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Sample records for leptosphaeria maculans disease

  1. Recurring Challenges from a Necrotrophic Fungal Plant Pathogen: a Case Study with Leptosphaeria maculans (Causal Agent of Blackleg Disease in Brassicas) in Western Australia

    OpenAIRE

    Sivasithamparam, Krishnapillai; BARBETTI, MARTIN J.; Li, Hua

    2005-01-01

    • Background Blackleg disease of Brassica napus, caused by the necrotrophic fungus Leptosphaeria maculans, causes severe yield losses in Australia, Europe and Canada. In Western Australia, it nearly destroyed the oilseed rape industry in 1972 when host genotypes and conducive environmental conditions favoured severe epidemics. The introduction of cultivars with polygenic resistance and the adoption of sound cultural practices two decades later helped to manage the disease. These were abandone...

  2. Blackleg (Leptosphaeria maculans) Severity and Yield Loss in Canola in Alberta, Canada

    OpenAIRE

    Sheau-Fang Hwang; Strelkov, Stephen E.; Gary Peng; Hafiz Ahmed; Qixing Zhou; George Turnbull

    2016-01-01

    Blackleg, caused by Leptosphaeria maculans, is an important disease of oilseed rape (Brassica napus L.) in Canada and throughout the world. Severe epidemics of blackleg can result in significant yield losses. Understanding disease-yield relationships is a prerequisite for measuring the agronomic efficacy and economic benefits of control methods. Field experiments were conducted in 2013, 2014, and 2015 to determine the relationship between blackleg disease severity and yield in a susceptible c...

  3. Genome-wide Association Study Identifies New Loci for Resistance to Leptosphaeria maculans in Canola

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    Harsh Raman

    2016-10-01

    Full Text Available Blackleg, caused by Leptosphaeria maculans, is a significant disease which affects the sustainable production of canola. This study reports a genome-wide association study based on 18,804 polymorphic SNPs to identify loci associated with qualitative and quantitative resistance to L. maculans. Genomic regions delimited with 503 significant SNP markers, that are associated with resistance evaluated using 12 single spore isolates and pathotypes from four canola stubble were identified. Several significant associations were detected at known disease resistance loci including in the vicinity of recently cloned Rlm2/LepR3 genes, and at new loci on chromosomes A01/C01, A02/C02, A03/C03, A05/C05, A06, A08, and A09. In addition, we validated statistically significant associations on A01, A07 and A10 in four genetic mapping populations, demonstrating that GWAS marker loci are indeed associated with resistance to L. maculans. One of the novel loci identified for the first time, Rlm12, conveys adult plant resistance and mapped within 13.2 kb from Arabidopsis R gene of TIR-NBS class. We showed that resistance loci are located in the vicinity of R genes of A. thaliana and B. napus on the sequenced genome of B. napus cv. Darmor-bzh. Significantly associated SNP markers provide a valuable tool to enrich germplasm for favorable alleles in order to improve the level of resistance to L. maculans in canola.

  4. Metabolism and metabolites of dithiocarbamates in the plant pathogenic fungus Leptosphaeria maculans.

    Science.gov (United States)

    Pedras, M Soledade C; Sarma-Mamillapalle, Vijay K

    2012-08-15

    Synthetic compounds containing a dithiocarbamate group are known to have a variety of biological effects and applications including antifungal, herbicidal, and insecticidal application. Leptosphaeria maculans is a fungal pathogen of crucifers able to detoxify efficiently the only plant natural product containing a dithiocarbamate group, the phytoalexin brassinin. To evaluate the effects of dithiocarbamates on L. maculans, a number of structurally diverse S-methyl dithiocarbamates containing indolyl, biphenyl, and benzimidazolyl moieties were synthesized, and their antifungal activities and metabolism by L. maculans were investigated. All dithiocarbamates were transformed by L. maculans through hydrolysis to the corresponding amines, which were less antifungal than the parent compounds. Two dithiocarbonates were shown to be much less antifungal than the corresponding dithiocarbamates. Results of this investigation indicate that S-methyl dithiocarbamates are not useful inhibitors of L. maculans and that their rates of transformation by L. maculans did not correlate with the antifungal activity of the particular compound.

  5. Genomic advances will herald new insights into the Brassica: Leptosphaeria maculans pathosystem.

    Science.gov (United States)

    Hayward, A; McLanders, J; Campbell, E; Edwards, D; Batley, J

    2012-03-01

    The study of the relationship between plants and phytopathogenic fungi is one of the most rapidly moving fields in the plant sciences, the findings of which have contributed to the development of new strategies and technologies to protect crops. Plants employ sophisticated mechanisms to perceive and appropriately defend themselves against pathogens. A good example of plant and pathogen evolution is the gene-for-gene interaction between the fungal pathogen Leptosphaeria maculans, the causal agent of blackleg disease, and Brassica crops. This interaction has been studied at the genetic and physiological level due to its agro-economic importance. The newly available genome sequence for Brassica spp. and L. maculans will provide the resources to study the co-evolution of this plant and pathogen. Particularly, an understanding of the co-evolution of genes responsible for virulence and resistance will lead to improved plant protection strategies for Brassica canola and provide a model to understand plant-pathogen interactions in other major crops. This review summarises the research-to-date in the study of the Brassica-L. maculans gene-for-gene interaction, with a focus on the genetics of resistance in Brassica and the wealth of information to be gained from genome sequencing efforts.

  6. Towards a durable management of genetic resistances to Leptosphaeria maculans

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    Pinochet Xavier

    2003-05-01

    Full Text Available Blackeg is the major disease of winter oilseed rape in France. For an efficient control of the disease several tools could be combined, but mainly plant breeding has been used to increase winter oilseed rape resistance to blackleg. A useful step was reached in the nineties, using a specific resistance gene (Rlm1. After being widely used this resistance was broken down by an increase of the virulent sub-populations of the fungus. Such a situation worried the different actors and raised the question of the promotion of a durable management of genetic resistances to Leptosphaeria. After a synthetic presentation of the state of the art in the fields of genetics of resistance, of Leptosphaeria populations and on agronomic practices able to control the pathogen, the promotion of a durable management of resistances is discussed. This target needs to precise the strategy, to improve methodologies to characterise genotypes, to promote proper agronomic practices, to follow Leptosphaeria population behaviour and to motivate economic actors.

  7. Comparative transcriptomic analysis of virulence factors in Leptosphaeria maculans during compatible and incompatible interactions with canola

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    Humira Sonah

    2016-12-01

    Full Text Available Leptosphaeria maculans is a hemibiotrophic fungus that causes blackleg of canola (Brassica napus, one of the most devastating diseases of this crop. In the present study, transcriptome profiling of L. maculans was performed in an effort to understand and define the pathogenicity genes that govern both the biotrophic and the necrotrophic phase of the fungus, as well as those that separate a compatible from an incompatible interaction. For this purpose, comparative RNA-seq analyses were performed on L. maculans isolate D5 at four different time points following inoculation on susceptible cultivar Topas-wild or resistant near isogenic line Topas-Rlm2. Analysis of 1.6 billion Illumina reads readily identified differentially expressed genes that were over represented by candidate secretory effector proteins, CAZymes, and other pathogenicity genes. Comparisons between the compatible and incompatible interactions led to the identification of 28 effector proteins whose chronology and level of expression suggested a role in the establishment and maintenance of biotrophy with the plant. These included all known Avr genes of isolate D5 along with eight newly characterized effectors. In addition, another 15 effector proteins were found to be exclusively expressed during the necrotrophic phase of the fungus, which supports the concept that L. maculans has a separate and distinct arsenal contributing to each phase. As for CAZymes, they were often highly expressed at 3 dpi but with no difference in expression between the compatible and incompatible interactions, indicating that other factors were necessary to determine the outcome of the interaction. However, their significantly higher expression at 11 dpi in the compatible interaction confirmed that they contributed to the necrotrophic phase of the fungus. A notable exception was LysM genes whose high expression was singularly observed on the susceptible host at 7 dpi. In the case of TFs, their higher

  8. Pseudothecial maturation and ascospore release of Leptosphaeria maculans and L. biglobosa in south-east Poland

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    Adam Dawidziuk

    2012-12-01

    Full Text Available Stem canker of brassicas is a severe disease of oilseed rape in Australia, Canada and Europe, including Poland. The disease is caused by Leptosphaeria maculans and L. biglobosa - two pathogens belonging to the class Dothideomycetes. The species differ in pathogenicity, but they have identical shape and size of fruiting bodies and spores of the generative and vegetative stages. Both pathogens are often found together in infected tissues of oilseed rape plants. The main goal of the experiments was to measure the rate of pseudothecial maturation and to monitor ascospore concentration of L. maculans and L. biglobosa in air samples. The paper is the first investigation on the generative stage development of these two species in south-east Poland. The studies were done for three consecutive years (2005-2007, for six most important months in pathogen development and plant infection, including 3 months in the spring (March - May and 3 months in the autumn (September - November. The stage of pseudothecial maturation was assessed visually, based on the development of asci and ascospores. Monitoring of spore concentration in the air was performed using a Hirst-type 7-day volumetric trap. It was proved that differences in pseudothecial maturation rate in south-east Poland, encompassing the climatic regions of the Carpathian Foothills and Cracow, do not exceed two weeks within one season. The first and the highest ascospore concentration dates depended on weather conditions in a particular season. The total number of spores during the studied seasons varied from 9 to 12 spores/m3, which was from 70 to 90 times lower than the average from five other monitoring sites around Poland. The short exposition to spore showers and very small concentrations of L. maculans and L. biglobosa ascospores in air samples were the most probable reasons for relatively small damage of oilseed rape crops by stem canker in the south-east part of Poland.

  9. Blackleg (Leptosphaeria maculans Severity and Yield Loss in Canola in Alberta, Canada

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    Sheau-Fang Hwang

    2016-07-01

    Full Text Available Blackleg, caused by Leptosphaeria maculans, is an important disease of oilseed rape (Brassica napus L. in Canada and throughout the world. Severe epidemics of blackleg can result in significant yield losses. Understanding disease-yield relationships is a prerequisite for measuring the agronomic efficacy and economic benefits of control methods. Field experiments were conducted in 2013, 2014, and 2015 to determine the relationship between blackleg disease severity and yield in a susceptible cultivar and in moderately resistant to resistant canola hybrids. Disease severity was lower, and seed yield was 120%–128% greater, in the moderately resistant to resistant hybrids compared with the susceptible cultivar. Regression analysis showed that pod number and seed yield declined linearly as blackleg severity increased. Seed yield per plant decreased by 1.8 g for each unit increase in disease severity, corresponding to a decline in yield of 17.2% for each unit increase in disease severity. Pyraclostrobin fungicide reduced disease severity in all site-years and increased yield. These results show that the reduction of blackleg in canola crops substantially improves yields.

  10. Blackleg (Leptosphaeria maculans) Severity and Yield Loss in Canola in Alberta, Canada

    Science.gov (United States)

    Hwang, Sheau-Fang; Strelkov, Stephen E.; Peng, Gary; Ahmed, Hafiz; Zhou, Qixing; Turnbull, George

    2016-01-01

    Blackleg, caused by Leptosphaeria maculans, is an important disease of oilseed rape (Brassica napus L.) in Canada and throughout the world. Severe epidemics of blackleg can result in significant yield losses. Understanding disease-yield relationships is a prerequisite for measuring the agronomic efficacy and economic benefits of control methods. Field experiments were conducted in 2013, 2014, and 2015 to determine the relationship between blackleg disease severity and yield in a susceptible cultivar and in moderately resistant to resistant canola hybrids. Disease severity was lower, and seed yield was 120%–128% greater, in the moderately resistant to resistant hybrids compared with the susceptible cultivar. Regression analysis showed that pod number and seed yield declined linearly as blackleg severity increased. Seed yield per plant decreased by 1.8 g for each unit increase in disease severity, corresponding to a decline in yield of 17.2% for each unit increase in disease severity. Pyraclostrobin fungicide reduced disease severity in all site-years and increased yield. These results show that the reduction of blackleg in canola crops substantially improves yields. PMID:27447676

  11. Migration patterns and changes in population biology associated with the worldwide spread of the oilseed rape pathogen Leptosphaeria maculans.

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    Dilmaghani, A; Gladieux, P; Gout, L; Giraud, T; Brunner, P C; Stachowiak, A; Balesdent, M-H; Rouxel, T

    2012-05-01

    Pathogen introductions into novel areas can lead to the emergence of new fungal diseases of plants. Understanding the origin, introduction pathways, possible changes in reproductive system and population size of fungal pathogens is essential in devising an integrated strategy for the control of these diseases. We used minisatellite markers to infer the worldwide invasion history of the fungal plant pathogen Leptosphaeria maculans, which causes stem canker (blackleg) of oilseed and vegetable brassicas. Clustering analyses partitioned genotypes into distinct populations corresponding to major geographic regions, along with two differentiated populations in Western Canada. Comparison of invasion scenarios using Approximate Bayesian Computation suggested an origin of the pathogen in the USA, the region where epidemics were first recorded, and independent introductions from there over the last few decades into Eastern Canada (Ontario), Europe and Australia. The population in Western Canada appeared to be founded from a source in Ontario and the population in Chile resulted from an admixture between multiple sources. A bottleneck was inferred for the introduction into Western Canada but not into Europe, Ontario or Australia. Clonality appeared high in Western Canada, possibly because environmental conditions there were less conducive to sexual reproduction. Leptosphaeria maculans is a model invasive pathogen with contrasting features in different regions: shallow population structure, high genetic variability and regular sexual recombination in some regions, by comparison with reduced genetic variability, high rates of asexual multiplication, strong population structure or admixture in others.

  12. The receptor-like kinase SOBIR1 interacts with Brassica napus LepR3 and is required for Leptosphaeria maculans AvrLm1-triggered immunity

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    Lisong eMa

    2015-10-01

    Full Text Available AbstractThe fungus Leptosphaeria maculans (L. maculans is the causal agent of blackleg disease of canola/oilseed rape (Brassica napus worldwide. We previously reported cloning of the B. napus blackleg resistance gene, LepR3, which encodes a receptor-like protein. LepR3 triggers localised cell death upon recognition of its cognate Avr protein, AvrLm1. Here, we exploited the Nicotiana benthamiana model plant to investigate the recognition mechanism of AvrLm1 by LepR3. Co-expression of the LepR3/AvrLm1 gene pair in N. benthamiana resulted in development of a hypersensitive response (HR. However, a truncated AvrLm1 lacking its indigenous signal peptide was compromised in its ability to induce LepR3-mediated HR, indicating that AvrLm1 is perceived by LepR3 extracellularly. Structure-function analysis of the AvrLm1 protein revealed that the C-terminal region of AvrLm1 was required for LepR3-mediated HR in N. benthamiana and for resistance to L. maculans in B. napus. LepR3 was shown to be physically interacting with the B. napus receptor like kinase, SOBIR1 (BnSOBIR1. Silencing of NbSOBIR1 or NbSERK3 (BAK1 compromised LepR3-AvrLm1-dependent HR in N. benthamiana, suggesting that LepR3-mediated resistance to L. maculans in B. napus requires SOBIR1 and BAK1/SERK3. Using this model system, we determined that BnSOBIR1 and SERK3/BAK1 are essential partners in the LepR3 signalling complex and were able to define the AvrLm1 effector domain.

  13. Epigenetic control of effector gene expression in the plant pathogenic fungus Leptosphaeria maculans.

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    Jessica L Soyer

    2014-03-01

    Full Text Available Plant pathogens secrete an arsenal of small secreted proteins (SSPs acting as effectors that modulate host immunity to facilitate infection. SSP-encoding genes are often located in particular genomic environments and show waves of concerted expression at diverse stages of plant infection. To date, little is known about the regulation of their expression. The genome of the Ascomycete Leptosphaeria maculans comprises alternating gene-rich GC-isochores and gene-poor AT-isochores. The AT-isochores harbor mosaics of transposable elements, encompassing one-third of the genome, and are enriched in putative effector genes that present similar expression patterns, namely no expression or low-level expression during axenic cultures compared to strong induction of expression during primary infection of oilseed rape (Brassica napus. Here, we investigated the involvement of one specific histone modification, histone H3 lysine 9 methylation (H3K9me3, in epigenetic regulation of concerted effector gene expression in L. maculans. For this purpose, we silenced the expression of two key players in heterochromatin assembly and maintenance, HP1 and DIM-5 by RNAi. By using HP1-GFP as a heterochromatin marker, we observed that almost no chromatin condensation is visible in strains in which LmDIM5 was silenced by RNAi. By whole genome oligoarrays we observed overexpression of 369 or 390 genes, respectively, in the silenced-LmHP1 and -LmDIM5 transformants during growth in axenic culture, clearly favouring expression of SSP-encoding genes within AT-isochores. The ectopic integration of four effector genes in GC-isochores led to their overexpression during growth in axenic culture. These data strongly suggest that epigenetic control, mediated by HP1 and DIM-5, represses the expression of at least part of the effector genes located in AT-isochores during growth in axenic culture. Our hypothesis is that changes of lifestyle and a switch toward pathogenesis lift chromatin

  14. Comparison of Leptosphaeria biglobosa-induced and chemically induced systemic resistance to L. maculans in Brassica napus

    Institute of Scientific and Technical Information of China (English)

    LIU ShengYi; LIU RenHu; Akinwunmi O. LATUNDE-DADA; Hans J. COOLS; Simon J. FOSTER; HUANG YongJu; Bruce D. L. FITT

    2007-01-01

    Brassica napus (cv. Madrigal) seedlings pre-treated with ascospores of Leptosphaeria biglobosa or foliar sprays of either acibenzolar-S-methyl (ASM) or menadione sodium bisulphite (MSB) were challenge inoculated with L. Maculans ascospores and assessed for phoma leaf spot development and tissue morphology and gene expression responses to infection. Rates of increase in phoma leaf spot area 8-21 d after challenge inoculation were significantly greater on water pre-treated plants than on plants pre-treated with L. Biglobosa, ASM or MSB on both pre-treated leaves (local effect) and younger leaves without pre-treatment (systemic effect). Ninety-six h after challenge inoculation, the invasive hyphae of L. Maculans were encircled by rings of necrotic mesophyll cells on leaves pre-treated with L.biglobosa, ASM or MSB but not those pre-treated with water. Quantification of transcript levels of genes commonly used as markers of the major defence signalling pathways (PDF1.2, PR-1, NPR1, APX,CHB4) 0-96 h after L. Maculans challenge inoculation showed expression patterns indicating preferential activation of the jasmonate/ethylene pathway and involved induction of NPR1 locally and systemically in leaves of plants pre-treated with L. Biglobosa ascospores.

  15. Mutation of a Gene in the Fungus Leptosphaeria maculans Allows Increased Frequency of Penetration of Stomatal Apertures of Arabidopsis thaliana

    Institute of Scientific and Technical Information of China (English)

    Candace E. Elliott; Harjono; Barbara J. Howlett

    2008-01-01

    Leptosphaeria maculans, a pathogen of Brassica napus, is unable to invade most wild-type accessions of Arabidopsis thaliana, although several mutants are susceptible. The infection pathway of L. maculans via a non-invasive inoculation method on A, thaliana Ires1 (undefined), pmr4-1 (defective in callose deposition), and pen1-1 and pen2-1 (defective in non-host responses to several pathogens) mutants is described. On wild types Col-0 and Ler-0, hyphae are generally arrested at stomatal apertures. A T-DNA insertional mutant of L. maculans (A22) that penetrates stomatal apertures of Col-0 and Ler-0 five to seven times more often than the wild-type isolate is described. The higher penetration frequency of isolate A22 is associated with an increased hypersensitive response, which includes callose deposition. Complementation analysis showed that the phenotype of this isolate is due to T-DNA insertion in an intronless gene denoted as ipa (increased penetration on Arabidopsis). This gene is predicted to encode a protein of 702 amino acids with best matches to hypothetical proteins in other filamentous ascomycetes. The ipa gene is expressed in the wild-type isolate at low levels in culture and during infection of A. thaliana and B. napus.

  16. Evolution of linked avirulence effectors in Leptosphaeria maculans is affected by genomic environment and exposure to resistance genes in host plants.

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    Angela P Van de Wouw

    Full Text Available Brassica napus (canola cultivars and isolates of the blackleg fungus, Leptosphaeria maculans interact in a 'gene for gene' manner whereby plant resistance (R genes are complementary to pathogen avirulence (Avr genes. Avirulence genes encode proteins that belong to a class of pathogen molecules known as effectors, which includes small secreted proteins that play a role in disease. In Australia in 2003 canola cultivars with the Rlm1 resistance gene suffered a breakdown of disease resistance, resulting in severe yield losses. This was associated with a large increase in the frequency of virulence alleles of the complementary avirulence gene, AvrLm1, in fungal populations. Surprisingly, the frequency of virulence alleles of AvrLm6 (complementary to Rlm6 also increased dramatically, even though the cultivars did not contain Rlm6. In the L. maculans genome, AvrLm1 and AvrLm6 are linked along with five other genes in a region interspersed with transposable elements that have been degenerated by Repeat-Induced Point (RIP mutations. Analyses of 295 Australian isolates showed deletions, RIP mutations and/or non-RIP derived amino acid substitutions in the predicted proteins encoded by these seven genes. The degree of RIP mutations within single copy sequences in this region was proportional to their proximity to the degenerated transposable elements. The RIP alleles were monophyletic and were present only in isolates collected after resistance conferred by Rlm1 broke down, whereas deletion alleles belonged to several polyphyletic lineages and were present before and after the resistance breakdown. Thus, genomic environment and exposure to resistance genes in B. napus has affected the evolution of these linked avirulence genes in L. maculans.

  17. The cross-pathway control system regulates production of the secondary metabolite toxin, sirodesmin PL, in the ascomycete, Leptosphaeria maculans

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    Fox Ellen M

    2011-07-01

    Full Text Available Abstract Background Sirodesmin PL is a secondary metabolite toxin made by the ascomycetous plant pathogen, Leptosphaeria maculans. The sirodesmin biosynthetic genes are clustered in the genome. The key genes are a non-ribosomal peptide synthetase, sirP, and a pathway-specific transcription factor, sirZ. Little is known about regulation of sirodesmin production. Results Genes involved in regulation of sirodesmin PL in L. maculans have been identified. Two hundred random insertional T-DNA mutants were screened with an antibacterial assay for ones producing low levels of sirodesmin PL. Three such mutants were isolated and each transcribed sirZ at very low levels. One of the affected genes had high sequence similarity to Aspergillus fumigatus cpcA, which regulates the cross-pathway control system in response to amino acid availability. This gene was silenced in L. maculans and the resultant mutant characterised. When amino acid starvation was artificially-induced by addition of 3-aminotriazole for 5 h, transcript levels of sirP and sirZ did not change in the wild type. In contrast, levels of sirP and sirZ transcripts increased in the silenced cpcA mutant. After prolonged amino acid starvation the silenced cpcA mutant produced much higher amounts of sirodesmin PL than the wild type. Conclusions Production of sirodesmin PL in L. maculans is regulated by the cross pathway control gene, cpcA, either directly or indirectly via the pathway-specific transcription factor, sirZ.

  18. Toward the control of Leptosphaeria maculans: design, syntheses, biological activity, and metabolism of potential detoxification inhibitors of the crucifer phytoalexin brassinin.

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    Pedras, M Soledade C; Jha, Mukund

    2006-07-15

    Brassinin (1), a crucial plant defense produced by crucifers, is detoxified by the phytopathogenic fungus Leptosphaeria maculans (Phoma lingam) to indole-3-carboxaldehyde using a putative brassinin oxidase. Potential inhibitors of brassinin detoxification were designed by replacement of its dithiocarbamate group (toxophore) with carbamate, dithiocarbonate, urea, thiourea, sulfamide, sulfonamide, dithiocarbazate, amide, and ester functional groups. In addition, the indolyl moiety was substituted for naphthalenyl and phenyl. The syntheses and chemical characterization of these potential detoxification inhibitors, along with their antifungal and cytotoxic activity, as well as screening using cultures of L. maculans are reported. Overall, three types of interaction were observed in cultures of L. maculans co-incubated with the potential inhibitors and brassinin: (1) a decrease on the rate of brassinin detoxification due to the strong inhibitory activity of the compound on fungal growth, (2) a decrease on the rate of brassinin detoxification due to the inhibitory activity of the compound on the putative brassinin oxidase, and (3) a low to no detectable effect on the rate of brassinin detoxification. A noticeable decrease in the rate of brassinin detoxification was observed in the presence of N'-methylbrassinin, methyl N-methyl-N-(naphthalen-2-ylmethyl) dithiocarbamate, tryptophol dithiocarbonate, and methyl 3-phenyldithiocarbazate. Tryptophol dithiocarbonate appeared to be the best inhibitor among the designed compounds, representing the first inhibitor of brassinin detoxification and potentially the first selective protecting agent of oilseed crucifers against L. maculans infestation.

  19. Quantitative resistance affects the speed of frequency increase but not the diversity of the virulence alleles overcoming a major resistance gene to Leptosphaeria maculans in oilseed rape.

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    Delourme, R; Bousset, L; Ermel, M; Duffé, P; Besnard, A L; Marquer, B; Fudal, I; Linglin, J; Chadœuf, J; Brun, H

    2014-10-01

    Quantitative resistance mediated by multiple genetic factors has been shown to increase the potential for durability of major resistance genes. This was demonstrated in the Leptosphaeria maculans/Brassica napus pathosystem in a 5year recurrent selection field experiment on lines harboring the qualitative resistance gene Rlm6 combined or not with quantitative resistance. The quantitative resistance limited the size of the virulent isolate population. In this study we continued this recurrent selection experiment in the same way to examine whether the pathogen population could adapt and render the major gene ineffective in the longer term. The cultivars Eurol, with a susceptible background, and Darmor, with quantitative resistance, were used. We confirmed that the combination of qualitative and quantitative resistance is an effective approach for controlling the pathogen epidemics over time. This combination did not prevent isolates virulent against the major gene from amplifying in the long term but the quantitative resistance significantly delayed for 5years the loss of effectiveness of the qualitative resistance and disease severity was maintained at a low level on the genotype with both types of resistance after the fungus population had adapted to the major gene. We also showed that diversity of AvrLm6 virulence alleles was comparable in isolates recovered after the recurrent selection on lines carrying either the major gene alone or in combination with quantitative resistance: a single repeat-induced point mutation and deletion events were observed in both situations. Breeding varieties which combine qualitative and quantitative resistance can effectively contribute to disease control by increasing the potential for durability of major resistance genes.

  20. Genomes and transcriptomes of partners in plant-fungal-interactions between canola (Brassica napus and two Leptosphaeria species.

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    Rohan G T Lowe

    Full Text Available Leptosphaeria maculans 'brassicae' is a damaging fungal pathogen of canola (Brassica napus, causing lesions on cotyledons and leaves, and cankers on the lower stem. A related species, L. biglobosa 'canadensis', colonises cotyledons but causes few stem cankers. We describe the complement of genes encoding carbohydrate-active enzymes (CAZys and peptidases of these fungi, as well as of four related plant pathogens. We also report dual-organism RNA-seq transcriptomes of these two Leptosphaeria species and B. napus during disease. During the first seven days of infection L. biglobosa 'canadensis', a necrotroph, expressed more cell wall degrading genes than L. maculans 'brassicae', a hemi-biotroph. L. maculans 'brassicae' expressed many genes in the Carbohydrate Binding Module class of CAZy, particularly CBM50 genes, with potential roles in the evasion of basal innate immunity in the host plant. At this time, three avirulence genes were amongst the top 20 most highly upregulated L. maculans 'brassicae' genes in planta. The two fungi had a similar number of peptidase genes, and trypsin was transcribed at high levels by both fungi early in infection. L. biglobosa 'canadensis' infection activated the jasmonic acid and salicylic acid defence pathways in B. napus, consistent with defence against necrotrophs. L. maculans 'brassicae' triggered a high level of expression of isochorismate synthase 1, a reporter for salicylic acid signalling. L. biglobosa 'canadensis' infection triggered coordinated shutdown of photosynthesis genes, and a concomitant increase in transcription of cell wall remodelling genes of the host plant. Expression of particular classes of CAZy genes and the triggering of host defence and particular metabolic pathways are consistent with the necrotrophic lifestyle of L. biglobosa 'canadensis', and the hemibiotrophic life style of L. maculans 'brassicae'.

  1. Characterization of two coexisting pathogen populations of Leptosphaeria spp., the cause of stem canker of brassicas

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    Joanna Kaczmarek

    2012-12-01

    Full Text Available Stem canker of brassicas, also known as blackleg is the most damaging disease of many Brassicaceae. The disease is caused by Leptosphaeria maculans (Desm. Ces et de Not. and L. biglobosa sp. nov., Shoemaker & Brun, which coexist in plants and resulting in disease symptoms and decreased yield, quantity and quality of cultivated vegetables and oilseed rape. The paper presents taxonomic relationships between these coexisting pathogen species, describes particular stages of their life cycles, summarizes the differences between the species, and reviews methods for their identification.

  2. Effect of climate change on sporulation of the teleomorphs of Leptosphaeria species causing stem canker of brassicas.

    Science.gov (United States)

    Kaczmarek, Joanna; Kedziora, Andrzej; Brachaczek, Andrzej; Latunde-Dada, Akinwunmi O; Dakowska, Sylwia; Karg, Grzegorz; Jedryczka, Małgorzata

    Leptosphaeria maculans and L. biglobosa are closely related sibling fungal pathogens that cause phoma leaf spotting, stem canker (blackleg) and stem necrosis of oilseed rape (Brassica napus). The disease is distributed worldwide, and it is one of the main causes of considerable decrease in seed yield and quality. Information about the time of ascospore release at a particular location provides important data for decision making in plant protection, thereby enabling fungicides to be used only when necessary and at optimal times and doses. Although the pathogens have been studied very extensively, the effect of climate change on the frequencies and distributions of their aerially dispersed primary inoculum has not been reported to date. We have collected a large dataset of spore counts from Poznan, located in central-west part of Poland, and studied the relationships between climate and the daily concentrations of airborne propagules over a period of 17 years (1998-2014). The average air temperature and precipitation for the time of development of pseudothecia and ascospore release (July-November), increased during the years under study at the rates of 0.1 °C and 6.3 mm per year. The day of the year (DOY) for the first detection of spores, as well as the date with maximum of spores, shifted from 270 to 248 DOY, and from 315 to 265 DOY, respectively. The acceleration of the former parameter by 22 days and the latter by 50 days has great influence on the severity of stem canker of oilseed rape.

  3. Effector diversification within compartments of the Leptosphaeria maculans genome affected by repeat induced point mutations

    NARCIS (Netherlands)

    Rouxel, T.; Grandaubert, J.; Hane, J.K.; Hoede, C.; Wouw, A.; Couloux, A.; Dominguez, V.; Anthouard, V.; Bally, P.; Bourras, S.; Cozijnsen, A.J.; Ciuffetti, L.M.; Degrave, A.; Dilmaghani, A.; Duret, L.; Fudal, L.; Goodwin, S.B.; Gout, L.; Glaser, N.; Linglin, J.; Kema, G.H.J.; Lapalu, N.; Lawrence, C.B.; May, K.; Meyer, M.; Ollivier, B.; Poulain, J.; Schoch, C.L.; Simon, A.; Spatafora, J.W.; Stachowiak, A.; Turgeon, B.G.; Tyler, B.M.; Vincent, D.; Weissenbach, J.; Amselem, J.; Quesneville, H.; Oliver, R.P.; Wincker, P.; Balesdent, M.H.; Howlett, B.J.

    2011-01-01

    Fungi are of primary ecological, biotechnological and economic importance. Many fundamental biological processes that are shared by animals and fungi are studied in fungi due to their experimental tractability. Many fungi are pathogens or mutualists and are model systems to analyse effector genes an

  4. Effector diversification within compartments of the Leptosphaeria maculans genome affected by repeat induced point mutations

    NARCIS (Netherlands)

    Rouxel, T.; Grandaubert, J.; Hane, J.K.; Hoede, C.; Wouw, A.; Couloux, A.; Dominguez, V.; Anthouard, V.; Bally, P.; Bourras, S.; Cozijnsen, A.J.; Ciuffetti, L.M.; Degrave, A.; Dilmaghani, A.; Duret, L.; Fudal, L.; Goodwin, S.B.; Gout, L.; Glaser, N.; Linglin, J.; Kema, G.H.J.; Lapalu, N.; Lawrence, C.B.; May, K.; Meyer, M.; Ollivier, B.; Poulain, J.; Schoch, C.L.; Simon, A.; Spatafora, J.W.; Stachowiak, A.; Turgeon, B.G.; Tyler, B.M.; Vincent, D.; Weissenbach, J.; Amselem, J.; Quesneville, H.; Oliver, R.P.; Wincker, P.; Balesdent, M.H.; Howlett, B.J.

    2011-01-01

    Fungi are of primary ecological, biotechnological and economic importance. Many fundamental biological processes that are shared by animals and fungi are studied in fungi due to their experimental tractability. Many fungi are pathogens or mutualists and are model systems to analyse effector genes

  5. Black grain mycetoma caused by Leptosphaeria tompkinsii.

    Science.gov (United States)

    Machmachi, H; Godineau, N; Develoux, M; Bretagne, S; Bazeli, A; Amsellem, D; Desnos-Ollivier, M; Poirat, J B

    2011-02-01

    Leptosphaeria tompkinsii is a dematiaceous fungus which is rarely reported as an agent of black-grain mycetoma. We present a case involving a mycetoma of the hand of a former farmer from Mali, West Africa, who has been a resident in France for 27 years. The patient was successfully treated with surgery and the use of oral itraconazole for 6 months. Species identification was based on sexual reproductive structures observed on potato-carrot agar media and the use of internal transcribed spacer sequencing.

  6. Mise au point de la protection intégrée du colza : exemple du phoma (Leptosphaeria maculans

    Directory of Open Access Journals (Sweden)

    Aubertot Jean-Noël

    2003-05-01

    Full Text Available En France, le phoma est considéré comme la maladie la plus préoccupante du colza. Il n’existe aucune méthode de lutte à la fois efficace, rentable et respectueuse de l’environnement. Il apparaît donc nécessaire de développer la lutte intégrée de la culture contre cette maladie. Cette communication présente les résultats d’un programme de recherche visant à analyser et à modéliser les effets des systèmes de culture sur le développement de la maladie. Des pistes concrètes pour la mise en oeuvre de la lutte intégrée contre le phoma sont proposées.

  7. Eumycetoma of the hand caused by Leptosphaeria tompkinsii and refractory to medical therapy with voriconazole.

    Science.gov (United States)

    Cartwright, Katharine E; Clark, Tristan W; Hussain, Abid M; Wiselka, Martin; Borman, Andrew; Johnson, Elizabeth M

    2011-10-01

    We report on the first case of eumycetoma caused by the organism Leptosphaeria tompkinsii to be diagnosed and possibly acquired within the United Kingdom. Conventional culture of fungal grains and surgical tissue specimens was negative and the diagnosis was achieved using panfungal polymerase chain reaction and sequencing technology. Despite limited surgical resection and prolonged antifungal therapy with voriconazole, the patient developed progressive disease with mycetoma bone involvement. This case highlights the usefulness of molecular diagnostic techniques in eumycetoma where organisms may fail to grow with conventional culture or be difficult to identify morphologically. It also reminds us that eumycetoma is a difficult infection to treat and despite optimism regarding the efficacy of the newer triazole antifungals in this condition, treatment failures may still occur.

  8. Leptosphaeria biglobosa induced resistance to L.maculans in Brassica napus involves different signalling pathways%黑胫病弱毒种Leptosphaeria biglobosa通过不同的信号途径诱导油菜抗性

    Institute of Scientific and Technical Information of China (English)

    刘胜毅; 刘仁虎; Akinwunmi O Latunde-Dada; Hans Cools; Huang Y J; Bruce D L Fitt; John A Lucas

    2005-01-01

    油菜黑胫病是由两种类型病原引起的,分别为A型强致病株(L.maculans)和B型弱致病株,B型现命名为一个新种L.biglobosa。本试验研究了弱致病株诱导的针对强致病株的抗性及其分子信号途径。油菜叶分别用弱致病株子囊孢子预接种和及病害防御反应信号分子水杨酸类似物(acibenzolar—Smethyl,ASM)与维生素K3(menadione sodium bisulphate,MSB)处理,然后挑战接种强致病株子囊孢子。在控制条件下的试验中,预接种和预处理均推迟了由强致病株引起的病害症状的出现,

  9. Pterostilbene Is a Potential Candidate for Control of Blackleg in Canola.

    Directory of Open Access Journals (Sweden)

    Joshua C O Koh

    Full Text Available Two stilbenes, resveratrol and pterostilbene, exhibit antifungal activity against Leptosphaeria maculans, the fungal pathogen responsible for blackleg (stem canker in canola (Brassica napus. In vitro studies on the effect of these stilbenes on L. maculans mycelial growth and conidia germination showed that pterostilbene is a potent fungicide and sporicide, but resveratrol only exerted minor inhibition on L. maculans. Cell viability of hyphae cultures was markedly reduced by pterostilbene and SYTOX green staining showed that cell membrane integrity was compromised. We demonstrate that pterostilbene exerts fungicidal activity across 10 different L. maculans isolates and the compound confers protection to the blackleg-susceptible canola cv. Westar seedlings. The potential of pterostilbene as a control agent against blackleg in canola is discussed.

  10. Genome structure and reproductive behaviour influence the evolutionary potential of a fungal phytopathogen.

    Directory of Open Access Journals (Sweden)

    Guillaume Daverdin

    Full Text Available Modern agriculture favours the selection and spread of novel plant diseases. Furthermore, crop genetic resistance against pathogens is often rendered ineffective within a few years of its commercial deployment. Leptosphaeria maculans, the cause of phoma stem canker of oilseed rape, develops gene-for-gene interactions with its host plant, and has a high evolutionary potential to render ineffective novel sources of resistance in crops. Here, we established a four-year field experiment to monitor the evolution of populations confronted with the newly released Rlm7 resistance and to investigate the nature of the mutations responsible for virulence against Rlm7. A total of 2551 fungal isolates were collected from experimental crops of a Rlm7 cultivar or a cultivar without Rlm7. All isolates were phenotyped for virulence and a subset was genotyped with neutral genetic markers. Virulent isolates were investigated for molecular events at the AvrLm4-7 locus. Whilst virulent isolates were not found in neighbouring crops, their frequency had reached 36% in the experimental field after four years. An extreme diversity of independent molecular events leading to virulence was identified in populations, with large-scale Repeat Induced Point mutations or complete deletion of AvrLm4-7 being the most frequent. Our data suggest that increased mutability of fungal genes involved in the interactions with plants is directly related to their genomic environment and reproductive system. Thus, rapid allelic diversification of avirulence genes can be generated in L. maculans populations in a single field provided that large population sizes and sexual reproduction are favoured by agricultural practices.

  11. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi;

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  12. Comparative genomic analysis of duplicated homoeologous regions involved in the resistance of Brassica napus to stem canker

    Directory of Open Access Journals (Sweden)

    Berline eFopa Fomeju

    2015-09-01

    Full Text Available All crop species are current or ancient polyploids. Following whole genome duplication, structural and functional modifications result in differential gene content or regulation in the duplicated regions, which can play a fundamental role in the diversification of genes underlying complex traits. We have investigated this issue in Brassica napus, a species with a highly duplicated genome, with the aim of studying the structural and functional organization of duplicated regions involved in quantitative resistance to stem canker, a disease caused by the fungal pathogen Leptosphaeria maculans. Genome-wide association analysis on two oilseed rape panels confirmed that duplicated regions of ancestral blocks E, J, R, U and W were involved in resistance to stem canker. The structural analysis of the duplicated genomic regions showed a higher gene density on the A genome than on the C genome and a better collinearity between homoeologous regions than paralogous regions, as overall in the whole B. napus genome. The three ancestral sub-genomes were involved in the resistance to stem canker and the fractionation profile of the duplicated regions corresponded to what was expected from results on the B. napus progenitors. About 60% of the genes identified in these duplicated regions were single-copy genes while less than 5% were retained in all the duplicated copies of a given ancestral block. Genes retained in several copies were mainly involved in response to stress, signaling or transcription regulation. Genes with resistance-associated markers were mainly retained in more than two copies. These results suggested that some genes underlying quantitative resistance to stem canker might be duplicated genes. Genes with a hydrolase activity that were retained in one copy or R-like genes might also account for resistance in some regions. Further analyses need to be conducted to indicate to what extent duplicated genes contribute to the expression of the

  13. Potential of Endophytic Fungi Isolated from Cotton Roots for Biological Control against Verticillium Wilt Disease

    Science.gov (United States)

    Wang, Lingfei; Li, Zhifang; Shi, Yongqiang; Zhao, LiHong; Feng, Zili; Zhu, Heqin

    2017-01-01

    Verticillium wilt is a soil-borne disease, and severely limits the development of cotton production. To investigate the role of endophytic fungi on Verticillium wilt, CEF-818 (Penicillium simplicissimum), CEF-714 (Leptosphaeria sp.), CEF-642 (Talaromyces flavus.) and CEF-193 (Acremonium sp.) isolated from cotton roots were used to assess their effects against cotton wilt disease caused by a defoliating V. dahliae strain Vd080. In the greenhouse, all treatments significantly reduced disease incidence and disease index, with the control efficacy ranging from 26% (CEF-642) to 67% (CEF-818) at 25 days (d) after inoculation. In the disease nursery, compared to controls (with disease incidence of 33.8% and disease index of 31), CEF-818, CEF-193, CEF-714 and CEF-642 provided a protection effect of 69.5%, 69.2%, 54.6% and 45.7%, respectively. Especially, CEF-818 and CEF-714 still provided well protection against Verticillium wilt with 46.9% and 56.6% or 14.3% and 33.7% at the first peak of the disease in heavily infected field, respectively (in early July). These results indicated that these endophytes not only delayed but also reduced wilt symptoms on cotton. In the harvest, the available cotton bolls of plant treated with CEF-818 and CEF-714 increased to 13.1, and 12.2, respectively. And the seed cotton yield significantly increased after seed bacterization with CEF-818 (3442.04 kg/ha) compared to untreated control (3207.51 kg/ha) by 7.3%. Furtherly, CEF-818 and CET-714 treatment increased transcript levels for PAL, PPO, POD, which leads to the increase of cotton defense reactions. Our results indicate that seed treatment of cotton plants with CEF-818 and CET-714 can help in the biocontrol of V. dahliae and improve seed cotton yield in cotton fields. This study provided a better understanding of cotton-endophyte interactions which will aid in developing effective biocontrol agents for Verticillium wilt of cotton in futhre. PMID:28107448

  14. FONZIE: An optimized pipeline for minisatellite marker discovery and primer design from large sequence data sets

    Directory of Open Access Journals (Sweden)

    Balesdent Marie-Hélène

    2010-11-01

    Full Text Available Abstract Background Micro-and minisatellites are among the most powerful genetic markers known to date. They have been used as tools for a large number of applications ranging from gene mapping to phylogenetic studies and isolate typing. However, identifying micro-and minisatellite markers on large sequence data sets is often a laborious process. Results FONZIE was designed to successively 1 perform a search for markers via the external software Tandem Repeat Finder, 2 exclude user-defined specific genomic regions, 3 screen for the size and the percent matches of each relevant marker found by Tandem Repeat Finder, 4 evaluate marker specificity (i.e., occurrence of the marker as a single copy in the genome using BLAST2.0, 5 design minisatellite primer pairs via the external software Primer3, and 6 check the specificity of each final PCR product by BLAST. A final file returns to users all the results required to amplify markers. A biological validation of the approach was performed using the whole genome sequence of the phytopathogenic fungus Leptosphaeria maculans, showing that more than 90% of the minisatellite primer pairs generated by the pipeline amplified a PCR product, 44.8% of which showed agarose-gel resolvable polymorphism between isolates. Segregation analyses confirmed that the polymorphic minisatellites corresponded to single-locus markers. Conclusion FONZIE is a stand-alone and user-friendly application developed to minimize tedious manual operations, reduce errors, and speed up the search for efficient minisatellite and microsatellite markers departing from whole-genome sequence data. This pipeline facilitates the integration of data and provides a set of specific primer sequences for PCR amplification of single-locus markers. FONZIE is freely downloadable at: http://www.versailles-grignon.inra.fr/bioger/equipes/leptosphaeria_maculans/outils_d_analyses/fonzie

  15. Heart Disease

    Science.gov (United States)

    ... type of heart disease you have. Symptoms of heart disease in your blood vessels (atherosclerotic disease) Cardiovascular disease ... can sometimes be found early with regular evaluations. Heart disease symptoms caused by abnormal heartbeats (heart arrhythmias) A ...

  16. Lung disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000066.htm Lung disease To use the sharing features on this page, ... fibrosis and sarcoidosis are examples of lung tissue disease. Lung circulation diseases -- These diseases affect the blood vessels ...

  17. Gaucher disease

    OpenAIRE

    POSPÍŠILOVÁ, Iva

    2012-01-01

    This thesis is about the disease called Gaucher disease, or Morbus Gaucher. There is described the history of the disease, various forms of disease, effect of bones, visceral organs, hematological changes, changes in metabolism etc.; differential diagnosis, diagnosis and therapy.

  18. Hashimoto's Disease

    Science.gov (United States)

    ... is Hashimoto’s disease? Hashimoto’s disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. An ... Points to Remember • Hashimoto’s disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. • Hashimoto’s ...

  19. Kawasaki Disease

    Science.gov (United States)

    Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the ... veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include High fever that lasts longer ...

  20. Alzheimer Disease

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease Print A A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry — or both — ...

  1. Crohn's Disease

    Science.gov (United States)

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  2. Crohn disease

    Science.gov (United States)

    ... from doing your everyday activities. You have side effects from medicines you are taking for your condition. Alternative Names Crohn's disease; Inflammatory bowel disease - Crohn's disease; Regional enteritis; Ileitis; ...

  3. Meniere's Disease

    Science.gov (United States)

    ... Meniere's disease can affect your social life, your productivity and the overall quality of your life. Learn ... www.mayoclinic.org/diseases-conditions/menieres-disease/basics/definition/CON-20028251 . Mayo Clinic Footer Legal Conditions and ...

  4. Kawasaki disease

    Science.gov (United States)

    ... lymph node syndrome; Infantile polyarteritis Images Kawasaki's disease - edema of the hand Kawasaki's disease, peeling of the fingertips References Dominguez SR, Anderson MS. Advances in the treatment of Kawasaki disease. Curr Opin Pediatr . 2013;25( ...

  5. Gaucher's Disease

    Science.gov (United States)

    ... of developing the most common variety of Gaucher's disease. Gaucher's disease may increase the risk of: Growth delays ... illness can be difficult, but having a rare disease like Gaucher's may be even harder. Few people know about ...

  6. Huntington's Disease

    Science.gov (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  7. Sever's Disease

    Science.gov (United States)

    ... take place on hard surfaces, such as track, basketball, soccer, and gymnastics. Sever's disease also can result ... diagnosing Sever's disease, some doctors order them to rule out other problems, such as fractures. Sever's disease ...

  8. Celiac Disease

    Science.gov (United States)

    ... digestive problems called inflammatory bowel disease (IBD) or lactose intolerance . And in some cases, a kid won't ... for Kids With Celiac Disease Inflammatory Bowel Disease Lactose Intolerance Are Your Bowels Moving? Indigestion Nut and Peanut ...

  9. Ribbing disease

    Directory of Open Access Journals (Sweden)

    Mukkada Philson

    2010-01-01

    Full Text Available Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc.

  10. Bladder Diseases

    Science.gov (United States)

    ... frequent, urgent urination Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x- ... National Institute of Diabetes and Digestive and Kidney Diseases

  11. Fifth Disease

    Science.gov (United States)

    ... roseola. Fifth disease is sometimes called “slapped cheek disease.” The illness’s bright red rash on the face looks like ... disease Most children and adults who get fifth disease experience only mild illness. They recover completely and have no complications. But ...

  12. Heart Diseases

    Science.gov (United States)

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. ... of disability. There are many different forms of heart disease. The most common cause of heart disease is ...

  13. Whipple's Disease

    Science.gov (United States)

    ... more common conditions with similar symptoms, including inflammatory rheumatic disease—characterized by inflammation and loss of function in ... Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la salud en ...

  14. The Epipolythiodiketopiperazine Gene Cluster in Claviceps purpurea: Dysfunctional Cytochrome P450 Enzyme Prevents Formation of the Previously Unknown Clapurines.

    Directory of Open Access Journals (Sweden)

    Julian Dopstadt

    Full Text Available Claviceps purpurea is an important food contaminant and well known for the production of the toxic ergot alkaloids. Apart from that, little is known about its secondary metabolism and not all toxic substances going along with the food contamination with Claviceps are known yet. We explored the metabolite profile of a gene cluster in C. purpurea with a high homology to gene clusters, which are responsible for the formation of epipolythiodiketopiperazine (ETP toxins in other fungi. By overexpressing the transcription factor, we were able to activate the cluster in the standard C. purpurea strain 20.1. Although all necessary genes for the formation of the characteristic disulfide bridge were expressed in the overexpression mutants, the fungus did not produce any ETPs. Isolation of pathway intermediates showed that the common biosynthetic pathway stops after the first steps. Our results demonstrate that hydroxylation of the diketopiperazine backbone is the critical step during the ETP biosynthesis. Due to a dysfunctional enzyme, the fungus is not able to produce toxic ETPs. Instead, the pathway end-products are new unusual metabolites with a unique nitrogen-sulfur bond. By heterologous expression of the Leptosphaeria maculans cytochrome P450 encoding gene sirC, we were able to identify the end-products of the ETP cluster in C. purpurea. The thioclapurines are so far unknown ETPs, which might contribute to the toxicity of other C. purpurea strains with a potentially intact ETP cluster.

  15. The Epipolythiodiketopiperazine Gene Cluster in Claviceps purpurea: Dysfunctional Cytochrome P450 Enzyme Prevents Formation of the Previously Unknown Clapurines

    Science.gov (United States)

    Tudzynski, Paul; Humpf, Hans-Ulrich

    2016-01-01

    Claviceps purpurea is an important food contaminant and well known for the production of the toxic ergot alkaloids. Apart from that, little is known about its secondary metabolism and not all toxic substances going along with the food contamination with Claviceps are known yet. We explored the metabolite profile of a gene cluster in C. purpurea with a high homology to gene clusters, which are responsible for the formation of epipolythiodiketopiperazine (ETP) toxins in other fungi. By overexpressing the transcription factor, we were able to activate the cluster in the standard C. purpurea strain 20.1. Although all necessary genes for the formation of the characteristic disulfide bridge were expressed in the overexpression mutants, the fungus did not produce any ETPs. Isolation of pathway intermediates showed that the common biosynthetic pathway stops after the first steps. Our results demonstrate that hydroxylation of the diketopiperazine backbone is the critical step during the ETP biosynthesis. Due to a dysfunctional enzyme, the fungus is not able to produce toxic ETPs. Instead, the pathway end-products are new unusual metabolites with a unique nitrogen-sulfur bond. By heterologous expression of the Leptosphaeria maculans cytochrome P450 encoding gene sirC, we were able to identify the end-products of the ETP cluster in C. purpurea. The thioclapurines are so far unknown ETPs, which might contribute to the toxicity of other C. purpurea strains with a potentially intact ETP cluster. PMID:27390873

  16. Addison disease

    Science.gov (United States)

    ... amounts of some or all of its hormones ( hypopituitarism ) Autoimmune disorder that affects the nerves and the ... disease) Dermatitis herpetiformis Diabetes Graves disease Hyperthyroidism Hypoparathyroidism Hypopituitarism Immune response Myasthenia gravis Ovarian hypofunction Pernicious anemia ...

  17. Fifth disease

    Science.gov (United States)

    Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and ...

  18. Rh Disease

    Science.gov (United States)

    ... Loss > Birth defects & other health conditions > Rh disease Rh disease E-mail to a friend Please fill ... Rh-negative with a blood test. What is Rh factor? Rh factor is a protein that’s found ...

  19. Binswanger's Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  20. Batten Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  1. Behcet's Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  2. Krabbe Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  3. Crohn's Disease

    Science.gov (United States)

    ... prognosis of Crohn's disease in adults. http://www.uptodate.com/home. Accessed June 2, 2014. Smoking and ... cancer surveillance in inflammatory bowel disease. http://www.uptodate.com/home. Accessed June 9, 2014. Inflammatory bowel ...

  4. Addison Disease

    Science.gov (United States)

    ... your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  5. Liver Diseases

    Science.gov (United States)

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

  6. Valve Disease

    Science.gov (United States)

    ... heart valves, valve insufficiency, valve regurgitation, valve stenosis, valvular heart disease Every time your heart beats, blood flows into, ... removed from the market after being linked to heart valve disease. An infection in the lining of the heart's ...

  7. Wilson Disease

    Science.gov (United States)

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You ... extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  8. Gaucher disease

    Science.gov (United States)

    ... doesn't have the disease is called a silent carrier. The lack of the glucocerebrosidase enzyme causes ... liver Fatigue Heart valve problems Lung disease (rare) Seizures Severe swelling at birth Skin changes

  9. Legionnaire disease

    Science.gov (United States)

    ... features on this page, please enable JavaScript. Legionnaire disease is an infection of the lungs and airways. It is caused by Legionella bacteria. Causes The bacteria that cause Legionnaire disease have ...

  10. Parkinson's Disease

    Science.gov (United States)

    ... messages it needs to move normally. continue What Causes Parkinson's Disease? Experts agree that low dopamine levels in ... or other chemicals. No one knows the exact cause of Parkinson's disease, but we do know that it has ...

  11. Fabry Disease

    Science.gov (United States)

    ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ...

  12. Canavan Disease

    Science.gov (United States)

    ... Foundation, Inc. Canavan Research Foundation Genetic Alliance National Tay-Sachs and Allied Diseases Association See all related ... Foundation, Inc. Canavan Research Foundation Genetic Alliance National Tay-Sachs and Allied Diseases Association See all related ...

  13. Digestive Diseases

    Science.gov (United States)

    ... Celiac Disease Bowel Control Problems (Fecal Incontinence) Gas Lactose Intolerance Diarrhea Diverticulosis & Diverticulitis Acid Reflux (GER & GERD) More Digestive Disease Topics Children and Teens Acid Reflux (GER & GERD) in Infants Acid Reflux (GER & GERD) in Children & Teens Chronic ...

  14. Gaucher Disease

    Science.gov (United States)

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have ... affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  15. Liver disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000205.htm Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

  16. Wilson Disease

    Science.gov (United States)

    ... in copper, such as –shellfish –liver –mushrooms –nuts –chocolate • A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected ...

  17. Chagas Disease

    Science.gov (United States)

    Chagas disease is caused by a parasite. It is common in Latin America but not in the United ... There are no vaccines or medicines to prevent Chagas disease. If you travel to areas where it occurs, ...

  18. Legionnaires' Disease

    Science.gov (United States)

    ... Disease Sources Investigation Protocol Outbreak Response What is Legionella? Exposure and Transmission Disease Symptoms Incidence and Risk ... form of pneumonia. More than 43 species of Legionella have been identified and more than 20 linked ...

  19. Heart Disease

    Science.gov (United States)

    ... daily aspirin to prevent heart attack? Does taking birth control pills increase my risk for heart disease? Does using ... tells you to. Return to top Does taking birth control pills increase my risk for heart disease? Taking birth ...

  20. Liver Disease

    Science.gov (United States)

    ... stay still. Liver disease has many causes. Infection Parasites and viruses can infect the liver, causing inflammation ... beyond. National Institute of Diabetes and Digestive and Kidney Diseases. http://digestive.niddk.nih.gov/ddiseases/pubs/ ...

  1. Kidney Diseases

    Science.gov (United States)

    ... until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  2. Eye Diseases

    Science.gov (United States)

    ... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...

  3. Parasitic Diseases

    Science.gov (United States)

    ... water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites ... can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies ...

  4. Kawasaki Disease

    Science.gov (United States)

    ... Life7. Questions8. Resources What is Kawasaki disease? Kawasaki disease is a rare illness. It can occur in infants and children younger ... may have diarrhea, vomiting, and stomach pain. Kawasaki disease might make your child irritable. The illness can last for a few weeks. What causes ...

  5. Lyme Disease.

    Science.gov (United States)

    Taylor, George C.

    1991-01-01

    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

  6. [Gaucher Disease].

    Science.gov (United States)

    Okuyama, Torayuki

    2015-09-01

    Gaucher disease is an autosomal recessive disorder caused by congenital deficiency of lysosomal glucocerebrosidase. Gaucher disease is classified into three types. In addition to enzyme replacement therapy, substrate reduction therapy, chemical chaperon therapy, and hematopoietic stem cell transplantation therapy are considered for the effective treatment of Gaucher disease.

  7. Menetrier's Disease

    Science.gov (United States)

    ... producing cells in the stomach, which decreases stomach acid. Ménétrier’s disease is also called Ménétrier disease or hypoproteinemic hypertrophic ... Alternate Versions PDF Version (102 KB) Additional Links Peptic Ulcer Disease Upper GI Endoscopy This content is provided as ...

  8. Glomerular Diseases

    Science.gov (United States)

    ... Disease Mineral & Bone Disorder Diabetes Inspidus Glomerular Diseases Goodpasture Syndrome Henoch-Schönlein Purpura IgA Nephropathy Kidney Disease in ... effective as cyclophosphamide and has milder side effects. Goodpasture's Syndrome involves an autoantibody that specifically targets the kidneys ...

  9. Morgellons Disease

    OpenAIRE

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

    2017-01-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination sho...

  10. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hero Brokalaki

    2008-07-01

    Full Text Available Celiac disease is a small intestine disease caused by the immunological response to gluten, a component of wheat, rye and barley. The worldwide prevalence of celiac disease ranges between 0.2% and 2.2 %. The clinical features of celiac disease includes diarrhea, steatorrhea, flatulence, abdominal pain and weight loss. The asymptomatic type of celiac disease is characterized by soft or normally shaped stool, weakness, lassitude and moderate weight loss. In children, celiac disease usually arises between the first and the third year of age, with diarrhea, flatulence and low weight. The malabsorption in small intestine causes many extaintestinal manifestations, such us anemia, bone abnormalities, hemorrhage and neuropathy. Celiac disease is diagnosed by histological examination of tissue samples taken by duodenum due gastroscopy and by the detection of certain antibodies in blood (anti-GL-IgG, anti-GL-IgA, ΕΜΑ-IgA και anti-tTg-IgA. The only therapeutic approach to celiac disease is a gluten-free diet and, if it is necessary, the administration of iron, folic acid, calcium and vitamins (K, B12. The prognosis of celiac disease is excellent, if there is an early diagnosis and the patient keeps for life a gluten free diet.

  11. Celiac disease

    Directory of Open Access Journals (Sweden)

    Holtmeier Wolfgang

    2006-03-01

    Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

  12. Leigh's Disease

    Science.gov (United States)

    ... Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

  13. Celiac disease

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2013-01-01

    Full Text Available Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%, widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis.

  14. Is "Parkinson's disease" one disease?

    OpenAIRE

    Calne, D B

    1989-01-01

    Consideration is given to how and why categories of ill health are divided into diseases. Aetiology is a fundamental criterion for the delineation of individual diseases. The same clinical and pathological picture may have many different causes; for example meningococcal meningitis and pneumococcal meningitis are distinct diseases that may display the same symptoms and signs. On the other hand, a single aetiology may lead to quite separate clinical and pathological phenomena; for example, neu...

  15. Endocrine Diseases

    Science.gov (United States)

    ... high or too low, you may have an endocrine disease or disorder. Endocrine diseases and disorders also occur if your body does not respond to hormones the way it is supposed to. Featured Topics Adrenal Insufficiency ... Topics Research Discoveries & News Children with Cushing ...

  16. Batten Disease

    Science.gov (United States)

    ... children with Batten disease who were treated with vitamins C and E and with diets low in vitamin A. However, these treatments did not prevent the ... Complications of AIDS Information Page Neurological Complications of Lyme Disease ... Page Neuromyelitis Optica Information Page Neuronal Migration ...

  17. Myocardial disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970309 Myocardial injury of Keshan disease andapoptosis. ZHONG Xuekuan(钟学宽), et al. KeshanDis Instit, Harbin Med Univ, Harbin, 150086. Chin JEndemiol 1997, 16(2): 81-82. Objective: To discuss the relationship between my-ocardial injury Of Keshan disease and apoptosis. Meth-

  18. Wilson Disease

    Science.gov (United States)

    ... individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic ... individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic ...

  19. Kidney Disease

    Science.gov (United States)

    ... version of this page please turn Javascript on. Kidney Disease What is Kidney Disease? What the Kidneys Do Click for more information You have two ... damaged, wastes can build up in the body. Kidney Function and Aging Kidney function may be reduced ...

  20. Hartnup disease

    Directory of Open Access Journals (Sweden)

    Jerajani Hemangi

    1994-01-01

    Full Text Available A rare case of Hartnup disease is presented - the patient being an 11 year old school girl suffering from a typically pellagroid rash in the absence of any other signs of malnutrition. No accompanying neurological or psychiatric features are seen, but electro-encephalography revealed abnormal baseline activity. Investigations and management are detailed and the literature on Hartnup disease reviewed.

  1. Disease Lab

    OpenAIRE

    Powell, Jim; Lewis, Matt

    2016-01-01

    Students use transparencies and dry erase markers to simulate the spread of a zombie virus among a fixed population. Students are then challenged to create their own "disease" and develop an ODE model for the resulting data. From this exercise students gain greater understanding of population and SIR models, disease dynamics, parameter estimation and compartment modeling.

  2. Alzheimer's Disease

    Science.gov (United States)

    ... to note that Alzheimer's disease is not a normal part of aging. What Is Alzheimer's Disease? Video length: 2 min 29 sec Click to watch this video The course of Alzheimer’s disease—which symptoms appear and how quickly changes occur—varies from person to person. The time ...

