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Sample records for anthracnose disease caused

  1. Spot Anthracnose Disease Caused by Colletotrichum gloeosporioides on Tulip Tree in Korea.

    PubMed

    Choi, Okryun; Choi, Okhee; Kwak, Youn-Sig; Kim, Jinwoo; Kwon, Jin-Hyeuk

    2012-03-01

    The tulip tree (Liriodendron chinense) has been widely cultivated in Korea as a street or garden tree for its large flowers, which have a superficial resemblance to tulips. Occurrence of anthracnose disease on the leaves of tulip trees growing on the campus of Gyeongsang National University, Jinju, Korea, has been observed. Based on mycological characteristics, pathogenicity, and internal transcribed spacer sequence, the causal fungus was identified as Colletotrichum gloeosporioides. This is the first report on anthracnose disease caused by C. gloeosporioides on tulip trees in Korea.

  2. Anthracnose disease of switchgrass caused by the novel fungal species Colletotrichum navitas.

    PubMed

    Crouch, Jo Anne; Beirn, Lisa A; Cortese, Laura M; Bonos, Stacy A; Clarke, Bruce B

    2009-12-01

    In recent years perennial grasses such as the native tallgrass prairie plant Panicum virgatum (switchgrass) have taken on a new role in the North American landscape as a plant-based source of renewable energy. Because switchgrass is a native plant, it has been suggested that disease problems will be minimal, but little research in this area has been conducted. Recently, outbreaks of switchgrass anthracnose disease have been reported from the northeastern United States. Incidences of switchgrass anthracnose are known in North America since 1886 through herbarium specimens and disease reports, but the causal agent of this disease has never been experimentally determined or taxonomically evaluated. In the present work, we evaluate the causal agent of switchgrass anthracnose, a new species we describe as Colletotrichum navitas (navitas=Latin for energy). Multilocus molecular phylogenetics and morphological characters show C. navitas is a novel species in the falcate-spored graminicolous group of the genus Colletotrichum; it is most closely related to the corn anthracnose pathogen Colletotrichum graminicola. We present a formal description and illustrations for C. navitas and provide experimental confirmation that this organism is responsible for switchgrass anthracnose disease.

  3. Occurrence of Anthracnose on Chinese Mallow Caused by Colletotrichum malvarum.

    PubMed

    Kim, Wan Gyu; Hong, Sung Kee; Kim, Jin Hee

    2008-06-01

    Anthracnose symptoms were frequently observed on leaves, petioles, and stems of Chinese mallow grown in Namyangju, Korea, during a disease survey performed in November, 2007. The disease incidence was as high as 30% in the 12 greenhouses investigated. A total of 38 isolates of the Colletotrichum species were obtained from the anthracnose symptoms, and all the isolates were identified as Colletotrichum malvarum based on their morphological and culture characteristics. Three isolates of the fungus caused anthracnose symptoms on leaves and stems following artificial inoculation, which were similar to those observed during the greenhouse survey. In this study, mycological and pathological characteristics of C. malvarum identified as causing anthracnose of Chinese mallow were clarified.

  4. First report of Colletotrichum nigrum causing anthracnose disease on tomato fruit in New Jersey

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose fruit rot is one of the most serious diseases affecting the production of tomato (Solanum lycopersicum L.) in the United States and is typically incited by Colletotrichum coccodes, C. gloeosporioides or C. dematium (Farr and Rossman 2016). During the summer of 2013, symptoms characteris...

  5. Anthracnose disease of centipedegrass turf caused by Colletotrichum eremochloae, a new fungal species closely related to Colletotrichum sublineola

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Colletotrichum is a cosmopolitan anamorphic fungal genus responsible for anthracnose disease in hundreds of plant species worldwide, including members of the grass family Poaceae. Anthracnose disease of the widely planted, non-native, warm-season lawn grass, Eremochloa ophiuroides (centipedegrass),...

  6. Colletotrichum incanum sp. nov., a curved-conidial species causing soybean anthracnose in USA

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Soybean anthracnose is caused by a number of species of Colletotrichum that as a group represent an important disease that results in significant economic losses. In the present study, Colletotrichum species were isolated from soybean petioles and stems with anthracnose symptoms from soybean fields ...

  7. Apple anthracnose canker life cycle and disease cycle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Apple anthracnose [caused by Neofabraea malicorticis (H.S. Jacks) anamorph Cryptosporiopsis curvispora (Peck)] is a fungal disease that impacts apple production. The pathogen produces cankers on trees as well as a rot on the fruit known as ‘Bull’s-eye rot’. The cankers cause severe damage to trees...

  8. Screening strawberry plants for anthracnose disease resistance using traditional and molecular techniques

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose is one of the most destructive diseases of strawberry which may cause fruit rot, leaf and petiole lesions, crown rot, wilt, and death. Crop loss due to anthracnose diseases can reach into the millions of dollars. Three species of Colletotrichum are considered causative agents of anthr...

  9. Genome Sequence and Annotation of Colletotrichum higginsianum, a Causal Agent of Crucifer Anthracnose Disease

    PubMed Central

    Zampounis, Antonios; Pigné, Sandrine; Dallery, Jean-Félix; Wittenberg, Alexander H. J.; Zhou, Shiguo; Schwartz, David C.

    2016-01-01

    Colletotrichum higginsianum is an ascomycete fungus causing anthracnose disease on numerous cultivated plants in the family Brassicaceae, as well as the model plant Arabidopsis thaliana. We report an assembly of the nuclear genome and gene annotation of this pathogen, which was obtained using a combination of PacBio long-read sequencing and optical mapping. PMID:27540062

  10. Management of apple anthracnose canker

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Apple anthracnose (caused by Neofabraea malicorticis anamorph Cryptosporiopsis curvispora) is a fungal disease that causes cankers on trees and ‘Bull’s-eye rot’ on fruit. In western Washington, it is the canker phase of apple anthracnose that is considered most serious as it can result in death of ...

  11. Diverse Colletotrichum species cause anthracnose of tea plants (Camellia sinensis (L.) O. Kuntze) in China

    PubMed Central

    Wang, Yu-Chun; Hao, Xin-Yuan; Wang, Lu; Bin Xiao; Wang, Xin-Chao; Yang, Ya-Jun

    2016-01-01

    Anthracnose caused by Colletotrichum is one of the most severe diseases that can afflict Camellia sinensis. However, research on the diversity and geographical distribution of Colletotrichum in China remain limited. In this study, 106 Colletotrichum isolates were collected from diseased leaves of Ca. sinensis cultivated in the 15 main tea production provinces in China. Multi-locus phylogenetic analysis coupled with morphological identification showed that the collected isolates belonged to 11 species, including 6 known species (C. camelliae, C. cliviae, C. fioriniae, C. fructicola, C. karstii, and C. siamense), 3 new record species (C. aenigma, C. endophytica, and C. truncatum), 1 novel species (C. wuxiense), and 1 indistinguishable strain, herein described as Colletotrichum sp. Of these species, C. camelliae and C. fructicola were the dominant species causing anthracnose in Ca. sinensis. In addition, our study provided further evidence that phylogenetic analysis using a combination of ApMat and GS sequences can be used to effectively resolve the taxonomic relationships within the C. gloeosporioides species complex. Finally, pathogenicity tests suggested that C. camelliae, C. aenigma, and C. endophytica are more invasive than other species after the inoculation of the leaves of Ca. sinensis. PMID:27782129

  12. Screening for anthracnose disease resistance in strawberry using a detached leaf assay

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Inoculation of detached strawberry leaves with Colletotrichum species may provide a rapid, non-destructive method of identifying anthracnose resistant germplasm. The reliability and validity of assessing disease severity is critical to disease management decisions. We inoculated detached strawberr...

  13. First report of race 2 of Colletotrichum trifolii causing anthracnose on alfalfa (Medicago sativa) in Wisconsin

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose of alfalfa (Medicago sativa), caused by Colletotrichum trifolii, is widespread in the United States. Three physiological races have been described. Race 1 is reported to be the dominant race that is present wherever alfalfa is grown, while race 2 was reported in a limited area in the Mid...

  14. First Report of Anthracnose Caused by Colletotrichum fioriniae on Chinese Matrimony Vine in Korea

    PubMed Central

    Oo, May Moe; Tweneboah, Solomon

    2016-01-01

    A fungus, Colletotrichum fioriniae, was isolated for the first time from fruits of Chinese matrimony vine (Lycium chinense Mill.) in Korea. It was classified as C. fioriniae based on the morphological characteristics and nucleotide sequence of glyceraldehyde-3-phosphate-dehydrogenase and β-tubulin. To the best of our knowledge, this is the first report of C. fioriniae causing anthracnose of Chinese matrimony vine in Korea. PMID:28154492

  15. First Report of Anthracnose Caused by Colletotrichum fioriniae on Chinese Matrimony Vine in Korea.

    PubMed

    Oo, May Moe; Tweneboah, Solomon; Oh, Sang-Keun

    2016-12-01

    A fungus, Colletotrichum fioriniae, was isolated for the first time from fruits of Chinese matrimony vine (Lycium chinense Mill.) in Korea. It was classified as C. fioriniae based on the morphological characteristics and nucleotide sequence of glyceraldehyde-3-phosphate-dehydrogenase and β-tubulin. To the best of our knowledge, this is the first report of C. fioriniae causing anthracnose of Chinese matrimony vine in Korea.

  16. Molecular and phenotypic characterization of Colletotrichum species associated with anthracnose disease in peppers from Sichuan Province, China

    PubMed Central

    Liu, Fangling; Tang, Guiting; Zheng, Xiaojuan; Li, Ying; Sun, Xiaofang; Qi, Xiaobo; Zhou, You; Xu, Jing; Chen, Huabao; Chang, Xiaoli; Zhang, Sirong; Gong, Guoshu

    2016-01-01

    The anthracnose caused by Colletotrichum species is an important disease that primarily causes fruit rot in pepper. Eighty-eight strains representing seven species of Colletotrichum were obtained from rotten pepper fruits in Sichuan Province, China, and characterized according to morphology and the glyceraldehyde-3-phosphate dehydrogenase (GAPDH) sequence. Fifty-two strains were chosen for identification by phylogenetic analyses of multi-locus sequences, including the nuclear ribosomal internal transcribed spacer (ITS) region and the β-tubulin (TUB2), actin (ACT), calmodulin (CAL) and GAPDH genes. Based on the combined datasets, the 88 strains were identified as Colletotrichum gloeosporioides, C. siamense, C. fructicola, C. truncatum, C. scovillei, and C. brevisporum, and one new species was detected, described as Colletotrichum sichuanensis. Notably, C. siamense and C. scovillei were recorded for the first time as the causes of anthracnose in peppers in China. In addition, with the exception of C. truncatum, this is the first report of all of the other Colletotrichum species studied in pepper from Sichuan. The fungal species were all non-host-specific, as the isolates were able to infect not only Capsicum spp. but also Pyrus pyrifolia in pathogenicity tests. These findings suggest that the fungal species associated with anthracnose in pepper may inoculate other hosts as initial inoculum. PMID:27609555

  17. Screening strawberry (Fragria x ananassa) germplasm for anthracnose disease resistance using traditional techniques and molecular makers

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose of strawberry may be caused by any of three Colletotrichum species: C. acutatum, C. gloeosporioides or C. fragariae. These destructive pathogens may infect the fruit, leaves, petioles, crowns or roots and may cause plant death. Traditional and molecular approaches were used to identify a...

  18. Diagnosis of centipedegrass anthracnose caused by Colletotrichum eremochloae sp. nov.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Centipedegrass (Eremochloa ophiuroides) is a medium-textured, stoloniferous warm-season turfgrass used as home lawn and utility turf. It is well-adapted to a wide range of soil conditions but grows best in sandy, acidic soils of low fertility and can withstand some shade. Diseases arise when centip...

  19. Anthracnose of lucky bamboo Dracaena sanderiana caused by the fungus Colletotrichum dracaenophilum in Egypt

    PubMed Central

    Morsy, Ahmed A.; Elshahawy, Ibrahim E.

    2016-01-01

    Dracaena sanderiana, of the family Liliaceae, is among the ornamental plants most frequently imported into Egypt. Typical anthracnose symptoms were observed on the stems of imported D. sanderiana samples. The pathogen was isolated, demonstrated to be pathogenic based on Koch’s rule and identified as Colletotrichum dracaenophilum. The optimum temperature for its growth ranges from 25 to 30 °C, maintained for 8 days. Kemazed 50% wettable powder (WP) was the most effective fungicide against the pathogen, as no fungal growth was observed over 100 ppm. The biocontrol agents Trichoderma harzianum and Trichoderma viride followed by Bacillus subtilis and Bacillus pumilus caused the highest reduction in fungal growth. To the best of our knowledge, this report describes the first time that this pathogen was observed on D. sanderiana in Egypt. PMID:27222738

  20. Sequencing of an Anthracnose-resistant sorghum genotype and mapping of a major QTL reveal strong candidate genes for Anthracnose resistance

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose, caused by the fungal pathogen Colletotrichum sublineolum Henn. ex. Sacc. and Trotter 1913, is an economically damaging disease of sorghum [Sorghum bicolor (L.) Moench] in hot and humid production regions of the world. Control of anthracnose is almost exclusively through the use of genet...

  1. Genome-wide association study of anthracnose resistance in Andean beans

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose is a seed-borne disease of common bean (Phaseolus vulgaris L.) caused by the fungus Colletotrichum lindemuthianum, and the pathogen is cosmopolitan in distribution. The objectives of this study were to identify new sources of anthracnose resistance in a diverse panel of 230 Andean beans ...

  2. Anthracnose of centipedegrass turf

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose is a destructive fungal disease of centipedegrass (Eremochloae ophiuroides) turf that occurs throughout the southern United States and China. In this diagnostic guide, we provide an overview of the causal pathogen, Colletotrichum eremochloae, along with disease symptoms and signs, host ...

  3. Colletotrichum species associated with jute (Corchorus capsularis L.) anthracnose in southeastern China.

    PubMed

    Niu, Xiaoping; Gao, Hong; Qi, Jianmin; Chen, Miancai; Tao, Aifen; Xu, Jiantang; Dai, Zhigang; Su, Jianguang

    2016-04-28

    Anthracnose, caused by the Colletotrichum species of fungi, is one of the most serious diseases affecting jute in China. The disease causes chlorotic regions with black brown sunken necrotic pits on the surfaces of stems. In late stages of disease, plants undergo defoliation, dieback and blight, which make anthracnose a major threat to jute fiber production and quality in China. In this study, 7 strains of Colletotrichum fungi were isolated from diseased jute stems from Zhejiang, Fujian, Guangxi, and Henan plantations in China. Multi-locus sequence (ACT, TUB2, CAL, GS, GAPDH and ITS) analysis coupled with morphological assessment revealed that C. fructicola, C. siamense and C. corchorum-capsularis sp. nov. were associated with jute anthracnose in southeastern China. C. fructicola and C. siamense were previously not associated with jute anthracnose. C. corchorum-capsularis is a new species formally described here. Pathogenicity tests confirmed that all species can infect jute, causing anthracnose, however the virulence of the 3 species differed. This report is the first associating these three species with jute disease worldwide and is the first description of the pathogens responsible for jute anthracnose in China.

  4. Colletotrichum species associated with jute (Corchorus capsularis L.) anthracnose in southeastern China

    PubMed Central

    Niu, Xiaoping; Gao, Hong; Qi, Jianmin; Chen, Miancai; Tao, Aifen; Xu, Jiantang; Dai, Zhigang; Su, Jianguang

    2016-01-01

    Anthracnose, caused by the Colletotrichum species of fungi, is one of the most serious diseases affecting jute in China. The disease causes chlorotic regions with black brown sunken necrotic pits on the surfaces of stems. In late stages of disease, plants undergo defoliation, dieback and blight, which make anthracnose a major threat to jute fiber production and quality in China. In this study, 7 strains of Colletotrichum fungi were isolated from diseased jute stems from Zhejiang, Fujian, Guangxi, and Henan plantations in China. Multi-locus sequence (ACT, TUB2, CAL, GS, GAPDH and ITS) analysis coupled with morphological assessment revealed that C. fructicola, C. siamense and C. corchorum-capsularis sp. nov. were associated with jute anthracnose in southeastern China. C. fructicola and C. siamense were previously not associated with jute anthracnose. C. corchorum-capsularis is a new species formally described here. Pathogenicity tests confirmed that all species can infect jute, causing anthracnose, however the virulence of the 3 species differed. This report is the first associating these three species with jute disease worldwide and is the first description of the pathogens responsible for jute anthracnose in China. PMID:27121760

  5. Co-segregation analysis and mapping of the anthracnose Co-10 and angular leaf spot Phg-ON disease resistance genes in common bean cultivar Ouro Negro

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose (ANT) and angular leaf spot (ALS) are devastating diseases of common bean. Ouro Negro is a highly productive Mesoamerican black-seeded common bean cultivar possessing the dominant Co-10 and Phg-ON genes that confer resistance to ANT and ALS, respectively. In this study we elucidate the ...

  6. Genetic transformation of Colletotrichum truncatum associated with anthracnose disease of chili by random insertional mutagenesis.

    PubMed

    Auyong, Adelene Shu Mei; Ford, Rebecca; Taylor, Paul William James

    2012-08-01

    An Agrobacterium tumefaciens -mediated transformation (ATMT) system was successfully developed for Colletotrichum truncatum, the causal agent of chili anthracnose. A. tumefaciens carrying a hygromycin phosphotransferase gene (hph) and a green fluorescent protein (gfp) gene was used to transform the conidiospores of two C. truncatum pathotypes F8-3B and BRIP26974. Optimum transformation efficiency was obtained when equal volumes of A. tumefaciens strain AGL1 carrying either pJF1 or pPK2 binary vector was used to transform C. truncatum conidiospores at 10(6) /ml and co-cultivated at 24 °C for three days. Southern blot analysis indicated that 87.5% of the transformants contained randomly inserted, single copies of the T-DNA. Infection and colonisation of chili fruit at the mature red stage with F8-3B-GFP and BRIP26974-GFP confirmed the maintenance of virulence within these transformed pathotypes. In situ studies of infection and colonisation of the susceptible genotype fruit using fluorescent microscopy and transformed isolates of C. truncatum expressing GFP revealed that the pathogen was able to colonise healthy fruit tissue intercellularly in an endophytic manner without producing secondary biotrophic infection structures. The developed transformation system will be used to study the function of pathogenicity genes in C. truncatum using both forward and reverse genetics approaches.

  7. Bio-photonic detection method for morphological analysis of anthracnose disease and physiological disorders of Diospyros kaki

    NASA Astrophysics Data System (ADS)

    Wijesinghe, Ruchire Eranga; Lee, Seung-Yeol; Ravichandran, Naresh Kumar; Shirazi, Muhammad Faizan; Moon, Byungin; Jung, Hee-Young; Jeon, Mansik; Kim, Jeehyun

    2016-10-01

    The pathological and physiological defects in various types of fruits lead to large amounts of economical waste. It is well recognized that internal fruit defects due to pathological infections and physiological disorders can be effectively visualized at an initial stage of the disease using a well-known bio-photonic detection method called optical coherence tomography (OCT). This work investigates the use of OCT for identifying the morphological variations of anthracnose (bitter rot) disease infected and physiologically disordered Diospyros kaki (Asian Persimmon) fruits. An experiment was conducted using fruit samples that were carefully selected from persimmon orchards. Depth-resolved images with a high axial resolution were acquired using 850-nm-based spectral-domain OCT (SD-OCT) system. The obtained exemplary high-resolution two-dimensional and volumetric three-dimensional images revealed complementary morphological differences between healthy and defected samples. Moreover, the obtained depth-profile analysis results confirmed the disappearance of the healthy cell layers among the healthy-infected boundary regions. Thus, the proposed method has the potential to increase the diagnostic accuracy of the OCT technique used in agricultural plantations.

  8. Molecular mapping of Cg1, a gene for resistance to anthracnose (Colletotrichum sublineolum) in sorghum

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose, caused by the fungus Colletotrichum sublineolum is one of the most destructive diseases of sorghum and has been reported in most areas where the crop is grown. Several control strategies have been developed but host plant resistance has been regarded as the most effective strategy for ...

  9. Phenotypic and molecular characterization of Colletotrichum species associated with anthracnose of banana (Musa spp) in Malaysia.

    PubMed

    Intan Sakinah, M A; Suzianti, I V; Latiffah, Z

    2014-05-09

    Anthracnose caused by Colletotrichum species is a common postharvest disease of banana fruit. We investigated and identified Colletotrichum species associated with anthracnose in several local banana cultivars based on morphological characteristics and sequencing of ITS regions and of the β-tubulin gene. Thirty-eight Colletotrichum isolates were encountered in anthracnose lesions of five local banana cultivars, 'berangan', 'mas', 'awak', 'rastali', and 'nangka'. Based on morphological characteristics, 32 isolates were identified as Colletotrichum gloeosporioides and 6 isolates as C. musae. C. gloeosporioides isolates were divided into two morphotypes, with differences in colony color, shape of the conidia and growth rate. Based on ITS regions and β-tubulin sequences, 35 of the isolates were identified as C. gloeosporioides and only 3 isolates as C. musae; the percentage of similarity from BLAST ranged from 95-100% for ITS regions and 97-100% for β-tubulin. C. gloeosporioides isolates were more prevalent compared to C. musae. This is the first record of C. gloeosporioides associated with banana anthracnose in Malaysia. In a phylogenetic analysis of the combined dataset of ITS regions and β-tubulin using a maximum likelihood method, C. gloeosporioides and C. musae isolates were clearly separated into two groups. We concluded that C. gloeosporioides and C. musae isolates are associated with anthracnose in the local banana cultivars and that C. gloeosporioides is more prevalent than C. musae.

  10. Quantitative trait loci associated with anthracnose resistance in sorghum

    Technology Transfer Automated Retrieval System (TEKTRAN)

    With an aim to develop a durable resistance to the fungal disease anthracnose, two unique genetic sources of resistance were selected to create genetic mapping populations to identify regions of the sorghum genome that encode anthracnose resistance. A series of quantitative trait loci were identifi...

  11. Biological Control of Apple Anthracnose by Paenibacillus polymyxa APEC128, an Antagonistic Rhizobacterium

    PubMed Central

    Kim, Young Soo; Balaraju, Kotnala; Jeon, Yongho

    2016-01-01

    The present study investigated the suppression of the disease development of anthracnose caused by Colletotrichum gloeosporioides and C. acutatum in harvested apples using an antagonistic rhizobacterium Paenibacillus polymyxa APEC128 (APEC128). Out of 30 bacterial isolates from apple rhizosphere screened for antagonistic activity, the most effective strain was APEC128 as inferred from the size of the inhibition zone. This strain showed a greater growth in brain-heart infusion (BHI) broth compared to other growth media. There was a reduction in anthracnose symptoms caused by the two fungal pathogens in harvested apples after their treatment with APEC128 in comparison with non-treated control. This effect is explained by the increased production of protease and amylase by APEC128, which might have inhibited mycelial growth. In apples treated with different APEC128 suspensions, the disease caused by C. gloeosporioides and C. acutatum was greatly suppressed (by 83.6% and 79%, respectively) in treatments with the concentration of 1 × 108 colony forming units (cfu)/ml compared to other lower dosages, suggesting that the suppression of anthracnose development on harvested apples is dose-dependent. These results indicated that APEC128 is one of the promising agents in the biocontrol of apple anthracnose, which might help to increase the shelf-life of apple fruit during the post-harvest period. PMID:27298600

  12. Antifungal activity of 1-methylcyclopropene (1-MCP) against anthracnose (Colletotrichum gloeosporioides) in postharvest mango fruit and its possible mechanisms of action.

    PubMed

    Xu, Xiangbin; Lei, Huanhuan; Ma, Xiuyan; Lai, Tongfei; Song, Hongmiao; Shi, Xuequn; Li, Jiangkuo

    2017-01-16

    Anthracnose caused by Colletotrichum gloeosporioides is one of the most important postharvest diseases in mango fruit, often causing huge economic losses. In this study, the effect of 1-methylcyclopropene (1-MCP) against anthracnose in postharvest mango fruit and the mechanisms involved were investigated. 1-MCP induced reactive oxygen species (ROS) generation, damaged the mitochondria and destroyed the integrity of plasma membrane of spores of C. gloeosporioides, significantly suppressing spore germination and mycelial growth of C. gloeosporioides. 1-MCP also decreased the decay incidence and lesion expansion of mango fruit caused by C. gloeosporioides. For the first time this study demonstrated that 1-MCP suppressed anthracnose of postharvest mango fruit by directly inhibiting spore germination and mycelial growth of C. gloeosporioides, thus providing a promising strategy for disease control.

  13. Characterization of unique and differentially expressed proteins in anthracnose-tolerant Florida hybrid bunch grapes.

    PubMed

    Vasanthaiah, Hemanth K N; Katam, Ramesh; Basha, Sheikh M

    2009-06-01

    Anthracnose is a major disease in Florida hybrid bunch grapes, caused by a fungus viz. Elsinoe ampelina. Florida hybrid bunch grapes are grown in southeastern USA for their superior wine characteristics. However, the effect of anthracnose on grape productivity and wine quality is a major concern to grape growers. Our research is aimed at determining biochemical basis of anthracnose tolerance in Florida hybrid bunch grape. Leaf samples were collected from the plants infected with E. ampelina at different periods and analyzed for differential protein expression using high throughput two-dimensional gel electrophoresis. Among the 32 differentially expressed leaf proteins, two were uniquely expressed in tolerant genotypes in response to E. ampelina infection. These proteins were identified as mitochondrial adenosine triphosphate synthase and glutamine synthetase, which are known to play a major role in carbohydrate metabolism and defense. Several proteins including ribulose 1-5 bisphosphate-carboxylase involved in photosynthesis were found to be suppressed in susceptible genotypes compared to tolerant genotypes following E. ampelina infection. The results indicate that the anthracnose-tolerant genotypes have the ability to up-regulate and induce new proteins upon infection to defend the invasion of the pathogen as well as maintain the normal regulatory processes.

  14. Endophytic bacterial diversity in the phyllosphere of Amazon Paullinia cupana associated with asymptomatic and symptomatic anthracnose.

    PubMed

    Bogas, Andréa Cristina; Ferreira, Almir José; Araújo, Welington Luiz; Astolfi-Filho, Spartaco; Kitajima, Elliot Watanabe; Lacava, Paulo Teixeira; Azevedo, João Lúcio

    2015-01-01

    Endophytes colonize an ecological niche similar to that of phytopathogens, which make them candidate for disease suppression. Anthracnose is a disease caused by Colletotrichum spp., a phytopathogen that can infect guarana (Paullinia cupana), an important commercial crop in the Brazilian Amazon. We investigated the diversity of endophytic bacteria inhabiting the phyllosphere of asymptomatic and symptomatic anthracnose guarana plants. The PCR-denaturation gradient gel electrophoresis (PCR-DGGE) fingerprints revealed differences in the structure of the evaluated communities. Detailed analysis of endophytic bacteria composition using culture-dependent and 16S rRNA clone libraries revealed the presence of Firmicutes, Proteobacteria, Actinobacteria, Bacteroidetes, and Acidobacteria phyla. Firmicutes comprised the majority of isolates in asymptomatic plants (2.40E(-4)). However, cloning and sequencing of 16S rRNA revealed differences at the genus level for Neisseria (1.4E(-4)), Haemophilus (2.1E(-3)) and Arsenophonus (3.6E(-5)) in asymptomatic plants, Aquicella (3.5E(-3)) in symptomatic anthracnose plants, and Pseudomonas (1.1E(-3)), which was mainly identified in asymptomatic plants. In cross-comparisons of the endophytic bacterial communities as a whole, symptomatic anthracnose plants contained higher diversity, as reflected in the Shannon-Weaver and Simpson indices estimation (P < 0.05). Similarly, comparisons using LIBSHUFF and heatmap analysis for the relative abundance of operational taxonomic units (OTUs) showed differences between endophytic bacterial communities. These data are in agreement with the NMSD and ANOSIM analysis of DGGE profiles. Our results suggest that anthracnose can restructure endophytic bacterial communities by selecting certain strains in the phyllosphere of P. cupana. The understanding of these interactions is important for the development of strategies of biocontrol for Colletotrichum.

  15. Using Genotyping by Sequencing to Map Two Novel Anthracnose Resistance Loci in Sorghum bicolor

    PubMed Central

    J. Felderhoff, Terry; M. McIntyre, Lauren; Saballos, Ana; Vermerris, Wilfred

    2016-01-01

    Colletotrichum sublineola is an aggressive fungal pathogen that causes anthracnose in sorghum [Sorghum bicolor (L.) Moench]. The obvious symptoms of anthracnose are leaf blight and stem rot. Sorghum, the fifth most widely grown cereal crop in the world, can be highly susceptible to the disease, most notably in hot and humid environments. In the southeastern United States the acreage of sorghum has been increasing steadily in recent years, spurred by growing interest in producing biofuels, bio-based products, and animal feed. Resistance to anthracnose is, therefore, of paramount importance for successful sorghum production in this region. To identify anthracnose resistance loci present in the highly resistant cultivar ‘Bk7’, a biparental mapping population of F3:4 and F4:5 sorghum lines was generated by crossing ‘Bk7’ with the susceptible inbred ‘Early Hegari-Sart’. Lines were phenotyped in three environments and in two different years following natural infection. The population was genotyped by sequencing. Following a stringent custom filtering protocol, totals of 5186 and 2759 informative SNP markers were identified in the two populations. Segregation data and association analysis identified resistance loci on chromosomes 7 and 9, with the resistance alleles derived from ‘Bk7’. Both loci contain multiple classes of defense-related genes based on sequence similarity and gene ontologies. Genetic analysis following an independent selection experiment of lines derived from a cross between ‘Bk7’ and sweet sorghum ‘Mer81-4’ narrowed the resistance locus on chromosome 9 substantially, validating this QTL. As observed in other species, sorghum appears to have regions of clustered resistance genes. Further characterization of these regions will facilitate the development of novel germplasm with resistance to anthracnose and other diseases. PMID:27194807

  16. Using genotyping by sequencing to map two novel anthracnose resistance Loci in Sorghum bicolor

    DOE PAGES

    Felderhoff, Terry J.; McIntyre, Lauren M.; Saballos, Ana; ...

    2016-05-18

    Colletotrichum sublineola is an aggressive fungal pathogen that causes anthracnose in sorghum [Sorghum bicolor (L.) Moench]. The obvious symptoms of anthracnose are leaf blight and stem rot. Sorghum, the fifth most widely grown cereal crop in the world, can be highly susceptible to the disease, most notably in hot and humid environments. In the southeastern United States the acreage of sorghum has been increasing steadily in recent years, spurred by growing interest in producing biofuels, bio-based products, and animal feed. Resistance to anthracnose is, therefore, of paramount importance for successful sorghum production in this region. To identify anthracnose resistance locimore » present in the highly resistant cultivar ‘Bk7’, a biparental mapping population of F3:4 and F4:5 sorghum lines was generated by crossing ‘Bk7’ with the susceptible inbred ‘Early Hegari-Sart’. Lines were phenotyped in three environments and in two different years following natural infection. The population was genotyped by sequencing. Following a stringent custom filtering protocol, totals of 5186 and 2759 informative SNP markers were identified in the two populations. Segregation data and association analysis identified resistance loci on chromosomes 7 and 9, with the resistance alleles derived from ‘Bk7’. Both loci contain multiple classes of defense-related genes based on sequence similarity and gene ontologies. In addition, genetic analysis following an independent selection experiment of lines derived from a cross between ‘Bk7’ and sweet sorghum ‘Mer81-4’ narrowed the resistance locus on chromosome 9 substantially, validating this QTL. As observed in other species, sorghum appears to have regions of clustered resistance genes. Further characterization of these regions will facilitate the development of novel germplasm with resistance to anthracnose and other diseases.« less

  17. Linkage mapping of the Phg-1 and Co-14 genes for resistance to angular leaf spot and anthracnose in the common bean cultivar AND 277

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Andean common bean (Phaseolus vulgaris L.) cultivar AND 277 is an important source of disease resistance to angular leaf spot (ALS, caused by Pseudocercospora griseola) and anthracnose (caused by Colletotrichum lindemuthianum). AND 277 has the Phg-1 gene that confers resistance to eight races of...

  18. Real-Time PCR Detection of Dogwood Anthracnose Fungus in Historical Herbarium Specimens from Asia.

    PubMed

    Miller, Stephen; Masuya, Hayato; Zhang, Jian; Walsh, Emily; Zhang, Ning

    2016-01-01

    Cornus species (dogwoods) are popular ornamental trees and important understory plants in natural forests of northern hemisphere. Dogwood anthracnose, one of the major diseases affecting the native North American Cornus species, such as C. florida, is caused by the fungal pathogen Discula destructiva. The origin of this fungus is not known, but it is hypothesized that it was imported to North America with its host plants from Asia. In this study, a TaqMan real-time PCR assay was used to detect D. destructiva in dried herbarium and fresh Cornus samples. Several herbarium specimens from Japan and China were detected positive for D. destructiva, some of which were collected before the first report of the dogwood anthracnose in North America. Our findings further support that D. destructiva was introduced to North America from Asia where the fungus likely does not cause severe disease.

  19. Real-Time PCR Detection of Dogwood Anthracnose Fungus in Historical Herbarium Specimens from Asia

    PubMed Central

    Miller, Stephen; Masuya, Hayato; Zhang, Jian; Walsh, Emily; Zhang, Ning

    2016-01-01

    Cornus species (dogwoods) are popular ornamental trees and important understory plants in natural forests of northern hemisphere. Dogwood anthracnose, one of the major diseases affecting the native North American Cornus species, such as C. florida, is caused by the fungal pathogen Discula destructiva. The origin of this fungus is not known, but it is hypothesized that it was imported to North America with its host plants from Asia. In this study, a TaqMan real-time PCR assay was used to detect D. destructiva in dried herbarium and fresh Cornus samples. Several herbarium specimens from Japan and China were detected positive for D. destructiva, some of which were collected before the first report of the dogwood anthracnose in North America. Our findings further support that D. destructiva was introduced to North America from Asia where the fungus likely does not cause severe disease. PMID:27096929

  20. Chilli Anthracnose: The Epidemiology and Management

    PubMed Central

    Saxena, Amrita; Raghuwanshi, Richa; Gupta, Vijai Kumar; Singh, Harikesh B.

    2016-01-01

    Indian cuisine is renowned and celebrated throughout the world for its spicy treat to the tongue. The flavor and aroma of the food generated due to the use of spices creates an indelible experience. Among the commonly utilized spices to stimulate the taste buds in Indian food, whole or powdered chilli constitutes an inevitable position. Besides being a vital ingredient of of Indian food, chilli occupy an important position as an economic commodity, a major share in Indian economy. Chilli also has uncountable benefits to human health. Fresh green chilli fruits contain more Vitamin C than found in citrus fruits, while red chilli fruits have more Vitamin A content than as found in carrots. The active component of the spice, Capsaicin possesses the antioxidant, anti-mutagenic, anti-carcinogenic and immunosuppressive activities having ability to inhibit bacterial growth and platelet aggregation. Though introduced by the Portuguese in the Seventeenth century, India has been one of the major producers and exporters of this crop. During 2010–2011, India was the leading exporter and producer of chilli in the world, but recently due to a decline in chilli production, it stands at third position in terms of its production. The decline in chilli production has been attributed to the diseases linked with crop like anthracnose or fruit rot causing the major share of crop loss. The disease causes severe damage to both mature fruits in the field as well as during their storage under favorable conditions, which amplifies the loss in yield and overall production of the crop. This review gives an account of the loss in production and yield procured in chili cultivation due to anthracnose disease in Indian sub-continent, with emphasis given to the sustainable management strategies against the conventionally recommended control for the disease. Also, the review highlights the various pathogenic species of Colletotrichum spp, the causal agent of the disease, associated with the host

  1. Chilli Anthracnose: The Epidemiology and Management.

    PubMed

    Saxena, Amrita; Raghuwanshi, Richa; Gupta, Vijai Kumar; Singh, Harikesh B

    2016-01-01

    Indian cuisine is renowned and celebrated throughout the world for its spicy treat to the tongue. The flavor and aroma of the food generated due to the use of spices creates an indelible experience. Among the commonly utilized spices to stimulate the taste buds in Indian food, whole or powdered chilli constitutes an inevitable position. Besides being a vital ingredient of of Indian food, chilli occupy an important position as an economic commodity, a major share in Indian economy. Chilli also has uncountable benefits to human health. Fresh green chilli fruits contain more Vitamin C than found in citrus fruits, while red chilli fruits have more Vitamin A content than as found in carrots. The active component of the spice, Capsaicin possesses the antioxidant, anti-mutagenic, anti-carcinogenic and immunosuppressive activities having ability to inhibit bacterial growth and platelet aggregation. Though introduced by the Portuguese in the Seventeenth century, India has been one of the major producers and exporters of this crop. During 2010-2011, India was the leading exporter and producer of chilli in the world, but recently due to a decline in chilli production, it stands at third position in terms of its production. The decline in chilli production has been attributed to the diseases linked with crop like anthracnose or fruit rot causing the major share of crop loss. The disease causes severe damage to both mature fruits in the field as well as during their storage under favorable conditions, which amplifies the loss in yield and overall production of the crop. This review gives an account of the loss in production and yield procured in chili cultivation due to anthracnose disease in Indian sub-continent, with emphasis given to the sustainable management strategies against the conventionally recommended control for the disease. Also, the review highlights the various pathogenic species of Colletotrichum spp, the causal agent of the disease, associated with the host

  2. Biocontrol activity and primed systemic resistance by compost water extracts against anthracnoses of pepper and cucumber.

    PubMed

    Sang, Mee Kyung; Kim, Ki Deok

    2011-06-01

    We investigated direct and indirect effects of compost water extracts (CWEs) from Iljuk-3, Iljuk-7, Shinong-8, and Shinong-9 for the control of anthracnoses caused by Colletotrichum coccodes on pepper and C. orbiculare on cucumber. All tested CWEs significantly (P < 0.05) inhibited in vitro conidial germination and appressorium formation of the fungal pathogens; however, DL-β-amino-n-butyric acid (BABA) failed to inhibit the conidial development of the pathogens. Direct treatments of the CWEs and BABA on pepper and cucumber leaves at 1 and 3 days before or after inoculation significantly (P < 0.05) reduced anthracnose severities; Iljuk-3, Shinong-9, and BABA for pepper and Iljuk-7 for cucumber had more protective activities than curative activities. In addition, root treatment of CWEs suppressed anthracnoses on the plants by the pathogens; however, CWE treatment on lower leaves failed to reduce the diseases on the upper leaves of the plants. The CWE root treatments enhanced not only the expression of the pathogenesis-related (PR) genes CABPR1, CABGLU, CAChi2, CaPR-4, CAPO1, and CaPR-10 in pepper and PR1-1a, PR-2, PR-3, and APOX in cucumber but also the activity of β-1,3-glucanase, chitinase, and peroxidase and the generation of hydrogen peroxide in pepper and cucumber under pathogen-inoculated conditions. However, the CWE treatments failed to induce the plant responses under pathogen-free conditions. These results indicated that the CWEs had direct effects, reducing anthracnoses by C. coccodes on pepper leaves and C. orbiculare on cucumber leaves through protective and curative effects. In addition, CWE root treatments could induce systemic resistance in the primed state against pathogens on plant leaves that enhanced PR gene expression, defense-related enzyme production, and hydrogen peroxide generation rapidly and effectively immediately after pathogen infection. Thus, the CWEs might suppress anthracnoses on leaves of both pepper and cucumber through primed

  3. Chitosan controls postharvest anthracnose in bell pepper by activating defense-related enzymes.

    PubMed

    Edirisinghe, Madushani; Ali, Asgar; Maqbool, Mehdi; Alderson, Peter G

    2014-12-01

    Anthracnose, a postharvest disease caused by the fungus Colletotrichum capsici is the most devastating disease of bell pepper that causes great economic losses especially in tropical climates. Therefore, the objective of this study was to evaluate the antifungal properties of chitosan (low molecular weight from crab shell, Mw: 50 kDa and 75-85 % deacetylated) against anthracnose by inducing defense-related enzymes. The concentrations of 0, 0.5, 1.0, 1.5 and 2.0 % chitosan were used to control the fungus in vitro and postharvest. There was a reduction in C. capsici mycelial growth and the highest chitosan concentration (2.0 %) reduced the growth by 70 % after 7 days incubation. In germination test, the concentration of 1.5 and 2.0 % chitosan reduced spore germination in C. capsici between 80 % and 84 %, respectively. In postharvest trial the concentration of 1.5 % decreased the anthracnose severity in pepper fruit by approximately 76 % after 28 days of storage (10 ± 1 °C; 80 % RH). For enzymatic activities, the concentration of 1.5 and 2.0 % chitosan increased the polyphenol oxidase (PPO), peroxidase (POD) and total phenolics in inoculated bell pepper during storage. Based on these results, the chitosan presents antifungal properties against C. capsici, as well as potential to induce resistance on bell pepper.

  4. First report of anthracnose of mile-a-minute (Persicaria perfoliata) caused by Colletotrichum gloeosporioides in Turkey

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mile-a-minute (Persicaria perfoliata (L.) H. Gross; family Polygonaceae) is an exotic annual barbed vine that is now invasive in the northeastern USA, Mississippi, and Oregon and is a target of biological control efforts. In July, 2010, diseased P. perfoliata plants were found along the Firtina Rive...

  5. A New Anthracnose Resistance Gene in Andean Common Bean Cultivar Jalo Listras Pretas

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose is one of the most widespread and economically important diseases of common bean worldwide. Most anthracnose resistance genes in common bean are from beans of the Mesoamerican gene pool. The resistant reaction of the Andean common bean cultivar Jalo Listras Pretas to races 9, 64, 65 and ...

  6. Inheritance and molecular mapping of anthracnose resistance genes present in sorghum line SC112-14

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose (Colletotrichum sublineolum) is one of the most destructive diseases of sorghum (Sorghum bicolor L. Moench) affecting all aerial tissues of the plant. The most effective strategy for its control is the incorporation of resistance genes. Therefore, the anthracnose resistance response pr...

  7. Using genotyping by sequencing to map two novel anthracnose resistance Loci in Sorghum bicolor

    SciTech Connect

    Felderhoff, Terry J.; McIntyre, Lauren M.; Saballos, Ana; Vermerris, Wilfred

    2016-05-18

    Colletotrichum sublineola is an aggressive fungal pathogen that causes anthracnose in sorghum [Sorghum bicolor (L.) Moench]. The obvious symptoms of anthracnose are leaf blight and stem rot. Sorghum, the fifth most widely grown cereal crop in the world, can be highly susceptible to the disease, most notably in hot and humid environments. In the southeastern United States the acreage of sorghum has been increasing steadily in recent years, spurred by growing interest in producing biofuels, bio-based products, and animal feed. Resistance to anthracnose is, therefore, of paramount importance for successful sorghum production in this region. To identify anthracnose resistance loci present in the highly resistant cultivar ‘Bk7’, a biparental mapping population of F3:4 and F4:5 sorghum lines was generated by crossing ‘Bk7’ with the susceptible inbred ‘Early Hegari-Sart’. Lines were phenotyped in three environments and in two different years following natural infection. The population was genotyped by sequencing. Following a stringent custom filtering protocol, totals of 5186 and 2759 informative SNP markers were identified in the two populations. Segregation data and association analysis identified resistance loci on chromosomes 7 and 9, with the resistance alleles derived from ‘Bk7’. Both loci contain multiple classes of defense-related genes based on sequence similarity and gene ontologies. In addition, genetic analysis following an independent selection experiment of lines derived from a cross between ‘Bk7’ and sweet sorghum ‘Mer81-4’ narrowed the resistance locus on chromosome 9 substantially, validating this QTL. As observed in other species, sorghum appears to have regions of clustered resistance genes. Further characterization of these regions will facilitate the development of novel germplasm with resistance to anthracnose and other diseases.

  8. Application of Volatile Antifungal Plant Essential Oils for Controlling Pepper Fruit Anthracnose by Colletotrichum gloeosporioides

    PubMed Central

    Hong, Jeum Kyu; Yang, Hye Ji; Jung, Heesoo; Yoon, Dong June; Sang, Mee Kyung; Jeun, Yong-Chull

    2015-01-01

    Anthracnose caused by Colletotrichum gloeosporioides has been destructive during pepper fruit production in outdoor fields in Korea. In vitro antifungal activities of 15 different plant essential oils or its components were evaluated during conidial germination and mycelial growth of C. gloeosporioides. In vitro conidial germination was most drastically inhibited by vapour treatments with carvacrol, cinnamon oil, trans-cinnamaldehyde, citral, p-cymene and linalool. Inhibition of the mycelial growth by indirect vapour treatment with essential oils was also demonstrated compared with untreated control. Carvacrol, cinnamon oil, trans-cinnamaldehyde, citral and eugenol were among the most inhibitory plant essential oils by the indirect antifungal efficacies. Plant protection efficacies of the plant essential oils were demonstrated by reduced lesion diameter on the C. gloeosporioides-inoculated immature green pepper fruits compared to the inoculated control fruits without any plant essential oil treatment. In planta test showed that all plant essential oils tested in this study demonstrated plant protection efficacies against pepper fruit anthracnose with similar levels. Thus, application of different plant essential oils can be used for eco-friendly disease management of anthracnose during pepper fruit production. PMID:26361475

  9. [Does vaccination cause disease?].

    PubMed

    Zingg, W

    2005-10-01

    Not many inventions in medical history have influenced our society as much as vaccination. The concept is old and simple. When Edward Jenner published his work on cowpox, "variolation" was quite common. In this procedure, pus of patients with mild smallpox was transferred to healthy individuals. Meanwhile smallpox has been eradicated worldwide. Diseases such as poliomyelitis, diphtheria or tetanus almost disappeared in industrialized countries. The same happened with epiglottitis and meningitis due to Haemophilus influenzae type b (Hib) after vaccination against Hib was introduced in Switzerland in 1990. This success was possible because of routine vaccination. Immunization is a save procedure and adverse events are much lower than complications in the natural course of the prevented diseases. However vaccinations were accused to cause diseases themselves such as asthma, multiple sclerosis, diabetes mellitus, chronic arthritis or autism. Hitherto no large cohort study or case-control-study was able to proof responsibility of vaccines in any of these diseases. Public media are eager to publish early data from surveillance reports or case reports which are descriptive and never a principle of cause and effect. In large controlled trials there was no proof that vaccination causes asthma, hepatitis-B-vaccination causes multiple sclerosis or macrophagic myofasciitis, Hib-vaccination causes diabetes mellitus, rubella-vaccination causes chronic arthritis, measles-mumps-rubella-vaccination causes gait disturbance or thiomersal causes autism. These results are rarely published in newspapers or television. Thus, many caring parents are left with negative ideas about immunization. Looking for the best for their children they withhold vaccination and give way to resurgence of preventable diseases in our communities. This must be prevented. There is more evidence than expected that vaccination is safe and this can and must be told to parents.

  10. Anthracnose field evaluation of sorghum germplasm from Botswana

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sorghum anthracnose is a disease of worldwide importance and host-plant resistance is the most practical method of disease management. In this study, 154 sorghum accessions from the Botswana collection maintained by the United States National Plant Germplasm System were inoculated with Colletotrich...

  11. Antagonistic Activities of Bacillus spp. Strains Isolated from Tidal Flat Sediment Towards Anthracnose Pathogens Colletotrichum acutatum and C. gloeosporioides in South Korea

    PubMed Central

    Han, Joon-Hee; Shim, Hongsik; Shin, Jong-Hwan; Kim, Kyoung Su

    2015-01-01

    Anthracnose is a fungal disease caused by Colletotrichum species that is detrimental to numerous plant species. Anthracnose control with fungicides has both human health and environmental safety implications. Despite increasing public concerns, fungicide use will continue in the absence of viable alternatives. There have been relatively less efforts to search antagonistic bacteria from mudflats harboring microbial diversity. A total of 420 bacterial strains were isolated from mudflats near the western sea of South Korea. Five bacterial strains, LB01, LB14, HM03, HM17, and LB15, were characterized as having antifungal properties in the presence of C. acutatum and C. gloeosporioides. The three Bacillus atrophaeus strains, LB14, HM03, and HM17, produced large quantities of chitinase and protease enzymes, whereas the B. amyloliquefaciens strain LB01 produced protease and cellulase enzymes. Two important antagonistic traits, siderophore production and solubilization of insoluble phosphate, were observed in the three B. atrophaeus strains. Analyses of disease suppression revealed that LB14 was most effective for suppressing the incidence of anthracnose symptoms on pepper fruits. LB14 produced antagonistic compounds and suppressed conidial germination of C. acutatum and C. gloeosporioides. The results from the present study will provide a basis for developing a reliable alternative to fungicides for anthracnose control. PMID:26060435

  12. Antagonistic Activities of Bacillus spp. Strains Isolated from Tidal Flat Sediment Towards Anthracnose Pathogens Colletotrichum acutatum and C. gloeosporioides in South Korea.

    PubMed

    Han, Joon-Hee; Shim, Hongsik; Shin, Jong-Hwan; Kim, Kyoung Su

    2015-06-01

    Anthracnose is a fungal disease caused by Colletotrichum species that is detrimental to numerous plant species. Anthracnose control with fungicides has both human health and environmental safety implications. Despite increasing public concerns, fungicide use will continue in the absence of viable alternatives. There have been relatively less efforts to search antagonistic bacteria from mudflats harboring microbial diversity. A total of 420 bacterial strains were isolated from mudflats near the western sea of South Korea. Five bacterial strains, LB01, LB14, HM03, HM17, and LB15, were characterized as having antifungal properties in the presence of C. acutatum and C. gloeosporioides. The three Bacillus atrophaeus strains, LB14, HM03, and HM17, produced large quantities of chitinase and protease enzymes, whereas the B. amyloliquefaciens strain LB01 produced protease and cellulase enzymes. Two important antagonistic traits, siderophore production and solubilization of insoluble phosphate, were observed in the three B. atrophaeus strains. Analyses of disease suppression revealed that LB14 was most effective for suppressing the incidence of anthracnose symptoms on pepper fruits. LB14 produced antagonistic compounds and suppressed conidial germination of C. acutatum and C. gloeosporioides. The results from the present study will provide a basis for developing a reliable alternative to fungicides for anthracnose control.

  13. What Causes Coronary Microvascular Disease?

    MedlinePlus

    ... Living With Clinical Trials Links Related Topics Angina Atherosclerosis Coronary Heart Disease Coronary Heart Disease Risk Factors ... Microvascular Disease? The same risk factors that cause atherosclerosis may cause coronary microvascular disease. Atherosclerosis is a ...

  14. Particles causing lung disease.

    PubMed Central

    Kilburn, K H

    1984-01-01

    The lung has a limited number of patterns of reaction to inhaled particles. The disease observed depends upon the location: conducting airways, terminal bronchioles and alveoli, and upon the nature of inflammation induced: acute, subacute or chronic. Many different agents cause narrowing of conducting airways (asthma) and some of these cause permanent distortion or obliteration of airways as well. Terminal bronchioles appear to be particularly susceptible to particles which cause goblet cell metaplasia, mucous plugging and ultimately peribronchiolar fibrosis. Cancer is the last outcome at the bronchial level and appears to depend upon continuous exposure to or retention of an agent in the airway and failure of the affected cells to be exfoliated which may be due to squamous metaplasia. Alveoli are populated by endothelial cells, Type I or pavement epithelial cells and metabolically active cuboidal Type II cells that produce the lungs specific surfactant, dipalmytol lecithin. Disturbances of surfactant lead to edema in distal lung while laryngeal edema due to anaphylaxis or fumes may produce asphyxia. Physical retention of indigestible particles or retention by immune memory responses may provoke hyaline membranes, stimulate alveolar lipoproteinosis and finally fibrosis. This later exuberant deposition of connective tissue has been best studied in the occupational pneumoconioses especially silicosis and asbestosis. In contrast emphysema a catabolic response, appears frequently to result from leakage or release of lysosomal proteases into the lung during processing of cigarette smoke particles. The insidious and probably most important human lung disease due to particles is bronchiolar obstruction and obliteration, producing progressive impairment of air flow. The responsible particle is the complex combination of poorly digestive lipids and complex carbohydrates with active chemicals which we call cigarette smoke. More research is needed to perfect, correct and

  15. Particles causing lung disease

    SciTech Connect

    Kilburn, K.H.

    1984-04-01

    The lung has a limited number of patterns of reaction to inhaled particles. The disease observed depends upon the location: conducting airways, terminal bronchioles and alveoli, and upon the nature of inflammation induced: acute, subacute or chronic. Many different agents cause narrowing of conducting airways (asthma) and some of these cause permanent distortion or obliteration of airways as well. Terminal bronchioles appear to be particularly susceptible to particles which cause goblet cell metaplasia, mucous plugging and ultimately peribronchiolar fibrosis. Cancer is the last outcome at the bronchial level and appears to depend upon continuous exposure to or retention of an agent in the airway and failure of the affected cells to be exfoliated which may be due to squamous metaplasia. Alveoli are populated by endothelial cells, Type I or pavement epithelial cells and metabolically active cuboidal Type II cells that produce the lungs specific surfactant, dipalmytol lecithin. Disturbances of surfactant lead to edema in distal lung while laryngeal edema due to anaphylaxis or fumes may produce asphyxia. Physical retention of indigestible particles or retention by immune memory responses may provoke hyaline membranes, stimulate alveolar lipoproteinosis and finally fibrosis. This later exuberant deposition of connective tissue has been best studied in the occupational pneumoconioses especially silicosis and asbestosis. In contrast emphysema a catabolic response appears frequently to result from leakage or release of lysosomal proteases into the lung during processing of cigarette smoke particles. 164 references, 1 figure, 2 tables.

  16. Optimal control of anthracnose using mixed strategies.

    PubMed

    Fotsa Mbogne, David Jaures; Thron, Christopher

    2015-11-01

    In this paper we propose and study a spatial diffusion model for the control of anthracnose disease in a bounded domain. The model is a generalization of the one previously developed in [15]. We use the model to simulate two different types of control strategies against anthracnose disease. Strategies that employ chemical fungicides are modeled using a continuous control function; while strategies that rely on cultivational practices (such as pruning and removal of mummified fruits) are modeled with a control function which is discrete in time (though not in space). For comparative purposes, we perform our analyses for a spatially-averaged model as well as the space-dependent diffusion model. Under weak smoothness conditions on parameters we demonstrate the well-posedness of both models by verifying existence and uniqueness of the solution for the growth inhibition rate for given initial conditions. We also show that the set [0, 1] is positively invariant. We first study control by impulsive strategies, then analyze the simultaneous use of mixed continuous and pulse strategies. In each case we specify a cost functional to be minimized, and we demonstrate the existence of optimal control strategies. In the case of pulse-only strategies, we provide explicit algorithms for finding the optimal control strategies for both the spatially-averaged model and the space-dependent model. We verify the algorithms for both models via simulation, and discuss properties of the optimal solutions.

  17. What Causes Sickle Cell Disease?

    MedlinePlus

    ... from the NHLBI on Twitter. What Causes Sickle Cell Disease? Abnormal hemoglobin, called hemoglobin S , causes sickle cell ... that hemoglobin works. ( See Overview. ) How Is Sickle Cell Disease Inherited? When the hemoglobin S gene is inherited ...

  18. What Causes Heart Valve Disease?

    MedlinePlus

    ... page from the NHLBI on Twitter. What Causes Heart Valve Disease? Heart conditions and other disorders, age-related changes, ... valve disease. Other Conditions and Factors Linked to Heart Valve Disease Many other conditions and factors are linked to ...

  19. Genome-Wide Association Study of Anthracnose Resistance in Andean Beans (Phaseolus vulgaris)

    PubMed Central

    Zuiderveen, Grady H.; Padder, Bilal A.; Kamfwa, Kelvin; Song, Qijian; Kelly, James D.

    2016-01-01

    Anthracnose is a seed-borne disease of common bean (Phaseolus vulgaris L.) caused by the fungus Colletotrichum lindemuthianum, and the pathogen is cosmopolitan in distribution. The objectives of this study were to identify new sources of anthracnose resistance in a diverse panel of 230 Andean beans comprised of multiple seed types and market classes from the Americas, Africa, and Europe, and explore the genetic basis of this resistance using genome-wide association mapping analysis (GWAS). Twenty-eight of the 230 lines tested were resistant to six out of the eight races screened, but only one cultivar Uyole98 was resistant to all eight races (7, 39, 55, 65, 73, 109, 2047, and 3481) included in the study. Outputs from the GWAS indicated major quantitative trait loci (QTL) for resistance on chromosomes, Pv01, Pv02, and Pv04 and two minor QTL on Pv10 and Pv11. Candidate genes associated with the significant SNPs were detected on all five chromosomes. An independent QTL study was conducted to confirm the physical location of the Co-1 locus identified on Pv01 in an F4:6 recombinant inbred line (RIL) population. Resistance was determined to be conditioned by the single dominant gene Co-1 that mapped between 50.16 and 50.30 Mb on Pv01, and an InDel marker (NDSU_IND_1_50.2219) tightly linked to the gene was developed. The information reported will provide breeders with new and diverse sources of resistance and genomic regions to target in the development of anthracnose resistance in Andean beans. PMID:27270627

  20. Causes of Alzheimer's disease

    PubMed Central

    Munoz, D G; Feldman, H

    2000-01-01

    It is now understood that genetic factors play a crucial role in the risk of developing Alzheimer's disease (AD). Rare mutations in at least 3 genes are responsible for early-onset familial AD. A common polymorphism in the apolipoprotein E gene is the major determinant of risk in families with late-onset AD, as well as in the general population. Advanced age, however, remains the major established risk factor for AD, although environmental variables may also have some role in disease expression. Some pathogenic factors directly associated with aging include oxidative damage and mutations in messenger RNA. Other factors unrelated to the aging process may, in the future, be amenable to therapeutic intervention by way of estrogen replacement therapy for postmenopausal women, anti-inflammatory drug therapy and reducing vascular risk factors. Older theories, such as aluminum playing a role in the pathogenesis of AD, have been mostly discarded as our understanding of pathogenic mechanisms of AD has advanced. PMID:11216203

  1. Addison's Disease: Symptoms and Causes

    MedlinePlus

    ... these problems. Causes Addison's disease results when your adrenal glands are damaged, producing insufficient amounts of the hormone ... every organ and tissue in your body. Your adrenal glands are composed of two sections. The interior (medulla) ...

  2. Inheritance and molecular mapping of anthracnose resistance gene present in the differential line PI533918

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Anthracnose (Collectrotichum sublineolum) is considered one of the most destructive diseases of sorghum (Sorghum bicolor L. Moench) because it infects all aerial tissues of the plant. The best strategy to control the disease is the incorporation of resistance genes. At present, eighteen sorghum line...

  3. Colletotrichum gloeosporioides, causing anthracnose of mile-a-minute (Persicaria perfoliata) in Turkey, is a potential biological control agent of this weed in the U.S.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mile-a-minute (Persicaria perfoliata (L.) H. Gross; family Polygonaceae) is an exotic annual barbed vine that has invaded the northeastern USA, Mississippi, and Oregon. In July of 2010, in a search for potential biological control pathogens, diseased P. perfoliata plants were found along the Firtina...

  4. Reaction of sorghum hybrids to anthracnose, grain mold and grain weathering in Burleson County, Texas, 2007

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Thirty commercial hybrids were evaluated for resistance against anthracnose, caused by Colletotrichum sublineolum and grain mold or grain weathering caused by a number of fungal species at the Texas A&M University Agricultural Experiment Station in College Station (Burleson County). Six hybrids wer...

  5. Disease Outbreaks Caused by Water.

    ERIC Educational Resources Information Center

    Craun, Gunther F.

    1978-01-01

    Presents a literature review of the disease outbreaks caused by drinking polluted water, covering publications of 1976-77. Some of the waterborn outbreaks included are: (1) cholera; (2) gastroenteritis; (3) giardiasis; and (4) typhoid fever and salmonellosis. A list of 66 references is also presented. (HM)

  6. Trypanosomatid parasites causing neglected diseases.

    PubMed

    Nussbaum, K; Honek, J; Cadmus, C M C v C; Efferth, T

    2010-01-01

    Parasitic diseases such as Kala azar (visceral leishmaniasis), Chagas disease human (American trypanosomiasis) and African sleeping sickness (African trypanosomiasis) are affecting more than 27 million people worldwide. They are categorized amongst the most important neglected diseases causing approximately 150,000 deaths annually. As no vaccination is available, treatment is solely dependent on chemotherapeutic drugs. This review provides a comprehensive insight into the treatment of Kala azar, Chagas disease and African sleeping sickness. In addition to established drugs, novel small molecule- based therapeutic approaches are discussed. Drugs currently used for the treatment of Kala azar include pentavalent antimonials, Amphotericin B, Miltefosine, and Paromomycin. Liposomal formulations such as AmBisome provide promising alternatives. Furthermore, antiproliferative compounds might open new avenues in Kala azar treatment. Regarding Chagas disease, chemotherapy is based on two drugs, Nifurtimox and Benznidazole. However, sequencing of T. cruzi genome in the year 2005 raises a hope for new drug targets. Proteases, sterols and sialic acids are potential promising drug targets. Suramin, Pentamidine, Melarsporol and Eflornithine are well-established drugs to treat African sleeping sickness. New treatment options include combination therapy of Eflornithine and Nifurtimox, a Chagas disease therapeutic.. However, all approved chemotherapeutic compounds for trypanosomatid diseases suffer from high toxicity. Further, increasing resistance limits their efficacy and compliance.

  7. Assessing the vulnerability of sorghum converted lines to anthracnose and downy mildew infection

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A total of 59 converted sorghum lines and six checks were evaluated for resistance to two foliar fungal diseases, anthracnose and downy mildew (SDM) in 2008 and 2009 growing seasons at the Texas A&M AgriLife Research Farm, College Station, Texas. In 2008, 23 lines exhibited resistance (35%), 29 sus...

  8. Phylogeny and taxonomy of the scab and spot anthracnose fungus Elsinoë (Myriangiales, Dothideomycetes).

    PubMed

    Fan, X L; Barreto, R W; Groenewald, J Z; Bezerra, J D P; Pereira, O L; Cheewangkoon, R; Mostert, L; Tian, C M; Crous, P W

    2017-06-01

    Species of Elsinoë are phytopathogens causing scab and spot anthracnose on many plants, including some economically important crops such as avocado, citrus, grapevines, and ornamentals such as poinsettias, field crops and woody hosts. Disease symptoms are often easily recognisable, and referred to as signature-bearing diseases, for the cork-like appearance of older infected tissues with scab-like appearance. In some Elsinoë-host associations the resulting symptoms are better described as spot anthracnose. Additionally the infected plants may also show mild to severe distortions of infected organs. Isolation of Elsinoë in pure culture can be very challenging and examination of specimens collected in the field is often frustrating because of the lack of fertile structures. Current criteria for species recognition and host specificity in Elsinoë are unclear due to overlapping morphological characteristics, and the lack of molecular and pathogenicity data. In the present study we revised the taxonomy of Elsinoë based on DNA sequence and morphological data derived from 119 isolates, representing 67 host genera from 17 countries, including 64 ex-type cultures. Combined analyses of ITS, LSU, rpb2 and TEF1-α DNA sequence data were used to reconstruct the backbone phylogeny of the genus Elsinoë. Based on the single nomenclature for fungi, 26 new combinations are proposed in Elsinoë for species that were originally described in Sphaceloma. A total of 13 species are epitypified with notes on their taxonomy and phylogeny. A further eight new species are introduced, leading to a total of 75 Elsinoë species supported by molecular data in the present study. For the most part species of Elsinoë appear to be host specific, although the majority of the species treated are known only from a few isolates, and further collections and pathogenicity studies will be required to reconfirm this conclusion.

  9. Evaluation of Pseudomonas syringae Strain ESC11 for Biocontrol of Crown Rot and Anthracnose of Banana

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Pseudomonas syringae strain ESC11, and 250 'g/ml each of thiabendazole (TBZ) and imazalil reduced crown rot of banana caused by a Fusarium sp. by 0-88% and 73-88%, respectively, in laboratory experiments. ESC11 alone did not significantly reduce rot, mold, or anthracnose in most field trials. TBZ an...

  10. Immunodeficiencies caused by infectious diseases.

    PubMed

    Sykes, Jane E

    2010-05-01

    Immunodeficiencies caused by infectious agents may result from disruption of normal host barriers or dysregulation of cellular immunity, the latter serving to promote survival of the infectious agent through immune evasion. Such infections may be followed by opportunistic infections with a variety of other microorganisms. Classic infectious causes of immunodeficiency in companion animals are the immunodeficiency retroviruses, including feline immunodeficiency virus and feline leukemia virus. Other important causes include canine distemper virus; canine parvovirus 2; feline infectious peritonitis virus; rickettsial organisms that infect leukocytes; Leishmania; and fungal pathogens, such as Cryptococcus. Considerable research effort has been invested in understanding the mechanisms of pathogen-induced immunosuppression, with the hope that effective therapies may be developed that reverse the immunodeficiencies developed and in turn assist the host to clear persistent or life-threatening infectious diseases.

  11. Genetic differentiation of Colletotrichum gloeosporioides and C. truncatum associated with Anthracnose disease of papaya (Carica papaya L.) and bell pepper (Capsium annuum L.) based on ITS PCR-RFLP fingerprinting.

    PubMed

    Maharaj, Ariana; Rampersad, Sephra N

    2012-03-01

    Members of the genus Colletotrichum include some of the most economically important fungal pathogens in the world. Accurate diagnosis is critical to devising disease management strategies. Two species, Colletotrichum gloeosporioides and C. truncatum, are responsible for anthracnose disease in papaya (Carica papaya L.) and bell pepper (Capsicum annuum L.) in Trinidad. The ITS1-5.8S-ITS2 region of 48 Colletotrichum isolates was sequenced, and the ITS PCR products were analyzed by PCR-RFLP analysis. Restriction site polymorphisms generated from 11 restriction enzymes enabled the identification of specific enzymes that were successful in distinguishing between C. gloeosporioides and C. truncatum isolates. Species-specific restriction fragment length polymorphisms generated by the enzymes AluI, HaeIII, PvuII, RsaI, and Sau3A were used to consistently resolve C. gloeosporioides and C. truncatum isolates from papaya. AluI, ApaI, PvuII, RsaI, and SmaI reliably separated isolates of C. gloeosporioides and C. truncatum from bell pepper. PvuII, RsaI, and Sau3A were also capable of distinguishing among the C. gloeosporioides isolates from papaya based on the different restriction patterns that were obtained as a result of intra-specific variation in restriction enzyme recognition sites in the ITS1-5.8S-ITS2 rDNA region. Of all the isolates tested, C. gloeosporioides from papaya also had the highest number of PCR-RFLP haplotypes. Cluster analysis of sequence and PCR-RFLP data demonstrated that all C. gloeosporioides and C. truncatum isolates clustered separately into species-specific clades regardless of host species. Phylograms also revealed consistent topologies which suggested that the genetic distances for PCR-RFLP-generated data were comparable to that of ITS sequence data. ITS PCR-RFLP fingerprinting is a rapid and reliable method to identify and differentiate between Colletotrichum species.

  12. Genome-Wide Association Studies of Anthracnose and Angular Leaf Spot Resistance in Common Bean (Phaseolus vulgaris L.)

    PubMed Central

    Perseguini, Juliana Morini Küpper Cardoso; Oblessuc, Paula Rodrigues; Rosa, João Ricardo Bachega Feijó; Gomes, Kleber Alves; Chiorato, Alisson Fernando; Carbonell, Sérgio Augusto Morais; Garcia, Antonio Augusto Franco; Vianello, Rosana Pereira; Benchimol-Reis, Luciana Lasry

    2016-01-01

    The common bean (Phaseolus vulgaris L.) is the world’s most important legume for human consumption. Anthracnose (ANT; Colletotrichum lindemuthianum) and angular leaf spot (ALS; Pseudocercospora griseola) are complex diseases that cause major yield losses in common bean. Depending on the cultivar and environmental conditions, anthracnose and angular leaf spot infections can reduce crop yield drastically. This study aimed to estimate linkage disequilibrium levels and identify quantitative resistance loci (QRL) controlling resistance to both ANT and ALS diseases of 180 accessions of common bean using genome-wide association analysis. A randomized complete block design with four replicates was performed for the ANT and ALS experiments, with four plants per genotype in each replicate. Association mapping analyses were performed for ANT and ALS using a mixed linear model approach implemented in TASSEL. A total of 17 and 11 significant statistically associations involving SSRs were detected for ANT and ALS resistance loci, respectively. Using SNPs, 21 and 17 significant statistically associations were obtained for ANT and angular ALS, respectively, providing more associations with this marker. The SSR-IAC167 and PvM95 markers, both located on chromosome Pv03, and the SNP scaffold00021_89379, were associated with both diseases. The other markers were distributed across the entire common bean genome, with chromosomes Pv03 and Pv08 showing the greatest number of loci associated with ANT resistance. The chromosome Pv04 was the most saturated one, with six markers associated with ALS resistance. The telomeric region of this chromosome showed four markers located between approximately 2.5 Mb and 4.4 Mb. Our results demonstrate the great potential of genome-wide association studies to identify QRLs related to ANT and ALS in common bean. The results indicate a quantitative and complex inheritance pattern for both diseases in common bean. Our findings will contribute to more

  13. Genome-Wide Association Studies of Anthracnose and Angular Leaf Spot Resistance in Common Bean (Phaseolus vulgaris L.).

    PubMed

    Perseguini, Juliana Morini Küpper Cardoso; Oblessuc, Paula Rodrigues; Rosa, João Ricardo Bachega Feijó; Gomes, Kleber Alves; Chiorato, Alisson Fernando; Carbonell, Sérgio Augusto Morais; Garcia, Antonio Augusto Franco; Vianello, Rosana Pereira; Benchimol-Reis, Luciana Lasry

    2016-01-01

    The common bean (Phaseolus vulgaris L.) is the world's most important legume for human consumption. Anthracnose (ANT; Colletotrichum lindemuthianum) and angular leaf spot (ALS; Pseudocercospora griseola) are complex diseases that cause major yield losses in common bean. Depending on the cultivar and environmental conditions, anthracnose and angular leaf spot infections can reduce crop yield drastically. This study aimed to estimate linkage disequilibrium levels and identify quantitative resistance loci (QRL) controlling resistance to both ANT and ALS diseases of 180 accessions of common bean using genome-wide association analysis. A randomized complete block design with four replicates was performed for the ANT and ALS experiments, with four plants per genotype in each replicate. Association mapping analyses were performed for ANT and ALS using a mixed linear model approach implemented in TASSEL. A total of 17 and 11 significant statistically associations involving SSRs were detected for ANT and ALS resistance loci, respectively. Using SNPs, 21 and 17 significant statistically associations were obtained for ANT and angular ALS, respectively, providing more associations with this marker. The SSR-IAC167 and PvM95 markers, both located on chromosome Pv03, and the SNP scaffold00021_89379, were associated with both diseases. The other markers were distributed across the entire common bean genome, with chromosomes Pv03 and Pv08 showing the greatest number of loci associated with ANT resistance. The chromosome Pv04 was the most saturated one, with six markers associated with ALS resistance. The telomeric region of this chromosome showed four markers located between approximately 2.5 Mb and 4.4 Mb. Our results demonstrate the great potential of genome-wide association studies to identify QRLs related to ANT and ALS in common bean. The results indicate a quantitative and complex inheritance pattern for both diseases in common bean. Our findings will contribute to more

  14. Biocontrol of Postharvest Anthracnose of Mango Fruit with Debaryomyces Nepalensis and Effects on Storage Quality and Postharvest Physiology.

    PubMed

    Luo, Shanshan; Wan, Bin; Feng, Shuhan; Shao, Yuanzhi

    2015-11-01

    Anthracnose is presently recognized as one of the most important postharvest disease of mango worldwide. To control the disease, chemical fungicides for a long time was widely used among fruit farmers, but recently found that pathogen had developed increasingly resistance to it. With people's growing desire of healthy and green food, finding new and environmentally friendly biological control approach was very necessary. In this paper, we provided a kind of new antagonistic yeast which enriched the strain resources and the efficacy of Debaryomyces nepalensis against postharvest anthracnose of mango fruit and the influence on quality parameters were investigated. The results showed that the decay incidence and lesion diameter of postharvest anthracnose of mango treated by D. nepalensis were significantly reduced compared with the control fruit stored at 25 °C for 30 d or at 15 °C for 40 d, and the higher concentration of D. nepalensis was, the better the efficacy of the biocontrol was. Study also found that 1 h was the best treatment duration and antagonistic yeast inoculated earlier had good biocontrol effect on anthracnose. Meanwhile, treatment by D. nepalensis could significantly reduce postharvest anthracnose of mango, delay the decrease in firmness, TSS, TA, and ascorbic acid value, and do not impair surface color during postharvest storage. Moreover, the increase in MDA (malondialdehyde) content and increase in cell membrane permeability of fruit treated by D. nepalensis was highly inhibited. The results suggested D. nepalensis treatment could not only maintain storage quality of mango fruit, but also decrease the decay incidence to anthracnose disease. All these results indicated that D. nepalensis has great potential for development of commercial formulations to control postharvest pathogens of mango fruit.

  15. SCAR, RAPD and RFLP markers linked to a dominant gene (Are) conferring resistance to anthracnose in common bean.

    PubMed

    Adam-Blondon, A F; Sévignac, M; Bannerot, H; Dron, M

    1994-08-01

    Anthracnose, caused by the fungusColletotrichum lindemuthianum, is a severe disease of common bean (Phaseolus vulgaris L.) controlled, in Europe, by a single dominant gene,Are. Four pairs of near-isogenic lines (NILs) were constructed, in which theAre gene was introgressed into different genetic backgrounds. These pairs of NILs were used to search for DNA markers linked to the resistance gene. Nine molecular markers, five RAPDs and four RFLPs, were found to discriminate between the resistant and the susceptible members of these NILs. A backcross progeny of 120 individuals was analysed to map these markers in relation to theAre locus. Five out of the nine markers were shown to be linked to theAre gene within a distance of 12.0 cM. The most tightly linked, a RAPD marker, was used to generate a pair of primers that specifically amplify this RAPD (sequence characterized amplified region, SCAR).

  16. Meningococcal Disease: Causes and Transmission

    MedlinePlus

    ... known as meningococcal disease. There are five serogroups (“strains”) of Neisseria meningitidis : A, B, C, W, and ... YouTube Instagram Listen Watch RSS ABOUT About CDC Jobs Funding LEGAL Policies Privacy FOIA No Fear Act ...

  17. Waterfowl diseases: causes, prevention, and control

    USGS Publications Warehouse

    Friend, M.; Cross, D.H.

    1995-01-01

    Preventing and controlling disease in waterfowl is a difficult job. Few tools are available to deal with disease in highly mobile, unconfined animal populations, and few managers are trained and experienced in the prevention and control of avian diseases. Furthermore, the geographic distribution, frequency of occurrence, magnitude of losses, and causes of diseases in waterfowl, as in other life forms, change over time. Waterfowl mortality from infectious diseases, for example, has increased in the past 20 years (Friend 1992).

  18. Candidate Gene Identification with SNP Marker-Based Fine Mapping of Anthracnose Resistance Gene Co-4 in Common Bean

    PubMed Central

    Burt, Andrew J.; William, H. Manilal; Perry, Gregory; Khanal, Raja; Pauls, K. Peter; Kelly, James D.; Navabi, Alireza

    2015-01-01

    Anthracnose, caused by Colletotrichum lindemuthianum, is an important fungal disease of common bean (Phaseolus vulgaris). Alleles at the Co–4 locus confer resistance to a number of races of C. lindemuthianum. A population of 94 F4:5 recombinant inbred lines of a cross between resistant black bean genotype B09197 and susceptible navy bean cultivar Nautica was used to identify markers associated with resistance in bean chromosome 8 (Pv08) where Co–4 is localized. Three SCAR markers with known linkage to Co–4 and a panel of single nucleotide markers were used for genotyping. A refined physical region on Pv08 with significant association with anthracnose resistance identified by markers was used in BLAST searches with the genomic sequence of common bean accession G19833. Thirty two unique annotated candidate genes were identified that spanned a physical region of 936.46 kb. A majority of the annotated genes identified had functional similarity to leucine rich repeats/receptor like kinase domains. Three annotated genes had similarity to 1, 3-β-glucanase domains. There were sequence similarities between some of the annotated genes found in the study and the genes associated with phosphoinositide-specific phosphilipases C associated with Co-x and the COK–4 loci found in previous studies. It is possible that the Co–4 locus is structured as a group of genes with functional domains dominated by protein tyrosine kinase along with leucine rich repeats/nucleotide binding site, phosphilipases C as well as β-glucanases. PMID:26431031

  19. [Revealing the chemical changes of tea cell wall induced by anthracnose with confocal Raman microscopy].

    PubMed

    Li, Xiao-li; Luo, Liu-bin; Hu, Xiao-qian; Lou, Bing-gan; He, Yong

    2014-06-01

    Healthy tea and tea infected by anthracnose were first studied by confocal Raman microscopy to illustrate chemical changes of cell wall in the present paper. Firstly, Raman spectra of both healthy and infected sample tissues were collected with spatial resolution at micron-level, and ultrastructure of healthy and infected tea cells was got from scanning electron microscope. These results showed that there were significant changes in Raman shift and Raman intensity between healthy and infected cell walls, indicating that great differences occurred in chemical compositions of cell walls between healthy and infected samples. In details, intensities at many Raman bands which were closely associated with cellulose, pectin, esters were reduced after infection, revealing that the content of chemical compounds such as cellulose, pectin, esters was decreased after infection. Subsequently, chemical imaging of both healthy and infected tea cell walls were realized based on Raman fingerprint spectra of cellulose and microscopic spatial structure. It was found that not only the content of cellulose was reduced greatly after infection, but also the ordered structure of cellulose was destroyed by anthracnose infection. Thus, confocal Raman microscopy was shown to be a powerful tool to detect the chemical changes in cell wall of tea caused by anthracnose without any chemical treatment or staining. This research firstly applied confocal Raman microscopy in phytopathology for the study of interactive relationship between host and pathogen, and it will also open a new way for intensive study of host-pathogen at cellular level.

  20. Respiratory Diseases Caused by Coal Mine Dust

    PubMed Central

    Laney, A. Scott; Weissman, David N.

    2015-01-01

    Objective To provide an update on respiratory diseases caused by coal mine dust. Methods This article presents the results of a literature review initially performed for an International Conference on Occupational and Environmental Lung Disease held in summer 2013. Results Coal mine dust causes a spectrum of lung diseases collectively termed coal mine dust lung disease (CMDLD). These include Coal Workers’ Pneumoconiosis, silicosis, mixed dust pneumoconiosis, dust-related diffuse fibrosis (which can be mistaken for idiopathic pulmonary fibrosis), and chronic obstructive pulmonary disease. CMDLD continues to be a problem in the United States, particularly in the central Appalachian region. Treatment of CMDLD is symptomatic. Those with end-stage disease are candidates for lung transplantation. Because CMDLD cannot be cured, prevention is critical. Conclusions Coal mine dust remains a relevant occupational hazard and miners remain at risk for CMDLD. PMID:25285970

  1. [Does periodontal disease cause cardiovascular disease? Analysis of epidemiological evidences].

    PubMed

    Cunha-Cruz, Joana; Nadanovsky, Paulo

    2003-01-01

    This article reports a critical analysis of epidemiologic studies that evaluated periodontal disease as a cause of cardiovascular disease. Thirty-five studies were identified through a manual search of the special abstracts volumes of the Journal of Dental Research, as well as an electronic search on MEDLINE, LILACS, and ISI and inspection of the articles' bibliographies. Inclusion criteria were: articles in any language published between 1989 and 2000 reporting the presence or absence of an association between periodontal and cardiovascular diseases. Available studies are scarce, and interpretations are limited by potential bias and confounding. The studies analyzed (whether separately or jointly) fail to provide convincing epidemiologic evidence for a causal association between periodontal and cardiovascular diseases. Although the possibility that oral diseases can cause cardiovascular diseases cannot be discarded, until better data are available, periodontal disease should not be incriminated as a cause of cardiovascular disease.

  2. Interstitial lung disease probably caused by imipramine.

    PubMed

    Deshpande, Prasanna R; Ravi, Ranjani; Gouda, Sinddalingana; Stanley, Weena; Hande, Manjunath H

    2014-01-01

    Drugs are rarely associated with causing interstitial lung disease (ILD). We report a case of a 75-year-old woman who developed ILD after exposure to imipramine. To our knowledge, this is one of the rare cases of ILD probably caused due to imipramine. There is need to report such rare adverse effects related to ILD and drugs for better management of ILD.

  3. Mapping and Genetic Structure Analysis of the Anthracnose Resistance Locus Co-1HY in the Common Bean (Phaseolus vulgaris L.)

    PubMed Central

    Wang, Lanfen; Mantri, Nitin; Zhang, Xiaoyan; Zhu, Zhendong; Wang, Shumin

    2017-01-01

    Anthracnose is a destructive disease of the common bean (Phaseolus vulgaris L.). The Andean cultivar Hongyundou has been demonstrated to possess strong resistance to anthracnose race 81. To study the genetics of this resistance, the Hongyundou cultivar was crossed with a susceptible genotype Jingdou. Segregation of resistance for race 81 was assessed in the F2 population and F2:3 lines under controlled conditions. Results indicate that Hongyundou carries a single dominant gene for anthracnose resistance. An allele test by crossing Hongyundou with another resistant cultivar revealed that the resistance gene is in the Co-1 locus (therefore named Co-1HY). The physical distance between this locus and the two flanking markers was 46 kb, and this region included four candidate genes, namely, Phvul.001G243500, Phvul.001G243600, Phvul.001G243700 and Phvul.001G243800. These candidate genes encoded serine/threonine-protein kinases. Expression analysis of the four candidate genes in the resistant and susceptible cultivars under control condition and inoculated treatment revealed that all the four candidate genes are expressed at significantly higher levels in the resistant genotype than in susceptible genotype. Phvul.001G243600 and Phvul.001G243700 are expressed nearly 15-fold and 90-fold higher in the resistant genotype than in the susceptible parent before inoculation, respectively. Four candidate genes will provide useful information for further research into the resistance mechanism of anthracnose in common bean. The closely linked flanking markers identified here may be useful for transferring the resistance allele Co-1HY from Hongyundou to elite anthracnose susceptible common bean lines. PMID:28076395

  4. Assessment of sorghum germplasm from Burkina Faso and South Africa to identify new sources of resistance to grain mold and anthracnose

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sorghum is an important worldwide crop whose yield can be significantly reduced by anthracnose (Colletotrichum sublineola) and grain mold diseases (multiple fungi). The identification of new genetic sources of resistance to both diseases is imperative for the development of new sorghum varieties. T...

  5. Massive Hemoptysis Caused by Atypical Behcet's Disease

    PubMed Central

    Lee, Won-Young; Hoon, Choi Se

    2014-01-01

    Pulmonary and/or bronchial aneurysm with systemic thrombophlebitis can be seen in the case of both Behcet's disease and Hughes-Stovin syndrome. These two diseases may be indistinguishable since the clinical, radiological, and histopathological findings are similar in both cases. In particular, from the perspective of pulmonary involvement, hemoptysis is the leading cause of death in both conditions and is followed by aneurysmal rupture. Here, we report a case in which surgical resection was performed for a patient presenting recurrent hemoptysis as an atypical presentation of Behcet's disease. PMID:24782975

  6. Legionnaires' disease caused by Legionella londiniensis.

    PubMed

    Stallworth, Christina; Steed, Lisa; Fisher, Mark A; Nolte, Frederick S

    2012-12-01

    Legionella londiniensis has been isolated from aqueous environments. However, to our knowledge, this organism has never been isolated from clinical specimens. A case of Legionnaires' disease in a hematopoietic stem cell transplant recipient caused by this organism is described, which confirms that L. londiniensis can be an opportunistic pathogen.

  7. Legionnaires' Disease Caused by Legionella londiniensis

    PubMed Central

    Stallworth, Christina; Steed, Lisa; Fisher, Mark A.

    2012-01-01

    Legionella londiniensis has been isolated from aqueous environments. However, to our knowledge, this organism has never been isolated from clinical specimens. A case of Legionnaires' disease in a hematopoietic stem cell transplant recipient caused by this organism is described, which confirms that L. londiniensis can be an opportunistic pathogen. PMID:23052303

  8. Endocrine causes of nonalcoholic fatty liver disease

    PubMed Central

    Marino, Laura; Jornayvaz, François R

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the industrialized world. The prevalence of NAFLD is increasing, becoming a substantial public health burden. NAFLD includes a broad spectrum of disorders, from simple conditions such as steatosis to severe manifestations such as fibrosis and cirrhosis. The relationship of NAFLD with metabolic alterations such as type 2 diabetes is well described and related to insulin resistance, with NAFLD being recognized as the hepatic manifestation of metabolic syndrome. However, NAFLD may also coincide with endocrine diseases such as polycystic ovary syndrome, hypothyroidism, growth hormone deficiency or hypercortisolism. It is therefore essential to remember, when discovering altered liver enzymes or hepatic steatosis on radiological exams, that endocrine diseases can cause NAFLD. Indeed, the overall prognosis of NAFLD may be modified by treatment of the underlying endocrine pathology. In this review, we will discuss endocrine diseases that can cause NALFD. Underlying pathophysiological mechanisms will be presented and specific treatments will be reviewed. PMID:26494962

  9. [Epidemiology and causes of Parkinson's disease].

    PubMed

    Lill, C M; Klein, C

    2017-03-13

    Parkinson's disease (PD) is the second most common neurodegenerative disease and has a growing socioeconomic impact due to demographic changes in the industrial nations. There are several forms of PD, a fraction of which (<5%) are monogenic, i. e. caused by mutations in single genes. At present, six genes have been established for the clinically classical form of parkinsonism including three autosomal dominantly (SNCA, LRRK2, VPS35) and three autosomal recessively inherited ones (Parkin, PINK1, DJ-1). In addition, there are a plethora of genes causing atypical forms of parkinsonism. In contrast, idiopathic PD is of a multifactorial nature. Genome-wide association studies have established a total of 26 genetic loci for this form of the disease; however, for most of these loci the underlying functional genetic variants have not yet been identified and the respective disease mechanisms remain unresolved. Furthermore, there are a number of environmental and life style factors that are associated with idiopathic PD. Exposure to pesticides and possibly a history of head trauma represent genuine risk factors. Other PD-associated factors, such as smoking and intake of coffee and alcohol may not represent risk factors per se and the cause-effect relationship has not yet been elucidated for most of these factors. A patient with a positive family history and/or an early age of disease onset should undergo counseling with respect to a possible monogenic form of the disease. Disease prediction based on genetic, environmental and life style factors is not yet possible for idiopathic PD and potential gene-specific therapies are currently in the development or early testing phase.

  10. Characterisation of Colletotrichum Species Associated with Anthracnose of Banana

    PubMed Central

    Zakaria, Latiffah; Sahak, Shamsiah; Zakaria, Maziah; Salleh, Baharuddin

    2009-01-01

    A total of 13 Colletotrichum isolates were obtained from different banana cultivars (Musa spp.) with symptoms of anthracnose. Colletotrichum isolates from anthracnose of guava (Psidium guajava) and water apple (Syzygium aqueum) were also included in this study. Based on cultural and morphological characteristics, isolates from banana and guava were identified as Colletotrichum musae and from water apple as Colletotrichum gloeosporiodes. Isolates of C. musae from banana and guava had similar banding patterns in a randomly amplified polymorphic DNA (RAPD) analysis with four random primers, and they clustered together in a UPGMA analysis. C. gloeosporiodes from water apple was clustered in a separate cluster. Based on the present study, C. musae was frequently isolated from anthracnose of different banana cultivars and the RAPD banding patterns of C. musae isolates were highly similar but showed intraspecific variations. PMID:24575184

  11. Transcriptome Analysis of an Anthracnose-Resistant Tea Plant Cultivar Reveals Genes Associated with Resistance to Colletotrichum camelliae

    PubMed Central

    Wang, Lu; Wang, Yuchun; Cao, Hongli; Hao, Xinyuan; Zeng, Jianming; Yang, Yajun; Wang, Xinchao

    2016-01-01

    Tea plant breeding is a topic of great economic importance. However, disease remains a major cause of yield and quality losses. In this study, an anthracnose-resistant cultivar, ZC108, was developed. An infection assay revealed different responses to Colletotrichum sp. infection between ZC108 and its parent cultivar LJ43. ZC108 had greater resistance than LJ43 to Colletotrichum camelliae. Additionally, ZC108 exhibited earlier sprouting in the spring, as well as different leaf shape and plant architecture. Microarray data revealed that the genes that are differentially expressed between LJ43 and ZC108 mapped to secondary metabolism-related pathways, including phenylpropanoid biosynthesis, phenylalanine metabolism, and flavonoid biosynthesis pathways. In addition, genes involved in plant hormone biosynthesis and signaling as well as plant-pathogen interaction pathways were also changed. Quantitative real-time PCR was used to examine the expression of 27 selected genes in infected and uninfected tea plant leaves. Genes encoding a MADS-box transcription factor, NBS-LRR disease-resistance protein, and phenylpropanoid metabolism pathway components (CAD, CCR, POD, beta-glucosidase, ALDH and PAL) were among those differentially expressed in ZC108. PMID:26849553

  12. Characterization by Suppression Subtractive Hybridization of Transcripts That Are Differentially Expressed in Leaves of Anthracnose-Resistant Ramie Cultivar.

    PubMed

    Xuxia, Wang; Jie, Chen; Bo, Wang; Lijun, Liu; Hui, Jiang; Diluo, Tang; Dingxiang, Peng

    2012-01-01

    For the purpose of screening putative anthracnose resistance-related genes of ramie (Boehmeria nivea L. Gaud), a cDNA library was constructed by suppression subtractive hybridization using anthracnose-resistant cultivar Huazhu no. 4. The cDNAs from Huazhu no. 4, which were infected with Colletotrichum gloeosporioides, were used as the tester and cDNAs from uninfected Huazhu no. 4 as the driver. Sequencing analysis and homology searching showed that these clones represented 132 single genes, which were assigned to functional categories, including 14 putative cellular functions, according to categories established for Arabidopsis. These 132 genes included 35 disease resistance and stress tolerance-related genes including putative heat-shock protein 90, metallothionein, PR-1.2 protein, catalase gene, WRKY family genes, and proteinase inhibitor-like protein. Partial disease-related genes were further analyzed by reverse transcription PCR and RNA gel blot. These expressed sequence tags are the first anthracnose resistance-related expressed sequence tags reported in ramie.

  13. Plague pneumonia disease caused by Yersinia pestis.

    PubMed

    Cleri, D J; Vernaleo, J R; Lombardi, L J; Rabbat, M S; Mathew, A; Marton, R; Reyelt, M C

    1997-03-01

    Plague is a zoonotic infection caused by Yersina pesits, a pleomorphic, gram-negative non-spore-forming coccobacillus that is more accurately classified as a subspecies of Y pseudotuberculosis. Animal reservoirs include rodents, rabbits, and occasionally larger animals. Cats become ill and have spread pneumonic disease to man. Dogs may be a significant sentinel animal as well as a reservoir, although do not usually become ill. Flea bites commonly spread disease to man. Person to person spread has not been a recent feature until the purported outbreak of plague and plague pneumonia in India in 1994. Other factors that increase risk of infection in endemic areas are occupation-veterinarians and assistants, pet ownership, direct animal-reservoir contact especially during the hunting season, living in households with an index case, and, mild winters, cool moist springs, and early summers. Clinical presentations include subclinical plague (positive serology without disease); plague pharyngitis; pestis minor (abortive bubonic plague); bubonic plague; septicemic plague; pneumonic plague; and plague meningitis. Most prominent of plague's differential diagnosis are Reye's syndrome, other causes of lymphadenitis, bacterial pneumonias, tularemia, and acute surgical abdomen. Treatment has reduced mortality from 40-90% to 5-18%. The drug of choice (except for plague meningitis) is streptomycin, with tetracyclines being alternatives. Parenteral cholamphenicol is the treatment of choice for plague meningitis. A tetracycline should be administered as chemoprophylaxis to all contacts over the age of 8 years. Plague vaccine is available, but is only partially protective.

  14. Corals diseases are a major cause of coral death

    EPA Science Inventory

    Corals, like humans, are susceptible to diseases. Some coral diseases are associated with pathogenic bacteria; however, the causes of most remain unknown. Some diseases trigger rapid and extensive mortality, while others slowly cause localized color changes or injure coral tiss...

  15. Effects of pretreatment with simulated acid rain on the severity of dogwood anthracnose

    SciTech Connect

    Britton, K.O.; Berrang, P.; Mavity, E.

    1996-06-01

    The effects of simulated acid rain on dogwood anthracnose severity were evaluated in a series of greenhouse and field experiments over a 4-year period. In 1990 and 1991, Cornus florida seedlings received 10 weekly foliar applications of simulated rain adjusted to pH 2.5, 3.5, 4.5, and 5.5. They were then placed under mature dogwoods naturally infected with Discula destructive. In both years, the percent leaf area infected increased significantly as the pH of the simulated rain solution decreased. In 1992 and 1993, seedlings were wrapped in plastic bags below the root collar to permit separate application of simulated acid rain (pH 2.5) or normal rain (pH 5.5) to the foliage or the growing medium or both. Application of pH 2.5 rain to the growing medium increased disease severity. Foliar applications alone did not increase disease. These results suggest that changes in nutrient availability, rather than foliar damage, are responsible for the increase in anthracnose severity in dogwoods pretreated with simulated acid rain. 41 refs., 1 fig., 1 tab.

  16. Molecular Diversity of Anthracnose Pathogen Populations Associated with UK Strawberry Production Suggests Multiple Introductions of Three Different Colletotrichum Species

    PubMed Central

    Baroncelli, Riccardo; Zapparata, Antonio; Sarrocco, Sabrina; Sukno, Serenella A.; Lane, Charles R.; Thon, Michael R.; Vannacci, Giovanni; Holub, Eric; Sreenivasaprasad, Surapareddy

    2015-01-01

    Fragaria × ananassa (common name: strawberry) is a globally cultivated hybrid species belonging to Rosaceae family. Colletotrichum acutatum sensu lato (s.l.) is considered to be the second most economically important pathogen worldwide affecting strawberries. A collection of 148 Colletotrichum spp. isolates including 67 C. acutatum s.l. isolates associated with the phytosanitary history of UK strawberry production were used to characterize multi-locus genetic variation of this pathogen in the UK, relative to additional reference isolates that represent a worldwide sampling of the diversity of the fungus. The evidence indicates that three different species C. nymphaeae, C. godetiae and C. fioriniae are associated with strawberry production in the UK, which correspond to previously designated genetic groups A2, A4 and A3, respectively. Among these species, 12 distinct haplotypes were identified suggesting multiple introductions into the country. A subset of isolates was also used to compare aggressiveness in causing disease on strawberry plants and fruits. Isolates belonging to C. nymphaeae, C. godetiae and C. fioriniae representative of the UK anthracnose pathogen populations showed variation in their aggressiveness. Among the three species, C. nymphaeae and C. fioriniae appeared to be more aggressive compared to C. godetiae. This study highlights the genetic and pathogenic heterogeneity of the C. acutatum s.l. populations introduced into the UK linked to strawberry production. PMID:26086351

  17. Expression of pathogenesis-related (PR) genes in avocados fumigated with thyme oil vapours and control of anthracnose.

    PubMed

    Bill, Malick; Sivakumar, Dharini; Beukes, Mervyn; Korsten, Lise

    2016-03-01

    Thyme oil (TO) fumigation (96μll(-1)) to cv. Hass and Ryan avocados significantly reduced anthracnose incidence compared to prochloraz and the untreated control. Also, enhanced activities of β-1,3-glucanase, chitinase were noted in both cultivars. TO fumigation induced the expression of both β-1,3-glucanase and chitinase genes in naturally infected fruit of both cultivars, during storage at 7 or 7.5°C for up to 21d and during subsequent simulated market shelf conditions at 20°C for 5d. However, the impact of TO fumigation on the β-1,3-glucanase gene expression was higher in both cultivars. Higher gene regulation and β-1,3-glucanase, chitinase activities were observed in cv. Ryan compared to Hass. Although TO fumigation significantly reduced anthracnose incidence in both naturally infected cultivars, the inhibitory effect was slightly higher in cv. Ryan than Hass. Thus, postharvest TO fumigation had positive effects on enhancing anthracnose disease resistance during storage and also gave a residual effect during the simulated shelf life.

  18. Glomerular diseases: genetic causes and future therapeutics.

    PubMed

    Chiang, Chih-Kang; Inagi, Reiko

    2010-09-01

    The glomerulus consists of capillary tufts, a mesangial cell component and the Bowman capsule. The glomerular filtration barrier is composed of glomerular endothelial cells, a basement membrane, and podocytes. Particular components of the slit diaphragm and the glomerular basement membrane strictly orchestrate the integrity of the glomerular filtration barrier. The basement membrane is made of a highly crosslinked macromolecular meshwork of type IV collagen, proteoglycans, and laminin. Genetic forms of glomerular disease are predominantly caused by genetic defects in these molecular structures or in factors that regulate the glomerular filtration barrier. In addition, abnormal IgA1 glycosylation can increase susceptibility to IgA nephropathy. Dysregulation of the complement system or of platelet activation can lead to the development of endocapillary lesions, which manifest as thrombotic microangiopathy. Glomerular dysfunction is also encountered in several genetic metabolic and mitochondrial disorders. Discoveries of mutations in a range of genes have provided new insights into the mechanisms of glomerular disease. In this Review, we summarize recent progress in the genetics and therapeutics of a number of glomerular diseases.

  19. Diseases and Their Management

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Important diseases and their management practices of lentil were reviewed. The diseases reveiwed include Ascochyta blight (Ascochyta lentis), Anthracnose (Colletotrichum truncatum), White mold (Sclerotinia sclerotiorum), rust (Uromyces viciae-fabae), Botrytis gray mold (Botrytis cinerea and B. faba...

  20. Pheromones cause disease: pheromone/odourant transduction.

    PubMed

    Nicholson, B

    2001-09-01

    This paper compares two models of the sense of smell and demonstrates that the new model has advantages over the accepted model with implications for medical research. The accepted transduction model had an odourant or pheromone contacting an aqueous sensory lymph then movement through it to a receptor membrane beneath. If the odourant or pheromone were non-soluble, the odourant/pheromone supposedly would be bound to a soluble protein in the lymph to be carried across. Thus, an odourant/carrier protein complex physically moved through the receptor lymph/mucus to interact with a membrane bound receptor. After the membranous receptor interaction, the molecule would be deactivated and any odourant/pheromone-binding protein recycled. This new electrical chemosensory model being proposed here has the pheromone or other odourant generating an electrical event in the extra-cellular mucus. Before the pheromone arrives, proteins of the 'carrier class' dissolved in the receptor mucus slowly and continuously sequester ions. A sensed pheromonal chemical species sorbs to the mucus and immediately binds to the now ion-holding dissolved protein. The binding of the pheromone to the protein causes a measurable conformational change in the pheromone/odourant-binding protein, desequestering ions. Releasing the bound ions changes the potential differences across a nearby super-sensitive dendritic membrane resulting in dendrite excitation. Pheromones will be implicated in the aetiology of the infectious, psychiatric and autoimmune diseases. This is the third article in a series of twelve to systematically explore this contention (see references 1-9).

  1. Are duplicated genes responsible for anthracnose resistance in common bean?

    PubMed

    Costa, Larissa Carvalho; Nalin, Rafael Storto; Ramalho, Magno Antonio Patto; de Souza, Elaine Aparecida

    2017-01-01

    The race 65 of Colletotrichum lindemuthianum, etiologic agent of anthracnose in common bean, is distributed worldwide, having great importance in breeding programs for anthracnose resistance. Several resistance alleles have been identified promoting resistance to this race. However, the variability that has been detected within race has made it difficult to obtain cultivars with durable resistance, because cultivars may have different reactions to each strain of race 65. Thus, this work aimed at studying the resistance inheritance of common bean lines to different strains of C. lindemuthianum, race 65. We used six C. lindemuthianum strains previously characterized as belonging to the race 65 through the international set of differential cultivars of anthracnose and nine commercial cultivars, adapted to the Brazilian growing conditions and with potential ability to discriminate the variability within this race. To obtain information on the resistance inheritance related to nine commercial cultivars to six strains of race 65, these cultivars were crossed two by two in all possible combinations, resulting in 36 hybrids. Segregation in the F2 generations revealed that the resistance to each strain is conditioned by two independent genes with the same function, suggesting that they are duplicated genes, where the dominant allele promotes resistance. These results indicate that the specificity between host resistance genes and pathogen avirulence genes is not limited to races, it also occurs within strains of the same race. Further research may be carried out in order to establish if the alleles identified in these cultivars are different from those described in the literature.

  2. Are duplicated genes responsible for anthracnose resistance in common bean?

    PubMed Central

    2017-01-01

    The race 65 of Colletotrichum lindemuthianum, etiologic agent of anthracnose in common bean, is distributed worldwide, having great importance in breeding programs for anthracnose resistance. Several resistance alleles have been identified promoting resistance to this race. However, the variability that has been detected within race has made it difficult to obtain cultivars with durable resistance, because cultivars may have different reactions to each strain of race 65. Thus, this work aimed at studying the resistance inheritance of common bean lines to different strains of C. lindemuthianum, race 65. We used six C. lindemuthianum strains previously characterized as belonging to the race 65 through the international set of differential cultivars of anthracnose and nine commercial cultivars, adapted to the Brazilian growing conditions and with potential ability to discriminate the variability within this race. To obtain information on the resistance inheritance related to nine commercial cultivars to six strains of race 65, these cultivars were crossed two by two in all possible combinations, resulting in 36 hybrids. Segregation in the F2 generations revealed that the resistance to each strain is conditioned by two independent genes with the same function, suggesting that they are duplicated genes, where the dominant allele promotes resistance. These results indicate that the specificity between host resistance genes and pathogen avirulence genes is not limited to races, it also occurs within strains of the same race. Further research may be carried out in order to establish if the alleles identified in these cultivars are different from those described in the literature. PMID:28296933

  3. Plant growth-promoting fungus Penicillium spp. GP15-1 enhances growth and confers protection against damping-off and anthracnose in the cucumber.

    PubMed

    Hossain, Md Motaher; Sultana, Farjana; Miyazawa, Mitsuo; Hyakumachi, Mitsuro

    2014-01-01

    Plant growth-promoting fungi (PGPF) have the potential to confer several benefits to plants in terms of growth and protection against pests and pathogens. In the present study, we tested whether a PGPF isolate, Penicillium spp. GP15-1 (derived from zoysiagrass rhizospheres), stimulates growth and disease resistance in the cucumber plant. The use of the barley grain inoculum GP15-1 significantly enhanced root and shoot growth and biomass of cucumber plants. A root colonization study revealed that GP15-1 was a very rapid and efficient root colonizer and was isolated in significantly higher frequencies from the upper root parts than from the middle and lower root parts during the first 14 d of seedling growth. Inoculating the cucumber seedlings with GP15-1 significantly reduced the damping-off disease caused by Rhizoctonia solani, and the disease suppression effects of GP15-1 were considerably influenced by the inoculum potential of both GP15-1 and the pathogen. Treatment with the barley grain inoculum or a cell-free filtrate of GP15-1 increased systemic resistance against leaf infection by the anthracnose pathogen Colletotrichum orbiculare, resulting in a significant decrease in lesion number and size. Molecular and phylogenetic analyses of internal transcribed spacer sequences of the genomic DNA of GP15-1 revealed that the fungal isolate is a strain of either Penicillium neoechinulatum or Penicillium viridicatum.

  4. The impact of weather conditions on response of sorghum genotypes to anthracnose (Colletotrichum sublineola) infection

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Rainfall is a major climatic factor influencing anthracnose development and in this study, 68 sorghum accessions were evaluated for anthracnose resistance under dry and wet growing conditions at the Texas A&M Agricultural Experiment Station, near College Station, Texas. Accessions, planted in a ran...

  5. Invasive disease caused by nontuberculous mycobacteria, Tanzania.

    PubMed

    Crump, John A; van Ingen, Jakko; Morrissey, Anne B; Boeree, Martin J; Mavura, Daudi R; Swai, Britta; Thielman, Nathan M; Bartlett, John A; Grossman, Henning; Maro, Venance P; van Soolingen, Dick

    2009-01-01

    Data on nontuberculous mycobacterial (NTM) disease in sub-Saharan Africa are limited. During 2006-2008, we identified 3 HIV-infected patients in northern Tanzania who had invasive NTM; 2 were infected with "Mycobacterium sherrisii" and 1 with M. avium complex sequevar MAC-D. Invasive NTM disease is present in HIV-infected patients in sub-Saharan Africa.

  6. Animal Diseases Caused by Orbiviruses, Algeria

    PubMed Central

    Madani, Hafsa; Casal, Jordi; Alba, Anna; Allepuz, Alberto; Cêtre-Sossah, Catherine; Hafsi, Leila; Kount-Chareb, Houria; Bouayed-Chaouach, Nadera; Saadaoui, Hassiba

    2011-01-01

    Antibodies against bluetongue virus were detected in cattle, sheep, goats, and camels in Algeria in 2008. Antibodies against epizootic hemorrhagic disease virus were detected in cattle, but antibodies against African horse sickness virus were not detected in horses and mules. Epizootic hemorrhagic disease in northern Africa poses a major risk for the European Union. PMID:22172371

  7. DISEASE OUTBREAKS CAUSED BY DRINKING WATER

    EPA Science Inventory

    Thirty-two waterborne disease outbreaks were reported to the Centers for Disease Control (CDC) and the Environmental Protection Agency in 1981. The outbreaks occurred in 17 states and involved 4430 cases. This was only 64% of the number of outbreaks that were reported in 1980 and...

  8. SUBCHRONIC ENDOTOXIN INHALATION CAUSES PERSISTENT AIRWAY DISEASE

    EPA Science Inventory

    ABSTRACT

    The endotoxin component of organic dusts causes acute reversible airflow obstruction and airway inflammation. To test the hypothesis that endotoxin alone causes airway remodeling, we have compared the response of two inbred mouse strains to subchronic endotoxin ...

  9. Symptoms and Causes of Celiac Disease

    MedlinePlus

    ... 2016. June 2016 Share Previous: Definition & Facts Next: Diagnosis This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. ...

  10. Symptoms and Causes of Peptic Ulcer Disease

    MedlinePlus

    ... worse. November 2014 Share Previous: Definition & Facts Next: Diagnosis This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. ...

  11. For Seniors, Treatment for One Eye Disease May Cause Another

    MedlinePlus

    ... fullstory_164127.html For Seniors, Treatment for One Eye Disease May Cause Another Risk of glaucoma tied ... Drugs that preserve vision in people with the eye disease called age-related macular degeneration might increase ...

  12. Genetic defect causing familial Alzheimer's disease maps on chromosome 21

    SciTech Connect

    St. George-Hyslop, P.H.; Tanzi, R.E.; Polinsky, R.J.; Haines, J.L.; Nee, L.; Watkins, P.C.; Myers, R.H.; Feldman, R.G.; Pollen, D.; Drachman, D.; Growdon, J.

    1987-02-20

    Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.

  13. Mycobacterium paratuberculosis as a cause of Crohn's disease.

    PubMed

    McNees, Adrienne L; Markesich, Diane; Zayyani, Najah R; Graham, David Y

    2015-01-01

    Crohn's disease is a chronic inflammatory bowel disease of unknown cause, affecting approximately 1.4 million North American people. Due to the similarities between Crohn's disease and Johne's disease, a chronic enteritis in ruminant animals caused by Mycobacterium avium paratuberculosis (MAP) infection, MAP has long been considered to be a potential cause of Crohn's disease. MAP is an obligate intracellular pathogen that cannot replicate outside of animal hosts. MAP is widespread in dairy cattle and because of environmental contamination and resistance to pasteurization and chlorination, humans are frequently exposed through contamination of food and water. MAP can be cultured from the peripheral mononuclear cells from 50-100% of patients with Crohn's disease, and less frequently from healthy individuals. Association does not prove causation. We discuss the current data regarding MAP as a potential cause of Crohn's disease and outline what data will be required to firmly prove or disprove the hypothesis.

  14. Mycobacterium paratuberculosis as a cause of Crohn's disease

    PubMed Central

    McNees, Adrienne L.; Markesich, Diane; Zayyani, Najah R.; Graham, David Y.

    2016-01-01

    SUMMARY Crohn's disease is a chronic inflammatory bowel disease of unknown cause, affecting approximately 1.4 million North American people. Due to the similarities between Crohn's disease and Johne’s disease, a chronic enteritis in ruminant animals caused by Mycobacterium avium paratuberculosis (MAP) infection, MAP has long been considered to be a potential cause of Crohn's disease. MAP is an obligate intracellular pathogen that cannot replicate outside of animal hosts. MAP is widespread in dairy cattle and because of environmental contamination and resistance to pasteurization and chlorination, humans are frequently exposed through contamination of food and water. MAP can be cultured from the peripheral mononuclear cells from 50 to 100% of patients with Crohn's disease, and less frequently from healthy individuals. Association does not prove causation. We discuss the current data regarding MAP as a potential cause of Crohn's disease and outline what data will be required to firmly prove or disprove the hypothesis. PMID:26474349

  15. [Effects of silicon on flowering Chinese cabbage's anthracnose occurence, flower stalk formation, and silicon uptake and accumulation].

    PubMed

    Yang, Xian; Feng, Hong-Xian; Yang, Yue-Sheng

    2008-05-01

    Different concentrations of silicon (Si) were applied to flowering Chinese cabbbage (Brassica campestris L. ssp. chinensis var. utilis Tsen et Lee) to study their effects on the flowering Chinese cabbage's anthracnose occurrence, flower stalk formation, and Si uptake and accumulation. The results indicated that Si could obviously control the occurrence of anthracnose, and the effect was genotype-dependant. The plants of susceptible cultivar applied with 2.5 mmol L(-1) Si and those of resistant cultivar applied with 0.5 mmol L(-1) Si exhibited the highest resistance to Colletotrichum higginsianum, with the lowest disease index and the higheist flower stalk yield. Si application also obviously affected the quality of flower stalk. For susceptible cultivar, Si application promoted the synthesis of chlorophyll, crude fiber and vitamin C, and induced the formation of soluble sugars. The contents of chlorophyll and crude fiber increased with increasing Si level. For resistant cultivar, the chlorophyll content increased while vitamin C content decreased with increasing Si level, but Si application had less effect on the contents of crude fiber and soluble sugars. For both cultivars, Si application did not have significant effect on the contents of crude protein and soluble protein but remarkably increased the Si accumulation in plant leaves, and the leaf Si content was significantly increased with increasing Si level. The Si granules deposited in leaf tissues were not equal in size, and distributed unevenly in epidermis tissues. It was concluded that the accumulation of Si in leaves could increase the resistance of plant to anthracnose, but there was no linear correlation between the accumulated amount of Si and the resistance.

  16. Managing Pain Caused By Neurological Disease

    PubMed Central

    Tunks, Eldon

    1985-01-01

    Stabbing paroxysmal pain due to neurological disease can often be controlled by anticonvulsants, whereas steady burning pain is often responsive to tricyclic antidepressants, and to neuroleptics. Overuse of opiates may actually aggravate the pain, necessitating detoxification. Transcutaneous electrical nerve stimulation is helpful for conditions in which pain is localized, especially if there is a ‘trigger area’ or neuroma, or if paresthesias can be stimulated within the painful area. Local anesthetic injection, possibly with corticosteroid, relieves painful scars and neuromas, neuritis, and tender trigger points. Sympathetic blocks are used for post-herpetic neuralgia and sympathetic dystrophies. Relaxation therapy is a very useful psychological treatment. PMID:21274032

  17. [A brief history of the natural causes of human disease].

    PubMed

    Lips-Castro, Walter

    2015-01-01

    In the study of the causes of disease that have arisen during the development of humankind, one can distinguish three major perspectives: the natural, the supernatural, and the artificial. In this paper we distinguish the rational natural causes of disease from the irrational natural causes. Within the natural and rational causal approaches of disease, we can highlight the Egyptian theory of putrid intestinal materials called "wechdu", the humoral theory, the atomistic theory, the contagious theory, the cellular theory, the molecular (genetic) theory, and the ecogenetic theory. Regarding the irrational, esoteric, and mystic causal approaches to disease, we highlight the astrological, the alchemical, the iatrochemical, the iatromechanical, and others (irritability, solidism, brownism, and mesmerism).

  18. Does bacterial vaginosis cause pelvic inflammatory disease?

    PubMed

    Taylor, Brandie DePaoli; Darville, Toni; Haggerty, Catherine L

    2013-02-01

    Pelvic inflammatory disease (PID), the infection and inflammation of the female genital tract, results in serious reproductive morbidity including infertility and ectopic pregnancy. Bacterial vaginosis (BV) is a complex alteration of the vaginal flora that has been implicated in PID. The role of BV in the etiology and pathogenesis of PID has not been studied extensively. Our objective was to extensively review data related to the relationship between BV and PID (n = 19 studies). Several studies found a link between BV and cervicitis, endometritis, and salpingitis. Furthermore, it seems that some BV-associated organisms are associated with PID, whereas others are not. However, studies demonstrating an independent association between BV-associated organisms and PID are sparse. In addition, a causal association between BV and PID has not been established. Prospective studies are needed to further delineate the role of BV in PID, with particular focus on individual BV-associated organisms.

  19. DNA replication stress: causes, resolution and disease.

    PubMed

    Mazouzi, Abdelghani; Velimezi, Georgia; Loizou, Joanna I

    2014-11-15

    DNA replication is a fundamental process of the cell that ensures accurate duplication of the genetic information and subsequent transfer to daughter cells. Various pertubations, originating from endogenous or exogenous sources, can interfere with proper progression and completion of the replication process, thus threatening genome integrity. Coordinated regulation of replication and the DNA damage response is therefore fundamental to counteract these challenges and ensure accurate synthesis of the genetic material under conditions of replication stress. In this review, we summarize the main sources of replication stress and the DNA damage signaling pathways that are activated in order to preserve genome integrity during DNA replication. We also discuss the association of replication stress and DNA damage in human disease and future perspectives in the field.

  20. Tenosynovitis caused by texting: an emerging disease.

    PubMed

    Ashurst, John V; Turco, Domenic A; Lieb, Brian E

    2010-05-01

    De Quervain tenosynovitis is characterized by pain that overlies the radial aspect of the wrist and that is aggravated by ulnar deviation of the hand. The most common cause of de Quervain tenosynovitis is overuse of the thumb musculature. The authors report a case of bilateral de Quervain tenosynovitis observed in a woman aged 48 years at a rural outpatient primary care office. The condition was induced by the patient's excessive use of the text messaging feature on her cellular telephone. Treatment, including naproxen, cock-up wrist splints, and limitation of texting, resulted in complete recovery of the patient. The authors urge physicians to be aware of the potential association between a patient's tenosynovitis symptoms and excessive texting.

  1. Disease causing mutations of calcium channels.

    PubMed

    Lorenzon, Nancy M; Beam, Kurt G

    2008-01-01

    Calcium ions play an important role in the electrical excitability of nerve and muscle, as well as serving as a critical second messenger for diverse cellular functions. As a result, mutations of genes encoding calcium channels may have subtle affects on channel function yet strongly perturb cellular behavior. This review discusses the effects of calcium channel mutations on channel function, the pathological consequences for cellular physiology, and possible links between altered channel function and disease. Many cellular functions are directly or indirectly regulated by the free cytosolic calcium concentration. Thus, calcium levels must be very tightly regulated in time and space. Intracellular calcium ions are essential second messengers and play a role in many functions including, action potential generation, neurotransmitter and hormone release, muscle contraction, neurite outgrowth, synaptogenesis, calcium-dependent gene expression, synaptic plasticity and cell death. Calcium ions that control cell activity can be supplied to the cell cytosol from two major sources: the extracellular space or intracellular stores. Voltage-gated and ligand-gated channels are the primary way in which Ca(2+) ions enter from the extracellular space. The sarcoplasm reticulum (SR) in muscle and the endoplasmic reticulum in non-muscle cells are the main intracellular Ca(2+) stores: the ryanodine receptor (RyR) and inositol-triphosphate receptor channels are the major contributors of calcium release from internal stores.

  2. Causes of death in Minamata disease: analysis of death certificates.

    PubMed

    Tamashiro, H; Akagi, H; Arakaki, M; Futatsuka, M; Roht, L H

    1984-01-01

    The causes of death in Minamata disease were analyzed and compared with those of control subjects. Of the 1422 Minamata disease patients in the Kumamoto Prefecture, 378 had died by the end of 1980. Of these 378, the first death occurred in 1954 with a peak incidence in 1956 when Minamata disease was officially reported for the first time. The number of deaths increased rapidly after 1972 with a second peak in 1976. The male:female ratio was 1.8:1 and the mean age-at-death was 67.2 years (SD = +/- 18.65). The mean age-at-death was younger in the cases of the initial outbreak than in those recently. There were, on the average, 2.8 causes of death per person. Of these cases, 157 (41.5%) had Minamata disease indicated on the death certificate, though 64 (16.9%) had Minamata disease coded as the underlying cause. Minamata disease and the noninflammatory diseases of the central nervous system (CNS) were the main underlying causes of death between 1954 and 1969, while, in the multiple cause data, pneumonia and non-ischemic heart disease were the most prevalent. Cerebrovascular diseases (18.0%) were the main underlying causes of death followed by malignant neoplasms (14.7%), cardiovascular diseases (14.1%) and Minamata disease (14.1%) in 1970 or later, while cardiovascular diseases (18.6%), Minamata disease (14.5%), cerebrovascular diseases (10.4%) and malignant neoplasms (7.1%) were the major multiple causes of death. As compared with the control, the proportions of deaths due to noninflammatory diseases of CNS and pneumonia were higher in the initial outbreak. Although the difference in the causes of death was less apparent recently, malignant neoplasms and hypertensive diseases tended to be lower. These results suggest that there is a need for a long-term follow-up of Minamata disease patients. The data also show the potential value of multiple causes of death coding in analyses of mortality.

  3. Respiratory disease caused by synthetic fibres: a new occupational disease.

    PubMed Central

    Pimentel, J C; Avila, R; Lourenço, A G

    1975-01-01

    Seven patients exposed to the inhalation of synthetic fibres presented with various bronchopulmonary diseases, such as asthma, extrinsic allergic alveolitis, chronic bronchitis with bronchiectasis, spontaneous pneumothorax, and chronic pneumonia. The histological features are described and an attempt has been made to set up immunological techniques for the diagnosis. A series of histochemical techniques, based on textile chemistry, are proposed for the identification of the inclusions found in bronchopulmonary lesions. The results of the experimental production of the disease in guinea-pigs by the inhalation of synthetic fibre dusts are presented. The prognosis of these cases is good in the acute or recently established cases but is poor when widespread and irreversible fibrosis has set in. The authors consider that pulmonary disease due to inhaled particles is probably set off by an individual factor, possibly immunological. Images PMID:1179318

  4. Peptic ulcer disease: clinically relevant causes and treatments.

    PubMed

    Mynatt, Ryan P; Davis, George A; Romanelli, Frank

    2009-02-01

    Peptic ulcer disease is a significant cause of morbidity and in certain cases mortality among affected individuals. Proper identification and treatment of peptic ulcer disease is imperative to decreasing its associated sequellae. The most common causes of peptic ulcer disease are the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and infection with Helicobacter pylori. Initial assessment of the patient with dyspepsia is paramount, as the presence of symptoms will dictate further management. With currently available treatment regimens and the ability to reduce gastrointestinal bleeding it is important for all clinicians to have knowledge of this disease, its diagnosis, and pharmacotherapy.

  5. The wheat Lr34 multi-pathogen resistance gene confers resistance to anthracnose and rust in sorghum.

    PubMed

    Schnippenkoetter, Wendelin; Lo, Clive; Liu, Guoquan; Dibley, Katherine; Chan, Wai Lung; White, Jodie; Milne, Ricky; Zwart, Alexander; Kwong, Eunjung; Keller, Beat; Godwin, Ian; Krattinger, Simon G; Lagudah, Evans

    2017-03-16

    The ability of the wheat Lr34 multi-pathogen resistance gene (Lr34res) to function across a wide taxonomic boundary was investigated in transgenic Sorghum bicolor. Increased resistance to sorghum rust and anthracnose disease symptoms following infection with the biotrophic pathogen Puccinia purpurea and the hemibiotroph Colletotrichum sublineolum respectively occurred in transgenic plants expressing the Lr34res ABC transporter. Transgenic sorghum lines that highly expressed the wheat Lr34res gene exhibited immunity to sorghum rust compared to the low expressing single copy Lr34res genotype that conferred partial resistance. Pathogen induced pigmentation mediated by flavonoid phytoalexins was evident on transgenic sorghum leaves following P. purpurea infection within 24-72 hours, which paralleled Lr34res gene expression. Elevated expression of flavone synthase II, flavanone 4-reductase and dihydroflavonol reductase genes which control the biosynthesis of flavonoid phytoalexins characterised the highly expressing Lr34res transgenic lines 24 h post inoculation with P. purpurea. Metabolite analysis of mesocotyls infected with C. sublineolum showed increased levels of 3-deoxyanthocyanidin metabolites was associated with Lr34res expression, concomitant with reduced symptoms of anthracnose. This article is protected by copyright. All rights reserved.

  6. [Light chain deposition disease as a cause of renal failure].

    PubMed

    Wohl, P; Chadimová, M; Englis, M; Táborský, P; Rossmann, P; Matl, I

    1998-11-30

    The objective of the paper is to draw attention to a rare cause of rapidly progressing renal failure which developed in the course of four months as a result of light chain deposition disease. The authors submit two case-histories of the disease assessed by renal biopsy after previous clinical and laboratory suspicion of monoclonal gammapathy. In one patient in the sternal punctate plasmacytoma was diagnosed and in the second case it was not possible to detect any type of monoclonal gammapathy or another possible cause of disease. Renal failure was in both cases irreversible and both patients were enlisted in regular haemodialyzation treatment.

  7. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

    PubMed Central

    Mallett, Andrew; Posse, Viktor; Moreno, Pablo; Sciacovelli, Marco; Duff, Jennifer; Wiesener, Michael S.; Hudson, Gavin; Gustafsson, Claes M.; Chinnery, Patrick F.; Maxwell, Patrick H.

    2017-01-01

    Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T). While mutations in mtDNA coding sequence are a well recognised cause of disease affecting multiple organs, mutations in the control region have never been shown to cause disease. Strikingly, our patients did not have classical features of mitochondrial disease. Patient fibroblasts showed reduced levels of mitochondrial tRNAPhe, tRNALeu1 and reduced mitochondrial protein translation and respiration. Mitochondrial transfer demonstrated mitochondrial transmission of the defect and in vitro assays showed reduced activity of the heavy strand promoter. We also identified further kindreds with the same phenotype carrying a homoplasmic mutation in mitochondrial tRNAPhe (m.616T>C). Thus mutations in mitochondrial DNA can cause maternally inherited renal disease, likely mediated through reduced function of mitochondrial tRNAPhe. PMID:28267784

  8. Genotype analysis identifies the cause of the "royal disease".

    PubMed

    Rogaev, Evgeny I; Grigorenko, Anastasia P; Faskhutdinova, Gulnaz; Kittler, Ellen L W; Moliaka, Yuri K

    2009-11-06

    The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. Although the disease is widely recognized to be a form of the blood clotting disorder hemophilia, its molecular basis has never been identified, and the royal disease is now likely extinct. We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family. The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX, and is predicted to alter RNA splicing and to lead to production of a truncated form of factor IX. Thus, the royal disease is the severe form of hemophilia, also known as hemophilia B or Christmas disease.

  9. Anthracnose disease evaluation of sorghum germplasm from Honduras

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Germplasm collections are important resources for sorghum improvement and 17 accessions from Honduras were inoculated with Colletotrichum sublineolum and evaluated at the Tropical Agriculture Research Station in Isabela, Puerto Rico during the 2005 and 2006 growing seasons to identify sources of ant...

  10. How do mutations in lamins A and C cause disease?

    PubMed Central

    Worman, Howard J.; Courvalin, Jean-Claude

    2004-01-01

    Mutations in lamins A and C, nuclear intermediate-filament proteins in nearly all somatic cells, cause a variety of diseases that primarily affect striated muscle, adipocytes, or peripheral nerves or cause features of premature aging. Two new studies use lamin A/C–deficient mice, which develop striated muscle disease, as a model to investigate pathogenic mechanisms. These reports provide evidence for a stepwise process in which mechanically stressed cells first develop chromatin and nuclear envelope damage and then develop secondary alterations in the transcriptional activation of genes in adaptive and protective pathways. PMID:14755330

  11. Mutations in TJP2 cause progressive cholestatic liver disease

    PubMed Central

    Sambrotta, Melissa; Strautnieks, Sandra; Papouli, Efterpi; Rushton, Peter; Clark, Barnaby E.; Parry, David A.; Logan, Clare V.; Newbury, Lucy J.; Kamath, Binita M.; Ling, Simon; Grammatikopoulos, Tassos; Wagner, Bart E.; Magee, John C.; Sokol, Ronald J.; Mieli-Vergani, Giorgina; Smith, Joshua D.; Johnson, Colin A.; McClean, Patricia; Simpson, Michael A.; Knisely, A.S.; Bull, Laura N.; Thompson, Richard J.

    2014-01-01

    The elucidation of genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Protein-truncating mutations in the tight junction protein 2 gene (TJP2) are shown to cause failure of protein localisation, with disruption of tight-junction structure leading to severe cholestatic liver disease. This contrasts with the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species. PMID:24614073

  12. Lack of exercise is a major cause of chronic diseases

    PubMed Central

    Booth, Frank W.; Roberts, Christian K.; Laye, Matthew J.

    2014-01-01

    Chronic diseases are major killers in the modern era. Physical inactivity is a primary cause of most chronic diseases. The initial third of the article considers: activity and prevention definitions; historical evidence showing physical inactivity is detrimental to health and normal organ functional capacities; cause vs. treatment; physical activity and inactivity mechanisms differ; gene-environment interaction [including aerobic training adaptations, personalized medicine, and co-twin physical activity]; and specificity of adaptations to type of training. Next, physical activity/exercise is examined as primary prevention against 35 chronic conditions [Accelerated biological aging/premature death, low cardiorespiratory fitness (VO2max), sarcopenia, metabolic syndrome, obesity, insulin resistance, prediabetes, type 2 diabetes, non-alcoholic fatty liver disease, coronary heart disease, peripheral artery disease, hypertension, stroke, congestive heart failure, endothelial dysfunction, arterial dyslipidemia, hemostasis, deep vein thrombosis, cognitive dysfunction, depression and anxiety, osteoporosis, osteoarthritis, balance, bone fracture/falls, rheumatoid arthritis, colon cancer, breast cancer, endometrial cancer, gestational diabetes, preeclampsia, polycystic ovary syndrome, erectile dysfunction, pain, diverticulitis, constipation, and gallbladder diseases]. The article ends with consideration of deterioration of risk factors in longer-term sedentary groups; clinical consequences of inactive childhood/adolescence; and public policy. In summary, the body rapidly maladapts to insufficient physical activity, and if continued, results in substantial decreases in both total and quality years of life. Taken together, conclusive evidence exists that physical inactivity is one important cause of most chronic diseases. In addition, physical activity primarily prevents, or delays, chronic diseases, implying that chronic disease need not be an inevitable outcome during life

  13. [Bone diseases caused by impaired glucose and lipid metabolism].

    PubMed

    Kanazawa, Ippei; Sugimoto, Toshitsugu

    2013-11-01

    The number of patients with lifestyle-related diseases is rapidly increasing in Japan. Metabolic syndrome caused by abdominal fat accumulation induces diabetes mellitus, dyslipidemia, and hypertension, resulting in an increase in cardiovascular diseases. On the other hand, recent studies have shown that the lifestyle-related diseases are risk factors of osteoporotic fractures. Although it remains still unclear how metabolic disorders affect bone tissue, oxidative stress and/or glycation stress might directly have negative impacts on bone tissue and increase the risk of fractures. In this review, we describe the association of diabetes mellitus and dyslipidemia with the fracture risk through oxidative stress and glycation stress.

  14. Effect of host genotypes and weather variables on the severity and temporal dynamics of sorghum anthracnose in Ethiopia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The severity and temporal dynamics of anthracnose on susceptible (BTx623 and AL70) and resistant lines (2001PWColl#022 and 2001HararghieColl#12) were studied in field plots during the 2007 and 2008 growing seasons in southern Ethiopia. The initial, final, and mean anthracnose severities and area un...

  15. Pellagra: A clue as to why energy failure causes diseases?

    PubMed

    Williams, Adrian C; Ramsden, David B

    2007-01-01

    Pellagra is a curable dietary illness that unchecked leads to dementia, diarrhoea, dermatitis and death due to lack of the precursors for NAD(H). In addition it caused a wide range of monosyndromic degenerative and functional neurological disorders as well as profound developmental, premature aging and metabolic syndromes. Pellagrins harbour many chronic infections including tuberculosis, yeasts and malaria, that may be symbionts supplying nicotinamide adenine dinucleotide {NAD(H)} when the diet is poor. Many common diseases and aging may be caused by electrogenic energy mismatches from lack of a timely supply of NAD(H) creating disturbed metabolic fields and "protonopathies". Initially these may present in compartments fronted by homeostatic corrections from chronic symbiotic infections to inflammatory disease, cancer and degenerative/autophagic diseases that can all release NAD(H).

  16. Differentiation of Colletotrichum species responsible for anthracnose of strawberry by arbitrarily primed PCR

    USGS Publications Warehouse

    Freeman, S.; Rodriguez, R.J.

    1995-01-01

    A collection of 39 isolates of Colletotrichum acutatum, C. fragariae and C. gloeosporioides, which cause anthracnose on strawberry, was grouped into species based on the arbitrarily primed polymerase chain reaction (ap-PCR). All isolates used had previously been identified according to classical taxonomic morphology. Ap-PCR amplification of genomic DNA using four different primers allowed for reliable differentiation between isolates of C. acutatum, C. fragariae and two genotypes of C. gloeosporioides. Fifteen of the 18 C. acutatum isolates were very similar, although three isolates which produced a red pigment had distinctly different banding patterns. Nearly identical banding patterns were observed for all nine isolates of C. fragariae. The 12 C. gloeosporioides isolates were more diverse and two separate genotypes, Cgl-1 (six isolates) and Cgl-2 (five isolates) were distinguished by ap-PCR. An additional isolate did not conform to either the Cgl-1 or Cgl-2 genotypes. The utility of ap-PCR compared with other molecular techniques for reliable identification of Colletotrichum isolates pathogenic on strawberry is discussed.

  17. Noroviruses: The Principal Cause of Foodborne Disease Worldwide

    PubMed Central

    Koo, Hoonmo L.; Ajami, Nadim; Atmar, Robert L.; DuPont, Herbert L.

    2011-01-01

    Noroviruses are the leading cause of foodborne disease outbreaks worldwide, and may soon eclipse rotaviruses as the most common cause of severe pediatric gastroenteritis, as the use of rotavirus vaccines becomes more widespread. Genetic mutations and recombinations contribute to the broad heterogeneity of noroviruses and the emergence of new epidemic strains. Although typically a self-limited disease, norovirus gastroenteritis can cause significant morbidity and mortality among children, the elderly, and the immunocompromised. The lack of a cell culture or small animal model has hindered norovirus research and the development of novel therapeutic and preventative interventions. However, vaccines based on norovirus capsid protein virus-like particles are promising and may one day become widely available through transgenic expression in plants. PMID:20670600

  18. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    PubMed

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

  19. Infectious causes of equine respiratory disease on Ontario standardbred racetracks.

    PubMed Central

    Sherman, J; Thorsen, J; Barnum, D A; Mitchell, W R; Ingram, D G

    1977-01-01

    Upper respiratory disease has been a serious problem in Standardbred horses on racetracks in Ontario, with outbreaks occurring once or twice annually in late winter and early spring seasons. To determine the causes of these epidemics, a 3-year investigation was carried out in which nasal swabs and serum samples were obtained at intervals from apparently healthy horses and from horses suffering from upper respiratory disease. The nasal swabs were used to isolate bacteria and viruses. The serum samples were examined for the presence and level of antibodies to equine influenza viruses and equine herpesvirus 1. None of the bacteria isolated were associated with the outbreaks of disease. Equine herpesvirus 2 was isolated 72 times from both diseased and apparently healthy horses. Equine herpesvirus 1 was isolated 10 times from horses with respiratory disease, both during and between epidemics. Influenza equine/1 virus was isolated seven times and influenza equine/2 was isolated once during severe outbreaks of upper respiratory disease. Serological evidence confirmed that influenza viruses were the causes of the major epidemics, with the equine/1 strain being involved most often. PMID:192757

  20. Chemicals and environmentally caused diseases in developing countries

    SciTech Connect

    Jamall, I.S.; Davis, B. )

    1991-06-01

    This chapter discusses international aspects of diseases resulting from exposure to chemical pollutants in the environment, with an emphasis on developing countries. These countries share many of the same problems of air, water, and pesticide pollution that face the more industrialized countries. In developing countries, however, the problems are compounded by a number of unique situations, viz., economic priorities, high burden of infectious diseases, impoverishment, and absence of a regulatory framework for the disposal of toxic chemicals. This discussion emphasizes the importance of interactions among toxicants, malnutrition, and infectious diseases for both urban and rural populations insofar as these interactions contribute to disease. Toxicants not only produce disease directly but also exacerbate diseases with other causes. Specific examples from developing countries demonstrate how human health effects from exposures to environmental chemicals can be assessed. While they do not strictly fall under the rubric of developing countries, the public health consequences of inadequate control of environmental pollution in the East European countries should demonstrate the magnitude of the problem, except that in developing countries the public health consequence of environmental chemicals will be aggravated by the widespread malnutrition and high prevalence of infectious diseases. Much needs to be done before we can adequately quantify the contribution of environmental chemicals to morbidity and mortality in developing countries with the level of sophistication now evident in the charting of infectious diseases in these countries. 52 references.

  1. [Occupational diseases caused by chromium and its compounds].

    PubMed

    Hassmanová, V; Vanĕcková, J; Bousová, K

    2000-01-01

    The present paper demonstrates by documentary evidence occupational diseases caused by chromium and its compounds. Perforations of the nasal septum were diagnosed in 20 males and 9 females, the last one in 1980. Most of them worked in chromium-plating shops. Other diseases, including bronchial asthma, allergic rhinitis, and contact allergic eczemas, were examined in 1985-1999. Bronchial asthma was reported in a textile dyer who was in contact with chromium dyes for 32 years and two allergic rhinitides (a welder and an electroplater) were reported in 1987 as "other damage to health resulting from work." Out of 103 contact allergic eczemas, only 24 diseases, i.e. less than one quarter, were healed in 1999. Improvements were observed in 59 of them and 20 diseases persist. There was an exceptional finding of a chromium ulcer (pigeonneaux) on the lower extremity of a builder.

  2. Helicobacter pylori and autoimmune disease: Cause or bystander

    PubMed Central

    Smyk, Daniel S; Koutsoumpas, Andreas L; Mytilinaiou, Maria G; Rigopoulou, Eirini I; Sakkas, Lazaros I; Bogdanos, Dimitrios P

    2014-01-01

    Helicobacter pylori (H. pylori) is the main cause of chronic gastritis and a major risk factor for gastric cancer. This pathogen has also been considered a potential trigger of gastric autoimmunity, and in particular of autoimmune gastritis. However, a considerable number of reports have attempted to link H. pylori infection with the development of extra-gastrointestinal autoimmune disorders, affecting organs not immediately relevant to the stomach. This review discusses the current evidence in support or against the role of H. pylori as a potential trigger of autoimmune rheumatic and skin diseases, as well as organ specific autoimmune diseases. We discuss epidemiological, serological, immunological and experimental evidence associating this pathogen with autoimmune diseases. Although over one hundred autoimmune diseases have been investigated in relation to H. pylori, we discuss a select number of papers with a larger literature base, and include Sjögrens syndrome, rheumatoid arthritis, systemic lupus erythematosus, vasculitides, autoimmune skin conditions, idiopathic thrombocytopenic purpura, autoimmune thyroid disease, multiple sclerosis, neuromyelitis optica and autoimmune liver diseases. Specific mention is given to those studies reporting an association of anti-H. pylori antibodies with the presence of autoimmune disease-specific clinical parameters, as well as those failing to find such associations. We also provide helpful hints for future research. PMID:24574735

  3. Chronic mild cerebrovascular dysfunction as a cause for Alzheimer's disease?

    PubMed Central

    Humpel, Christian

    2011-01-01

    Alzheimer's disease (AD) is a progressive chronic disorder and is characterized by β-amyloid plaques and angiopathy, tau pathology, neuronal cell death, and inflammatory responses. The reasons for this disease are not known. This review proposes the hypothesis that a chronic mild longlasting cerebrovascular dysfunction could initiate a cascade of events leading to AD. It is suggested that (vascular) risk factors (e.g. hypercholesterolemia, type 2 diabetes, hyperhomocysteinemia) causes either damage of the cerebrovascular system including silent strokes or causes dysregulation of beta-amyloid clearance at the blood-brain barrier resulting in increased brain beta-amyloid. A cascade of subsequent downstream events may lead to disturbed metabolic changes, and neuroinflammation and tau pathology. The role of NGF on the cell death of cholinergic neurons is discussed. Additional risk factors (e.g. acidosis, metals) contribute to plaque development. PMID:21112383

  4. Mutations in the deubiquitinase gene USP8 cause Cushing's disease.

    PubMed

    Reincke, Martin; Sbiera, Silviu; Hayakawa, Akira; Theodoropoulou, Marily; Osswald, Andrea; Beuschlein, Felix; Meitinger, Thomas; Mizuno-Yamasaki, Emi; Kawaguchi, Kohei; Saeki, Yasushi; Tanaka, Keiji; Wieland, Thomas; Graf, Elisabeth; Saeger, Wolfgang; Ronchi, Cristina L; Allolio, Bruno; Buchfelder, Michael; Strom, Tim M; Fassnacht, Martin; Komada, Masayuki

    2015-01-01

    Cushing's disease is caused by corticotroph adenomas of the pituitary. To explore the molecular mechanisms of endocrine autonomy in these tumors, we performed exome sequencing of 10 corticotroph adenomas. We found somatic mutations in the USP8 deubiquitinase gene in 4 of 10 adenomas. The mutations clustered in the 14-3-3 protein binding motif and enhanced the proteolytic cleavage and catalytic activity of USP8. Cleavage of USP8 led to increased deubiqutination of the EGF receptor, impairing its downregulation and sustaining EGF signaling. USP8 mutants enhanced promoter activity of the gene encoding proopiomelanocortin. In summary, our data show that dominant mutations in USP8 cause Cushing's disease via activation of EGF receptor signaling.

  5. Legionnaires' disease caused by Legionella dumoffii in distilled water.

    PubMed Central

    Joly, J R; Déry, P; Gauvreau, L; Coté, L; Trépanier, C

    1986-01-01

    Five cases of Legionnaires' disease caused by Legionella dumoffii were identified within an 11-month period in a hospital in the Quebec City area. In four cases bacterial isolates were obtained from clinical specimens, and in one case seroconversion was demonstrated. All the patients had been admitted to hospital within 10 days before diagnosis. Two of the patients were immunosuppressed children. Only 1 of the 40 hot water samples from the hospital yielded L. dumoffii; however, 6 of 11 distilled water samples contained the bacterium. All the patients had been exposed to distilled water, four through respiratory therapy equipment and one through a room humidifier. Following the use of sterile distilled water in the apparatus, no further cases were identified. This is the first reported outbreak of Legionnaires' disease caused by L. dumoffii, and it is the first time that nosocomial legionellosis has been linked to contaminated distilled water in Canada. PMID:3536052

  6. The unresolved puzzle why alanine extensions cause disease.

    PubMed

    Winter, Reno; Liebold, Jens; Schwarz, Elisabeth

    2013-08-01

    The prospective increase in life expectancy will be accompanied by a rise in the number of elderly people who suffer from ill health caused by old age. Many diseases caused by aging are protein misfolding diseases. The molecular mechanisms underlying these disorders receive constant scientific interest. In addition to old age, mutations also cause congenital protein misfolding disorders. Chorea Huntington, one of the most well-known examples, is caused by triplet extensions that can lead to more than 100 glutamines in the N-terminal region of huntingtin, accompanied by huntingtin aggregation. So far, nine disease-associated triplet extensions have also been described for alanine codons. The extensions lead primarily to skeletal malformations. Eight of these proteins represent transcription factors, while the nuclear poly-adenylate binding protein 1, PABPN1, is an RNA binding protein. Additional alanines in PABPN1 lead to the disease oculopharyngeal muscular dystrophy (OPMD). The alanine extension affects the N-terminal domain of the protein, which has been shown to lack tertiary contacts. Biochemical analyses of the N-terminal domain revealed an alanine-dependent fibril formation. However, fibril formation of full-length protein did not recapitulate the findings of the N-terminal domain. Fibril formation of intact PABPN1 was independent of the alanine segment, and the fibrils displayed biochemical properties that were completely different from those of the N-terminal domain. Although intranuclear inclusions have been shown to represent the histochemical hallmark of OPMD, their role in pathogenesis is currently unclear. Several cell culture and animal models have been generated to study the molecular processes involved in OPMD. These studies revealed a number of promising future therapeutic strategies that could one day improve the quality of life for the patients.

  7. Viral Agents Causing Brown Cap Mushroom Disease of Agaricus bisporus.

    PubMed

    Eastwood, Daniel; Green, Julian; Grogan, Helen; Burton, Kerry

    2015-10-01

    The symptoms of viral infections of fungi range from cryptic to severe, but there is little knowledge of the factors involved in this transition of fungal/viral interactions. Brown cap mushroom disease of the cultivated Agaricus bisporus is economically important and represents a model system to describe this transition. Differentially expressed transcript fragments between mushrooms showing the symptoms of brown cap mushroom disease and control white noninfected mushrooms have been identified and sequenced. Ten of these RNA fragments have been found to be upregulated over 1,000-fold between diseased and nondiseased tissue but are absent from the Agaricus bisporus genome sequence and hybridize to double-stranded RNAs extracted from diseased tissue. We hypothesize that these transcript fragments are viral and represent components of the disease-causing agent, a bipartite virus with similarities to the family Partitiviridae. The virus fragments were found at two distinct levels within infected mushrooms, at raised levels in infected, nonsymptomatic, white mushrooms and at much greater levels (3,500 to 87,000 times greater) in infected mushrooms exhibiting brown coloration. In addition, differential screening revealed 9 upregulated and 32 downregulated host Agaricus bisporus transcripts. Chromametric analysis was able to distinguish color differences between noninfected white mushrooms and white infected mushrooms at an early stage of mushroom growth. This method may be the basis for an "on-farm" disease detection assay.

  8. [Autoinflammatory diseases as cause of wound healing defects].

    PubMed

    Löhrer, R; Eming, R; Wolfrum, N; Krieg, T; Eming, S A

    2011-07-01

    Ulcerations of the skin and mucosal membranes are a common feature of autoinflammatory diseases. They can give raise to chronic wound healing defects and should be considered in the differential diagnosis of chronic skin ulcers. The increased activation of the innate immune system in the absence of an apparent provocation for inflammation is a hallmark of autoinflammatory diseases. Mutations and alterations of signaling pathways regulating the innate immune response to physical trauma/tissue damage result into an unrestrained activation of the inflammasome, which leads to increased activation of Interleukin-1. Uncontrolled recruitment and activation of myeloid effector cells within the wound site lead to the release of potent proteases that cause the degradation of structural components of the skin. The majority of these diseases respond well to immunosuppressive and immunomodulatory treatment regimes. Therapeutic resistance converts the acute inflammatory response into a chronic and non-resolving inflammatory process that leads to tissue degeneration. In this article we will focus on the review of those autoinflammatory diseases that often display ulcerative cutaneous and aphthous lesions including pyoderma gangrenosum, Behçet disease, PAPA syndrome and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). Furthermore, the article will be complemented by an overview of those inflammatory diseases that are associated with non-ulcerative cutaneous manifestations.

  9. Cat-scratch disease causing status epilepticus in children.

    PubMed

    Easley, R B; Cooperstock, M S; Tobias, J D

    1999-01-01

    Status epilepticus from cat-scratch encephalopathy is often recalcitrant to usual therapies, causing treatment to focus on critical care management of the patient that may require aggressive interventions, such as continuous pentobarbital administration. We describe two children whose initial clinical presentation of cat-scratch disease was status epilepticus with normal cerebrospinal fluid studies. A history of cat exposure (specifically, kitten and/or fleas), regional lymphadenopathy, and a papule or inoculation site should be sought, but are not essential for diagnosis. The presumptive diagnosis of cat-scratch disease can be made by serology alone even in the absence of classic diagnostic criteria. Our two cases and other reports in the literature show a favorable prognosis in most cases, despite the occurrence of status epilepticus. The diagnosis of cat-scratch disease should be strongly considered in all children with unexplained status epilepticus or encephalopathy and serologic testing for Bartonella henselae should be done.

  10. DIAGNOSIS OF ENDOCRINE DISEASE: Expanding the cause of hypopituitarism.

    PubMed

    Pekic, Sandra; Popovic, Vera

    2017-03-03

    Hypopituitarism is defined as one or more pituitary hormone deficits due to a lesion in the hypothalamic-pituitary region. By far, the most common cause of hypopituitarism associated with a sellar mass is a pituitary adenoma. A high index of suspicion is required for diagnosing hypopituitarism in several other conditions such as: other massess in the sellar and parasellar region, brain damage caused by radiation and by traumatic brain injury, vascular lesions, infiltrative/immunological/inflammatory diseases (lymphocytic hypophysitis, sarcoidosis, hemochromatosis), infectious diseases and genetic disorders. Hypopituitarism may be permanent and progressive with sequential pattern of hormone deficiencies (radiation-induced hypopituitarism) or transient after traumatic brain injury with possible recovery occuring years from the initial event. In recent years there is increased reporting of less common and less reported causes of hypopituitarism with its delayed diagnosis. The aim of this review is to summarize the published data and to allow earlier identification of populations at risk of hypopituitarism since optimal hormonal replacement may significantly improve their quality of life and life expectancy.

  11. Seeking environmental causes of neurodegenerative disease and envisioning primary prevention.

    PubMed

    Spencer, Peter S; Palmer, Valerie S; Kisby, Glen E

    2016-09-01

    Pathological changes of the aging brain are expressed in a range of neurodegenerative disorders that will impact increasing numbers of people across the globe. Research on the causes of these disorders has focused heavily on genetics, and strategies for prevention envision drug-induced slowing or arresting disease advance before its clinical appearance. We discuss a strategic shift that seeks to identify the environmental causes or contributions to neurodegeneration, and the vision of primary disease prevention by removing or controlling exposure to culpable agents. The plausibility of this approach is illustrated by the prototypical neurodegenerative disease amyotrophic lateral sclerosis and parkinsonism-dementia complex (ALS-PDC). This often-familial long-latency disease, once thought to be an inherited genetic disorder but now known to have a predominant or exclusive environmental origin, is in the process of disappearing from the three heavily affected populations, namely Chamorros of Guam and Rota, Japanese residents of Kii Peninsula, Honshu, and Auyu and Jaqai linguistic groups on the island of New Guinea in West Papua, Indonesia. Exposure via traditional food and/or medicine (the only common exposure in all three geographic isolates) to one or more neurotoxins in seed of cycad plants is the most plausible if yet unproven etiology. Neurotoxin dosage and/or subject age at exposure might explain the stratified epidemic of neurodegenerative disease on Guam in which high-incidence ALS peaked and declined before that of PD, only to be replaced today by a dementing disorder comparable to Alzheimer's disease. Exposure to the Guam environment is also linked to the delayed development of ALS among a subset of Chamorro and non-Chamorro Gulf War/Era veterans, a summary of which is reported here for the first time. Lessons learned from this study and from 65 years of research on ALS-PDC include the exceptional value of initial, field-based informal investigation of

  12. Will chronic e-cigarette use cause lung disease?

    PubMed

    Rowell, Temperance R; Tarran, Robert

    2015-12-15

    Chronic tobacco smoking is a major cause of preventable morbidity and mortality worldwide. In the lung, tobacco smoking increases the risk of lung cancer, and also causes chronic obstructive pulmonary disease (COPD), which encompasses both emphysema and chronic bronchitis. E-cigarettes (E-Cigs), or electronic nicotine delivery systems, were developed over a decade ago and are designed to deliver nicotine without combusting tobacco. Although tobacco smoking has declined since the 1950s, E-Cig usage has increased, attracting both former tobacco smokers and never smokers. E-Cig liquids (e-liquids) contain nicotine in a glycerol/propylene glycol vehicle with flavorings, which are vaporized and inhaled. To date, neither E-Cig devices, nor e-liquids, are regulated by the Food and Drug Administration (FDA). The FDA has proposed a deeming rule, which aims to initiate legislation to regulate E-Cigs, but the timeline to take effect is uncertain. Proponents of E-Cigs say that they are safe and should not be regulated. Opposition is varied, with some opponents proposing that E-Cig usage will introduce a new generation to nicotine addiction, reversing the decline seen with tobacco smoking, or that E-Cigs generally may not be safe and will trigger diseases like tobacco. In this review, we shall discuss what is known about the effects of E-Cigs on the mammalian lung and isolated lung cells in vitro. We hope that collating this data will help illustrate gaps in the knowledge of this burgeoning field, directing researchers toward answering whether or not E-Cigs are capable of causing disease.

  13. Compensation for occupational disease with multiple causes: the case of coal miners respiratory diseases

    SciTech Connect

    Weeks, J.L.; Wagner, G.R.

    1986-01-01

    Many diseases associated with occupational exposures are clinically indistinguishable from diseases with non-occupational causes. Given this, how are fair decisions made about eligibility for compensation. This problem is discussed in relation to the federal black lung program. Conflicting definitions of terms--coal workers pneumoconiosis as defined by the medical profession, pneumoconiosis as defined by the United States Congress, and the popular term, black lung--are important considerations in this discussion. Each is embedded in different logical interpretations of the causes of occupational disease and of disability. Alternative views are presented and critically discussed.

  14. A Novel Virus Causes Scale Drop Disease in Lates calcarifer

    PubMed Central

    de Groof, Ad; Guelen, Lars; Deijs, Martin; van der Wal, Yorick; Miyata, Masato; Ng, Kah Sing; van Grinsven, Lotte; Simmelink, Bartjan; Biermann, Yvonne; Grisez, Luc; van Lent, Jan; de Ronde, Anthony; Chang, Siow Foong; Schrier, Carla; van der Hoek, Lia

    2015-01-01

    From 1992 onwards, outbreaks of a previously unknown illness have been reported in Asian seabass (Lates calcarifer) kept in maricultures in Southeast Asia. The most striking symptom of this emerging disease is the loss of scales. It was referred to as scale drop syndrome, but the etiology remained enigmatic. By using a next-generation virus discovery technique, VIDISCA-454, sequences of an unknown virus were detected in serum of diseased fish. The near complete genome sequence of the virus was determined, which shows a unique genome organization, and low levels of identity to known members of the Iridoviridae. Based on homology of a series of putatively encoded proteins, the virus is a novel member of the Megalocytivirus genus of the Iridoviridae family. The virus was isolated and propagated in cell culture, where it caused a cytopathogenic effect in infected Asian seabass kidney and brain cells. Electron microscopy revealed icosahedral virions of about 140 nm, characteristic for the Iridoviridae. In vitro cultured virus induced scale drop syndrome in Asian seabass in vivo and the virus could be reisolated from these infected fish. These findings show that the virus is the causative agent for the scale drop syndrome, as each of Koch’s postulates is fulfilled. We have named the virus Scale Drop Disease Virus. Vaccines prepared from BEI- and formalin inactivated virus, as well as from E. coli produced major capsid protein provide efficacious protection against scale drop disease. PMID:26252390

  15. A Novel Virus Causes Scale Drop Disease in Lates calcarifer.

    PubMed

    de Groof, Ad; Guelen, Lars; Deijs, Martin; van der Wal, Yorick; Miyata, Masato; Ng, Kah Sing; van Grinsven, Lotte; Simmelink, Bartjan; Biermann, Yvonne; Grisez, Luc; van Lent, Jan; de Ronde, Anthony; Chang, Siow Foong; Schrier, Carla; van der Hoek, Lia

    2015-08-01

    From 1992 onwards, outbreaks of a previously unknown illness have been reported in Asian seabass (Lates calcarifer) kept in maricultures in Southeast Asia. The most striking symptom of this emerging disease is the loss of scales. It was referred to as scale drop syndrome, but the etiology remained enigmatic. By using a next-generation virus discovery technique, VIDISCA-454, sequences of an unknown virus were detected in serum of diseased fish. The near complete genome sequence of the virus was determined, which shows a unique genome organization, and low levels of identity to known members of the Iridoviridae. Based on homology of a series of putatively encoded proteins, the virus is a novel member of the Megalocytivirus genus of the Iridoviridae family. The virus was isolated and propagated in cell culture, where it caused a cytopathogenic effect in infected Asian seabass kidney and brain cells. Electron microscopy revealed icosahedral virions of about 140 nm, characteristic for the Iridoviridae. In vitro cultured virus induced scale drop syndrome in Asian seabass in vivo and the virus could be reisolated from these infected fish. These findings show that the virus is the causative agent for the scale drop syndrome, as each of Koch's postulates is fulfilled. We have named the virus Scale Drop Disease Virus. Vaccines prepared from BEI- and formalin inactivated virus, as well as from E. coli produced major capsid protein provide efficacious protection against scale drop disease.

  16. Legal strategies to reduce tobacco-caused disease.

    PubMed

    Sweanor, David

    2003-12-01

    In efforts to control diseases it is common to look at ways to control the vectors of disease. When dealing with tobacco-caused disease this requires an understanding of the companies that manufacture and market tobacco products, and an examination of how to shape the behaviour of these companies. Since these corporations are created by law, and seek to maximize value for their owners within the constraints that laws place on the marketplace, it is only natural that a very significant part of tobacco control activities will consist of legal strategies. This paper identifies the underlying public health goal of tobacco control activities as being the reduction of death and disease. It then considers the roles that prevention, cessation, protection from environmental tobacco smoke and toxicity reduction can play as overall strategies for achieving this goal. This is followed by the identification of a broad range of legal strategies, primarily emphasizing governmental regulation, that can be used as part of these overall strategies. The paper looks specifically at a range of measures that impact on the accessibility of tobacco products, the provision of information for consumers, protection of the health and rights of non-users and the significant potential health gains from regulation of tobacco products.

  17. New insights into the cause of Parkinson's disease

    SciTech Connect

    Jenner, P.; Schapira, A.H.; Marsden, C.D. )

    1992-12-01

    Current concepts as to the cause of Parkinson's disease (PD) suggest an inherited predisposition to environmental or endogenous toxic agents. Study of the substantia nigra after death in PD has highlighted three major changes: (1) evidence of oxidative stress and depletion of reduced glutathione; (2) high levels of total iron, with reduced ferritin buffering; and (3) mitochondrial complex I deficiency. Which of these is the primary event, generating a secondary cascade of changes culminating in nigral cell death, is unknown. In presymptomatic Lewy body-positive control brains, the nigra shows depletion of reduced glutathione content and, possibly, a reduction of complex I activity. Whatever the significance of these various abnormalities, be they causal or secondary, they provide novel targets for the development of new strategies to treat the cause of PD.104 references.

  18. Systemic Mastocytosis Causing Refractory Pruritus in a Liver Disease Patient

    PubMed Central

    Addepally, Naga S.; Klair, Jagpal S.; Jones, Johnny; Aduli, Farshad

    2016-01-01

    Systemic mastocytosis (SM) results from clonal, neoplastic proliferation of abnormal mast cells. Patients become susceptible to itching, urticaria, and anaphylactic shock, which occurs due to histamine release from mast cells. SM may coexist alongside other systemic diseases, thus confounding the overall clinical presentation. We discuss a 23-year-old woman with refractory pruritus, which was initially attributed to primary sclerosing cholangitis but had a nonresponse to antihistaminics, ursodiol, and cholestyramine. Concurrent evaluation for polyarthritis revealed increased uptake in the proximal femur on a bone scan, and subsequent bone marrow biopsy revealed indolent SM, and this was understood to be the cause of her intractable pruritus. PMID:27921051

  19. Diseases caused by mutations in ORAI1 and STIM1

    PubMed Central

    Lacruz, Rodrigo S.; Feske, Stefan

    2015-01-01

    Ca2+ release-activated Ca2+ (CRAC) channels mediate a specific form of Ca2+ influx called store-operated Ca2+ entry (SOCE) that contributes to the function of many cell types. CRAC channels are formed by ORAI1 proteins located in the plasma membrane, which form its ion-conducting pore. ORAI1 channels are activated by stromal interaction molecule (STIM) 1 and STIM2 located in the endoplasmic reticulum. Loss- and gain-of-function gene mutations in ORAI1 and STIM1 in human patients cause distinct disease syndromes. CRAC channelopathy is caused by loss-of-function mutations in ORAI1 and STIM1 that abolish CRAC channel function and SOCE; it is characterized by severe combined immunodeficiency (SCID)-like disease, autoimmunity, muscular hypotonia, and ectodermal dysplasia, with defects in dental enamel. The latter defect emphasizes an important role of CRAC channels in tooth development. By contrast, autosomal dominant gain-of-function mutations in these genes result in constitutive CRAC channel activation, SOCE, and increased intracellular Ca2+ levels that are associated with an overlapping spectrum of diseases, including non-syndromic tubular aggregate myopathy (TAM) and York platelet and Stormorken syndromes, two syndromes defined, besides myopathy, by thrombocytopenia, thrombopathy, and bleeding diathesis. The fact that myopathy results from loss- and gain-of-function mutations in ORAI1 and STIM1 highlights the importance of CRAC channels for Ca2+ homeostasis in skeletal muscle function. The cellular dysfunction and clinical disease spectrum observed in mutant patients provide important information about the molecular regulation of ORAI1 and STIM1 proteins and the role of CRAC channels in human physiology. PMID:26469693

  20. Mechanisms of disease: genetic causes of familial hypercholesterolemia.

    PubMed

    Soutar, Anne K; Naoumova, Rossi P

    2007-04-01

    Familial hypercholesterolemia (FH) is characterized by raised serum LDL cholesterol levels, which result in excess deposition of cholesterol in tissues, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. FH results from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, commonly caused by a loss-of-function mutation in the LDL-receptor gene (LDLR) or by a mutation in the gene encoding apolipoprotein B (APOB). FH is primarily an autosomal dominant disorder with a gene-dosage effect. An autosomal recessive form of FH caused by loss-of-function mutations in LDLRAP1, which encodes a protein required for clathrin-mediated internalization of the LDL receptor by liver cells, has also been documented. The most recent addition to the database of genes in which defects cause FH is one encoding a member of the proprotein convertase family, PCSK9. Rare dominant gain-of-function mutations in PCSK9 cosegregate with hypercholesterolemia, and one mutation is associated with a particularly severe FH phenotype. Expression of PCSK9 normally downregulates the LDL-receptor pathway by indirectly causing degradation of LDL-receptor protein, and loss-of-function mutations in PCSK9 result in low plasma LDL levels. Thus, PCSK9 is an attractive target for new drugs aimed at lowering serum LDL cholesterol, which should have additive lipid-lowering effects to the statins currently used.

  1. Burden of disease caused by local transport in Warsaw, Poland

    PubMed Central

    Tainio, Marko

    2015-01-01

    Transport is a major source of air pollution, noise, injuries and physical activity in the urban environment. The quantification of the health risks and benefits arising from these factors would provide useful information for the planning of cost-effective mitigation actions. In this study we quantified the burden of disease caused by local transport in the city of Warsaw, Poland. The disability-adjusted life-years (DALYs) were estimated for transport related air pollution (particulate matter (PM), nitrogen oxides (NOx), sulfur dioxide (SO2), benzo[a]pyrene (BaP), cadmium, lead and nickel), noise, injuries and physical activity. Exposure to these factors was based on local and international data, and the exposure-response functions (ERFs) were based on published reviews and recommendations. The uncertainties were quantified and propagated with the Monte Carlo method. Local transport generated air pollution, noise and injuries were estimated to cause approximately 58,000 DALYs in the study area. From this burden 44% was due to air pollution and 46% due to noise. Transport related physical activity was estimated to cause a health benefit of 17,000 DALYs. Main quantified uncertainties were related to disability weight for the annoyance (due to noise) and to the ERFs for fine particulate matter (PM2.5) air pollution and walking. The results indicate that the health burden of transport could be mitigated by reducing motorized transport, which causes air pollution and noise, and by encouraging walking and cycling in the study area. PMID:26516622

  2. Effect of Fungicides on the Reaction of Sorghum Hybrids to Anthracnose in Burleson County, Texas, 2012

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The use of three fungicides to control grain mold/weathering and anthracnose on two sorghum hybrids NC+7R34 and Warner W851-DR was conducted during the 2012 growing season. Three fungicides Headline, Quilt Xcel, and Topguard were used. On May 26, plots were inoculated by putting 10 Colletotrichum ...

  3. Response of sorghum accessions from four African countries against Colletotrichum sublineolum, causal agent of sorghum anthracnose

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Seventy-two sorghum accessions were randomly selected from the Ethiopia, Mali, Sudan, and Uganda germplasm collections maintained by the US National Plant Germplasm System to evaluate variation in anthracnose resistance. The accessions were planted in a randomized complete block design in College S...

  4. Molecular characterization and pathogenicity assays of Colletotrichum acutatum, causal agent for lime anthracnose in Texas

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Several distorted Mexican lime [Citrus aurantiifolia (Christm). Swingle] fruit, leaf, and twig samples with lime anthracnose symptoms were collected from three trees in residential areas of Brownsville, Texas. The causal fungal organism, Colletotrichum acutatum J. H. Simmonds was isolated from leave...

  5. Evaluation of the Ugandan sorghum accessions for grain mold and anthracnose resistance

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sorghum accessions from Uganda were evaluated for grain mold and anthracnose resistance during the 2005 and 2006 growing seasons at the Texas A&M University Research Farm, near College Station, TX. Accession PI534117 and SC719-11E exhibited the lowest grain mold severities of 2.4, whereas, accessio...

  6. [Environmental causes of the distal airways disease. Hypersensitivity pneumonitis and rare causes].

    PubMed

    Dalphin, J-C; Didier, A

    2013-10-01

    Hypersensitivity pneumonitis is one of the most frequent causes of distal airways disease. It is associated with inflammation of the bronchioles, predominantly by lymphocytic infiltrates, and with granuloma formation causing bronchial obstruction. This inflammation explains the clinical manifestations and the airways obstruction seen on pulmonary function tests, most often in the distal airways but proximal in almost 20%. CT scan abnormalities reflect the lymphocytic infiltrates and air trapping and, in some cases, the presence of emphysema. Bronchiolitis induced by chronic inhalation of mineral particles or acute inhalation of toxic gases (such as NO2) are other examples of small airways damage due to environmental exposure. The pathophysiological mechanisms are different and bronchiolar damage is either exclusive or predominant. Bronchiolitis induced by tobacco smoke exposure, usually classified as interstitial pneumonitis, is easily diagnosed thanks to broncho-alveolar lavage. Its prognosis is linked to the other consequences of tobacco smoke exposure including respiratory insufficiency. Finally, the complex lung exposure observed in some rare cases (such as the World Trade Center fire or during wars) may lead to a less characteristic pattern of small airways disease.

  7. [Acute diarrheal disease caused by enteropathogenic Escherichia coli in Colombia].

    PubMed

    Gómez-Duarte, Oscar G

    2014-10-01

    Intestinal Escherichia coli pathogens are leading causes of acute diarrheal disease in children less than 5 years in Latin America, Africa and Asia and a leading cause of death in children living in poorest communities in Africa and South East Asia. Studies on the role of E. coli pathogens in childhood diarrhea in Colombia and other countries in Latin America are limited due to the lack of detection assays in clinical laboratories at the main urban medical centers. Recent studies report that enterotoxigenic E. coli is the most common E. coli pathogens associated with diarrhea in children less than 5 years of age. Other E. coli pathotypes have been detected in children with diarrhea including enteropathogenic, enteroaggregative, shiga-toxin producing and diffusely adherent E. coli. It was also found that meat and vegetables at retail stores are contaminated with Shiga-toxin producing E. coli and enteroaggregative E. coli, suggesting that food products are involved in transmission and infection of the susceptible host. More studies are necessary to evaluate the mechanisms of transmission, the impact on the epidemiology of diarrheal disease, and management strategies and prevention of these pathogens affecting the pediatric population in Colombia.

  8. Disability Weights Measurement for 228 Causes of Disease in the Korean Burden of Disease Study 2012.

    PubMed

    Ock, Minsu; Lee, Jin Yong; Oh, In Hwan; Park, Hyesook; Yoon, Seok Jun; Jo, Min Woo

    2016-11-01

    Disability weight for each disease plays a key role in combining years lived with disability and years of life lost in disability adjusted life year. For the Korean Burden of Disease 2012 study, we have conducted a re-estimation of disability weights for causes of disease by adapting the methodology of a recent Global Burden of Disease study. Our study was conducted through a self-administered web-based survey using a paired comparison (PC) as the main valuation method. A total of 496 physicians and medical college students who were attending in third or fourth grade of a regular course conducted the survey. We applied a probit regression on the PC data and computed the predicted probabilities of each cause of disease from the coefficient estimates of the probit regression. We used 'being dead (1)' and 'full health (0)' as anchor points to rescale the predicted probability of each cause of disease on a scale of 0 to 1. By this method, disability weights for a total of 228 causes of disease were estimated. There was a fairly high correlation between the disability weights of overlapping causes of disease from this study and a previous South Korean study despite the differences in valuation methods and time periods. In conclusion, we have shown that disability weights can be estimated based on a PC by including 'full health' and 'being dead' as anchor points without resorting to a person trade-off. Through developments in the methodology of disability weights estimation from this study, disability weights can be easily estimated and continuously revised.

  9. Disability Weights Measurement for 228 Causes of Disease in the Korean Burden of Disease Study 2012

    PubMed Central

    2016-01-01

    Disability weight for each disease plays a key role in combining years lived with disability and years of life lost in disability adjusted life year. For the Korean Burden of Disease 2012 study, we have conducted a re-estimation of disability weights for causes of disease by adapting the methodology of a recent Global Burden of Disease study. Our study was conducted through a self-administered web-based survey using a paired comparison (PC) as the main valuation method. A total of 496 physicians and medical college students who were attending in third or fourth grade of a regular course conducted the survey. We applied a probit regression on the PC data and computed the predicted probabilities of each cause of disease from the coefficient estimates of the probit regression. We used 'being dead (1)' and 'full health (0)' as anchor points to rescale the predicted probability of each cause of disease on a scale of 0 to 1. By this method, disability weights for a total of 228 causes of disease were estimated. There was a fairly high correlation between the disability weights of overlapping causes of disease from this study and a previous South Korean study despite the differences in valuation methods and time periods. In conclusion, we have shown that disability weights can be estimated based on a PC by including 'full health' and 'being dead' as anchor points without resorting to a person trade-off. Through developments in the methodology of disability weights estimation from this study, disability weights can be easily estimated and continuously revised. PMID:27775250

  10. Mutations that Cause Human Disease: A Computational/Experimental Approach

    SciTech Connect

    Beernink, P; Barsky, D; Pesavento, B

    2006-01-11

    International genome sequencing projects have produced billions of nucleotides (letters) of DNA sequence data, including the complete genome sequences of 74 organisms. These genome sequences have created many new scientific opportunities, including the ability to identify sequence variations among individuals within a species. These genetic differences, which are known as single nucleotide polymorphisms (SNPs), are particularly important in understanding the genetic basis for disease susceptibility. Since the report of the complete human genome sequence, over two million human SNPs have been identified, including a large-scale comparison of an entire chromosome from twenty individuals. Of the protein coding SNPs (cSNPs), approximately half leads to a single amino acid change in the encoded protein (non-synonymous coding SNPs). Most of these changes are functionally silent, while the remainder negatively impact the protein and sometimes cause human disease. To date, over 550 SNPs have been found to cause single locus (monogenic) diseases and many others have been associated with polygenic diseases. SNPs have been linked to specific human diseases, including late-onset Parkinson disease, autism, rheumatoid arthritis and cancer. The ability to predict accurately the effects of these SNPs on protein function would represent a major advance toward understanding these diseases. To date several attempts have been made toward predicting the effects of such mutations. The most successful of these is a computational approach called ''Sorting Intolerant From Tolerant'' (SIFT). This method uses sequence conservation among many similar proteins to predict which residues in a protein are functionally important. However, this method suffers from several limitations. First, a query sequence must have a sufficient number of relatives to infer sequence conservation. Second, this method does not make use of or provide any information on protein structure, which can be used to

  11. How reflux causes symptoms: reflux perception in gastroesophageal reflux disease.

    PubMed

    Weijenborg, Pim W; Bredenoord, Albert J

    2013-06-01

    In gastroesophageal reflux disease (GERD) symptoms arise due to reflux of gastric content into the oesophagus. However, the relation between magnitude and onset of reflux and symptom generation in GERD patients is far from simple; gastroesophageal reflux occurs several times a day in everyone and the majority of reflux episodes remains asymptomatic. This review aims to address the question how reflux causes symptoms, focussing on factors leading to enhanced reflux perception. We will highlight esophageal sensitivity variance between subtypes of GERD, which is influenced by peripheral sensitization of primary afferents, central sensitization of spinal dorsal horn neurons, impaired mucosal barrier function and genetic factors. We will also discuss the contribution of specific refluxate characteristics to reflux perception, including acidity, and the role of bile, pepsin and gas and proximal extent. Further understanding of reflux perception might improve GERD treatment, especially in current partial responders to therapy.

  12. Splicing in action: assessing disease causing sequence changes

    PubMed Central

    Baralle, D; Baralle, M

    2005-01-01

    Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can result in either complete skipping of the exon, retention of the intron, or the introduction of a new splice site within an exon or intron. Sometimes mutations that do not disrupt or create a splice site activate pre-existing pseudo splice sites, consistent with the proposal that introns contain splicing inhibitory sequences. These variants can also affect the fine balance of isoforms produced by alternatively spliced exons and in consequence cause disease. Available genomic pathology data reveal that we are still partly ignorant of the basic mechanisms that underlie the pre-mRNA splicing process. The fact that human pathology can provide pointers to new modulatory elements of splicing should be exploited. PMID:16199547

  13. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

    PubMed

    Boone, Philip M; Campbell, Ian M; Baggett, Brett C; Soens, Zachry T; Rao, Mitchell M; Hixson, Patricia M; Patel, Ankita; Bi, Weimin; Cheung, Sau Wai; Lalani, Seema R; Beaudet, Arthur L; Stankiewicz, Pawel; Shaw, Chad A; Lupski, James R

    2013-09-01

    Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization in a clinical diagnostic setting to identify deletions encompassing or disrupting recessive disease genes. We identified 3212 heterozygous potential carrier deletions affecting 419 unique recessive disease genes. Deletion frequency of these genes ranged from one occurrence to 1.5%. When compared with recessive disease genes never deleted in our cohort, the 419 recessive disease genes affected by at least one carrier deletion were longer and located farther from known dominant disease genes, suggesting that the formation and/or prevalence of carrier CNVs may be affected by both local and adjacent genomic features and by selection. Some subjects had multiple carrier CNVs (307 subjects) and/or carrier deletions encompassing more than one recessive disease gene (206 deletions). Heterozygous deletions spanning multiple recessive disease genes may confer carrier status for multiple single-gene disorders, for complex syndromes resulting from the combination of two or more recessive conditions, or may potentially cause clinical phenotypes due to a multiply heterozygous state. In addition to carrier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive disease. We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations. Thus, a complete recessive carrier screening method or diagnostic test should detect CNV alleles.

  14. [DIABETIC NEPHROPATHY AS A CAUSE OF CHRONIC KIDNEY DISEASE].

    PubMed

    Kos, Ivan; Prkačin, Ingrid

    2014-12-01

    Diabetic nephropathy is the leading cause of end-stage chronic kidney disease in most developed countries. Hyperglycemia, hypertension and genetic predisposition are the main risk factors for the development of diabetic nephropathy. Elevated serum lipids, smoking habits, and the amount and origin of dietary protein also seem to play a role as risk factors. Clinical picture includes a progressive increase in albuminuria, decline in glomerular filtration, hypertension, and a high risk of cardiovascular morbidity and mortality. Screening for albuminuria should be performed yearly, starting 5 years after diagnosis in type 1 diabetes or earlier in the presence of adolescence or poor metabolic control. In patients with type 2 diabetes, screening should be performed at diagnosis and yearly thereafter. Patients with albuminuria should undergo evaluation regarding the presence of associated comorbidities, especially retinopathy and macrovascular disease. Achieving the best metabolic control (HbA1c < 7%), treating hypertension (target blood pressure < 140/85 mm Hg), using drugs with blockade effect on the renin-angiotensin-aldosterone system, treating dyslipidemia and anemia are effective strategies for preventing the development of albuminuria, delaying the progression to more advanced stages of nephropathy and reducing cardiovascular mortality in patients with type 1 and type 2 diabetes.

  15. Does anxiety cause freezing of gait in Parkinson's disease?

    PubMed

    Ehgoetz Martens, Kaylena A; Ellard, Colin G; Almeida, Quincy J

    2014-01-01

    Individuals with Parkinson's disease (PD) commonly experience freezing of gait under time constraints, in narrow spaces, and in the dark. One commonality between these different situations is that they may all provoke anxiety, yet anxiety has never been directly examined as a cause of FOG. In this study, virtual reality was used to induce anxiety and evaluate whether it directly causes FOG. Fourteen patients with PD and freezing of gait (Freezers) and 17 PD without freezing of gait (Non-Freezers) were instructed to walk in two virtual environments: (i) across a plank that was located on the ground (LOW), (ii) across a plank above a deep pit (HIGH). Multiple synchronized motion capture cameras updated participants' movement through the virtual environment in real-time, while their gait was recorded. Anxiety levels were evaluated after each trial using self-assessment manikins. Freezers performed the experiment on two separate occasions (in their ON and OFF state). Freezers reported higher levels of anxiety compared to Non-Freezers (p < 0.001) and all patients reported greater levels of anxiety when walking across the HIGH plank compared to the LOW (p < 0.001). Freezers experienced significantly more freezing of gait episodes (p = 0.013) and spent a significantly greater percentage of each trial frozen (p = 0.005) when crossing the HIGH plank. This finding was even more pronounced when comparing Freezers in their OFF state. Freezers also had greater step length variability in the HIGH compared to the LOW condition, while the step length variability in Non-Freezers did not change. In conclusion, this was the first study to directly compare freezing of gait in anxious and non-anxious situations. These results present strong evidence that anxiety is an important mechanism underlying freezing of gait and supports the notion that the limbic system may have a profound contribution to freezing in PD.

  16. Attention! Cardiac tamponade may be caused by underlying Castleman's disease.

    PubMed

    Atay, Hilmi; Kelkitli, Engin; Okuyucu, Muhammed; Yildiz, Levent; Turgut, Mehmet

    2015-05-01

    Castleman's disease is a rarely observed lymphoproliferative disease. In the literature, various signs and symptoms of the disease have been reported; one of these is secondary cardiac tamponade. We describe the case of a 41-year-old man who developed cardiac tamponade during examination, and who was later diagnosed with Castleman's disease, based on his lymph node biopsies.

  17. Oral manifestations caused by the linear IgA disease.

    PubMed

    Eguia del Valle, Asier; Aguirre Urízar, José Manuel; Martínez Sahuquillo, Angel

    2004-01-01

    The Linear IgA deposit related disease or Linear IgA disease (LAD) is a chronic, uncommon and autoimmunological mucocutaneous disease, characterised by linear IgA deposits along the basement membrane zone. In mainly cases, moreover cutaneous lesions, there are oral mucosal and other mucosal lesions. There are also, some cases published of Linear IgA disease limited to oral mucosa. The known of this disease is important for the establishment of a correct differential diagnosis in cases of blistering mucocutaneous diseases. In this paper, we analyze the most important features of this disease, attending specially to the oral manifestations.

  18. Comparative Pathogenomics of Bacteria Causing Infectious Diseases in Fish

    PubMed Central

    Sudheesh, Ponnerassery S.; Al-Ghabshi, Aliya; Al-Mazrooei, Nashwa; Al-Habsi, Saoud

    2012-01-01

    Fish living in the wild as well as reared in the aquaculture facilities are susceptible to infectious diseases caused by a phylogenetically diverse collection of bacterial pathogens. Control and treatment options using vaccines and drugs are either inadequate, inefficient, or impracticable. The classical approach in studying fish bacterial pathogens has been looking at individual or few virulence factors. Recently, genome sequencing of a number of bacterial fish pathogens has tremendously increased our understanding of the biology, host adaptation, and virulence factors of these important pathogens. This paper attempts to compile the scattered literature on genome sequence information of fish pathogenic bacteria published and available to date. The genome sequencing has uncovered several complex adaptive evolutionary strategies mediated by horizontal gene transfer, insertion sequence elements, mutations and prophage sequences operating in fish pathogens, and how their genomes evolved from generalist environmental strains to highly virulent obligatory pathogens. In addition, the comparative genomics has allowed the identification of unique pathogen-specific gene clusters. The paper focuses on the comparative analysis of the virulogenomes of important fish bacterial pathogens, and the genes involved in their evolutionary adaptation to different ecological niches. The paper also proposes some new directions on finding novel vaccine and chemotherapeutic targets in the genomes of bacterial pathogens of fish. PMID:22675651

  19. Historical perspectives on music as a cause of disease.

    PubMed

    Kennaway, James

    2015-01-01

    The relationship between music and medicine is generally understood in the benign context of music therapy, but, as this chapter shows, there is a long parallel history of medical theories that suggest that music can cause real physical and mental illness. During the seventeenth and eighteenth centuries, the idea of music as an expression of universal harmony was challenged by a more mechanistic model of nervous stimulation. By the 1790s, there was a substantial discourse on the dangers of musical overstimulation to health in medicine, literature, and etiquette books. During the nineteenth century, the sense of music as a pathogenic stimulant gained in influence. It was often linked to fears about sexuality, female gynecological health, and theories of hypnosis and degeneration. In the twentieth century, the debate on the medical perils of the wrong kinds of music became overtly politicized in Germany and the Soviet Union. Likewise, the opponents of jazz, particularly in the United States, often turned to medicine to fend off its supposed social, moral, and physical consequences. The Cold War saw an extensive discourse on the idea of musical "brainwashing," that rumbled on into the 1990s. Today, regular media panics about pathological music are mirrored by alarming evidence of the deliberate use of music to harm listeners in the context of the so-called War on Terror. Can music make you ill? Music therapy is a common if perhaps rather neglected part of medicine, but its diametric opposite, the notion that music might lead to real mental and physical illness, may seem improbable. In fact, over the last two hundred years, there have been many times when as much was written about the medical dangers of music as about its potential benefits. Since the eighteenth century, fears about music's effects on the nerves and the mind have created a remarkably extensive discourse on pathological music based on a view of both music and the causation of disease as matters of

  20. Mycobacterium avium subspecies paratuberculosis causes Crohn's disease in some inflammatory bowel disease patients.

    PubMed

    Naser, Saleh A; Sagramsingh, Sudesh R; Naser, Abed S; Thanigachalam, Saisathya

    2014-06-21

    Crohn's disease (CD) is a chronic inflammatory condition that plagues millions all over the world. This debilitating bowel disease can start in early childhood and continue into late adulthood. Signs and symptoms are usually many and multiple tests are often required for the diagnosis and confirmation of this disease. However, little is still understood about the cause(s) of CD. As a result, several theories have been proposed over the years. One theory in particular is that Mycobacterium avium subspecies paratuberculosis (MAP) is intimately linked to the etiology of CD. This fastidious bacterium also known to cause Johne's disease in cattle has infected the intestines of animals for years. It is believed that due to the thick, waxy cell wall of MAP it is able to survive the process of pasteurization as well as chemical processes seen in irrigation purification systems. Subsequently meat, dairy products and water serve as key vehicles in the transmission of MAP infection to humans (from farm to fork) who have a genetic predisposition, thus leading to the development of CD. The challenges faced in culturing this bacterium from CD are many. Examples include its extreme slow growth, lack of cell wall, low abundance, and its mycobactin dependency. In this review article, data from 60 studies showing the detection and isolation of MAP by PCR and culture techniques have been reviewed. Although this review may not be 100% comprehensive of all studies, clearly the majority of the studies overwhelmingly and definitively support the role of MAP in at least 30%-50% of CD patients. It is very possible that lack of detection of MAP from some CD patients may be due to the absence of MAP role in these patients. The latter statement is conditional on utilization of methodology appropriate for detection of human MAP strains. Ultimately, stratification of CD and inflammatory bowel disease patients for the presence or absence of MAP is necessary for appropriate and effective

  1. Epileptic activity in Alzheimer's disease: causes and clinical relevance.

    PubMed

    Vossel, Keith A; Tartaglia, Maria C; Nygaard, Haakon B; Zeman, Adam Z; Miller, Bruce L

    2017-04-01

    Epileptic activity is frequently associated with Alzheimer's disease; this association has therapeutic implications, because epileptic activity can occur at early disease stages and might contribute to pathogenesis. In clinical practice, seizures in patients with Alzheimer's disease can easily go unrecognised because they usually present as non-motor seizures, and can overlap with other symptoms of the disease. In patients with Alzheimer's disease, seizures can hasten cognitive decline, highlighting the clinical relevance of early recognition and treatment. Some evidence indicates that subclinical epileptiform activity in patients with Alzheimer's disease, detected by extended neurophysiological monitoring, can also lead to accelerated cognitive decline. Treatment of clinical seizures in patients with Alzheimer's disease with select antiepileptic drugs (AEDs), in low doses, is usually well tolerated and efficacious. Moreover, studies in mouse models of Alzheimer's disease suggest that certain classes of AEDs that reduce network hyperexcitability have disease-modifying properties. These AEDs target mechanisms of epileptogenesis involving amyloid β and tau. Clinical trials targeting network hyperexcitability in patients with Alzheimer's disease will identify whether AEDs or related strategies could improve their cognitive symptoms or slow decline.

  2. Living with intestinal failure caused by Crohn disease: not letting the disease conquer life.

    PubMed

    Carlsson, Eva; Persson, Eva

    2015-01-01

    This article reports the findings of what it means to live with intestinal failure caused by Crohn disease and how it influences daily life. Ten patients, 7 with an ostomy and 7 on home parenteral nutrition followed up at an outpatient clinic for patients with intestinal failure, were interviewed using a qualitative, phenomenological-hermeneutic method. The analysis of the transcribed data is described thematically and resulted in 3 main themes; (a) struggling to not be controlled by the disease, (b) walking on a thin thread, and (c) being seen as a person, not just as a patient. These themes led to the comprehensive understanding that living with intestinal failure was interpreted as the criticality of maintaining control over one's life and body while maintaining autonomy and not letting the disease conquer life. Life entails a constant struggle with much planning to live as normally as possible and get the most out of life. It was of great importance to be seen as a person and not just as a disease, affirm that life as it is has meaning, there is a state of suffering related to the disease, there are existential issues, and suffering is related to care.

  3. Diseases and Causes of Death in European Bats: Dynamics in Disease Susceptibility and Infection Rates

    PubMed Central

    Mühldorfer, Kristin; Speck, Stephanie; Kurth, Andreas; Lesnik, René; Freuling, Conrad; Müller, Thomas; Kramer-Schadt, Stephanie; Wibbelt, Gudrun

    2011-01-01

    Background Bats receive increasing attention in infectious disease studies, because of their well recognized status as reservoir species for various infectious agents. This is even more important, as bats with their capability of long distance dispersal and complex social structures are unique in the way microbes could be spread by these mammalian species. Nevertheless, infection studies in bats are predominantly limited to the identification of specific pathogens presenting a potential health threat to humans. But the impact of infectious agents on the individual host and their importance on bat mortality is largely unknown and has been neglected in most studies published to date. Methodology/Principal Findings Between 2002 and 2009, 486 deceased bats of 19 European species (family Vespertilionidae) were collected in different geographic regions in Germany. Most animals represented individual cases that have been incidentally found close to roosting sites or near human habitation in urban and urban-like environments. The bat carcasses were subjected to a post-mortem examination and investigated histo-pathologically, bacteriologically and virologically. Trauma and disease represented the most important causes of death in these bats. Comparative analysis of pathological findings and microbiological results show that microbial agents indeed have an impact on bats succumbing to infectious diseases, with fatal bacterial, viral and parasitic infections found in at least 12% of the bats investigated. Conclusions/Significance Our data demonstrate the importance of diseases and infectious agents as cause of death in European bat species. The clear seasonal and individual variations in disease prevalence and infection rates indicate that maternity colonies are more susceptible to infectious agents, underlining the possible important role of host physiology, immunity and roosting behavior as risk factors for infection of bats. PMID:22216354

  4. Construction of a System for the Strawberry Nursery Production towards Elimination of Latent Infection of Anthracnose Fungi by a Combination of PCR and Microtube Hybridization

    PubMed Central

    Furuta, Kazuyoshi; Nagashima, Saki; Inukai, Tsuyoshi; Masuta, Chikara

    2017-01-01

    One of the major problems in strawberry production is difficulty in diagnosis of anthracnose caused by Colletotrichum acutatum or Glomerella cingulata in latent infection stage. We here developed a diagnostic tool for the latent infection consisting of initial culturing of fungi, DNA extraction, synthesis of PCR-amplified probes and microtube hybridization (MTH) using a macroarray. The initial culturing step is convenient to lure the fungi out of the plant tissues, and to extract PCR-inhibitor-free DNA directly from fungal hyphae. For specific detection of the fungi, PCR primers were designed to amplify the fungal MAT1-2 gene. The subsequent MTH step using the PCR products as probes can replace the laborious electrophoresis step providing us sequence information and high-throughput screening. Using this method, we have conducted a survey for a few thousands nursery plants every year for three consecutive years, and finally succeeded in eliminating latent infection in the third year of challenge. PMID:28167891

  5. Blackberry Yellow Vein Disease is Caused by Multiple Virus Complexes

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Blackberry yellow vein disease, with symptoms of vein clearing, yellow mottling, ringspots and plant decline has been observed in blackberry in the southeastern United States since about 2000. At least six viruses have been identified by cloning and sequencing of double-stranded RNA from diseased p...

  6. Legionella (Legionnaires' Disease and Pontiac Fever): Causes and Transmission

    MedlinePlus

    ... disease when they breathe in small droplets of water in the air that contain the bacteria. Less commonly, people can get Legionnaires’ disease by aspiration of drinking water. This happens when water “goes down the ...

  7. Can Epiphytes reduce disease symptoms caused by Phytophthora ramorum

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Leaf infection of ornamental species by Phytophthora ramorum has a significant impact on the spread of this disease. Fungicides have had limited effects on controlling this disease. With increasing concerns that repeated fungicide applications will exasperate the potential for fungicide resistance...

  8. Co-morditities of environmental diseases: A common cause

    PubMed Central

    2014-01-01

    The global pandemic of non-vector borne environmental diseases may, in large part, be attributed to chronic exposures to ever increasing levels of exogenous lipophilic chemicals. These chemicals include persistent organic pollutants, semi-volatile compounds and low molecular weight hydrocarbons. Such chemicals facilitate the sequential absorption of otherwise not absorbed more toxic hydrophilic species that attack numerous body organs and systems, leading to environmental disease. Co-morbidities of non-communicable environmental diseases are alarmingly high, with as many as half of all individuals chronically ill with two or more diseases. Co-morbidity is to be anticipated, since all of the causative chemicals identified have independently been shown to trigger the individual diseases. PMID:26109888

  9. Causes and histopathology of ascending aortic disease in children and young adults

    PubMed Central

    Jain, Deepali; Dietz, Harry C.; Oswald, Gretchen L.; Maleszewski, Joseph J.; Halushka, Marc K.

    2011-01-01

    Background Ascending aortic diseases (aneurysms, dissections, and stenosis) and associated aortic valve disease are rare but important causes of morbidity and mortality in children and young adults. Certain genetic causes, such as Marfan syndrome and congenital bicuspid aortic valve disease, are well known. However, other rarer genetic and nongenetic causes of aortic disease exist. Methods We performed an extensive literature search to identify known causes of ascending aortic pathology in children and young adults. We catalogued both aortic pathologies and other defining systemic features of these diseases. Results We describe 17 predominantly genetic entities that have been associated with thoracic aortic disease in this age group. Conclusions While extensive literature on the common causes of ascending aortic disease exists, there is a need for better histologic documentation of aortic pathology in rarer diseases. PMID:19926309

  10. Mycobacterium avium subspecies paratuberculosis causes Crohn's disease in some inflammatory bowel disease patients

    PubMed Central

    Naser, Saleh A; Sagramsingh, Sudesh R; Naser, Abed S; Thanigachalam, Saisathya

    2014-01-01

    Crohn’s disease (CD) is a chronic inflammatory condition that plagues millions all over the world. This debilitating bowel disease can start in early childhood and continue into late adulthood. Signs and symptoms are usually many and multiple tests are often required for the diagnosis and confirmation of this disease. However, little is still understood about the cause(s) of CD. As a result, several theories have been proposed over the years. One theory in particular is that Mycobacterium avium subspecies paratuberculosis (MAP) is intimately linked to the etiology of CD. This fastidious bacterium also known to cause Johne’s disease in cattle has infected the intestines of animals for years. It is believed that due to the thick, waxy cell wall of MAP it is able to survive the process of pasteurization as well as chemical processes seen in irrigation purification systems. Subsequently meat, dairy products and water serve as key vehicles in the transmission of MAP infection to humans (from farm to fork) who have a genetic predisposition, thus leading to the development of CD. The challenges faced in culturing this bacterium from CD are many. Examples include its extreme slow growth, lack of cell wall, low abundance, and its mycobactin dependency. In this review article, data from 60 studies showing the detection and isolation of MAP by PCR and culture techniques have been reviewed. Although this review may not be 100% comprehensive of all studies, clearly the majority of the studies overwhelmingly and definitively support the role of MAP in at least 30%-50% of CD patients. It is very possible that lack of detection of MAP from some CD patients may be due to the absence of MAP role in these patients. The latter statement is conditional on utilization of methodology appropriate for detection of human MAP strains. Ultimately, stratification of CD and inflammatory bowel disease patients for the presence or absence of MAP is necessary for appropriate and effective

  11. "Moya-moya' disease caused by cranial trauma.

    PubMed

    Fernandez-Alvarez, E; Pineda, M; Royo, C; Manzanares, R

    1979-01-01

    A case of "moya-moya" disease of a 12-year-old boy is reported. The clinical history started at 3 years 2 months after cranial trauma. The patient developed mental retardation, hemiparesis and seizures.

  12. Bovine diseases causing neurological signs and death in Mexican feedlots.

    PubMed

    Ramírez-Romero, Rafael; Ramírez-Hernández, Cecilia; García-Márquez, Luis Jorge; Macedo-Barragán, Rafael Julio; Martínez-Burnes, Julio; López-Mayagoitia, Alfonso

    2014-06-01

    The number of large feedlot operations, similar to that of USA and Canada, has notably increased in Mexico in the last three decades. Clinical and laboratory diagnoses of neurological diseases in feedlot cattle are crucial in Mexico and Central America because of the high incidence of bovine paralytic rabies (BPR). Because of its zoonotic potential, BPR must be promptly diagnosed and differentiated from other bovine neurological diseases such as thrombotic meningoencephalitis (TME), polioencephalomalacia (PEM) and botulism. More recently, BPR and botulism have been diagnosed with increasing frequency in Mexican feedlots. Neither BPR nor botulism has relevant gross lesions, thus post-mortem diagnosis without laboratory support is impossible. Herein, we describe five outbreaks of neurological diseases in Mexican feedlots in which BPR, botulism and PEM were diagnosed either independently or in combination. A diagram illustrating the most conspicuous pathologic findings and ancillary laboratory test required to confirm the diagnoses of these neurological diseases in feedlot cattle is proposed.

  13. Lipophilic chemical exposure as a cause of cardiovascular disease

    PubMed Central

    2013-01-01

    Environmental chemical exposure has been linked to numerous diseases in humans. These diseases include cancers; neurological and neurodegenerative diseases; metabolic disorders including type 2 diabetes, metabolic syndrome and obesity; reproductive and developmental disorders; and endocrine disorders. Many studies have associated the link between exposures to environmental chemicals and cardiovascular disease (CVD). These chemicals include persistent organic pollutants (POPs); the plastic exudates bisphenol A and phthalates; low molecular weight hydrocarbons (LMWHCs); and poly nuclear aromatic hydrocarbons (PAHs). Here it is reported that though the chemicals reported on differ widely in chemical properties and known points of attack in humans, a common link exists between them. All are lipophilic species that are found in serum. Environmentally induced CVD is related to total lipophilic chemical load in the blood. Lipophiles serve to promote the absorption of otherwise not absorbed toxic hydrophilic species that promote CVD. PMID:24179429

  14. Lipophilic chemical exposure as a cause of cardiovascular disease.

    PubMed

    Zeliger, Harold I

    2013-06-01

    Environmental chemical exposure has been linked to numerous diseases in humans. These diseases include cancers; neurological and neurodegenerative diseases; metabolic disorders including type 2 diabetes, metabolic syndrome and obesity; reproductive and developmental disorders; and endocrine disorders. Many studies have associated the link between exposures to environmental chemicals and cardiovascular disease (CVD). These chemicals include persistent organic pollutants (POPs); the plastic exudates bisphenol A and phthalates; low molecular weight hydrocarbons (LMWHCs); and poly nuclear aromatic hydrocarbons (PAHs). Here it is reported that though the chemicals reported on differ widely in chemical properties and known points of attack in humans, a common link exists between them. All are lipophilic species that are found in serum. Environmentally induced CVD is related to total lipophilic chemical load in the blood. Lipophiles serve to promote the absorption of otherwise not absorbed toxic hydrophilic species that promote CVD.

  15. Pelvic hydatid disease: CT and MRI findings causing sciatica.

    PubMed

    Sanal, Hatice Tuba; Kocaoglu, Murat; Bulakbasi, Nail; Yildirim, Duzgun

    2007-01-01

    Pelvic masses, especially hydatid disease, rarely present with sciatica (1, 2). We present the computed tomography (CT) and the magnetic resonance imaging (MRI) findings of a 49-year-old female patient with presacral hydatid disease, who was evaluated for her sciatica. We also want to emphasize the importance of assessing the pelvis of patients with symptoms and clinical findings that are inconsistent and that cannot be satisfactorily explained by the spinal imaging findings.

  16. Chemotherapy Side Effects: A Cause of Heart Disease?

    MedlinePlus

    ... rare — and not all chemotherapy drugs carry the potential side effect of heart damage. Some anti-cancer treatments may cause temporary heart damage by weakening the heart muscle. These treatments include: A class of drugs known ...

  17. Gastrointestinal diseases of Napoleon in Saint Helena: causes of death.

    PubMed

    Di Costanzo, Jacques

    2002-01-01

    The fact that Napoleon Ist died from gastric cancer seems to be well established. Arguments for the hypothesis of chronic arsenic poisoning have recently been developed in the literature. This study, focused on the gastrointestinal diseases of Napoleon in Saint Helena, is based on a confrontation between the clinical semiological anamnesis and the anatomical data in the autopsy report by F. Antommarchi. Napoleon presented several gastrointestinal diseases: gall-bladder lithiasis complicated with angiocholitis, chronic colitis and certainly a gastric cancer. Death was consecutive to perforation of the gastric lesion leading to haemorrhagic vomitis and multiorgan failure. The description of the gastric lesions during autopsy is consistent with the diagnosis of cancer. The course of the clinical events is closely correlated with the anatomic lesions. There is strong evidence that Napoleon died from an acute complication of his gastric disease.

  18. Endoplasmic reticulum stress: The cause and solution to Huntington's disease?

    PubMed

    Jiang, Yuwei; Chadwick, Sarah R; Lajoie, Patrick

    2016-10-01

    Accumulation of misfolded proteins is a hallmark of many human diseases, including several incurable neurological disorders, such as Huntington's disease (HD). In HD, expansion of a polyglutamine stretch within the first exon of the Huntingtin protein (Htt) leads to Htt misfolding, aberrant protein aggregation, and progressive appearance of disease symptoms. Several studies in various organisms (from yeast to humans) have identified the accumulation of misfolded secretory proteins in the endoplasmic reticulum (ER stress) as a crucial determinant of cellular toxicity in HD. In this review, we highlight the recent research linking HD to ER stress. We also discuss how the modulation of signaling pathways responsible for coping with misfolded protein accumulation in the ER may constitute attractive methods to reduce toxicity and identify new therapeutic targets for treatment of HD. This article is part of a Special Issue entitled SI:ER stress.

  19. Molecular mechanisms of disease-causing missense mutations

    PubMed Central

    Stefl, Shannon; Nishi, Hafumi; Petukh, Marharyta; Panchenko, Anna R.; Alexov, Emil

    2013-01-01

    Genetic variations resulting in a change of amino acid sequence can have a dramatic effect on stability, hydrogen bond network, conformational dynamics, activity and many other physiologically important properties of proteins. The substitutions of only one residue in a protein sequence, so-called missense mutations, can be related to many pathological conditions, and may influence susceptibility to disease and drug treatment. The plausible effects of missense mutations range from affecting the macromolecular stability to perturbing macromolecular interactions and cellular localization. Here we review the individual cases and genome-wide studies which illustrate the association between missense mutations and diseases. In addition we emphasize that the molecular mechanisms of effects of mutations should be revealed in order to understand the disease origin. Finally we report the current state-of-the-art methodologies which predict the effects of mutations on protein stability, the hydrogen bond network, pH-dependence, conformational dynamics and protein function. PMID:23871686

  20. Node of Ranvier disruption as a cause of neurological diseases

    PubMed Central

    Susuki, Keiichiro

    2013-01-01

    Dysfunction and/or disruption of nodes of Ranvier are now recognized as key contributors to the pathophysiology of various neurological diseases. One reason is that the excitable nodal axolemma contains a high density of Nav (voltage-gated Na+ channels) that are required for the rapid and efficient saltatory conduction of action potentials. Nodal physiology is disturbed by altered function, localization, and expression of voltage-gated ion channels clustered at nodes and juxtaparanodes, and by disrupted axon–glial interactions at paranodes. This paper reviews recent discoveries in molecular/cellular neuroscience, genetics, immunology, and neurology that highlight the critical roles of nodes of Ranvier in health and disease. PMID:23834220

  1. RNA Viruses that Cause Hemorrhagic, Encephalitic, and Febrile Disease

    DTIC Science & Technology

    1990-01-01

    platelet counts prior to onset of therapy. Treatment resulted in re- Ebola/Marburg versal of clinical disease including resolu- tion of hemorrhage...hemorrhagic fever-a de fiebre hemorragica argentina tratados con public problem and a field of research. Bull plasma immune. Medicina (Buenos Aires

  2. Causes of Charcot-Marie-Tooth Disease (CMT)

    MedlinePlus

    ... motor and sensory problems in the body’s extremities. Inheritance patterns in CMT Although CMT can look very similar ... from a parent will have the disease, as will the parent. When CMT is passed on in an autosomal dominant pattern, it can be easy to recognize in the ...

  3. Sooty Mould Disease Caused by Leptoxyphium kurandae on Kenaf

    PubMed Central

    Choi, In-Young; Kang, Chan-Ho; Lee, Geon-Hwi; Park, Ji-Hyun

    2015-01-01

    In September 2013, we discovered sooty mould growing on kenaf with the extrafloral nectaries in Iksan, Korea and identified the causative fungus as Leptoxyphium kurandae based on morphological characteristics and phylogenetic analyses. This is the first report of sooty mould caused by L. kurandae on kenaf in Korea and globally. PMID:26539054

  4. "Kissing bugs": potential disease vectors and cause of anaphylaxis.

    PubMed

    Klotz, John H; Dorn, Patricia L; Logan, Joy L; Stevens, Lori; Pinnas, Jacob L; Schmidt, Justin O; Klotz, Stephen A

    2010-06-15

    Physicians in the United States should familiarize themselves with "kissing bugs" endemic to their area of practice and appreciate the medical implications of their bites. Bite victims often seek advice from physicians about allergic reactions as well as the risk of contracting Chagas disease. Physicians are generally knowledgeable about the role of kissing bugs in the transmission of Trypanosoma cruzi in Latin America. However, they may be unaware of (1) severe allergic reactions to kissing bug salivary antigens, (2) the widespread occurrence of T. cruzi amongst vertebrate hosts of kissing bugs, and (3) the incidence of T. cruzi among kissing bugs (T. cruzi may infect >50% of sampled bugs). Despite the potential for Chagas disease transmission, the major concern regarding kissing bugs in the United States is anaphylactic reactions to their bites resulting in frequent emergency department visits, especially in areas of endemicity in the Southwest.

  5. Kikuchi's Disease: A Rare Cause of Fever of Unknown Origin.

    PubMed

    Jalal-ud-din, Mir; Noor, Muhammad Munir; Ali, Shadab; Ali, Rashid

    2015-04-01

    Kikuchi Fujimoto Disease (KFD) or histiocytic necrotizing lymphadenitis can present with unexplained fever and lymphadenopathy. It is often mistaken for more serious conditions like malignant lymphoma or tuberculosis. First case was described by Kikuchi in Japan, very few cases have been reported in Pakistan. A middle aged female presented with fever and body aches for one month. She was investigated extensively for pyrexia of unknown origin, all of which came out to be normal except a raised ESR. Anti-tuberculous drugs were started on clinical suspicion, with no improvement after a month. Later, a detailed physical examination revealed cervical lymphadenopathy. One of the lymph nodes was excised and biopsied. The histopathology suggested Kikuchi's disease. Oral Prednisolone was started showing improvement. Her fever subsided and lymph nodes disappeared at the follow-up visit. No relapse was encountered in the subsequent visits.

  6. Cat scratch disease causing hepatic masses after liver transplant.

    PubMed

    Thudi, Kavitha R; Kreikemeier, Jeffrey T; Phillips, Nancy J; Salvalaggio, Paolo R; Kennedy, Donald J; Hayashi, Paul H

    2007-02-01

    Hepatic cat scratch disease is rarely reported in liver transplant recipients and has never been reported with discrete liver lesions in the graft. A 52-year-old woman was transplanted for hepatitis C cirrhosis and hepatocellular carcinoma. Her posttransplant course was uneventful. She presented 2.7 years after transplantation with fever of unknown origin and went on to develop multiple and diffuse discrete liver lesions. Despite an extensive work-up including percutaneous and laparoscopic biopsies, a subsegmental resection that included one of these masses was required to make the diagnosis of Bartonella henselae infection. Serologic tests were equivocal. Histology was consistent with cat scratch disease of the liver, and polymerase chain reaction (PCR) testing of the resected tissue confirmed the diagnosis. Response to doxycycline was rapid. Fevers resolved within 7 days. Repeat abdominal CT scan showed reduction of the liver masses. Cat scratch disease should be considered in postliver transplant patients presenting with fever and liver lesions, especially if close contact with cats has occurred. Diagnosis by PCR testing of involved tissue is preferred when serologies are equivocal due to immunosuppression.

  7. Factors promoting acute and chronic diseases caused by yersiniae.

    PubMed Central

    Brubaker, R R

    1991-01-01

    The experimental system constructed with the medically significant yersiniae provides a powerful basic model for comparative study of factors required for expression of acute versus chronic disease. The system exploits the close genetic similarity between Yersinia pestis, the etiological agent of bubonic plague, and enteropathogenic Yersinia pseudotuberculosis and Yersinia enterocolitica. Y. pestis possesses three plasmids, of which one, shared by the enteropathogenic species, mediates a number of virulence factors that directly or indirectly promote survival within macrophages and immunosuppression. The two remaining plasmids are unique and encode functions that promote acute disease by enhancing bacterial dissemination in tissues and resistance to phagocytosis by neutrophils and monocytes. These properties are replaced in the enteropathogenic yersiniae by host cell invasins and an adhesin which promote chronic disease; the latter are cryptic in Y. pestis. Additional distinctions include specific mutational losses in Y. pestis which result in loss of fitness in natural environments plus gain of properties that facilitate transmission and infection via fleabite. Images PMID:1889045

  8. Attributions about Cause of Illness in Chronic Obstructive Pulmonary Disease

    PubMed Central

    Hoth, Karin F.; Wamboldt, Frederick S.; Bowler, Russell; Make, Barry; Holm, Kristen

    2010-01-01

    Objective Patients’ beliefs about the causes of their illness have been associated with emotional adjustment and behavioral outcomes in several medical conditions; however, few studies have examined illness attributions among patients with COPD. In the current study, patterns of patients’ causal attributions for COPD were identified and examined in relation to health behaviors and symptoms. Method Three-hundred and ninety-four patients with COPD and ≥10 pack year history of smoking completed a self-report questionnaire that included the Illness Perception Questionnaire- Revised (IPQ-R). Results A factor analysis of the IPQ-R cause items using principal axis factoring yielded four individual items (i.e., smoking, heredity, pollution, and personal behavior) and one large factor that was primarily driven by psychological attributions. Ninety-three percent of patients agreed or strongly agreed that smoking was a cause of their COPD. Higher scores on the large IPQ-R factor were associated with reduced quality of life (r=.25, p<.001) and symptoms of anxiety (r=.33, p<.001) and depression (r=.31, p<.001), indicating that patients who attributed their COPD to psychological factors were more likely to have poorer emotional adjustment and quality of life. Conclusions Our finding of one large factor with several stand-alone items is in contrast with previous research that has derived a multi-factor structure for the cause items of the IPQ-R in other chronic illness populations. This difference may be due to the importance of smoking, environmental exposures, and heredity in the development of COPD. Future research should expand upon these specific attributions in COPD‥ PMID:21511077

  9. Diseases of Landscape Ornamentals. Slide Script.

    ERIC Educational Resources Information Center

    Powell, Charles C.; Sydnor, T. Davis

    This slide script, part of a series of slide scripts designed for use in vocational agriculture classes, deals with recognizing and controlling diseases found on ornamental landscape plants. Included in the script are narrations for use with a total of 80 slides illustrating various foliar diseases (anthracnose, black spot, hawthorn leaf blight,…

  10. Unicentric Castleman’s disease associated with end stage renal disease caused by amyloidosis

    PubMed Central

    Eroglu, Eray; Kocyigit, Ismail; Unal, Aydin; Sipahioglu, Murat Hayri; Akgun, Hulya; Kaynar, Leylagul; Tokgoz, Bulent; Oymak, Oktay

    2017-01-01

    Castleman’s disease (CD), also known as angiofolicular lymph node hyperplasia, is a rare heterogenous group of lymphoproliferative disorders. Histologically, it can be classified as hyaline vascular type, plasma cell type, or mixed type. Clinically two different subtypes of the CD are present: Unicentric and multicentric. Unicentric CD is generally asymptomatic and associated with hyaline vascular type, and its diagnoses depend on the localized lymphadenopathy on examination or imaging studies. However, multicentric CD presents with generalized lymphadenopathy and systemic symptoms including malaise, fever, night sweats, weight loss, and it is associated with the plasma cell type and mix type. Herein, we report a patient with unicentric CD of the plasma cell type without systemic symptoms, who developed end stage renal failure caused by amyloidosis 6 years after onset of CD. PMID:28352636

  11. Lipoprotein X Causes Renal Disease in LCAT Deficiency.

    PubMed

    Ossoli, Alice; Neufeld, Edward B; Thacker, Seth G; Vaisman, Boris; Pryor, Milton; Freeman, Lita A; Brantner, Christine A; Baranova, Irina; Francone, Nicolás O; Demosky, Stephen J; Vitali, Cecilia; Locatelli, Monica; Abbate, Mauro; Zoja, Carlamaria; Franceschini, Guido; Calabresi, Laura; Remaley, Alan T

    2016-01-01

    Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. The aim of our study was to determine if LpX is nephrotoxic and to gain insight into the pathogenesis of FLD renal disease. We administered a synthetic LpX, nearly identical to endogenous LpX in its physical, chemical and biologic characteristics, to wild-type and Lcat-/- mice. Our in vitro and in vivo studies demonstrated an apoA-I and LCAT-dependent pathway for LpX conversion to HDL-like particles, which likely mediates normal plasma clearance of LpX. Plasma clearance of exogenous LpX was markedly delayed in Lcat-/- mice, which have low HDL, but only minimal amounts of endogenous LpX and do not spontaneously develop renal disease. Chronically administered exogenous LpX deposited in all renal glomerular cellular and matrical compartments of Lcat-/- mice, and induced proteinuria and nephrotoxic gene changes, as well as all of the hallmarks of FLD renal disease as assessed by histological, TEM, and SEM analyses. Extensive in vivo EM studies revealed LpX uptake by macropinocytosis into mouse glomerular endothelial cells, podocytes, and mesangial cells and delivery to lysosomes where it was degraded. Endocytosed LpX appeared to be degraded by both human podocyte and mesangial cell lysosomal PLA2 and induced podocyte secretion of pro-inflammatory IL-6 in vitro and renal Cxl10 expression in Lcat-/- mice. In conclusion, LpX is a nephrotoxic particle that in the absence of Lcat induces all of the histological and functional hallmarks of FLD and hence may serve as a biomarker for monitoring recombinant LCAT therapy. In addition, our studies suggest that LpX-induced loss of endothelial barrier function and release of cytokines by renal glomerular cells likely plays a role in the initiation and progression of FLD nephrosis.

  12. Lipoprotein X Causes Renal Disease in LCAT Deficiency

    PubMed Central

    Thacker, Seth G.; Vaisman, Boris; Pryor, Milton; Freeman, Lita A.; Brantner, Christine A.; Baranova, Irina; Francone, Nicolás O.; Demosky, Stephen J.; Vitali, Cecilia; Locatelli, Monica; Abbate, Mauro; Zoja, Carlamaria; Franceschini, Guido; Calabresi, Laura; Remaley, Alan T.

    2016-01-01

    Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. The aim of our study was to determine if LpX is nephrotoxic and to gain insight into the pathogenesis of FLD renal disease. We administered a synthetic LpX, nearly identical to endogenous LpX in its physical, chemical and biologic characteristics, to wild-type and Lcat-/- mice. Our in vitro and in vivo studies demonstrated an apoA-I and LCAT-dependent pathway for LpX conversion to HDL-like particles, which likely mediates normal plasma clearance of LpX. Plasma clearance of exogenous LpX was markedly delayed in Lcat-/- mice, which have low HDL, but only minimal amounts of endogenous LpX and do not spontaneously develop renal disease. Chronically administered exogenous LpX deposited in all renal glomerular cellular and matrical compartments of Lcat-/- mice, and induced proteinuria and nephrotoxic gene changes, as well as all of the hallmarks of FLD renal disease as assessed by histological, TEM, and SEM analyses. Extensive in vivo EM studies revealed LpX uptake by macropinocytosis into mouse glomerular endothelial cells, podocytes, and mesangial cells and delivery to lysosomes where it was degraded. Endocytosed LpX appeared to be degraded by both human podocyte and mesangial cell lysosomal PLA2 and induced podocyte secretion of pro-inflammatory IL-6 in vitro and renal Cxl10 expression in Lcat-/- mice. In conclusion, LpX is a nephrotoxic particle that in the absence of Lcat induces all of the histological and functional hallmarks of FLD and hence may serve as a biomarker for monitoring recombinant LCAT therapy. In addition, our studies suggest that LpX-induced loss of endothelial barrier function and release of cytokines by renal glomerular cells likely plays a role in the initiation and progression of FLD nephrosis. PMID:26919698

  13. Mapping global potential risk of mango sudden decline disease caused by fungus Ceratocystis fimbriata

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mango Sudden Decline (MSD), sometimes referred to as mango wilt, is an important disease of mango caused by one of the most significant fungal species causing disease in woody plants, Ceratocystis fimbriata. This species is mainly disseminated by the mango bark beetle, Hypocryphalus mangiferae (Steb...

  14. Helminths and helminthoses in Central Europe: diseases caused by cestodes (tapeworms).

    PubMed

    Auer, Herbert; Aspöck, Horst

    2014-10-01

    The second part of the overview "Helminths and helminthoses in Central Europe" is dedicated to the cestodes (tapeworms) and the diseases caused by cestodes. The overview comprises the spectrum of the most relevant species, describes their incidence, geographic distribution and the most important clinical symptoms and highlights the possibilities of diagnosis, treatment and prophylaxis of cestode-caused diseases.

  15. Mitochondrial dysfunction in psychiatric and neurological diseases: cause(s), consequence(s), and implications of antioxidant therapy.

    PubMed

    Kasote, Deepak M; Hegde, Mahabaleshwar V; Katyare, Surendra S

    2013-01-01

    Mitochondrial dysfunction is at the base of development and progression of several psychiatric and neurologic diseases with different etiologies. MtDNA/nDNA mutational damage, failure of endogenous antioxidant defenses, hormonal malfunction, altered membrane permeability, metabolic dysregulation, disruption of calcium buffering capacity and ageing have been found to be the root causes of mitochondrial dysfunction in psychatric and neurodegenerative diseases. However, the overall consequences of mitochondrial dysfunction are only limited to increase in oxidative/nitrosative stress and cellular energy crises. Thus far, extensive efforts have been made to improve mitochondrial function through specific cause-dependent antioxidant therapy. However, owing to complex genetic and interlinked causes of mitochondrial dysfunction, it has not been possible to achieve any common, unique supportive antioxidant therapeutic strategy for the treatment of psychiatric and neurologic diseases. Hence, we propose an antioxidant therapeutic strategy for management of consequences of mitochondrial dysfunction in psychiatric and neurologic diseases. It is expected that this will not only reduces oxidative stress, but also promote anaerobic energy production.

  16. Vibrio sp. causing Porites ulcerative white spot disease.

    PubMed

    Arboleda, Mark D M; Reichardt, Wolfgang T

    2010-06-11

    The causative agent of the Indo-Pacific coral disease, Porites ulcerative white spot syndrome (PUWS), that affects Porites spp. and a few other coral genera has so far remained unidentified. Inoculation of thiosulphate citrate bile sucrose (TCBS) agar with tissue material from Porites cylindrica infected with white spot produced colonies of approximately 3 mm diameter consisting of Gram-negative, motile, non-sucrose-fermenting, slightly curved rods with a minimum NaCl requirement of 0.3%. Three of these putative Vibrio sp. isolates were used for infection trials that included different stages of cell growth. Four modes of inoculation and 3 stages of bacterial cell growth were considered for testing Koch's postulates. Stationary phase cells proved more consistently infectious than did exponentially growing or starved cells using a 1-step immersion technique at cell concentrations of 10(4) cells ml(-1). A 1-step immersion technique proved more reliable in producing signs of white spot than did other techniques, such as injection, smearing and 2-step immersion of the inoculum. At inoculum densities >10(4) cells ml(-1) further signs of disease, such as tissue degradation and bleaching, also became evident. At elevated temperatures (>29 degrees C) bleaching remained absent for at least 2 mo from non-inoculated corals serving as controls, but was observed in artificially infected coral fragments. Of the 9 seawater aquaria containing healthy specimens of P. cylindrica, 6 showed signs of white spot 15 d after infection with an isolate tentatively identified as Vibrio sp. Based on 99% similarity of its 16S rRNA gene sequence and selected phenotypical features, this isolate revealed a close relationship to V. natriegens and V. parahaemolyticus.

  17. Environmental chemicals and autoimmune disease: cause and effect.

    PubMed

    Hess, Evelyn V

    2002-12-27

    Many important clues have been provided by the relationship of certain medications to lupus and other autoimmune syndromes. These are temporary conditions that resolve when the medication is removed. There are now over 70 such medications which have been reported related to these autoimmune conditions. Interest continues to grow in the potential for environmental substances to cause these syndromes. Among those under suspicion are hydrazines, tartrazines, hair dyes, trichloroethylene, industrial emissions and hazardous wastes. Other possible associations include silica, mercury, cadmium, gold and L canavanine. Two recognised outbreaks include 'toxic oil syndrome' related to contaminated rape seed oil in Spain in 1981 and exposure to a contaminated environmental substance associated with an autoimmune attack on muscle tissue in 1989. Recently, there have been proposals made for the definition and identification of environmentally associated immune disorders. The World Health Organisation (WHO) has also provided recent publications for other environmentally related problems. All these aspects will be presented and reviewed in detail.

  18. First report of anthracnose of Salsola tragus caused by Colletotrichum gloeosporioides in Russia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Salsola tragus L. (Russian thistle, tumbleweed), family Chenopodiaceae, is a problematic invasive weed in the western United States and a target of biological control efforts. In October of 2006, dying Salsola tragus L. plants were found along the Azov Sea at Chushka, Russia. About 40 plants in th...

  19. Indoxyl sulphate and kidney disease: Causes, consequences and interventions.

    PubMed

    Ellis, Robert J; Small, David M; Vesey, David A; Johnson, David W; Francis, Ross; Vitetta, Luis; Gobe, Glenda C; Morais, Christudas

    2016-03-01

    In the last decade, chronic kidney disease (CKD), defined as reduced renal function (glomerular filtration rate (GFR) < 60 mL/min per 1.73 m(2) ) and/or evidence of kidney damage (typically manifested as albuminuria) for at least 3 months, has become one of the fastest-growing public health concerns worldwide. CKD is characterized by reduced clearance and increased serum accumulation of metabolic waste products (uremic retention solutes). At least 152 uremic retention solutes have been reported. This review focuses on indoxyl sulphate (IS), a protein-bound, tryptophan-derived metabolite that is generated by intestinal micro-organisms (microbiota). Animal studies have demonstrated an association between IS accumulation and increased fibrosis, and oxidative stress. This has been mirrored by in vitro studies, many of which report cytotoxic effects in kidney proximal tubular cells following IS exposure. Clinical studies have associated IS accumulation with deleterious effects, such as kidney functional decline and adverse cardiovascular events, although causality has not been conclusively established. The aims of this review are to: (i) establish factors associated with increased serum accumulation of IS; (ii) report effects of IS accumulation in clinical studies; (iii) critique the reported effects of IS in the kidney, when administered both in vivo and in vitro; and (iv) summarize both established and hypothetical therapeutic options for reducing serum IS or antagonizing its reported downstream effects in the kidney.

  20. Patho-epigenetics of Infectious Diseases Caused by Intracellular Bacteria.

    PubMed

    Niller, Hans Helmut; Minarovits, Janos

    2016-01-01

    In multicellular eukaryotes including plants, animals and humans, epigenetic reprogramming may play a role in the pathogenesis of a wide variety of diseases. Recent studies revealed that in addition to viruses, pathogenic bacteria are also capable to dysregulate the epigenetic machinery of their target cells. In this chapter we focus on epigenetic alterations induced by bacteria infecting humans. Most of them are obligate or facultative intracellular bacteria that produce either bacterial toxins and surface proteins targeting the host cell membrane, or synthesise effector proteins entering the host cell nucleus. These bacterial products typically elicit histone modifications, i.e. alter the "histone code". Bacterial pathogens are capable to induce alterations of host cell DNA methylation patterns, too. Such changes in the host cell epigenotype and gene expression pattern may hinder the antibacterial immune response and create favourable conditions for bacterial colonization, growth, or spread. Epigenetic dysregulation mediated by bacterial products may also facilitate the production of inflammatory cytokines and other inflammatory mediators affecting the epigenotype of their target cells. Such indirect epigenetic changes as well as direct interference with the epigenetic machinery of the host cells may contribute to the initiation and progression of malignant tumors associated with distinct bacterial infections.

  1. Minamata disease: methylmercury poisoning in Japan caused by environmental pollution.

    PubMed

    Harada, M

    1995-01-01

    Minamata disease (M. d.) is methylmercury (MeHg) poisoning that occurred in humans who ingested fish and shellfish contaminated by MeHg discharged in waste water from a chemical plant (Chisso Co. Ltd.). It was in May 1956, that M. d. was first officially "discovered" in Minamata City, south-west region of Japan's Kyushu Island. The marine products in Minamata Bay displayed high levels of Hg contamination (5.61 to 35.7 ppm). The Hg content in hair of patients, their family and inhabitants of the Shiranui Sea coastline were also detected at high levels of Hg (max. 705 ppm). Typical symptoms of M. d. are as follows: sensory disturbances (glove and stocking type), ataxia, dysarthria, constriction of the visual field, auditory disturbances and tremor were also seen. Further, the fetus was poisoned by MeHg when their mothers ingested contaminated marine life (named congenital M. d.). The symptom of patients were serious, and extensive lesions of the brain were observed. While the number of grave cases with acute M. d. in the initial stage was decreasing, the numbers of chronic M. d. patients who manifested symptoms gradually over an extended period of time was on the increase. For the past 36 years, of the 2252 patients who have been officially recognized as having M. d., 1043 have died. This paper also discusses the recent remaining problems.

  2. [Alteration of biological rhythms causes metabolic diseases and obesity].

    PubMed

    Saderi, Nadia; Escobar, Carolina; Salgado-Delgado, Roberto

    2013-07-16

    The incidence of obesity worldwide has become a serious, constantly growing public health issue that reaches alarming proportions in some countries. To date none of the strategies developed to combat obesity have proved to be decisive, and hence there is an urgent need to address the problem with new approaches. Today, studies in the field of chronobiology have shown that our physiology continually adapts itself to the cyclical changes in the environment, regard-less of whether they are daily or seasonal. This is possible thanks to the existence of a biological clock in our hypothalamus which regulates the expression and/or activity of enzymes and hormones involved in regulating our metabolism, as well as all the homeostatic functions. It has been observed that this clock can be upset as a result of today's modern lifestyle, which involves a drop in physical activity during the day and the abundant ingestion of food during the night, among other factors, which together promote metabolic syndrome and obesity. Hence, the aim of this review is to summarise the recent findings that show the effect that altering the circadian rhythms has on the metabolism and how this can play a part in the development of metabolic diseases.

  3. [Kimura's disease: an unrecognized cause of adult-onset nephrotic syndrome with minimal change disease].

    PubMed

    Shehwaro, N; Langlois, A-L; Gueutin, V; Debchi, L; Charlotte, F; Rouvier, P; Rottembourg, J; Izzedine, H

    2014-02-01

    Kimura's disease (KD) is an angiolymphoid proliferative disorder of soft tissue with eosinophilia, with a predilection for head and neck regions in young Oriental men. Kidney disease is thought to be rare in KD. About a case of adult-onset nephrotic syndrome with minimal change disease, we comment Kimura's disease and its associated kidney damage. Kimura disease should be suspected and included in the diagnosis of adult-onset nephrotic syndrome with minimal change disease.

  4. Hand, foot, and mouth disease caused by coxsackievirus A6, Thailand, 2012.

    PubMed

    Puenpa, Jiratchaya; Chieochansin, Thaweesak; Linsuwanon, Piyada; Korkong, Sumeth; Thongkomplew, Siwanat; Vichaiwattana, Preyaporn; Theamboonlers, Apiradee; Poovorawan, Yong

    2013-04-01

    In Thailand, hand, foot, and mouth disease (HFMD) is usually caused by enterovirus 71 or coxsackievirus A16. To determine the cause of a large outbreak of HFMD in Thailand during June-August 2012, we examined patient specimens. Coxsackievirus A6 was the causative agent. To improve prevention and control, causes of HFMD should be monitored.

  5. Disease-causing mutations in genes of the complement system.

    PubMed

    Degn, Søren E; Jensenius, Jens C; Thiel, Steffen

    2011-06-10

    Recent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation, a central component of the innate immune system. Apart from impairment of immunity against microorganisms, it is known that hereditary deficiencies of this system predispose one to autoimmune conditions. Polymorphisms in complement genes are linked to, for example, atypical hemolytic uremia and age-dependent macular degeneration. The complement system comprises three convergent pathways of activation: the classical, the alternative, and the lectin pathway. The recently discovered lectin pathway is less studied, but polymorphisms in the plasma pattern-recognition molecule mannan-binding lectin (MBL) are known to impact its level, and polymorphisms in the MBL-associated serine protease-2 (MASP-2) result in defects of complement activation. Recent studies have described roles outside complement and immunity of another MBL-associated serine protease, MASP-3, in the etiology of 3MC syndrome, an autosomal-recessive disorder involving a spectrum of developmental features, including characteristic facial dysmorphism. Syndrome-causing mutations were identified in MASP1, encoding MASP-3 and two additional proteins, MASP-1 and MAp44. Furthermore, an association was discovered between 3MC syndrome and mutations in COLEC11, encoding CL-K1, another molecule of the lectin pathway. The findings were confirmed in zebrafish, indicating that MASP-3 and CL-K1 underlie an evolutionarily conserved pathway of embryonic development. Along with the discovery of a role of C1q in pruning synapses in mice, these recent advances point toward a broader role of complement in development. Here, we compare the functional immunologic consequences of "conventional" complement deficiencies with these newly described developmental roles.

  6. Disease-Causing Mutations in Genes of the Complement System

    PubMed Central

    Degn, Søren E.; Jensenius, Jens C.; Thiel, Steffen

    2011-01-01

    Recent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation, a central component of the innate immune system. Apart from impairment of immunity against microorganisms, it is known that hereditary deficiencies of this system predispose one to autoimmune conditions. Polymorphisms in complement genes are linked to, for example, atypical hemolytic uremia and age-dependent macular degeneration. The complement system comprises three convergent pathways of activation: the classical, the alternative, and the lectin pathway. The recently discovered lectin pathway is less studied, but polymorphisms in the plasma pattern-recognition molecule mannan-binding lectin (MBL) are known to impact its level, and polymorphisms in the MBL-associated serine protease-2 (MASP-2) result in defects of complement activation. Recent studies have described roles outside complement and immunity of another MBL-associated serine protease, MASP-3, in the etiology of 3MC syndrome, an autosomal-recessive disorder involving a spectrum of developmental features, including characteristic facial dysmorphism. Syndrome-causing mutations were identified in MASP1, encoding MASP-3 and two additional proteins, MASP-1 and MAp44. Furthermore, an association was discovered between 3MC syndrome and mutations in COLEC11, encoding CL-K1, another molecule of the lectin pathway. The findings were confirmed in zebrafish, indicating that MASP-3 and CL-K1 underlie an evolutionarily conserved pathway of embryonic development. Along with the discovery of a role of C1q in pruning synapses in mice, these recent advances point toward a broader role of complement in development. Here, we compare the functional immunologic consequences of “conventional” complement deficiencies with these newly described developmental roles. PMID:21664996

  7. Enteric hyperoxaluria: an important cause of end-stage kidney disease.

    PubMed

    Nazzal, Lama; Puri, Sonika; Goldfarb, David S

    2016-03-01

    Hyperoxaluria is a frequent complication of inflammatory bowel diseases, ileal resection and Roux-en-Y gastric bypass and is well-known to cause nephrolithiasis and nephrocalcinosis. The associated prevalence of chronic kidney disease and end-stage kidney disease (ESKD) is less clear but may be more consequential than recognized. In this review, we highlight three cases of ESKD due to enteric hyperoxaluria following small bowel resections. We review current information on the pathophysiology, complications and treatment of this complex disease.

  8. Acquired mitochondrial impairment as a cause of optic nerve disease.

    PubMed Central

    Sadun, A

    1998-01-01

    BACKGROUND: Blindness from an optic neuropathy recently occurred as an epidemic affecting 50,000 patients in Cuba (CEON) and had clinical features reminiscent of both tobacco-alcohol amblyopia (TAA) and Leber's hereditary optic neuropathy (Leber's; LHON). Selective damage to the papillomacular bundle was characteristic, and many patients also developed a peripheral neuropathy. Identified risk factors included vitamin deficiencies as well as exposure to methanol and cyanide. In all 3 syndromes, there is evidence that singular or combined insults to mitochondrial oxidative phosphorylation are associated with a clinically characteristic optic neuropathy. PURPOSE: First, to test the hypothesis that a common pathophysiologic mechanism involving impairment of mitochondria function and, consequently, axonal transport underlies both genetic optic nerve diseases such as Leber's and acquired toxic and nutritional deficiency optic neuropathies. According to this hypothesis, ATP depletion below a certain threshold leads to a blockage of orthograde axonal transport of mitochondria, which, in turn, leads to total ATP depletion and subsequent cell death. Second, to address several related questions, including (1) How does impaired energy production lead to optic neuropathy, particularly since it seems to relatively spare other metabolically active tissues, such as liver and heart? (2) Within the nervous system, why is the optic nerve, and most particularly the papillomacular bundle, so highly sensitive? Although there have been previous publications on the clinical features of the Cuban epidemic of blindness, the present hypothesis and the subsequent questions have not been previously addressed. METHODS: Patients in Cuba with epidemic optic neuropathy were personally evaluated through a comprehensive neuro-ophthalmologic examination. In addition, serum, lymphocytes for DNA analysis, cerebrospinal fluid (CSF), sural nerves, and eyes with attached optic nerves were obtained from

  9. NDRC: A Disease-Causing Genes Prioritized Method Based on Network Diffusion and Rank Concordance.

    PubMed

    Fang, Minghong; Hu, Xiaohua; Wang, Yan; Zhao, Junmin; Shen, Xianjun; He, Tingting

    2015-07-01

    Disease-causing genes prioritization is very important to understand disease mechanisms and biomedical applications, such as design of drugs. Previous studies have shown that promising candidate genes are mostly ranked according to their relatedness to known disease genes or closely related disease genes. Therefore, a dangling gene (isolated gene) with no edges in the network can not be effectively prioritized. These approaches tend to prioritize those genes that are highly connected in the PPI network while perform poorly when they are applied to loosely connected disease genes. To address these problems, we propose a new disease-causing genes prioritization method that based on network diffusion and rank concordance (NDRC). The method is evaluated by leave-one-out cross validation on 1931 diseases in which at least one gene is known to be involved, and it is able to rank the true causal gene first in 849 of all 2542 cases. The experimental results suggest that NDRC significantly outperforms other existing methods such as RWR, VAVIEN, DADA and PRINCE on identifying loosely connected disease genes and successfully put dangling genes as potential candidate disease genes. Furthermore, we apply NDRC method to study three representative diseases, Meckel syndrome 1, Protein C deficiency and Peroxisome biogenesis disorder 1A (Zellweger). Our study has also found that certain complex disease-causing genes can be divided into several modules that are closely associated with different disease phenotype.

  10. Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseases.

    PubMed

    Chu, Andrew S; Perlmutter, David H; Wang, Yan

    2014-01-01

    Alpha-1-antitrypsin deficiency (ATD) is one of the most common genetic causes of liver disease and is a prototype of liver diseases caused by the pathologic accumulation of aggregated mutant alpha-1-antitrypsin Z (ATZ) within liver cells. In the case of ATD-associated liver disease, the resulting "gain-of-function" toxicity can lead to serious clinical manifestations, including cirrhosis and hepatocellular carcinoma. Currently, the only definitive therapy for ATD-associated liver disease is liver transplantation, but recent efforts have demonstrated the exciting potential for novel therapies that target disposal of the mutant protein aggregates by harnessing a cellular homeostasis mechanism called autophagy. In this review, we will summarize research advances on autophagy and genetic liver diseases. We will discuss autophagy enhancer strategies for liver disease due to ATD and another genetic liver disease, inherited hypofibrinogenemia, caused by the proteotoxic effects of a misfolded protein. On the basis of recent evidence that autophagy plays a role in cellular lipid degradation, we also speculate about autophagy enhancer strategies for treatment of hepatic lipid storage diseases such as cholesterol ester storage disease.

  11. Fusarium avenaceum causes burn spot disease syndrome in noble crayfish (Astacus astacus).

    PubMed

    Makkonen, J; Jussila, J; Koistinen, L; Paaver, T; Hurt, M; Kokko, H

    2013-06-01

    Burn spot disease has been causing epidemics both in the Estonian mainland and in Saaremaa Island in the threatened noble crayfish (Astacus astacus) stocks. To study the cause of the disease, we isolated several Fusarium spp. from Estonian noble crayfish (A. astacus) populations suffering from burn spot disease syndrome. We first identified fungi directly from melanised cuticle by their ITS sequences. Then we isolated Fusarium spp. from melanised spots of crayfish showing burn spot disease symptoms, such as melanisation and shell erosion, from two different crayfish populations and watercourses in Estonia. The isolates were then identified based on ITS and EF1α-gene sequences. Isolates of Fusarium spp. taken from two separate Estonian noble crayfish populations were used in infection studies. Koch postulates confirmed that the studied agent was causing burn spot disease symptoms including shell erosion in the noble crayfish, which were significantly more severe after molts. After the infection period, an identical Fusarium spp. was re-isolated from carapace lesions and was thus shown to be the disease agent causing burn spot disease syndrome and shell erosion in noble crayfish. Based on GenBank database searches, the isolates causing burn spot disease symptoms were identified as Fusarium avenaceum in mainland Estonia and F. solani in Saaremaa crayfish.

  12. Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis

    PubMed Central

    Khoja, Amir M; Jalan, Rahul K; Jain, Dheeraj L; Kajale, Omkar V

    2016-01-01

    Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant condition causing systemic fibrovascular dysplasia. It has an incidence of 1-2/100,000. Phenotypic variation is extreme ranging from asymptomatic to severely symptomatic, from cases with no or few mucocutaneous lesions to those with diffuse cutaneous telangiectasia. We discuss a case of Osler-Weber-Rendu disease causing diffuse cutaneous telangiectasia and hemoptysis. The patient presented with complaints of hemoptysis and was extensively examined and investigated before being diagnosed with Osler-Weber-Rendu disease. We successfully managed the patient's hemoptysis by bronchial artery embolization. This case emphasizes the need for careful examination and investigation and to consider such rare diseases when all the common causes of hemoptysis are ruled out. An early and proper diagnosis will lead to more effective management of such a rare disease with few treatment options available. PMID:27185997

  13. Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis.

    PubMed

    Khoja, Amir M; Jalan, Rahul K; Jain, Dheeraj L; Kajale, Omkar V

    2016-01-01

    Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant condition causing systemic fibrovascular dysplasia. It has an incidence of 1-2/100,000. Phenotypic variation is extreme ranging from asymptomatic to severely symptomatic, from cases with no or few mucocutaneous lesions to those with diffuse cutaneous telangiectasia. We discuss a case of Osler-Weber-Rendu disease causing diffuse cutaneous telangiectasia and hemoptysis. The patient presented with complaints of hemoptysis and was extensively examined and investigated before being diagnosed with Osler-Weber-Rendu disease. We successfully managed the patient's hemoptysis by bronchial artery embolization. This case emphasizes the need for careful examination and investigation and to consider such rare diseases when all the common causes of hemoptysis are ruled out. An early and proper diagnosis will lead to more effective management of such a rare disease with few treatment options available.

  14. De Quervain disease caused by abductor pollicis longus tenosynovitis: a report of three cases.

    PubMed

    Maruyama, Masahiro; Takahara, Masatoshi; Kikuchi, Noriaki; Ito, Kazuo; Watanabe, Tadayoshi; Ogino, Toshihiko

    2009-01-01

    De Quervain disease is caused by a stenosing tenosynovitis in the first dorsal compartment, and the main aetiology is extensor pollicis brevis (EPB) tenosynovitis. We encountered three cases in which EPB tenosynovitis was absent and abductor pollicis longus (APL) tenosynovitis was confirmed during operation. In the treatment of de Quervain disease, APL tenosynovitis should be paid as much attention as EPB tenosynovitis.

  15. Missed diagnosis of Behçet disease causing aortic regurgitation.

    PubMed

    Tham, Yi Chuan; Sin, Yoong Kong

    2016-02-01

    Aortic regurgitation is a rare and serious presentation of Behçet's disease. Here we describe a case of missed diagnosis of Behçet's disease in a 37-year-old man, causing symptomatic aortic regurgitation. Perioperative diagnosis of Behçet's aortitis is crucial because surgical intervention carries high reoperative morbidity and mortality.

  16. Helminths and helminthoses in Central Europe: diseases caused by nematodes (roundworms).

    PubMed

    Auer, Herbert; Aspöck, Horst

    2014-10-01

    The third part of the overview "Helminths and helminthoses in Central Europe" deals with the medically relevant nematodes (roundworms) and nematode-caused diseases occurring in Central Europe. The paper comprises data on the biology of the parasites and their ways of transmission, describes the symptomatology of the diseases, summarizes the possibilities of diagnosis and refers to the prophylactic means.

  17. First report of mango malformation disease caused by Fusarium pseudocircinatum in Mexico

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mango (Mangifera indica L.) malformation disease (MMD) is one of the most important diseases affecting this crop worldwide, causing severe economic loss due to reduction of yield. Subsequent to the first report in India in 1891 (3), MMD has spread worldwide to most mango-growing regions. Several spe...

  18. Apple Replant Disease: Role of microbial ecology in cause and control

    Technology Transfer Automated Retrieval System (TEKTRAN)

    1. Apple replant disease (ARD) has been reported from all major fruit-growing regions of the world, and is often caused by a consortium of biological agents. Development of non-fumigant alternatives for the control of this disease has been hindered by the absence of consensus concerning the etiology...

  19. Phoma species on beet: more cause disease than just Phoma betae

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Phoma can cause damage to sugar beet (Beta vulgaris) at multiple growth stages. It has historically been an important seedling disease, but this is largely managed by ensuring clean seed for planting. The pathogen also can cause a root rot, a leaf spot, and rotting of beets during storage. In the Un...

  20. [Diseases and causes of death of outstanding creative and scientific figures of XVII-XX centuries].

    PubMed

    Martsinkovs'kyĭ, I B

    2007-01-01

    The article reviewed the literature which analyzes clinical symptoms and causes of some creative and scientific figures of XVII-XX centuries. A conclusion has been made that there are not enough works with professional retrospective investigation of somatic diseases and causes of death of ukrainain outstanding cultural and scientific people in today's national medical literature.

  1. First case report of Neisseria lactamica causing cavitary lung disease in an adult organ transplant recipient.

    PubMed

    Zavascki, Alexandre Prehn; Fritscher, Leandro; Superti, Silvana; Dias, Cícero; Kroth, Leonardo; Traesel, Moacir Alexandre; Antonello, Ivan Carlos Ferreira; Saitovitch, David

    2006-07-01

    We describe a case of an adult organ recipient patient with a pulmonary cavitary lesion due to Neisseria lactamica, a harmless commensal organism that rarely causes human infection. To our knowledge, this is the first report of pulmonary disease caused by this organism and the second case of N. lactamica infection in an adult patient.

  2. Evaluation of virus resistant rootstocks to manage watermelon vine decline and diseases caused by other potyviruses

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Watermelon vine decline caused by Squash vein yellowing virus (SqVYV) is an emerging disease that has caused severe losses to Florida watermelon growers in recent years. Papaya ringspot virus type W (PRSV-W) is one of several watermelon-infecting potyviruses long present in the southeastern U.S. L...

  3. The Importance of Esophageal and Gastric Diseases as Causes of Chest Pain

    PubMed Central

    Shin, Eun Jung; Kim, Nam Su; Lee, Young Ho; Nam, Eun Woo

    2015-01-01

    Purpose Pediatric chest pain is considered to be idiopathic or caused by benign diseases. This study was to find out how much upper gastrointestinal (UGI) diseases are major causes of chest pain in pediatric patients. Methods The records of 75 children (42 boys and 33 girls, aged 3-17 years old) who have presented with mainly chest pain from January 1995 to March 2015 were retrospectively reviewed. Chest X-ray and electrocardiography (ECG) were performed in all aptients. Further cardiologic and gastrointestinal (GI) evaluations were performed in indicated patients. Results Chest pain was most common in the children of 6 and 9 to 14 years old. Esopha-gogastric diseases were unexpectedly the most common direct causes of the chest pain, the next are idiopathic, cardiac diseases, chest trauma, respiratory disease, and psychosomatic disease. Even though 21 showed abnormal ECG findings and 7 showed abnormalities on echocardiography, cardiac diseases were determined to be the direct causes only in 9. UGI endoscopy was performed in 57 cases, and esophago-gastric diseases which thereafter were thought to be causative diseases were 48 cases. The mean age of the children with esophago-gastric diseases were different with marginal significance from that of the other children with chest pain not related with esophago-gastric diseases. All the 48 children diagnosed with treated with GI medicines based on the diagnosis, and 37 cases (77.1%) subsequently showed clinical improvement. Conclusion Diagnostic approaches to find out esophageal and gastric diseases in children with chest pain are important as well as cardiac and respiratory investigations. PMID:26770901

  4. [Anaemia as a cause of haemodynamic angina in a patient with chronic ischaemic heart disease].

    PubMed

    Miguéns Blanco, I; Bravo Amaro, M

    2014-01-01

    Ischaemic heart disease is the leading cause of mortality and morbidity and one of the primary causes of morbidity in Spain. The variability in the clinical presentation of this condition at both primary care and emergency services level requires a careful history and a thorough physical examination. In the case presented, the main symptoms of angina and dyspnea reported in the anamnesis, and the obvious pallor in the physical examination, were the key data to identify anaemia as a cause of angina.

  5. Estimating the proportion of disease due to classes of sufficient causes.

    PubMed

    Hoffmann, Kurt; Heidemann, Christin; Weikert, Cornelia; Schulze, Matthias B; Boeing, Heiner

    2006-01-01

    Disease can be caused by different mechanisms. A possible causal model proposed by Rothman is a complete causal mechanism or a so-called "sufficient cause" consisting of a set of component causes that can be illustrated in a pie chart. However, this model does not allow finding out what sufficient causes produce the majority of cases. The authors' objective was to extend Rothman's work by quantifying the proportion of disease that can be attributed to a class of sufficient causes. The underlying idea was to consider all combinations of a given set of known risk factors and to assign each combination to a class of sufficient causes. This assignment makes it possible to evaluate a class of sufficient causes by the population attributable fraction of the corresponding combination of risk factors. The approach presented was applied to sufficient causes of myocardial infarction by use of data on participants recruited between 1994 and 1998 into the European Prospective Investigation into Cancer and Nutrition-Potsdam Study. As a result, 51.8% of cases were attributed to only four different classes of sufficient causes. In conclusion, the statistical method described in the paper may be beneficial for quantifying the importance of different sufficient causes and for improving the efficiency of public health programs.

  6. Fundamental Interventions: How Clinicians Can Address the Fundamental Causes of Disease.

    PubMed

    Reich, Adam D; Hansen, Helena B; Link, Bruce G

    2016-06-01

    In order to enhance the "structural competency" of medicine-the capability of clinicians to address social and institutional determinants of their patients' health-physicians need a theoretical lens to see how social conditions influence health and how they might address them. We consider one such theoretical lens, fundamental cause theory, and propose how it might contribute to a more structurally competent medical profession. We first describe fundamental cause theory and how it makes the social causes of disease and health visible. We then outline the sorts of "fundamental interventions" that physicians might make in order to address the fundamental causes.

  7. Establishing Precise Evolutionary History of a Gene Improves Predicting Disease Causing Missense Mutations

    PubMed Central

    Adebali, Ogun; Reznik, Alexander O.; Ory, Daniel S.; Zhulin, Igor B.

    2015-01-01

    Purpose Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course of evolution are likely benign in humans. However, current tools do not take into account orthologous/paralogous relationships. Paralogs have dramatically different roles in Mendelian diseases. For example, while inactivating mutations in the NPC1 gene cause the neurodegenerative disorder Niemann-Pick C, inactivating mutations in its paralog NPC1L1 are not disease-causing and moreover are implicated in protection from coronary heart disease. Methods We identified major events in NPC1 evolution and revealed and compared orthologs and paralogs of the human NPC1 gene through phylogenetic and protein sequence analyses. We predicted whether an amino acid substitution affects protein function by reducing the organism’s fitness. Results Removing the paralogs and distant homologs improved the overall performance of categorizing disease-causing and benign amino acid substitutions. Conclusion The results show that a thorough evolutionary analysis followed by identification of orthologs improves the accuracy in predicting disease-causing missense mutations. We anticipate that this approach will be used as a reference in the interpretation of variants in other genetic diseases as well. PMID:26890452

  8. Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

    SciTech Connect

    Adebali, Ogun; Reznik, Alexander O.; Ory, Daniel S.; Zhulin, Igor B.

    2016-02-18

    Here, predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course of evolution are probably benign in humans. However, current tools do not take into account orthologous/paralogous relationships. Paralogs have dramatically different roles in Mendelian diseases. For example, whereas inactivating mutations in the NPC1 gene cause the neurodegenerative disorder Niemann-Pick C, inactivating mutations in its paralog NPC1L1 are not disease-causing and, moreover, are implicated in protection from coronary heart disease. Methods: We identified major events in NPC1 evolution and revealed and compared orthologs and paralogs of the human NPC1 gene through phylogenetic and protein sequence analyses. We predicted whether an amino acid substitution affects protein function by reducing the organism s fitness. As a result, removing the paralogs and distant homologs improved the overall performance of categorizing disease-causing and benign amino acid substitutions. In conclusion, the results show that a thorough evolutionary analysis followed by identification of orthologs improves the accuracy in predicting disease-causing missense mutations. We anticipate that this approach will be used as a reference in the interpretation of variants in other genetic diseases as well.

  9. Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

    DOE PAGES

    Adebali, Ogun; Reznik, Alexander O.; Ory, Daniel S.; ...

    2016-02-18

    Here, predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course of evolution are probably benign in humans. However, current tools do not take into account orthologous/paralogous relationships. Paralogs have dramatically different roles in Mendelian diseases. For example, whereas inactivating mutations in the NPC1 gene cause the neurodegenerative disorder Niemann-Pick C, inactivating mutations in its paralog NPC1L1 are not disease-causing and, moreover, are implicated in protection from coronary heart disease. Methods: We identified major events inmore » NPC1 evolution and revealed and compared orthologs and paralogs of the human NPC1 gene through phylogenetic and protein sequence analyses. We predicted whether an amino acid substitution affects protein function by reducing the organism s fitness. As a result, removing the paralogs and distant homologs improved the overall performance of categorizing disease-causing and benign amino acid substitutions. In conclusion, the results show that a thorough evolutionary analysis followed by identification of orthologs improves the accuracy in predicting disease-causing missense mutations. We anticipate that this approach will be used as a reference in the interpretation of variants in other genetic diseases as well.« less

  10. Rates and causes of end-stage renal disease in Navajo Indians, 1971-1985.

    PubMed

    Megill, D M; Hoy, W E; Woodruff, S D

    1988-08-01

    The rates of end-stage renal disease are much increased in American Indians, but no longitudinal study of its rates and causes has been undertaken in any tribe. This 15-year study of rates and causes of treated end-stage renal disease in the Navajo, the largest Indian tribe, supplies an important model on which to base projections and plan interventions. Treated end-stage renal disease in Navajos has increased to an age-adjusted incidence 4 times that in whites in the United States. Diabetic nephropathy accounted for 50% of all new cases in 1985, with an incidence 9.6 times that in US whites, and was due entirely to type II disease. Glomerulonephritis caused end-stage renal disease in Navajos at a rate at least 1.8 times that in US whites and afflicted a much younger population. The predominant form was mesangial proliferative glomerulonephritis associated with an immune complex deposition. Renal disease of unknown etiology, which probably includes much silent glomerulonephritis, accounted for 20% of all new cases. The aggregate Navajo population with end-stage renal disease was 9 years younger than its US counterpart. These observations reflect the genesis of the epidemic of diabetic nephropathy afflicting many tribes. Urgent measures are needed to contain this. In addition, the etiology and control of mesangiopathic, immune-complex glomerulonephritis of unusual severity, a previously unrecognized problem, need to be addressed.

  11. Aspergillus tanneri sp. nov., a New Pathogen That Causes Invasive Disease Refractory to Antifungal Therapy

    PubMed Central

    Sugui, Janyce A.; Peterson, Stephen W.; Clark, Lily P.; Nardone, Glenn; Folio, Les; Riedlinger, Gregory; Zerbe, Christa S.; Shea, Yvonne; Henderson, Christina M.; Zelazny, Adrian M.; Holland, Steven M.

    2012-01-01

    The most common cause of invasive aspergillosis (IA) in patients with chronic granulomatous disease (CGD) is Aspergillus fumigatus followed by A. nidulans; other aspergilli rarely cause the disease. Here we review two clinical cases of fatal IA in CGD patients and describe a new etiologic agent of IA refractory to antifungal therapy. Unlike typical IA caused by A. fumigatus, the disease caused by the new species was chronic and spread from the lung to multiple adjacent organs. Mycological characteristics and the phylogenetic relationship with other aspergilli based on the sequence analysis of Mcm7, RPB2, and Tsr1 indicated that the new species, which we named as A. tanneri, belongs to Aspergillus section Circumdati. The species has a higher amphotericin B, voriconazole, and itraconazole MIC and causes more chronic infection in CGD mice than A. fumigatus. This is the first report documenting IA in CGD patients caused by a species belonging to the Aspergillus section Circumdati that is inherently resistant to azoles and amphotericin B. Unlike the results seen with many members of Aspergillus section Circumdati, ochratoxin was not detected in filtrates of cultures grown in various media. Our phenotypic and genetic characterization of the new species and the case reports will assist future diagnosis of infection caused by A. tanneri and lead to more appropriate patient management. PMID:22855513

  12. [EPIDEMIOLOGIC ANALYSIS OF OUTBREAKS OF DISEASES CAUSED BY AMERICAN EQUINE ENCEPHALITIS CAUSATIVE AGENTS IN ENDEMIC REGIONS].

    PubMed

    Petrov, A A; Lebedev, V N; Kulish, V S; Pyshnaya, N S; Stovba, L F; Borisevich, S V

    2015-01-01

    Epidemiologic analysis of epidemic outbreaks caused by American equine encephalitis causative agents is carried out in the review. Eastern equine encephalomyelitis (EEE), Western equine encephalomyelitis (WEE) and Venezuela equine encephalomyelitis (VEE) viruses are etiologic agents of dangerous transmissive diseases that are usually accompanied by fever and neurologic symptoms. Among the New World alphaviruses, VEE virus has the most potential danger for humans and domestic animals. Currently, enzootic strains of VEE play an increasing role as etiologic agents of human diseases. Most of the VEE cases in humans in endemic regions during inter-epidemic period are caused by infection with VEE subtype ID virus. A possibility of emergence of novel epidemic outbreaks of VEE is determined by mutations of ID subtype strains into IC subtype, and those currently pose a potential threat as an etiologic agent of the disease. Despite low morbidity, EEE and WEE are a problem for healthcare due to a relatively high frequency of lethal outcomes of the disease.

  13. Liver disease--a prominent cause of serum IgE elevation.

    PubMed Central

    Van Epps, E; Husby, G; Williams, R C; Strickland, R G

    1976-01-01

    Serum IgE concentrations were elevated in thirty-seven out of sixty-seven patients (55%) with acute or chronic liver disease of widely differing aetiology. The mean IgE concentrations in these patients showed an eight-fold increase above that observed in control subjects. Increased IgE levels in patients with liver disease occurred in the absence of eosinophilia, clinical evidence of atopy or other known causes of IgE elevation. No IgE-containing plasma cells were detected in the liver biopsies from thirty-two of the sixty-seven patients tested. Peripheral blood T cells were significantly decreased from normal in the patients with liver disease, but no correlation emerged between serum IgE levels and absolute peripheral blood T-cell numbers. These findings emphasize the importance of liver disease as a significant cause of serum IgE elevation. PMID:1084811

  14. [Non-amyloidotic glomerular disease caused by light-chain deposits: a case report].

    PubMed

    Cantillo, Jorge de Jesús; López, Rocío del Pilar; Andrade, Rafael Enrique

    2009-12-01

    The nephropathy of monoclonal gammopathies is principally caused by light chain deposits of fragmented immunoglobins. Paraprotein-related renal diseases are associated with such deposits of intact (heavy chain) or fragmentary (light chain) immunoglobins. A condition of pathological light chain deposits is rare and characterized by deposits of fragments of monoclonal immunoglobulins in many organs. Renal deposits occur primarily in glomeruli and tubular basement membranes. This disease is frequently associated with lymphoproliferative disorders. The majority of cases are caused by deposits of kappa light chains. Whereas this disease is most frequently associated with hematologic malignancies, occasionally a case occurs without detectable hematological pathologies; these cases are called idiopathic or primary. They usually manifest themselves as severe renal insufficiencies with nephrotic-range proteinuria. No treatment regime has been clearly established and the prognosis is poor. Herein, the clinical and histological characteristics are described regarding the first case in Colombia of light chain deposit disease without symptoms of malignancy.

  15. Alternative projections of mortality and disability by cause 1990-2020: Global Burden of Disease Study.

    PubMed

    Murray, C J; Lopez, A D

    1997-05-24

    As part of the Global Burden of Disease Study, three scenarios of future mortality and disability were identified. The scenarios were based on future health status as a function of projected changes in key socioeconomic variables that influence health status. Regression equations for mortality rates for nine cause-of-death clusters were developed by region based on gross domestic product per person, average number of years of education, time (as a proxy for technological change), and smoking intensity. Life expectancy at birth was projected, in all three scenarios, to increase for women (to about 90 years in established market economies by 2020), with far smaller gains in male life expectancy. Worldwide, annual mortality from communicable maternal, perinatal, and nutritional disorders (group 1 causes) is expected to decline from 17.2 million to 10.3 million in 2020 in the baseline model. Also expected is a very large increase in deaths from non-communicable diseases (group 2 causes) from 28.1 million in 1990 to 49.7 million in 2020. Deaths from injuries (group 3) are projected to increase from 5.1 million to 8.4 million. Diarrheal diseases, perinatal disorders, measles, and malaria are expected to decline dramatically as causes of death in the 1990-2020 period, while lung cancer, stomach cancer, war injuries, liver cancer, and HIV are expected to move up five or more places in the ranking. In 2020, the 10 leading causes of disability-adjusted life-years (in descending order) are projected to be ischemic heart disease, unipolar major depression, road traffic accidents, cerebrovascular disease, chronic obstructive pulmonary disease, lower respiratory infections, tuberculosis, war injuries, diarrheal diseases, and HIV. Tobacco-attributable mortality is projected to increase from 3.0 million in 1990 to 8.4 million in 2020 (9% of the worldwide mortality burden).

  16. Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

    PubMed Central

    Gulsuner, Suleyman; Stapleton, Gail A.; Walsh, Tom; Lee, Ming K.; Mandell, Jessica B.; Morales, Augusto; Klevit, Rachel E.; King, Mary-Claire; Rogers, R. Curtis

    2016-01-01

    Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well as milder and more severe phenotypes. We present a 13-year-old girl with ataxia, severe hearing loss, optic atrophy, peripheral neuropathy, and hypergonadotropic hypogonadism. Whole-exome sequencing revealed that the patient is compound heterozygous for previously unreported variants in the C10orf2 gene: a paternally inherited frameshift variant (c.333delT; p.L112Sfs*3) and a maternally inherited missense variant (c.904C>T; p.R302W). The identification of novel C10orf2 mutations extends the spectrum of mutations in the Twinkle helicase causing recessive disease, in particular the intermediate IOSCA phenotype. Structural modeling suggests that the p.R302W mutation and many other recessively inherited Twinkle mutations impact the position or interactions of the linker region, which is critical for the oligomeric ring structure and activity of the helicase. This study emphasizes the utility of whole-exome sequencing for the genetic diagnosis of a complex multisystemic disorder. PMID:27551684

  17. Myocardial performance and perfusion during exercise in patients with coronary artery disease caused by Kawasaki disease

    SciTech Connect

    Paridon, S.M.; Ross, R.D.; Kuhns, L.R.; Pinsky, W.W. )

    1990-01-01

    For a study of the natural history of coronary artery lesions after Kawasaki disease and their effect on myocardial blood flow reserve with exercise, five such patients underwent exercise testing on a bicycle. Oxygen consumption, carbon dioxide production, minute ventilation, and electrocardiograms were monitored continuously. Thallium-201 scintigraphy was performed for all patients. One patient stopped exercise before exhaustion of cardiovascular reserve but had no evidence of myocardial perfusion abnormalities. Four patients terminated exercise because of exhaustion of cardiovascular reserve; one had normal cardiovascular reserve and thallium scintiscans, but the remaining patients had diminished cardiovascular reserve. Thallium scintigrams showed myocardial ischemia in two and infarction in one. No patient had exercise-induced electrocardiographic changes. These results indicate that patients with residual coronary artery lesions after Kawasaki disease frequently have reduced cardiovascular reserve during exercise. The addition of thallium scintigraphy and metabolic measurements to exercise testing improved the detection of exercise-induced abnormalities of myocardial perfusion.

  18. The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.

    PubMed

    Wofford, Jay; Fenves, Andrew Z; Jackson, J Mark; Kimball, Alexa B; Menter, Alan

    2016-02-01

    There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the need for dermatologists in practice or in clinical training to be aware of these associations. Part I of this 2-part continuing medical education article reviews the genetic syndromes with both renal and cutaneous involvement that are most important for the dermatologist to be able to identify, manage, and appropriately refer to nephrology colleagues. Part II reviews the inflammatory syndromes with relevant renal manifestations and therapeutic agents commonly used by dermatologists that have drug-induced effects on or require close consideration of renal function. In addition, we will likewise review therapeutic agents commonly used by nephrologists that have drug-induced effects on the skin that dermatologists are likely to encounter in clinical practice. In both parts of this continuing medical education article, we discuss diagnosis, management, and appropriate referral to our nephrology colleagues in the context of each nephrocutaneous association. There are a significant number of dermatoses associated with renal abnormalities and disease, emphasizing the need for dermatologists to be keenly aware of their presence in order to avoid overlooking important skin conditions with potentially devastating renal complications. This review discusses important nephrocutaneous disease associations with recommendations for the appropriate urgency of referral to nephrology colleagues for diagnosis, surveillance, and early management of potential renal sequelae.

  19. Hemifacial Spasm From Lyme Disease: Antibiotic Treatment Points to the Cause.

    PubMed

    LeWitt, Tessa M

    A wide range of etiologies can cause hemifacial spasm (HFS), including infection. In this case report, a 44-year-old woman developed HFS and was explored surgically 7 years later. No abnormalities were found. Afterward, treatment of a surgical wound infection with an oral cephalosporin resulted in a temporary HFS remission that had never occurred previously. This antibiotic experience prompted further workup for an underlying infection, which ultimately led to diagnosis of Lyme disease. Presentation of HFS due to Lyme disease has not been reported. Because its diagnosis can be occult and antibiotic therapy can be both diagnostic and therapeutic, Lyme disease should be a consideration for cases of HFS.

  20. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

    PubMed

    Wiseman, Frances K; Al-Janabi, Tamara; Hardy, John; Karmiloff-Smith, Annette; Nizetic, Dean; Tybulewicz, Victor L J; Fisher, Elizabeth M C; Strydom, André

    2015-09-01

    Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.

  1. Debating Diseases in Nineteenth-Century Colombia: Causes, Interests, and the Pasteurian Therapeutics.

    PubMed

    García, Mónica

    2015-01-01

    This article explores the medical conceptualization of the causes of diseases in nineteenth-century Colombia. It traces the history of some of the pathologies that were of major concern among nineteenth-century doctors: periodic fevers (yellow fever and malaria), continuous fevers (typhoid fever), and leprosy (Greek elephantiasis). By comparing the transforming conceptualizations of these diseases, this article shows that their changing pattern, the idea of climatic determinism of diseases (neo-Hippocratism and medical geography), the weak standing of the medical community in Colombian society, as well as Pasteurian germ practices were all crucial in the uneven and varied reshaping of their understanding.

  2. Changes in the Aggressiveness and Fecundity of Hot Pepper Anthracnose Pathogen (Colletotricum acutatum) under Elevated CO2 and Temperature over 100 Infection Cycles.

    PubMed

    Koo, Tae-Hoon; Hong, Sung-Jun; Yun, Sung-Chul

    2016-06-01

    We observed the changes in aggressiveness and fecundity of the anthracnose pathogen Colletotrichum acutatum on hot pepper, under the ambient and the twice-ambient treatments. Artificial infection was repeated over 100 cycles for ambient (25°C/400 ppm CO2) and twice-ambient (30°C/700 ppm CO2) growth chamber conditions, over 3 years. During repeated infection cycles (ICs) on green-pepper fruits, the aggressiveness (incidence [% of diseased fruits among 20 inoculated fruits] and severity [lesion length in mm] of infection) and fecundity (the average number of spores per five lesions) of the pathogen were measured in each cycle and compared between the ambient and twice-ambient treatments, and also between the early (ICs 31-50) and late (ICs 81-100) generations. In summary, the pathogen's aggressiveness and fecundity were significantly lower in the late generation. It is likely that aggressiveness and fecundity of C. acutatum may be reduced as global CO2 and temperatures increase.

  3. A family of LRR sequences in the vicinity of the Co-2 locus for anthracnose resistance in Phaseolus vulgaris and its potential use in marker-assisted selection.

    PubMed

    Geffroy, V; Creusot, F; Falquet, J; Sévignac, M; Adam-Blondon, A F; Bannerot, H; Gepts, P; Dron, M

    1998-03-01

    Molecular markers offer new opportunities for breeding for disease resistance. Resistance gene pyramiding in a single cultivar, as a strategy for durable resistance, can be facilitated by marker-assisted selection (MAS). A RAPD marker, ROH20(450), linked to the Mesoamerican Co-2 anthracnose resistance gene, was previously transformed into a SCAR marker, SCH20. In the present paper we have further characterized the relevance of the SCH20 SCAR marker in different genetic backgrounds. Since this SCAR marker was found to be useful mainly in the Andean gene pool, we identified a new PCR-based marker (SCAreoli) for indirect scoring of the presence of the Co-2 gene. The SCAreoli SCAR marker is polymorphic in the Mesoamerican as well as in the Andean gene pool and should be useful in MAS. We also report that PvH20, the cloned sequence corresponding to the 450-bp RAPD marker ROH20(450), contains six imperfect leucine-rich repeats, and reveals a family of related sequences in the vicinity of the Co-2 locus. These results are discussed in the context of the recent cloning of some plant resistance genes.

  4. Changes in the Aggressiveness and Fecundity of Hot Pepper Anthracnose Pathogen (Colletotricum acutatum) under Elevated CO2 and Temperature over 100 Infection Cycles

    PubMed Central

    Koo, Tae-Hoon; Hong, Sung-Jun; Yun, Sung-Chul

    2016-01-01

    We observed the changes in aggressiveness and fecundity of the anthracnose pathogen Colletotrichum acutatum on hot pepper, under the ambient and the twice-ambient treatments. Artificial infection was repeated over 100 cycles for ambient (25°C/400 ppm CO2) and twice-ambient (30°C/700 ppm CO2) growth chamber conditions, over 3 years. During repeated infection cycles (ICs) on green-pepper fruits, the aggressiveness (incidence [% of diseased fruits among 20 inoculated fruits] and severity [lesion length in mm] of infection) and fecundity (the average number of spores per five lesions) of the pathogen were measured in each cycle and compared between the ambient and twice-ambient treatments, and also between the early (ICs 31–50) and late (ICs 81–100) generations. In summary, the pathogen’s aggressiveness and fecundity were significantly lower in the late generation. It is likely that aggressiveness and fecundity of C. acutatum may be reduced as global CO2 and temperatures increase. PMID:27298601

  5. Spontaneous retrotransposon insertion into TNF 3'UTR causes heart valve disease and chronic polyarthritis.

    PubMed

    Lacey, Derek; Hickey, Peter; Arhatari, Benedicta D; O'Reilly, Lorraine A; Rohrbeck, Leona; Kiriazis, Helen; Du, Xiao-Jun; Bouillet, Philippe

    2015-08-04

    Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are chronic inflammatory diseases that together affect 2-3% of the population. RA and AS predominantly involve joints, but heart disease is also a common feature in RA and AS patients. Here we have studied a new spontaneous mutation that causes severe polyarthritis in bone phenotype spontaneous mutation 1 (BPSM1) mice. In addition to joint destruction, mutant mice also develop aortic root aneurism and aorto-mitral valve disease that can be fatal depending on the genetic background. The cause of the disease is the spontaneous insertion of a retrotransposon into the 3' untranslated region (3'UTR) of the tumor necrosis factor (TNF), which triggers its strong overexpression in myeloid cells. We found that several members of a family of RNA-binding, CCCH-containing zinc-finger proteins control TNF expression through its 3'UTR, and we identified a previously unidentified regulatory element in the UTR. The disease in BPSM1 mice is independent of the adaptive immune system and does not appear to involve inflammatory cytokines other than TNF. To our knowledge, this is the first animal model showing both polyarthritis and heart disease as a direct result of TNF deregulation. These results emphasize the therapeutic potential of anti-TNF drugs for the treatment of heart valve disease and identify potential therapeutic targets to control TNF expression and inflammation.

  6. Spontaneous retrotransposon insertion into TNF 3′UTR causes heart valve disease and chronic polyarthritis

    PubMed Central

    Lacey, Derek; Hickey, Peter; Arhatari, Benedicta D.; O’Reilly, Lorraine A.; Rohrbeck, Leona; Kiriazis, Helen; Du, Xiao-Jun; Bouillet, Philippe

    2015-01-01

    Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are chronic inflammatory diseases that together affect 2–3% of the population. RA and AS predominantly involve joints, but heart disease is also a common feature in RA and AS patients. Here we have studied a new spontaneous mutation that causes severe polyarthritis in bone phenotype spontaneous mutation 1 (BPSM1) mice. In addition to joint destruction, mutant mice also develop aortic root aneurism and aorto-mitral valve disease that can be fatal depending on the genetic background. The cause of the disease is the spontaneous insertion of a retrotransposon into the 3′ untranslated region (3′UTR) of the tumor necrosis factor (TNF), which triggers its strong overexpression in myeloid cells. We found that several members of a family of RNA-binding, CCCH-containing zinc-finger proteins control TNF expression through its 3′UTR, and we identified a previously unidentified regulatory element in the UTR. The disease in BPSM1 mice is independent of the adaptive immune system and does not appear to involve inflammatory cytokines other than TNF. To our knowledge, this is the first animal model showing both polyarthritis and heart disease as a direct result of TNF deregulation. These results emphasize the therapeutic potential of anti-TNF drugs for the treatment of heart valve disease and identify potential therapeutic targets to control TNF expression and inflammation. PMID:26195802

  7. A novel sponge disease caused by a consortium of micro-organisms

    NASA Astrophysics Data System (ADS)

    Sweet, Michael; Bulling, Mark; Cerrano, Carlo

    2015-09-01

    In healthy sponges, microbes have been shown to account for up to 40 % of tissues. The majority of these are thought to originate from survivors evading digestion and immune responses of the sponge and growing and residing in the microenvironments of the mesophyll. Although a large percentage of these microbes are likely commensals, they may also include potentially pathogenic agents, which under specific conditions, such as temperature stress, may cause disease. Here we report a novel disease (sponge necrosis syndrome) that is severely affecting populations of the sponge Callyspongia ( Euplacella) aff biru. Both ITS fungal and 16S rDNA bacterial diversities were assessed in healthy and diseased individuals, highlighting six potential primary causal agents for this new disease: two bacteria, a Rhodobacteraceae sp. and a cyanobacterium, Hormoscilla spongeliae (formally identified as Oscillatoria spongeliae), and four fungi, a Ascomycota sp., a Pleosporales sp., a Rhabdocline sp., and a Clasosporium sp. Furthermore, histological analysis showed the dominance of fungal hyphae rather than bacteria throughout the disease lesion, which was absent or rare in healthy tissues. Inoculation trails showed that only a combination of one bacterium and one fungus could replicate the disease, fulfilling Henle-Koch's postulates and showing that this sponge disease is caused by a poly-microbial consortium.

  8. Exposure to lipophilic chemicals as a cause of neurological impairments, neurodevelopmental disorders and neurodegenerative diseases.

    PubMed

    Zeliger, Harold I

    2013-09-01

    Many studies have associated environmental exposure to chemicals with neurological impairments (NIs) including neuropathies, cognitive, motor and sensory impairments; neurodevelopmental disorders (NDDs) including autism and attention deficit hyperactivity disorder (ADHD); neurodegenerative diseases (NDGs) including Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis (ALS). The environmental chemicals shown to induce all these diseases include persistent organic pollutants (POPs), the plastic exudates bisphenol A and phthalates, low molecular weight hydrocarbons (LMWHCs) and polynuclear aromatic hydrocarbons (PAHs). It is reported here that though these chemicals differ widely in their chemical properties, reactivities and known points of attack in humans, a common link does exist between them. All are lipophilic species found in serum and they promote the sequential absorption of otherwise non-absorbed toxic hydrophilic species causing these diseases.

  9. Exposure to lipophilic chemicals as a cause of neurological impairments, neurodevelopmental disorders and neurodegenerative diseases

    PubMed Central

    2013-01-01

    Many studies have associated environmental exposure to chemicals with neurological impairments (NIs) including neuropathies, cognitive, motor and sensory impairments; neurodevelopmental disorders (NDDs) including autism and attention deficit hyperactivity disorder (ADHD); neurodegenerative diseases (NDGs) including Alzheimer′s disease, Parkinson's disease and amyotrophic lateral sclerosis (ALS). The environmental chemicals shown to induce all these diseases include persistent organic pollutants (POPs), the plastic exudates bisphenol A and phthalates, low molecular weight hydrocarbons (LMWHCs) and polynuclear aromatic hydrocarbons (PAHs). It is reported here that though these chemicals differ widely in their chemical properties, reactivities and known points of attack in humans, a common link does exist between them. All are lipophilic species found in serum and they promote the sequential absorption of otherwise non-absorbed toxic hydrophilic species causing these diseases. PMID:24678247

  10. The Blood Exposome and Its Role in Discovering Causes of Disease

    PubMed Central

    Barupal, Dinesh K.; Wishart, David; Vineis, Paolo; Scalbert, Augustin

    2014-01-01

    Background: Since 2001, researchers have examined the human genome (G) mainly to discover causes of disease, despite evidence that G explains relatively little risk. We posit that unexplained disease risks are caused by the exposome (E; representing all exposures) and G × E interactions. Thus, etiologic research has been hampered by scientists’ continuing reliance on low-tech methods to characterize E compared with high-tech omics for characterizing G. Objectives: Because exposures are inherently chemical in nature and arise from both endogenous and exogenous sources, blood specimens can be used to characterize exposomes. To explore the “blood exposome” and its connection to disease, we sought human blood concentrations of many chemicals, along with their sources, evidence of chronic-disease risks, and numbers of metabolic pathways. Methods: From the literature we obtained human blood concentrations of 1,561 small molecules and metals derived from foods, drugs, pollutants, and endogenous processes. We mapped chemical similarities after weighting by blood concentrations, disease-risk citations, and numbers of human metabolic pathways. Results: Blood concentrations spanned 11 orders of magnitude and were indistinguishable for endogenous and food chemicals and drugs, whereas those of pollutants were 1,000 times lower. Chemical similarities mapped by disease risks were equally distributed by source categories, but those mapped by metabolic pathways were dominated by endogenous molecules and essential nutrients. Conclusions: For studies of disease etiology, the complexity of human exposures motivates characterization of the blood exposome, which includes all biologically active chemicals. Because most small molecules in blood are not human metabolites, investigations of causal pathways should expand beyond the endogenous metabolome. Citation: Rappaport SM, Barupal DK, Wishart D, Vineis P, Scalbert A. 2014. The blood exposome and its role in discovering causes of

  11. Genome sequence of Fusarium oxysporum f. sp. melonis, a fungus causing wilt disease on melon

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This manuscript reports the genome sequence of F. oxysporum f. sp. melonis, a fungal pathogen that causes Fusarium wilt disease on melon (Cucumis melo). The project is part of a large comparative study designed to explore the genetic composition and evolutionary origin of this group of horizontally ...

  12. Genome Sequence of Fusarium oxysporum f. sp. melonis, a fungus causing wilt disease on melon

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This manuscript reports the genome sequence of F. oxysporum f. sp. melonis, a fungal pathogen that causes Fusarium wilt disease on melon (Cucumis melo). The project is part of a large comparative study designed to explore the genetic composition and evolutionary origin of this group of horizontally ...

  13. Resistance in wheat to Septoria diseases caused by Mycosphaerella graminicola (Septoria tritici) and Phaeosphaeria (Stagonospora) nodorum

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Septoria of wheat is a disease complex caused by three pathogens: Mycosphaerella graminicola (anamorph: Septoria tritici); Phaeosphaeria (anamorph: Stagonospora) nodorum; and P. avenaria f. sp. triticae (anamorph: Stagonospora avenae f. sp. triticae). These pathogens are all in the fungal class Dot...

  14. ANIMAL PATHOGENS THAT MAY CAUSE HUMAN DISEASE THAT ORIGINATE FROM FARM OPERATIONS

    EPA Science Inventory

    The recent increase in concentrated animal feeding operations in the United States has caused renewed concern regarding the infectious diseases that may be passed from farm animals to humans via the environment. It is also known that more than 20 recent epidemics among humans cou...

  15. Multiple pulmonary artery aneurysms: a rare cause of massive hemoptysis as presentation of Behcet's disease.

    PubMed

    Al Amri, Salem Mohammad; Banjar, Ahmad Hassan; Cheema, Ahsan Iqbal

    2014-11-01

    We report a case of an acute episode of massive hemoptysis in a diagnosed patient of Behcet's disease, managed conservatively, using angio-guided vascular plug and coils for occluding the multiple bilateral pulmonary artery aneurysms with thoracic surgery backup. The episode of massive hemoptysis was caused by ruptured Pulmonary Artery Aneurysms (PAA).

  16. [Procedure for coding the causes of death in some circulatory system diseases].

    PubMed

    Kakorina, E P; Aleksandrova, G A; Frank, G A; Mal'kov, P G; Zaĭratians, O V; Vaĭsman, D Sh

    2014-01-01

    The paper deals with the unification of requirements for coding the causes of death in circulatory system diseases, by taking into account the recently updated ICD-10 and the Consensus of the Expert Council Task Force on Pathological Anatomy, Ministry of Health of the Russian Federation (27 February 2014).

  17. Outbreak of Legionnaire’s Disease Caused by Legionella pneumophila Serogroups 1 and 13

    PubMed Central

    Amemura-Maekawa, Junko; Ohya, Hitomi; Furukawa, Ichiro; Suzuki, Miyuki; Masaoka, Tomoka; Aikawa, Kastuhiro; Hibi, Kazumi; Morita, Masatomo; Lee, Ken-ichi; Ohnishi, Makoto; Kura, Fumiaki

    2017-01-01

    In Japan, hot springs and public baths are the major sources of legionellosis. In 2015, an outbreak of Legionnaires’ disease occurred among 7 patients who had visited a spa house. Laboratory investigation indicated that L. pneumophila serogroup 1 and 13 strains caused the outbreak and that these strains were genetically related. PMID:28098535

  18. Epididymitis caused by coxsackievirus A6 in association with hand, foot, and mouth disease.

    PubMed

    Vuorinen, Tytti; Osterback, Riikka; Kuisma, Jani; Ylipalosaari, Pekka

    2014-12-01

    Coxsackievirus A6 (CV-A6) caused hand, foot, and mouth disease (HFMD) with a unique manifestation of epididymitis. The patient underwent operation due to suspicion of testicular torsion. Epididymitis was diagnosed by ultrasound examination. Enterovirus was detected from epididymal fluid by PCR and typed by partial sequencing of viral protein 1 as CV-A6.

  19. Infection and disease progress of motile Aeromonas septicemia caused by virulent Aeromonas hydrophila in channel catfish

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Motile Aeromonas septicemia (MAS), caused by virulent clonal isolates of Aeromonas hydrophila (vAh), is emerging as a major disease in channel catfish (Ictalurus punctatus) aquaculture in the Southeastern United States. Predisposing conditions leading to vAh infection in catfish were however largely...

  20. Erdheim-Chester disease: a rare cause of recurrent fever of unknown origin mimicking lymphoma.

    PubMed

    Mariampillai, Anusiyanthan; Sivapiragasam, Abirami; Kumar, Amit; Hindenburg, Alexander; Cunha, Burke A; Zhou, Jianhong

    2014-01-01

    We report the case of a patient with recurrent fever of unknown origin (FUO) with prominent back pain, hepatosplenomegaly, and abdominal/pelvic adenopathy suggesting lymphoma. A bone biopsy showed histiocytic infiltration. Studies for lymphoma were negative, but immunohistochemical stains were diagnostic of Erdheim-Chester disease (ECD). ECD should be included as a rare cause of recurrent FUO with bone involvement.

  1. Two capsular polysaccharides enable Bacillus cereus G9241 to cause anthrax-like disease.

    PubMed

    Oh, So-Young; Budzik, Jonathan M; Garufi, Gabriella; Schneewind, Olaf

    2011-04-01

    Bacillus cereus G9241 causes an anthrax-like respiratory illness in humans; however, the molecular mechanisms of disease pathogenesis are not known. Genome sequencing identified two putative virulence plasmids proposed to provide for anthrax toxin (pBCXO1) and/or capsule expression (pBC218). We report here that B. cereus G9241 causes anthrax-like disease in immune-competent mice, which is dependent on each of the two virulence plasmids. pBCXO1 encodes pagA1, the homologue of anthrax protective antigen, as well as hasACB, providing for hyaluronic acid capsule formation, two traits that each contribute to disease pathogenesis. pBC218 harbours bpsX-H, B. cereus exo-polysaccharide, which produce a second capsule. During infection, B. cereus G9241 elaborates both hasACB and bpsX-H capsules, which together are essential for the establishment of anthrax-like disease and the resistance of bacilli to phagocytosis. A single nucleotide deletion causes premature termination of hasA translation in Bacillus anthracis, which is known to escape phagocytic killing by its pXO2 encoded poly-d-γ-glutamic acid (PDGA) capsule. Thus, multiple different gene clusters endow pathogenic bacilli with capsular material, provide for escape from innate host immune responses and aid in establishing the pathogenesis of anthrax-like disease.

  2. Postmenopausal hormone therapy is not associated with risk of all-cause dementia and Alzheimer's disease.

    PubMed

    O'Brien, Jacqueline; Jackson, John W; Grodstein, Francine; Blacker, Deborah; Weuve, Jennifer

    2014-01-01

    The relationship of postmenopausal hormone therapy with all-cause dementia and Alzheimer's disease dementia has been controversial. Given continued interest in the role of hormone therapy in chronic disease prevention and the emergence of more prospective studies, we conducted a systematic review to identify all epidemiologic studies meeting prespecified criteria reporting on postmenopausal hormone therapy use and risk of Alzheimer's disease or dementia. A systematic search of Medline and Embase through December 31, 2012, returned 15 articles meeting our criteria. Our meta-analysis of any versus never use did not support the hypothesis that hormone therapy reduces risk of Alzheimer's disease (summary estimate = 0.88, 95% confidence interval: 0.66, 1.16). Exclusion of trial findings did not change this estimate. There were not enough all-cause dementia results for a separate meta-analysis, but when we combined all-cause dementia results (n = 3) with Alzheimer's disease results (n = 7), the summary estimate remained null (summary estimate = 0.94, 95% confidence interval: 0.71, 1.26). The limited explorations of timing of use-both duration and early initiation-did not yield consistent findings. Our findings support current recommendations that hormone therapy should not be used for dementia prevention. We discuss trends in hormone therapy research that could explain our novel findings and highlight areas where additional data are needed.

  3. Two capsular polysaccharides enable Bacillus cereus G9241 to cause anthrax-like disease

    PubMed Central

    Oh, So-Young; Budzik, Jonathan M.; Garufi, Gabriella; Schneewind, Olaf

    2012-01-01

    Summary Bacillus cereus G9241 causes an anthrax-like respiratory illness in humans, however the molecular mechanisms of disease pathogenesis are not known. Genome sequencing identified two putative virulence plasmids proposed to provide for anthrax toxin (pBCXO1) and/or capsule expression (pBC218). We report here that B. cereus G9241 causes anthrax-like disease in immune-competent mice, which is dependent on each of the two virulence plasmids. pBCXO1 encodes pagA1, the homolog of anthrax protective antigen, as well as hasACB, providing for hyaluronic acid capsule formation, two traits that each contribute to disease pathogenesis. pBC218 harbors bpsX-H, Bacillus cereus exo-polysaccharide, which produce a second capsule. During infection, B. cereus G9241 elaborates both hasACB and bpsX-H capsules, which together are essential for the establishment of anthrax-like disease and the resistance of bacilli to phagocytosis. A single nucleotide deletion causes premature termination of hasA translation in B. anthracis, which is known to escape phagocytic killing by its pXO2 encoded poly-D-γ-glutamic acid (PDGA) capsule. Thus, multiple different gene clusters endow pathogenic bacilli with capsular material, provide for escape from innate host immune responses and aid in establishing the pathogenesis of anthrax-like disease. PMID:21371137

  4. Oxidant and antioxidant mechanisms of lung disease caused by asbestos fibres.

    PubMed

    Kinnula, V L

    1999-09-01

    The pathogenesis of asbestos-related lung diseases is complicated and still poorly understood. Studies on animal models and cell cultures have indicated that asbestos fibres generate reactive oxygen and nitrogen species and cause oxidation and/or nitrosylation of proteins and deoxyribonucleic acid as a marker of cell injury. These effects are potentiated by the inflammation caused by the fibres. Recent studies have shown that individual variability in the antioxidant and/or detoxifying mechanisms probably has an important role in the development of asbestos-related lung diseases. Asbestos fibres cause both cell proliferation and apoptosis by multiple mechanisms, one of them being activation of signal transduction pathways by reactive oxygen and nitrogen species. Asbestos activates transcription factors such as nuclear factor kappa B, which has been shown to lead to the upregulation of antioxidant enzymes, most importantly manganese superoxide dismutase. This enzyme is also overexpressed in asbestos-related human malignant mesothelioma, whereas the induction of other antioxidant enzymes (copper-zinc superoxide dismutase, catalase, glutathione peroxidase) by asbestos fibres appears to be marginal. The significance of antioxidant enzymes in asbestos related diseases has, however, remained unclear. Furthermore, previous studies have not been able to offer successful therapies to the patients with asbestos-associated diseases. Only an improved understanding of the pathogenetic mechanisms in the human lung provides a basis for future therapies for asbestos-related diseases.

  5. Identifying new diseases and their causes: the dilemma of illnesses in Gulf War veterans.

    PubMed

    Gardner, John W; Gibbons, Robert V; Hooper, Tomoko I; Cunnion, Stephen O; Kroenke, Kurt; Gackstetter, Gary D

    2003-03-01

    Since the Gulf War, investigation continues of symptoms and illnesses among its veterans. Yet, identifying a specific "Gulf War Syndrome" remains elusive. With new disease entities, causal associations are relatively easily established when the condition is serious, verifiable, and has excess disease rates in specific groups. In common conditions, many excess cases are required to establish association with a specific exposure. Establishing causality in syndromes with variable symptoms is difficult because specific diagnostic algorithms must be established before causal factors can be properly investigated. Searching for an environmental cause is futile in the absence of an operational disease case definition. Common subjective symptoms (without objective physical or laboratory findings) account for over one-half of all medical outpatient visits, yet these symptoms lack an identified physical cause at least one-third of the time. Our medical care system has difficulty dealing with disorders where there is no identified anatomic abnormality or documented metabolic/physiological dysfunction.

  6. White Band Disease (type I) of Endangered Caribbean Acroporid Corals is Caused by Pathogenic Bacteria

    PubMed Central

    Kline, David I.; Vollmer, Steven V.

    2011-01-01

    Diseases affecting coral reefs have increased exponentially over the last three decades and contributed to their decline, particularly in the Caribbean. In most cases, the responsible pathogens have not been isolated, often due to the difficulty in isolating and culturing marine bacteria. White Band Disease (WBD) has caused unprecedented declines in the Caribbean acroporid corals, resulting in their listings as threatened on the US Threatened and Endangered Species List and critically endangered on the IUCN Red List. Yet, despite the importance of WBD, the probable pathogen(s) have not yet been determined. Here we present in situ transmission data from a series of filtrate and antibiotic treatments of disease tissue that indicate that WBD is contagious and caused by bacterial pathogen(s). Additionally our data suggest that Ampicillin could be considered as a treatment for WBD (type I). PMID:22355526

  7. Mediastinal mass and brachial plexopathy caused by subclavian arterial aneurysm in Behçet's disease.

    PubMed

    Yoo, W H; Kim, H K; Park, J H; Park, T S; Baek, H S

    2000-01-01

    Vascular involvement in Behçet's disease is divided into venous and arterial thrombosis and arterial aneurysmal formation. Subclavian arterial aneurysm rarely occurs in Behçet's disease; however, when it does occur, it causes serious aneurysmal rupture and local complications such as nerve compression and arterial ischemia. We describe the case of a 39-year-old male who presented with neurologic symptoms and signs of brachial plexopathy and mediastinal mass caused by Behçet's subclavian arterial aneurysm. This case shows that the occurrence of brachial plexopathy should be considered a manifestation of Behçet's disease, and that Behçet's aneurysm should be considered in the differential diagnosis of upper mediastinal mass.

  8. Unusual pecan diseases that might appear during a wet year

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In most growing seasons the diseases of most concern to pecan growers in the southeastern United States are pecan scab (particularly in wet years) and anthracnose (most often a problem when trees are stressed in mid-late season). Pecan is known to also be affected by at least 17 other pathogens, onl...

  9. Molecular phylogeny of the psittacid herpesviruses causing Pacheco's disease: correlation of genotype with phenotypic expression.

    PubMed

    Tomaszewski, Elizabeth K; Kaleta, Erhard F; Phalen, David N

    2003-10-01

    Fragments of 419 bp of the UL16 open reading frame from 73 psittacid herpesviruses (PsHVs) from the United States and Europe were sequenced. All viruses caused Pacheco's disease, and serotypes of the European isolates were known. A phylogenetic tree derived from these sequences demonstrated that the PsHVs that cause Pacheco's disease comprised four major genotypes, with each genotype including between two and four variants. With the exception of two viruses, the serotypes of the virus isolates could be predicted by the genotypes. Genotypes 1 and 4 corresponded to serotype 1 isolates, genotype 2 corresponded to serotype 2 isolates, and genotype 3 corresponded to serotype 3 isolates. The single serotype 4 virus mapped to genotype 4. DNA from a virus with a unique serotype could not be amplified with primers that amplified DNA from all other PsHVs, and its classification remains unknown. Viruses representing all four genotypes were found in both the United States and Europe, and it was therefore predicted that serotypes 1, 2, and 3 were present in the United States. Serotype 4 was represented by a single European isolate that could not be genetically distinguished from serotype 1 viruses; therefore, the presence of serotype 4 in the United States could not be predicted. Viruses of genotype 4 were found to be the most commonly associated with Pacheco's disease in macaws and conures and were least likely to be isolated in chicken embryo fibroblasts in the United States. All four genotypes caused deaths in Amazon parrots, but genotype 4 was associated with Pacheco's disease only in Amazons in Europe. Genotypes 2, 3, and 4, but not 1, were found in African grey parrots. Although parrots from the Pacific distribution represent a relatively small percentage of the total number of birds with Pacheco's disease, all four genotypes were found to cause disease in these species.

  10. Walking and running produce similar reductions in cause-specific disease mortality in hypertensives.

    PubMed

    Williams, Paul T

    2013-09-01

    To test prospectively in hypertensives whether moderate and vigorous exercise produces equivalent reductions in mortality, Cox-proportional hazard analyses were applied to energy expenditure (metabolic equivalents hours/d [METh/d]) in 6973 walkers and 3907 runners who used hypertensive medications at baseline. A total of 1121 died during 10.2-year follow-up: 695 cardiovascular disease (International Classification of Diseases, Tenth Revision [ICD10] I00-99; 465 underlying cause and 230 contributing cause), 124 cerebrovascular disease, 353 ischemic heart disease (ICD10 I20-25; 257 underlying and 96 contributing), 122 heart failure (ICD10 I50; 24 underlying and 98 contributing), and 260 dysrhythmias (ICD10 I46-49; 24 underlying and 236 contributing). Relative to <1.07 METh/d, running or walking 1.8 to 3.6 METh/d produced significantly lower all-cause (29% reduction; 95% confidence interval [CI], 17%-39%; P=0.0001), cardiovascular disease (34% reduction; 95% CI, 20%-46%; P=0.0001), cerebrovascular disease (55% reduction; 95% CI, 27%-73%; P=0.001), dysrhythmia (47% reduction; 95% CI, 27%-62%; P=0.0001), and heart failure mortality (51% reduction; 95% CI, 21%-70%; P=0.003), as did ≥ 3.6 METh/d with all-cause (22% reduction; 95% CI, 6%-35%; P=0.005), cardiovascular disease (36% reduction; 95% CI, 19%-50%; P=0.0002), cerebrovascular disease (47% reduction; 95% CI, 6%-71%; P=0.03), and dysrhythmia mortality (43% reduction; 95% CI, 16%-62%; P=0.004). Diabetes mellitus and chronic kidney disease mortality also decreased significantly with METh/d. All results remained significant when body mass index adjusted. Merely meeting guideline levels (1.07-1.8 METh/d) did not significantly reduced mortality. The dose-response was significantly nonlinear for all end points except diabetes mellitus, and cerebrovascular and chronic kidney disease. Results did not differ between running and walking. Thus, walking and running produce similar reductions in mortality in hypertensives.

  11. Legionnaires' disease caused by Legionella longbeachae and Legionella pneumophila: comparison of clinical features, host-related risk factors, and outcomes.

    PubMed

    Amodeo, M R; Murdoch, D R; Pithie, A D

    2010-09-01

    Legionnaires' disease remains an important cause of mortality and morbidity worldwide. Disease caused by Legionella pneumophila has been extensively studied, and its clinical characteristics have been well described. There is, however, little information on disease caused by Legionella longbeachae, despite its importance in some countries. We undertook a retrospective review of culture-positive cases of Legionnaires' disease in the Canterbury region of New Zealand over 10 years, in order to compare the clinical features and outcomes of Legionnaires' disease caused by these two species.

  12. Achievements and challenges in legume breeding for pest and disease resistance

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Yield stability of legume crops is constrained by a number of pest and diseases. Major diseases are rusts, powdery and downy mildews, ascochyta blight, botrytis gray molds, anthracnoses, damping-off, root rots, collar rot, vascular wilts and white mold. Parasitic weeds, viruses, bacteria, nematodes ...

  13. Kienböck's disease: unusual cause of acute onset wrist pain in a dialysis patient.

    PubMed

    Yamada, Shunsuke; Eriguchi, Rieko; Toyonaga, Jiro; Taniguchi, Masatomo; Fujimi, Satoru; Tsuruya, Kazuhiko

    2011-01-01

    Kienböck's disease is a rare disorder that presents with wrist pain and limitation of motion and is caused by avascular necrosis of the lunate bone. Dialysis patients occasionally present with wrist pain. However, Kienböck's disease is rarely reported in dialysis patients. We report a case of 52-year-old woman with a 28-year history of hemodialysis who presented with acute wrist pain. T1-weighted magnetic resonance imaging showed diffuse low intensity of the lunate bone, consistent with the diagnosis of Kienböck's disease. Because this disease can lead to chronic debilitating wrist pain, prompt diagnosis, accurate staging, and provision of appropriate treatment is mandatory.

  14. Effect of Chitosan on Rhizome Rot Disease of Turmeric Caused by Pythium aphanidermatum.

    PubMed

    Anusuya, Sathiyanarayanan; Sathiyabama, Muthukrishnan

    2014-01-01

    Chitosan was evaluated for its potential to induce antifungal hydrolases in susceptible turmeric plant (Curcuma longa L.). Under field conditions, the application of chitosan (crab shell) to turmeric plants by foliar spray method induces defense enzymes such as chitinases and chitosanases. Such an increase in enzyme activity was enhanced by spraying chitosan (0.1% w/v) on leaves of turmeric plants at regular intervals. Gel electrophoresis revealed new chitinase and chitosanase isoforms in leaves of turmeric plants treated with chitosan. Treated turmeric plants showed increased resistance towards rhizome rot disease caused by Pythium aphanidermatum, whereas control plants expressed severe rhizome rot disease. Increased activity of defense enzymes in leaves of chitosan treated turmeric plants may play a role in restricting the development of disease symptoms. The eliciting properties of chitosan make chitosan a potential antifungal agent for the control of rhizome rot disease of turmeric.

  15. Insights into the effects of disease-causing mutations in human actins.

    PubMed

    Rubenstein, Peter A; Wen, Kuo-Kuang

    2014-04-01

    Mutations in all six actins in humans have now been shown to cause diseases. However, a number of factors have made it difficult to gain insight into how the changes in actin functions brought about by these pathogenic mutations result in the disease phenotype. These include the presence of multiple actins in the same cell, limited accessibility to pure mutant material, and complexities associated with the structures and their component cells that manifest the diseases. To try to circumvent these difficulties, investigators have turned to the use of model systems. This review describes these various approaches, the initial results obtained using them, and the insight they have provided into allosteric mechanisms that govern actin function. Although results so far have not explained a particular disease phenotype at the molecular level, they have provided valuable insight into actin function at the mechanistic level which can be utilized in the future to delineate the molecular bases of these different actinopathies.

  16. Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

    PubMed Central

    Nagappa, Madhu; Taly, Arun B.; Mahadevan, Anita; Pooja, M.; Bindu, P. S.; Chickabasaviah, Y. T.; Gayathri, N.; Sinha, Sanjib

    2016-01-01

    Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis. PMID:27011649

  17. Diseases caused by mutations in Nav1.5 interacting proteins.

    PubMed

    Kyle, John W; Makielski, Jonathan C

    2014-12-01

    Sodium current in the heart flows principally through the pore protein NaV1.5, which is part of a complex of interacting proteins that serve both to target and localize the complex in the membrane, and to modulate function by such post-translational modifications as phosphorylation and nitrosylation. Multiple mutations in seven different NaV1.5 interacting proteins have been associated with dysfunctional sodium current and inherited cardiac diseases, including long QT syndrome, Brugada syndrome, atrial fibrillation, and cardiomyopathy, as well as sudden infant death syndrome (SIDS). Mutations in as yet unidentified interacting proteins may account for cardiac disease for which a genetic basis has not yet been established. Characterizing the mechanisms by which these mutations cause disease may give insight into etiologies and treatments of more common acquired cardiac disease, such as ischemia and heart failure.

  18. Hyperspectral imaging for small-scale analysis of symptoms caused by different sugar beet diseases.

    PubMed

    Mahlein, Anne-Katrin; Steiner, Ulrike; Hillnhütter, Christian; Dehne, Heinz-Wilhelm; Oerke, Erich-Christian

    2012-01-24

    Hyperspectral imaging (HSI) offers high potential as a non-invasive diagnostic tool for disease detection. In this paper leaf characteristics and spectral reflectance of sugar beet leaves diseased with Cercospora leaf spot, powdery mildew and leaf rust at different development stages were connected. Light microscopy was used to describe the morphological changes in the host tissue due to pathogen colonisation. Under controlled conditions a hyperspectral imaging line scanning spectrometer (ImSpector V10E) with a spectral resolution of 2.8 nm from 400 to 1000 nm and a spatial resolution of 0.19 mm was used for continuous screening and monitoring of disease symptoms during pathogenesis. A pixel-wise mapping of spectral reflectance in the visible and near-infrared range enabled the detection and detailed description of diseased tissue on the leaf level. Leaf structure was linked to leaf spectral reflectance patterns. Depending on the interaction with the host tissue, the pathogens caused disease-specific spectral signatures. The influence of the pathogens on leaf reflectance was a function of the developmental stage of the disease and of the subarea of the symptoms. Spectral reflectance in combination with Spectral Angle Mapper classification allowed for the differentiation of mature symptoms into zones displaying all ontogenetic stages from young to mature symptoms. Due to a pixel-wise extraction of pure spectral signatures a better understanding of changes in leaf reflectance caused by plant diseases was achieved using HSI. This technology considerably improves the sensitivity and specificity of hyperspectrometry in proximal sensing of plant diseases.

  19. Retention of acetylcarnitine in chronic kidney disease causes insulin resistance in skeletal muscle

    PubMed Central

    Miyamoto, Yasunori; Miyazaki, Teruo; Honda, Akira; Shimohata, Homare; Hirayama, Kouichi; Kobayashi, Masaki

    2016-01-01

    Insulin resistance occurs frequently in patients with chronic kidney disease. However, the mechanisms of insulin resistance associated with chronic kidney disease are unclear. It is known that an increase in the mitochondrial acetyl-CoA (AcCoA)/CoA ratio causes insulin resistance in skeletal muscle, and this ratio is regulated by carnitine acetyltransferase that exchanges acetyl moiety between CoA and carnitine. Because excess acetyl moiety of AcCoA is excreted in urine as acetylcarnitine, we hypothesized that retention of acetylcarnitine might be a cause of insulin resistance in chronic kidney disease patients. Serum acetylcarnitine concentrations were measured in chronic kidney disease patients, and were significantly increased with reduction of renal function. The effects of excess extracellular acetylcarnitine on insulin resistance were studied in cultured skeletal muscle cells (C2C12 and human myotubes), and insulin-dependent glucose uptake was significantly and dose-dependently inhibited by addition of acetylcarnitine. The added acetylcarnitine was converted to carnitine via reverse carnitine acetyltransferase reaction, and thus the AcCoA concentration and AcCoA/CoA ratio in mitochondria were significantly elevated. The results suggest that increased serum acetylcarnitine in CKD patients causes AcCoA accumulation in mitochondria by stimulating reverse carnitine acetyltransferase reaction, which leads to insulin resistance in skeletal muscle. PMID:27895387

  20. Effect of Ezetimibe on Major Atherosclerotic Disease Events and All-Cause Mortality

    PubMed Central

    Hayek, Sami; Escaro, Fabrizio Canepa; Sattar, Assad; Gamalski, Steven; Wells, Karen E.; Divine, George; Ahmedani, Brian K.; Lanfear, David E.; Pladevall, Manel; Williams, L. Keoki

    2012-01-01

    Despite ezetimibe’s ability to reduce serum cholesterol levels, there are concerns over its vascular effects and whether it prevents or ameliorates atherosclerotic disease (AD). Our objective was to estimate the effect of ezetimibe use on major AD events and all-cause mortality and to compare these associations to those observed for hydroxy-methylglutaryl-CoA reductase inhibitor (i.e., statin) use. We identified 367 new ezetimibe users between November 1, 2002 and December 31, 2009. These individuals were ≥18 years of age and had no prior statin use. One to four statin user matches were identified for each ezetimibe user resulting in a total of 1,238 closely matched statin users. Pharmacy data and drug dosage information were used to estimate a moving window of ezetimibe and statin exposure for each day of study follow-up. The primary outcome was a composite of major AD events (coronary heart disease, cerebrovascular disease, and peripheral vascular disease events) and all-cause death. Both ezetimibe use (odds ratio [OR] 0.33, 95% CI 0.13–0.86) and statin use (OR 0.61, 95% CI 0.36–1.04) were associated with reductions in the likelihood of the composite outcome. These protective associations were most significant for cerebrovascular disease events and all-cause death. Subgroup analyses by sex, race-ethnicity, prior history of AD, diabetes status, and estimated renal function showed consistent estimates across strata with no significant differences between ezetimibe and statin use. In conclusion, ezetimibe appeared to have a protective effect on major AD events and all-cause death which was not significantly different from that observed for statin use. PMID:23219178

  1. Effect of ezetimibe on major atherosclerotic disease events and all-cause mortality.

    PubMed

    Hayek, Sami; Canepa Escaro, Fabrizio; Sattar, Assad; Gamalski, Steven; Wells, Karen E; Divine, George; Ahmedani, Brian K; Lanfear, David E; Pladevall, Manel; Williams, L Keoki

    2013-02-15

    Despite ezetimibe's ability to reduce serum cholesterol levels, there are concerns over its vascular effects and whether it prevents or ameliorates atherosclerotic disease (AD). The aims of this study were to estimate the effect of ezetimibe use on major AD events and all-cause mortality and to compare these associations to those observed for hydroxymethylglutaryl coenzyme A reductase inhibitor (statin) use. A total of 367 new ezetimibe users were identified from November 1, 2002, to December 31, 2009. These subjects were aged ≥18 years and had no previous statin use. One to 4 statin user matches were identified for each ezetimibe user, resulting in a total of 1,238 closely matched statin users. Pharmacy data and drug dosage information were used to estimate a moving window of ezetimibe and statin exposure for each day of study follow-up. The primary outcome was a composite of major AD events (coronary heart disease, cerebrovascular disease, and peripheral vascular disease events) and all-cause death. Ezetimibe use (odds ratio 0.33, 95% confidence interval 0.13 to 0.86) and statin use (odds ratio 0.61, 95% confidence interval 0.36 to 1.04) were associated with reductions in the likelihood of the composite outcome. These protective associations were most significant for cerebrovascular disease events and all-cause death. Subgroup analyses by gender, race or ethnicity, history of AD, diabetes status, and estimated renal function showed consistent estimates across strata, with no significant differences between ezetimibe and statin use. In conclusion, ezetimibe appeared to have a protective effect on major AD events and all-cause death that was not significantly different from that observed for statin use.

  2. Reasoning over genetic variance information in cause-and-effect models of neurodegenerative diseases.

    PubMed

    Naz, Mufassra; Kodamullil, Alpha Tom; Hofmann-Apitius, Martin

    2016-05-01

    The work we present here is based on the recent extension of the syntax of the Biological Expression Language (BEL), which now allows for the representation of genetic variation information in cause-and-effect models. In our article, we describe, how genetic variation information can be used to identify candidate disease mechanisms in diseases with complex aetiology such as Alzheimer's disease and Parkinson's disease. In those diseases, we have to assume that many genetic variants contribute moderately to the overall dysregulation that in the case of neurodegenerative diseases has such a long incubation time until the first clinical symptoms are detectable. Owing to the multilevel nature of dysregulation events, systems biomedicine modelling approaches need to combine mechanistic information from various levels, including gene expression, microRNA (miRNA) expression, protein-protein interaction, genetic variation and pathway. OpenBEL, the open source version of BEL, has recently been extended to match this requirement, and we demonstrate in our article, how candidate mechanisms for early dysregulation events in Alzheimer's disease can be identified based on an integrative mining approach that identifies 'chains of causation' that include single nucleotide polymorphism information in BEL models.

  3. HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.

    PubMed

    Träger, Ulrike; Andre, Ralph; Lahiri, Nayana; Magnusson-Lind, Anna; Weiss, Andreas; Grueninger, Stephan; McKinnon, Chris; Sirinathsinghji, Eva; Kahlon, Shira; Pfister, Edith L; Moser, Roger; Hummerich, Holger; Antoniou, Michael; Bates, Gillian P; Luthi-Carter, Ruth; Lowdell, Mark W; Björkqvist, Maria; Ostroff, Gary R; Aronin, Neil; Tabrizi, Sarah J

    2014-03-01

    Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system contributes to Huntington's disease pathogenesis and has been targeted successfully to modulate disease progression, but mechanistic understanding relating this to mutant huntingtin expression in immune cells has been lacking. Here we demonstrate that human Huntington's disease myeloid cells produce excessive inflammatory cytokines as a result of the cell-intrinsic effects of mutant huntingtin expression. A direct effect of mutant huntingtin on the NFκB pathway, whereby it interacts with IKKγ, leads to increased degradation of IκB and subsequent nuclear translocation of RelA. Transcriptional alterations in intracellular immune signalling pathways are also observed. Using a novel method of small interfering RNA delivery to lower huntingtin expression, we show reversal of disease-associated alterations in cellular function-the first time this has been demonstrated in primary human cells. Glucan-encapsulated small interfering RNA particles were used to lower huntingtin levels in human Huntington's disease monocytes/macrophages, resulting in a reversal of huntingtin-induced elevated cytokine production and transcriptional changes. These findings improve our understanding of the role of innate immunity in neurodegeneration, introduce glucan-encapsulated small interfering RNA particles as tool for studying cellular pathogenesis ex vivo in human cells and raise the prospect of immune cell-directed HTT-lowering as a therapeutic in Huntington's disease.

  4. Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

    PubMed

    Meeths, Marie; Chiang, Samuel C C; Löfstedt, Alexandra; Müller, Martha-Lena; Tesi, Bianca; Henter, Jan-Inge; Bryceson, Yenan T

    2014-07-01

    In experimental settings, lymphocyte cytotoxicity has been recognized as a central mechanism for immune defense against infected and neoplastic cells. More recently, molecular determinants of lymphocyte cytotoxicity have been identified through studies of rare, inherited hyperinflammatory and lymphoproliferative syndromes that include hemophagocytic lymphohistiocytosis (HLH). These studies have unraveled a set of genes pivotal for the biogenesis and directed release of perforin-containing lysosomes that mediate target cell killing, in addition to other pathways including Fas that also contribute to induction of cell death. Furthermore, studies of such human primary immunodeficiencies have highlighted non-redundant roles of perforin for maintenance of immune homeostasis. Besides providing mechanistic insights to lymphocyte cytotoxicity, studies of individuals with rare hyperinflammatory diseases are highlighting the relevance of lymphocyte cytotoxicity to more common human diseases. It is increasingly recognized that mutations abrogating lymphocyte cytotoxicity not only cause HLH, but also are associated with susceptibility to cancer and autoimmune syndromes. In addition, patients may initially be present with neurological symptoms or severe infectious disease masquerading as variable immunodeficiency syndrome. Here, we highlight new knowledge regarding the molecular mechanisms regulating lymphocyte cytotoxicity and review how mutations in genes associated with HLH cause disease. We also discuss the wider implications of impairments in lymphocyte cytotoxicity for human disease predisposition.

  5. Identification of a New Cotton Disease Caused by an Atypical Cotton Leafroll Dwarf Virus in Argentina.

    PubMed

    Agrofoglio, Yamila C; Delfosse, Verónica C; Casse, María F; Hopp, Horacio E; Kresic, Iván Bonacic; Distéfano, Ana J

    2017-03-01

    An outbreak of a new disease occurred in cotton (Gossypium hirsutum) fields in northwest Argentina starting in the 2009-10 growing season and is still spreading steadily. The characteristic symptoms of the disease included slight leaf rolling and a bushy phenotype in the upper part of the plant. In this study, we determined the complete nucleotide sequences of two independent virus genomes isolated from cotton blue disease (CBD)-resistant and -susceptible cotton varieties. This virus genome comprised 5,866 nucleotides with an organization similar to that of the genus Polerovirus and was closely related to cotton leafroll dwarf virus, with protein identity ranging from 88 to 98%. The virus was subsequently transmitted to a CBD-resistant cotton variety using Aphis gossypii and symptoms were successfully reproduced. To study the persistence of the virus, we analyzed symptomatic plants from CBD-resistant varieties from different cotton-growing fields between 2013 and 2015 and showed the presence of the same virus strain. In addition, a constructed full-length infectious cDNA clone from the virus caused disease symptoms in systemic leaves of CBD-resistant cotton plants. Altogether, the new leafroll disease in CBD-resistant cotton plants is caused by an atypical cotton leafroll dwarf virus.

  6. How Do the Virulence Factors of Shigella Work Together to Cause Disease?

    PubMed Central

    Mattock, Emily; Blocker, Ariel J.

    2017-01-01

    Shigella is the major cause of bacillary dysentery world-wide. It is divided into four species, named S. flexneri, S. sonnei, S. dysenteriae, and S. boydii, which are distinct genomically and in their ability to cause disease. Shigellosis, the clinical presentation of Shigella infection, is characterized by watery diarrhea, abdominal cramps, and fever. Shigella's ability to cause disease has been attributed to virulence factors, which are encoded on chromosomal pathogenicity islands and the virulence plasmid. However, information on these virulence factors is not often brought together to create a detailed picture of infection, and how this translates into shigellosis symptoms. Firstly, Shigella secretes virulence factors that induce severe inflammation and mediate enterotoxic effects on the colon, producing the classic watery diarrhea seen early in infection. Secondly, Shigella injects virulence effectors into epithelial cells via its Type III Secretion System to subvert the host cell structure and function. This allows invasion of epithelial cells, establishing a replicative niche, and causes erratic destruction of the colonic epithelium. Thirdly, Shigella produces effectors to down-regulate inflammation and the innate immune response. This promotes infection and limits the adaptive immune response, causing the host to remain partially susceptible to re-infection. Combinations of these virulence factors may contribute to the different symptoms and infection capabilities of the diverse Shigella species, in addition to distinct transmission patterns. Further investigation of the dominant species causing disease, using whole-genome sequencing and genotyping, will allow comparison and identification of crucial virulence factors and may contribute to the production of a pan-Shigella vaccine. PMID:28393050

  7. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease Type 1a

    SciTech Connect

    Lei, K.J.; Shelly, L.L.; Pan, C.J.; Sidbury, J.B.; Chou, J.Y. )

    1993-10-22

    Glycogen storage disease (GSD) type 1a is caused by the deficiency of d-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein, which is indistinguishable from human microsomal G6Pase are reported. Several mutations in the G6Pase gene of affected individuals that completely inactivate the enzyme have been identified. These results establish the molecular basis of this disease and open the way for future gene therapy.

  8. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

    PubMed

    Moyer, J H; Lee-Tischler, M J; Kwon, H Y; Schrick, J J; Avner, E D; Sweeney, W E; Godfrey, V L; Cacheiro, N L; Wilkinson, J E; Woychik, R P

    1994-05-27

    A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney disease (PKD) gene was identified whose structure and expression are directly associated with the mutant locus. A complementary DNA derived from this gene predicted a peptide containing a motif that was originally identified in several genes involved in cell cycle control.

  9. Orf Disease Following "Eid ul-Adha": A Rare Cause of Erythema Multiforme.

    PubMed

    Shahmoradi, Zabihollah; Abtahi-Naeini, Bahareh; Pourazizi, Mohsen; Meidani, Mohsen

    2014-07-01

    Orf, also known as contagious pustular dermatitis, is an exanthemous disease caused by a parapox virus. It is usually a benign locally self-limiting illness; it can have systemic complication or progressive infected locations can include the finger, hand, arm, and face. Development of erythema multiforme following Orf infection is very rare. In Islamic populations such as those of Iran, Orf can be observed in individuals who are not occupationally involved, but may be in contact with sheep or goats after the Islamic worship as an "Eid ul-Adha." Here we report an erythema multiforme associated with multiple lesion of Orf disease following the "Eid ul-Adha" in Iranian housewives.

  10. Parapoxvirus causes a deleterious disease in red squirrels associated with UK population declines.

    PubMed Central

    Tompkins, Daniel M; Sainsbury, A W; Nettleton, P; Buxton, D; Gurnell, J

    2002-01-01

    The disease implications of novel pathogens need to be considered when investigating the ecological impact of species translocations on native fauna. Traditional explanations based on competition or predation may often not be the whole story. Evidence suggests that an emerging infectious disease, caused by a parapoxvirus, may be a significant component of the impact that the introduced grey squirrel has had on UK red squirrel populations. Here we validate the potential role of parapoxvirus by proving that the virus is highly pathogenic in the red squirrel while having no detectable effect on grey squirrel health. PMID:11886647

  11. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice

    SciTech Connect

    Moyer, J.H.; Lee-Tischler, M.J.; Kwon, H.Y.; Schrick, J.J. ); Avner, E.D.; Sweeney, W.E. ); Godfrey, V.L.; Cacheiro, N.L.A.; Woychik, R.P. ); Wilkinson, J.E. )

    1994-05-27

    A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney disease (PKD) gene was identified whose structure and expression are directly associated with the mutant locus. A complementary DNA derived from this gene predicted a peptide containing a motif that was originally identified in several genes involved in cell cycle control.

  12. Mortality Due to Chagas Disease in Brazil According to a Specific Cause

    PubMed Central

    da Nóbrega, Aglaêr Alves; de Araújo, Wildo Navegantes; Vasconcelos, Ana Maria Nogales

    2014-01-01

    A century after its discovery, Chagas disease (CD) is still considered a public health problem. Mortality caused by CD between 2000 and 2010 was described according to the specific underlying cause, year of occurrence, gender, age range, and region of Brazil. The standardized mortality rate decreased 32.4%, from 3.4% in 2000 to 2.3% in 2010. Most of the deaths (85.9%) occurred in male patients who were > 60 years of age caused by cardiac involvement. The mortality rate caused by cardiac involvement decreased in all regions of Brazil, except in the North region, where it increased by 1.6%. The Northeast had the smallest and the Central-West had the largest decrease. The mortality rate caused by a compromised digestive tract increased in all regions. Despite the control of transmission by vector and blood transfusions, CD should remain on the list of priority diseases for the public health service in Brazil, and surveillance actions cannot be interrupted. PMID:25002301

  13. Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

    PubMed Central

    Guo, Dong-Chuan; Papke, Christina L.; Tran-Fadulu, Van; Regalado, Ellen S.; Avidan, Nili; Johnson, Ralph Jay; Kim, Dong H.; Pannu, Hariyadarshi; Willing, Marcia C.; Sparks, Elizabeth; Pyeritz, Reed E.; Singh, Michael N.; Dalman, Ronald L.; Grotta, James C.; Marian, Ali J.; Boerwinkle, Eric A.; Frazier, Lorraine Q.; LeMaire, Scott A.; Coselli, Joseph S.; Estrera, Anthony L.; Safi, Hazim J.; Veeraraghavan, Sudha; Muzny, Donna M.; Wheeler, David A.; Willerson, James T.; Yu, Robert K.; Shete, Sanjay S.; Scherer, Steven E.; Raman, C.S.; Buja, L. Maximilian; Milewicz, Dianna M.

    2009-01-01

    The vascular smooth muscle cell (SMC)-specific isoform of α-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers have aortic disease. Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. Sequencing of DNA from patients with nonfamilial TAAD and from premature-onset CAD patients independently identified ACTA2 mutations in these patients and premature onset strokes in family members with ACTA2 mutations. Vascular pathology and analysis of explanted SMCs and myofibroblasts from patients harboring ACTA2 suggested that increased proliferation of SMCs contributed to occlusive diseases. These results indicate that heterozygous ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, including TAAD, premature CAD, ischemic strokes, and MMD. These data demonstrate that diffuse vascular diseases resulting from either occluded or enlarged arteries can be caused by mutations in a single gene and have direct implications for clinical management and research on familial vascular diseases. PMID:19409525

  14. First Report of Fusarium subglutinans Causing Leaf Spot Disease on Cymbidium Orchids in Korea.

    PubMed

    Han, Kyung-Sook; Park, Jong-Han; Back, Chang-Gi; Park, Mi-Jeong

    2015-09-01

    In 2006~2010, leaf spot symptoms, that is, small, yellow spots that turned into dark brown-to-black lesions surrounded by a yellow halo, were observed on Cymbidium spp. in Gongju, Taean, and Gapyeong in Korea. A Fusarium species was continuously isolated from symptomatic leaves; in pathogenicity testing, isolates caused leaf spot symptoms consisting of sunken, dark brown lesions similar to the original ones. The causal pathogen was identified as Fusarium subglutinans based on morphological and translation elongation factor 1-alpha sequence analyses. This is the first report of F. subglutinans as the cause of leaf spot disease in Cymbidium spp. in Korea.

  15. First Report of Fusarium subglutinans Causing Leaf Spot Disease on Cymbidium Orchids in Korea

    PubMed Central

    Han, Kyung-Sook; Park, Jong-Han; Back, Chang-Gi

    2015-01-01

    In 2006~2010, leaf spot symptoms, that is, small, yellow spots that turned into dark brown-to-black lesions surrounded by a yellow halo, were observed on Cymbidium spp. in Gongju, Taean, and Gapyeong in Korea. A Fusarium species was continuously isolated from symptomatic leaves; in pathogenicity testing, isolates caused leaf spot symptoms consisting of sunken, dark brown lesions similar to the original ones. The causal pathogen was identified as Fusarium subglutinans based on morphological and translation elongation factor 1-alpha sequence analyses. This is the first report of F. subglutinans as the cause of leaf spot disease in Cymbidium spp. in Korea. PMID:26539053

  16. The role of positive selection in determining the molecular cause of species differences in disease

    PubMed Central

    2008-01-01

    Background Related species, such as humans and chimpanzees, often experience the same disease with varying degrees of pathology, as seen in the cases of Alzheimer's disease, or differing symptomatology as in AIDS. Furthermore, certain diseases such as schizophrenia, epithelial cancers and autoimmune disorders are far more frequent in humans than in other species for reasons not associated with lifestyle. Genes that have undergone positive selection during species evolution are indicative of functional adaptations that drive species differences. Thus we investigate whether biomedical disease differences between species can be attributed to positively selected genes. Results We identified genes that putatively underwent positive selection during the evolution of humans and four mammals which are often used to model human diseases (mouse, rat, chimpanzee and dog). We show that genes predicted to have been subject to positive selection pressure during human evolution are implicated in diseases such as epithelial cancers, schizophrenia, autoimmune diseases and Alzheimer's disease, all of which differ in prevalence and symptomatology between humans and their mammalian relatives. In agreement with previous studies, the chimpanzee lineage was found to have more genes under positive selection than any of the other lineages. In addition, we found new evidence to support the hypothesis that genes that have undergone positive selection tend to interact with each other. This is the first such evidence to be detected widely among mammalian genes and may be important in identifying molecular pathways causative of species differences. Conclusion Our dataset of genes predicted to have been subject to positive selection in five species serves as an informative resource that can be consulted prior to selecting appropriate animal models during drug target validation. We conclude that studying the evolution of functional and biomedical disease differences between species is an

  17. Complete nucleotide sequence of a potyvirus causing maize dwarf mosaic disease in central China.

    PubMed

    Liu, X; Wang, X; Zhao, Y; Zheng, C; Zhou, G

    2003-01-01

    The full-length nucleotide sequence of a potyvirus causing the maize dwarf mosaic (MDM) disease in Henan province, central China, was obtained by reverse transcription-polymerase chain reaction (RT-PCR) and rapid amplification of the cDNA 5'-end (5'-RACE). The viral genome comprised of 9596 nucleotides except the polyA tail and encoded a putative polyprotein of 3603 amino acids. The entire genomic sequence of this isolate shared identities of 94.2% and 98.3% with Sugarcane mosaic virus (SCMV) HZ isolate at the nucleotide and deduced amino acid levels, respectively, but only a 69.1% identity with MDM virus (MDMV) Bulgarian isolate (MDMV-Bg) at the nucleotide level. Phylogenetical tree analysis of the complete nucleotide sequences indicated that the Henan isolate of a potyvirus causing MDM disease is in fact a Henan strain of SCMV (SCMV-HN).

  18. Diseases causing end-stage renal failure in New South Wales.

    PubMed Central

    Stewart, J H; McCarthy, S W; Storey, B G; Roberts, B A; Gallery, E; Mahony, J F

    1975-01-01

    The nature of the original renal disease was determined in 403 consecutive cases of end-stage renal failure, in 317 of which the clinical diagnosis was corroborated by histological examination of the kidney. Five diseases accounted for 20 or more cases--glomerulonephritis (31% of the total), analgesic nephropathy (29%), primary vesicoureteral reflux (8%), essential hypertension (6%), and polycystic kidneys (5%). In only four cases did renal failure result from chronic pyelonephritis without a demonstrable primary cause. Greater use of micturating cystography and cystoscopy and routine urine testing for salicylate are advocated for earlier diagnosis of the major causes of "pyelonephritis". The incidence of end-stage renal failure in people aged 15-55 in New South Wales was estimated to be at least 34 new cases per million of total population each year. PMID:1090338

  19. Drug Resistance Mechanisms in Bacteria Causing Sexually Transmitted Diseases and Associated with Vaginosis

    PubMed Central

    Shaskolskiy, Boris; Dementieva, Ekaterina; Leinsoo, Arvo; Runina, Anastassia; Vorobyev, Denis; Plakhova, Xenia; Kubanov, Alexey; Deryabin, Dmitrii; Gryadunov, Dmitry

    2016-01-01

    Here, we review sexually transmitted diseases (STDs) caused by pathogenic bacteria and vaginal infections which result from an overgrowth of opportunistic bacterial microflora. First, we describe the STDs, the corresponding pathogens and the antimicrobials used for their treatment. In addition to the well-known diseases caused by single pathogens (i.e., syphilis, gonococcal infections, and chlamydiosis), we consider polymicrobial reproductive tract infections (especially those that are difficult to effectively clinically manage). Then, we summarize the biochemical mechanisms that lead to antimicrobial resistance and the most recent data on the emergence of drug resistance in STD pathogens and bacteria associated with vaginosis. A large amount of research performed in the last 10–15 years has shed light on the enormous diversity of mechanisms of resistance developed by bacteria. A detailed understanding of the mechanisms of antimicrobials action and the emergence of resistance is necessary to modify existing drugs and to develop new ones directed against new targets. PMID:27242760

  20. Occupational obstructive airway diseases in Germany: Frequency and causes in an international comparison

    SciTech Connect

    Latza, U.; Baur, X.

    2005-08-01

    Occupational inhalative exposures contribute to a significant proportion of obstructive airway diseases (OAD), namely chronic obstructive pulmonary disease (COPD) and asthma. The number of occupational OAD in the German industrial sector for the year 2003 are presented. Other analyses of surveillance data were retrieved from Medline. Most confirmed reports of OAD are cases of sensitizer induced occupational asthma (625 confirmed cases) followed by COPD in coal miners (414 cases), irritant induced occupational asthma (156 cases), and isocyanate asthma (54 cases). Main causes of occupational asthma in Germany comprise flour/flour constituents (35.9%), food/feed dust (9.0%), and isocyanates (6.5%). Flour and grain dust is a frequent cause of occupational asthma in most European countries and South Africa. Isocyanates are still a problem worldwide. Although wide differences in the estimated incidences between countries exist due to deficits in the coverage of occupational OAD, the high numbers necessitate improvement of preventive measures.

  1. Atypical presentation of Creutzfeldt-Jakob disease: a rare but important cause of rapidly progressive dementia.

    PubMed

    Taillefer, Marguerite S; Tangarorang, Glendo L; Kuchel, George A; Menkes, Daniel L

    2011-09-01

    We report an atypical presentation of sporadic Creutzfeldt-Jakob disease (CJD) in a 74-year-old woman that illustrates the difficulty in diagnosing this rare, but important, cause of rapidly progressive dementia. Despite well-established criteria, this diagnosis is often missed or substantially delayed (Table 1). In this case, a precipitous cognitive decline associated with a urinary tract infection initiallysuggested delirium. Although atypical CJD was considered as a cause when symptoms persisted, a definitive diagnosis was established postmortem when the cerebrospinal fluid (CSF) prion protein 14-3-3 tested positive. Creutzfeldt-Jakob disease must be considered in the differential diagnosis of rapidly progressive dementia as Connecticut accounts for approximately three of the more than 200 cases diagnosed nationally.

  2. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

    PubMed

    Müller, Thomas; Hess, Michael W; Schiefermeier, Natalia; Pfaller, Kristian; Ebner, Hannes L; Heinz-Erian, Peter; Ponstingl, Hannes; Partsch, Joachim; Röllinghoff, Barbara; Köhler, Henrik; Berger, Thomas; Lenhartz, Henning; Schlenck, Barbara; Houwen, Roderick J; Taylor, Christopher J; Zoller, Heinz; Lechner, Silvia; Goulet, Olivier; Utermann, Gerd; Ruemmele, Frank M; Huber, Lukas A; Janecke, Andreas R

    2008-10-01

    Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.

  3. Cluster of Legionnaires disease cases caused by Legionella longbeachae serogroup 1, Scotland, August to September 2013.

    PubMed

    Potts, A; Donaghy, M; Marley, M; Othieno, R; Stevenson, J; Hyland, J; Pollock, K G; Lindsay, D; Edwards, G; Hanson, M F; Helgason, K O

    2013-12-12

    We report six confirmed cases of Legionnaires' disease in Scotland caused by Legionella longbeachae serogroup 1, identified over a four-week period in August–September 2013. All cases required admission to hospital intensive care facilities. All cases were amateur gardeners with frequent exposure to horticultural growing media throughout their incubation period. L. longbeachae was identified in five samples of growing media linked to five cases. Product tracing did not identify a common product or manufacturer.

  4. First Report of Myrothecium roridum Causing Leaf and Stem Rot Disease on Peperomia quadrangularis in Korea.

    PubMed

    Han, Kyung-Sook; Choi, Seung-Kook; Kim, Hyeong-Hwan; Lee, Sung-Chan; Park, Jong-Han; Cho, Myoung-Rae; Park, Mi-Jeong

    2014-06-01

    In 2010, symptoms of leaf and stem rot were observed on potted plants (Peperomia quadrangularis) in a greenhouse in Yongin, Korea. The causative pathogen was identified as Myrothecium roridum based on morphological data, internal transcribed spacer sequence analysis, and pathogenicity test. To our knowledge, this is the first report of M. roridum causing leaf and stem rot disease on P. quadrangularis in Korea and elsewhere worldwide.

  5. Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Six unique arylsulfatase B gene alleles causing variable disease phenotypes

    SciTech Connect

    Isbrandt, D.; Arlt, G.; Figura, K. von; Peters, C.; Brooks, D.A.; Hopwood, J.J.

    1994-03-01

    Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B (ASB), also known as N-acetylgalactosamine-4-sulfatase. Multiple clinical phenotypes of this autosomal recessively inherited disease have been described. Recent isolation and characterization of the human ASB gene facilitated the analysis of molecular defects underlying the different phenotypes. Conditions for PCR amplification of the entire open reading frame from genomic DNA and for subsequent direct automated DNA sequencing of the resulting DNA fragments were established. Besides two polymorphisms described elsewhere that cause methionine-for-valine substitutions in the arylsulfatase B gene, six new mutations in six patients were detected: four point mutations resulting in amino acid substitutions, a 1-bp deletion, and a 1-bp insertion. The point mutations were two G-to-A and two T-to-C transitions. The G-to-A transitions cause an arginine-for-glycine substitution at residue 144 in a homoallelic patient with a severe disease phenotype and a tyrosine-for-cysteine substitution at residue 521 in a potentially heteroallelic patient with the severe form of the disease. The T-to-C transitions cause an arginine-for-cysteine substitution at amino acid residue 192 in a homoallelic patient with mild symptoms and a proline-for-leucine substitution at amino acid 321 in a homoallelic patient with the intermediate form. The insertion between nucleotides T1284 and G1285 resulted in a loss of the 100 C-terminal amino acids of the wild-type protein and in the deletion of nucleotide C1577 in a 39-amino-acid C-terminal extension of the ASB polypeptide. Both mutations were detected in homoallelic patients with the severe form of the disease. Expression of mutant cDNAs encoding the four amino acid substitutions and the deletion resulted in reduction of both ASB protein levels and arylsulfatase enzyme activity. 25 refs., 4 figs.

  6. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

    PubMed Central

    Kun-Rodrigues, Celia; Ganos, Christos; Guerreiro, Rita; Schneider, Susanne A.; Schulte, Claudia; Lesage, Suzanne; Darwent, Lee; Holmans, Peter; Singleton, Andrew; Bhatia, Kailash; Bras, Jose

    2015-01-01

    Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent–child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein–protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes. PMID:26362251

  7. Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease.

    PubMed

    Somavarapu, Arun Kumar; Kepp, Kasper P

    2016-04-01

    Nearly 200 mutations in the gene coding for presenilin 1 (PSEN1) cause early-onset Alzheimer's disease, yet the molecular mechanism remains obscure. As a meta-analysis, we compiled available clinical and biochemical data for PSEN1 variants and correlated these to chemical properties of the mutants. We found statistically significant relationships between relative Aβ42 levels and clinical age of onset. We then computed chemical properties of the mutants from a variety of computational chemistry tools. Relative Aβ42 levels correlated significantly (95% confidence or more from p-values of linear regression) with loss of hydrophobicity for four different regression analyses (squared correlation coefficient of linear regression R(2) of 0.41-0.53) and with increased polarity (R(2) = 0.47, 0.59) and loss of protein stability (R(2) = 0.39, 0.63) for two independent data sets. Age of onset of patients carrying PSEN1 variants correlated with increased polarity (R(2) = 0.49, 0.40) and loss of stability (R(2) = 0.75, 0.44) of the protein for both data sets. These relations suggest that mutants impair the membrane-associated structural integrity of presenilin by reducing hydrophobic membrane association and overall protein stability. This explains why the many mutations that spread out across the protein and far from the catalytic aspartates can cause disease. The identified molecular determinants of clinical age of symptom onset may be relevant to future presenilin-modulating therapies specifically directed towards increasing the structural integrity and packing of the protein. Close to 200 mutations in presenilin 1 (PSEN1) cause Alzheimer's disease, but the biochemical relating these to disease remains debated. The chemical properties of PSEN1 variants were computed and correlated against clinical age of symptom onset. Loss of stability and hydrophobicity and gain of polarity relate to disease onset, suggesting that mutants impair the membrane structure of PSEN1 and that

  8. [Infectious diseases caused by carbapenemase-producing Enterobacteriaceae--a particular challenge for antibacterial therapy].

    PubMed

    Stock, Ingo

    2014-05-01

    Enterobacteriaceae species such as Escherichia coli and Klebsiella pneumoniae are among the most common human pathogens. They are responsible for a wide range of community-acquired and nosocomial diseases. Many of the illnesses caused by these bacteria could be treated with beta-lactams for several decades. The increasing use of carbapenems for the treatment of diseases caused by Enterobacteriaceae expressing extended spectrum beta-lactamases, however, lead to the selection and spread of carbapenemase-producing pathogens. Such bacteria are not only resistant to virtually all beta-lactams, but also to numerous other antibiotics such as quinolones, co-trimoxazole, nitrofurantoin, tetracyclines and most aminoglycosides. During the last years, carbapenemase-producing Enterobacteriaceae have spread into almost all regions of the world. Klebsiella pneumoniae carbapenemases (KPC, belonging to Ambler class A), OXA-48 enzymes and their derivatives (belonging to Ambler class D) as well as some metallo-beta-lactamases (Ambler class B) such as NDM, VIM and IMP are the most important carbapenemases produced by Enterobacteriaceae strains. In Germany, the metallo-carbapenemase GIM-1, which has never been proven in bacteria outside Germany, is also of clinical significance. There is no established antibacterial therapy for these difficult-to-treat diseases. For the treatment of severe diseases caused by carbapenemase-producing bacteria, fosfomycin, gentamicin and tigecycline, polymyxins such as polymyxin B or colistin as well as carbapenems, are frequently applied. Combination antibiotic treatment may be more effective than monotherapy for severe ill patients with serious diseases. The most promising new treatment options arise with the development of avibactam. This non-beta-lactam beta-lactamase inhibitor shows good activity against (nearly) all class A and class C beta-lactamases (including strains expressing class A carbapenemases and/or derepressed AmpC enzymes) as well as

  9. Does infectious disease cause global variation in the frequency of intrastate armed conflict and civil war?

    PubMed

    Letendre, Kenneth; Fincher, Corey L; Thornhill, Randy

    2010-08-01

    Geographic and cross-national variation in the frequency of intrastate armed conflict and civil war is a subject of great interest. Previous theory on this variation has focused on the influence on human behaviour of climate, resource competition, national wealth, and cultural characteristics. We present the parasite-stress model of intrastate conflict, which unites previous work on the correlates of intrastate conflict by linking frequency of the outbreak of such conflict, including civil war, to the intensity of infectious disease across countries of the world. High intensity of infectious disease leads to the emergence of xenophobic and ethnocentric cultural norms. These cultures suffer greater poverty and deprivation due to the morbidity and mortality caused by disease, and as a result of decreased investment in public health and welfare. Resource competition among xenophobic and ethnocentric groups within a nation leads to increased frequency of civil war. We present support for the parasite-stress model with regression analyses. We find support for a direct effect of infectious disease on intrastate armed conflict, and support for an indirect effect of infectious disease on the incidence of civil war via its negative effect on national wealth. We consider the entanglements of feedback of conflict into further reduced wealth and increased incidence of disease, and discuss implications for international warfare and global patterns of wealth and imperialism.

  10. Evidence for Autoinduction and Quorum Sensing in White Band Disease-Causing Microbes on Acropora cervicornis

    NASA Astrophysics Data System (ADS)

    Certner, Rebecca H.; Vollmer, Steven V.

    2015-06-01

    Coral reefs have entered a state of global decline party due to an increasing incidence of coral disease. However, the diversity and complexity of coral-associated bacterial communities has made identifying the mechanisms underlying disease transmission and progression extremely difficult. This study explores the effects of coral cell-free culture fluid (CFCF) and autoinducer (a quorum sensing signaling molecule) on coral-associated bacterial growth and on coral tissue loss respectively. All experiments were conducted using the endangered Caribbean coral Acropora cervicornis. Coral-associated microbes were grown on selective media infused with CFCF derived from healthy and white band disease-infected A. cervicornis. Exposure to diseased CFCF increased proliferation of Cytophaga-Flavobacterium spp. while exposure to healthy CFCF inhibited growth of this group. Exposure to either CFCF did not significantly affect Vibrio spp. growth. In order to test whether disease symptoms can be induced in healthy corals, A. cervicornis was exposed to bacterial assemblages supplemented with exogenous, purified autoinducer. Incubation with autoinducer resulted in complete tissue loss in all corals tested in less than one week. These findings indicate that white band disease in A. cervicornis may be caused by opportunistic pathogenesis of resident microbes.

  11. New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.

    PubMed

    Noriega, Elizabeth; Ramos, Edwardo

    2013-12-01

    Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy caused by mutations in more than 30 different genes. One of the genes encodes for periaxin (PRX) protein, which is required for the maintenance of peripheral nerve myelin. Individuals with PRX gene mutations have been described to present early-onset, autosomal recessive, demyelinating CMT disease or CMT4F subtype. Only 23 mutations involving the PRX gene have been reported in patients throughout the world. We describe a case of a Puerto Rican adolescent with history, neurologic examination, electromyographic data, and laboratory tests consistent with CMT4F. Genetic analysis of this individual showed a heterozygous transversion resulting in amino acid change from arginine to glycine in the PRX gene, suggesting CMT4F. We report this novel PRX mutation to expand the clinical spectrum of CMT disease.

  12. Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations

    PubMed Central

    Zhai, Liting; Feng, Lingling; Xia, Lin; Yin, Huiyong; Xiang, Song

    2016-01-01

    Glycogen is a branched glucose polymer and serves as an important energy store. Its debranching is a critical step in its mobilization. In animals and fungi, the 170 kDa glycogen debranching enzyme (GDE) catalyses this reaction. GDE deficiencies in humans are associated with severe diseases collectively termed glycogen storage disease type III (GSDIII). We report crystal structures of GDE and its complex with oligosaccharides, and structure-guided mutagenesis and biochemical studies to assess the structural observations. These studies reveal that distinct domains in GDE catalyse sequential reactions in glycogen debranching, the mechanism of their catalysis and highly specific substrate recognition. The unique tertiary structure of GDE provides additional contacts to glycogen besides its active sites, and our biochemical experiments indicate that they mediate its recruitment to glycogen and regulate its activity. Combining the understanding of the GDE catalysis and functional characterizations of its disease-causing mutations provides molecular insights into GSDIII. PMID:27088557

  13. First Report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) Causing Severe Disease in Allomyrina dichotoma in Korea

    PubMed Central

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6 wk. This viral disease spreads very fast in several locations throughout Korea. This threat not only makes economic loss of local farms rearing A. dichotoma larvae but also may disturb the ecosystem by transmitting to wild A. dichotoma. PMID:25765317

  14. A derangement of the brain wound healing process may cause some cases of Alzheimer's disease.

    PubMed

    Lehrer, Steven; Rheinstein, Peter H

    2016-08-01

    A derangement of brain wound healing may cause some cases of Alzheimer's disease. Wound healing, a highly complex process, has four stages: hemostasis, inflammation, repair, and remodeling. Hemostasis and the initial phases of inflammation in brain tissue are typical of all vascularized tissue, such as skin. However, distinct differences arise in brain tissue during the later stages of inflammation, repair, and remodeling, and closely parallel the changes of Alzheimer's disease. Our hypothesis -- Alzheimer's disease is brain wound healing gone awry at least in some cases -- could be tested by measuring progression with biomarkers for the four stages of wound healing in humans or appropriate animal models. Autopsy studies might be done. Chronic traumatic encephalopathy might also result from the brain wound healing process.

  15. Carcinoid Heart Disease without Liver Involvement Caused by a Primary Ovarian Carcinoid Tumour.

    PubMed

    Agarwal, Chirag; Goel, Sunny; Stern, Eric; Warner, Richard; Castillo, Javier; Croft, Lori; Lavine, Ronald; Zacks, Jerome

    2015-07-01

    Carcinoid heart disease, caused by primary ovarian carcinoid tumour, is a rare form of valvular heart disease. This form of heart disease usually presents with symptoms of right-sided valvular dysfunction, ultimately leading to right-sided heart failure. This entity is unique as it develops in the absence of liver metastasis. We report a case of 75 year-old woman with primary ovarian carcinoid tumour who presented with symptoms of severe right-sided heart failure and successfully underwent pulmonic and tricuspid valve replacement along with a right ventricular (RV) outflow patch enlargement. This patient later underwent uneventful resection of the primary ovarian carcinoid tumour, with complete resolution of her symptoms.

  16. Biology, Systematics, Life Cycle, and Distribution of Angiostrongylus cantonensis, the Cause of Rat Lungworm Disease

    PubMed Central

    2013-01-01

    Angiostrongylus cantonensis is a metastrongyloid nematode in the family Angiostrongylidae. It is the cause of angiostrongyliasis (rat lungworm disease), which manifests as eosinophilic meningitis. First described in 1935 from rats in China, A. cantonensis was placed in the genus Parastrongylus in 1986, but most workers have not adopted this treatment. The taxonomy of A. cantonensis and related worms is largely based on adult morphology, notably of the male bursa. However, identification of infective third stage larvae is more difficult. The natural life cycle involves rats as the definitive host and snails or slugs as the intermediate host. Human infection, as accidental hosts, results in worms maturing in the brain, but dying there instead of moving back into the bloodstream, as in rats, thereby leading to eosinophilic meningitis. The disease is an emerging infectious disease; Angiostrongylus cantonensis continues to be reported in new regions beyond its native range. PMID:23901372

  17. Leaf anthracnose, a new disease of swallow-worts from Russia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Black swallow-wort Vincetoxicum nigrum (L.) Moench (synonym=Cynanchum louiseae Kartesz & Gandhi) and pale swallow-wort Vincetoxicum rossicum (Kleopow) Borhidi (synonym=Cynanchum rossicum (Kleopow) Borhidi) are invasive plants belonging to the family Apocynaceae and are the targets of biological cont...

  18. Assessment of genetic diversity and anthracnose disease response among Zimbabwe sorghum germplasm.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The USDA-ARS National Plant Germplasm System maintains a Zimbabwe sorghum collection of 1,235 accessions from different provinces. This germplasm has not been extensively employed in U.S. breeding programs due to the lack of phenotypic and genetic characterization. Therefore, 68 accessions from th...

  19. A Disease-Causing Variant in PCNA Disrupts a Promiscuous Protein Binding Site.

    PubMed

    Duffy, Caroline M; Hilbert, Brendan J; Kelch, Brian A

    2016-03-27

    The eukaryotic DNA polymerase sliding clamp, proliferating cell nuclear antigen or PCNA, is a ring-shaped protein complex that surrounds DNA to act as a sliding platform for increasing processivity of cellular replicases and for coordinating various cellular pathways with DNA replication. A single point mutation, Ser228Ile, in the human PCNA gene was recently identified to cause a disease whose symptoms resemble those of DNA damage and repair disorders. The mutation lies near the binding site for most PCNA-interacting proteins. However, the structural consequences of the S228I mutation are unknown. Here, we describe the structure of the disease-causing variant, which reveals a large conformational change that dramatically transforms the binding pocket for PCNA client proteins. We show that the mutation markedly alters the binding energetics for some client proteins, while another, p21(CIP1), is only mildly affected. Structures of the disease variant bound to peptides derived from two PCNA partner proteins reveal that the binding pocket can adjust conformation to accommodate some ligands, indicating that the binding site is dynamic and pliable. Our work has implications for the plasticity of the binding site in PCNA and reveals how a disease mutation selectively alters interactions to a promiscuous binding site that is critical for DNA metabolism.

  20. The dynamics of spreading bacterial diseases and ilnesses caused by helminthosis in Adjara Autonomous Republic 2011.

    PubMed

    Lomtatidze, N; Chachnelidze, R; Chkaidze, M

    2013-01-01

    According to the data of past few years it has been determined that the general incidence and the prevalence of the bacterial and helminthosis diseases have increased. Epidemic Supervision has registered a slight increase of such diseases in data of 2011. Taking into consideration this fact, this research is quite important for the region of Adjara. The aim of our research is to study the dynamics of spreading some bacterial and helminthosis diseases in Adjara Autonomous Republic. In particular, the diseases caused by different bacterias of leptospira family - leptospirosis and illnesses caused by helminthosis - ascariasis, enterobiasis and trichocephalosis. according to the reseaches held it has been determined that there have been several cases of leptospirosis registered in Adjara. Specifically, 10 cases in 2008, 6 in 2009, 30 in 2010 and 31 cases in 2011 out of which 10 of the cases where laboratorily claimed. There were cases of ascariasis, enterobiasis and trichocephalosis. According to data, there are 5 times less cases of trichocephalosis than of ascariasis. As for enterobiasis, it's less than ascariasis (the difference is 205 cases). In therms of the aging, all the cases occur more frequently in the group of children below the age of 14.

  1. Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.

    PubMed

    Ittisoponpisan, Sirawit; Alhuzimi, Eman; Sternberg, Michael J E; David, Alessia

    2017-03-01

    Pleiotropy is the phenomenon by which the same gene can result in multiple phenotypes. Pleiotropic proteins are emerging as important contributors to rare and common disorders. Nevertheless, little is known on the mechanisms underlying pleiotropy and the characteristic of pleiotropic proteins. We analyzed disease-causing proteins reported in UniProt and observed that 12% are pleiotropic (variants in the same protein cause more than one disease). Pleiotropic proteins were enriched in deleterious and rare variants, but not in common variants. Pleiotropic proteins were more likely to be involved in the pathogenesis of neoplasms, neurological, and circulatory diseases and congenital malformations, whereas non-pleiotropic proteins in endocrine and metabolic disorders. Pleiotropic proteins were more essential and had a higher number of interacting partners compared with non-pleiotropic proteins. Significantly more pleiotropic than non-pleiotropic proteins contained at least one intrinsically long disordered region (P < 0.001). Deleterious variants occurring in structurally disordered regions were more commonly found in pleiotropic, rather than non-pleiotropic proteins. In conclusion, pleiotropic proteins are an important contributor to human disease. They represent a biologically different class of proteins compared with non-pleiotropic proteins and a better understanding of their characteristics and genetic variants can greatly aid in the interpretation of genetic studies and drug design.

  2. Diseases of comfort: primary cause of death in the 22nd century

    PubMed Central

    Choi, B.; Hunter, D.; Tsou, W.; Sainsbury, P.

    2005-01-01

    Objective: To describe the concept, causes, and prevention and control strategies of diseases of comfort. Methods: Brokered by a senior research scientist specialised in knowledge translation, a chair, a president, and a past president of national public health associations contributed their views on the subject. Results: Diseases of comfort have emerged as a price of living in a modern society. It is inevitable that these diseases will become more common and more disabling if human "progress" and civilisation continue toward better (more comfortable) living, without necessarily considering their effects on health. Modern technology must be combined with education, legislation, intersectoral action, and community involvement to create built and social environments that encourage, and make easy, walking, physical activity, and nutritious food choices, to reduce the health damaging effects of modern society for all citizens and not only the few. Conclusions: Public health needs to be more passionate about the health issues caused by human progress and adopt a health promotion stance, challenging the assumptions behind the notion of social "progress" that is giving rise to the burden of chronic disease and developing the skills to create more health promoting societies in which individual health thrives. PMID:16286489

  3. Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.

    PubMed

    Gonzalo, Susana; Kreienkamp, Ray; Askjaer, Peter

    2017-01-01

    Products of the LMNA gene, primarily lamin A and C, are key components of the nuclear lamina, a proteinaceous meshwork that underlies the inner nuclear membrane and is essential for proper nuclear architecture. Alterations in lamin A and C that disrupt the integrity of the nuclear lamina affect a whole repertoire of nuclear functions, causing cellular decline. In humans, hundreds of mutations in the LMNA gene have been identified and correlated with over a dozen degenerative disorders, referred to as laminopathies. These diseases include neuropathies, muscular dystrophies, lipodystrophies, and premature aging diseases. This review focuses on one of the most severe laminopathies, Hutchinson-Gilford Progeria Syndrome (HGPS), which is caused by aberrant splicing of the LMNA gene and expression of a mutant product called progerin. Here, we discuss current views about the molecular mechanisms that contribute to the pathophysiology of this devastating disease, as well as the strategies being tested in vitro and in vivo to counteract progerin toxicity. In particular, progerin accumulation elicits nuclear morphological abnormalities, misregulated gene expression, defects in DNA repair, telomere shortening, and genomic instability, all of which limit cellular proliferative capacity. In patients harboring this mutation, a severe premature aging disease develops during childhood. Interestingly, progerin is also produced in senescent cells and cells from old individuals, suggesting that progerin accumulation might be a factor in physiological aging. Deciphering the molecular mechanisms whereby progerin expression leads to HGPS is an emergent area of research, which could bring us closer to understanding the pathology of aging.

  4. Epidemiology and Control of Strawberry Bacterial Angular Leaf Spot Disease Caused by Xanthomonas fragariae.

    PubMed

    Kim, Da-Ran; Gang, Gun-Hye; Jeon, Chang-Wook; Kang, Nam Jun; Lee, Sang-Woo; Kwak, Youn-Sig

    2016-08-01

    Strawberry bacterial angular leaf spot (ALS) disease, caused by Xanthomonas fragariae has become increasingly problematic in the strawberry agro-industry. ALS causes small angular water-soaked lesions to develop on the abaxial leaf surface. Studies reported optimum temperature conditions for X. fragariae are 20°C and the pathogen suffers mortality above 32°C. However, at the nursery stage, disease symptoms have been observed under high temperature conditions. In the present study, results showed X. fragariae transmission was via infected maternal plants, precipitation, and sprinkler irrigation systems. Systemic infections were detected using X. fragariae specific primers 245A/B and 295A/B, where 300-bp and 615-bp were respectively amplified. During the nursery stage (from May to August), the pathogen was PCR detected only in maternal plants, but not in soil or irrigation water through the nursery stage. During the cultivation period, from September to March, the pathogen was detected in maternal plants, progeny, and soil, but not in water. Additionally, un-infected plants, when planted with infected plants were positive for X. fragariae via PCR at the late cultivation stage. Chemical control for X. fragariae with oxolinic acid showed 87% control effects against the disease during the nursery period, in contrast to validamycin-A, which exhibited increased efficacy against the disease during the cultivation stage (control effect 95%). To our knowledge, this is the first epidemiological study of X. fragariae in Korean strawberry fields.

  5. Epidemiology and Control of Strawberry Bacterial Angular Leaf Spot Disease Caused by Xanthomonas fragariae

    PubMed Central

    Kim, Da-Ran; Gang, Gun-hye; Jeon, Chang-Wook; Kang, Nam Jun; Lee, Sang-woo; Kwak, Youn-Sig

    2016-01-01

    Strawberry bacterial angular leaf spot (ALS) disease, caused by Xanthomonas fragariae has become increasingly problematic in the strawberry agro-industry. ALS causes small angular water-soaked lesions to develop on the abaxial leaf surface. Studies reported optimum temperature conditions for X. fragariae are 20°C and the pathogen suffers mortality above 32°C. However, at the nursery stage, disease symptoms have been observed under high temperature conditions. In the present study, results showed X. fragariae transmission was via infected maternal plants, precipitation, and sprinkler irrigation systems. Systemic infections were detected using X. fragariae specific primers 245A/B and 295A/B, where 300-bp and 615-bp were respectively amplified. During the nursery stage (from May to August), the pathogen was PCR detected only in maternal plants, but not in soil or irrigation water through the nursery stage. During the cultivation period, from September to March, the pathogen was detected in maternal plants, progeny, and soil, but not in water. Additionally, un-infected plants, when planted with infected plants were positive for X. fragariae via PCR at the late cultivation stage. Chemical control for X. fragariae with oxolinic acid showed 87% control effects against the disease during the nursery period, in contrast to validamycin-A, which exhibited increased efficacy against the disease during the cultivation stage (control effect 95%). To our knowledge, this is the first epidemiological study of X. fragariae in Korean strawberry fields. PMID:27493604

  6. Barrier dysfunction caused by environmental proteases in the pathogenesis of allergic diseases.

    PubMed

    Takai, Toshiro; Ikeda, Shigaku

    2011-03-01

    Skin barrier dysfunction has emerged as a critical driving force in the initiation and exacerbation of atopic dermatitis and the "atopic march" in allergic diseases. The genetically determined barrier deficiency and barrier disruption by environmental and endogenous proteases in skin and epithelium are considered to increase the risk of sensitization to allergens and contribute to the exacerbation of allergic diseases. Sources of allergens such as mites, cockroaches, fungi, and pollen, produce or contain proteases, which are frequently themselves allergens. Staphylococcus aureus, which heavily colonizes the lesions of atopic dermatitis patients and is known to trigger a worsening of the disease, also produces extracellular proteases. Environmental proteases can cause barrier breakdown in the skin, not only in the epithelium, and stimulate various types of cells through IgE-independent mechanisms. Endogenous protease inhibitors control the functions of environmental and endogenous proteases. In this review, we focus on the barrier dysfunction caused by environmental proteases and roles of endogenous protease inhibitors in the pathogenesis of allergic diseases. Additionally, we examine the subsequent innate response to Th2-skewed adaptive immune reactions.

  7. An evaluation of weather and disease as causes of decline in two populations of boreal toads

    USGS Publications Warehouse

    Scherer, R. D.; Muths, E.; Noon, B.R.; Corn, P.S.

    2005-01-01

    Two populations of boreal toads (Bufo boreas) experienced drastic declines in abundance in the late 1990s. Evidence supported the hypothesis of disease (the chytrid fungus, Batrachochytrium dendrobatidis) as the cause of these declines, but other hypotheses had not been evaluated. We used an 11-year capture-recapture data set to evaluate weather and disease as causes of these declines. We developed sets of mathematical models that reflected hypothesized relationships between several weather variables and annual survival rates of adult males in these populations. In addition, models that reflected the possibility that the declines were caused by an introduced fungus were developed. All models were fit to the data and were evaluated using a model selection criterion (QAICc). Our analysis provided strong support for the hypothesis of an introduced fungus and little support for the hypothesis that weather conditions caused the declines. Our results also suggest a strong, negative 'marking effect' on survival rates of boreal toads. Model-averaged estimates of survival rate are presented.

  8. Chronic joint disease caused by persistent Chikungunya virus infection is controlled by the adaptive immune response.

    PubMed

    Hawman, David W; Stoermer, Kristina A; Montgomery, Stephanie A; Pal, Pankaj; Oko, Lauren; Diamond, Michael S; Morrison, Thomas E

    2013-12-01

    Chikungunya virus (CHIKV) is a reemerging mosquito-borne pathogen that causes incapacitating disease in humans characterized by intense joint pain that can persist for weeks, months, or even years. Although there is some evidence of persistent CHIKV infection in humans suffering from chronic rheumatologic disease symptoms, little is known about chronic disease pathogenesis, and no specific therapies exist for acute or chronic CHIKV disease. To investigate mechanisms of chronic CHIKV-induced disease, we utilized a mouse model and defined the duration of CHIKV infection in tissues and the associated histopathological changes. Although CHIKV RNA was readily detectable in a variety of tissues very early after infection, CHIKV RNA persisted specifically in joint-associated tissues for at least 16 weeks. Inoculation of Rag1(-/-) mice, which lack T and B cells, resulted in higher viral levels in a variety of tissues, suggesting that adaptive immunity controls the tissue specificity and persistence of CHIKV infection. The presence of CHIKV RNA in tissues of wild-type and Rag1(-/-) mice was associated with histopathological evidence of synovitis, arthritis, and tendonitis; thus, CHIKV-induced persistent arthritis is not mediated primarily by adaptive immune responses. Finally, we show that prophylactic administration of CHIKV-specific monoclonal antibodies prevented the establishment of CHIKV persistence, whereas therapeutic administration had tissue-specific efficacy. These findings suggest that chronic musculoskeletal tissue pathology is caused by persistent CHIKV infection and controlled by adaptive immune responses. Our results have significant implications for the development of strategies to mitigate the disease burden associated with CHIKV infection in humans.

  9. Pancreatitis in hand-foot-and-mouth disease caused by enterovirus 71

    PubMed Central

    Zhang, Yu-Feng; Deng, Hui-Ling; Fu, Jia; Zhang, Yu; Wei, Jian-Qiang

    2016-01-01

    Some viruses, including certain members of the enterovirus genus, have been reported to cause pancreatitis, especially Coxsackie virus. However, no case of human enterovirus 71 (EV71) associated with pancreatitis has been reported so far. We here report a case of EV71-induced hand-foot-and-mouth disease (HFMD) presenting with pancreatitis in a 2-year-old girl. This is the first report of a patient with acute pancreatitis in HFMD caused by EV71. We treated the patient conservatively with nasogastric suction, intravenous fluid and antivirals. The patient’s symptoms improved after 8 d, and recovered without complications. We conclude that EV71 can cause acute pancreatitis in HFMD, which should be considered in differential diagnosis, especially in cases of idiopathic pancreatitis. PMID:26877620

  10. COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis

    PubMed Central

    Watkin, Levi B.; Jessen, Birthe; Wiszniewski, Wojciech; Vece, Timothy; Jan, Max; Sha, Youbao; Thamsen, Maike; Santos-Cortez, Regie L. P.; Lee, Kwanghyuk; Gambin, Tomasz; Forbes, Lisa; Law, Christopher S.; Stray-Petersen, Asbjørg; Cheng, Mickie H.; Mace, Emily M.; Anderson, Mark S.; Liu, Dongfang; Tang, Ling Fung; Nicholas, Sarah K.; Nahmod, Karen; Makedonas, George; Canter, Debra; Kwok, Pui-Yan; Hicks, John; Jones, Kirk D.; Penney, Samantha; Jhangiani, Shalini N.; Rosenblum, Michael D.; Dell, Sharon D.; Waterfield, Michael R.; Papa, Feroz R.; Muzny, Donna M.; Zaitlen, Noah; Leal, Suzanne M.; Gonzaga-Jauregui, Claudia; Boerwinkle, Eric; Eissa, N. Tony; Gibbs, Richard A.; Lupski, James R.; Orange, Jordan S.; Shum, Anthony K.

    2015-01-01

    Advances in genomics have allowed unbiased genetic studies of human disease with unexpected insights into the molecular mechanisms of cellular immunity and autoimmunity1. We performed whole exome sequencing (WES) and targeted sequencing in patients with an apparent Mendelian syndrome of autoimmune disease characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease (ILD). In five families, we identified four unique deleterious variants in the Coatomer subunit alpha (COPA) gene all located within the same functional domain. We hypothesized that mutant COPA leads to a defect in intracellular transport mediated by coat protein complex I (COPI)2–4. We show that COPA variants impair binding of proteins targeted for retrograde Golgi to ER transport and demonstrate that expression of mutant COPA leads to ER stress and the upregulation of Th17 priming cytokines. Consistent with this pattern of cytokine expression, patients demonstrated a significant skewing of CD4+ T cells toward a T helper 17 (Th17) phenotype, an effector T cell population implicated in autoimmunity5,6. Our findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease. These findings provide a unique opportunity to understand how alterations in cellular homeostasis caused by a defect in the intracellular trafficking pathway leads to the generation of human autoimmune disease. PMID:25894502

  11. Non-Alcoholic Fatty Liver Disease: Cause or Effect of Metabolic Syndrome.

    PubMed

    Grander, Christoph; Grabherr, Felix; Moschen, Alexander R; Tilg, Herbert

    2016-10-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease throughout the world. Pathophysiological insights into this disease have recently illustrated that various factors such as insulin resistance, innate immunity, metabolic inflammation, and the microbiota are of relevance. NAFLD, metabolic syndrome (MS), and type 2 diabetes (T2D) share many pathophysiological aspects, and inflammatory processes in the adipose tissue, gut, and liver have evolved to be of exceptional importance. Most of NAFLD patients are obese and encounter a high risk of developing MS and T2D. NAFLD, however, is also highly common in subjects with MS and T2D. Furthermore, reflecting its nature of a multisystem disease, NAFLD is associated with a high prevalence and incidence of cardiovascular and chronic kidney disease. These facts require screening strategies for MS/T2D in NAFLD patients and vice versa. Thus, the question of cause or effect cannot be answered as MS and NAFLD share many pathomechanisms, and at the time of either diagnosis both frequently coexist. This is also reflected by a global prevalence rate of 25% for both NAFLD and MS. For this reason, it is crucial that physicians are aware of the 'unholy liaison' between MS, T2D, and NAFLD.

  12. Possibility of biological control of primocane fruiting raspberry disease caused by Fusarium sambucinum.

    PubMed

    Shternshis, Margarita V; Belyaev, Anatoly A; Matchenko, Nina S; Shpatova, Tatyana V; Lelyak, Anastasya A

    2015-10-01

    Biological control agents are a promising alternative to chemical pesticides for plant disease suppression. The main advantage of the natural biocontrol agents, such as antagonistic bacteria compared with chemicals, includes environmental pollution prevention and a decrease of chemical residues in fruits. This study is aimed to evaluate the impact of three Bacillus strains on disease of primocane fruiting raspberry canes caused by Fusarium sambucinum under controlled infection load and uncontrolled environmental factors. Bacillus subtilis, Bacillus licheniformis, and Bacillus amyloliquefaciens were used for biocontrol of plant disease in 2013 and 2014 which differed by environmental conditions. The test suspensions were 10(5) CFU/ml for each bacterial strain. To estimate the effect of biological agents on Fusarium disease, canes were cut at the end of vegetation, and the area of outer and internal lesions was measured. In addition to antagonistic effect, the strains revealed the ability to induce plant resistance comparable with chitosan-based formulation. Under variable ways of cane treatment by bacterial strains, the more effective were B. subtilis and B. licheniformis demonstrating dual biocontrol effect. However, environmental factors were shown to impact the strain biocontrol ability; changes in air temperature and humidity led to the enhanced activity of B. amyloliquefaciens. For the first time, the possibility of replacing chemicals with environmentally benign biological agents for ecologically safe control of the raspberry primocane fruiting disease was shown.

  13. Traffic air pollution and mortality from cardiovascular disease and all causes: a Danish cohort study

    PubMed Central

    2012-01-01

    Background Traffic air pollution has been linked to cardiovascular mortality, which might be due to co-exposure to road traffic noise. Further, personal and lifestyle characteristics might modify any association. Methods We followed up 52 061 participants in a Danish cohort for mortality in the nationwide Register of Causes of Death, from enrollment in 1993–1997 through 2009, and traced their residential addresses from 1971 onwards in the Central Population Registry. We used dispersion-modelled concentration of nitrogen dioxide (NO2) since 1971 as indicator of traffic air pollution and used Cox regression models to estimate mortality rate ratios (MRRs) with adjustment for potential confounders. Results Mean levels of NO2 at the residence since 1971 were significantly associated with mortality from cardiovascular disease (MRR, 1.26; 95% confidence interval [CI], 1.06–1.51, per doubling of NO2 concentration) and all causes (MRR, 1.13; 95% CI, 1.04–1.23, per doubling of NO2 concentration) after adjustment for potential confounders. For participants who ate < 200 g of fruit and vegetables per day, the MRR was 1.45 (95% CI, 1.13–1.87) for mortality from cardiovascular disease and 1.25 (95% CI, 1.11–1.42) for mortality from all causes. Conclusions Traffic air pollution is associated with mortality from cardiovascular diseases and all causes, after adjustment for traffic noise. The association was strongest for people with a low fruit and vegetable intake. PMID:22950554

  14. Human Respiratory Syncytial Virus Memphis 37 Causes Acute Respiratory Disease in Perinatal Lamb Lung

    PubMed Central

    van Geelen, Albert; Gallup, Jack M.; Kienzle, Thomas; Shelly, Daniel A.; Cihlar, Tomas; King, Robert R.; Ackermann, Mark R.

    2014-01-01

    Abstract Respiratory syncytial virus (RSV) is the leading cause of hospitalization due to respiratory illness among infants and young children of industrialized countries. There is a lack of understanding of the severe disease mechanisms as well as limited treatment options, none of which are fully satisfactory. This is partly due to lack of a relevant animal model of perinatal RSV infection that mimics moderate to severe disease in infants. We and others have shown mild disease in perinatal lambs with either a bovine or a human A2 strain of RSV. The Memphis 37 clinical strain of human RSV has been used to produce mild to moderate upper respiratory disease in healthy adult volunteers. We hypothesized that the Memphis 37 strain of RSV would infect perinatal lambs and produce clinical disease similar to that in human infants. Perinatal (3- to 5-day-old) lambs were inoculated intranasally with 2 mL/nostril of 1×105 focus-forming units (FFU)/mL (n=2) or 2.1×108 FFU/mL (n=3) of RSV Memphis 37. Clinical signs, gross and histological lesions, and immune and inflammatory responses were assessed. Memphis 37 caused moderate to severe gross and histologic lesions along with increased mRNA expression of macrophage inflammatory protein. Clinically, four of the five infected lambs had a mild to severe increase in expiratory effort. Intranasally administered RSV strain Memphis 37 infects neonatal lambs with gross, histologic, and immune responses similar to those observed in human infants. PMID:24804166

  15. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

    PubMed Central

    Topaloglu, A. K.; Ashley, G. A.; Tong, B.; Shabbeer, J.; Astrin, K. H.; Eng, C. M.; Desnick, R. J.

    1999-01-01

    BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations. MATERIALS AND METHODS: Genomic DNA was isolated from affected males and/or carrier females from 30 unrelated families with Fabry disease. The entire alpha-Gal A coding region and flanking intronic sequences were analyzed by PCR amplification and automated sequencing. RESULTS: Twenty new mutations were identified, each in a single family: C142R, G183D, S235C, W236L, D244H, P259L, M267I, I289F, Q321E, C378Y, C52X, W277X, IVS4(+4), IVS6(+2), IVS6(-1), 35del13, 256del1, 892ins1, 1176del4, and 1188del1. In the remaining 10 unrelated Fabry families, 9 previously reported mutations were detected: M42V, R112C, S148R, D165V, N215S (in 2 families), Q99X, C142X, R227X, and 1072del3. Haplotype analysis using markers closely flanking the alpha-Gal A gene indicated that the two patients with the N215S lesion were unrelated. The IVS4(+4) mutation was a rare intronic splice site mutation that causes Fabry disease. CONCLUSIONS: These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease.

  16. [Current aspects of invasive diseases caused by Candida and other yeast fungi].

    PubMed

    Pemán, Javier; Quindós, Guillermo

    2016-01-01

    Invasive candidiasis is the most common invasive fungal disease causing an unacceptably high mortality. Candida albicans remains the predominant origin, but an epidemiological shift has been described in the last decades. Some species of Candida have emerged as an important cause of severe candidaemia and can exhibit reduced susceptibility to the current antifungal agents. Candida parapsilosis has been associated with candidaemia in neonates and young adults, whereas Candida glabrata, Candida tropicalis, and Candida krusei are most frequently isolated in blood cultures from older patients (>65 years). Other yeasts are becoming important causes of invasive mycoses, such as Cryptococcus, Trichosporon, Malassezia, Geotrichum or Saprochaete/Magnusiomyces. Cryptococcosis is more relevant as a cause of meningitis in HIV-infected people, but cryptococcal infections are also a clinical challenge in transplant recipients. Diagnosis remains an important problem, causing unacceptable delays in starting a correct and direct treatment. However, there are some new approaches that can help in the prompt and specific diagnosis of invasive yeast infections, such as in situ hybridisation using PNA-FISH probes, causal agent identification in blood cultures using MALDi-TOF MS, or new and rapid nucleic acids detection assays.

  17. Influence of prior pregnancies on disease course and cause of death in systemic sclerosis

    PubMed Central

    Artlett, C; Rasheed, M; Russo-Stieglitz, K; Sawaya, H; Jimenez, S

    2002-01-01

    Background: Microchimerism from fetal or maternal cells transferred during pregnancy has been implicated in the pathogenesis of systemic sclerosis (SSc). Objective: To determine whether a prior pregnancy influenced disease progression and cause of death in patients with SSc. Patients and methods: The patients comprised a retrospective study cohort of 111 women with SSc: 78 patients with prior pregnancies (PP) and 33 who were never pregnant (NP), followed up at Thomas Jefferson University. Differences in age at onset, disease subset, organ involvement, cause of death, and type of antinuclear autoantibodies were evaluated statistically, including regression analysis. Results: The age at onset of SSc in NP patients was 32.0 years compared with 45.7 years in patients with one or two prior pregnancies (p<0.0001), 46.6 years in patients with three or four pregnancies (p<0.0001), and 51.3 years in patients with five to seven pregnancies (p<0.0005). In the 16 patients who had an elective pregnancy termination, 14/16 (87.5%) had diffuse SSc v 2/16 (12.5%) with limited SSc (p<0.0001; odds ratio (OR)=49.0). Of the NP women, 7/30 (23%) died from SSc related causes v 3/78 (4%) women who had pregnancies (p=0.0058; OR=7.6). A carbon monoxide transfer factor (TLCO) of <60% and disease duration >10 years was found in 10/13 (77%) NP patients v 10/23 (43%) patients who had pregnancies (p=0.05; OR=4.7), and a TLCO <50% and disease duration >10 years was identified in 7/13 (54%) NP patients v 6/23 (26%) of the patients who had pregnancies (p=0.09; OR=3.2). Conclusions: There are differences in the age at onset, clinical course, severity of lung involvement, and cause of death in women who develop SSc before pregnancy compared with those who develop it after pregnancies. The NP patients with SSc had onset of disease at an earlier age, more severe lung involvement, and higher rate of death due to SSc. PMID:11874839

  18. Structural consequences of amino acid substitutions causing Tay-Sachs disease.

    PubMed

    Ohno, Kazuki; Saito, Seiji; Sugawara, Kanako; Sakuraba, Hitoshi

    2008-08-01

    To determine the structural changes in the alpha-subunit of beta-hexosaminidase due to amino acid substitutions causing Tay-Sachs disease, we built structural models of mutant alpha-subunits resulting from 33 missense mutations (24 infantile and 9 late-onset), and analyzed the influence of each amino acid replacement on the structure by calculating the number of atoms affected and determining the solvent-accessible surface area of the corresponding amino acid residue in the wild-type alpha-subunit. In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was generally larger than that in the late-onset Tay-Sachs group in both the main chain and the side chain, and residues associated with the mutations found in the infantile Tay-Sachs group tended to be less solvent-accessible than those in the late-onset Tay-Sachs group. Furthermore, color imaging determined the distribution and degree of the structural changes caused by representative amino acid substitutions, and that there were also differences between the infantile and late-onset Tay-Sachs disease groups. Structural study is useful for elucidating the basis of Tay-Sachs disease.

  19. Profound Reversible Hypogammaglobulinemia Caused by Celiac Disease in the Absence of Protein Losing Enteropathy.

    PubMed

    Ameratunga, Rohan; Barker, Russell William; Steele, Richard Henderson; Deo, Maneka; Woon, See-Tarn; Yeong, Mee Ling; Koopmans, Wikke

    2015-08-01

    When patients with hypogammaglobulinemia are encountered, a vigorous search should be undertaken for secondary treatable causes. Here we describe the first case of a patient with severe asymptomatic hypogammaglobulinemia where the underlying cause was undiagnosed celiac disease. A strict gluten free diet resulted in resolution of her mild long-standing abdominal symptoms and correction of her hypogammaglobulinemia. There was corresponding improvement in her duodenal histology and normalisation of her celiac serology. Protein losing enteropathy was unlikely to have been the mechanism of her profound hypogammaglobulinemia, as her albumin was within the normal range and she had a normal fecal alpha 1 antitrypsin level. Application of the Ameratunga et al. (2013) diagnostic criteria was helpful in confirming this patient did not have Common Variable Immunodeficiency Disorder (CVID). Celiac disease must now be considered in the differential diagnosis of severe hypogammaglobulinemia. There should be a low threshold for undertaking celiac serology in patients with hypogammaglobulinemia, even if they have minimal symptoms attributable to gut disease.

  20. [Six cases of occupational skin diseases caused by cement: considerations from the aspect of occupational dermatology].

    PubMed

    Yamamoto, O; Nishio, D; Tokui, N

    2001-06-01

    Cement, in particular Portland cement, is now widely used in the field of civil engineering and the construction industry. High alkalinity of wet cement and its tiny content of water-soluble chromate can cause occupational skin diseases. In this paper, we report four cases of contact dermatitis by cement and two cases of cement burn. The occupation of the patients included two plasterers, a truck driver, a manufacturer of cement ware and two construction workers. Skin of the hands and fingers of the cement dermatitis cases was dry and fissured, and had hyperkeratotic papules and erythemas or acute exudative eczematous lesions. In one of these cases, the eczematous lesions spread to the face, extremities and trunk. All cases resulted in a positive patch testing for sodium dichromate. The cement burn cases developed severe necrotic ulcers on the leg and/or foot following prolonged contact with wet cement inside their boots. Patch testing was negative for chromate. A field trip to a construction worksite showed that method of working as well as worker's clothing at present could not thoroughly protect the skin. Therefore we concluded that better protective clothing and gloves should be used and that working conditions be improved. Most skin diseases caused by cement occur among workers at small-scale enterprises. Therefore it is desirable that regional occupational health centers, which were established to promote the health care system for workers at small-scale enterprises, take prompt measures to avoid the skin diseases.

  1. Hydatid Disease Involved in the Heart, Liver, and Kidney That Caused Sudden Death: Case Report.

    PubMed

    Daş, Taner; Özer, Mehmet; Yağmur, Gülhan; Yildirim, Muzaffer; Özgün, Ayşe; Demirel, Hüsrev

    2015-12-01

    Hydatid disease is a parasitic infestation caused by ingestion of eggs of echinococcal species. For Echinococcus granulosus, the definitive host is the dog, and sheeps are the usual intermediate hosts. Humans are accidental intermediate hosts, infected by ingestion of food contaminated with eggs shed by dogs or foxes. The most common organs that hydatid disease encountered are the liver and lungs. Involvement of the kidney is rare and usually accompanies the other organ involvements. Cardiac involvement of echinococcosis is also very rare. We report the case of a 31-year-old woman with a 6-year history of asthma who collapsed after strenuous activity and died despite the interventions carried out. At autopsy, cystic masses were detected in the apex of the heart, in the right kidney, and in the liver. There were no macroscopic pathologic findings in the other organs. Microscopic examination revealed the diagnosis of hydatid cyst in the heart, right kidney, and liver besides medial hypertrophy of the lung vessels. Cause of death was attributed to hydatid cyst and its complications. Patients who have symptoms akin to asthma at clinical presentation have to be further investigated for organic cardiac and pulmonary diseases such as hydatid cyst, especially in endemic countries.

  2. Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents

    PubMed Central

    Travis, Gabriel H.; Golczak, Marcin; Moise, Alexander R.; Palczewski, Krzysztof

    2008-01-01

    Absorption of a photon by an opsin pigment causes isomerization of the chromophore from 11-cis-retinaldehyde to all-trans-retinaldehyde. Regeneration of visual chromophore following light exposure is dependent on an enzyme pathway called the retinoid or visual cycle. Our understanding of this pathway has been greatly facilitated by the identification of disease-causing mutations in the genes coding for visual cycle enzymes. Defects in nearly every step of this pathway are responsible for human-inherited retinal dystrophies. These retinal dystrophies can be divided into two etiologic groups. One involves the impaired synthesis of visual chromophore. The second involves accumulation of cytotoxic products derived from all-trans-retinaldehyde. Gene therapy has been successfully used in animal models of these diseases to rescue the function of enzymes involved in chromophore regeneration, restoring vision. Dystrophies resulting from impaired chromophore synthesis can also be treated by supplementation with a chromophore analog. Dystrophies resulting from the accumulation of toxic pigments can be treated pharmacologically by inhibiting the visual cycle, or limiting the supply of vitamin A to the eyes. Recent progress in both areas provides hope that multiple inherited retinal diseases will soon be treated by pharmaceutical intervention. PMID:16968212

  3. Exome Sequencing Frequently Reveals the Cause of Early-Onset Chronic Kidney Disease

    PubMed Central

    Vivante, Asaf; Hildebrandt, Friedhelm

    2016-01-01

    The primary causes of chronic kidney disease (CKD) in children differ from those of adult onset CKD. In the United States the most common diagnostic groups of CKD that manifests before 25 years of age are: i) congenital anomalies of the kidneys and urinary tract (CAKUT) (49.1%), ii) steroid-resistant nephrotic syndrome (SRNS) (10.4%), iii) chronic glomerulonephritis (8.1%), and iv) renal cystic ciliopathies (5.3 %), encompassing >70% of CKD together. Recent findings suggest that early-onset CKD is caused by mutations in any one of over 200 different monogenic genes. High-throughput sequencing has very recently rendered identification of causative mutations in this high number of genes feasible. Molecular genetic diagnostics in early onset-CKD (before the age of 25 years) will, i) provide patients and families with a molecular genetic diagnosis, ii) generate new insights into diseases mechanisms, iii) allow etiology-based classification of patient cohorts for clinical studies and, iv) may have consequences for personalized treatment and prevention of CKD. In this review, we will discuss the implications of next-generation sequencing for clinical genetic diagnostics and discovery of novel genes in early-onset CKD. We also delineate the resulting opportunities for deciphering disease mechanisms and therapeutic implications. PMID:26750453

  4. Targeting intracellular degradation pathways for treatment of liver disease caused by α1-antitrypsin deficiency

    PubMed Central

    Wang, Yan; Perlmutter, David H.

    2014-01-01

    The classic form of α1-antitrypsin deficiency (ATD) is a well-known genetic cause of severe liver disease in childhood. A point mutation alters the folding of a hepatic secretory glycoprotein such that the protein is prone to misfolding and polymerization. Liver injury, characterized predominantly by fibrosis/cirrhosis and carcinogenesis, is caused by the proteotoxic effect of polymerized mutant α1-antitrypsin Z (ATZ), which accumulates in the endoplasmic reticulum (ER) of hepatocytes. Several intracellular pathways have been shown to be responsible for disposal of ATZ after it accumulates in the ER, but autophagy appears to be specialized for disposal of insoluble ATZ polymers. Recently, we have found that drugs that enhance the activity of the autophagic pathway reduce the cellular load of mutant ATZ and reverse hepatic fibrosis in a mouse model of ATD. Because several of these autophagy enhancers have been used safely in humans for other reasons, we have been able to initiate a clinical trial of one of these drugs, carbamazepine, to determine its efficacy in severe liver disease due to ATD. In this review, we discuss the autophagy enhancer drugs as a new therapeutic strategy that targets cell biological mechanisms integral to the pathogenesis of liver disease due to ATD. PMID:24226634

  5. Beyond Guam: the cyanobacteria/BMAA hypothesis of the cause of ALS and other neurodegenerative diseases.

    PubMed

    Bradley, Walter G; Mash, Deborah C

    2009-01-01

    Excitement about neurogenetics in the last two decades has diverted attention from environmental causes of sporadic ALS. Fifty years ago endemic foci of ALS with a frequency one hundred times that in the rest of the world attracted attention since they offered the possibility of finding the cause for non-endemic ALS throughout the world. Research on Guam suggested that ALS, Parkinson's disease and dementia (the ALS/PDC complex) was due to a neurotoxic non-protein amino acid, beta-methylamino-L-alanine (BMAA), in the seeds of the cycad Cycas micronesica. Recent discoveries that found that BMAA is produced by symbiotic cyanobacteria within specialized roots of the cycads; that the concentration of protein-bound BMAA is up to a hundred-fold greater than free BMAA in the seeds and flour; that various animals forage on the seeds (flying foxes, pigs, deer), leading to biomagnification up the food chain in Guam; and that protein-bound BMAA occurs in the brains of Guamanians dying of ALS/PDC (average concentration 627 microg/g, 5 mM) but not in control brains have rekindled interest in BMAA as a possible trigger for Guamanian ALS/PDC. Perhaps most intriguing is the finding that BMAA is present in brain tissues of North American patients who had died of Alzheimer's disease (average concentration 95 microg/g, 0.8mM); this suggests a possible etiological role for BMAA in non-Guamanian neurodegenerative diseases. Cyanobacteria are ubiquitous throughout the world, so it is possible that all humans are exposed to low amounts of cyanobacterial BMAA, that protein-bound BMAA in human brains is a reservoir for chronic neurotoxicity, and that cyanobacterial BMAA is a major cause of progressive neurodegenerative diseases including ALS worldwide. Though Montine et al., using different HPLC method and assay techniques from those used by Cox and colleagues, were unable to reproduce the findings of Murch et al., Mash and colleagues using the original techniques of Murch et al. have

  6. Genotyping Escherichia coli O157:H7 for its ability to cause disease in humans.

    PubMed

    Bono, James L

    2009-08-01

    Escherichia coli are ubiquitous in the world, and for the most part are non-pathogenic and part of the normal lower gastrointestinal tract in mammals. However, some pathogenic isolates can cause severe disease that range from meningitis to hemorrhagic colitis (HC). In recent years, Shiga toxin-containing E. coli (STEC) have been a major cause of food borne and environmental cases of HC and hemolytic uremic syndrome. One STEC serotype, O157:H7, has been responsible for numerous food-associated outbreaks and recalls worldwide. The protocols in this unit will allow the reader to use real-time polymerase chain reaction genotyping to identify isolates that are more likely to cause disease in humans. The genotyping assay targets a single-nucleotide polymorphism (SNP) in the tir gene. The tir gene is located in a virulence operon called the locus for enterocyte effacement and functions as a receptor for the tight adherence of E. coli O157:H7 to epithelial cells. As more genomes are sequenced, informative SNPs that associate with phenotypes will be identified. Identifying isolates not only by their genus and species, but also by using other informative genomic traits will increase the general knowledge about their genetic diversity.

  7. Using SNP genetic markers to elucidate the linkage of the Co-34/Phg-3 anthracnose and angular leaf spot resistance gene cluster with the Ur-14 resistance gene

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Ouro Negro common bean cultivar contains the Co-34/Phg-3 gene cluster that confers resistance to the anthracnose (ANT) and angular leaf spot (ALS) pathogens. These genes are tightly linked on chromosome 4. Ouro Negro also has the Ur-14 rust resistance gene, reportedly in the vicinity of Co- 34; ...

  8. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

    PubMed

    Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J; García-Romero, Mar; Pascual-Pascual, Samuel I; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J; Palau, Francesc; Espinós, Carmen

    2016-01-01

    new pathogenic mechanism to the long list of causes of Charcot-Marie-Tooth disease.

  9. Agrarian diet and diseases of affluence – Do evolutionary novel dietary lectins cause leptin resistance?

    PubMed Central

    Jönsson, Tommy; Olsson, Stefan; Ahrén, Bo; Bøg-Hansen, Thorkild C; Dole, Anita; Lindeberg, Staffan

    2005-01-01

    Background The global pattern of varying prevalence of diseases of affluence, such as obesity, cardiovascular disease and diabetes, suggests that some environmental factor specific to agrarian societies could initiate these diseases. Presentation of the hypothesis We propose that a cereal-based diet could be such an environmental factor. Through previous studies in archaeology and molecular evolution we conclude that humans and the human leptin system are not specifically adapted to a cereal-based diet, and that leptin resistance associated with diseases of affluence could be a sign of insufficient adaptation to such a diet. We further propose lectins as a cereal constituent with sufficient properties to cause leptin resistance, either through effects on metabolism central to the proper functions of the leptin system, and/or directly through binding to human leptin or human leptin receptor, thereby affecting the function. Testing the hypothesis Dietary interventions should compare effects of agrarian and non-agrarian diets on incidence of diseases of affluence, related risk factors and leptin resistance. A non-significant (p = 0.10) increase of cardiovascular mortality was noted in patients advised to eat more whole-grain cereals. Our lab conducted a study on 24 domestic pigs in which a cereal-free hunter-gatherer diet promoted significantly higher insulin sensitivity, lower diastolic blood pressure and lower C-reactive protein as compared to a cereal-based swine feed. Testing should also evaluate the effects of grass lectins on the leptin system in vivo by diet interventions, and in vitro in various leptin and leptin receptor models. Our group currently conducts such studies. Implications of the hypothesis If an agrarian diet initiates diseases of affluence it should be possible to identify the responsible constituents and modify or remove them so as to make an agrarian diet healthier. PMID:16336696

  10. Estimating the global burden of thalassogenic diseases: human infectious diseases caused by wastewater pollution of the marine environment.

    PubMed

    Shuval, Hillel

    2003-06-01

    This paper presents a preliminary attempt at obtaining an order-of-magnitude estimate of the global burden of disease (GBD) of human infectious diseases associated with swimming/bathing in coastal waters polluted by wastewater, and eating raw or lightly steamed filter-feeding shellfish harvested from such waters. Such diseases will be termed thalassogenic--caused by the sea. Until recently these human health effects have been viewed primarily as local phenomena, not generally included in the world agenda of marine scientists dealing with global marine pollution problems. The massive global scale of the problem can be visualized when one considers that the wastewater and human body wastes of a significant portion of the world's population who reside along the coastline or in the vicinity of the sea are discharged daily, directly or indirectly, into the marine coastal waters, much of it with little or no treatment. Every cubic metre of raw domestic wastewater discharged into the sea can carry millions of infectious doses of pathogenic microorganisms. It is estimated that globally, foreign and local tourists together spend some 2 billion man-days annually at coastal recreational resorts and many are often exposed there to coastal waters polluted by wastewater. Annually some 800 million meals of potentially contaminated filter-feeding shellfish/bivalves and other sea foods, harvested in polluted waters are consumed, much of it raw or lightly steamed. A number of scientific studies have shown that swimmers swallow significant amounts of polluted seawater and can become ill with gastrointestinal and respiratory diseases from the pathogens they ingest. Based on risk assessments from the World Health Organization (WHO) and academic research sources the present study has made an estimate that globally, each year, there are in excess of 120 million cases of gastrointestinal disease and in excess of 50 million cases of more severe respiratory diseases caused by swimming and

  11. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

    PubMed Central

    Johnson, Janel O.; Gibbs, J. Raphael; Megarbane, Andre; Urtizberea, J. Andoni; Hernandez, Dena G.; Foley, A. Reghan; Arepalli, Sampath; Pandraud, Amelie; Simón-Sánchez, Javier; Clayton, Peter; Reilly, Mary M.; Muntoni, Francesco; Abramzon, Yevgeniya; Houlden, Henry

    2012-01-01

    Brown–Vialetto–Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transporter genes, have recently been shown to underlie a number of severe cases of Brown–Vialetto–Van Laere syndrome; however, cases and families with this disease exist that do not appear to be caused by SLC52A3 mutations. We used a combination of linkage and exome sequencing to identify the disease causing mutation in an extended Lebanese Brown–Vialetto–Van Laere kindred, whose affected members were negative for SLC52A3 mutations. We identified a novel mutation in a second member of the riboflavin transporter gene family (gene symbol: SLC52A2) as the cause of disease in this family. The same mutation was identified in one additional subject, from 44 screened. Within this group of 44 patients, we also identified two additional cases with SLC52A3 mutations, but none with mutations in the remaining member of this gene family, SLC52A1. We believe this strongly supports the notion that defective riboflavin transport plays an important role in Brown–Vialetto–Van Laere syndrome. Initial work has indicated that patients with SLC52A3 defects respond to riboflavin treatment clinically and biochemically. Clearly, this makes an excellent candidate therapy for the SLC52A2 mutation-positive patients identified here. Initial riboflavin treatment of one of these patients shows promising results. PMID:22740598

  12. Orf Disease Following “Eid ul-Adha”: A Rare Cause of Erythema Multiforme

    PubMed Central

    Shahmoradi, Zabihollah; Abtahi-Naeini, Bahareh; Pourazizi, Mohsen; Meidani, Mohsen

    2014-01-01

    Orf, also known as contagious pustular dermatitis, is an exanthemous disease caused by a parapox virus. It is usually a benign locally self-limiting illness; it can have systemic complication or progressive infected locations can include the finger, hand, arm, and face. Development of erythema multiforme following Orf infection is very rare. In Islamic populations such as those of Iran, Orf can be observed in individuals who are not occupationally involved, but may be in contact with sheep or goats after the Islamic worship as an “Eid ul-Adha.” Here we report an erythema multiforme associated with multiple lesion of Orf disease following the “Eid ul-Adha” in Iranian housewives. PMID:25105005

  13. Eosinophilic meningitis caused by Angiostrongylus cantonensis: an emergent disease in Brazil

    PubMed Central

    Morassutti, Alessandra Loureiro; Thiengo, Silvana Carvalho; Fernandez, Monica; Sawanyawisuth, Kittisak; Graeff-Teixeira, Carlos

    2014-01-01

    Eosinophilic meningitis (EoM) is an acute disease that affects the central nervous system. It is primarily caused by infection with the nematode Angiostrongylus cantonensis. This infection was previously restricted to certain Asian countries and the Pacific Islands, but it was first reported in Brazil in 2007. Since then, intermediate and definitive hosts infected with A. cantonensis have been identified within the urban areas of many states in Brazil, including those in the northern, northeastern, southeastern and southern regions. The goals of this review are to draw the attention of the medical community and health centres to the emergence of EoM in Brazil, to compile information about several aspects of the human infection and mode of transmission and to provide a short protocol of procedures for the diagnosis of this disease. PMID:25075779

  14. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

    PubMed

    Paisán-Ruíz, Coro; Jain, Shushant; Evans, E Whitney; Gilks, William P; Simón, Javier; van der Brug, Marcel; López de Munain, Adolfo; Aparicio, Silvia; Gil, Angel Martínez; Khan, Naheed; Johnson, Janel; Martinez, Javier Ruiz; Nicholl, David; Carrera, Itxaso Marti; Pena, Amets Saénz; de Silva, Rohan; Lees, Andrew; Martí-Massó, José Félix; Pérez-Tur, Jordi; Wood, Nick W; Singleton, Andrew B

    2004-11-18

    Parkinson's disease (PD; OMIM #168600) is the second most common neurodegenerative disorder in the Western world and presents as a progressive movement disorder. The hallmark pathological features of PD are loss of dopaminergic neurons from the substantia nigra and neuronal intracellular Lewy body inclusions. Parkinsonism is typically sporadic in nature; however, several rare familial forms are linked to genetic loci, and the identification of causal mutations has provided insight into the disease process. PARK8, identified in 2002 by Funayama and colleagues, appears to be a common cause of familial PD. We describe here the cloning of a novel gene that contains missense mutations segregating with PARK8-linked PD in five families from England and Spain. Because of the tremor observed in PD and because a number of the families are of Basque descent, we have named this protein dardarin, derived from the Basque word dardara, meaning tremor.

  15. [Oxidative stress: one of the major causes of vascular calcification in chronic kidney disease patients].

    PubMed

    Nyitrai, Mónika; Balla, György; Balla, József

    2015-11-22

    The leading cause of high mortality in dialyzed patients is cardiovascular disease. One of the main contributors of cardiovascular event is vascular calcification, which occurs even in very young patients. Multiple factors and complex mechanisms are involved in the formation of robust vascular calcification which affects a large vascular area observed in chronic kidney diseases. Patients on dialysis are exposed to enhanced oxidative stress as a result of increased pro-oxidant activity and reduced anti-oxidant systems. The oxidation of lipoprotein particles is implicated in the development of vascular damage representing oxidative threat, which leads to endothelial dysfunction. Moreover, in a pro-oxidant environment osteoblastic trans-differentiation of smooth muscle cells was shown to occur. Heme derived from oxidized hemoglobin might contribute to the formation of reactive lipid metabolites. This oxidative burden contributes to the development of atherosclerosis and vascular calcification. Heme oxygenase-1 and ferritin may serve as intracellular defense mechanisms against such an insult.

  16. Recent Trends in Control Methods for Bacterial Wilt Diseases Caused by Ralstonia solanacearum

    PubMed Central

    Yuliar; Nion, Yanetri Asi; Toyota, Koki

    2015-01-01

    Previous studies have described the development of control methods against bacterial wilt diseases caused by Ralstonia solanacearum. This review focused on recent advances in control measures, such as biological, physical, chemical, cultural, and integral measures, as well as biocontrol efficacy and suppression mechanisms. Biological control agents (BCAs) have been dominated by bacteria (90%) and fungi (10%). Avirulent strains of R. solanacearum, Pseudomonas spp., Bacillus spp., and Streptomyces spp. are well-known BCAs. New or uncommon BCAs have also been identified such as Acinetobacter sp., Burkholderia sp., and Paenibacillus sp. Inoculation methods for BCAs affect biocontrol efficacy, such as pouring or drenching soil, dipping of roots, and seed coatings. The amendment of different organic matter, such as plant residue, animal waste, and simple organic compounds, have frequently been reported to suppress bacterial wilt diseases. The combined application of BCAs and their substrates was shown to more effectively suppress bacterial wilt in the tomato. Suppression mechanisms are typically attributed to the antibacterial metabolites produced by BCAs or those present in natural products; however, the number of studies related to host resistance to the pathogen is increasing. Enhanced/modified soil microbial communities are also indirectly involved in disease suppression. New promising types of control measures include biological soil disinfection using substrates that release volatile compounds. This review described recent advances in different control measures. We focused on the importance of integrated pest management (IPM) for bacterial wilt diseases. PMID:25762345

  17. Recent trends in control methods for bacterial wilt diseases caused by Ralstonia solanacearum.

    PubMed

    Yuliar; Nion, Yanetri Asi; Toyota, Koki

    2015-01-01

    Previous studies have described the development of control methods against bacterial wilt diseases caused by Ralstonia solanacearum. This review focused on recent advances in control measures, such as biological, physical, chemical, cultural, and integral measures, as well as biocontrol efficacy and suppression mechanisms. Biological control agents (BCAs) have been dominated by bacteria (90%) and fungi (10%). Avirulent strains of R. solanacearum, Pseudomonas spp., Bacillus spp., and Streptomyces spp. are well-known BCAs. New or uncommon BCAs have also been identified such as Acinetobacter sp., Burkholderia sp., and Paenibacillus sp. Inoculation methods for BCAs affect biocontrol efficacy, such as pouring or drenching soil, dipping of roots, and seed coatings. The amendment of different organic matter, such as plant residue, animal waste, and simple organic compounds, have frequently been reported to suppress bacterial wilt diseases. The combined application of BCAs and their substrates was shown to more effectively suppress bacterial wilt in the tomato. Suppression mechanisms are typically attributed to the antibacterial metabolites produced by BCAs or those present in natural products; however, the number of studies related to host resistance to the pathogen is increasing. Enhanced/modified soil microbial communities are also indirectly involved in disease suppression. New promising types of control measures include biological soil disinfection using substrates that release volatile compounds. This review described recent advances in different control measures. We focused on the importance of integrated pest management (IPM) for bacterial wilt diseases.

  18. Mycobacterium avium subspecies paratuberculosis in the etiology of Crohn's disease, cause or epiphenomenon?

    PubMed

    Liverani, Elisa; Scaioli, Eleonora; Cardamone, Carla; Dal Monte, Paola; Belluzzi, Andrea

    2014-09-28

    The origin of inflammatory bowel disease is unknown. Attempts have been made to isolate a microorganism that could explain the onset of inflammation, but no pathological agent has ever been identified. Johne's disease is a granulomatous chronic enteritis of cattle and sheep caused by Mycobacterium avium subspecies paratuberculosis (MAP) and shows some analogies with Crohn's disease (CD). Several studies have tried to clarify if MAP has a role in the etiology of CD. The present article provides an overview of the evidence in favor and against the "MAP-hypothesis", analyzing the methods commonly adopted to detect MAP and the role of antimycobacterial therapy in patients with inflammatory bowel disease. Studies were identified through the electronic database, MEDLINE, and were selected based on their relevance to the objective of the review. The presence of MAP was investigated using multiple diagnostic methods for MAP detection and in different tissue samples from patients affected by CD or ulcerative colitis and in healthy controls. On the basis of their studies, several authors support a close relationship between MAP and CD. Although increasing evidence of MAP detection in CD patients is unquestionable, a clear etiological link still needs to be proven.

  19. Shining Light on the Cause of Alzheimer's Disease (411th Brookhaven Lecture)

    SciTech Connect

    Miller, Lisa

    2006-01-18

    Alzheimer’s disease is a progressive brain disorder that gradually destroys a person’s memory and ability to learn, reason, communicate and carry out daily activities. An estimated 4.5 million Americans have it, a number that is expected to triple over the next 50 years. Today, one in ten people aged 65 and half of people over 85 are affected. The cause of Alzheimer’s disease is thought to involve the formation of “plaques” — tiny aggregates of a naturally occurring, but misfolded or misshapen protein — in the brain. Recently, the formation of these plaques has been associated with the binding of metal ions such as iron, copper, and zinc. Yet the function of these metal ions and the misfolded proteins in the disease process is not well understood. Now, synchrotron infrared and x-ray microscopes are used to image the protein structure and metal content in the Alzheimer’s-affected brain tissue, providing a better understanding of how the disease occurs and potential ways of preventing it in the future.

  20. Mycobacterium avium subspecies paratuberculosis in the etiology of Crohn’s disease, cause or epiphenomenon?

    PubMed Central

    Liverani, Elisa; Scaioli, Eleonora; Cardamone, Carla; Dal Monte, Paola; Belluzzi, Andrea

    2014-01-01

    The origin of inflammatory bowel disease is unknown. Attempts have been made to isolate a microorganism that could explain the onset of inflammation, but no pathological agent has ever been identified. Johne’s disease is a granulomatous chronic enteritis of cattle and sheep caused by Mycobacterium avium subspecies paratuberculosis (MAP) and shows some analogies with Crohn’s disease (CD). Several studies have tried to clarify if MAP has a role in the etiology of CD. The present article provides an overview of the evidence in favor and against the “MAP-hypothesis”, analyzing the methods commonly adopted to detect MAP and the role of antimycobacterial therapy in patients with inflammatory bowel disease. Studies were identified through the electronic database, MEDLINE, and were selected based on their relevance to the objective of the review. The presence of MAP was investigated using multiple diagnostic methods for MAP detection and in different tissue samples from patients affected by CD or ulcerative colitis and in healthy controls. On the basis of their studies, several authors support a close relationship between MAP and CD. Although increasing evidence of MAP detection in CD patients is unquestionable, a clear etiological link still needs to be proven. PMID:25278700

  1. Managing scab diseases of potato and radish caused by Streptomyces spp. using Bacillus amyloliquefaciens BAC03 and other biomaterials

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Streptomyces spp. cause scab disease in plants like potato and radish. To seek effective control methods of this disease, biologically based materials were examined on their efficacies for disease control. In greenhouse or growth chamber tests, potting soil was infested with Streptomyces scabies (10...

  2. Newcastle disease viruses causing recent outbreaks worldwide show unexpectedly high genetic similarity with historical virulent isolates from the 1940s

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Virulent strains of Newcastle disease virus (NDV) cause Newcastle disease (ND), a devastating disease of poultry and wild birds. Phylogenetic analyses clearly distinguish historical isolates (obtained prior to 1960) from currently circulating viruses of class II genotypes V, VI, VII, and XII throug...

  3. Two whole genome sequences of Xylella fastidiosa (strains M12 and M23) causing almond leaf scorch disease in California

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Xylella fastidiosa is a Gram negative, nutritionally fastidious plant pathogenic bacterium that causes many economically important diseases including almond leaf scorch disease (ALSD) and Pierce’s disease of grape in California, as well as citrus variegated chlorosis in South America. Genome inform...

  4. Identification and Chacterization of new strains of Enterobacter spp. causing Mulberry (Morus alba) wilt disease in China

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A new mulberry wilt disease (MWD) was recently identified in Hangzhou, Zhejiang province, China. Typical symptoms of the disease are dark brown discolorations in vascular tissues, leaf wilt, defoliation, and tree decline. Unlike the bacterial wilt disease caused by Ralstonia solanacearum, the leaf w...

  5. Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

    PubMed

    Wada, T; Matsuda, Y; Muraoka, M; Toma, T; Takehara, K; Fujimoto, M; Yachie, A

    2014-10-01

    Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression. Several genes including C6orf15, PSORS1C1, PSORS1C2, CCHCR1, and TCF19 were also deleted, however, the patient showed only clinical features typical of PSD. The deletion size was 59.1 kb. Analysis of the sequence surrounding the breakpoint showed that both telomeric and centromeric breakpoints existed within Alu-S sequences that were oriented in opposite directions. These results suggest an Alu-mediated recombination event as the mechanism underlying the deletion in our patient.

  6. Is Chronic Obstructive Pulmonary Disease Caused by Wood Smoke a Different Phenotype or a Different Entity?

    PubMed

    Torres-Duque, Carlos A; García-Rodriguez, María Carmen; González-García, Mauricio

    2016-08-01

    Around 40% of the world's population continue using solid fuel, including wood, for cooking or heating their homes. Chronic exposure to wood smoke is a risk factor for developing chronic obstructive pulmonary disease (COPD). In some regions of the world, this can be a more important cause of COPD than exposure to tobacco smoke from cigarettes. Significant differences between COPD associated with wood smoke (W-COPD) and that caused by smoking (S-COPD) have led some authors to suggest that W-COPD should be considered a new COPD phenotype. We present a review of the differences between W-COPD and S-COPD. On the premise that wood smoke and tobacco smoke are not the same and the physiopathological mechanisms they induce may differ, we have analyzed whether W-COPD can be considered as another COPD phenotype or a distinct nosological entity.

  7. A novel Enterovirus 96 circulating in China causes hand, foot, and mouth disease.

    PubMed

    Xu, Yi; Sun, Yisuo; Ma, Jinmin; Zhou, Shuru; Fang, Wei; Ye, Jiawei; Tan, Limei; Ji, Jingkai; Luo, Dan; Li, Liqiang; Li, Jiandong; Fang, Chunxiao; Pei, Na; Shi, Shuo; Liu, Xin; Jiang, Hui; Gong, Sitang; Xu, Xun

    2017-02-07

    Enterovirus 96 (EV-96) is a recently described member of the species Enterovirus C and is associated with paralysis and myelitis. In this study, using metagenomic sequencing, we identified a new enterovirus 96 strain (EV-96-SZ/GD/CHN/2014) as the sole pathogen causing hand, foot, and mouth disease (HFMD). A genomic comparison showed that EV-96-SZ/GD/CHN/2014 is most similar to the EV-96-05517 strain (85% identity), which has also been detected in Guangdong Province. This is the first time that metagenomic sequencing has been used to identify an EV-96 strain shown to be associated with HFMD.

  8. Deletion of the meq gene significantly decreases immunosuppression in chickens caused by pathogenic marek's disease virus

    PubMed Central

    2011-01-01

    Background Marek's disease virus (MDV) causes an acute lymphoproliferative disease in chickens, resulting in immunosuppression, which is considered to be an integral aspect of the pathogenesis of Marek's disease (MD). A recent study showed that deletion of the Meq gene resulted in loss of transformation of T-cells in chickens and a Meq-null virus, rMd5ΔMeq, could provide protection superior to CVI988/Rispens. Results In the present study, to investigate whether the Meq-null virus could be a safe vaccine candidate, we constructed a Meq deletion strain, GX0101ΔMeq, by deleting both copies of the Meq gene from a pathogenic MDV, GX0101 strain, which was isolated in China. Pathogenesis experiments showed that the GX0101ΔMeq virus was fully attenuated in specific pathogen-free chickens because none of the infected chickens developed Marek's disease-associated lymphomas. The study also evaluated the effects of GX0101ΔMeq on the immune system in chickens after infection with GX0101ΔMeq virus. Immune system variables, including relative lymphoid organ weight, blood lymphocytes and antibody production following vaccination against AIV and NDV were used to assess the immune status of chickens. Experimental infection with GX0101ΔMeq showed that deletion of the Meq gene significantly decreased immunosuppression in chickens caused by pathogenic MDV. Conclusion These findings suggested that the Meq gene played an important role not only in tumor formation but also in inducing immunosuppressive effects in MDV-infected chickens. PMID:21205328

  9. [Detection of human papillomaviruses and other agents causing sexually transmitted diseases with molecular diagnosis methods].

    PubMed

    Grce, Magdalena; Husnjak, Koraljka; Milutin, Nina; Matovina, Mihaela

    2003-01-01

    Causative agents of sexually transmitted diseases (STD) are different types of bacteria, viruses, fungi and protozoa. The last two decades of the twentieth century were marked with a sudden rise in the number of cases of STDs. Human immunodeficiency virus (HIV), which emerged in the 1980s, is the most prominent STD agent because of its fast spread and severity of the disease it causes, acquired immunodeficiency syndrome (AIDS). Beside HIV, human papillomaviruses (HPVs), herpes simplex viruses (HSVs) and Chlamydia trachomatis are nowadays among most health-threatening STD pathogens. In order to stop the spread of infection, apart from education about precautions, early detection of the disease is essential. Although most STD pathogens can be detected by classical methods of cultivation, biochemical and/or serologic methods, molecular diagnosis of infectious diseases has largely simplified and accelerated their detection. For instance, HPVs that cause benign and malignant tumors of genital skin and mucosa cannot be routinely detected on cell culture, whereas serologic analysis is not sensitive and informative enough. Moreover, cytologic (Pap smear) and histologic analyses can indicate changes associated with HPV infection, but neither of these methods can prove the presence of HPV. That is why the molecular methods are essential to demonstrate the presence of the infection and, even more important, to determine the type of the virus, which is associated either with low-grade or high-grade genital lesions. There are numerous methods based on hybridization with DNA or RNA probes, some of them are suitable for detecting wide range of types and screening of large collection of samples. However, the most sensitive and informative methods are based on polymerase chain reaction (PCR), and they have the advantage of being able to determine the type of the virus and distinguishing between multiple infections. Herein, we present when and why molecular analysis is useful and

  10. Eosinophilic meningitis caused by Angiostrongylus cantonensis--a neglected disease with escalating importance.

    PubMed

    Eamsobhana, P

    2014-12-01

    The rat lungworm Angiostrongylus cantonensis, a food-borne zoonotic parasite, has been recognized as the primary pathogen associated with human eosinophilic meningitis or eosinophilic meningoencephalitis. This neurotropic nematode has a definitive rodent host and a molluscan intermediate host. The adult worms live in the pulmonary arteries of rats. Human is a non-permissive, accidental host. Transmission to humans is by eating of infected raw or undercooked snails, poorly cleaned contaminated vegetables or other infected paratenic hosts such as freshwater prawns, crabs, frogs or monitor lizards. Thousands of diagnosed cases of eosinophilic meningitis caused by A. cantonensis have been reported worldwide. Angiostrongyliasis is of increasing public health importance as globalization contributes to the geographical spread and more international travelers encounter the disease. The parasite is on the move. It has spread from its traditional endemic areas of Asia and the Pacific Basin to the American continent including the USA, Brazil and Caribbean islands. Recently, the incidence of human infections has increased rapidly. Most reports of the disease are from Thailand and Taiwan with increasing reports from mainland China. The rapid global spread of the parasite and the emerging occurrence of the infection pose challenges in clinical and laboratory diagnosis, and in epidemiology and basic biology. Enhanced understanding of the epidemiology of angiostrongyliasis, increased public awareness about the risks associated with eating raw or undercooked food, and enhanced food safety measures are needed. Therefore, current knowledge on various aspects of the parasite and the disease it causes, as well as recent epidemiological status together with significant progress in laboratory investigation of A. cantonensis infection, are overviewed to promote understanding and awareness of this emerging neglected disease.

  11. Dairy Food Intake and All-Cause, Cardiovascular Disease, and Cancer Mortality: The Golestan Cohort Study.

    PubMed

    Farvid, Maryam S; Malekshah, Akbar F; Pourshams, Akram; Poustchi, Hossein; Sepanlou, Sadaf G; Sharafkhah, Maryam; Khoshnia, Masoud; Farvid, Mojtaba; Abnet, Christian C; Kamangar, Farin; Dawsey, Sanford M; Brennan, Paul; Pharoah, Paul D; Boffetta, Paolo; Willett, Walter C; Malekzadeh, Reza

    2017-03-29

    We investigated the association between dairy product consumption and all-cause, cardiovascular disease (CVD), and cancer mortality in the Golestan Cohort Study, a prospective cohort study launched in January 2004 in Golestan Province, northeastern Iran. A total of 42,403 men and women participated in the study and completed a diet questionnaire at enrollment. Cox proportional hazards models were used to estimate hazard ratios and 95% confidence intervals. We documented 3,291 deaths (1,467 from CVD and 859 from cancer) during 11 years of follow-up (2004-2015). The highest quintile of total dairy product consumption (versus the lowest) was associated with 19% lower all-cause mortality risk (hazard ratio (HR) = 0.81, 95% confidence interval (CI): 0.72, 0.91; Ptrend = 0.006) and 28% lower CVD mortality risk (HR = 0.72, 95% CI: 0.60, 0.86; Ptrend = 0.005). High consumption of low-fat dairy food was associated with lower risk of all-cause (HR = 0.83, 95% CI: 0.73, 0.94; Ptrend = 0.002) and CVD (HR = 0.74, 95% CI: 0.61, 0.89; Ptrend = 0.001) mortality. We noted 11% lower all-cause mortality and 16% lower CVD mortality risk with high yogurt intake. Cheese intake was associated with 16% lower all-cause mortality and 26% lower CVD mortality risk. Higher intake of high-fat dairy food and milk was not associated with all-cause or CVD mortality. Neither intake of individual dairy products nor intake of total dairy products was significantly associated with overall cancer mortality. High consumption of dairy products, especially yogurt and cheese, may reduce the risk of overall and CVD mortality.

  12. Association of TSH Elevation with All-Cause Mortality in Elderly Patients with Chronic Kidney Disease

    PubMed Central

    Chuang, Mei-hsing; Liao, Kuo-Meng; Hung, Yao-Min; Chou, Yi-Chang; Chou, Pesus

    2017-01-01

    Chronic kidney disease (CKD) is a widespread condition in the global population and is more common in the elderly. Thyroid-stimulating hormone (TSH) level increases with aging, and hypothyroidism is highly prevalent in CKD patients. However, the relationship between low thyroid function and mortality in CKD patients is unclear. Therefore, we conducted a retrospective cohort study to examine the relationship between TSH elevation and all-cause mortality in elderly patients with CKD. This retrospective cohort study included individuals ≥65 years old with CKD (n = 23,786) in Taipei City. Health examination data from 2005 to 2010 were provided by the Taipei Databank for Public Health Analysis. Subjects were categorized according to thyroid-stimulating hormone (TSH) level as follows: low normal (0.34disease (coronary artery disease, congestive heart failure, cerebral vascular disease), history of cancer, and history of chronic obstructive pulmonary disease. Our results showed that compared to the reference group (middle normal TSH), the risk of all-cause mortality was increased in the elevated I group (hazard ratio [HR], 1.21; 95% confidence interval [CI], 1.02–1.45) and elevated II group (HR, 1.30; 95% CI, 1.00–1.69). We found a significant association between TSH elevation and all-cause mortality in this cohort of elderly persons with CKD. However, determining the benefit of treatment for moderately elevated TSH level (5.2–10 mIU/L) in elderly patients with CKD will require a

  13. Association of TSH Elevation with All-Cause Mortality in Elderly Patients with Chronic Kidney Disease.

    PubMed

    Chuang, Mei-Hsing; Liao, Kuo-Meng; Hung, Yao-Min; Chou, Yi-Chang; Chou, Pesus

    2017-01-01

    Chronic kidney disease (CKD) is a widespread condition in the global population and is more common in the elderly. Thyroid-stimulating hormone (TSH) level increases with aging, and hypothyroidism is highly prevalent in CKD patients. However, the relationship between low thyroid function and mortality in CKD patients is unclear. Therefore, we conducted a retrospective cohort study to examine the relationship between TSH elevation and all-cause mortality in elderly patients with CKD. This retrospective cohort study included individuals ≥65 years old with CKD (n = 23,786) in Taipei City. Health examination data from 2005 to 2010 were provided by the Taipei Databank for Public Health Analysis. Subjects were categorized according to thyroid-stimulating hormone (TSH) level as follows: low normal (0.34disease (coronary artery disease, congestive heart failure, cerebral vascular disease), history of cancer, and history of chronic obstructive pulmonary disease. Our results showed that compared to the reference group (middle normal TSH), the risk of all-cause mortality was increased in the elevated I group (hazard ratio [HR], 1.21; 95% confidence interval [CI], 1.02-1.45) and elevated II group (HR, 1.30; 95% CI, 1.00-1.69). We found a significant association between TSH elevation and all-cause mortality in this cohort of elderly persons with CKD. However, determining the benefit of treatment for moderately elevated TSH level (5.2-10 mIU/L) in elderly patients with CKD will require a well

  14. Loss of presenilin function causes Alzheimer's disease-like neurodegeneration in the mouse.

    PubMed

    Chen, Qian; Nakajima, Akira; Choi, Se Hoon; Xiong, Xiaoli; Tang, Ya-Ping

    2008-05-15

    Accumulating evidence has indicated that gain-of-function in beta-amyloid production may be not the necessary mechanism for mutant presenilin-1 (PS1) or PS2 to cause familial Alzheimer's disease (AD). In the present article, we show that conditional knockout of PS1 from the adult stage in the forebrain of mice with the PS2 null mutation triggers robust AD-like neurodegeneration including brain shrinkage, cortical and hippocampal atrophy,ventricular enlargement, severe neuronal loss, gliosis, tau hyperphosphorylation, neurofillament tangle-like structures, and intracellular filaments. Learning and memory functions in these mice are almost completely lost. Notably, there is no beta-amyloid deposition, indicating that presenilin dysfunction can directly cause neurodegeneration without the involvement of beta-amyloid. Furthermore, neurodegeneration occurs in a progressive manner following aging, suggesting that an accumulating effect of presenilin dysfunction over time might be a pathogenic mechanism for the involvement of mutant PS1/PS2 in causing AD. These results validate a mouse model characterized by the presence of many features of AD pathology. Furthermore, the demonstration of AD-like neurodegeneration in the absence of beta-amyloid deposition challenges the long-standing beta-amyloid cascade hypothesis and encourages an open debate on the role of beta-amyloid in causing AD. Most important, our results strongly suggest that to develop gamma-secretase inhibitors for the pharmacological treatment of AD may be not a reasonable strategy because antagonism of presenilin function may worsen neurodegeneration.

  15. C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.

    PubMed

    Kostić, Vladimir S; Dobričić, Valerija; Stanković, Iva; Ralić, Vesna; Stefanova, Elka

    2014-10-01

    Huntington disease (HD), the most common inherited cause of chorea, is an autosomal dominant disorder, caused by an expanded trinucleotide CAG repeat (>39) in the HTT gene on chromosome 4p16.3. Among patients diagnosed as HD solely on clinical grounds, a certain number was negative on genetic testing for HD. Therefore, HD-like disorders comprised a number of genetic causes of chorea, that may be indistinguishable from HD (e.g. HD phenocopy syndrome). Recent data suggested that the C9orf72 expansion may be the most common genetic cause of HD phenocopy presentations. In continuation with this observation, we analyzed a small cohort of 39 patients with HD phenocopy syndrome and detected the C9orf72 expansion in one female patient (2.6%) with two-year lasting mild generalized chorea and severe oro-bucco-lingual dyskinesia, who complained on forgetfullness (neuropsychological testing revealed dysexecutive syndrome with preserved episodic memory and recognition), unexplainable fears and increased appetite. Our results confirmed a possible role of the C9orf72 expansion in the genetic background of HD phenocopy syndrome.

  16. Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

    PubMed Central

    Sugiana, Canny; Pagliarini, David J.; McKenzie, Matthew; Kirby, Denise M.; Salemi, Renato; Abu-Amero, Khaled K.; Dahl, Hans-Henrik M.; Hutchison, Wendy M.; Vascotto, Katherine A.; Smith, Stacey M.; Newbold, Robert F.; Christodoulou, John; Calvo, Sarah; Mootha, Vamsi K.; Ryan, Michael T.; Thorburn, David R.

    2008-01-01

    Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA and 38 nuclear-encoded subunits that are assembled together in a process that is only partially understood. To date, mutations causing complex I deficiency have been described in all 14 core subunits, five supernumerary subunits, and four assembly factors. We describe complex I deficiency caused by mutation of the putative complex I assembly factor C20orf7. A candidate region for a lethal neonatal form of complex I deficiency was identified by homozygosity mapping of an Egyptian family with one affected child and two affected pregnancies predicted by enzyme-based prenatal diagnosis. The region was confirmed by microcell-mediated chromosome transfer, and 11 candidate genes encoding potential mitochondrial proteins were sequenced. A homozygous missense mutation in C20orf7 segregated with disease in the family. We show that C20orf7 is peripherally associated with the matrix face of the mitochondrial inner membrane and that silencing its expression with RNAi decreases complex I activity. C20orf7 patient fibroblasts showed an almost complete absence of complex I holoenzyme and were defective at an early stage of complex I assembly, but in a manner distinct from the assembly defects caused by mutations in the assembly factor NDUFAF1. Our results indicate that C20orf7 is crucial in the assembly of complex I and that mutations in C20orf7 cause mitochondrial disease. PMID:18940309

  17. Exposure to nicotine is probably a major cause of inflammatory diseases among non-smokers.

    PubMed

    Gracia, M C

    2005-01-01

    This article assesses the hypothesis that most inflammatory diseases are conditioned responses caused by the psychoactive action of nicotine. Even in very 'light' passive smokers, the repeated nicotinic stimulation of the reward system can produce, through classical and subsequent operant conditioning, unconscious addiction to most relevant perceptions occurring simultaneously, including the artificial, non-localised sensation of pain or sickness caused by the action of nicotine on the nociceptive 'cholinergic anti-inflammatory pathway'. During nicotine abstinence and especially under stress, the brain previously addicted to this pain is compelled to reproduce it by the only method available without nicotine: causing lesions or cellular stress in one's organism, for example, by triggering intense inflammations. The author's observations and two independent studies have confirmed that nicotine withdrawal causes inflammatory crises. Furthermore, there is evidence that severe inflammations can be triggered even by almost unnoticeable exposures to nicotine, for example, by staying several minutes outdoors at a few metres from smokers. This has been clearly observed by one patient and can be deduced from theoretical considerations (sensitivity of neural pathways and cumulativeness of conditioning processes) and an animal experimental reference, and is confirmed by the fact that most inflammatory diseases affect similarly all non-smokers regardless of their apparent exposure to nicotine, despite the proven relation between nicotine withdrawal and inflammation. This sensitivity implies that the outdoors atmosphere of most densely populated urban areas represents now a serious health hazard, probably requiring the prohibition of all smokable forms of nicotine. The usual anti-smoking measures focused on closed spaces are inefficient against this danger.

  18. Epidemiology of foodborne disease outbreaks caused by Clostridium perfringens, United States, 1998-2010.

    PubMed

    Grass, Julian E; Gould, L Hannah; Mahon, Barbara E

    2013-02-01

    Clostridium perfringens is estimated to be the second most common bacterial cause of foodborne illness in the United States, causing one million illnesses each year. Local, state, and territorial health departments voluntarily report C. perfringens outbreaks to the U.S. Centers for Disease Control and Prevention through the Foodborne Disease Outbreak Surveillance System. Our analysis included outbreaks confirmed by laboratory evidence during 1998-2010. A food item was implicated if C. perfringens was isolated from food or based on epidemiologic evidence. Implicated foods were classified into one of 17 standard food commodities when possible. From 1998 to 2010, 289 confirmed outbreaks of C. perfringens illness were reported with 15,208 illnesses, 83 hospitalizations, and eight deaths. The number of outbreaks reported each year ranged from 16 to 31 with no apparent trend over time. The annual number of outbreak-associated illnesses ranged from 359 to 2,173, and the median outbreak size was 24 illnesses. Outbreaks occurred year round, with the largest number in November and December. Restaurants (43%) were the most common setting of food preparation. Other settings included catering facility (19%), private home (16%), prison or jail (11%), and other (10%). Among the 144 (50%) outbreaks attributed to a single food commodity, beef was the most common commodity (66 outbreaks, 46%), followed by poultry (43 outbreaks, 30%), and pork (23 outbreaks, 16%). Meat and poultry outbreaks accounted for 92% of outbreaks with an identified single food commodity. Outbreaks caused by C. perfringens occur regularly, are often large, and can cause substantial morbidity yet are preventable if contamination of raw meat and poultry products is prevented at the farm or slaughterhouse or, after contamination, if these products are properly handled and prepared, particularly in restaurants and catering facilities.

  19. Vitamin D status and incident cardiovascular disease and all-cause mortality: a general population study.

    PubMed

    Skaaby, Tea; Husemoen, Lise Lotte Nystrup; Pisinger, Charlotta; Jørgensen, Torben; Thuesen, Betina Heinsbæk; Fenger, Mogens; Linneberg, Allan

    2013-06-01

    Low vitamin D status has been associated with cardiovascular disease (CVD) and mortality primarily in selected groups, smaller studies, or with self-reported vitamin D intake. We investigated the association of serum vitamin D status with the incidence of a registry-based diagnosis of ischemic heart disease (IHD), stroke, and all-cause mortality in a large sample of the general population. A total of 9,146 individuals from the two population-based studies, Monica10 and Inter99, were included. Measurements of serum 25-hydroxyvitamin D at baseline were carried out using the IDS ISYS immunoassay system in Monica10 and High-performance liquid chromatography in Inter99. Information on CVDs and causes of death was obtained from Danish registries until 31 December 2008. There were 478 cases of IHD, 316 cases of stroke, and 633 deaths during follow-up (mean follow-up 10 years). Cox regression analyses with age as underlying time axis showed a significant association between vitamin D status and all-cause mortality with a HR = 0.95 (P = 0.005) per 10 nmol/l higher vitamin D level. We found no association between vitamin D status and incidence of IHD or stroke (HR = 1.01, P = 0.442 and HR = 1.00, P = 0.920, respectively). In this large general population study, the observed inverse association between serum vitamin D status and all-cause mortality was not explained by a similar inverse association with IHD or stroke.

  20. Consumption of whole grains in relation to mortality from all causes, cardiovascular disease, and diabetes

    PubMed Central

    Li, Bailing; Zhang, Guanxin; Tan, Mengwei; Zhao, Libo; Jin, Lei; Tang, Xiaojun; Jiang, Gengxi; Zhong, Keng

    2016-01-01

    Abstract Background: To investigate the correlation between consumption of whole grains and the risk of all-cause, cardiovascular disease (CVD), and diabetes-specific mortality according to a dose–response meta-analysis of prospective cohort studies. Methods: Observational cohort studies, which reported associations between whole grains and the risk of death outcomes, were identified by searching articles in the MEDLINE, EMBASE, and the reference lists of relevant articles. The search was up to November 30, 2015. Data extraction was performed by 2 independent investigators, and a consensus was reached with involvement of a third. Results: Ten prospective cohort studies (9 publications) were eligible in this meta-analysis. During follow-up periods ranging from 5.5 to 26 years, there were 92,647 deaths among 782,751 participants. Overall, a diet containing greater amounts of whole grains may be associated with a lower risk of all-cause, CVD-, and coronary heart disease (CHD)-specific mortality. The summary relative risks (RRs) were 0.93 (95% confidence intervals [CIs]: 0.91–0.95; Pheterogeneity < 0.001) for all-cause mortality, 0.95 (95% CIs: 0.92–0.98; Pheterogeneity < 0.001) for CVD-specific mortality, and 0.92 (95% CIs: 0.88–0.97; Pheterogeneity < 0.001) for CHD-specific mortality for an increment of 1 serving (30 g) a day of whole grain intake. The combined estimates were robust across subgroup and sensitivity analyses. Higher consumption of whole grains was not appreciably associated with risk of mortality from stroke and diabetes. Conclusion: Evidence from observational cohort studies indicates inverse associations of intake of whole grains with risk of mortality from all-cause, CVD, and CHD. However, no associations with risk of deaths from stroke and diabetes were observed. PMID:27537552

  1. Cat scratch disease, a rare cause of hypodense liver lesions, lymphadenopathy and a protruding duodenal lesion, caused by Bartonella henselae.

    PubMed

    van Ierland-van Leeuwen, Marloes; Peringa, Jan; Blaauwgeers, Hans; van Dam, Alje

    2014-10-29

    A 46-year-old woman presented with right upper abdominal pain and fever. At imaging, enlarged peripancreatic and hilar lymph nodes, as well as hypodense liver lesions, were detected, suggestive of malignant disease. At endoscopy, the mass adjacent to the duodenum was seen as a protruding lesion through the duodenal wall. A biopsy of this lesion, taken through the duodenal wall, showed a histiocytic granulomatous inflammation with necrosis. Serology for Bartonella henselae IgM was highly elevated a few weeks after presentation, consistent with the diagnosis of cat scratch disease. Clinical symptoms subsided spontaneously and, after treatment with azithromycin, the lymphatic masses, liver lesions and duodenal ulceration disappeared completely.

  2. Escalating chronic kidney diseases of multi-factorial origin in Sri Lanka: causes, solutions, and recommendations.

    PubMed

    Wimalawansa, Sunil J

    2014-11-01

    During the last two decades, Sri Lanka, located close to the equator, has experienced an escalating incidence of chronic kidney disease (CKD) of unknown aetiology (CKDue) in dry zonal areas. Similar incidences of unusual CKDs have been reported in the dry zonal, agricultural areas of several other equatorial countries. In Sri Lanka, the incidence of CKDue is highest in the North Central Province (NCP), where approximately 45 % of the country's paddy fields are located. However, in recent years, the disease has spread into areas adjacent to as well as distant from the NCP. The cause of CKD in Sri Lanka is unknown, and may likely due to interactions of different potential agents; thus, CKD is of multi-factorial origin (CKD-mfo). These factors include, the negative effects from overuse of agrochemicals. Nevertheless, the potential interactions and synergism between probable agents have not been studied. This systematic review discusses the proposed hypotheses and causes of CKD-mfo in Sri Lanka, and ways to decrease the incidence of this disease and to eradicate it, and provide some recommendations. During the past decade, a number of groups have investigated this disorder using different methodologies and reported various correlations, but failed to find a cause. Research has focussed on the contamination of water with heavy metals, agrochemicals, hard water, algae, ionicity, climate change, and so forth. Nevertheless, the levels of any of the pollutants or conditions reported in water in NPC are inconsistent not correlated with the prevalence of the disease, and are too low to be the sole cause of CKD-mfo. Meanwhile, several nephrotoxins prevalent in the region, including medications, leptospirosis, toxic herbs, illicit alcohol, locally grown tobacco, and petrochemicals, as well as the effects of changed habits occured over the past four decades have not been studied to date. Taken together, the geographical distribution and overall findings indicate that

  3. [Current Status of Genetic Diagnosis of Charcot-Marie-Tooth Disease: Variety of the Disease-causing Genes].

    PubMed

    Hashiguchi, Akihiro; Higuchi, Yujiro; Takashima, Hiroshi

    2016-01-01

    At least 40 genes have been associated with Charcot-Marie-Tooth disease (CMT) and the related inherited neuropathies. Genetic studies have revealed the following factors as causes of inherited neuropathies: myelin components, transcription factors for myelination, myelin maintenance systems, differentiation factors of the peripheral nerve, neurofilaments, protein transfer systems, mitochondrial proteins, DNA repair, RNA/protein synthesis, ion channels, and aminoacyl-tRNA synthetases. Since 2007, we have tried to screen for mutations in CMT patients using microarrays or next generation sequencers. As a result, the detection rate of gene mutations has improved to about 25%. In this study, we applied target resequencing to 72 genes. From the negative examples, we identified the cases based on clinical course, family history, and electrophysiological findings, and then performed exome analysis. We then tried to identify novel causative genes by analyzing the enormous data obtained from our exome analysis.

  4. Atherosclerosis and Alzheimer - diseases with a common cause? Inflammation, oxysterols, vasculature

    PubMed Central

    2014-01-01

    Background Aging is accompanied by increasing vulnerability to pathologies such as atherosclerosis (ATH) and Alzheimer disease (AD). Are these different pathologies, or different presentations with a similar underlying pathoetiology? Discussion Both ATH and AD involve inflammation, macrophage infiltration, and occlusion of the vasculature. Allelic variants in common genes including APOE predispose to both diseases. In both there is strong evidence of disease association with viral and bacterial pathogens including herpes simplex and Chlamydophila. Furthermore, ablation of components of the immune system (or of bone marrow-derived macrophages alone) in animal models restricts disease development in both cases, arguing that both are accentuated by inflammatory/immune pathways. We discuss that amyloid β, a distinguishing feature of AD, also plays a key role in ATH. Several drugs, at least in mouse models, are effective in preventing the development of both ATH and AD. Given similar age-dependence, genetic underpinnings, involvement of the vasculature, association with infection, Aβ involvement, the central role of macrophages, and drug overlap, we conclude that the two conditions reflect different manifestations of a common pathoetiology. Mechanism Infection and inflammation selectively induce the expression of cholesterol 25-hydroxylase (CH25H). Acutely, the production of ‘immunosterol’ 25-hydroxycholesterol (25OHC) defends against enveloped viruses. We present evidence that chronic macrophage CH25H upregulation leads to catalyzed esterification of sterols via 25OHC-driven allosteric activation of ACAT (acyl-CoA cholesterol acyltransferase/SOAT), intracellular accumulation of cholesteryl esters and lipid droplets, vascular occlusion, and overt disease. Summary We postulate that AD and ATH are both caused by chronic immunologic challenge that induces CH25H expression and protection against particular infectious agents, but at the expense of longer-term pathology

  5. Bud Rot Caused by Phytophthora palmivora: A Destructive Emerging Disease of Oil Palm.

    PubMed

    Torres, G A; Sarria, G A; Martinez, G; Varon, F; Drenth, A; Guest, D I

    2016-04-01

    Oomycetes from the genus Phytophthora are among the most important plant pathogens in agriculture. Epidemics caused by P. infestans precipitated the great Irish famine and had a major impact on society and human history. In the tropics, P. palmivora is a pathogen of many plant species including cacao (Theobroma cacao), citrus (Citrus sp.), durian (Durio zibethines), jackfruit (Artrocarpus heterophyllus), rubber (Hevea brasiliensis), and several palm species including coconut (Cocos nucifera), and the African oil palm (Elaeis guineensis) as determined recently. The first localized epidemics of bud rot in oil palm in Colombia were reported in 1964. However, recent epidemics of bud rot have destroyed more than 70,000 ha of oil palm in the Western and Central oil palm growing regions of Colombia. The agricultural, social, and economic implications of these outbreaks have been significant in Colombia. Identification of the pathogen after 100 years of investigating the disease in the world enabled further understanding of infection, expression of a range of symptoms, and epidemiology of the disease. This review examines the identification of P. palmivora as the cause of bud rot in Colombia, its epidemiology, and discusses the importance of P. palmivora as a major threat to oil palm plantings globally.

  6. Emerging tick-borne disease in African vipers caused by a Cowdria-like organism.

    PubMed

    Kiel, Johnathan L; Alarcon, Rodolfo M; Parker, Jill E; Vivekananda, Jeeva; Gonzalez, Yvette B; Stribling, Lucille J V; Andrews, Carrie J

    2006-10-01

    Heartwater is a tick-borne infectious disease caused by the rickettsial organism Cowdria ruminantium, currently Ehrlichia ruminantium. It poses an imminent threat to the Western Hemisphere, where it could cause mortality in cattle and other ruminant livestock in excess of 70%. It has been reported in the Caribbean; and its vector, Amblyomma sparsum, has been found on imported African spurred tortoises (Geochelone sulcata) and leopard tortoises (Geochelone pardalis) in southern Florida in the United States, leading to an importation ban on these reptiles. Symptoms have not been previously reported in reptiles. Here, we report peracute and acute deaths in African vipers imported from Africa through Florida. Signs included vomiting mucoid fluid, diarrhea, emaciation, convulsions, and death. Postmortem showed few gross lesions. The most consistent peracute and acute lesions were the pulmonary lesions and pericarditis with considerable bloody fluid in the pericardial sac (hydropericardium). These lesions strongly resembled the lesions of heartwater and a coccobacillus of less than 1-micron diameter was isolated in viper cell culture. The outbreak was brought to a halt by tick control and treatment of all exposed snakes with tetracycline. This isolation, tetracycline sensitivity, clinical signs, preliminary results with polymerase chain reaction of pCS20 ORF, and the viper preference of the disease may indicate a Cowdria-related attenuated species that has adapted to infect reptiles or an emerging new form of this group of microbes.

  7. Activation of Helicobacter pylori causes either autoimmune thyroid diseases or carcinogenesis in the digestive tract.

    PubMed

    Astl, J; Šterzl, I

    2015-01-01

    Helicobacter pylori has been implicated in stimulation of immune system, development of autoimmune endocrinopathies as autoimmune thyroiditis (AT) and on other hand induction of immunosupresion activates gastric and extra-gastric diseases such as gastric ulcer or cancer. It causes persistent lifelong infection despite local and systemic immune response. Our results indicate that Helicobacter pylori might cause inhibition of the specific cellular immune response in Helicobacter pylori-infected patients with or without autoimmune diseases such as AT. We cannot also declare the carcinogenic effect in oropharynx. However the association of any infection agents and cancerogenesis exists. The adherence of Helicobacter pylori expression and enlargement of benign lymphatic tissue and the high incidence of the DNA of Helicobacter pylori in laryngopharyngeal and oropharyngeal cancer is reality. LTT appears to be a good tool for detection of immune memory cellular response in patients with Helicobacter pylori infection and AT. All these complications of Helicobacter pylori infection can be abrogated by successful eradication of Helicobacter pylori.

  8. [Frequency and causes of vascular complications requiring surgery in patients without primary vascular disease].

    PubMed

    Pongratz, J; Reeps, C; Eckstein, H-H

    2011-10-01

    Arterial and venous vascular injuries are known but rare complications of severe multiple traumatised patients but are meanwhile more frequently induced iatrogenically. However there are only few reports about incidence, causes, surgical techniques and prognosis of these vascular emergencies. We have therefore analysed the causes, type of therapy, localisation of injury, primary dis-ease, morbidity and mortality of all vascular emergencies in patients without preexisting vascular disease. 2.9 % of all vascular repairs in our unit had to be performed for cases of iatrogenic (87 %) and non-iatrogenic (13 %) vascular complications. The overall mortality and major complication rate of these intrahospital iatrogenically aquired lesions were 4.8 % and 5 %, respectively, which are clearly below those of extrahospital vascular injuries. Thereby the observed increase of iatrogenic vascular injuries seems to be due to the increase in complex and even catheter-based techniques in modern therapy. The iliacofemoral region was affected in 45 % of the cases, in 50 % complex reconstructions and specific surgical skills were needed for the repair. This article on the incidence of and reasons for vascular iatrogenic lesions shows the importance of a planned management for the prognosis of these injuries.

  9. Isoprenoid precursor biosynthesis offers potential targets for drug discovery against diseases caused by apicomplexan parasites.

    PubMed

    Hunter, William N

    2011-01-01

    Two, simple, C5 compounds, dimethylally diphosphate and isopentenyl diphosphate, are the universal precursors of isoprenoids, a large family of natural products involved in numerous important biological processes. Two distinct biosynthetic pathways have evolved to supply these precursors. Humans use the mevalonate route whilst many species of bacteria including important pathogens, plant chloroplasts and apicomplexan parasites exploit the non-mevalonate pathway. The absence from humans, combined with genetic and chemical validation suggests that the non-mevalonate pathway holds the potential to support new drug discovery programmes targeting Gram-negative bacteria and the apicomplexan parasites responsible for causing serious human diseases, and also infections of veterinary importance. The non-mevalonate pathway relies on eight enzyme-catalyzed stages exploiting a range of cofactors and metal ions. A wealth of structural and mechanistic data, mainly derived from studies of bacterial enzymes, now exists for most components of the pathway and these will be described. Particular attention will be paid to how these data inform on the apicomplexan orthologues concentrating on the enzymes from Plasmodium spp. these cause malaria, one the most important parasitic diseases in the world today.

  10. The nature and causes of chronic obstructive pulmonary disease: A historical perspective

    PubMed Central

    Warren, C Peter W

    2009-01-01

    Chronic obstructive pulmonary disease (COPD) is the currently favoured name for the diseases formerly known as emphysema and bronchitis. COPD has been recognized for more than 200 years. Its cardinal symptoms are cough, phlegm and dyspnea, and its pathology is characterized by enlarged airspaces and obstructed airways. In the 19th century, the diagnosis of COPD depended on its symptoms and signs of a hyperinflated chest, and reduced expiratory breath sounds. The airflow obstruction evident on spirometry was identified in that century, but did not enter into clinical practice. Bronchitis, and the mechanical forces required to overcome its obstruction, was believed to be responsible for emphysema, although the inflammation present was recognized. The causes of bronchitis, and hence emphysema, included atmospheric and domestic air pollution, as well as dusty occupations. Cigarette smoking only became recognized as the dominant cause in the 20th century. The lessons learned of the risks for COPD in 19th-century Britain are very pertinent to the world today. PMID:19262908

  11. A hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis

    PubMed Central

    Jacobs, Cheryl; Huang, Ying; Masud, Tehmina; Lu, William; Westfield, Gerwin; Giblin, William; Sekiguchi, JoAnn M.

    2011-01-01

    The Artemis gene encodes a DNA nuclease that plays important roles in non-homologous end-joining (NHEJ), a major double-strand break (DSB) repair pathway in mammalian cells. NHEJ factors repair general DSBs as well as programmed breaks generated during the lymphoid-specific DNA rearrangement, V(D)J recombination, which is required for lymphocyte development. