sustained uremia and can first manifest even before dialysis is initiated while the patient is still in chronic renal failure. The role of immune suppression, particularly in transplant recipients, in the development of ACKD, is still under investigation. The prevalence of ACKD is directly related to the duration of dialysis and the risk of cancer is directly related to the presence of cysts. Herein we review the current understanding of the pathophysiology and imaging implications of ACKD. (orig.)
In 15 children (in age 2 weeks - 15 years) the computer tomography beside radiological examination was done because of mediastinal diseases. In all cases the computer tomography was valuable. In 4 cases obtained results have changed diagnostic conclusions. The examples are described showing the usefulness of the computer tomography as supplementary diagnostic method in mediastinal diseases in children.
Background/AimsFabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence...Full Text Available
Pneumococcal disease in young children has not been as well characterized in East Africa as it has been in industrialized countries. Although pneumococci are likely to cause substantial mortality...Full Text Available
...INFORMATION Diarrhoeal disease Food safety and foodborne illness Enterohaemorrhagic Escherichia coli (EHEC) Cholera WHO PROGRAMMES AND ACTIVITIES Child and Adolescent Health and Development (...FOS) Initiative for Vaccine Research (IVR) TECHNICAL INFORMATION Vaccine research: diarrhoeal diseases Cholera Water-related diseases Household water treatment and safe storage WHO Global Salm-Surv ...PUBLICATIONS Diarrhoea: child and adolescent health Diarrhoea: cholera RELATED TOPICS - Child health - Water - Food safety - Cholera - Travel - Breastfeeding ...
... All rickettsial diseases respond to treatment with antibiotics such as doxycycline and tetracycline As of 10 May, the Government of South Africa has reported 186 confirmed cases of RVF in humans, including 18 deaths, in Free State Province, Eastern Cape Province, Northern Cape Province, Western Cape, and North West Province. RVF is a viral disease that primarily affects animals (such as cattle, buffalo, sheep, goats and camels). The disease can also affect humans. The main mode of transmission of RVF ...
In diabetes complications, CCN-2 (known originally as CTGF) has been implicated in diabetic nephropathy both as a marker and a mediator of disease. This commentary addresses CCN-2 in diabetic nephropathy, in the context of the recent publication of the first human study to inhibit CCN-2 bioactivity in diabetic kidney disease.
With reference to three hypotheses on the causes of forest decline, the manifold uses of forest decline surveys are demonstrated. Hypothesis no. 1: Forest disease from high-voltage transmission lines; hypothesis no. 2: Forest disease as the consequence of damage from micorrhizas; hypothesis no. 3: Radioactivity as the cause of the increased incidence of forest disease. (orig./MG)
Dimensional variability studies and published dimensional variability standards have been used by the foundry industry for years as an indicator of the casting process` ability to produce uniform parts. These studies are an extremely useful tool in the continuous ``dimensional dialogue`` between foundries and customers. The nature of these studies, and of the current tolerancing systems used by casting designers, leaves room for some misinterpretation and misuse of these study results. This paper contains two important discussions. The first part explains exactly what these studies represent. Following this is a brief explanation on dimensional and geometric tolerances and how they communicate dimensional requirements.
This research investigates the impact of national culture and several institutional factors on the safety performance of society and establishes statistically significant relationships between those variables. As expected, the research results reveal that some cultural variables such as uncertainty avoidance, gender orientation and institutional variables such as the degree of law avoidance can directly influence the safety performance of the society. The findings also support the inverted u-curve (Safety Kuznet curve) hypothesis indicating even if we expect a negative trend at the beginning stage of industrialization, we can expect a positive trend in safety performance as their income level continues to improve beyond a certain point.
In this talk, we explore the feasibility of quantum computation using continuous-variable systems by means of local measurements only. In the first part of the talk, we will identify crucial limitations that arise when starting from Gaussian cluster states. This is done by resorting to a Gaussian projected entangled pair picture as well as to notions of continuous-variable quantum repeater networks. In the second part, we look at instances in which these limitations can be overcome, and how suitable encodings of qubits in oscillators and feasible non-Gaussian resource states give rise to universal schemes for quantum computing.
Creep properties of modified 9 Cr-1 Mo steel, an alloy significantly improved in elevated-temperature strength over 2 1/4 Cr-1 Mo and other similar alloys, are presented here. Data are primarily on material in the normalized and tempered condition. Effects of variables such as isothermal annealing treatment, cold work, normalizing temperature, tempering temperature, notch, and biaxial stress state have also been examined. Data analysis and comparisons have shown that modified 9 Cr-1 Mo alloy is very insensitive in response to several material variables, heat treatments, and specimen design variables.
Background and ObjectivePulsed dye laser (PDL) treatment of cutaneous vascular lesions is associated with variable and unpredictable efficacy. Thus, alternative treatment...Full Text Available
The proteolytic activities of a disintegrin and metalloproteinase (ADAM); a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS), and matrix metalloproteinase (MMP) families play important...Full Text Available
The fatigue life variability of the #alpha#+#beta# titanium alloy, Ti-6Al-2Sn-4Zr-6Mo increased with decreasing stress level. The variability in life was found to be due to segregation of lives due to two failure mechanisms. A bimodal cumulative distribution model was shown to accurately describe the combined failure modes. The nominal failure processes for the two regimes were similar, with crack nucleation occurring in equiaxed #alpha#p particles, irrespective of life or stress level. However the variability in life was not controlled by the size of the crack-nucleating #alpha#p, but rather by the ability of the material to distribute deformation and avoid early crack nucleation.
the southern Arabian Gulf region left its signature on the heterogeneous aerosol .... Arabian Gulf region, since large differences in ? may be caused by ...
... Variable, Alimentos mal enlatados, especialmente verduras enlatadas en el hogar; pescado fermentado, papas asadas en papel de aluminio, ajo envasado. ...
Brains are usually described as input/output systems: they transform sensory input into motor output. However, the motor output of brains (behavior) is notoriously variable, even under identical sensory...Full Text Available
A central composite design was employed to optimize the extraction of pectin with citric acid. The independent variables were citric acid concentration (0.086-2.91% w/v) and extraction time (17-102min). The combined effect of these variables on the degree of esterification was investigated. Results have shown that the generated regression models adequately explained the data variation and significantly represented the actual relationship between the independent variables and the responses. Besides that, the citric acid concentration was the most important factor to affect the degree of esterification, as it exerted a significant influence on the dependent variable. Lower citric acid concentration increased the pectin degree of esterification. The surface response showed the relationships b...
In this paper we present a complete solution to the problem of multifractal analysis of multiple ergodic averages in the case of symbolic dynamics for functions of two variables depending on the first coordinate.
Worldwide century-long forest hydrologic research has documented that deforestation and forestation (i.e. reforestation and afforestation) can have variable ...
Jul 25, 2011 ... Koji Mukai's Bibliography. Invited Reviews. Mukai, K. 1994, "ASCA PV Phase Observations of Cataclysmic Variables," in "New Horizon of X-ray ...
Background and AimsAnnonaceae are one of the largest families of Magnoliales. This study investigates the comparative floral development of 15 species to understand the basis for...Full Text Available
Statistically based experimental designs were applied to screen and optimize the bioleaching of spent hydrocracking catalyst by Penicillium simplicissimum. Eleven factors were examined for their significance on bioleaching using a Plackett-Burman factorial design. Four significant variables (pulp density, sucrose, NaNO"3, and yeast extract concentrations) were selected for the optimization studies. The combined effect of these variables on metal bioleaching was studied using a central composite design (CCD). Second-order polynomials were established to identify the relationship between the recovery percent of the metals and the four significant variables. The optimal values of the variables for maximum metals bioleaching were as follows: pulp density (4.0%, w/v), sucrose (90g/L), NaNO"3 (2...
Knowledge on environmental variability and how it is affected by disturbances is crucial for understanding patterns of biodiversity and determining adequate conservation strategies. The aim of this study is to assess environmental variability in patches undergoing post-fire vegetation recovery, identifying trends of change and their relevant drivers. We particularly evaluate: the value of three spectral indices derived from Landsat satellite data [Normalized Burn Ratio (NBR), Normalized Difference Vegetation Index (NDVI) and Wetness Component of the Tasseled Cap Transformation (TCW)] for describing secondary succession; the effectiveness of three metrics (diversity, evenness and richness) as indicators of patch variability; and how thematic resolution can affect the perception of environme...
Wildlife Refuge, CA Rare and endangered endemic plants Diana Anderson Northern Arizona University Geomorphology Kathryn Thomas USGS, Flagstaff, AZ Vegetation dynamics John...
Climate variability greatly affects animals through direct and indirect effects. Animals with slow reproductive adaptation to ecological changes such as large mammals are likely to have evolved mechanisms to anticipate early such impacts of climate variability on the environment. One of the adaptive mechanisms between reproductive costs and benefits in mammals affects parental investment through biases in sex ratio. Deer might be likely to show an early detection of climate variability because conception takes place in early autumn, but the main raising cost in deer concerns lactation, which takes place at the end of the following spring. The aim of this paper is to assess whether there is a relationship between global indices of climate variability such as El Ni?o-Southern Oscillation (EN...
The study of genetic variability within natural populations of pathogens may provide insight into their evolution and pathogenesis. We used a Mycobacterium tuberculosis high-density...Full Text Available
The study has analysed the effects of various factors on hydroelectric power generation potential to include climate change/variability, water demand, and installation of proposed hydroelectric power schemes in the Zambezi River Basin. An assessment of historical (1970?2000) power potential in relation to climate change/variability at existing hydro electric power schemes(Cahora Bassa, Kariba, Kafue Gorge and Itezhi-Tezhi) in the Zambezi River Basin was conducted. The correlation of hydroelectric power potential with climate change/variability aimed at observing the link and extent of influence of the latter on the former was investigated. In order to predict the future outlook of hydro electric power potential, General Circulation Models (GCM) were used to generate projected precipitation...
measure meteorological variables and bulk water temper- ature. The locations of the buoys are given in Table 1. TB2 and TB3 were moved slightly farther south ...
We construct the Baxter Q-operator and the representation of the Separated Variables (SoV) for the homogeneous open SL(2,R) spin chain. Applying the diagrammatical approach, we calculate Sklyanin's integration measure in the separated variables and obtain the solution to the spectral problem for the model in terms of the eigenvalues of the Q-operator. We show that the transition kernel to the SoV representation is factorized into the product of certain operators each depending on a single separated variable. As a consequence, it has a universal pyramid-like form that has been already observed for various quantum integrable models such as periodic Toda chain, closed SL(2,R) and SL(2,C) spin chains.
We obtain an elegant and useful description of the dynamics of Szekeres dust models (in their full generality) by means of "quasi--local" scalar variables constructed by suitable integral distributions that can be interpreted as weighed proper volume averages of the local covariant scalars. In terms of these variables, the field equations and basic physical and geometric quantities are formally identical to their corresponding expressions in the spherically symmetric LTB dust models. Since we can map every Szekeres model to a unique LTB model, rigorous results valid for the latter models can be readily generalized to a non--spherical Szekeres geometry. The new variables lead naturally to an initial value formulation in which all scalars are expressed as scaling laws in terms of their values at an arbitrary initial space slice. These variables also yield a significant simplification of numerical work, ...
Abstract Adalimumab is a fully human monoclonal anti-tumor necrosis factor-a agent that is approved for the treatment of Crohn's disease. It has a good safety profile, injection site reactions being the most common adverse effect. We report a case of a 54-year-old woman with a 30-year history of Crohn's disease who developed achromic patches on the trunk and upper extremities after initiating treatment with adalimumab. Cutaneous biopsy confirmed diagnosis of vitiligo and laboratory testing ruled out thyroid disease. Concomitant occurrence of vitiligo and inflammatory bowel disease, although rare, has been described. A common autoimmune basis could explain this fact. Moreover, multiple cutaneous adverse effects have been described in the literature secondary to biologic treatments, includin...
Previous family and twin studies have indicated that Graves' disease has a heritable component. Family studies have also shown that some autoimmune disease cluster in families and genetic studies have been able to show shared susceptibility genes. In the present nation-wide study we describe familial risk for Graves' disease among parents and offspring, singleton siblings, twins and spouses with regard to age of onset, gender and number and type of affected family members. Additionally familial association of Graves' disease with any of 33 other autoimmune and related conditions was analyzed. The Swedish Multigeneration Register on 0-75-year-old subjects was linked to the Hospital Discharge Register from years 1987-2007. Standardized incidence ratios (SIRs) were calculated for individuals ...
We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.
KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...
ALLEYNE G., HANCOCK C. & HUGHES P. (2011) Chronic and non-communicable diseases: a critical challenge for nurses globally. International Nursing Review58, 328-331 Background:- Chronic and non-communicable diseases (NCDs) are a growing and enormous challenge that faces countries across the world. Low- and middle-income countries are disproportionately affected. Contributory factors:- Three risk factors - tobacco use, poor diet (including excessive alcohol intake) and lack of physical activity - contribute to four major chronic diseases - cardiovascular, chronic obstructive pulmonary disease, diabetes and some cancers, which are responsible for over 50% of deaths worldwide. Potential solutions:- International governmental and non-governmental agencies are becoming increasingly concerned and ...
The loss of #alpha#-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of #alpha#-globin gene expression (hemoglobin H disease) in these patients is linked with the #alpha#-globin genes on chromosome 16, the authors transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human #alpha#-globin genes. After transfer to mouse erythroleukemia cells, the expression of human #alpha#-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human #alpha#-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that factor(s) in the mouse ...
Sonography, subtraction scintigraphy, computed tomography and MRI were compared in 100 patients who had surgery 105 times for hyperparathyroidism (HPT). Surgical and pathological data were available for all operations. A total of 105 MR, 77 CT, 84 sonograms and 70 subtraction scintigrams were performed. The ability of the imaging modalities, individually and in combination, to detect HPT, histology, size, concomitant thyroid disease and location of the diseased glands has been evaluated. For primary HPT, sensitivity ranged from 68% for MRI to 40% for scintigraphy but was much lower for tertiary HPT with all modalities. The ability to identify diseased glands was strongly size dependent for all methods. If patients had had previous neck surgery, the most sensitive methods were MRI and scintigraphy and this also held true for patients with concomitant thyroid disease and ectopically located glands. The ...
This report is intended to satisfy two concurrent needs: (1) provide a contract deliverable from Oncorh Consulting to the Washington Department of Fish and Wildlife (WDFW), with emphasis on identification of salient results of value to ongoing Yakima/Klickitat Fisheries Project (YKFP) planning and (2) summarize results of research that have broader scientific relevance. This is the fourth in a series of reports that address reproductive ecological research and monitoring of spring chinook populations in the Yakima River basin. This annual report summarizes data collected between April 1, 2004 and March 31, 2005 and includes analyses of historical baseline data, as well. Supplementation success in the Yakima Klickitat Fishery Project's (YKFP) spring chinook (Oncorhynchus tshawytscha) program is defined as increasing natural production and harvest opportunities, while keeping adverse ecological interactions and genetic impacts within acceptable bounds (Busack et al. 1997). ...
Malformations in farmed fish are a prime research topic as it has a major impact on fish welfare and on the economical value of the product. In this study, the genetic component of spine deformities was estimated in European sea bass, a major species of Mediterranean aquaculture, with the use of a posteriori reconstruction of pedigree with microsatellites. Our population exhibited a very high malformation rate (81%), probably due to intense swimming of fish during pre-growing. The heritability of global spine deformities was evaluated to be 0.21?0.04 on the underlying scale (0.33?0.06 for lordosis, 0.13?0.04 for scoliosis). Deformities scored by an internal or external examination turned out to be genetically the same trait (genetic correlations>0.9), although phenotypic correlations were ...
Biological control agents can be more effective if their populations are genetically diverse, particularly when the target invasive plant comprises a range of genotypes with different susceptibilities and occurs across various microclimates. We report on the use of an efficient approach to find, in the native range, diverse isolates of a rust fungus for biological control. An outdoor trap garden containing various clones of invasive European blackberry (Rubus fruticosus agg.) collected in Australia, each with a different DNA phenotype, was established in France. Within 4?weeks of establishment, the leaf-rust fungus Phragmidium violaceum was recovered from all clones in the garden. Molecular analyses of eight recovered and purified isolates of the fungus from the garden revealed that they w...
Most heat shock proteins (Hsps) function as molecular chaperones that help organisms to cope with stress. Although the best empirical evidence is related to heat shock, there is evidence that Hsps and their encoding genes are involved in resistance to other ecologically relevant types of stresses such as those imposed by high population density. We quantified density-dependent gene expression of large (i.e. Hsp40, Hsc70 and Hsp90) and small (Hsp20.5, Hsp20.6 and Hsp20.7) heat shock genes in neural tissue of fifth-instar nymphs of the Australian plague locust, Chortoicetes terminifera, using reverse transcription-quantitative PCR. Locusts are of particular interest when studying the influence of stress induced by high population density since they show an extreme form of phenotypic plastici...
Severe affective and behavioral dysregulation, labeled as severe mood dysregulation (SMD), is a widely spread phenomenon among adolescent psychiatric patients. This phenotype constitutes severe impairment across multiple settings, including various symptoms, such as non-episodic anger, mood instability, and hyperarousal. Moreover, SMD patients often show depression and reduced need for sleep. Despite a lifetime prevalence of 3.3%, systematic research is still scarce, and treatments that have been established do not account for the range of symptoms present in SMD. Considering the circadian dysfunctions, two hormones, melatonin and cortisol, are essential. When these hormones are dysregulated, the circadian rhythm gets out of synchrony. Since evidence is emerging showing that the worse the ...
Abstract Septins are highly conserved cytoskeletal GTP-binding proteins implicated in numerous cellular processes from apoptosis to vesicle trafficking. Septins have been associated with leukemia and solid tumor malignancies, including breast, ovarian, and prostate. We previously reported that high SEPT9_i1 expression in human mammary epithelial cell lines (HMECs) led to malignant cellular phenotypes such as increased cell proliferation, invasiveness, motility, and genomic instability. Our goal here was to better understand how SEPT9_i1 expression might contribute to genomic instability and malignant progression. First, we confirmed that even transient expression of SEPT9_i1 was sufficient to increase aneuploidy in HMECs. We then analyzed SEPT9_i1 by immunoprecipitation and immunofluoresce...
Survival and growth of terrestrial plants is negatively affected by complete submergence. This is mainly the result of hampered gas exchange between plants and their environment, since gas diffusion is severely reduced in water compared with air, resulting in O2 deficits which limit aerobic respiration. The continuation of photosynthesis could probably alleviate submergence-stress in terrestrial plants, but its potential under water will be limited as the availability of CO2 is hampered. Several submerged terrestrial plant species, however, express plastic responses of the shoot which may reduce gas diffusion resistance and enhance benefits from underwater photosynthesis. In particular, the plasticity of the flooding-tolerant terrestrial species Rumex palustris turned out to be remarkable,...
Abstract A method to grow the halophilic archaeon Haloferax volcanii in microtiter plates has been optimized and now allows the parallel generation of very reproducible growth curves. The doubling time in a synthetic medium with glucose is around 6-h. The method was used to optimize glucose and casamino acid concentrations, to clarify carbon source usage and to analyze vitamin dependence. The characterization of osmotolerance revealed that after a lag phase of 24-h, H. volcanii is able to grow at salt concentrations as low as 0.7-M NaCl, much lower than the 1.4-M NaCl described as the lowest concentration until now. The application of oxidative stresses showed that H. volcanii exhibits a reaction to paraquat that is delayed by about 10-h. Surprisingly, only one of two amino acid auxotrophi...
Recycling of carbon by the photorespiratory pathway involves enzymatic steps in the chloroplast, mitochondria, and peroxisomes. Most of these reactions are essential for plants growing under ambient CO2 concentrations. However, some disruptions of photorespiratory metabolism cause subtle phenotypes in plants grown in air. For example, Arabidopsis thaliana lacking both of the peroxisomal malate dehydrogenase genes (pmdh1pmdh2) or hydroxypyruvate reductase (hpr1) are viable in air and have rates of photosynthesis only slightly lower than wild-type plants. To investigate how disruption of the peroxisomal reduction of hydroxypyruvate to glycerate influences photorespiratory carbon metabolism we analyzed leaf gas exchange in A. thaliana plants lacking peroxisomal HPR1 expression. In addition, b...
The authors have shown that toxicity of paraquat for Escherichia coli is increased over 1-fold in strains defective in the biosynthesis of spermidine compared to isogenic strains containing spermidine. The increased sensitivity of these spermidine-deficient mutants to paraquat is eliminated by growth in medium containing spermidine or by endogenous supplementation of spermidine by the use of a speE"+D"+ plasmid. No paraquat toxicity is seen in the absence of oxygen, even in amine-deficient strains, indicating that superoxide is the agent responsible for the increased toxicity. However, the specific mechanisms responsible for the increased paraquat toxicity in the spermidine-deficient mutants remain to be determined. The marked sensitivity to paraquat of E. coli deficient in spermidine is of particular interest, since such mutants have no other phenotypic properties that can be easily assayed. This increased sensitivity has been used as the basis of a convenient ...
To determine whether PKH26 labeling affects the morphologies, phenotypes, proliferation, and secretion abilities of human umbilical mesenchymal stromal cells (HUMSCs) were investigated. Isolated HUMSCs were labeled with PKH26, and cell morphology was observed under microscope. Cell cycle, apoptotic cell death, expression of PKH26, and the proliferation rate were evaluated. Additionally, fluorescence intensity of PKH26 labeling at different passage times was quantified. There were no detectable differences in cell morphology, cell growth, and proliferation rate after PKH26 labeling. In addition, fluorescence intensity of PKH26 labeling was gradually reduced with increase of the passage times. The PKH26 labeling disappeared after passage six times. In summary, PKH26 labeling is a safe and ef...
Objective: Evidence from adults suggests that changes in thyroid function are associated with the development of bipolar disorder (BD) and severe mood dysregulation. A dysregulation profile based on the Child Behavior Checklist (CBCL-DP) describes a phenotype with severe mood problems in youth. The present study investigated whether altered thyroid functioning in youths is associated with the severe mood dysregulation symptoms characterized by the CBCL-DP. Methods: We analyzed the thyroid function data from 262 children and adolescents (n=262 for serum TSH, n=148 for free triiodothyronine [fT3] and n=153 for free thyroxine [fT4]) with their CBCL-DP composite score. We created and compared high CBCL-DP and low CBCL-DP subgroups with regard to their serum TSH, fT3 and fT4 concentrations as w...
Toadlets of the genus Brachycephalus are endemic to the Atlantic rainforests of southeastern and southern Brazil. The 14 species currently described have snout-vent lengths less than 18mm and are thought to have evolved through miniaturization: an evolutionary process leading to an extremely small adult body size. Here, we present the first comprehensive phylogenetic analysis for Brachycephalus, using a multilocus approach based on two nuclear (Rag-1 and Tyr) and three mitochondrial (Cyt b, 12S, and 16S rRNA) gene regions. Phylogenetic relationships were inferred using a partitioned Bayesian analysis of concatenated sequences and the hierarchical Bayesian method (BEST) that estimates species trees based on the multispecies coalescent model. Individual gene trees showed conflict and also va...
Fibroblast growth factor (FGF) signaling has been shown to regulate lung epithelial development but its influence on mesenchymal differentiation has been poorly investigated. To study the role of mesenchymal FGF signaling in the differentiation of the mesenchyme and its impact on epithelial morphogenesis, we took advantage of Fgfr2c+/? mice, which due to a splicing switch express Fgfr2b in mesenchymal tissues and manifest Apert syndrome-like phenotypes. Using a set of in vivo and in vitro studies, we show that an autocrine FGF10?FGFR2b signaling loop is established in the mutant lung mesenchyme, which has several consequences. It prevents the entry of the smooth muscle progenitors into the smooth muscle cell (SMC) lineage and results in reduced fibronectin and elastin deposition. Levels of...
BackgroundPeritoneal metastasis occurs in up to 30% of patients with gastric cancer. The aim of this experimental study is to develop and validate a novel ex vivo model of the human peritoneum to better identify factors involved in the development of peritoneal metastasis in order to improve its management and prognosis. MethodsPeritoneal discs harvested from hernia sacs obtained at inguinal hernia surgery were suspended in media using Teflon rings. Viability of the tissue was investigated using MTS assay, light and scanning electron microscopy (LM and SEM) over 72 h. To assess validity of the model, phenotypic changes in tumor cells were investigated. Changes in matrix metalloproteinases (MMP)-2 and -9 activities in HGC and AGS gastric adenocarcinoma cells after co-culture were investigat...
Increased levels of epidermal growth factor receptor have been reported in a variety of tumors, including pulmonary squamous cell carcinomas in man. The purpose of this study was to determine if increased levels of epidermal growth factor (EGFR) were present in lung tumors from Beagle dogs that had been exposed to "2"3"9PuO_2- Using immunohistochemical techniques, sections from 17 lung tumors were examined for the presence of EGFR. Seven of the tumors were strongly positive for EGFR; the remainder of the tumors and the normal lung sections were negative. The positive immunostaining could not be correlated with the histologic phenotype of the tumors. Work is in progress to determine the level of EGFR in preneoplastic, proliferative epithelial foci in the Iung. (author)
Myotonic dystrophy type 1 (DM1) is characterized by both a premature appearance of age-related phenotypes and multiple organ involvement, which affects skeletal and smooth muscle as well as the eye, heart, central nervous system, and endocrine system. Although erectile dysfunction (ED) is a frequent complaint in patients with DM1, it has not been investigated in great depth. Hypogonadism, which is reported to be one of the physical causes of ED in the general population, frequently occurs in DM1. We planned this case?control study to evaluate the relationship between hypogonadism, as defined by the sexual hormone profile (FSH, LH, testosterone (T) and prolactin) and ED, as assessed by means of an internationally validated self-administered questionnaire (IIEF). DM1 patients had significant...
Optimization of nonviral gene delivery typically focuses on the design of particulate carriers that are endowed with desirable membrane targeting, internalization, and endosomal escape properties. Topographical control of cell transfectability, however, remains a largely unexplored parameter. Emerging literature has highlighted the influence of cell-topography interactions on modulation of many cell phenotypes, including protein expression and cytoskeletal behaviors implicated in endocytosis. Using high-throughput screening of primary human dermal fibroblasts cultured on a combinatorial library of microscale topographies, we have demonstrated an improvement in nonviral transfection efficiency for cells cultured on dense micropit patterns compared to smooth substrates, as verified with flow...
Prepulse inhibition (PPI) is a measure of sensorimotor gating, a pre-attentional inhibitory brain mechanism that filters extraneous stimuli. Prepulse inhibition is correlated with measures of cognition and executive functioning, and is considered an endophenotype of schizophrenia and other psychiatric illnesses in which patients show PPI impairments. As a first step toward identifying genes that regulate PPI, we performed a quantitative trait locus (QTL) screen of PPI phenotypes in a panel of mouse chromosome substitution strains (CSSs). We identified five CSSs with altered PPI compared with the host C57BL/6J strain: CSS-4 exhibited decreased PPI, whereas CSS-10, -11, -16 and -Y exhibited higher PPI compared with C57BL/6J. These data indicate that A/J chromosomes 4, 10, 11, 16 and Y harbor...
Occurrence of genetic variants during micropropagation is occasionally encountered when the cultures are maintained in vitro for long period. Therefore, the micropropagated multiple shoots of Vanilla planifolia Andrews developed from axillary bud explants established 10 years ago were used to determine somaclonal variation using random amplified polymorphic DNA (RAPD) and intersimple sequence repeats markers (ISSR). One thousand micro-plants were established in soil of which 95 plantlets (consisting of four phenotypes) along with the mother plant were subjected to genetic analyses using RAPD and ISSR markers. Out of the 45 RAPD and 20 ISSR primers screened, 30 RAPD and 7 ISSR primers showed 317 clear, distinct and reproducible band classes resulting in a total of 30 115 bands. However, no ...
The expression of motor activity levels in response to novel situations is under complex genetic and environmental control. Several genetic loci have been implicated in the regulation of this behavioral phenotype, but their relationship to epigenetic and epistatic interactions is relatively unknown. Here, we report on a quantitative trait locus (QTL) on mouse chromosome 1 for novelty-induced motor activity in the open field, using chromosome substitution strains derived from a high active host strain (C57BL/6J) and a low active donor strain (A/J). The QTL for open field (horizontal distance moved) peaked at the location of Kcnj9, however, QTL detection was initially masked by an interplay of both grandparent genetic origin and genetic co-factors influencing behavior on chromosome 1. Our fi...
Studies were carried out on the decolorization of textile azo dyes by newly isolated halophilic and halotolerant bacteria. Among the 27 strains of halophilic and halotolerant bacteria isolated from effluents of textile industries, three showed remarkable ability in decolorizing the widely utilized azo dyes. Phenotypic characterization and phylogenetic analysis based on 16S rDNA sequence comparisons indicate that these strains belonged to the genus Halomonas. The three strains were able to decolorize azo dyes in a wide range of NaCl concentration (up to 20%w/v), temperature (25-40degreeC), and pH (5-11) after 4 days of incubation in static culture. They could decolorize the mixture of dyes as well as pure dyes. These strains also readily grew in and decolorized the high concentrations of dy...
Abstract Previous research has established the comorbidity of adult Attention-Deficit Hyperactivity Disorder (ADHD) with different personality disorders including Borderline Personality Disorder (BPD). The association between adult ADHD and BPD has primarily been investigated at the phenotypic level and not yet at the genetic level. The present study investigates the genetic and environmental contributions to the association between borderline personality traits (BPT) and ADHD symptoms in a sample of 7,233 twins and siblings (aged 18-90 years) registered with the Netherlands Twin Register and the East Flanders Prospective Twin Survey (EFPTS) . Participants completed the Conners' Adult ADHD Rating Scales (CAARS-S:SV) and the Personality Assessment Inventory-Borderline Features Scale (PAI-BO...
Assembly of icosahedral capsids of proper size and symmetry is not understood. Residue F170 in bacteriophage P22 coat protein is critical for conformational switching during assembly. Substitutions at this site cause assembly of tubes of hexamerically arranged coat protein. Intragenic suppressors of the ts phenotype of F170A and F170K coat protein mutants were isolated. Suppressors were repeatedly found in the coat protein telokin-like domain at position 285, which caused coat protein to assemble into petite procapsids and capsids. Petite capsid assembly strongly correlated to the side chain volume of the substituted amino acid. We hypothesize that larger side chains at position 285 torque the telokin-like domain, changing flexibility of the subunit and intercapsomer contacts. Thus, a sing...
SNAP25 occurs on chromosome 20p12.2, which has been linked to schizophrenia in some samples, and recently linked to latent classes of psychotic illness in our sample. SNAP25 is crucial to synaptic functioning, may be involved in axonal growth and dendritic sprouting, and its expression may be decreased in schizophrenia. We genotyped 18 haplotype-tagging SNPs in SNAP25 in a sample of 270 Irish high-density families. Single marker and haplotype analyses were performed in FBAT and PDT. We adjusted for multiple testing by computing q values. Association was followed up in an independent sample of 657 cases and 411 controls. We tested for allelic effects on the clinical phenotype by using the method of sequential addition and 5 factor-derived scores of the OPCRIT. Nine of 18 SNPs had P values <...
Synthesis of silver nanoparticles based on a polyol process and variable frequency microwave (VFM) was investigated. Comparing to a thermal method, the reaction by VFM radiation was much faster. The effects of silver nitrate concentration, poly(N-vinylpyrrolidone) (PVP) concentration, reaction time and reaction temperature were studied. It was found that the higher concentration of silver nitrate, longer reaction time and higher temperature increased the particle size while the higher concentration of PVP decreased the particle size.
A physical model of free-electron laser (FEL) amplifier with variable-parameter wiggler magnets for one-dimensional numerical simulation is presented and a numerical example is given. The wiggler parameters, efficiency of energy conversion between electron beam and laser field, laser intensity, phase-space distributions and energy spectrum of electrons are computed. The period of synchronous oscillation and saturation value of laser intensity agree with estimated one.
In the case of large capacity steam turbines the conventional nozzle group control is, for mechanical and thermodynamic reasons, diminishing more and more in importance in favour of variable pressure control. A design for constant-pressure operation as an alternative to nozzle group control is described; this demonstrates a series of important advantages compared with the latter. (orig.).
This book contains the Proceedings of the Conference on Climate and Water under the following groupings: Impacts of climatic variability and change-resulting from the changes in hydrological variables; Aquatic environment; Terrestrial environment; Coastal zones and navigation; Urban and industrial water supply and drainage; Energy production; Intropogenic changes of climate and water management problems; Flood potential; Irrigation and land drainage.
This book contains the Proceedings of the Conference on Climate and Water under the following groupings: Impacts of climatic variability and change-resulting from the changes in hydrological variables; Aquatic environment; Terrestrial environment; Coastal zones and navigation; Urban and industrial water supply and drainage; Energy production; Intropogenic changes of climate and water management problems; Flood potential; Irrigation and land drainage.
Two major developments have given impetus to wider adoption of variable-speed turbine/generators in hydroelectric plants, both essentially environmental: (1) the need for stream-bed stability below river dams, and (2) the need to minimize fish damage. Also, the need to stabilize pumped-storage and generating efficiencies to match extreme changes in head levels has been a driving force. Variable-speed operation in hydro applications is relatively new to North America. In other parts of the world, it has been used in pumped-storage plants since 1971. In the US, and increasing potential exists for variable-speed hydro, considering the 30 pumped-storage plants already in operation and several river plants struggling with high head fluctuations--including four at stations operated by the Bonneville Power Administration. Several modifications to hydro-plant hardware and operating procedures are actively being considered at ...
The effect of fetal distress on the neonatal brain was investigated by neonatal CT brain scan, FHR monitoring and mode of delivery. This study involved 11 cases of full term vertex delivery in which FHR was recorded by fetal direct ECG during the second stage labor. All infants weighed 2,500 g or more. FHR monitoring was evaluated by Hon's classification. Neonatal brain edema was evaluated by cranial CT histgraphic analysis (Nakada's method). 1) Subdural hemorrhage was noted in 6 of 7 infants delivered by vacuum extraction or fundal pressure (Kristeller's method). 2) Intracranial hemorrhage was demonstrated in all of 3 infants with 5-min. Apgar score 7 or less. 3) Two cases with prolonged bradycardia and no variability had intraventricular or intracerebral hemorrhage which resulted in severe central nervous system damage. 4) The degree of neonatal brain edema correlated with 5-min. Apgar score. 5) One case with prolonged bradycardia and ...
The effect of fetal distress on the neonatal brain was investigated by neonatal CT brain scan, FHR monitoring and mode of delivery. This study involved 11 cases of full term vertex delivery in which FHR was recorded by fetal direct ECG during the second stage labor. All infants weighed 2,500 g or more. FHR monitoring was evaluated by Hon's classification. Neonatal brain edema was evaluated by cranial CT histgraphic analysis (Nakada's method). 1) Subdural hemorrhage was noted in 6 of 7 infants delivered by vacuum extraction or fundal pressure (Kristeller's method). 2) Intracranial hemorrhage was demonstrated in all of 3 infants with 5-min. Apgar score 7 or less. 3) Two cases with prolonged bradycardia and no variability had intraventricular or intracerebral hemorrhage which resulted in severe central nervous system damage. 4) The degree of neonatal brain edema correlated with 5-min. Apgar score. 5) One case with prolonged bradycardia and no ...
As a consequence of the expanded use of long term hemodialysis and continuous ambulatory peritoneal dialysis (CAPD) treatments and extended life spans, complications of end-stage renal disease and dialysis treatments are being encountered with increasing frequency in these patients. Computed tomography can accurately depict many of the potential complications of end-stage renal disease on dialysis. This article presents the abdominal CT findings of 429 end-stage renal disease patients who are on either hemodialysis or continuous ambulatory peritoneal dialysis treatment.
A number of herbal drugs are used in the Unani (Greco-Arab) System of Medicine for cardiovascular diseases. The herbs were analyzed by flame AAS and ICP-AES to determine if their therapeutic actions can be associated with the elements present in them. Cadmium, cobalt, chromium, copper, iron, potassium, magnesium, manganese, sodium, nickel, phosphorus, lead and zinc were some of the elements which play various roles in cardiovascular affections. An effort was made to correlate the role of these elements in cardiac diseases. (Auth.). 2 tabs., 32 refs.
An overview of current concepts on neuroinflammation and on the dialogue between neurons and non-neuronal cells in three important infections of the central nervous systems (rabies, cerebral malaria, and human African trypanosomiasis or sleeping sickness) is here presented. Large numbers of cases affected by these diseases are currently reported. In the context of an issue dedicated to Camillo Golgi, historical notes on seminal discoveries on these diseases are also presented. Neuroinflammation is currently closely associated with pathogenetic mechanisms of chronic neurodegenerative diseases. Neuroinflammatory signaling in brain infections is instead relatively neglected in the neuroscience community, despite the fact that the above infections provide paradigmatic examples of alterations o...
We report the cranial CT and MRI findings in three children with Lyme disease (neuroborreliosis). The neuroimaging findings in children have been rarely reported. We found cranial MRI far superior to cranial CT. Ring-enhancing lesions have been described in acute disseminating encephalomyelitis and multiple sclerosis but not in neuroborreliosis. Although other infectious and inflammatory diseases cannot be excluded, Lyme disease should be included in the differential diagnosis and put forward as being the most likely diagnosis in the appropriate clinical setting. Gadopentetate dimeglumine is helpful in assessing the response to antibiotic treatment. (orig.)
The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)
We report here the imaging findings of a rare case of a lethal form of Gorham disease in a young female patient. Multimodality imaging findings over 13 year-follow-up demonstrated progressive wide spread skeletal and soft tissue abnormalities with permeative osteolysis, pathological fractures and severe skeletal deformities. Unusual extensive osseous and soft tissue pneumatosis was illustrated on cross-sectional studies. The progressive nature of this form of Gorham disease and the subsequent complications eventually culminated in patient's death. (orig.)
We report here the imaging findings of a rare case of a lethal form of Gorham disease in a young female patient. Multimodality imaging findings over 13 year-follow-up demonstrated progressive wide spread skeletal and soft tissue abnormalities with permeative osteolysis, pathological fractures and severe skeletal deformities. Unusual extensive osseous and soft tissue pneumatosis was illustrated on cross-sectional studies. The progressive nature of this form of Gorham disease and the subsequent complications eventually culminated in patient's death. (orig.)
Objectives: The purpose of this work was to study the genetic determinants responsible for extended-spectrum beta-lactamase (ESBL) resistance of Salmonella isolated from Dutch poultry, poultry meat and hospitalized humans. Methods: Thirty-four ESBL-resistant Salmonella isolates from The Netherlands were tested towards 21 antimicrobial agents. PCR and sequencing were used to determine the underlying genetic determinants responsible for the ESBL phenotypes. The transferability of the ESBL phenotypes was tested by conjugation to a susceptible Salmonella enterica serovar Dublin and plasmid purification, restriction fragment length polymorphism (RFLP) and pulsed-field gel electrophoresis (PFGE) were employed to further characterize a subset of the isolates. Results: A great genetic diversity was seen among the isolates. The bla(TEM-52) gene was most predominant and was found among Salmonella enterica serovars Blockley, Thomson, London, Enteritidis ...
The effect of insulin on protein biosynthesis was examined in differentiated 3T3-L1 and 3T3-F442A adipocytes. Insulin altered the relative rate of synthesis of specific proteins independent of its ability to hasten conversion of the fibroblast (preadipocyte) phenotype to the adipocyte phenotype. Although more than one pattern of response to insulin was observed, the authors focused on the induction of a Mr 33,000 protein which was identified as the glycolytic enzyme glyceraldehyde-3-phosphate dehydrogenase (GAPDH). Exposure of 3T3 adipocytes to insulin throughout differentiation specifically increased GAPDH activity and protein content by 2- to 3-fold as compared to 3T3 adipocytes differentiated in the absence of insulin. These changes in enzyme activity and content could be accounted for by a 4-fold increase in the relative rate of synthesis of GAPDH and a 9-fold increase in hybridizable mRNA levels. Within 2 h of insulin addition to 3T3 ...
A 36-year-old woman underwent amniocentesis for advanced maternal age. The fetal karyotype had an extra dark staining G band on the long arm of chromosome 11 with no other identifiable abnormalities. FISH studies using a chromosome 11 paint probe confirmed the origin of the extra band. The abnormality was identified as a partial duplication of 11q: 46,XX dir dup (11)(q13.5q21) or (q21q23.1). The specific duplicated band could not be identified with certainty. Detailed fetal sonograms were normal. Family studies revealed the identical duplication in the mother but normal karyotypes in both maternal grandparents. The mother had strabismus and a short tongue frenulum which required surgical correction. Menses occurred late in adolescence and complete development of secondary sexual characteristics was delayed until adulthood. An infertility evaluation revealed duplication of the uterus, cervix, and vagina. An evaluation for metorrhagia identified a pituitary adenoma which was resected. ...
Twenty-six unclassified Campylobacter-like strains previously isolated from 15 chicken carcasses and caecal contents, together with two more strains isolated from chicken faeces on a different occasion, were identified as Helicobacter pullorum using various phenotypic identification methods. API Campy identification kits and a 16-test identification scheme developed for campylobacters failed to identify these bacteria, or identified them as Campylobacter spp. Eighteen strains (including the two isolated on a different occasion) were chosen for examination using a more comprehensive probabilistic identification scheme. Using this method, 14 of the 18 strains were identified as H. pullorum with ID scores > 95%; two strains were also identified as H. pullorum with lower ID scores. Of the remaining two strains, one was not identified with this scheme and the other was misidentified to the H, acinonyx pylori complex. Whole cell protein profiling by SDS-PAGE confirmed ...
IL-4-induced Stat6 signaling is active in a variety of cell types and plays a role in cell proliferation/growth and resistance to apoptosis. Using EMSA, we identified differential IL-4/Stat6 activities in colorectal cancer cell lines, HT-29 being active Stat6"h"i"g"h phenotype and Caco-2 being defective Stat6"n"u"l"l phenotype, respectively. Active Stat6"h"i"g"h HT-29 cells exhibited resistance to apoptosis by flowcytometry and aggressive metastasis by Transwell assay compared with defective Stat6"n"u"l"l Caco-2 cells. Comparing one another using RT-PCR, Stat6"h"i"g"h HT-29 cells expressed more mRNA of anti-apoptotic and pro-metastatic genes Survivin, MDM2, and TMPRSS4, while Stat6"n"u"l"l Caco-2 cells expressed more mRNA of pro-apoptotic and anti-metastatic genes BAX, CAV1, and P53, respectively. This is the first study describing correlations of IL-4/Stat6 activities with apoptosis and metastasis in colon cancer. These findings, together with ...
... United States, there are 14 million people with diabetes and while most will not lose their vision ... good deal higher among people with Type I diabetes -- the type that usually begins in childhood and ...
Viral infections are frequently cited as a major environmental factor involved in subacute thyroiditis and autoimmune thyroid diseases This review examines the data related to the role of viruses in...Full Text Available
Dengue, a major public health problem throughout subtropical and tropical regions, is an acute infectious disease characterized by biphasic fever, headache, pain in various parts of the body, prostration,...Full Text Available
Mitochondria are the major sites where energy is produced in the cell. Functions of organs such as the heart which has high energy demand are seriously affected by dysfunction of mitochondria....Full Text Available
Mitochondrial dysfunction has been implicated in premature aging, age-related diseases, and tumor initiation and progression. Alterations of the mitochondrial genome accumulate both in aging tissue...Full Text Available
With advances in treatment, colorectal cancer is being transformed from a deadly disease to an illness that is increasingly curable. With this transformation has come increased interest in the...Full Text Available
The extent (density and diameter) of the native (preexisting) collateral circulation in healthy tissues and the capacity of collaterals to enlarge/remodel in obstructive arterial disease are important...Full Text Available
Mycosis fungoides (MF) in deep-seated lymph nodes, spleen or liver appears to be associated with a lack of response of the disease to topical external therapy. Fourteen patients with mycosis fungoides...Full Text Available
Spatial epidemiology is the description and analysis of geographic variations in disease with respect to demographic, environmental, behavioral, socioeconomic, genetic, and infectious risk factors....Full Text Available
To examine the possibility that mast cells have a central role in the pathogenesis of hypersensitivity pneumonitis, 20 patients with this disease were studied with the aim of seeking evidence for mast...Full Text Available
Knowledge about retinal photoreceptor signal transduction and the visual cycle required for normal eyesight has expanded exponentially over the past decade. Substantial progress in human genetics...Full Text Available
The current therapy for extrinsic and intrinsic asthma, together with that of ‘wheezing bronchitis’, is presented, with special attention to bronchodilators and adrenocorticosteroids....Full Text Available
BackgroundBrucellosis is a zoonosis of veterinary, public health and economic significance in most developing countries. Human brucellosis is a severely debilitating disease that...Full Text Available
BackgroundProvision of consumer information and patient education are considered an essential part of chronic disease management programmes developed for patients with heart failure....Full Text Available
The Agency for Toxic Substances and Disease Registry (ATSDR) is a public health agency with responsibility for assessing the public health implications associated with uncontrolled releases of hazardous...Full Text Available
BackgroundHealth service databases of administrative type can be a useful tool for the study of progression of a disease, but the data reported in such sources could be affected...Full Text Available
Paratuberculosis (Johne's disease) is a chronic, wasting, widespread mycobacteriosis of ruminants. It involves extensive mycobacterial shedding, which accounts for the high contagiousness, and ends...Full Text Available
Obesity is characterized by the abnormal or excessive deposition of fat in the adipose tissue. Its consequences go far beyond adverse metabolic effects on health, causing an increase in oxidative stress,...Full Text Available
BackgroundThe ongoing epidemiological transition in Mexico minimizes the relative impact of neurocysticercosis (NC) on public health. However, hard data on the disease frequency...Full Text Available
Various control procedures have been suggested for reducing foodborne infectious diseases. Receiving considerable attention is irradiation. This report estimates the medical and wage (or productivity) benefits associated with prevention of five human diseases transmitted by beef, pork, and chicken. (These diseases can also be transmitted by other vectors, such as eggs, milk, and pets. But these sources are not included in the analysis.) All of these foodborne infectious diseases - salmonellosis, campylobacteriosis, trichinosis, tapeworm, and toxoplasmosis - could be significantly reduced by irradiating meat and poultry. The Food and Drug Administration (FDA) has just approved irradiation of pork to prevent trichinosis (50FR 29658-59) and is considering approval of irradiation of chicken to kill Salmonella. 22 references.
Numerous reports of chronic renal disease in patients who habitually use phenacetin-containing compounds to excess have aroused considerable controversy over the possible relationship between phenacetin,...Full Text Available
Hyperglycemia frequently occurs with acute medical illness, especially among patients with cardiovascular disease, and has been linked to increased morbidity and mortality in critically ill patients....Full Text Available
... elevated blood sugar levels, but not full-blown diabetes. What are the keys to preventing the disease? ... been well studied, in a study called The Diabetes Prevention Program, in several thousand people with this ...
Although the cause and development of most inflammatory and fibrotic interstitial lung diseases are unknown, both the antigenic stimuli and the immunopathogenic mechanisms that produce the syndrome...Full Text Available
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The eye is an easily accessible, highly compartmentalised and immune-privileged organ that offers unique advantages as a gene therapy target. Significant advancements have been made in understanding...Full Text Available
Background and objectives: Despite potential significance of fatigue and its underlying components in the occurrence of cardiovascular diseases, epidemiologic data showing the link are virtually limited....Full Text Available
Periodontitis is an infectious process characterized by inflammation affecting the supporting structures of the teeth. Porphyromonas gingivalis is a major oral bacterial species implicated...Full Text Available
The regulation of blood vessel formation is of fundamental importance to many physiological processes, and angiogenesis is a major area for novel therapeutic approaches to diseases from ischemia to...Full Text Available
Background:People with severe and persistent mental illness need help in most aspects of their lives, as the disability associated with these diseases can be debilitating....Full Text Available
Two Chinese infants had cytomegalovirus inclusion disease presenting as persistent pneumonia and thrombocytopenic purpura, respectively. Both had lymphadenopathy, hepatosplenomegaly, pneumonia, and...Full Text Available
BackgroundAlthough advances in rehydration therapy have made cholera a treatable disease with low case-fatality in settings with appropriate medical care, cholera continues...Full Text Available
The biosynthesis of insect juvenile hormone (JH) and its neuroendocrine control are attractive targets for chemical control of insect pests and vectors of disease. To facilitate the molecular...Full Text Available
Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available
Primary cardiac angiosarcoma is a rare cardiac tumor. The initial clinical course is often asymptomatic, and metastatic disease is present in a majority of affected patients at diagnosis. We present...Full Text Available
Emerging evidence indicates that impaired cellular energy metabolism is the defining characteristic of nearly all cancers regardless of cellular or tissue origin. In contrast to normal cells, which...Full Text Available
BackgroundFunction exertion of specific proteins are key factors in disease progression, thus the systematical identification of those specific proteins is a prerequisite to understand...Full Text Available