  3. Facioscapulohumeral disease

    NARCIS (Netherlands)

    Padberg, George Waltherus Adrianus Maria

    1982-01-01

    The purpose of this study is to discuss several aspects of facioscapulohumeral disease, also called "autosomal dominant facioscapulohumeral muscular dystrophy" or "Landouzy-Dejerine type of muscular dystrophy" or "Landouzy-Dejerine' s disease" . We consider this disorder well defined and

  4. Whipple Disease

    Science.gov (United States)

    ... more common conditions with similar symptoms, including • inflammatory rheumatic disease— characterized by inflammation and loss of function in ... way to prevent Whipple disease. Eating, Diet, and Nutrition A person with Whipple disease and malabsorption may need • a diet high in ...

  5. Krabbe Disease

    Science.gov (United States)

    ... books/NBK1238/. Accessed Feb. 28, 2014. Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed Feb, 28. 2014. Ropper AH, et al. Adams & Victor's Principles of Neurology. 9th ed. New York, N.Y.: ...

  6. Periodontal Disease and Systemic Health

    Science.gov (United States)

    ... Gum Disease and Other Diseases Gum Disease and Diabetes Gum Disease and Heart Disease Gum Disease and Other Systemic ... Gum Disease and Other Diseases Gum Disease and Diabetes Gum Disease and Heart Disease Gum Disease and Other Systemic ...

  7. Vascular Disease Foundation

    Science.gov (United States)

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  8. What Is Vascular Disease?

    Science.gov (United States)

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  9. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Manoochehr Karjoo

    2014-08-01

    Full Text Available Celiac disease also known as gluten-sensitive enteropathy is characterized by intestinal mucosal damage and malabsorption from dietary intake of wheat, rye or barley. Symptoms may appear with introduction of cereal in the first 3 years of life. A second peak in symptoms occurs in adults during the third or forth decade and even as late as eight decade of life. The prevalence of this disease is approximately 1 in 250 adults. The disease is more prevalent in Ireland as high as 1 in 120 adults. The disorder occurs in Arab, Hispanics, Israeli Jews, Iranian and European but is rare in Chinese and African American. To have celiac disease the patient should have the celiac disease genetic markers as HLA DQ 2 and HLA DQ 8. Patient with celiac disease may have 95 per cent for DQ 2 and the rest is by DQ 8. Someone may have the genetic marker and never develops the disease. In general 50 percent with markers may develop celiac disease. To develop the disease the gene needs to become activated. This may happen with a viral or bacterial infection, a surgery, delivery, accident, or psychological stress. After activation of gene cause the tight junction to opens with the release of Zonulin This results in passage of gluten through the tight junction and formation of multiple antibodies and autoimmune disease. This also allows entrance of other proteins and development of multiple food allergies. As a result is shortening, flattening of intestinal villi resulting in food, vitamins and minerals malabsorption.

  10. Pompe's disease.

    Science.gov (United States)

    van der Ploeg, Ans T; Reuser, Arnold J J

    2008-10-11

    Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory problems. The clinical spectrum is continuous and broad. First symptoms can present in infants, children, and adults. Cardiac hypertrophy is a key feature of classic infantile Pompe's disease. For a long time, there was no means to stop disease progression, but the approval of enzyme replacement therapy has substantially changed the prospects for patients. With this new development, the disease is now among the small but increasing number of lysosomal storage disorders, for which treatment has become a reality. This review is meant to raise general awareness, to present and discuss the latest insights in disease pathophysiology, and to draw attention to new developments about diagnosis and care. We also discuss the developments that led to the approval of enzyme replacement therapy with recombinant human alpha-glucosidase from Chinese hamster ovary cells (alglucosidase alfa) by the US Food and Drug Administration and European Medicines Agency in 2006, and review clinical practice.

  11. Refractory disease in autoimmune diseases

    NARCIS (Netherlands)

    Vasconcelos, Carlos; Kallenberg, Cees; Shoenfeld, Yehuda

    2011-01-01

    Refractory disease (RD) definition has different meanings but it is dynamic, according to knowledge and the availability of new drugs. It should be differentiated from severe disease and damage definitions and it must take into account duration of adequate therapy and compliance of the patient. It c

  12. Kummell disease.

    Science.gov (United States)

    Nickell, Larry T; Schucany, William G; Opatowsky, Michael J

    2013-07-01

    Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. This rare disease is increasing in prevalence secondary to an aging population and the associated rise in osteoporosis. Treatment with vertebroplasty or surgical decompression and fusion is often required. We present a classic case of Kummell disease to illustrate the salient features of the condition, with associated imaging findings on computed tomography and magnetic resonance imaging.

  13. Crohn's disease.

    LENUS (Irish Health Repository)

    Shanahan, Fergus

    2012-02-03

    Crohn\\'s disease is a disorder mediated by T lymphocytes which arises in genetically susceptible individuals as a result of a breakdown in the regulatory constraints on mucosal immune responses to enteric bacteria. Regulation of immune reactivity to enteric antigens has improved understanding of the pathophysiological mechanisms of Crohn\\'s disease, and has expanded therapeutic options for patients with this disorder. Disease heterogeneity is probable, with various underlying defects associated with a similar pathophysiological outcome. Although most conventional drug treatments are directed at modification of host response, therapeutic manipulation of the enteric flora is becoming a realistic option.

  14. Fahr's Disease

    Directory of Open Access Journals (Sweden)

    Tezcan Caliskan

    2013-06-01

    Full Text Available Fahr's disease refers to sporadic or familial idiopathic basal ganglia, cerebral and cerebellar calcification. Patients may remain symptom-free but approximately two-thirds of the patients are symptomatic. Typical presentation starts in the 4th to 5th decades of life. Patients present with pyramidal, extrapyramidal, cerebellar, psychiatric and cognitive manifestations. Various diagnostic studies can be used to detect Fahr's disease and associated abnormalities. There is no specific treatment other than symptomatic support. In this review, clinical features and different types of presentations of Fahr's disease are discussed under the light of current literature. [J Contemp Med 2013; 3(2.000: 133-135

  15. [Fabry disease].

    Science.gov (United States)

    Boggio, Paula; Luna, Paula Carolina; Abad, María Eugenia; Larralde, Margarita

    2009-01-01

    Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.

  16. Morgellons Disease.

    Science.gov (United States)

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

    2017-04-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum.

  17. Stargardt Disease

    Science.gov (United States)

    ... Resources Low Vision Specialists Retinal Physicians My Retina Tracker Registry Genetic Testing Clinical Trials Join the Fight ... of lipofuscin, a fatty byproduct of normal cell activity. In Stargardt disease, lipofuscin accumulates abnormally. The Foundation ...

  18. Pick disease

    Science.gov (United States)

    ... in behavior Failure to show emotional warmth, concern, empathy, sympathy Inappropriate mood Not caring about events or ... and steadily becomes worse. The person becomes totally disabled early in the course of the disease. Pick ...

  19. Vaginal Diseases

    Science.gov (United States)

    Vaginal problems are some of the most common reasons women go to the doctor. They may have ... that affect the vagina include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems ...

  20. Legionnaires' Disease

    Science.gov (United States)

    Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for ...

  1. Infectious Diseases

    Science.gov (United States)

    ... people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking ...

  2. Parkinson's Disease

    Science.gov (United States)

    ... sleep behavior disorder, which involves acting out your dreams. Medications may help your sleep problems. Bladder problems. ... will diagnose Parkinson's disease based on your medical history, a review of your signs and symptoms, and ...

  3. Gaucher Disease

    Science.gov (United States)

    ... Translational Research Research at NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

  4. Alexander Disease

    Science.gov (United States)

    ... Translational Research Research at NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

  5. Menkes Disease

    Science.gov (United States)

    ... Translational Research Research at NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

  6. Tickborne Diseases

    Science.gov (United States)

    ... of Award Clinical Terms of Award Restriction for China Clinical Terms Guidance Compliance Sample Letter Inclusion Codes ... Division of AIDS Division of Allergy, Immunology, and Transplantation Division of Microbiology and Infectious Diseases Division of ...

  7. Prion Diseases

    Science.gov (United States)

    ... of Award Clinical Terms of Award Restriction for China Clinical Terms Guidance Compliance Sample Letter Inclusion Codes ... Division of AIDS Division of Allergy, Immunology, and Transplantation Division of Microbiology and Infectious Diseases Division of ...

  8. [Prion diseases].

    Science.gov (United States)

    Zarranz, J J

    2006-10-01

    Prion diseases are one of the paradigms of modern neurological nosology founded on molecular grounds. Their incidence is low, however the public health challenges derived from their transmissibility, especially due to the appearance of a variant of Creutzfeldt-Jakob disease (vCJD) confers them a preferential place among health care authority concerns. The evolution of data from the European surveillance systems suggests a generalized underdiagnosis of prion diseases and casts doubts about their ability to detect a possible second wave of atypical vCJD, especially if their clinical-pathological characteristics change. Recent data also challenge the feasibility of a subclassification of prion diseases according to their genetic-molecular features

  9. Celiac Disease

    Science.gov (United States)

    ... gluten and to certain other proteins in the intestinal lining — a sign that the person could have celiac disease — then the doctor may order a biopsy of the small intestine to confirm the diagnosis. In the case of ...

  10. Autoinflammatory Diseases

    Science.gov (United States)

    ... disease. Colchicine – a medication also approved to treat gout (a form of arthritis) – has been used successfully as a treatment for FMF. Colchicine reduces inflammation throughout the body. ...

  11. Behcet's disease.

    Science.gov (United States)

    Nair, Jagdish R; Moots, Robert J

    2017-02-01

    Behçet's disease (BD) is a chronic relapsing and remitting vasculitis of unknown aetiology. It has the capacity to affect almost all organ systems because of its potential to involve both arteries and veins of all sizes, resulting in significant organ-threatening morbidity and mortality. Traditionally known as the 'silk road' disease, it has a worldwide occurrence. The aetiopathological mechanisms of disease development in BD remain poorly understood, but genome wide studies show human leukocyte antigen and non-human leukocyte antigen associations. Environmental influences and genetic factors may have a role in the aetiopathogenetic mechanisms that lead to development of the disease, indicating the autoimmune and auto-inflammatory nature of BD. The evidence base for treatment is limited but new knowledge is emerging and current treatment options range from symptomatic treatment, through to non-biological and biological immunosuppressive drugs, to cover the spectrum of clinical manifestations.

  12. Parkinson disease

    Science.gov (United States)

    ... control movement. Surgery to destroy brain tissue that causes Parkinson symptoms. Stem cell transplant and other procedures are ... in brain function and early death. Possible Complications Parkinson disease may cause problems such as: Difficulty performing daily activities Difficulty ...

  13. Heart Disease

    Science.gov (United States)

    ... Atherosclerosis is also the most common cause of cardiovascular disease. It can be caused by correctable problems, such as an unhealthy diet, lack of exercise, being overweight and smoking. Causes of heart arrhythmia ...

  14. Lyme Disease

    Science.gov (United States)

    ... can also spread to the nervous system, causing facial paralysis ( Bell_s_palsy ), or meningitis. The last stage of ... symptoms, joint pain or a swollen joint, or facial paralysis. Can I Prevent Lyme Disease? There's no surefire ...

  15. Endocrine Diseases

    Science.gov (United States)

    Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They ... levels. In the United States, the most common endocrine disease is diabetes. There are many others. They ...

  16. Hashimoto's Disease

    Science.gov (United States)

    ... use a combination of x rays and computer technology to create images. For a CT scan, a ... than men. Although the disease often occurs in adolescent or young women, it more commonly appears between ...

  17. Gum Disease

    Science.gov (United States)

    ... away from the teeth. This is known as periodontitis (pronounced: pair-ee-oh-don-TY-tus), a more advanced form of gum disease. With periodontitis, gums become weakened and form pockets around the ...

  18. Planning Diseases.

    Science.gov (United States)

    Gabel, Medard

    1984-01-01

    To solve societal problems, both local and global, a global approach is needed. Serious diseases that are crippling present-day problem solving and planning are discussed, and the characteristics of a healthy, effective planning approach are described. (RM)

  19. [Lyme disease].

    Science.gov (United States)

    Portillo, Aránzazu; Santibáñez, Sonia; Oteo, José A

    2014-02-01

    Lyme disease (LD) is a worldwide-distributed multisystemic process caused by Borrelia burgdorferi sensu lato (s.l.) and transmitted by hard ticks. In fact, it is the most common tick-borne infectious disease in the northern hemisphere. In Spain it is transmitted by Ixodes ricinus ticks and Borrelia garinii is the genoespecies of B. burgdorferi s.l. mostly involved in our area. LD is known as "the last great imitator" due to the broad clinical spectrum that may cause. Except in the case of erythema migrans (pathognomonic feature of the disease), the remaining clinical manifestations should be confirmed using microbiological tests. This review is intended to provide readers a current vision of the etiology, epidemiology, clinical manifestations, laboratory diagnosis and treatment of Lyme disease in our environment. Controversial aspects arising from the use of non-validated microbiological tests that are being used without scientific rigor are highlighted.

  20. Extrapyramidal disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008119 Therapeutic effect of neuropeptide PACAP27 on Parkinson′s disease in mice. WANG Gang(王刚), et al.Dept Neurol & Neurol Instit, Ruijin Hosp, Shanghai Jiaotong Univ, Med Sch, Shanghai 200025. Chin J Neurol 2007;40(12):837-841. Objective To investigate the effects of different doses of pituitary adenylate cyclase-activating polypeptide (PACAP) on the functional and morphological outcome in a mice model of Parkinson′s disease (PD) re

  1. Muscular disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930186 The diagnostic value of MRI on neuro-muscular disease.CHEN Qingtang(陈清棠),etal.Dept Neurol,1st Hosp,Beijing Med Univ,100034.Chin J Neurol & Psychiat 1992;25(5):267-269.The article concentrated on the study ofskeletal muscles of four extremities in 12 casesof different kinds of neuromuscular diseases and4 volunteers with MRI.The results revealed:MRI could clearly display individual muscle,muscle groups or abnormal muscles morphologi-

  2. [Ledderhose's disease].

    Science.gov (United States)

    Bardelli, M; D'Arienzo, M; Veneziani, C

    1991-01-01

    The authors describe the clinical appearance of Ledderhose disease and emphasize the association with Dupuytren disease. They report on a series of patients treated at the 2nd Orthopedic Unit of University of Florence and describe the operating technique used. They believe that the procedure of removal of nodules must always be performed in association with careful exeresis of normal tissue, employing total aponeurectomy only in revision surgery.

  3. Bowel disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008069 The application of Montreal classification in inflammatory bowel disease. YANG Chuanhua(杨川华), et al. Renji Hosp, Shanghai Instit, Shanghai Jiaotong Univ Med Coll, Shanghai 200001. Chin J Intern Med 2008;47(1):7-10. Objective To investigate the clinical features of Crohn′s disease (CD) and ulcerative colitis (UC) according to the Montreal classification. Methods The clinical data of 110 cases of CD or UC were reviewed. The age at

  4. Extrapyramidal disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008486 Neuropsychiatric problems in patients with Parkinson’s disease. ZHOU Mingzhu(周明珠), et al. Dept Neurol, Xinhua Hosp Shanghai Jiaotong Univ, Sch Med, Shanghai 200092.Natl Med J China 2008;88(21):1442-1445. Objective To survey the prevalence and distribution of neuropsychiatric problems in patients with Parkinson’s disease (PD), and to investigate their effects on life quality and the interactions among different neuropsychiatric problems.

  5. Huntington's disease

    OpenAIRE

    Bates, G P; Dorsey, R.; Gusella, J F; Hayden, M. R.; Kay, C; Leavitt, B. R.; Nance, M; Ross, C A; Scahill, R. I.; Wetzel, R.; Wild, E. J.; Tabrizi, S.J.

    2015-01-01

    Huntington’s disease is devastating to patients and their families — with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course and combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene which encodes the protein huntingtin. In mutation carriers, huntingtin is produced with abnormally long polyglutamine sequences that confers toxic gains of function a...

  6. [Kawasaki's disease].

    Science.gov (United States)

    Cortes, J; Martínez, B; Montini, C; Barraza, P; Reyes, A

    1989-08-01

    We described a case of Kawasaki's disease in a chilean girl, one year and 5 months old of age, who presented the oral characteristics, cutaneous and systemic manifestation of the condition, that is not very common for the dentist but that it is necessary to know due to the heart complications and the mortality associated with the disease, and it is necessary that the dentist recognize early this condition.

  7. HIRAYAMA DISEASE

    Directory of Open Access Journals (Sweden)

    Shaik Sulaiman

    2016-05-01

    Full Text Available Hirayama’s disease, also known as Monomelic Amyotrophy (MMA, juvenile non-progressive amyotrophy, Sobue disease. It is rare and benign condition. It is a focal, lower motor neuron type of disorder, which occurs mainly in young males. Age of onset, it is first seen most commonly in people in their second and third decades. Geographically, it is seen most commonly in Asian countries like India and Japan. Cause of this disease is unknown in most cases. MRI of cervical spine in flexion is the investigation of choice, which will reveal the cardinal features of Hirayama disease. CASE REPORT 20 years old male came with the complaints of tremors of both hands more of right hand and weakness and wasting of right hand, which is slowly progressive for past 6 months. Lower limbs had no abnormality with normal deep tendon reflexes. On examination, there was wasting and weakness of hypothenar and interosseous muscles of right hand. MRI showed thinning of cord from C5 to C7 level. Proximal epidural fat and tiny flow voids with anterior migration of the posterior dural layer at C5-7 level on flexion MRI. Based on these features a diagnosis of focal amyotrophy was made. A cervical collar was prescribed and patient is under regular follow-up. CONCLUSION Hirayama disease is a rare self-limiting disease. Early diagnosis is necessary as the use of a simple cervical collar which will prevent neck flexion, has been shown to stop the progression.

  8. Learning about Crohn's Disease

    Science.gov (United States)

    ... genetic terms used on this page. Learning About Crohn's Disease What is Crohn's disease? What are the symptoms ... disease Additional Resources for Crohn's Disease What is Crohn's disease? Crohn's disease, an idiopathic (of unknown cause), chronic ...

  9. HIV and Rheumatic Disease

    Science.gov (United States)

    ... A Patient / Caregiver Diseases & Conditions HIV & Rheumatic Diseases HIV and Rheumatic Disease Fast Facts Rheumatic diseases related ... knows he or she has HIV. What are HIV-associated rheumatic diseases? Some diseases of the joints ...

  10. HIV and Rheumatic Disease

    Science.gov (United States)

    ... A Patient / Caregiver Diseases & Conditions HIV & Rheumatic Diseases HIV and Rheumatic Disease Fast Facts Rheumatic diseases related ... knows he or she has HIV. What are HIV-associated rheumatic diseases? Some diseases of the joints ...

  11. Niemann-Pick Disease

    Science.gov (United States)

    ... Disease] National Niemann-Pick Disease Foundation, Inc. National Tay-Sachs and Allied Diseases Association See all related ... Disease] National Niemann-Pick Disease Foundation, Inc. National Tay-Sachs and Allied Diseases Association See all related ...

  12. [Dupuytren disease].

    Science.gov (United States)

    Wagner, Pablo; Román, Javier A; Vergara, Jorge

    2012-09-01

    Dupuytren disease (DD) is a connective tissue disorder that consists in fibromatosis of the palmar and digital fascia (in form of nodules or flanges) that leads to the development of flexion contractures of the palm and fingers. The little and ring finger are particularly affected. The disease can limit hand function, reducing the quality of life. The disease can have a traumatic origin and is also associated with conditions such as diabetes mellitus, alcoholism, dyslipidemia, epilepsy and AIDS, among others. However, none of these conditions can fully explain the genesis of DD. A hereditary component is described in 40% of patients and is attributed to an autosomal dominant gene of variable penetrance, probably related to collagen synthesis. However there are also spontaneous and recessive inheritance cases. The diagnosis is clinical and based on physical examination. Treatment ranges from observation or use of injectable collagenase to the surgical option in cases with significant functional limitations.

  13. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina;

    2015-01-01

    , which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers......This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins...... the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include...

  14. Myocardial disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930497 Ectopic expression and the significanceof HLA—class II antigens in the myocardium ofpatients with dilated cardiomyopathy.LI Yunyou(李运友),et al.lst Affili Hosp,Nanjing MedCoil,Nanjing,210029.Chin J Cardiol 1993;21(1):15—16.Expression of HLA—class II antigens(DQ,DP)in the myocardium of patients with differentheart diseases and normal controls was studiedwith indirect immunofluorescence(IIF).Thepositive rates in different groups were observedas follows:dilated cardiomyopathy(DCM,12/13,+++),rheumatic heart disease(2/4,++),congenital heart diseases(1/14,+),left a-trial myxoma(0/1)and normal controls(1/8,

  15. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina

    2015-01-01

    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins......, which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers...... the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include...

  16. Dent's disease

    Directory of Open Access Journals (Sweden)

    Thakker Rajesh V

    2010-10-01

    Full Text Available Abstract Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1 or OCRL1 (Dent disease 2 genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl-/H+ exchanger ClC-5, which belongs to the CLC family of Cl- channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome, hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and

  17. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina;

    2015-01-01

    the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include......This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins...

  18. Hansen's disease: a vanishing disease?

    Directory of Open Access Journals (Sweden)

    Sinésio Talhari

    2012-12-01

    Full Text Available The introduction, implementation, successes and failures of multidrug therapy (MDT in all Hansen's disease endemic countries are discussed in this paper. The high efficacy of leprosy treatment with MDT and the global reduction of prevalence led the World Health Organization, in 1991, to establish the goal of elimination of Hansen's disease (less than 1 patient per 10,000 inhabitants to be accomplished by the year 2000. Brazil, Nepal and East Timor are among the few countries that didn't reach the elimination goal by the year 2000 or even 2005. The implications of these aspects are highlighted in this paper. Current data from endemic and previously endemic countries that carry a regular leprosy control programme show that the important fall in prevalence was not followed by the reduction of the incidence. This means that transmission of Mycobacterium leprae is still an issue. It is reasonable to conclude that we are still far from the most important goal of Hansen's disease control: the interruption of transmission and reduction of incidence. It is necessary to emphasize to health managers the need of keeping Hansen's disease control activities to better develop control programmes in the future. The recent international proposal to interrupt the transmission of leprosy by the year 2020 seems to unrealistic and it is discussed in this paper. The possibility of epidemiological impact related to the human immunodeficiency virus/Hansen's disease coinfection is also considered.

  19. Hansen's disease: a vanishing disease?

    Science.gov (United States)

    Talhari, Sinésio; Grossi, Maria Aparecida de Faria; Oliveira, Maria Leide W D R de; Gontijo, Bernardo; Talhari, Carolina; Penna, Gerson Oliveira

    2012-12-01

    The introduction, implementation, successes and failures of multidrug therapy (MDT) in all Hansen's disease endemic countries are discussed in this paper. The high efficacy of leprosy treatment with MDT and the global reduction of prevalence led the World Health Organization, in 1991, to establish the goal of elimination of Hansen's disease (less than 1 patient per 10,000 inhabitants) to be accomplished by the year 2000. Brazil, Nepal and East Timor are among the few countries that didn't reach the elimination goal by the year 2000 or even 2005. The implications of these aspects are highlighted in this paper. Current data from endemic and previously endemic countries that carry a regular leprosy control programme show that the important fall in prevalence was not followed by the reduction of the incidence. This means that transmission of Mycobacterium leprae is still an issue. It is reasonable to conclude that we are still far from the most important goal of Hansen's disease control: the interruption of transmission and reduction of incidence. It is necessary to emphasize to health managers the need of keeping Hansen's disease control activities to better develop control programmes in the future. The recent international proposal to interrupt the transmission of leprosy by the year 2020 seems to unrealistic and it is discussed in this paper. The possibility of epidemiological impact related to the human immunodeficiency virus/Hansen's disease coinfection is also considered.

  20. Myocardial disease

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    920666 Immunocytochemical study ofCuZn superoxide dismutase in the myocardi-um of normal subjects and patients ofrheumatic heart disease.ZHENG Yi(郑毅),et al. Dept Intern Med, Navy General Hosp,PLA, Beijing. 100037. Natl Med J China 1992;72(4): 225-227. By using the methods of immunocytochemistry

  1. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z

    2015-01-01

    -derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  2. Wilson Disease

    Science.gov (United States)

    ... prevent organ damage. Changes in Eating, Diet, and Nutrition People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as shellfish liver mushrooms nuts chocolate People should not eat these foods during the ...

  3. Mitochondrial Diseases

    Science.gov (United States)

    ... fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen ... disease can vary. It depends on how many mitochondria are defective, and where ... organ, tissue, or cell type is affected. But often the problem affects ...

  4. Behcet's Disease

    Science.gov (United States)

    ... to stop taking the medicine suddenly, because the medicine alters the body’s production of the natural corticosteroid hormones. Long-term use of these medications can have side effects such as osteoporosis (a disease that leads to bone fragility), weight gain, delayed ...

  5. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

    2011-01-01

    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  6. Parkinson disease

    Science.gov (United States)

    In Parkinson disease, dopamine production becomes irregular and inadequate and nerve cells cannot properly transmit messages. This results in the loss of muscle function. By providing an even, adequate supply of medication that the body converts into dopamine, neurons are able to transmit ...

  7. Meningococcal disease

    Directory of Open Access Journals (Sweden)

    Alex Koyfman

    2011-12-01

    Full Text Available The first cases of meningococcal meningitis were described in Geneva in 1805 and in New England in 1806, the causative agent finally being identified by Anton Weichselbaum in 1887. The first meningococcal epidemics occurred in sub-Saharan Africa in the early 1900s and periodic outbreaks continue to occur worldwide today. Neisseria meningitidis colonizes the naso-oropharyngeal mucosa in approximately 10–20% of healthy individuals. When it invades the bloodstream, meningococcus has the potential to cause devastating disease. It can affect people of any age, but primarily infects children and adolescents. Meningococcemia classically follows an upper respiratory illness consisting of myalgias, fever, headache, and nausea. It can present as an indolent infection with rapid recovery or progress within a few hours into a fulminant illness affecting multiple organ systems. As such, meningococcemia is one of the important causes of sepsis. Prior to antibiotic therapy, the disease carried a 70% mortality rate. Despite advances in early diagnosis and treatment, 10–15% of affected patients die from the disease and another 10–20% are left with severe morbidities (neurologic disability, hearing loss, loss of a limb. Meningococcal disease remains a significant global health threat.

  8. Lung Diseases

    Science.gov (United States)

    When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to ... you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in ...

  9. INFECTIOUS DISEASE

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    2.1 Viral disease2003263 Isolation, identification and sequence analyses of dengue virus type 2 strain GD19/2001. REN Rui-wen(任瑞文), et al. Milit Med Instit Guangzhou Milit District, Guangzhou 510507. Chin J Epidemiol 2003; 24 (4):288-290. Objective:To identify the virus isolated from patients

  10. INFECTIOUS DISEASE

    Institute of Scientific and Technical Information of China (English)

    2004-01-01

    3.1 Viral disease2004310 One-step simultaneous detection of G-genotype of human group a rotaviruses by multiplex RT-PCR. TANG Shaowen (唐少文) , et al. Dept Epidemiol, Tongji Med Coll Huozhong Univ Sci & Technol, Wuhan 430030. Chin J Lab Med 2004; 27 (4):234-236

  11. INFECTIOUS DISEASE

    Institute of Scientific and Technical Information of China (English)

    2004-01-01

    4. 1 Viral disease2004174 Study on the seropositive prevalence of humanimmunodeficiency virus in a village residents living in rural region of central China. CHENG Hua (程华), et al. Public Health Sch, Fudan Univ, Shanghai 200032. Chin J Epidemiol 2004;25(4):317 -321.

  12. Huntington's Disease

    Science.gov (United States)

    ... seizures. More than 30,000 Americans have HD. Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more ...

  13. Huntington disease

    Science.gov (United States)

    ... President of the Florida Society of Neurology (FSN). Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Huntington's Disease Read more Latest Health News Read more Health ...

  14. Prionic diseases

    Directory of Open Access Journals (Sweden)

    Abelardo Q-C Araujo

    2013-09-01

    Full Text Available Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD and its variants, Gerstmann-Sträussler-Scheinker (GSS syndrome and fatal familial insomnia (FFI] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI. Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

  15. INFECTIOUS DISEASE

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    3.1 Viral disease2003162 The clinical and epidemiological analysis on 46 patients with epidemic hemorrhagic fever in Huainan areas. WANG Kexia(王克霞). Sch Med, An-hui Univ Sci & Tehnol, Huainan 232001. Chin J En-demiol 2003;22(1):48-50.

  16. Extraphyramidal disease

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    2009250 Effects of bilateral deep brain stimulation of the subthalamic nucleus on depression in patients with parkinson’s disease. WANG Xuelian(王学廉),et al.Dept Neurosurg,Tangdu Hosp,4th Milit Med Univ,Xi’an,710038.Chin J Nerv Ment Dis,2009;35(2):88-92.

  17. Chagas Disease

    Science.gov (United States)

    ... contact with an infected triatomine bug also called “kissing bug,”“benchuca,” “vinchuca,”“chinche,”or “barbeiro” Who can ... get Chagas disease? ■ Usually from contact with a kissing bug ■ After the kissing bug bites, it poops. ...

  18. Neurodegenerative disorders: Parkinson's disease and Huntington's disease

    Science.gov (United States)

    Hague, S; Klaffke, S; Bandmann, O

    2005-01-01

    Parkinson's disease and Huntington's disease are both model diseases. Parkinson's disease is the most common of several akinetic-rigid syndromes and Huntington's disease is only one of an ever growing number of trinucleotide repeat disorders. Molecular genetic studies and subsequent molecular biological studies have provided fascinating new insights into the pathogenesis of both disorders and there is now real hope for disease modifying treatment in the not too distant future for patients with Parkinson's disease or Huntington's disease. PMID:16024878

  19. Neurodegenerative disorders: Parkinson's disease and Huntington's disease.

    Science.gov (United States)

    Hague, S M; Klaffke, S; Bandmann, O

    2005-08-01

    Parkinson's disease and Huntington's disease are both model diseases. Parkinson's disease is the most common of several akinetic-rigid syndromes and Huntington's disease is only one of an ever growing number of trinucleotide repeat disorders. Molecular genetic studies and subsequent molecular biological studies have provided fascinating new insights into the pathogenesis of both disorders and there is now real hope for disease modifying treatment in the not too distant future for patients with Parkinson's disease or Huntington's disease.

  20. Infectious Disease

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    3.1 Viral disease2007149 Study on platelet β3 integrin expression levels and their relationships with disease severity in patients with hemorrhagic fever with renal syndrome.GAO Maicang(高麦仓), et al. Dept Infect Dis, 1st Affili Hosp, Sch Med, Xi′an Jiaotong Univ , Xi′an 710061. Chin J Infect Dis 2007;25(3):152-153. Objective To investigate the relationship between the expression level of platelet membrane glycoprotein 133(GP Ⅲa, CD61) and the severity of disease in patients with hemorrhagic fever with renal syndrome(HFRS). Methods One hundred and four patients with HFRS and 30 healthy individuals were recruited. The percentage of CD61 positive platelets and the mean fluorescence intensities (MFI) of platelet membrane glycoprotein β3 were determined by flow cytometry (FCM). The 104 patients studied were divided into three groups based on their expression levels of platelet membrane glycoprotein β3 at oliguric phase. Clinical data and laboratory parameters in different groups were compared and analyzed. Results The expression levels of CD61 in patients with HFRS were significantly higher than those in control group, although no significant difference in the percentage of CD61 positive platelets between patients with HFRS and controls was detected. The MFI of CD61 expression in patients with HFRS at fever phase, oliguric phase and polyuric phase was 19. 75±2.57, 17.46±1.48 and 15. 55±0.60, respectively, which was significantly higher than that in control group (3. 20±0.12). The expression level of CD61 in patients with HFRS at oliguric phase was negatively correlated with platelet count and serum albumin(r=-0.637 and -0. 695. respectively) and positively correlated with white blood cell count, blood urea nitrogen, serum creatinine and alanine aminotransferase(r= 0.945, 0. 904, 0.956 and 0. 891, respectively). When the patients were compared according to the expression levels of CD61, it was indicated that the higher the expression level of CD61, the

  1. Celiac disease

    Institute of Scientific and Technical Information of China (English)

    Luis Rodrigo

    2006-01-01

    Celiac disease (CD) is a common autoimmune disorder,induced by the intake of gluten proteins present in wheat, barley and rye. Contrary to common belief,this disorder is a protean systemic disease, rather than merely a pure digestive alteration. CD is closely associated with genes that code HLA-Ⅱ antigens, mainly of DQ2 and DQ8 classes. Previously, it was considered to be a rare childhood disorder, but is actually considered a frequent condition, present at any age, which may have multiple complications. Tissue transglutaminase-2(tTG), appears to be an important component of this disease, both, in its pathogenesis and diagnosis. Active CD is characterized by intestinal and/or extra-intestinal symptoms, villous atrophy and crypt hyperplasia, and strongly positive tTG auto-antibodies. The duodenal biopsy is considered to be the "gold standard" for diagnosis, but its practice has significant limitations in its interpretation, especially in adults. Occasionally, it results in a false-negative because of patchy mucosal changes and the presence of mucosal villous atrophy is often more severe in the proximal jejunum, usually not reached by endoscopic biopsies. CD is associated with increased rates of several diseases, such as iron deficiency anemia, osteoporosis, dermatitis herpetiformis,several neurologic and endocrine diseases, persistent chronic hypertransami-nasemia of unknown origin,various types of cancer and other autoimmune disorders.Treatment of CD dictates a strict, life-long gluten-free diet, which results in remission for most individuals,although its effect on some associated extraintestinal manifestations remains to be established.

  2. Bacterial disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930445 A report on investigation of an outbreakof legionnaires’disease in a hotel in Beijing.DENG Changying(邓长英),et al.Beijing ArmedForce General Hosp,Beijing,100027.Chin J Epi-demiol 1993;14(2):78—79.During the period from February to March,1992,an outbreak of upper respiratory infection(influenza—like syndrome)took place in a hotelin Beijing.An epidemiological investigation andbacteriological examination were carried out inthis hotel.The results showed that it was anoutbreak of Legionnaires’disease caused by Le-gionella pneumophila serogroup 10(Lpl0).Theincidence was 13.51%(5/37).This is the firstreport on Lp10 infection in China.

  3. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z

    2015-01-01

    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...... relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). RESULTS: We found two studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. CONCLUSIONS...

  4. Menkes disease.

    Science.gov (United States)

    Tümer, Zeynep; Møller, Lisbeth B

    2010-05-01

    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.

  5. Morgellons disease?

    Science.gov (United States)

    Accordino, Robert E; Engler, Danielle; Ginsburg, Iona H; Koo, John

    2008-01-01

    Morgellons disease, a pattern of dermatologic symptoms very similar, if not identical, to those of delusions of parasitosis, was first described many centuries ago, but has recently been given much attention on the internet and in the mass media. The present authors present a history of Morgellons disease, in addition to which they discuss the potential benefit of using this diagnostic term as a means of building trust and rapport with patients to maximize treatment benefit. The present authors also suggest "meeting the patient halfway" and creating a therapeutic alliance when providing dermatologic treatment by taking their cutaneous symptoms seriously enough to provide both topical ointments as well as antipsychotic medications, which can be therapeutic in these patients.

  6. Lyme Disease.

    Science.gov (United States)

    Hu, Linden T

    2016-05-03

    This issue provides a clinical overview of Lyme disease, focusing on prevention, diagnosis, treatment, and practice improvement. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of additional science writers and physician writers.

  7. Ledderhose Disease

    Science.gov (United States)

    Fausto de Souza, Dominique; Micaelo, Lilian; Cuzzi, Tullia

    2010-01-01

    Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. A 28-year-old Brazilian woman with a six-year history of painless bilateral plantar nodules is described in this article. PMID:20877526

  8. INFECTIOUS DISEASE

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    4.1 Viral disease2003021 Analysis on the epidemiologic features of Dengue fever in Guangdong province, 1990 - 2000. LUO Huiming(罗会明), et al. Dis Contr & Prev Center Guangdong Prov, Guangzhou 510300. Chin J Epi-demiol 2002;23(6):427-430.Objective: To determine the epidemiological characteristics and risk factors of Dengue fever in Guangdong province in 1990 - 2000, and to develop the strategy for

  9. Fungal disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930031 Experimental studies on lung lesionsof rabbits caused by streptomyces thermohy-groscopicus.LIU Fang(刘仿),et al.Dept Mi-crobiol,Hubei Med Coll,Xianning Branch,437100.Chin J Tuberc & Respir Dis 1992;15(4):207—208.Imitating the natural way of infection ofFarmer’s lung disease,we succeeded in inducingChina Medical Abstracts(Internal Medicine)

  10. Wilson's disease.

    Science.gov (United States)

    Loudianos, G; Gitlin, J D

    2000-01-01

    Wilson's disease is an autosomal recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase encoded on chromosome 13. This ATPase is expressed in hepatocytes where it is localized to the trans-Golgi network and transports copper into the secretory pathway for incorporation into ceruloplasmin and excretion into the bile. Under physiologic circumstances, biliary excretion represents the sole mechanism for copper excretion, and thus affected individuals have progressive copper accumulation in the liver. When the capacity for hepatic storage is exceeded, cell death ensues with copper release into the plasma, hemolysis, and tissue deposition. Presentation in childhood may include chronic hepatitis, asymptomatic cirrhosis, or acute liver failure. In young adults, neuropsychiatric symptoms predominate and include dystonia, tremor, personality changes, and cognitive impairments secondary to copper accumulation in the central nervous system. The laboratory diagnosis of Wilson's disease is confirmed by decreased serum ceruloplasmin, increased urinary copper content, and elevated hepatic copper concentration. Molecular genetic analysis is complex as more than 100 unique mutations have been identified and most individuals are compound heterozygotes. Copper chelation with penicillamine is an effective therapy in most patients and hepatic transplantation is curative in individuals presenting with irreversible liver failure. Elucidation of the molecular genetic basis of Wilson's disease has permitted new insights into the mechanisms of cellular copper homeostasis.

  11. Polycystic Kidney Disease

    Science.gov (United States)

    ... Kidney Disease Polycystic Kidney Disease (PKD) Related Topics Section Navigation Kidney Disease Acquired Cystic Kidney Disease Amyloidosis & ... for a Child with Kidney Disease Ectopic Kidney Medullary Sponge Kidney Kidney Dysplasia Kidney Failure Choosing a ...

  12. Coronary heart disease

    Science.gov (United States)

    Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... slow down or stop. A risk factor for heart disease is something that increases your chance of getting ...

  13. Parkinson's Disease Dementia

    Science.gov (United States)

    ... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment in ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's disease ...

  14. [Goodpasture disease].

    Science.gov (United States)

    Fomegné, G; Dratwa, M; Wens, R; Mesquita, M; Van der Straaten, M; Vanden Haute, K; Fosso, C

    2006-01-01

    We report one case of acute renal failure with oliguria, microscopic haematuria and normocytic anemia in a 86-year old Swedish woman. A full investigation led to the diagnosis of Goodpasture disease, an isolated form of Goodpasture syndrome. Goodpasture disease is and autoimmune disorder characterized by the development of autoantibodies to the NC1 domain of the alpha3 chain of type IV collagen, found mainly in glomerular basement membranes (GBM). When the disease affects both the lung and the kidney, it is called Goodpasture syndrome but the pulmonary or renal involvement can be isolated or separated in years. Its pathogenesis is not well known. It occurs essentially in Caucasian subjects, preferentially from Nordic and Anglo-Saxon countries (higher prevalence of HLA DR B1-15 and B1-4 group). Are also mentioned, the exposure to hydrocarbons, rustproof, insecticides and greasy solvents. The annual incidence of Goodpasture syndrome is rare and has been estimated in Europe to be about 0.5 to 1 case per million inhabitants. The isolated renal form represents about 1/3 of the cases. The clinical presentation is characterized by rapidly progressive renal failure with oliguria or anuria and in case of lung involvement, pulmonary hemorrhage responsible of hemoptysis, sometimes massive. Renal biopsy and immunofluorescence analysis play a key role in the diagnosis. The presence of both linear deposits of IgG along the glomerular basement membrane (GBM) and circulating anti-GBM antibodies is of paramount importance. The treatment, which depends on the degree of renal involvement, is based on the association of corticosteroids, cyclophosphamide and plasma exchanges.

  15. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina

    2015-01-01

    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins......, and identification of specific HLA haplotypes may contribute to CD diagnosis. Classical CD presents with diarrhoea and weight loss, but non-classical CD with vague or extraintestinal symptoms is common. The treatment for CD is a lifelong gluten-free diet (GFD), which, in the majority of patients, normalises...

  16. Menkes disease

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Møller, Lisbeth B

    2010-01-01

    of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export......Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority...

  17. Menkes disease

    OpenAIRE

    Tümer, Zeynep; Møller, Lisbeth B

    2009-01-01

    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane...

  18. Celiac disease.

    Science.gov (United States)

    Polanco, Isabel

    2008-08-01

    Celiac disease is an immunologically mediated enteropathy of the small intestine, characterized by lifelong intolerance to the gliadin and related prolamines from wheat and other cereals, that occurs in genetically predisposed individuals. Symptoms result from structural damage to the mucosa of the small intestine, which may cause malabsorption with positive autoantibodies in the sera. Normal mucosal architecture is restored after the use of a gluten-free diet and the normalization of the autoantibodies. Villous atrophy and high levels of autoantibodies reappear when gluten is reintroduced into the diet (gluten challenge).

  19. Infectious Disease

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    2.1 Viral disease 2006009 Correlation analysis of type A influenza virus genetic variation characteristic with survival selective pressure ZHOU xiao -ming(周晓明 ) ,et al. Sch Pub Health,Fudan Univ. Shanghai 200032. China J Infect Dis 2005;23(4) :221 -224 Objective:To study the relationship betweer. type A influenza virus genetic variation with survival selective pressure to find possible vaccine conserved antigen target. Methods:Seven strains of same HA (Hemagglutinin) serotype, regional and isolation time closely related type A influenza virus were selected with full HA gene coding sequence , Blast2 program was used to calculate the param-

  20. Women's Heart Disease: Heart Disease Risk Factors

    Science.gov (United States)

    ... this page please turn JavaScript on. Feature: Women's Heart Disease Heart Disease Risk Factors Past Issues / Winter 2014 Table of ... or habits may raise your risk for coronary heart disease (CHD). These conditions are known as risk factors. ...

  1. Crohn disease - children - discharge

    Science.gov (United States)

    Inflammatory bowel disease in children - Crohn disease; IBD in children - Crohn disease; Regional enteritis - children; Ileitis - children; Granulomatous ileocolitis - children; Colitis in children; CD - children

  2. Infectious diseases and arthropods

    National Research Council Canada - National Science Library

    Goddard, Jerome

    2000-01-01

    .... His book covers mosquito-, tick-, and flea-borne diseases, and a variety of other miscellaneous vector-borne diseases, including Chagas' disease, African sleeping sickness, onchocerciasis, scrub...

  3. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... of Parkinson's Disease OHSU - Parkinson's Disease: Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic ...

  4. Hirayama disease

    Directory of Open Access Journals (Sweden)

    Atul T Tayade

    2010-01-01

    Full Text Available A 17-year-old male, who gave up his favorite sport cricket and started playing football, presented with one-year history of slowly progressive atrophic weakness of forearms and hands. Neurological examination showed weak and wasted arms, forearms and hand but no evidence of pyramidal tract, spinothalmic tract and posterior column lesions. Plain cervical spine radiographs showed no abnormal findings. Cervical magnetic resonance imaging (MRI showed asymmetric cord atrophy; images obtained with neck flexed showed the anterior shifting of the posterior wall of the lower cervical dural sac resulting in cord compression. These findings suggest Hirayama disease, a kind of cervical myelopathy related to the flexion movements of the neck.

  5. [Bone disease in Gaucher's disease].

    Science.gov (United States)

    Roca Espiau, Mercedes

    2011-09-01

    The exposition aims, is to review the pathophysiological mechanisms of bone marrow involvement and the patterns of marrow infiltration by Gaucher cells. We have reviewed the different methods of assessment of bone marrow infiltration and its temporal development. Qualitative methods include simple radiography, magnetic resonance imaging (MRI), computed tomography (CT) and radioisotope. The simple radiography is the basic element, but its sensitivity is limited and only allows for assessing changes and trabecular bone remodeling MRI allows us to appreciate the bone marrow infiltration, detection of complications and response to therapy. Radioisotopes can contribute to the differential diagnosis of osteomyelitis and bone crises. Among the quantitative methods are the QCSI (quantitative chemical shift imaging) and the dual-energy X-ray absorptiometry (DEXA), as well as new quantitative techniques of CT, MRI and ultrasound densitometry. The QCSI performed an assessment of fat content of bone marrow in the spine. DEXA quantifies bone density by measuring the attenuation coefficient. The semiquantitative methods have various "scores" to establish criteria for generalized bone disease endpoints of disease progression and response to therapy.

  6. Undifferentiated Connective Tissue Disease

    Science.gov (United States)

    ... Home Conditions Undifferentiated Connective Tissue Disease (UCTD) Undifferentiated Connective Tissue Disease (UCTD) Make an Appointment Find a Doctor ... L. Goldstein, MD, MMSc (February 01, 2016) Undifferentiated connective tissue disease (UCTD) is a systemic autoimmune disease. This ...

  7. Associated Autoimmune Diseases

    Science.gov (United States)

    ... gland in the neck, thick and coarse hair. Addison’s Disease Arare disease involving the adrenal gland. The prevalence of celiac disease in people with addison’s disease is significant. Symptoms of Addison’s may include weight ...

  8. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  9. Chronic Beryllium Disease

    Science.gov (United States)

    ... Science Education & Training Home Conditions Chronic Beryllium Disease Chronic Beryllium Disease Make an Appointment Find a Doctor ... MD, MSPH, FCCP (February 01, 2016) What is chronic beryllium disease (CBD)? Chronic beryllium disease (CBD) is ...

  10. Heart disease - risk factors

    Science.gov (United States)

    Heart disease - prevention; CVD - risk factors; Cardiovascular disease - risk factors; Coronary artery disease - risk factors; CAD - risk ... a certain health condition. Some risk factors for heart disease you cannot change, but some you can. ...

  11. Inflammation and Heart Disease

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Inflammation and Heart Disease Updated:Oct 12,2016 Understand the risks of ... inflammation causes cardiovascular disease, inflammation is common for heart disease and stroke patients and is thought to be ...

  12. Lipid Storage Diseases

    Science.gov (United States)

    ... age 2, usually from lung disease. Children with Tay-Sachs and Sandhoff diseases often die at an ... age 2, usually from lung disease. Children with Tay-Sachs and Sandhoff diseases often die at an ...

  13. Heart disease and women

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/007188.htm Heart disease and women To use the sharing features on ... please enable JavaScript. People often DO NOT consider heart disease a woman's disease. Yet cardiovascular disease is the ...

  14. Men and Heart Disease

    Science.gov (United States)

    ... Pressure Salt Cholesterol Million Hearts® WISEWOMAN Men and Heart Disease Fact Sheet Recommend on Facebook Tweet Share Compartir Source: Interactive Atlas of Heart Disease and Stroke Heart Disease Facts in Men Heart disease is the leading ...

  15. American Lyme Disease Foundation

    Science.gov (United States)

    ... Infectious Diseases, 35: 451-464, 2002) What is Lyme Disease? Lyme disease (LD) is an infection caused by ... mission with your own tax-deductible contribution. American Lyme Disease Foundation, Inc. PO Box 466 Lyme, CT 06371 ...

  16. Thyroid Disease (for Parents)

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Thyroid Disease KidsHealth > For Parents > Thyroid Disease Print A ... many other parts of the body. What Is Thyroid Disease? Thyroid disease is when the thyroid gland ...

  17. Thyroid Disease and Teens

    Science.gov (United States)

    ... Surgery? Choosing the Right Sport for You Shyness Thyroid Disease KidsHealth > For Teens > Thyroid Disease Print A ... other parts of your body. continue What Is Thyroid Disease? Thyroid disease occurs when the thyroid gland ...

  18. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  19. Pelvic Inflammatory Disease (PID)

    Science.gov (United States)

    ... Management Education & Events Advocacy For Patients About ACOG Pelvic Inflammatory Disease (PID) Home For Patients Search FAQs Pelvic Inflammatory ... Inflammatory Disease (PID) FAQ077, September 2015 PDF Format Pelvic Inflammatory Disease (PID) Gynecologic Problems What is pelvic inflammatory disease ( ...

  20. Thyroid Disease (for Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Thyroid Disease KidsHealth > For Parents > Thyroid Disease A A ... many other parts of the body. What Is Thyroid Disease? Thyroid disease is when the thyroid gland ...

  1. Thyroid Disease and Teens

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Thyroid Disease KidsHealth > For Teens > Thyroid Disease A A ... other parts of your body. continue What Is Thyroid Disease? Thyroid disease occurs when the thyroid gland ...

  2. Sickle Cell Disease

    Science.gov (United States)

    ... sickle cell disease?Sickle cell disease, also called sickle cell anemia, is a hereditary condition (which means it runs ... disease, hemoglobin SS disease, hemoglobin synthesis, hemoglobinopathies, ... cell anemia, sickle cell crisis, vaso-occlusive crisis Family Health, ...

  3. Gaucher Disease in Pregnancy

    Science.gov (United States)

    ... from your health care provider. What is Gaucher disease? Gaucher disease is a genetic disorder. People with Gaucher ... severe and depend on the type of Gaucher disease. Gaucher disease occurs in approximately 1 in 60,000 ...

  4. Aortic Valve Disease

    Science.gov (United States)

    ... Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that are ... Transplantation End-stage Lung Disease Adult Lung Transplantation Pediatric Lung ... Aortic Aneurysm Aortic Valve Disease Overview The human heart has ...

  5. What Is Vascular Disease?

    Science.gov (United States)

    ... Donors Corporate Sponsors Donor Privacy Policy What Is Vascular Disease? What Is Vascular Disease? Vascular disease is any abnormal condition of ... steps to prevent vascular disease here. Understanding the Vascular System Your vascular system – the highways of the ...

  6. Parkinson's disease.

    Science.gov (United States)

    Benninger, David H

    2013-01-01

    In advanced Parkinson's disease (PD), the emergence of symptoms refractory to conventional therapy poses therapeutic challenges. The success of deep brain stimulation (DBS) and advances in the understanding of the pathophysiology of PD have raised interest in noninvasive brain stimulation as an alternative therapeutic tool. The rationale for its use draws from the concept that reversing abnormalities in brain activity and physiology thought to cause the clinical deficits may restore normal functioning. Currently the best evidence in support of this concept comes from DBS, which improves motor deficits, and modulates brain activity and motor cortex physiology, although whether a causal interaction exists remains largely undetermined. Most trials of noninvasive brain stimulation in PD have applied repetitive transcranial magnetic stimulation (rTMS), targeting the motor cortex. Current studies suggest a possible therapeutic potential for rTMS and transcranial direct current stimulation (tDCS), but clinical effects so far have been small and negligible with regard to functional independence and quality of life. Approaches to potentiate the efficacy of rTMS include increasing stimulation intensity and novel stimulation parameters that derive their rationale from studies on brain physiology. These novel parameters are intended to simulate normal firing patterns or to act on the hypothesized role of oscillatory activity in the motor cortex and basal ganglia with regard to motor control and its contribution to the pathogenesis of motor disorders. Noninvasive brain stimulation studies will enhance our understanding of PD pathophysiology and might provide further evidence for potential therapeutic applications.

  7. [Castleman disease].

    Science.gov (United States)

    Belletti, Gerardo A; Savio, Verónica; Minoldo, Daniel; Caminos, Susana; Yorio, Marcelo A

    2004-01-01

    A 66 years female, who was since last year under astenia, arthralgias, pimply lesions in spread plates and tests showing eritrosedimentation over 100 mm, anemi, leucocitosis with neutrofilia, policlonal hypergammaglobulinemia, slight proteinuria and IgE on 900. This patient was sporadically treated with corticoids. When made the medical consult had lost 34lb., was under anorexy, as well as dyspepsia. Hemoglobyn 6.9 gr/dl, leucocytes 20000/mm3, neutrofils at 90%, proteinogram the same as former, with hypoalbuminemia. She was taking prednisona, 16 mg/day. When examined showed depress of conscience, astenia, and dermic lesions already quoted. 4 cm nonpainful right axillary adenopaty adhered to deep planes. Medulogram with increased iron, hyperegenerative. Ganglionar biopsia: linfoid hyperplasic process linked to inmune response. Toracoabdominal tomography with adenomegalia in torax and retroperitoneo. Skin biopsia: neutrofilic vasculitis. The patient suspends the 16 mg of prednisona and fever as well as generalized adenopatias come up. After laying aside other ethiologies, and understanding as Castleman Multicentric disease, it is started to supply prednisona 1 mg/kg of weight with a clinical and biochemical fast and outstanding response. After 7 months it was progressively suspended the esteroids and 60 days later, the process fall back; for that, corticoids are restarted, with a good evolution. The illness of Castleman although it is not very frequent, it should be considered as differential diagnosis in those clinical cases that are accompanied with important general commitment, linphadenopaties and respons to steroid therapy.

  8. Blood and Lymph Diseases

    Science.gov (United States)

    ... and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Blood and Lymph Diseases. PDF version of this page ( ... On Blood and Lymph Diseases - Genes and Disease Blood and Lymph Diseases - Genes and Disease Your browsing ... Biotechnology Information , U.S. National Library of Medicine 8600 Rockville ...

  9. Muscle disease.

    Science.gov (United States)

    Tsao, Chang-Yong

    2014-02-01

    On the basis of strong research evidence, Duchenne muscular dystrophy (DMD), the most common severe childhood form of muscular dystrophy, is an X-linked recessive disorder caused by out-of-frame mutations of the dystrophin gene. Thus, it is classified asa dystrophinopathy. The disease onset is before age 5 years. Patients with DMD present with progressive symmetrical limb-girdle muscle weakness and become wheelchair dependent after age 12 years. (2)(3). On the basis of some research evidence,cardiomyopathy and congestive heart failure are usually seen in the late teens in patients with DMD. Progressive scoliosis and respiratory in sufficiency often develop once wheelchair dependency occurs. Respiratory failure and cardiomyopathy are common causes of death, and few survive beyond the third decade of life. (2)(3)(4)(5)(6)(7). On the basis of some research evidence, prednisone at 0.75 mg/kg daily (maximum dose, 40 mg/d) or deflazacort at 0.9 mg/kg daily (maximum dose, 39 mg/d), a derivative of prednisolone (not available in the United States), as a single morning dose is recommended for DMD patients older than 5 years, which may prolong independent walking from a few months to 2 years. (2)(3)(16)(17). Based on some research evidence, treatment with angiotensin-converting enzyme inhibitors, b-blockers, and diuretics has been reported to be beneficial in DMD patients with cardiac abnormalities. (2)(3)(5)(18). Based on expert opinion, children with muscle weakness and increased serum creatine kinase levels may be associated with either genetic or acquired muscle disorders (Tables 1 and 3). (14)(15)

  10. High-performance genetically targetable optical neural silencing by light-driven proton pumps.

    Science.gov (United States)

    Chow, Brian Y; Han, Xue; Dobry, Allison S; Qian, Xiaofeng; Chuong, Amy S; Li, Mingjie; Henninger, Michael A; Belfort, Gabriel M; Lin, Yingxi; Monahan, Patrick E; Boyden, Edward S

    2010-01-07

    The ability to silence the activity of genetically specified neurons in a temporally precise fashion would provide the opportunity to investigate the causal role of specific cell classes in neural computations, behaviours and pathologies. Here we show that members of the class of light-driven outward proton pumps can mediate powerful, safe, multiple-colour silencing of neural activity. The gene archaerhodopsin-3 (Arch) from Halorubrum sodomense enables near-100% silencing of neurons in the awake brain when virally expressed in the mouse cortex and illuminated with yellow light. Arch mediates currents of several hundred picoamps at low light powers, and supports neural silencing currents approaching 900 pA at light powers easily achievable in vivo. Furthermore, Arch spontaneously recovers from light-dependent inactivation, unlike light-driven chloride pumps that enter long-lasting inactive states in response to light. These properties of Arch are appropriate to mediate the optical silencing of significant brain volumes over behaviourally relevant timescales. Arch function in neurons is well tolerated because pH excursions created by Arch illumination are minimized by self-limiting mechanisms to levels comparable to those mediated by channelrhodopsins or natural spike firing. To highlight how proton pump ecological and genomic diversity may support new innovation, we show that the blue-green light-drivable proton pump from the fungus Leptosphaeria maculans (Mac) can, when expressed in neurons, enable neural silencing by blue light, thus enabling alongside other developed reagents the potential for independent silencing of two neural populations by blue versus red light. Light-driven proton pumps thus represent a high-performance and extremely versatile class of 'optogenetic' voltage and ion modulator, which will broadly enable new neuroscientific, biological, neurological and psychiatric investigations.

  11. Conversion of cDNA differential display results (DDRT-PCR into quantitative transcription profiles

    Directory of Open Access Journals (Sweden)

    Koopmann Birger

    2005-04-01

    Full Text Available Abstract Background Gene expression studies on non-model organisms require open-end strategies for transcription profiling. Gel-based analysis of cDNA fragments allows to detect alterations in gene expression for genes which have neither been sequenced yet nor are available in cDNA libraries. Commonly used protocols for gel-based transcript profiling are cDNA differential display (DDRT-PCR and cDNA-AFLP. Both methods have been used merely as qualitative gene discovery tools so far. Results We developed procedures for the conversion of cDNA Differential Display data into quantitative transcription profiles. Amplified cDNA fragments are separated on a DNA sequencer and detector signals are converted into virtual gel images suitable for semi-automatic analysis. Data processing consists of four steps: (i cDNA bands in lanes corresponding to samples treated with the same primer combination are matched in order to identify fragments originating from the same transcript, (ii intensity of bands is determined by densitometry, (iii densitometric values are normalized, and (iv intensity ratio is calculated for each pair of corresponding bands. Transcription profiles are represented by sets of intensity ratios (control vs. treatment for cDNA fragments defined by primer combination and DNA mobility. We demonstrated the procedure by analyzing DDRT-PCR data on the effect of secondary metabolites of oilseed rape Brassica napus on the transcriptome of the pathogenic fungus Leptosphaeria maculans. Conclusion We developed a data processing procedure for the quantitative analysis of amplified cDNA fragments separated by electrophoresis. The system utilizes common software and provides an open-end alternative to DNA microarray analysis of the transcriptome. It is expected to work equally well with DDRT-PCR and cDNA-AFLP data and be useful particularly in reseach on organisms for which microarray analysis is not available or economical.

  12. Alzheimer disease: An interactome of many diseases

    Directory of Open Access Journals (Sweden)

    Balaji S Rao

    2014-01-01

    Full Text Available Alzheimer Disease (AD is an outcome as well as source of many diseases. Alzheimer is linked with many other diseases like Diabetes type 2, cholesterolemia, hypertension and many more. But how each of these diseases affecting other is still unknown to scientific community. Signaling Pathways of one disease is interlinked with other disease. But to what extent healthy brain is affected when any signaling in human body is disturbed is the question that matters. There is a need of Pathway analysis, Protein-Protein interaction (PPI and the conserved interactome study in AD and linked diseases. It will be helpful in finding the potent drug or vaccine target in conscious manner. In the present research the Protein-Protein interaction of all the proteins involved in Alzheimer Disease is analyzed using ViSANT and osprey tools and pathway analysis further reveals the significant genes/proteins linking AD with other diseases.

  13. Association between periodontal diseases and systemic diseases.

    Science.gov (United States)

    Weidlich, Patrícia; Cimões, Renata; Pannuti, Claudio Mendes; Oppermann, Rui Vicente

    2008-01-01

    Current evidence suggests that periodontal disease may be associated with systemic diseases. This paper reviewed the published data about the relationship between periodontal disease and cardiovascular diseases, adverse pregnancy outcomes, diabetes and respiratory diseases, focusing on studies conducted in the Brazilian population. Only a few studies were found in the literature focusing on Brazilians (3 concerning cardiovascular disease, 7 about pregnancy outcomes, 9 about diabetes and one regarding pneumonia). Although the majority of them observed an association between periodontitis and systemic conditions, a causal relationship still needs to be demonstrated. Further studies, particularly interventional well-designed investigations, with larger sample sizes, need to be conducted in Brazilian populations.

  14. Inflammatory bowel disease and airway diseases

    Science.gov (United States)

    Vutcovici, Maria; Brassard, Paul; Bitton, Alain

    2016-01-01

    Airway diseases are the most commonly described lung manifestations of inflammatory bowel disease (IBD). However, the similarities in disease pathogenesis and the sharing of important environmental risk factors and genetic susceptibility suggest that there is a complex interplay between IBD and airway diseases. Recent evidence of IBD occurrence among patients with airway diseases and the higher than estimated prevalence of subclinical airway injuries among IBD patients support the hypothesis of a two-way association. Future research efforts should be directed toward further exploration of this association, as airway diseases are highly prevalent conditions with a substantial public health impact. PMID:27678355

  15. Association between periodontal diseases and systemic diseases

    Directory of Open Access Journals (Sweden)

    Patrícia Weidlich

    2008-08-01

    Full Text Available Current evidence suggests that periodontal disease may be associated with systemic diseases. This paper reviewed the published data about the relationship between periodontal disease and cardiovascular diseases, adverse pregnancy outcomes, diabetes and respiratory diseases, focusing on studies conducted in the Brazilian population. Only a few studies were found in the literature focusing on Brazilians (3 concerning cardiovascular disease, 7 about pregnancy outcomes, 9 about diabetes and one regarding pneumonia. Although the majority of them observed an association between periodontitis and systemic conditions, a causal relationship still needs to be demonstrated. Further studies, particularly interventional well-designed investigations, with larger sample sizes, need to be conducted in Brazilian populations.

  16. Skin Diseases: Skin Health and Skin Diseases

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin Health and Skin Diseases Past Issues / Fall 2008 Table of Contents ... acne to wrinkles Did you know that your skin is the largest organ of your body? It ...

  17. Acquired Cystic Kidney Disease

    Science.gov (United States)

    ... Kidney Disease (CKD) What Is Chronic Kidney Disease? Causes of CKD Tests & Diagnosis Managing CKD Eating Right Preventing CKD ... as polycystic kidney disease (PKD), another disease that causes the kidneys to ... chronic kidney disease (CKD)—a condition that develops over many years ...

  18. Lyme Disease (For Parents)

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Lyme Disease KidsHealth > For Parents > Lyme Disease Print A A ... en español La enfermedad de Lyme What Is Lyme Disease? Lyme disease is the leading tick-borne disease ...

  19. Virus diseases of fish

    Science.gov (United States)

    Watson, Stanley W.

    1954-01-01

    Viruses are probably the cause of a wide spectrum of fish diseases. Although relatively few virus diseases of fish are known today, some of the diseases of unknown etiology, as well as some diseases presently accepted as due to bacteria, protozoa, fungi or nutritional deficiencies, possibly will be recognized eventually as virus diseases.

  20. KEGG DISEASE / Acute encephalitis [KEGG DISEASE

    Lifescience Database Archive (English)

    Full Text Available DISEASE: H01417 Entry H01417Disease Name Acute encephalitis Description Acute encep...ns Infections caused by dsDNA viruses H01417Acute encephalitis Human diseases in ICD-10 classification [BR:b...of the central nervous system G04Encephalitis, myelitis and encephalomyelitis H01417Acute encephalitis Patho...elines for management. Journal Eur J Neurol 12:331-43 (2005) KEGG DISEASE / Acute encephalitis ...

  1. Coronary Artery Disease - Coronary Heart Disease

    Science.gov (United States)

    ... result of coronary artery disease, or CAD, said Edward A. Fisher, M.D., Ph.D., M.P. ... Problems and Disease • High Blood Pressure (HBP) • Metabolic Syndrome • Pericarditis • Peripheral Artery Disease (PAD) • Stroke • Vascular Health • ...

  2. KEGG DISEASE / Acute alcohol sensitivity [KEGG DISEASE

    Lifescience Database Archive (English)

    Full Text Available DISEASE: H01071 Entry H01071Disease Name Acute alcohol sensitivity Description Alde...bolism Congenital disorders of carbohydrate metabolism H01071Acute alcohol sensit...eases. Journal Cardiovasc Res 88:51-7 (2010) KEGG DISEASE / Acute alcohol sensitivity ...

  3. Lysosomal storage disease 2 - Pompe's disease

    NARCIS (Netherlands)

    van der Ploeg, Ans T.; Reuser, Arnold J. J.

    2008-01-01

    Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also

  4. Anemia of chronic disease

    Science.gov (United States)

    ... disease Long-term infections, such as bacterial endocarditis, osteomyelitis (bone infection), HIV/AIDS , hepatitis B or hepatitis ... disease Crohn disease Erythropoietin test Juvenile idiopathic arthritis Osteomyelitis Rheumatic fever Ulcerative colitis Review Date 2/1/ ...

  5. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Parkinson's Disease Cognition: A Mind Guide to Parkinson’s Disease Nutrition Matters Speech and Swallowing Psychosis: A Mind Guide to Parkinson's Disease Guide to Deep Brain Stimulation You Can Make ...

  6. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... and Social Network? How Does Parkinson's Disease Affect Memory? How Does Parkinson's Disease Affect the Urinary System? ... Parkinson's Disease Patients with a Depression Diagnosis? What Type of Exercise or Exercise Programs Are Recommended? What ...

  7. Newcastle Disease Virus (PDQ)

    Science.gov (United States)

    ... Professionals Questions to Ask about Your Treatment Research Newcastle Disease Virus (PDQ®)–Patient Version Overview Go to ... cancer (see Question 8 ). Questions and Answers About Newcastle Disease Virus What is Newcastle disease virus? Newcastle ...

  8. Learn About Neuromuscular Disease

    Science.gov (United States)

    ... Inherited and Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Muscular Dystrophy (MMD) Spinal-Bulbar Muscular ... Deficient Congenital Muscular Dystrophy Metabolic Diseases of Muscle Mitochondrial Myopathy Miyoshi Distal Myopathy Motor Neurone Disease Muscle-Eye- ...

  9. Autoimmune liver disease panel

    Science.gov (United States)

    Liver disease test panel - autoimmune ... Autoimmune disorders are a possible cause of liver disease. The most common of these diseases are autoimmune hepatitis and primary biliary cholangitis (formerly called primary biliary cirrhosis). This group of tests ...

  10. Liver Disease and IBD

    Science.gov (United States)

    ... Home > Resources > Liver Disease and IBD Go Back Liver Disease and IBD Email Print + Share Several complications ... be necessary to make the definitive diagnosis. FATTY LIVER DISEASE (HEPATCI STEATOSIS) This is the most common ...

  11. Leprosy (Hansen's Disease)

    Science.gov (United States)

    ... with facebook share with twitter share with linkedin Leprosy (Hansen's Disease) Leprosy (Hansen's Disease) is a chronic ... as Mycobacterium leprae . Why Is the Study of Leprosy (Hansen's Disease) a Priority for NIAID? At the ...

  12. Reflux and Lung Disease

    Science.gov (United States)

    ... Healthy Eating Reflux and Lung Disease Reflux and Lung Disease Make an Appointment Ask a Question Find a Doctor Many people with chronic lung disease also suffer from gastroesophageal reflux (GERD). In this ...

  13. Tay-Sachs Disease

    Science.gov (United States)

    Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It ... cells, causing mental and physical problems. . Infants with Tay-Sachs disease appear to develop normally for the ...

  14. Diabetic Heart Disease

    Science.gov (United States)

    ... be coronary heart disease (CHD), heart failure, and diabetic cardiomyopathy. Diabetes by itself puts you at risk for heart disease. Other risk factors include Family history of heart disease Carrying extra ...

  15. Heart Disease (For Kids)

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Heart Disease KidsHealth > For Kids > Heart Disease Print A A ... chest pain, heart attacks, and strokes . What Is Heart Disease? The heart is the center of the cardiovascular ...

  16. Heart Diseases and Disorders

    Science.gov (United States)

    ... Resources Heart Diseases & Disorders Back to Patient Resources Heart Diseases & Disorders Millions of people experience irregular heartbeats, called ... harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious ...

  17. Parkinson disease - discharge

    Science.gov (United States)

    Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads to ... have you take different medicines to treat your Parkinson disease and many of the problems that may come ...

  18. What Is Parkinson's Disease?

    Science.gov (United States)

    ... resources & more. Order Free Materials Today What is Parkinson’s Disease? Parkinson's disease (PD) is a chronic and progressive movement disorder, ... million people in the US are living with Parkinson's disease. The cause is unknown, and although there is ...

  19. Cardiovascular Disease and Diabetes

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Cardiovascular Disease & Diabetes Updated:Apr 14,2017 The following statistics speak ... disease. This content was last reviewed August 2015. Diabetes • Home • About Diabetes • Why Diabetes Matters Introduction Cardiovascular ...

  20. Heart Disease Risk Factors

    Science.gov (United States)

    ... Hearts® WISEWOMAN Program Other Chronic Disease Topics Diabetes Nutrition Obesity Physical Activity Stroke Heart Disease Risk Factors Recommend ... Hearts® WISEWOMAN Program Other Chronic Disease Topics Diabetes Nutrition Obesity Physical Activity Stroke File Formats Help: How do ...

  1. Lyme disease (image)

    Science.gov (United States)

    Lyme disease is an acute inflammatory disease characterized by skin changes, joint inflammation and symptoms similar to the ... that is caused by the bacterium Borrelia burgdorferi . Lyme disease is transmitted by the bite of a deer ...

  2. Kidney Disease (Nephropathy)

    Science.gov (United States)

    ... Text Size: A A A Listen En Español Kidney Disease (Nephropathy) Kidneys are remarkable organs. Inside them ... resulting in kidney disease. How Does Diabetes Cause Kidney Disease? When our bodies digest the protein we ...

  3. Learning about Dercum Disease

    Science.gov (United States)

    ... About Dercum Disease Specific Genetic Disorders Specific Genetic Disorders Learning About Prostate Cancer See Also: Talking Glossary of ... Definitions for genetic terms used on this page. Learning About Dercum Disease What is Dercum disease? What are the symptoms ...

  4. Learning about Parkinson's Disease

    Science.gov (United States)

    ... About Parkinson's Disease Specific Genetic Disorders Specific Genetic Disorders Learning About Prostate Cancer See Also: Talking Glossary of ... diseases Journal of Biological Chemistry , June 9, 2011 Learning About Parkinson's Disease What do we know about heredity and Parkinson's ...

  5. Pediatric Celiac Disease

    Science.gov (United States)

    ... of Pediatric Gastroenterology and Nutrition Nurses Print Share Celiac Disease Many kids have sensitivities to certain foods, and ... protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, consuming gluten ...

  6. Eye Disease Simulations

    Science.gov (United States)

    ... USAJobs Home > Eye Health Information > Eye Disease Simulations Eye Disease Simulations Age-Related Macular Degeneration Cataract Diabetic ... information page Back to top Diabetic Retinopathy Diabetic Eye Disease information page Back to top Glaucoma Glaucoma ...

  7. Diabetic Eye Disease

    Science.gov (United States)

    ... Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group of ... loss can occur. How does diabetes affect my eyes? Diabetes affects your eyes when your blood glucose, ...

  8. Understanding cardiovascular disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000759.htm Understanding cardiovascular disease To use the sharing features on this page, ... lead to heart attack or stroke. Types of Cardiovascular Disease Coronary heart disease (CHD) is the most common ...

  9. Menopause and Heart Disease

    Science.gov (United States)

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Menopause and Heart Disease Updated:Jun 23,2017 Heart ... can become more evident after the onset of menopause. Menopause does not cause cardiovascular diseases . However, certain ...

  10. Cholestatic liver disease masquerading as Wilson disease.

    Science.gov (United States)

    Sood, Vikrant; Rawat, Dinesh; Khanna, Rajeev; Alam, Seema

    2015-03-01

    Wilson disease and cholestatic liver diseases may present as a diagnostic dilemma if standard guidelines incorporating markers of copper overload are followed. We hereby present a series of four cases of sclerosing cholangitis masquerading as Wilson disease. True Wilson disease cases had significantly lower ceruloplasmin (6 vs. 16 mg/dL) and higher 24-hour urinary copper (322.3 vs. 74.5 μg/day) as compared to mimickers. Initial low serum ceruloplasmin levels normalized in mimickers on follow up, and this may used as a diagnostic indicator. Standard Wilson disease diagnostic criteria thus need further modification especially in developing countries to help avoid mismanagement.

  11. Disease cycle approach to plant disease prediction.

    Science.gov (United States)

    De Wolf, Erick D; Isard, Scott A

    2007-01-01

    Plant disease cycles represent pathogen biology as a series of interconnected stages of development including dormancy, reproduction, dispersal, and pathogenesis. The progression through these stages is determined by a continuous sequence of interactions among host, pathogen, and environment. The stages of the disease cycle form the basis of many plant disease prediction models. The relationship of temperature and moisture to disease development and pathogen reproduction serve as the basis for most contemporary plant disease prediction systems. Pathogen dormancy and inoculum dispersal are considered less frequently. We found extensive research efforts evaluating the performance of prediction models as part of operation disease management systems. These efforts appear to be greater than just a few decades ago, and include novel applications of Bayesian decision theory. Advances in information technology have stimulated innovations in model application. This trend must accelerate to provide the disease management strategies needed to maintain global food supplies.

  12. Rheumatoid lung disease

    Science.gov (United States)

    Lung disease - rheumatoid arthritis; Rheumatoid nodules; Rheumatoid lung ... They often cause no symptoms. The cause of lung disease associated with rheumatoid arthritis is unknown. Sometimes, the ...

  13. Liver in systemic disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Potential causes of abnormal liver function tests include viral hepatitis, alcohol intake, nonalcoholic fatty liver disease, autoimmune liver diseases, hereditary diseases, hepatobiliary malignancies or infection, gallstones and drug-induced liver injury. Moreover, the liver may be involved in systemic diseases that mainly affect other organs. Therefore, in patients without etiology of liver injury by screening serology and diagnostic imaging, but who have systemic diseases, the abnormal liver function test results might be caused by the systemic disease. In most of these patients, the systemic disease should be treated primarily. However, some patients with systemic disease and severe liver injury or fulminant hepatic failure require intensive treatments of the liver.

  14. Biomarker for Glycogen Storage Diseases

    Science.gov (United States)

    2017-07-03

    Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

  15. [Wilson's disease: clinical spectrum of liver disease].

    Science.gov (United States)

    Ochoa Palominos, Alejandra; Ibáñez Samaniego, Luis; Catalina Rodríguez, María-Vega; Pajares Díaz, José; Clemente Ricote, Gerardo

    2013-02-01

    Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism,characterized by copper accumulation in the liver and brain. This rare entity, which has a broad clinical spectrum, is often difficult to diagnose and should therefore always be suspected in patients with liver disease of unclear cause. We describe two types of manifestation of liver disease in two patients; the first developed fulminant hepatic failure requiring urgent liver transplantation and the second showed advanced chronic liver disease and received standard medical treatment. The objective of this clinical observation is to analyze the diagnosis of Wilson's disease in two patients with distinct onset, illustrating the broad clinical spectrum of the disease, and its treatment.

  16. Interstitial Lung Diseases

    Science.gov (United States)

    Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to ... air is responsible for some types of interstitial lung diseases. Specific types include Black lung disease among ...

  17. What Causes Heart Disease?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Heart Disease? Research suggests that coronary heart disease (CHD) begins with damage to the lining and ... causing coronary microvascular disease (MVD). Coronary MVD is heart disease that affects the heart's tiny arteries. The cause ...

  18. PERIANAL CROHNS-DISEASE

    NARCIS (Netherlands)

    HOEDEMAKER, HOT

    1994-01-01

    Perianal disease in Crohn's disease is a difficult matter to deal with. The indication for therapy is not always clear in this disease with a relatively mild natural course. More confusion is caused by the fact that not all disease in the perianal region in a patient with Crohn's has to be Crohn-rel

  19. Occupational skin diseases

    DEFF Research Database (Denmark)

    Mahler, Vera; Aalto-Korte, Kristiina; Alfonso, Jose Hernan

    2017-01-01

    BACKGROUND: Work-related skin diseases (WSD) are caused or worsened by a professional activity. Occupational skin diseases (OSD) need to fulfil additional legal criteria which differ from country to country. OSD range amongst the five most frequently notified occupational diseases (musculoskeletal...... diseases, neurologic diseases, lung diseases, diseases of the sensory organs, skin diseases) in Europe. OBJECTIVE: To retrieve information and compare the current state of national frameworks and pathways to manage patients with occupational skin disease with regard to prevention, diagnosis, treatment...... in Science and Technology (COST) Action TD 1206 (StanDerm) (www.standerm.eu). RESULTS: Besides a national health service or a statutory health insurance, most European member states implemented a second insurance scheme specifically geared at occupational diseases [insurance against occupational risks...

  20. [Periodontal disease in pediatric rheumatic diseases].

    Science.gov (United States)

    Fabri, Gisele M C; Savioli, Cynthia; Siqueira, José T; Campos, Lucia M; Bonfá, Eloisa; Silva, Clovis A

    2014-01-01

    Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity.

  1. Huntington’s Disease

    Science.gov (United States)

    2012-05-01

    New advances in disease testing and diagnosis, such as genetic testing , now provide increased means for disease diagnosis but also possible therapeutic...treatments. Indeed, according to some experts, genetic testing and therapy may be key to future disease detection, therapy, and even prevention. In...associated with its long-term management. 15. SUBJECT TERMS Neurological disease , genetic testing , aeromedical concerns, Huntington’s disease 16

  2. Genetic diseases in adults.

    Science.gov (United States)

    Kolettis, Peter N

    2003-02-01

    Genetic diseases that do not primarily affect the genitourinary tract may have urologic manifestations. These urologic manifestations range from benign and malignant renal disease to infertility. Thus, the practicing urologist may be involved in the care of these patients and should have knowledge of these diseases. Continued improvements in the diagnosis and treatment of these genetic diseases will likely result in improved survival and will increase the number of patients who may develop urologic manifestations of these diseases.

  3. Pregnancy and periodontal disease

    OpenAIRE

    SAĞLAM, Ebru; SARUHAN, Nesrin; Çanakçı, Cenk Fatih

    2015-01-01

    Some maternal immunological changes due to pregnancy increases susceptibility to infections. Periodontal disease, the main cause is plaque, is a common disease which is seen multifactorial and varying severity. There are many clinical criteria for diagnosis of periodontal disease. Correlation between pregnancy and periodontal inflammation is known for many years. Periodontal disease affects pregnant’s systemic condition and also has negative effects on fetus. Periodontal disease increases the...

  4. The Relationship Between Fatty Liver Disease and Periodontal Disease

    Science.gov (United States)

    2017-03-22

    Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...systemic diseases ( diabetes , cardiovascular disease, chronic kidney disease, adverse pregnancy outcome, etc.). Non-alcoholic fatty liver disease is a...destruction seen in periodontal disease. The association between the two diseases has never been investigated. A reasonable mechanism in which periodontal

  5. 黑胫病弱毒种Leptosphaeria biglobosa通过不同的信号途径诱导油菜抗性

    Institute of Scientific and Technical Information of China (English)

    刘胜毅; 刘仁虎; Akinwunmi; O; Latunde-Dada; Hans; Cools; Huang; Y; J; Bruce; D; L; Fitt; John; A; Lucas

    2005-01-01

    油菜黑胫病是由两种类型病原引起的,分别为A型强致病株(L.maculans)和B型弱致病株,B型现命名为一个新种L.biglobosa。本试验研究了弱致病株诱导的针对强致病株的抗性及其分子信号途径。油菜叶分别用弱致病株子囊孢子预接种和及病害防御反应信号分子水杨酸类似物(acibenzolar—Smethyl,ASM)与维生素K3(menadione sodium bisulphate,MSB)处理,然后挑战接种强致病株子囊孢子。在控制条件下的试验中,预接种和预处理均推迟了由强致病株引起的病害症状的出现,

  6. Tay-Sachs Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  7. Infantile Refsum Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  8. What Is Kawasaki Disease?

    Science.gov (United States)

    ANSWERS by heart Cardiovascular Conditions What is Kawasaki Disease? Kawasaki disease is a children’s illness. It’s also known as Kawasaki syndrome or mucocutaneous lymph node syndrome. About 75 percent of people ...

  9. Mitral Valve Disease

    Science.gov (United States)

    ... for more information on procedures, news, and pre- & post-operative care. Section Navigation Select Topic Aortic Valve Disease ... is most commonly caused by inflammation from rheumatic fever, a disease that is related to strep infections; ...

  10. Treatments for Alzheimer's Disease

    Science.gov (United States)

    ... 3900 Find your chapter: search by state Home > Alzheimer's Disease > Treatments Overview What Is Dementia? What Is Alzheimer's? ... and move closer to a cure. Treatments for Alzheimer's disease Currently, there is no cure for Alzheimer's. But ...

  11. Heart Diseases--Prevention

    Science.gov (United States)

    ... you have a close family member who had heart disease at an early age. Fortunately, there are many things you can do reduce your chances of getting heart disease. You should Know your blood pressure and keep ...

  12. Lyme disease antibody

    Science.gov (United States)

    ... JavaScript. The Lyme disease blood test looks for antibodies in the blood to the bacteria that causes ... needed. A laboratory specialist looks for Lyme disease antibodies in the blood sample using the ELISA test . ...

  13. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Care: Real Stories Betsaida Cruz, PT, Long Beach Memorial Medicinal: “Terapia fisica para el Parkinson” Building a ... and Social Network? How Does Parkinson's Disease Affect Memory? How Does Parkinson's Disease Affect the Urinary System? ...

  14. Addison's Disease: Treatment

    Science.gov (United States)

    Addison's disease Diagnosis Your doctor will talk to you first about your medical history and your signs and ... If your doctor thinks that you may have Addison's disease, you may undergo some of the following tests: ...

  15. Alcoholic liver disease

    Science.gov (United States)

    Liver disease due to alcohol; Cirrhosis or hepatitis - alcoholic; Laennec's cirrhosis ... Alcoholic liver disease occurs after years of heavy drinking. Over time, scarring and cirrhosis can occur. Cirrhosis is the ...

  16. Chronic granulomatous disease

    Science.gov (United States)

    CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis ... In chronic granulomatous disease (CGD), immune system cells called phagocytes are unable to kill some types of bacteria and ...

  17. Valvular heart disease

    OpenAIRE

    Gelson, E; Gatzoulis, M; Johnson, M.

    2007-01-01

    Valvular disease may be unmasked in pregnancy when physiological changes increase demands on the heart. Women with valvular heart disease require close follow-up during pregnancy, delivery, and postpartum

  18. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Use for Freezing? Are There Any Ways to Control the Rate of Progression of the Disease? Ask ... Memory? How Does Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's Patients? How ...

  19. Celiac disease - nutritional considerations

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/002443.htm Celiac disease - nutritional considerations To use the sharing features on this page, please enable JavaScript. Celiac disease is an immune disorder passed down through families. ...

  20. Hypothyroidism and Heart Disease

    Science.gov (United States)

    ... in Balance › Hypothyroidism and Heart Disease Fact Sheet Hypothyroidism and Heart Disease January 2014 Download PDFs English ... nervous system, body temperature, and weight. What is hypothyroidism and what are its symptoms? Hypothyroidism, also called ...

  1. Genetic Disease Foundation

    Science.gov (United States)

    ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You can ... contributions to the diagnosis, prevention and treatment of genetic diseases. Learn how advances at Mount Sinai have impacted ...

  2. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Sexual Functioning? How Does Depression Affect the Patient's Family and Social Network? How Does Parkinson's Disease Affect Memory? How Does Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's Patients? How ...

  3. Pediatric inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Karen A Diefenbach; Christopher K Breuer

    2006-01-01

    Inflammatory bowel disease is an important cause of gastrointestinal pathology in children and adolescents.The incidence of pediatric inflammatory bowel disease is increasing; therefore, it is important for the clinician to be aware of the presentation of this disease in the pediatric population. Laboratory tests, radiology studies,and endoscopic procedures are helpful in diagnosing inflammatory bowel disease and differentiating between Crohn's disease and ulcerative colitis. Once diagnosed,the goal of medical management is to induce remission of disease while minimizing the side effects of the medication. Specific attention needs to be paid to achieving normal growth in this susceptible population.Surgical management is usually indicated for failure of medical management, complication, or malignancy.Algorithms for diagnostic evaluation and treatment of pediatric inflammatory bowel disease are presented.The specific psychosocial issues facing these patients are also discussed in this review as are the future goals of research in the complex problem of pediatric inflammatory bowel disease.

  4. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Disease Nutrition Matters Speech and Swallowing Psychosis: A Mind Guide to Parkinson's Disease Guide to Deep Brain Stimulation You Can Make A Difference Your donation to the National Parkinson Foundation goes ...

  5. American Behcet's Disease Association

    Science.gov (United States)

    ... Behcet's Awareness Day Behcet's Disease Awareness Share your story and educate others about Behcet's: www.rareconnect.org/en/community/behcet-s-syndrome Upcoming Events American Behcet's Disease Association PO BOX 80576 Rochester, MI ...

  6. What Is Parkinson's Disease?

    Science.gov (United States)

    ... million people in the US are living with Parkinson's disease. The cause is unknown, and although there is presently no ... a Diagnosis What is Parkinson’s Disease? ... Trials Statistics on Parkinson's What's New In Parkinson's Research? What's in the ...

  7. Sickle Cell Disease

    Science.gov (United States)

    ... About Us Overview of CDC’s work. Advancements in Sickle Cell Disease New supplement from the American Journal of Preventive Medicine describes the state of sickle cell disease related care in the United States. Read Supplement ...

  8. Learning about Huntington's Disease

    Science.gov (United States)

    ... Mouse Models Of Huntington's Disease 1998 News Release Learning About Huntington's Disease What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Huntington's Outreach ...

  9. Congenital heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  10. Aspirin and heart disease

    Science.gov (United States)

    ... medlineplus.gov/ency/patientinstructions/000092.htm Aspirin and heart disease To use the sharing features on this page, ... healthy people who are at low risk for heart disease. You provider will consider your overall medical condition ...

  11. Cyanotic heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001104.htm Cyanotic heart disease To use the sharing features on this page, please enable JavaScript. Cyanotic heart disease refers to a group of many different heart ...

  12. Managing Your Parkinson's Disease

    Science.gov (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  13. Pain in Parkinson's Disease

    Science.gov (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  14. Parkinson's Disease Foundation Newsletter

    Science.gov (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  15. Parkinson's Disease Foundation

    Science.gov (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  16. Diabetes and Kidney Disease

    Science.gov (United States)

    ... disease of diabetes, or diabetic nephropathy. How does diabetes cause kidney disease? High blood glucose , also called ... I keep my kidneys healthy if I have diabetes? The best way to slow or prevent diabetes- ...

  17. Pediatric Celiac Disease

    Science.gov (United States)

    ... Free Diet Guide Eosinophilic Esophagitis Inflammatory Bowel Disease Nutrition & Obesity Reflux & GERD Search Keyword Connect with Facebook Additional ... Nutrition (NASPGHAN) Celiac Disease Eosinophilic Esophagitis Pediatric IBD Nutrition & Obesity Reflux & GERD Research & Grants Our Supporters Site Map © ...

  18. Chronic Kidney Diseases

    Science.gov (United States)

    ... Room? What Happens in the Operating Room? Chronic Kidney Diseases KidsHealth > For Kids > Chronic Kidney Diseases Print ... re talking about your kidneys. What Are the Kidneys? Your kidneys are tucked under your lower ribs ...

  19. Polycystic kidney disease

    Science.gov (United States)

    Cysts - kidneys; Kidney - polycystic; Autosomal dominant polycystic kidney disease; ADPKD ... Polycystic kidney disease (PKD) is passed down through families (inherited). The 2 inherited forms of PKD are autosomal dominant ...

  20. Kidney Disease Basics

    Science.gov (United States)

    ... Links Take the first step Alternate Language URL Kidney Disease Basics Page Content Your kidneys filter extra ... blood pressure are the most common causes of kidney disease. ​These conditions can slowly damage the kidneys ...

  1. Diet - chronic kidney disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/002442.htm Diet - chronic kidney disease To use the sharing features on this page, ... make changes to your diet when you have chronic kidney disease. These changes may include limiting fluids, eating a ...

  2. Feline corneal disease.

    Science.gov (United States)

    Moore, Phillip Anthony

    2005-05-01

    The cornea is naturally transparent. Anything that interferes with the cornea's stromal architecture, contributes to blood vessel migration, increases corneal pigmentation, or predisposes to corneal edema, disrupts the corneas transparency and indicates corneal disease. The color, location, and shape and pattern of a corneal lesion can help in determining the underlying cause for the disease. Corneal disease is typically divided into congenital or acquired disorders. Congenital disorders, such as corneal dermoids are rare in cats, whereas acquired corneal disease associated with nonulcerative or ulcerative keratitis is common. Primary ocular disease, such as tear film instability, adenexal disease (medial canthal entropion, lagophthalmus, eyelid agenesis), and herpes keratitis are associated with the majority of acquired corneal disease in cats. Proliferative/eosinophilic keratitis, acute bullous keratopathy, and Florida keratopathy are common feline nonulcerative disorders. Nonprogressive ulcerative disease in cats, such as chronic corneal epithelial defects and corneal sequestration are more common than progressive corneal ulcerations.

  3. Carotid Artery Disease

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  4. Creutzfeldt-Jakob disease

    Science.gov (United States)

    ... part of a funeral ritual) Scrapie (found in sheep) Other very rare inherited human diseases, such as ... markers that sometimes occur with the disease CT scan of the brain Electroencephalogram (EEG) MRI of the ...

  5. Autoimmune Inner Ear Disease

    Science.gov (United States)

    ... Find an ENT Doctor Near You Autoimmune Inner Ear Disease Autoimmune Inner Ear Disease Patient Health Information ... with a hearing loss. How Does the Healthy Ear Work? The ear has three main parts: the ...

  6. [Depression and neurological diseases].

    Science.gov (United States)

    Piber, D; Hinkelmann, K; Gold, S M; Heesen, C; Spitzer, C; Endres, M; Otte, C

    2012-11-01

    In many neurological diseases a depressive syndrome is a characteristic sign of the primary disease or is an important comorbidity. Post-stroke depression, for example, is a common and relevant complication following ischemic brain infarction. Approximately 4 out of every 10 stroke patients develop depressive disorders in the course of the disease which have a disadvantageous effect on the course and the prognosis. On the other hand depression is also a risk factor for certain neurological diseases as was recently demonstrated in a meta-analysis of prospective cohort studies which revealed a much higher stroke risk for depressive patients. Furthermore, depression plays an important role in other neurological diseases with respect to the course and quality of life, such as Parkinson's disease, multiple sclerosis and epilepsy. This article gives a review of the most important epidemiological, pathophysiological and therapeutic aspects of depressive disorders as a comorbidity of neurological diseases and as a risk factor for neurological diseases.

  7. Sickle Cell Disease Quiz

    Science.gov (United States)

    ... Websites About Us Information For... Media Policy Makers Sickle Cell Disease Quiz Language: English Español (Spanish) Recommend on ... 1. True or False: Only African Americans get sickle cell disease. A True B False 2. True or ...

  8. Degenerative Nerve Diseases

    Science.gov (United States)

    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical ...

  9. Sexually Transmitted Diseases

    Science.gov (United States)

    Sexually transmitted diseases (STDs) are infections that are passed from one person to another through sexual contact. The causes of STDs ... often help with the symptoms and keep the disease under control. Correct usage of latex condoms greatly ...

  10. Celiac disease - sprue

    Science.gov (United States)

    ... Gluten intolerance; Gluten-sensitive enteropathy; Gluten-free diet celiac disease ... The exact cause of celiac disease is unknown. The lining of the intestines have small areas called villi which project outward into the opening of the ...

  11. Celiac Disease Tests

    Science.gov (United States)

    ... AACC products and services. Advertising & Sponsorship: Policy | Opportunities Celiac Disease Antibody Tests Share this page: Was this page ... else I should know? How is it used? Celiac disease antibody tests are primarily used to help diagnose ...

  12. Coronary Artery Disease

    Science.gov (United States)

    Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause of death ... happens when the arteries that supply blood to heart muscle become hardened and narrowed. This is due ...

  13. Women and Parasitic Diseases

    Science.gov (United States)

    ... Resources How to Find A Physician Diagnosis of Parasitic Diseases Statistics More Information Get Email Updates To receive ... often need special consideration when being treated for parasitic diseases in order to avoid harm to the fetus, ...

  14. Diagnosis of Parasitic Diseases

    Science.gov (United States)

    ... Laboratory Diagnostic Assistance [DPDx] Parasites Home Diagnosis of Parasitic Diseases Recommend on Facebook Tweet Share Compartir On this ... the United States cannot diagnose parasites? How are parasitic diseases diagnosed? Many kinds of lab tests are available ...

  15. Collagen vascular disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001223.htm Collagen vascular disease To use the sharing features on this ... previously said to have "connective tissue" or "collagen vascular" disease. We now have names for many specific ...

  16. Pelizaeus-Merzbacher Disease

    Science.gov (United States)

    ... diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span ... diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span ...

  17. Lewy Body Disease

    Science.gov (United States)

    Lewy body disease is one of the most common causes of dementia in the elderly. Dementia is the loss ... enough to affect normal activities and relationships. Lewy body disease happens when abnormal structures, called Lewy bodies, ...

  18. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's Patients? How Does the DBS ... A Mind Guide to Parkinson’s Disease Nutrition Matters Speech and Swallowing Psychosis: A Mind Guide to Parkinson's ...

  19. APOE Genotyping, Cardiovascular Disease

    Science.gov (United States)

    ... Home Visit Global Sites Search Help? APOE Genotyping, Cardiovascular Disease Share this page: Was this page helpful? Also ... of choice to decrease the risk of developing cardiovascular disease (CVD) . However, there is a wide variability in ...

  20. [Emerging noninfectious diseases].

    Science.gov (United States)

    Consiglio, Ezequiel

    2008-11-01

    In recent years, emerging diseases were defined as being infectious, acquiring high incidence, often suddenly, or being a threat or an unexpected phenomenon. This study discusses the hallmarks of emerging diseases, describing the existence of noninfectious emerging diseases, and elaborating on the advantages of defining noninfectious diseases as emerging ones. From the discussion of various mental health disorders, nutritional deficiencies, external injuries and violence outcomes, work injuries and occupational health, and diseases due to environmental factors, the conclusion is drawn that a wide variety of noninfectious diseases can be defined as emergent. Noninfectious emerging diseases need to be identified in order to improve their control and management. A new definition of "emergent disease" is proposed, one that emphasizes the pathways of emergence and conceptual traits, rather than descriptive features.

  1. Sniffing out disease

    NARCIS (Netherlands)

    Jansen, R.M.C.

    2007-01-01

    Research from Holland on early identification on plant disease from odours, provides a potential disease managment tool in glasshouses. Combined with precision technology could these techniques be of relevance to paddock production?

  2. Lyme Disease Data

    Science.gov (United States)

    ... Lyme disease FAQ Health care providers Educational materials Data and Statistics Recommend on Facebook Tweet Share Compartir ... in the northeast and upper Midwest. Lyme Disease Data File To facilitate the public health and research ...

  3. Self Inflicted Dermatological Diseases

    Directory of Open Access Journals (Sweden)

    Ertuğrul H. Aydemir

    2010-07-01

    Full Text Available This group of diseases are characterised with the aggravated types of stress releasing behaviors like scratching, picking, squeezing, and sucking. Lichen simplex chronicus, prurigo nodularis, neurotic excoriations, trichotillomani, and onychotillomani are the diseases in this group. Depression, anxiety, and obsesif compulsive disease are the main underlying psychologic diseases. They need a skillfull psychiatric approach in addition to dermatologic treatment, and should be treated with patience in a long duration.

  4. Functional bowel disease

    DEFF Research Database (Denmark)

    Rumessen, J J; Gudmand-Høyer, E

    1988-01-01

    Twenty-five patients with functional bowel disease were given fructose, sorbitol, fructose-sorbitol mixtures, and sucrose. The occurrence of malabsorption was evaluated by means of hydrogen breath tests and the gastrointestinal symptoms, if any, were recorded. One patient could not be evaluated...... with functional bowel disease. The findings may have direct influence on the dietary guidance given to a major group of patients with functional bowel disease and may make it possible to define separate entities in this disease complex....

  5. Genetics of complex diseases.

    Science.gov (United States)

    Motulsky, Arno G

    2006-02-01

    Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.

  6. Spinal Cord Diseases

    Science.gov (United States)

    ... damages the vertebrae or other parts of the spine, this can also injure the spinal cord. Other spinal cord problems include Tumors Infections such as meningitis and polio Inflammatory diseases Autoimmune diseases Degenerative diseases such as amyotrophic lateral sclerosis and spinal ...

  7. Kawasaki Disease (For Parents)

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Kawasaki Disease KidsHealth > For Parents > Kawasaki Disease Print A A A What's in this ... Complications Diagnosis Treatment en español La enfermedad de Kawasaki Kawasaki disease is an illness that involves the ...

  8. What Is Crohn's Disease?

    Science.gov (United States)

    ... What are Crohn's & Colitis? > What is Crohn’s Disease? Crohn’s Disease is a Chronic Condition By understanding your body ... live a full and rewarding life What is Crohn’s Disease? Email Print + Share Named after Dr. Burrill B. ...

  9. Lung Diseases and Conditions

    Science.gov (United States)

    ... Share this page from the NHLBI on Twitter. Lung Diseases and Conditions Breathing is a complex process. If ... to a disease called COPD (chronic obstructive pulmonary disease). COPD prevents proper airflow in and out of your lungs and can hinder gas exchange in the air ...

  10. Bacterial diseases affecting apple

    Science.gov (United States)

    Bacterial diseases of plants are usually difficult to control and often require a combination of control measures to successfully manage the disease. There are often stark differences between the means available to control bacterial diseases in annual crops versus a woody tree crop, such as apple. ...

  11. Pompe disease: clinical perspectives

    Directory of Open Access Journals (Sweden)

    Cabello JF

    2016-12-01

    Full Text Available Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and Food Technology Institute (INTA, University of Chile, Santiago, Chile; 2Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA Abstract: Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300 is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease. A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease. The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred. Keywords: Pompe disease, glycogen storage disease, lysosomal storage disease, enzyme replacement therapy, gene therapy, chaperone therapy, genotype/phenotype, newborn screening

  12. Venereal Disease Education.

    Science.gov (United States)

    Lama, Jerry

    This speech on venereal disease education uses as its focus this quotation from George Santayana, "Those who cannot remember the past are doomed to repeat it." The author presents a brief history of venereal disease education and statistics on the present rate of venereal disease. He concludes that past research and experience indicate that…

  13. Research Areas: Liver Disease

    Science.gov (United States)

    ... and C, or by genetic mutations. Other liver diseases can be triggered by autoimmune reactions or drug toxicity. The rise in obesity in the United States has led to a rise in nonalcoholic fatty liver disease. Many liver diseases place individuals at higher risk ...

  14. Heart Disease in Women

    Science.gov (United States)

    ... United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing or ... It's the major reason people have heart attacks. Heart diseases that affect women more than men include Coronary ...

  15. Living with Heart Disease

    Science.gov (United States)

    ... page from the NHLBI on Twitter. Living With Heart Disease If you have coronary heart disease (CHD), you can take steps to control its ... the section of this article titled "How Is Heart Disease Treated?" You also can visit the Health Topics ...

  16. Huntington's disease phenocopy syndromes.

    Science.gov (United States)

    Wild, Edward J; Tabrizi, Sarah J

    2007-12-01

    Patients presenting with features of Huntington's disease but lacking the causative genetic expansion can be challenging diagnostically. The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed. Cohort studies have established the relative frequencies of known Huntington's disease phenocopy syndromes, whereas newly described ones have been characterized genetically, clinically, radiologically and pathologically. About 1% of suspected Huntington's disease cases emerge as phenocopy syndromes. Such syndromes are clinically important in their own right but may also shed light on the pathogenesis of Huntington's disease. Huntington's disease produces a range of clinical phenotypes, and the range of syndromes that may be responsible for Huntington's disease phenocopies is correspondingly wide. Cohort studies have established that, while the majority of phenocopy patients remain undiagnosed, in those patients where a genetic diagnosis is reached the commonest causes are SCA17, Huntington's disease-like syndrome 2 (HDL2), familial prion disease and Friedreich's ataxia. We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, chorea-acanthocytosis and iron-accumulation disorders. We present an evidence-based framework for the genetic testing of Huntington's disease phenocopy cases.

  17. Epilepsy is a disease!

    Directory of Open Access Journals (Sweden)

    Walter Oleschko Arruda

    1994-12-01

    Full Text Available According to the definition of disease, epilepsy shall not be considered neither a symptom nor a syndrome. Epilepsy is a generic term for a group of diseases characterized by seizures. It implies a state quite distinct from health. Therefore it seems worthy to keep epilepsy as such in the International Classification of Diseases (ICD.

  18. Acid Lipase Disease

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Acid Lipase Disease Information Page Acid Lipase Disease Information Page What research is being ... research to understand lipid storage diseases such as acid lipase deficiency. Additional research studies hope to identify ...

  19. Glycation in Parkinson's disease and Alzheimer's disease.

    Science.gov (United States)

    Vicente Miranda, Hugo; El-Agnaf, Omar M A; Outeiro, Tiago Fleming

    2016-06-01

    Glycation is a spontaneous age-dependent posttranslational modification that can impact the structure and function of several proteins. Interestingly, glycation can be detected at the periphery of Lewy bodies in the brain in Parkinson's disease. Moreover, α-synuclein can be glycated, at least under experimental conditions. In Alzheimer's disease, glycation of amyloid β peptide exacerbates its toxicity and contributes to neurodegeneration. Recent studies establish diabetes mellitus as a risk factor for several neurodegenerative disorders, including Parkinson's and Alzheimer's diseases. However, the mechanisms underlying this connection remain unclear. We hypothesize that hyperglycemia might play an important role in the development of these disorders, possibly by also inducing protein glycation and thereby dysfunction, aggregation, and deposition. Here, we explore protein glycation as a common player in Parkinson's and Alzheimer's diseases and propose it may constitute a novel target for the development of strategies for neuroprotective therapeutic interventions. © 2016 International Parkinson and Movement Disorder Society.

  20. Rapidly progressive Alzheimer disease.

    Science.gov (United States)

    Schmidt, Christian; Wolff, Martin; Weitz, Michael; Bartlau, Thomas; Korth, Carsten; Zerr, Inga

    2011-09-01

    Different rates of progression have been observed among patients with Alzheimer disease. Risk factors that accelerate deterioration have been identified and some are being discussed, such as genetics, comorbidity, and the early appearance of Alzheimer disease motor signs. Progressive forms of Alzheimer disease have been reported with rapid cognitive decline and disease duration of only a few years. This short review aims to provide an overview of the current knowledge of rapidly progressive Alzheimer disease. Furthermore, we suggest that rapid, in this context, should be defined as a Mini-Mental State Examination score decrease of 6 points per year.

  1. Meditation and neurodegenerative diseases.

    Science.gov (United States)

    Newberg, Andrew B; Serruya, Mijail; Wintering, Nancy; Moss, Aleezé Sattar; Reibel, Diane; Monti, Daniel A

    2014-01-01

    Neurodegenerative diseases pose a significant problem for the healthcare system, doctors, and patients. With an aging population, more and more individuals are developing neurodegenerative diseases and there are few treatment options at the present time. Meditation techniques present an interesting potential adjuvant treatment for patients with neurodegenerative diseases and have the advantage of being inexpensive, and easy to teach and perform. There is increasing research evidence to support the application of meditation techniques to help improve cognition and memory in patients with neurodegenerative diseases. This review discusses the current data on meditation, memory, and attention, and the potential applications of meditation techniques in patients with neurodegenerative diseases.

  2. Human Environmental Disease Network

    DEFF Research Database (Denmark)

    Taboureau, Olivier; Audouze, Karine

    2017-01-01

    During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied...... by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information...

  3. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  4. Radiotherapy of benign diseases

    Energy Technology Data Exchange (ETDEWEB)

    Haase, W.

    1982-10-11

    Still today radiotherapy is of decisive relevance for several benign diseases. The following ones are briefly described in this introductory article: 1. Certain inflammatory and degenerative diseases as furuncles in the face, acute thrombophlebitis, recurrent pseudoriparous abscesses, degenerative skeletal diseases, cervical syndrome and others; 2. rheumatic joint diseases; 3. Bechterew's disease; 4. primary presenile osteoporosis; 5. syringomyelia; 6. endocrine ophthalmopathy; 7. hypertrophic processes of the connective tissue; 8. hemangiomas. A detailed discussion and a profit-risk analysis is provided in the individual chapters of the magazine.

  5. Parkinson's disease and osteoporosis.

    Science.gov (United States)

    Vaserman, Nathalie

    2005-12-01

    Parkinson's disease is associated with an increased risk of falls. The risk is greatest in patients with advanced disease. Because Parkinson's disease usually occurs late in life, the risk factors related to the neurological impairments add to those associated with aging. The incidence of fractures is high in patients with Parkinson's disease, with femoral neck fractures in older women being particularly common. Risk factors for fractures include a low body mass index, limited exposure to sunlight, an inadequate vitamin D intake with low 25-OH vitamin D levels, and bone loss. Several studies found decreased bone mineral density values at the femoral neck and lumbar spine in patients with Parkinson's disease. Although this decrease is ascribable in part to factors unrelated with Parkinson's disease, such as older age and female gender, Parkinson's disease itself also plays a role, most notably in patients with severe neurological impairments (Hoehn and Yahr stages III and IV).

  6. [Coeliac disease and dentistry].

    Science.gov (United States)

    van Gils, T; de Boer, N K H; Bouma, G

    2015-09-01

    Coeliac disease is a chronic autoimmune enteropathy, which is caused by exposure to dietary gluten in genetically pre-disposed individuals. -Approximately 0.5-1% of the Dutch population has coeliac disease, diag-nosed at both younger and older age. Treatment consists of a strict gluten-free diet. Symptoms can be diverse, including dental and oral manifestations. These dental and oral manifestations are often seen in patients with coeliac disease, although most of them are nonspecific. This is not the case for the symmetric enamel defects described by Aine and colleagues, which are very specific for coeliac disease. Early diagnosing of coeliac disease is important to prevent complications by (vitamin) deficiencies or rare (pre) malignant forms of coeliac disease. There seems to be a role for dentists in early diagnosing of coeliac disease.

  7. Pregnancy and rheumatic diseases.

    Science.gov (United States)

    Gayed, M; Gordon, C

    2007-11-01

    Pregnancy is an issue that should be discussed with all patients with rheumatic diseases who are in the reproductive age group. Infertility is rarely due to the disease but can be associated with cyclophosphamide therapy. Most rheumatic diseases that are well controlled prior to pregnancy do not deteriorate in pregnancy, providing that the patient continues with appropriate disease-modifying therapy. Some patients with inflammatory arthritis go in to remission during pregnancy. Patients with renal involvement may be at increased risk of disease flare. This needs to be distinguished from pre-eclampsia. Intrauterine growth restriction is more likely in patients with active systemic disease, hypertension, a history of thrombosis and renal involvement. Premature delivery may need to be planned to reduce the risks of stillbirth and can be associated with a variety of neonatal complications. Post-partum flare is common in all the rheumatic diseases.

  8. Legionella (Legionnaires' Disease and Pontiac Fever): History and Disease Patterns

    Science.gov (United States)

    ... Legionnaires’ Disease Surveillance Network (ELDSNet) History and Disease Patterns Language: English (US) Español (Spanish) Recommend on ... that the same bacterium causes both diseases. Disease Patterns Illness caused by Legionella continues to be detected, ...

  9. [The Idiopathic Parkinson's disease: A metabolic disease?].

    Science.gov (United States)

    Rieu, I; Boirie, Y; Morio, B; Derost, P; Ulla, M; Marques, A; Debilly, B; Bannier, S; Durif, F

    2010-10-01

    Parkinson's disease is a neurodegenerative disorder clinically characterized by motor impairments (tremor, bradykinesia, rigidity and postural instability) associated or not with non-motor complications (cognitive disorders, dysautonomia). Most of patients loose weight during evolution of their disease. Dysregulations of hypothalamus, which is considered as the regulatory center of satiety and energy metabolism, could play a major role in this phenomenon. Deep brain stimulation of the subthalamic nucleus (NST) is an effective method to treat patients with advanced Parkinson's disease providing marked improvement of motor impairments. This chirurgical procedure also induces a rapid and strong body weight gain and sometimes obesity. This post-operative weight gain, which exceeds largely weight lost recorded in non-operated patient, could be responsible of metabolic disorders (such as diabetes) and cardiovascular diseases. This review describes body weight variations generated by Parkinson' disease and deep brain stimulation of the NST, and focuses on metabolic disorders capable to explain them. Finally, this review emphasizes on the importance of an adequate nutritional follow up care for parkinsonian patient.

  10. Advances in coeliac disease.

    Science.gov (United States)

    Lundin, Knut E A; Sollid, Ludvig M

    2014-03-01

    To summarize the recent advances in coeliac disease. Details of the polygenic nature of coeliac disease with the human leukocyte antigen (HLA) locus as the dominating genetic element have been uncovered. The existence of a large number of non-HLA coeliac disease genes, only partly shared by each individual patient, suggests the genetic heterogeneity of the disease. The critical role for HLA-DQ-restricted CD4 T cells recognizing antigenic gluten peptides is further substantiated. Involvement of CD8 T cells has received new attention. Other components of wheat than gluten, in particular the amylase trypsin inhibitors, may also play a role. The disease is becoming more prevalent. New guidelines state that coeliac disease diagnosis in children can be made on the basis of clinical signs, serology and genetics without the need of biopsy. The clinical entity 'noncoeliac gluten sensitivity' has received much attention, but diagnostic and pathophysiological definitions are still elusive. The risk for mortality and morbidity in coeliac disease is less than previously thought. Our understanding of the basic and clinical aspects of coeliac disease increases. Coeliac disease stands out as a major health problem of almost global occurrence. Case finding, distinguishing coeliac disease from other gluten-sensitive conditions, better care and balanced use of resources are the current challenges.

  11. Multiple cystic lung disease

    Directory of Open Access Journals (Sweden)

    Flavia Angélica Ferreira Francisco

    2015-12-01

    Full Text Available Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt–Hogg–Dubé; other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.

  12. Genetics of Proteasome Diseases

    Directory of Open Access Journals (Sweden)

    Aldrin V. Gomes

    2013-01-01

    Full Text Available The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

  13. Coeliac disease and epilepsy.

    LENUS (Irish Health Repository)

    Cronin, C C

    2012-02-03

    Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.

  14. Celiac disease and gluten-associated diseases.

    Science.gov (United States)

    Helms, Steve

    2005-09-01

    Celiac disease develops from an autoimmune response to specific dietary grains that contain gluten. Diagnosis can be made based on the classical presentation of diarrhea, fatty stools, and abdominal bloating and cramping, as well as the presence of specific serum antibodies. In addition, gluten ingestion has increasingly been found to be associated with other conditions not usually correlated with gluten intolerance. The subsequent diversity of the clinical presentation in these cases can complicate decision-making and delay treatment initiation in conditions such as ataxia, headaches, arthritis, neuropathy, type 1 diabetes mellitus, and others. This review explores the etiology and pathology of celiac disease, presents support for the relationship between gluten and other diseases, and provides effective screening and treatment protocols.

  15. Diagnosis of Pompe disease

    DEFF Research Database (Denmark)

    Vissing, John; Lukacs, Zoltan; Straub, Volker

    2013-01-01

    of the methods used in the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagnostic tool in the evaluation of muscle disease. However, experience has shown that relying solely on visualizing a periodic acid-Schiff-positive vacuolar myopathy...... will improve patient outcomes as care standards including enzyme replacement therapy can be applied and complications can be anticipated. Increased awareness of the clinical phenotype of Pompe disease is therefore warranted to expedite diagnostic screening for this condition with blood-based enzymatic assays.......The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates some...

  16. Viral Disease Networks?

    Science.gov (United States)

    Gulbahce, Natali; Yan, Han; Vidal, Marc; Barabasi, Albert-Laszlo

    2010-03-01

    Viral infections induce multiple perturbations that spread along the links of the biological networks of the host cells. Understanding the impact of these cascading perturbations requires an exhaustive knowledge of the cellular machinery as well as a systems biology approach that reveals how individual components of the cellular system function together. Here we describe an integrative method that provides a new approach to studying virus-human interactions and its correlations with diseases. Our method involves the combined utilization of protein - protein interactions, protein -- DNA interactions, metabolomics and gene - disease associations to build a ``viraldiseasome''. By solely using high-throughput data, we map well-known viral associated diseases and predict new candidate viral diseases. We use microarray data of virus-infected tissues and patient medical history data to further test the implications of the viral diseasome. We apply this method to Epstein-Barr virus and Human Papillomavirus and shed light into molecular development of viral diseases and disease pathways.

  17. Spectrum of cardiorenal disease

    Institute of Scientific and Technical Information of China (English)

    Peter A. McCullough

    2005-01-01

    @@ Cardiorenal disease The modern day,worldwide epidemics of obesity and hypertension (HTN) are central drivers of a secondary epidemic of type 2 diabetes with combined chronic kidney disease (CKD)and cardiovascular disease (CVD).1 Approximately half of those with diabetes will develop CKD.2 Conversely,half of all cases of end-stage renal disease (ESRD) are due to diabetic nephropathy.With the aging of the general population and cardiovascular care shifting towards the elderly,an understanding of why decreasing levels of renal function act as a major adverse prognostic factor after a variety of cardiac events is imperative.The heart and kidney are inextricably linked via hemodynamic and neurohumoral function (Fig.1).Considerable evidence shows that CKD accelerates atherosclerosis,myocardial disease,valvular disease,and promotes an array of cardiac arrhythmias.3

  18. Dynamics of interacting diseases

    CERN Document Server

    Sanz, Joaquín; Meloni, Sandro; Moreno, Yamir

    2014-01-01

    Current modeling of infectious diseases allows for the study of complex and realistic scenarios that go from the population to the individual level of description. Most epidemic models however assume that the spreading process takes place on a single level (be it a single population, a meta-population system or a network of contacts). The latter is in part a consequence of our still limited knowledge about the interdependency of the many mechanisms and factors involved in disease spreading. In particular, interdependent contagion phenomena can only be addressed if we go beyond the scheme one pathogen-one network. In this paper, we study a model that allows describing the spreading dynamics of two concurrent diseases and apply it to a paradigmatic case of disease-disease interaction: the interaction between AIDS and Tuberculosis. Specifically, we characterize analytically the epidemic thresholds of the two diseases for different scenarios and also compute the temporal evolution characterizing the unfolding dyn...

  19. [Physical diseases in alcoholism].

    Science.gov (United States)

    Takase, Kojiro

    2015-09-01

    Rapid excessive alcohol drinking frequently causes disturbance of consciousness due to head trauma, brain edema, hypoglycemia, hyponatremia, hepatic coma and so on, provoked by acute alcohol intoxication. Rapid differential diagnosis and management are extremely important to save a life. On the other hands, the chronic users of alcohol so called alcoholism has many kinds of physical diseases such as liver diseases (i.e., fatty liver, alcoholic hepatitis, alcoholic liver cirrhosis and miscellaneous liver disease), diabetes mellitus, injury to happen in drunkenness, pancreas disease (i.e., acute and chronic pancreatitis and deterioration of chronic pancreatitis), gastrontestinal diseases (i.e., gastroduodenal ulcer), and so on. Enough attention should be paid to above mentioned diseases, otherwise they would turn worse more with continuation and increase in quantity of the alcohol. It should be born in its mind that the excessive drinking becomes the weapon threatening life.

  20. Genetics of Parkinson disease.

    Science.gov (United States)

    Pankratz, Nathan; Foroud, Tatiana

    2007-12-01

    During the past decade five genes have been identified that are important in autosomal dominant and autosomal recessive forms of Parkinson disease. The identification of these genes has increased our understanding of the likely pathogenic mechanisms resulting in disease. However, mutations in these genes likely contribute to disease in fewer than 5% of all cases of Parkinson disease. Thus, researchers have continued to search for genes that may influence disease susceptibility. Molecular diagnostic testing is currently available for four of the genes mutated in Parkinson disease. Evidence for reduced penetrance, possible effects of haploinsufficiency, and the identification of nondisease causing polymorphisms within several of these genes has made genetic counseling challenging. Current recommendations are to limit molecular testing only to those individuals who are symptomatic. Furthermore, because treatment is unaltered by the presence or absence of mutations in these genes, restraint is recommended when considering the value of screening for mutations in a clinical setting.

  1. Update on Parkinson disease.

    Science.gov (United States)

    Siderowf, Andrew; Stern, Matthew

    2003-04-15

    This Update reviews developments in the pathophysiology and treatment of Parkinson disease during the past several years. In the area of pathophysiology, studies have addressed the contribution of environmental factors such as caffeine and pesticides. Large-scale epidemiologic studies have also expanded the role genetic factors are thought to play. Detailed studies of kindreds with familial Parkinson disease due to alpha-synuclein and parkin have catalyzed basic science investigations into the pathologic mechanisms of the disease. These studies have led to the development of a pathophysiologic model of Parkinson disease that emphasizes abnormal protein aggregation. Studies of treatment have clarified the relative roles of l-dopa and dopamine agonists in early Parkinson disease and shown the potential for surgical interventions, particularly deep-brain stimulation, to relieve the symptoms of advanced, medically refractory disease.

  2. Parkinson's disease and genetics.

    Science.gov (United States)

    Lester, Jacobo; Otero-Siliceo, Enrique

    2006-09-01

    Idiopathic Parkinson disease (IPD) is a condition of unknown cause. Several factors are believed to contribute to its onset, and many studies have been conducted in search of the possible etiology of Parkinson disease. Genetic factors have become relevant when trying to explain the onset of Parkinson disease. The studies are divided into 2 categories: epidemiological and studies that analyze twins from families with members suffering from Parkinson disease, thus looking for the responsible genetic mutations. In this article we address this controversial topic, reviewing some of the most significant studies trying to provide evidence which relates genetics to Parkinson disease. We present current epidemiological studies and the most important genetic factors related to Parkinson disease, including the latest information currently available on each issue.

  3. Castleman disease (literature review

    Directory of Open Access Journals (Sweden)

    A. L. Melikyan

    2016-01-01

    Full Text Available Castleman disease (angiofollicular hyperplasia of lymph nodes – a rare benign lymphoproliferative disease with prolonged asymptomatic course, associated with a wide variety of autoimmune and oncological diseases and the risk of non-Hodgkin’s lymphoma. The rare occurrence of this disease and a variety of clinical course did not allow for a complete and consistent research on the etiology and pathogenesis and the standard therapies development. In recent years, the number of patients with Castleman disease in the Russian Federation has increased, which requires its recognition among non-neoplastic and neoplastic lymphadenopathy. The article provides an overview about clinical and histological variants of Castleman’s disease, its pathogenesis concepts, classification and treatment.

  4. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  5. Genetics Home Reference: Ollier disease

    Science.gov (United States)

    ... Information & Resources MedlinePlus (1 link) Health Topic: Bone Diseases Genetic and Rare Diseases Information Center (1 link) Ollier disease Educational Resources (5 links) Atlas of Genetics and Cytogenetics in Oncology and Haematology Disease InfoSearch: ...

  6. Disease: H00921 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available terion to establish the diagnosis. Congenital disorder; Eye disease; Hematologic disease; Skin and connective tissue disea...se; Nervous system disease TINF2 [HSA:26277] [KO:K11112] Dyskeratos

  7. Genetics Home Reference: Alzheimer disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Alzheimer disease Alzheimer disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Alzheimer disease is a degenerative disease of the brain ...

  8. Congenital Heart Disease in Adults

    Science.gov (United States)

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  9. Illegal Drugs and Heart Disease

    Science.gov (United States)

    ... Venous Thromboembolism Aortic Aneurysm More Illegal Drugs and Heart Disease Updated:May 17,2017 Most illegal drugs can ... www.dea.gov/druginfo/factsheets.shtml Alcohol and Heart Disease Caffeine and Heart Disease Tobacco and Heart Disease ...

  10. Bladder Control and Nerve Disease

    Science.gov (United States)

    ... procedure at regular intervals, a practice called clean intermittent catheterization. Some patients cannot place their own catheters ... Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de ...

  11. [Rheumatic diseases in pregnancy].

    Science.gov (United States)

    Märker-Hermann, E; Bauer, H; Gromnica-Ihle, E

    2008-11-01

    Rheumatic diseases can influence the reproduction, the course of pregnancy and the development of the fetus. The inflammatory rheumatic disease itself can be modulated in its activity in terms of amelioration or exacerbation of the rheumatic symptoms. The associations between rheumatic diseases and pregnancy will be illustrated with rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, and systemic lupus erythematosus as examples. Antirheumatic drug therapy during pregnancy and the breast feeding period has to be adapted critically.

  12. Disease Management Update

    OpenAIRE

    2007-01-01

    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up to date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting servicePharmacoeconomics & Outcomes News. The following reports are selected from the very latest ...

  13. Disease Management Update

    OpenAIRE

    2008-01-01

    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up to date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News. The following reports are selected from the very latest...

  14. Disease Management Update

    OpenAIRE

    2007-01-01

    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up to date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News. The following reports are selected from the very latest...

  15. Disease Management Update

    OpenAIRE

    2006-01-01

    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost effective quality healthcare for individuals and populations. To help you keep up-to-date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News . The following reports are selected from the very lates...

  16. Disease Management Update

    OpenAIRE

    2003-01-01

    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up-to-date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service PharmacoEconomics & Outcomes News Weekly. The following reports are selected from the very...

  17. Disease Management Update

    OpenAIRE

    2006-01-01

    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up-to-date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News Weekly . The following reports are selected from the ver...

  18. Wetlands and infectious diseases

    OpenAIRE

    Robert H. Zimmerman

    2001-01-01

    There is a historical association between wetlands and infectious disease that has led to the modification of wetlands to prevent disease. At the same time there has been the development of water resources projects that increase the risk of disease. The demand for more water development projects and the increased pressure to make natural wetlands economically beneficial creates the need for an ecological approach to wetland management and health assessment. The environmental and health intera...

  19. NAFLD: A multisystem disease

    OpenAIRE

    Byrne, Christopher D.; Targher, Giovanni

    2015-01-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in Western countries that is predicted to become also the most frequent indication for liver transplantation by 2030. Over the last decade, it has been shown that the clinical burden of NAFLD is not only confined to liver-related morbidity and mortality, but there is now growing evidence that NAFLD is a multisystem disease, affecting extra-hepatic organs and regulatory pathways. For example, NAFLD incr...

  20. CDC Disease Detective Camp

    Centers for Disease Control (CDC) Podcasts

    2010-08-02

    The CDC Disease Detective Camp gives rising high school juniors and seniors exposure to key aspects of the CDC, including basic epidemiology, infectious and chronic disease tracking, public health law, and outbreak investigations. The camp also helps students explore careers in public health.  Created: 8/2/2010 by Centers for Disease Control and Prevention (CDC).   Date Released: 8/2/2010.

  1. [Crohn's disease surgery].

    Science.gov (United States)

    Kala, Zdeněk; Marek, Filip; Válek, Vlastimil A; Bartušek, Daniel

    2014-01-01

    Surgery of Crohns disease is an important part of the general treatment algorithm. The role of surgery is changing with the development of conservative procedures. The recent years have seen the return to early treatment of patients with Crohns disease. Given the character of the disease and its intestinal symptoms, a specific approach to these patients is necessary, especially regarding the correct choice of surgery. The paper focuses on the luminal damage of the small and large intestine including complications of the disease. We describe the individual indications for a surgical solution, including the choice of anastomosis or multiple / repeated surgeries.

  2. History of Kawasaki disease.

    Science.gov (United States)

    Kawasaki, Tomisaku; Naoe, Shiro

    2014-04-01

    We describe a short history of Kawasaki disease. In 1967, we published a paper entitled 'Infantile acute febrile mucocutaneous lymph node syndrome with specific desquamation of the fingers and toes. Clinical observation of 50 cases'; this was the first report on what is now called Kawasaki disease. Since then, many reports on cardiology, treatment, epidemiology, pathology and etiology of Kawasaki disease have been published. Furthermore, a recent Chapel Hill Consensus Statement on Kawasaki disease in the classification of vasculitis is given, along with a figure on the relationship and classification of childhood vasculitis by autopsy material.

  3. Disease drivers of aging.

    Science.gov (United States)

    Hodes, Richard J; Sierra, Felipe; Austad, Steven N; Epel, Elissa; Neigh, Gretchen N; Erlandson, Kristine M; Schafer, Marissa J; LeBrasseur, Nathan K; Wiley, Christopher; Campisi, Judith; Sehl, Mary E; Scalia, Rosario; Eguchi, Satoru; Kasinath, Balakuntalam S; Halter, Jeffrey B; Cohen, Harvey Jay; Demark-Wahnefried, Wendy; Ahles, Tim A; Barzilai, Nir; Hurria, Arti; Hunt, Peter W

    2016-12-01

    It has long been known that aging, at both the cellular and organismal levels, contributes to the development and progression of the pathology of many chronic diseases. However, much less research has examined the inverse relationship-the contribution of chronic diseases and their treatments to the progression of aging-related phenotypes. Here, we discuss the impact of three chronic diseases (cancer, HIV/AIDS, and diabetes) and their treatments on aging, putative mechanisms by which these effects are mediated, and the open questions and future research directions required to understand the relationships between these diseases and aging. © 2016 New York Academy of Sciences.

  4. Pregnancy and Rheumatic Disease

    Science.gov (United States)

    ... diseases vary by condition. Rheumatoid arthritis (RA) , systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) typically are modified by pregnancy. For example, RA symptoms often improve in pregnant ...

  5. [Rheumatic diseases during pregnancy].

    Science.gov (United States)

    Fischer-Betz, R

    2012-09-01

    The treatment of inflammatory rheumatic diseases, such as rheumatoid arthritis, spondylitis ankylosans and systemic lupus erythematosus, is improving continuously. This has lead to an increasing number of young patients with a wish to have children. Greater insight into the course of rheumatic diseases during pregnancy and post partum has enabled optimized support for women with rheumatic diseases wishing to have children. To ensure a favorable outcome, pregnancy should be started during a period of disease stability and should be monitored closely. A careful assessment of possible risks and the justified use of antirheumatic drugs before, during and after pregnancy are key issues for success.

  6. Emerging zoonotic viral diseases.

    Science.gov (United States)

    Wang, L-F; Crameri, G

    2014-08-01

    Zoonotic diseases are infectious diseases that are naturally transmitted from vertebrate animals to humans and vice versa. They are caused by all types of pathogenic agents, including bacteria, parasites, fungi, viruses and prions. Although they have been recognised for many centuries, their impact on public health has increased in the last few decades due to a combination of the success in reducing the spread of human infectious diseases through vaccination and effective therapies and the emergence of novel zoonotic diseases. It is being increasingly recognised that a One Health approach at the human-animal-ecosystem interface is needed for effective investigation, prevention and control of any emerging zoonotic disease. Here, the authors will review the drivers for emergence, highlight some of the high-impact emerging zoonotic diseases of the last two decades and provide examples of novel One Health approaches for disease investigation, prevention and control. Although this review focuses on emerging zoonotic viral diseases, the authors consider that the discussions presented in this paper will be equally applicable to emerging zoonotic diseases of other pathogen types.

  7. Interstitial lung disease

    Science.gov (United States)

    Diffuse parenchymal lung disease; Alveolitis; Idiopathic pulmonary pneumonitis (IPP) ... The lungs contain tiny air sacs (alveoli), which is where oxygen is absorbed. These air sacs expand with each ...

  8. Ageing and neurodegenerative diseases.

    Science.gov (United States)

    Hung, Chia-Wei; Chen, Yu-Chih; Hsieh, Wan-Ling; Chiou, Shih-Hwa; Kao, Chung-Lan

    2010-11-01

    Ageing, which all creatures must encounter, is a challenge to every living organism. In the human body, it is estimated that cell division and metabolism occurs exuberantly until about 25 years of age. Beyond this age, subsidiary products of metabolism and cell damage accumulate, and the phenotypes of ageing appear, causing disease formation. Among these age-related diseases, neurodegenerative diseases have drawn a lot of attention due to their irreversibility, lack of effective treatment, and accompanied social and economical burdens. In seeking to ameliorate ageing and age-related diseases, the search for anti-ageing drugs has been of much interest. Numerous studies have shown that the plant polyphenol, resveratrol (3,5,4'-trihydroxystilbene), extends the lifespan of several species, prevents age-related diseases, and possesses anti-inflammatory, and anti-cancer properties. The beneficial effects of resveratrol are believed to be associated with the activation of a longevity gene, SirT1. In this review, we discuss the pathogenesis of age-related neurodegenerative diseases including Alzheimer's disease, Parkinson's disease and cerebrovascular disease. The therapeutic potential of resveratrol, diet and the roles of stem cell therapy are discussed to provide a better understanding of the ageing mystery.

  9. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Anxiety & Psychosis OHSU - Therapeutic Approaches for PD: Depression, Anxiety & ... Parkinson's Disease? Are There Disorders That Have Similar Symptoms? What Are the Common ...

  10. Lyme disease and conservation

    Science.gov (United States)

    Ginsberg, H.

    1994-01-01

    Lyme disease is a tick-borne illness that is wide-spread in North America, especially in the northeastern and northcentral United States. This disease could negatively influence efforts to conserve natural populations in two ways: (1) the disease could directly affect wild animal health; and (2) tick control efforts could adversely affect natural populations and communities. Lyme disease affects several domestic animals, but symptoms have been reported in only a few wild species. Direct effects of Lyme disease on wild animal populations have not been reported, but the disease should be considered as a possible cause in cases of unexplained population declines in endemic areas. Methods available to manage ticks and Lyme disease include human self-protection techniques, manipulation of habitats and hosts species populations, biological control, and pesticide applications. The diversity of available techniques allows selection of approaches to minimize environmental effects by (1) emphasizing personal protection techniques, (2) carefully targeting management efforts to maximize efficiency, and (3) integrating environmentally benign techniques to improve management while avoiding broad-scale environmentally destructive approaches. The environmental effects of Lyme disease depend, to a large extent, on the methods chosen to minimize human exposure to infected ticks. Conservation biologists can help design tick management programs that effectively lower the incidence of human Lyme disease while simultaneously minimizing negative effects on natural populations.

  11. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic Approaches for PD: Depression, Anxiety & Psychosis Out of the Park for Parkinson's: ...

  12. Epigenetics in neonatal diseases

    Institute of Scientific and Technical Information of China (English)

    XU Xue-feng; DU Li-zhong

    2010-01-01

    Objective To review the role of epigenetic regulation in neonatal diseases and better understand Barker's "fetal origins of adult disease hypothesis".Data sources The data cited in this review were mainly obtained from the articles published in Medline/PubMed between January 1953 and December 2009.Study selection Articles associated with epigenetics and neonatal diseases were selected.Results There is a wealth of epidemiological evidence that lower birth weight is strongly correlated with an increased risk of adult diseases, such as type 2 diabetes mellitus, hypertension, and cardiovascular disease. This phenomenon of fetal origins of adult disease is strongly associated with fetal insults to epigenetic modifications of genes. A potential role of epigenetic modifications in congenital disorders, transient neonatal diabetes mellitus (TNDM), intrauterine growth retardation (IUGR), and persistent pulmonary hypertension of the newborn (PPHN) have been studied.Conclusions Acknowledgment of the role of these epigenetic modifications in neonatal diseases would be conducive to better understanding the pathogenesis of these diseases, and provide new insight for improved treatment and prevention of later adult diseases.

  13. Meditation and neurodegenerative diseases

    National Research Council Canada - National Science Library

    Newberg, Andrew B; Serruya, Mijail; Wintering, Nancy; Moss, Aleezé Sattar; Reibel, Diane; Monti, Daniel A

    2014-01-01

    .... Meditation techniques present an interesting potential adjuvant treatment for patients with neurodegenerative diseases and have the advantage of being inexpensive, and easy to teach and perform...

  14. Inhaled dust and disease

    Energy Technology Data Exchange (ETDEWEB)

    Holt, P.F.

    1987-01-01

    This book discusses the following: the respiratory system; respirable dust; the fate of inhaled dust; translocation and some general effects of inhaled dust; silicosis; experimental research on silica-related disease; natural fibrous silicates; asbestos dust levels and dust sources; asbestos-related diseases - asbestosis, lung cancer, mesothelioma and other diseases, cancers at sites other than lung and pleura; experimental research relating to asbestos-related diseases; asbestos hazard - mineral types and hazardous occupations, neighbourhood and domestic hazard; silicates other than asbestos-man-made mineral fibres, mineral silicates and cement; metals; coal mine dust, industrial carbon and arsenic; natural and synthetic organic substances; dusts that provoke allergic alveolitis; tobacco smoke.

  15. Neuroinflammation in Alzheimer's disease

    DEFF Research Database (Denmark)

    Heneka, Michael T; Carson, Monica J; Khoury, Joseph El

    2015-01-01

    Increasing evidence suggests that Alzheimer's disease pathogenesis is not restricted to the neuronal compartment, but includes strong interactions with immunological mechanisms in the brain. Misfolded and aggregated proteins bind to pattern recognition receptors on microglia and astroglia......, and trigger an innate immune response characterised by release of inflammatory mediators, which contribute to disease progression and severity. Genome-wide analysis suggests that several genes that increase the risk for sporadic Alzheimer's disease encode factors that regulate glial clearance of misfolded...... therapeutic or preventive strategies for Alzheimer's disease....

  16. Pneumococcal Disease Fast Facts

    Science.gov (United States)

    ... Streptococcus pneumoniae Transmission Clinical Features Risk Factors Diagnosis & Management Prevention For Laboratorians Drug Resistance Surveillance & Reporting Global Pneumococcal Disease and Vaccine Resources ...

  17. Immunologic lung disease

    Energy Technology Data Exchange (ETDEWEB)

    Harman, E.M.

    1985-07-01

    The term immunologic lung disease comprises a broad spectrum of disease. The authors have covered a few entities in which recent studies have been particularly helpful in elucidating pathophysiology though not in uncovering the inciting cause. Common to all of these entities is the problem of finding appropriate methods of defining disease activity and response to treatment. As exemplified by the improved outlook for Goodpasture's syndrome with elucidation of its underlying immunopathology, it is likely that better understanding of the immunologic basis of sarcoid and interstitial disease may be helpful in planning more effective treatment strategies. 44 references.

  18. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic Approaches for PD: Depression, Anxiety & Psychosis Out of the ...

  19. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic Approaches for PD: Depression, Anxiety & Psychosis Out of ...

  20. Alphabetical Index of Parasitic Diseases

    Science.gov (United States)

    ... Sickness (African trypanosomiasis) Alveolar Echinococcosis (Echinococcosis, Hydatid Disease) Amebiasis ( Entamoeba histolytica Infection) American Trypanosomiasis (Chagas Disease) Ancylostomiasis ( ...

  1. Falls in Parkinson's disease and Huntington's disease

    NARCIS (Netherlands)

    Grimbergen, Yvette Anna Maria

    2012-01-01

    Falls in Parkinson’s (PD) and Huntington’s disease (HD) are common. 50 % of moderately affected PD patients sustained two or more falls during a prospective follow-up of 6 months. During a 3 month period 40 % of HD patients reported one or more fall. Many falls resulted in minor injuries and 42 % of

  2. The neurological disease ontology.

    Science.gov (United States)

    Jensen, Mark; Cox, Alexander P; Chaudhry, Naveed; Ng, Marcus; Sule, Donat; Duncan, William; Ray, Patrick; Weinstock-Guttman, Bianca; Smith, Barry; Ruttenberg, Alan; Szigeti, Kinga; Diehl, Alexander D

    2013-12-06

    We are developing the Neurological Disease Ontology (ND) to provide a framework to enable representation of aspects of neurological diseases that are relevant to their treatment and study. ND is a representational tool that addresses the need for unambiguous annotation, storage, and retrieval of data associated with the treatment and study of neurological diseases. ND is being developed in compliance with the Open Biomedical Ontology Foundry principles and builds upon the paradigm established by the Ontology for General Medical Science (OGMS) for the representation of entities in the domain of disease and medical practice. Initial applications of ND will include the annotation and analysis of large data sets and patient records for Alzheimer's disease, multiple sclerosis, and stroke. ND is implemented in OWL 2 and currently has more than 450 terms that refer to and describe various aspects of neurological diseases. ND directly imports the development version of OGMS, which uses BFO 2. Term development in ND has primarily extended the OGMS terms 'disease', 'diagnosis', 'disease course', and 'disorder'. We have imported and utilize over 700 classes from related ontology efforts including the Foundational Model of Anatomy, Ontology for Biomedical Investigations, and Protein Ontology. ND terms are annotated with ontology metadata such as a label (term name), term editors, textual definition, definition source, curation status, and alternative terms (synonyms). Many terms have logical definitions in addition to these annotations. Current development has focused on the establishment of the upper-level structure of the ND hierarchy, as well as on the representation of Alzheimer's disease, multiple sclerosis, and stroke. The ontology is available as a version-controlled file at http://code.google.com/p/neurological-disease-ontology along with a discussion list and an issue tracker. ND seeks to provide a formal foundation for the representation of clinical and research data

  3. Respiratory Diseases of Poultry

    Science.gov (United States)

    A new Respiratory Diseases of Poultry CRIS will be established effective October 1, 2006. Initially, the disease agents to be studied will include Ornithobacterium rhinotracheale (ORT), Bordetella avium (BART) and Pasteurella multocida. The research will focus on development of more effective vacc...

  4. [Hypertension and renal disease

    DEFF Research Database (Denmark)

    Kamper, A.L.; Pedersen, E.B.; Strandgaard, S.

    2009-01-01

    hypertension. Mild degrees of chronic kidney disease (CKD) can be detected in around 10% of the population, and detection is important as CKD is an important risk factor for atherosclerotic cardiovascular disease. Conversely, heart failure may cause an impairment of renal function. In chronic progressive...

  5. Chronic Kidney Disease

    Science.gov (United States)

    ... of the feet and ankles Causes & Risk FactorsWhat causes CKD?The most common causes of CKD are high blood pressure, diabetes and heart disease. ... caused by CKD.How else is CKD treated?Chronic kidney disease can cause other problems. Talk with your doctor about how ...

  6. Plant Diseases & Chemicals

    OpenAIRE

    Thompson, Sherm

    2008-01-01

    This course discusses the use of chemicals for plant disease control. Specifically, pesticides that can be used both in commercial or home/yard sitautions. This course also teaches how to determine plant diseases that may have caused a plant to die.

  7. Eosinophils in Autoimmune Diseases

    Directory of Open Access Journals (Sweden)

    Daniela Čiháková

    2017-04-01

    Full Text Available Eosinophils are multifunctional granulocytes that contribute to initiation and modulation of inflammation. Their role in asthma and parasitic infections has long been recognized. Growing evidence now reveals a role for eosinophils in autoimmune diseases. In this review, we summarize the function of eosinophils in inflammatory bowel diseases, neuromyelitis optica, bullous pemphigoid, autoimmune myocarditis, primary biliary cirrhosis, eosinophilic granulomatosis with polyangiitis, and other autoimmune diseases. Clinical studies, eosinophil-targeted therapies, and experimental models have contributed to our understanding of the regulation and function of eosinophils in these diseases. By examining the role of eosinophils in autoimmune diseases of different organs, we can identify common pathogenic mechanisms. These include degranulation of cytotoxic granule proteins, induction of antibody-dependent cell-mediated cytotoxicity, release of proteases degrading extracellular matrix, immune modulation through cytokines, antigen presentation, and prothrombotic functions. The association of eosinophilic diseases with autoimmune diseases is also examined, showing a possible increase in autoimmune diseases in patients with eosinophilic esophagitis, hypereosinophilic syndrome, and non-allergic asthma. Finally, we summarize key future research needs.

  8. Paget’s disease

    Directory of Open Access Journals (Sweden)

    I. Bertoldi

    2014-07-01

    Full Text Available Paget’s disease of bone is the most common metabolic bone disease after osteoporosis and affects 2-4% of adults over 55 years of age. Its etiology is only partly understood and includes both genetic and environmental factors. The disease may be asymptomatic and can be uncovered incidentally on x-ray or in biochemical tests performed for another condition. It can also manifest itself with bone pain, deformity, fracture or other complications. Paget’s disease is diagnosed by x-rays and in general has very typical radiological features, but occasionally the clinical picture may be unusual and a differential diagnosis of sclerotic or lytic metastases needs to be considered. Plasma total alkaline phosphatase activity is the most clinically useful indicator of disease activity. It is elevated in most untreated patients, but may be within the normal range in patients with monostotic or limited disease. Bisphosphonate therapy is indicated for patients with symptoms and should also be considered in patients with disease sites that suggest a risk of complications, such as long bones, vertebrae or base of the skull. Orthopedic surgery in Paget’s disease patients includes almost exclusively the correction of fractures and arthroplasty.

  9. [Infectious diseases research].

    Science.gov (United States)

    Carratalà, Jordi; Alcamí, José; Cordero, Elisa; Miró, José M; Ramos, José Manuel

    2008-12-01

    There has been a significant increase in research activity into infectious diseases in Spain in the last few years. The Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) currently has ten study groups, with the cooperation of infectious diseases specialists and microbiologists from different centres, with significant research activity. The program of Redes Temáticas de Investigación Cooperativa en Salud (Special Topics Cooperative Health Research Networks) is an appropriate framework for the strategic coordination of research groups from the Spanish autonomous communities. The Spanish Network for Research in Infectious Diseases (REIPI) and the Network for Research in AIDS (RIS) integrate investigators in Infectious Diseases from multiple groups, which continuously perform important research projects. Research using different experimental models in infectious diseases, in numerous institutions, is an important activity in our country. The analysis of the recent scientific production in Infectious Diseases shows that Spain has a good position in the context of the European Union. The research activity in Infectious Diseases carried out in our country is a great opportunity for the training of specialists in this area of knowledge.

  10. Tick-Borne Diseases

    Science.gov (United States)

    ... Health Topics Tick-Borne Disease Hazards to Outdoor Workers Physical Hazards Heat Stress Cold Stress Sun Exposure Noise Biological Hazards Insects ... No Longer Available Lyme Disease Hazards to Outdoor Workers Physical Hazards Heat Stress Cold Stress Sun Exposure Noise Biological Hazards Insects ...

  11. Parkinson's Disease Glossary

    Science.gov (United States)

    ... rarer) forms of Parkinson's disease. See also: familial Parkinson's disease Stem cells Very immature cells with potential to differentiate into ... mutations in UCH-L1 may increase risk of Parkinson's onset. See also: protein handling , ... stem cells Undifferentiated cells taken from umbilical cord blood. These ...

  12. Oxysterols and Parkinson's disease

    DEFF Research Database (Denmark)

    Björkhem, Ingemar; Lövgren-Sandblom, Anita; Leoni, Valerio

    2013-01-01

    Oxysterols are important for cholesterol homeostasis in the brain and may be affected in neurodegenerative diseases. The levels of the brain-derived oxysterol 24S-hydroxycholesterol (24S-OH) have been reported to be markedly reduced in the circulation of patients with Parkinson's disease (PD) (Lee...

  13. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... How Does Depression Affect the Patient's Family and Social Network? How Does Parkinson's Disease Affect Memory? How Does Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's ... our Helpline: 1-800-4PD-INFO (473-4636) Staffed by nurses, social workers and therapists, our Helpline is here to ...

  14. AUTOINFLAMMATORY PUSTULAR NEUTROPHILIC DISEASES

    Science.gov (United States)

    Naik, Haley B.; Cowen, Edward W.

    2013-01-01

    SYNOPSIS The inflammatory pustular dermatoses constitute a spectrum of non-infectious conditions ranging from localized involvement to generalized disease with associated acute systemic inflammation and multi-organ involvement. Despite the variability in extent and severity of cutaneous presentation, each of these diseases is characterized by non-infectious neutrophilic intra-epidermal microabscesses. Many share systemic findings including fever, elevated inflammatory markers, inflammatory bowel disease and/or osteoarticular involvement, suggesting potential common pathogenic links (Figure 1). The recent discoveries of several genes responsible for heritable pustular diseases have revealed a distinct link between pustular skin disease and regulation of innate immunity. These genetic advances have led to a deeper exploration of common pathways in pustular skin disease and offer the potential for a new era of biologic therapy which targets these shared pathways. This chapter provides a new categorization of inflammatory pustular dermatoses in the context of recent genetic and biologic insights. We will discuss recently-described monogenic diseases with pustular phenotypes, including deficiency of IL-1 receptor antagonist (DIRA), deficiency of the IL-36 receptor antagonist (DITRA), CARD14-associated pustular psoriasis (CAMPS), and pyogenic arthritis, pyoderma gangrenosum, acne (PAPA). We will then discuss how these new genetic advancements may inform how we view previously described pustular diseases, including pustular psoriasis and its clinical variants, with a focus on historical classification by clinical phenotype. PMID:23827244

  15. Psoriasis, a Systemic Disease?

    Directory of Open Access Journals (Sweden)

    Nilgün Atakan

    2012-09-01

    Full Text Available Psoriasis is a chronic inflammatory disease which is characterized by plaques with shiny white desquamation on the skin. It affects 1 to 3% of different ethnic populations. The disease significantly lowers the quality of life for the patients as the lesions appear on visible regions such as the scalp, face and extremities causing pruritus and extensive use of topical agents with a poor rate of recovery and the disease has a recurrent course with frequent attacks. Psoriasis was previously assumed to be a cutaneous disease resulting from epidermal cell hyperproliferation for a long time. However, studies conducted on the etiopathogenesis of the disease revealed that psoriasis is a chronic autoinflammatory disease which is caused by immune system dysregulation. Recently, the frequent association of psoriasis with other autoinflammatory diseases, comorbidities and complications which indeed shorten life expectancy concluded that psoriasis is a systemic disease and created a major difference in its treatment and follow-up modalities. In this review, the comorbidities, which are shown to be related to systemic inflammation and which also share a common pathogenesis with psoriasis, will be discussed. (Turk J Dermatol 2012; 6: 119-22

  16. A rare tonsillar disease

    Directory of Open Access Journals (Sweden)

    Safavi Naiyni SA

    1997-07-01

    Full Text Available A 16 year old woman with Tangier disease in palatine tonsils is reported. She has recurrent sore throat. In physical examination the palatine tonsils are hypertrophied and has very yellowish points. The facial skin is yellowish but the skin of another areas of body is normal. After tonsillectomy the pathologist report Tangier disease in palatine tonsils

  17. Lesch-Nyhan Disease.

    Science.gov (United States)

    Barabas, Gabor, Ed.

    1993-01-01

    This special edition explores the serious genetic disorder, Lesch-Nyhan Disease (LND), which is characterized by severe dystonia, spasticity, speech impairment, renal disease, varying degrees of cognitive deficit, and, especially, compulsive self-injury. The information provided is based on experience at the Matheny School and Hospital (New…

  18. Liver disease in pregnancy

    Institute of Scientific and Technical Information of China (English)

    Noel M Lee; Carla W Brady

    2009-01-01

    Liver diseases in pregnancy may be categorized into liver disorders that occur only in the setting of pregnancy and liver diseases that occur coincidentally with pregnancy. Hyperemesis gravidarum, preeclampsia/eclampsia, syndrome of hemolysis, elevated liver tests and low platelets (HELLP), acute fatty liver of pregnancy, and intrahepatic cholestasis of pregnancy are pregnancy-specific disorders that may cause elevations in liver tests and hepatic dysfunction. Chronic liver diseases, including cholestatic liver disease, autoimmune hepatitis, Wilson disease, and viral hepatitis may also be seen in pregnancy. Management of liver disease in pregnancy requires collaboration between obstetricians and gastroenterologists/hepatologists. Treatment of pregnancy-specific liver disorders usually involves delivery of the fetus and supportive care, whereas management of chronic liver disease in pregnancy is directed toward optimizing control of the liver disorder. Cirrhosis in the setting of pregnancy is less commonly observed but offers unique challenges for patients and practitioners. This article reviews the epidemiology, pathophysiology, diagnosis, and management of liver diseases seen in pregnancy.

  19. Bistability in autoimmune diseases

    DEFF Research Database (Denmark)

    Rapin, Nicolas; Mosekilde, Erik; Lund, Ole

    2011-01-01

    Autoimmune diseases damage host tissue, which, in turn, may trigger a stronger immune response. Systems characterized by such positive feedback loops can display co-existing stable steady states. In a mathematical model of autoimmune disease, one steady state may correspond to the healthy state...

  20. Parkinson's Disease: Research

    Science.gov (United States)

    ... toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease. Parkinson's Disease Research No breakthroughs, but steady progress The ...

  1. Dysphagia in Huntington's disease

    NARCIS (Netherlands)

    Heemskerk-van den Berg, Willemien Antoinette

    2015-01-01

    Huntington’s disease (HD) is a progressive neurodegenerative disease with an autosomal, dominant mode of inheritance. Patients with HD suffer from dysphagia which can have serious consequences, such as weight loss, dehydration, and pneumonia leading to death. Many patients with HD die of aspiration

  2. Dysphagia in Huntington's disease

    NARCIS (Netherlands)

    Heemskerk-van den Berg, Willemien Antoinette

    2015-01-01

    Huntington’s disease (HD) is a progressive neurodegenerative disease with an autosomal, dominant mode of inheritance. Patients with HD suffer from dysphagia which can have serious consequences, such as weight loss, dehydration, and pneumonia leading to death. Many patients with HD die of aspiration

  3. Heart Disease and Stroke

    Centers for Disease Control (CDC) Podcasts

    2013-09-03

    In this podcast, Dr. Tom Frieden, CDC Director, discusses the number one killer in the United States - heart disease and stroke.  Created: 9/3/2013 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 3/6/2014.

  4. Bowel Diseases and Kidneys

    Directory of Open Access Journals (Sweden)

    A.E. Dorofeiev

    2015-09-01

    Full Text Available This review of contemporary publications analyzes the prevalence of combinations of bowel and renal diseases. Special attention is paid to the problem of correlation between bowel diseases and urolithiasis. We consider the possible pathogenic mechanisms of lesions, such as genetically determined violations of intestinal absorption and secretion, changes in the intestinal microbiota, systemic inflammatory response, water and electrolyte disturbances.

  5. Management of diverticular disease.

    Science.gov (United States)

    Pfützer, Roland H; Kruis, Wolfgang

    2015-11-01

    Diverticular disease is a common condition in Western countries and the incidence and prevalence of the disease is increasing. The pathogenetic factors involved include structural changes in the gut that increase with age, a diet low in fibre and rich in meat, changes in intestinal motility, the concept of enteric neuropathy and an underlying genetic background. Current treatment strategies are hampered by insufficient options to stratify patients according to individual risk. One of the main reasons is the lack of an all-encompassing classification system of diverticular disease. In response, the German Society for Gastroenterology and Digestive Diseases (DGVS) has proposed a classification system as part of its new guideline for the diagnosis and management of diverticular disease. The classification system includes five main types of disease: asymptomatic diverticulosis, acute uncomplicated and complicated diverticulitis, as well as chronic diverticular disease and diverticular bleeding. Here, we review prevention and treatment strategies stratified by these five main types of disease, from prevention of the first attack of diverticulitis to the management of chronic complications and diverticular bleeding.

  6. Management of Crohn's disease.

    Science.gov (United States)

    Kammermeier, Jochen; Morris, Mary-Anne; Garrick, Vikki; Furman, Mark; Rodrigues, Astor; Russell, Richard K

    2016-05-01

    Crohn's disease (CD) is rapidly increasing in children so an up to date knowledge of diagnosis, investigation and management is essential. Exclusive enteral nutrition is the first line treatment for active disease. The vast majority of children will need immunosuppressant treatment and around 20% will need treatment with biologics. Recent guidelines have helped make best use of available therapies.

  7. Women and Heart Disease

    Institute of Scientific and Technical Information of China (English)

    邹国如

    2005-01-01

    Heart disease is the leading killer of Americans. But it kills more women than men. The American Heart Association says heart disease and other cardiovascular (心血管的) disorders kill about five hundred thousand women a year. That is more than the next seven causes of death combined.

  8. Falls in Parkinson's disease.

    NARCIS (Netherlands)

    Grimbergen, Y.A.M.; Munneke, M.; Bloem, B.R.

    2004-01-01

    PURPOSE OF REVIEW: To summarize the latest insights into the clinical significance, assessment, pathophysiology and treatment of falls in Parkinson's disease. RECENT FINDINGS: Recent studies have shown that falls are common in Parkinson's disease, even when compared with other fall-prone populations

  9. Rheumatic diseases and pregnancy

    African Journals Online (AJOL)

    without renal disease, including spontaneous abortion, premature abortion, premature delivery, intrauterine growth restriction and pre- eclampsia.[2] SLE .... Sjögren's syndrome is a chronic autoimmune inflammatory disease affecting primarily .... interleukin 10 (IL-10), and the effects of hormonal changes.[2,6,18] In addition ...

  10. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... How Does Depression Affect the Patient's Family and Social Network? How Does Parkinson's Disease Affect Memory? How Does Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's ... our Helpline: 1-800-4PD-INFO (473-4636) Staffed by nurses, social workers and therapists, our Helpline is here to ...

  11. Pellagra complicating Crohn's disease.

    OpenAIRE

    Zaki, I.; Millard, L

    1995-01-01

    We report a 53-year-old patient with clinical features of pellagra as a complication of Crohn's disease. His symptoms improved rapidly on taking oral nicotinic acid and vitamin B complex. We suggest the paucity of reported cases of pellagra in Crohn's disease is a reflection of poor recognition of this complication.

  12. Autophagy in Inflammatory Diseases

    Directory of Open Access Journals (Sweden)

    Alexander J. S. Choi

    2011-01-01

    Full Text Available Autophagy provides a mechanism for the turnover of cellular organelles and proteins through a lysosome-dependent degradation pathway. During starvation, autophagy exerts a homeostatic function that promotes cell survival by recycling metabolic precursors. Additionally, autophagy can interact with other vital processes such as programmed cell death, inflammation, and adaptive immune mechanisms, and thereby potentially influence disease pathogenesis. Macrophages deficient in autophagic proteins display enhanced caspase-1-dependent proinflammatory cytokine production and the activation of the inflammasome. Autophagy provides a functional role in infectious diseases and sepsis by promoting intracellular bacterial clearance. Mutations in autophagy-related genes, leading to loss of autophagic function, have been implicated in the pathogenesis of Crohn's disease. Furthermore, autophagy-dependent mechanisms have been proposed in the pathogenesis of several pulmonary diseases that involve inflammation, including cystic fibrosis and pulmonary hypertension. Strategies aimed at modulating autophagy may lead to therapeutic interventions for diseases associated with inflammation.

  13. Hyperparathyroidism of Renal Disease

    Science.gov (United States)

    Yuen, Noah K; Ananthakrishnan, Shubha; Campbell, Michael J

    2016-01-01

    Renal hyperparathyroidism (rHPT) is a common complication of chronic kidney disease characterized by elevated parathyroid hormone levels secondary to derangements in the homeostasis of calcium, phosphate, and vitamin D. Patients with rHPT experience increased rates of cardiovascular problems and bone disease. The Kidney Disease: Improving Global Outcomes guidelines recommend that screening and management of rHPT be initiated for all patients with chronic kidney disease stage 3 (estimated glomerular filtration rate, < 60 mL/min/1.73 m2). Since the 1990s, improving medical management with vitamin D analogs, phosphate binders, and calcimimetic drugs has expanded the treatment options for patients with rHPT, but some patients still require a parathyroidectomy to mitigate the sequelae of this challenging disease. PMID:27479950

  14. Obesity and kidney disease

    Directory of Open Access Journals (Sweden)

    Geraldo Bezerra da Silva Junior

    Full Text Available Abstract Obesity has been pointed out as an important cause of kidney diseases. Due to its close association with diabetes and hypertension, excess weight and obesity are important risk factors for chronic kidney disease (CKD. Obesity influences CKD development, among other factors, because it predisposes to diabetic nephropathy, hypertensive nephrosclerosis and focal and segmental glomerulosclerosis. Excess weight and obesity are associated with hemodynamic, structural and histological renal changes, in addition to metabolic and biochemical alterations that lead to kidney disease. Adipose tissue is dynamic and it is involved in the production of "adipokines", such as leptin, adiponectin, tumor necrosis factor-α, monocyte chemoattractant protein-1, transforming growth factor-β and angiotensin-II. A series of events is triggered by obesity, including insulin resistance, glucose intolerance, dyslipidemia, atherosclerosis and hypertension. There is evidence that obesity itself can lead to kidney disease development. Further studies are required to better understand the association between obesity and kidney disease.

  15. Biomarkers in Airway Diseases

    Directory of Open Access Journals (Sweden)

    Janice M Leung

    2013-01-01

    Full Text Available The inherent limitations of spirometry and clinical history have prompted clinicians and scientists to search for surrogate markers of airway diseases. Although few biomarkers have been widely accepted into the clinical armamentarium, the authors explore three sources of biomarkers that have shown promise as indicators of disease severity and treatment response. In asthma, exhaled nitric oxide measurements can predict steroid responsiveness and sputum eosinophil counts have been used to titrate anti-inflammatory therapies. In chronic obstructive pulmonary disease, inflammatory plasma biomarkers, such as fibrinogen, club cell secretory protein-16 and surfactant protein D, can denote greater severity and predict the risk of exacerbations. While the multitude of disease phenotypes in respiratory medicine make biomarker development especially challenging, these three may soon play key roles in the diagnosis and management of airway diseases.

  16. Celiac disease: clinical observations

    Directory of Open Access Journals (Sweden)

    Yu. A. Emel’yanova

    2016-01-01

    Full Text Available Presented clinical cases of patients with a diagnosis of gluten enteropathy in treatment in the department of gastroenterology Regional Clinical Hospital. The case is of interest to doctors of different specialties for the differential diagnosis of anemia and malabsorption syndrome, demonstrate both the classic version, and atypical forms of the disease course. Diagnosis of celiac disease is based on three key positions: clinical findings, histology and serological markers. The clinical picture of celiac disease is characterized by pronounced polymorphism, by going beyond the a gastroenterological pathology. For screening of gluten sensitive celiac typically used an antibody to tissue transglutaminase. Morphological research of the mucous membrane of the small intestine is the determining criterion in the diagnosis of celiac disease. The use of specific gluten-free diet leads to the positive dynamics of the disease and improve the quality of life of patients.

  17. Hyperosmia in Lyme disease

    Directory of Open Access Journals (Sweden)

    Basant K. Puri

    2014-08-01

    Full Text Available Neurological involvement in Lyme disease has been reported to include meningitis, cranial neuropathy and radiculoneuritis. While it is known that in some cases of asceptic meningitis patients may develop hyperosmia, the association between hyperosmia and Lyme disease has not previously been studied. Objective To carry out the first systematic study to ascertain whether hyperosmia is also a feature of Lyme disease. Method A questionnaire regarding abnormal sensory sensitivity in respect of the sense of smell was administered to 16 serologically positive Lyme disease patients and to 18 control subjects. Results The two groups were matched in respect of age, sex and body mass. None of the 34 subjects was suffering from migraine. Eight (50% of the Lyme patients and none (0% of the controls suffered from hyperosmia (p=0.0007. Conclusion This first systematic controlled study showed that Lyme disease is associated with hyperosmia.

  18. Headache in autoimmune diseases.

    Science.gov (United States)

    John, Seby; Hajj-Ali, Rula A

    2014-03-01

    Autoimmune diseases are a group of heterogeneous inflammatory disorders characterized by systemic or localized inflammation, leading to ischemia and tissue destruction. These include disorders like systemic lupus erythematosus and related diseases, systemic vasculitides, and central nervous system (CNS) vasculitis (primary or secondary). Headache is a very common manifestation of CNS involvement of these diseases. Although headache characteristics can be unspecific and often non-diagnostic, it is important to recognize because headache can be the first manifestation of CNS involvement. Prompt recognition and treatment is necessary not only to treat the headache, but also to help prevent serious neurological sequelae that frequently accompany autoimmune diseases. In this review, we discuss headache associated with autoimmune diseases along with important mimics.

  19. Autoimmune liver diseases

    Institute of Scientific and Technical Information of China (English)

    Pietro Invernizzi; Ian R Mackay

    2008-01-01

    The liver was one of the earliest recognized sites among autoimmune diseases yet autoimmune hepatitis,primary biliary cirrhosis,primary sclerosing cholangitis,and their overlap forms,are still problematic in diagnosis and causation.The contributions herein comprise 'pairs of articles' on clinical characteristics,and concepts of etiopathogenesis,for each of the above diseases,together with childhood autoimmune liver disease,overlaps,interpretations of diagnostic serology,and liver transplantation.This issue is timely,since we are witnessing an ever increasing applicability of immunology to a wide variety of chronic diseases,hepatic and non-hepatic,in both developed and developing countries.The 11 invited expert review articles capture the changing features over recent years of the autoimmune liver diseases,the underlying immunomolecular mechanisms of development,the potent albeit still unexplained genetic influences,the expanding repertoire of immunoserological diagnostic markers,and the increasingly effective therapeutic possibilities.

  20. Disease: H00424 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00424 Defects in the degradation of sphingomyelin, including: Niemann-Pick disease...elin is a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type...brane turnover. Inherited metabolic disease; Lysosomal storage disease; Nervous system disease hsa00600(6609...ressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different...mith EL, Schuchman EH The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common disea

  1. Coeliac disease and autoimmune disease-genetic overlap and screening

    NARCIS (Netherlands)

    Lundin, Knut E. A.; Wijmenga, Cisca

    Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity

  2. Achalasia and thyroid disease

    Institute of Scientific and Technical Information of China (English)

    Mohammad Hassan Emami; Mostafa Raisi; Jaleh Amini; Hamed Daghaghzadeh

    2007-01-01

    AIM: To investigate some possible etiologies of achalasia by screening patients with achalasia for some autoimmune diseases such as thyroid disease.METHODS: We examined 30 known cases of achalasia (20 females, 10 males). Their age ranged 15-70 years.All of them were referred to our institute for treatment.Their sera were evaluated to detect some possible associations with rheumatoid disease, thyroid disease,inflammatory process, anemia, etc.RESULTS: Seven out of 30 patients (23%) had thyroid disease including four patients with hypothyroidism (13.3%), two patients with hyperthyroidism (6.6%),and one had only thyroid nodule but was in euthyroid state (3.3%). Two of these hypothyroid patients had no related clinical symptoms (subclinical) and two had clinical manifestations of hypothyroidism. There were no correlations between the intensity of thyroid diseases and the severity of achalasia symptoms.CONCLUSION: The etiology of achalasia is unknown although autoimmunity has been implicated and is supported by several studies. Thyroid disease presents concomitantly with achalasia in about one fourth of our patients who may have a common etiology.

  3. Osteoporosis in Parkinson's disease.

    Science.gov (United States)

    Invernizzi, Marco; Carda, Stefano; Viscontini, Giovanni Sguazzini; Cisari, Carlo

    2009-06-01

    Patients affected by Parkinson's disease are at a high risk for fractures, mainly of the hip. These fractures are caused by falls due to postural imbalance, neurological impairment and reduced bone mass. The purpose of this study was (1) to investigate the correlations and the pathophysiological mechanisms underlying bone loss in Parkinson's disease and appraise bone loss or fracture risk reduction interventions; (2) to develop a research agenda that informs the design and development of risk reduction strategies. Osteoporosis and osteopenia are very common findings in patients with Parkinson's disease, affecting up to 91% of women and 61% of men. Reduced bone mass in Parkinsonian patients seems to be caused mainly by reduced mobility through a mechanism similar to that observed in other neurological diseases. Endocrine (such as vitamin D deficiency), nutritional and iatrogenic factors also play an important role in bone mass depletion. Female gender, disease duration and severity (Hoehn and Yahr stages III and IV), old age and low body mass index are related to more severe osteoporosis. Vitamin D supplementation and bisphosphonates seem to be effective in reducing the risk of nonvertebral fractures in patients affected by Parkinson's disease. Prevention and evaluation of osteoporosis through bone mass density assessment should be considered in all patients with Parkinson's disease.

  4. Domoic Acid Epileptic Disease

    Directory of Open Access Journals (Sweden)

    John S. Ramsdell

    2014-03-01

    Full Text Available Domoic acid epileptic disease is characterized by spontaneous recurrent seizures weeks to months after domoic acid exposure. The potential for this disease was first recognized in a human case study of temporal lobe epilepsy after the 1987 amnesic shellfish-poisoning event in Quebec, and was characterized as a chronic epileptic syndrome in California sea lions through investigation of a series of domoic acid poisoning cases between 1998 and 2006. The sea lion study provided a breadth of insight into clinical presentations, unusual behaviors, brain pathology, and epidemiology. A rat model that replicates key observations of the chronic epileptic syndrome in sea lions has been applied to identify the progression of the epileptic disease state, its relationship to behavioral manifestations, and to define the neural systems involved in these behavioral disorders. Here, we present the concept of domoic acid epileptic disease as a delayed manifestation of domoic acid poisoning and review the state of knowledge for this disease state in affected humans and sea lions. We discuss causative mechanisms and neural underpinnings of disease maturation revealed by the rat model to present the concept for olfactory origin of an epileptic disease; triggered in dendodendritic synapases of the olfactory bulb and maturing in the olfactory cortex. We conclude with updated information on populations at risk, medical diagnosis, treatment, and prognosis.

  5. Genetics of Parkinson's disease.

    Science.gov (United States)

    Gasser, Thomas

    2005-08-01

    Parkinson's disease is the second most common neurodegenerative disorder and affects 2% of the population over the age of 60 years. Due to the increasing proportion of elderly individuals in developed countries, Parkinson's disease and related neurodegenerative disorders represent a growing burden on the health care system. In the majority of cases, the cause of the disease is still unknown, and its elucidation remains one of the major challenges of the neurosciences. Recent findings in rare genetic forms of Parkinson's disease have allowed the development of novel animal models, providing a basis for a better understanding of the molecular pathogenesis of the disease, setting the stage for the development of novel treatment strategies. Several novel genes for monogenic forms of Parkinson's disease, such as PINK-1 for an autosomal-recessive early-onset variant, and LRRK2 for a relatively common late-onset autosomal-dominant form have recently been discovered, and several novel animal models have been generated on the basis of genes that had been found earlier. The combination of genetic, pathologic and molecular findings provide increasing evidence that the pathways identified through the cloning of different disease genes are interacting on different levels and share several major pathogenic mechanisms.

  6. Chromatin deregulation in disease.

    Science.gov (United States)

    Mirabella, Anne C; Foster, Benjamin M; Bartke, Till

    2016-03-01

    The regulation of chromatin by epigenetic mechanisms plays a central role in gene expression and is essential for development and maintenance of cell identity and function. Aberrant chromatin regulation is observed in many diseases where it leads to defects in epigenetic gene regulation resulting in pathological gene expression programmes. These defects are caused by inherited or acquired mutations in genes encoding enzymes that deposit or remove DNA and histone modifications and that shape chromatin architecture. Chromatin deregulation often results in neurodevelopmental disorders and intellectual disabilities, frequently linked to physical and developmental abnormalities, but can also cause neurodegenerative diseases, immunodeficiency, or muscle wasting syndromes. Epigenetic diseases can either be of monogenic origin or manifest themselves as complex multifactorial diseases such as in congenital heart disease, autism spectrum disorders, or cancer in which mutations in chromatin regulators are contributing factors. The environment directly influences the epigenome and can induce changes that cause or predispose to diseases through risk factors such as stress, malnutrition or exposure to harmful chemicals. The plasticity of chromatin regulation makes targeting the enzymatic machinery an attractive strategy for therapeutic intervention and an increasing number of small molecule inhibitors against a variety of epigenetic regulators are in clinical use or under development. In this review, we will give an overview of the molecular lesions that underlie epigenetic diseases, and we will discuss the impact of the environment and prospects for epigenetic therapies.

  7. ATYPICAL KAWASAKI DISEASE.

    Science.gov (United States)

    Ristovski, Ljiljana; Milankov, Olgica; Vislavski, Melanija; Savić, Radojica; Bjelica, Milena

    2016-01-01

    Kawasaki disease is an acute vasculitis which occurs primarily in children under the age of 5. The etiology of the disease is still unknown. Diagnostic criteria for Kawasaki disease are fever and at least four of the five additional clinical signs. Incomplete Kawasaki disease should be taken into consideration in case of all children with unexplained fever for more than 5 days, associated with 2 or 3 of the main clinical findings of Kawasaki disease. The diagnosis of incomplete Kawasaki disease is based on echocardiographic findings indicating the involvement of the coronary arteries. Cardiac complications, mostly coronary artery aneurysm, can occur in 20% to 25% of untreated patients and in 4% of treated patients. CASE REPORT. In this report we present a case of atypical Kawasaki disease in a 3.5-month-old infant. As soon as the diagnosis was made, the patient received high doses of intravenous immunoglobulin, with the initial introduction of ibuprofen, then aspirin with a good clinical response. Due to the presence of aneurysm of coronary arteries, further therapy involved aspirin and clopidogrel over the following 3 months, and then only aspirin for 2 years. There was a gradual regression of the changes in the coronary blood vessels to the normalization of the echocardiographic findings after 2 years. Kawasaki disease is the second most common vasculitis of childhood, so it should be included in the differential diagnosis for any child with a prolonged unexplained fever. Atypical Kawasaki disease should be taken into consideration in cases when not all clinical criteria are present but coronary abnormalities are documented.

  8. Imaging in Hirayama disease

    Directory of Open Access Journals (Sweden)

    Keshav Gupta

    2016-01-01

    Full Text Available Hirayama disease, also known as Sobue disease is a rare nonprogressive spinal muscular atrophy. Here, we report a case series of three young males presenting with atrophy of distal upper limb and Hirayama disease as their clinico-radiological diagnosis. Magnetic resonance imaging (MRI revealed loss of cervical lordosis with focal areas of lower cervical cord atrophy in a neutral position. MRI in flexion position revealed, anterior displacement of the detached posterior dura from the underlying lamina compressing the thecal sac and widened posterior epidural space with flow voids seen better on 3D-CISS images. All the three patients were managed conservatively.

  9. SMOKING AND PERIODONTAL DISEASE

    Directory of Open Access Journals (Sweden)

    Grover Harpreet Singh

    2013-04-01

    Full Text Available Periodontitis is the result of complex interrelationships between infectious agents and host factors. Environmental, acquired, and genetic risk factors modify the expression of disease and may, therefore, affect the onset or progression of periodontitis. Numerous studies of the potential mechanisms whereby smoking tobacco may predispose to periodontal disease have been conducted, and it appears that smoking may affect the vasculature, the humoral immune system, and the cellular immune and inflammatory systems, and have effects throughout the cytokine and adhesion molecule network. The aim of present review is to consider the association between smoking and periodontal diseases.

  10. Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    LIU Jian-rong

    2013-01-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a degenerative central nervous system (CNS disease caused by infection of prion protein (PrP, with clinical features including short course, rapid development and 100% mortality. This article aims to discuss the pathogenesis, histopathological features, clinical manifestations, electroencephalogram (EEG findings, imaging data and treatment progress of this disease based on literature review. Cerebrospinal fluid 14-3-3 protein detection, EEG and MRI are three important methods to make an early diagnosis on patients with suspected CJD, such as elderly patients with rapidly progressive dementia (RPD and young patients with mental symptoms involving multiple systems (MS.

  11. Gaucher′s disease

    Directory of Open Access Journals (Sweden)

    Vijay Bohra

    2011-01-01

    Full Text Available Gaucher′s disease (GD is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream.

  12. Kirsner's inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    R Balfour Sarto; William J Sandborn

    2005-01-01

    @@ Very few medical textbooks have so thoroughly dominated,and even defined a field, as has Inflammatory Bowel Diseases by Joe Kirsner. Originally co-edited with Roy Shorter of Mayo Clinic, this book, beginning with its first edition in 1975, encapsulated the science and art of caring for patients with Crohn's disease and ulcerative colitis. Thus it is with considerable respect, and indeed some awe and trepidation,that we eagerly embraced the opportunity to assume the editorship of this preeminent textbook and the obligation to transition it to reflect the changing, increasingly complex pathophysiology and treatment of these diseases.

  13. [Emerging parasitic diseases].

    Science.gov (United States)

    Weibel Galluzzo, C; Wagner, N; Michel, Y; Jackson, Y; Chappuis, F

    2014-05-07

    Travels, migration and circulation of goods facilitate the emergence of new infectious diseases often unrecognized outside endemic areas. Most of emerging infections are of viral origin. Muscular Sarcocystis infection, an acute illness acquired during short trips to Malaysia, and Chagas disease, a chronic illness with long incubation period found among Latin American migrants, are two very different examples of emerging parasitic diseases. The former requires a preventive approach for travelers going to Malaysia and must be brought forth when they return with fever, myalgia and eosinophilia, while the latter requires a proactive attitude to screen Latin American migrant populations that may face difficulties in accessing care.

  14. Leptin and autoimmune disease.

    Science.gov (United States)

    Fujita, Yoshimasa

    2017-01-01

      Leptin is secreted from adipocytes and acts mainly on the hypothalamus causing weight loss due to suppression of appetite and increased energy expenditure. On the other hand, the leptin receptor is also expressed in hematopoietic cells and its action on the immune system has become known, and the significance of leptin in autoimmune diseases has gradually become clear. It has been shown that leptin acts as an exacerbating factor in many autoimmune diseases and it is suggested that inhibition of leptin signal may be a novel therapeutic method for autoimmune diseases. In this article, we will outline the significance of leptin in the immune system based on the current reports.

  15. INFLAMMATORY BOWEL DISEASE

    Directory of Open Access Journals (Sweden)

    I Gusti Ayu Mahaprani Danastri

    2013-02-01

    Full Text Available Crohn disease (CD and ulcerative colitis (UC is an chronic inflammation in the gastrointestinal tract. Colecctively, they are called inflammatory bowel disease (IBD, and about 1,5 millions people in America suffering from UC and CD. The cause of UC and CD is unknown, but the expert believe that UC and CD are caused by a disturbed immune response in someone who has a genetic predisposition. UC and CD have a significant recurrency  and remission rate. Surgery in UC is a curative treatment for colon’s disease and a potentially colon’s malignancy, but it is not a curative treatment for CD.

  16. Pharmacology of Periodontal Disease.

    Science.gov (United States)

    2014-09-26

    k 7RD-A157 116 PHARMRCOLOGY’ OF PERIODONTAL DISEASE(U) UNIVERSITY OF i/ I HEALTH SCIENCES/CHICAGO MEDICAL SCHOOL DEPT OF I PHARMACOLOGY S F HOFF 24...Region Bethesda, MD 20814-5044 • .RE: Annual Letter Report , ONR Contract #N00014-84-K-0562 "Pharmacology of Periodontal Disease" Dear Capt. Hancock...Annual Letter Report ONR Contract #N00014-84-K-0562 1,! t "Pharmacology of Periodontal Disease" f Steven F. Hoff, Ph.D. (Principal Investigator) A

  17. [Upper extremity arterial diseases].

    Science.gov (United States)

    Becker, F

    2007-02-01

    Compared to lower limb arterial diseases, upper limb arterial diseases look rare, heterogeneous with various etiologies and a rather vague clinical picture, but with a negligible risk of amputation. Almost all types of arterial diseases can be present in the upper limb, but the anatomical and hemodynamic conditions particular to the upper limb often confuse the issue. Thus, atherosclerosis affects mainly the subclavian artery in its proximal segment where the potential of collateral pathway is high making the symptomatic forms not very frequent whereas the prevalence of subclavian artery stenosis or occlusion is relatively high. The clinical examination and the etiologies are discussed according to the clinical, anatomical and hemodynamic context.

  18. Feline dental disease.

    Science.gov (United States)

    Frost, P; Williams, C A

    1986-09-01

    Periodontal disease and chronic gingivitis/stomatitis are the most common feline dental diseases. With routine dental care and increased emphasis on home oral hygiene, these diseases can be controlled. Cats can be seen with a number of other dental disorders, and improved treatment methods such as restorations of early subgingival resorptive lesions, endodontic therapy, and orthodontic therapy can be performed successfully. More study and research are necessary about the gingivitis/stomatitis syndrome and subgingival resorptive lesions so that improved prevention and treatment recommendations can be made.

  19. Adventures in Infectious Diseases

    Energy Technology Data Exchange (ETDEWEB)

    Fisher-Hoch, Susan [University of Texas School of Public Health

    2011-11-01

    Dr. Susan Fisher-Hoch, Virologist and Epidemiologist, will discuss her research and travels associated with viral hemorrhagic fevers. From the Ebola outbreak in Reston, Virginia to outbreaks of Crimean Congo Hemorrhagic Fever in South Africa, Senegal, and Saudi Arabia, Dr. Fisher-Hoch has studied and tracked the pathophysiology of these viral diseases. These studies have led her from the Center for Disease Control in the United States, to Lyon, France where she was instrumental in designing, constructing, and rendering operational a laboratory capable of containing some of the world's most dangerous diseases.

  20. Musculoskeletal Findings in Behcet's Disease

    Directory of Open Access Journals (Sweden)

    Ali Bicer

    2012-01-01

    Full Text Available Behcet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Rheumatologic manifestations may also occur in Behcet's disease, and arthritis and arthralgia are the most common musculoskeletal findings followed by enthesopathy, avascular necrosis, myalgia, and myositis. Although the main pathology of Behcet's disease has been known to be the underlying vasculitis, the etiology and exact pathogenesis of the disease are still unclear. Musculoskeletal findings of Behcet's disease, the relationship between Behcet's disease and spondyloarthropathy disease complex, and the status of bone metabolism in patients with Behcet's disease were discussed in this paper.

  1. Systemic manifestations of oral diseases

    OpenAIRE

    N Chaitanya Babu; Andrea Joan Gomes

    2011-01-01

    The oral cavity is the site of much infectious and inflammatory disease which has been associated with systemic diseases such as diabetes, cardiovascular disease and pre-term low births. This article emphasizes on the oral-systemic disease connection which is now a rapidly advancing area of research. The possible systemic diseases which arise from oral microorganisms are hereby focused.

  2. Respiratory diseases of global consequence

    Science.gov (United States)

    Respiratory diseases are one of the two major categories of poultry diseases that cause the most severe economic losses globally (the other being enteric disease). The economic impact of respiratory disease is both direct, from the production losses caused by primary disease and indirect from preve...

  3. Some Important Diseases of Tree Fruits - Diseases of Vegetable Crops - Diseases of Grapes - Diseases of Tree Nuts.

    Science.gov (United States)

    Petersen, Donald H.; And Others

    This agriculture extension service publication from Pennsylvania State University consists of four sections on plant disease recognition and control. The titles of these four sections are: (1) Some Important Diseases of Tree Fruits; (2) Diseases of Vegetable Crops; (3) Diseases of Crops; and (4) Diseases of Tree Nuts. The first section discusses…

  4. Some Important Diseases of Tree Fruits - Diseases of Vegetable Crops - Diseases of Grapes - Diseases of Tree Nuts.

    Science.gov (United States)

    Petersen, Donald H.; And Others

    This agriculture extension service publication from Pennsylvania State University consists of four sections on plant disease recognition and control. The titles of these four sections are: (1) Some Important Diseases of Tree Fruits; (2) Diseases of Vegetable Crops; (3) Diseases of Crops; and (4) Diseases of Tree Nuts. The first section discusses…

  5. Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination

    Science.gov (United States)

    ... Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination Language: English Español (Spanish) Recommend on Facebook Tweet ... more about health insurance options. Learn about adult vaccination and other health conditions Asplenia Diabetes Heart Disease, ...

  6. United Mitochondrial Disease Foundation

    Science.gov (United States)

    ... to Mitochondrial Disease FAQ's MitoFirst Handbook More Information Mito 101 Symposium Archives Get Connected Find an Event Adult Advisory Council Team Ask The Mito Doc Grand Rounds Kids & Teens Medical Child Abuse ...

  7. Biomarkers of Reflux Disease.

    Science.gov (United States)

    Kia, Leila; Pandolfino, John E; Kahrilas, Peter J

    2016-06-01

    Gastroesophageal reflux disease (GERD) encompasses an array of disorders unified by the reflux of gastric contents. Because there are many potential disease manifestations, esophageal and extraesophageal, there is no single biomarker of the entire disease spectrum; a set of GERD biomarkers that each quantifies specific aspects of GERD-related pathology might be needed. We review recent reports of biomarkers of GERD, specifically in relation to endoscopically negative esophageal disease and excluding conventional pH-impedance monitoring. We consider histopathologic biomarkers, baseline impedance, and serologic assays to determine that most markers are based on manifestations of impaired esophageal mucosal integrity, which is based on increased ionic and molecular permeability, and/or destruction of tight junctions. Impaired mucosal integrity quantified by baseline mucosal impedance, proteolytic fragments of junctional proteins, or histopathologic features has emerged as a promising GERD biomarker.

  8. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... What Does a Caregiver Need to Know About Cognitive Impairment? What Is Patient-Centered Care? What Is ... Depression and Parkinson's Disease? What Medications Help with Cognitive Impairment? What to Expect Emotionally What Treatments Exist ...

  9. What's Mad Cow Disease?

    Science.gov (United States)

    ... Quizzes Kids' Dictionary of Medical Words En Español What Other Kids Are Reading Video: Am I Normal? ( ... Emergency Room? What Happens in the Operating Room? What's Mad Cow Disease? KidsHealth > For Kids > What's Mad ...

  10. Chronic obstructive pulmonary disease

    Science.gov (United States)

    ... and oxygen therapy Right-sided heart failure or cor pulmonale (heart swelling and heart failure due to chronic ... PA: Elsevier Saunders; 2016:chap 44. Read More Cor pulmonale Dilated cardiomyopathy Heart failure - overview Lung disease Patient ...

  11. Caffeine and Heart Disease

    Science.gov (United States)

    ... dehydration. Caffeine is in coffee, tea, soft drinks, chocolate and some nuts. Whether high caffeine intake increases ... and Heart Disease Healthy Eating • Healthy Eating Home • Nutrition AHA Diet and Lifestyle Recommendations Making Healthy Choices ...

  12. Vaccines and Kawasaki disease.

    Science.gov (United States)

    Esposito, Susanna; Bianchini, Sonia; Dellepiane, Rosa Maria; Principi, Nicola

    2016-01-01

    The distinctive immune system characteristics of children with Kawasaki disease (KD) could suggest that they respond in a particular way to all antigenic stimulations, including those due to vaccines. Moreover, treatment of KD is mainly based on immunomodulatory therapy. These factors suggest that vaccines and KD may interact in several ways. These interactions could be of clinical relevance because KD is a disease of younger children who receive most of the vaccines recommended for infectious disease prevention. This paper shows that available evidence does not support an association between KD development and vaccine administration. Moreover, it highlights that administration of routine vaccines is mandatory even in children with KD and all efforts must be made to ensure the highest degree of protection against vaccine-preventable diseases for these patients. However, studies are needed to clarify currently unsolved issues, especially issues related to immunologic interference induced by intravenous immunoglobulin and biological drugs.

  13. Travelers' Health: Meningococcal Disease

    Science.gov (United States)

    ... in an Area with Zika? Find a Clinic Yellow Fever Vaccinations Clinics FAQ Disease Directory Resources Resources for ... CE Courses and Training Presentations for Health Professionals Yellow Fever Vaccine Course About the Yellow Fever Vaccine Course ...

  14. Pelvic Inflammatory Disease

    Science.gov (United States)

    ... and ambulatory settings. 17-20 While no single explanation exists for this declining trend, some have suggested ... Bacterial Vaginosis (BV) Chlamydia Genital Herpes Gonorrhea Hepatitis HIV/AIDS & STDs Human Papillomavirus (HPV) Pelvic Inflammatory Disease ( ...

  15. Protagonists with Parkinson's disease.

    Science.gov (United States)

    Haan, Joost

    2013-01-01

    Parkinson's disease is a complex disorder with many fascinating features. Its onset is creeping, the progression is slow but inevitable. There are motor symptoms, such as a tremor, rigidity, bradykinesia, mask-like facial expression, and postural abnormalities, but also hallucinations, cognitive deterioration, and depression. In many novels, fictive patients with Parkinson's disease play a role. It seems that authors have used many aspects of the disease to emphasize their messages. Their narratives include themes such as rigidity, petrifaction, confusion, dementia, and hallucinations. In this chapter, as examples, several protagonists with Parkinson's disease will be described from works of John Updike, Jonathan Franzen, Sue Miller, J.M. Coetzee, and John Harding, among others.

  16. Carotid Artery Disease

    Science.gov (United States)

    ... other risk factors, such as high blood pressure, cardiovascular disease, diabetes and sleep apnea. Limit cholesterol and fat. Cutting back on saturated fat, in particular, may reduce buildup of plaques ...

  17. Heart disease. Third edition

    Energy Technology Data Exchange (ETDEWEB)

    Braunwald, E.

    1988-01-01

    This book contains 62 chapters. Some of the chapter titles are: Radiological and Angiographic Examination of the Heart; Newer Cardiac Imaging Techniques: Digital Subtraction Angiography, Computerized Tomography, Magnetic Resonance Imaging; Nuclear Cardiology; and Genetics and Cardiovascular Disease.

  18. Chronic Kidney Disease (CKD)

    Science.gov (United States)

    ... CKD treated? Kidney-friendly diet for CKD What causes chronic kidney disease (CKD)? Anyone can get CKD. Some people are ... and high blood pressure are the most common causes of CKD. If you have diabetes or high blood pressure, ...

  19. Minimal change disease

    Science.gov (United States)

    ... get worse You develop new symptoms, including side effects from the medicines used to treat the disorder Alternative Names Minimal change nephrotic syndrome; Nil disease; Lipoid nephrosis; Idiopathic nephrotic syndrome of childhood Images ...

  20. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Use for Freezing? Are There Any Ways to Control the Rate of Progression of the Disease? Ask ... What Are Some Practical Strategies for Improving the Quality of Sleep? What Are Some Strategies for Problems ...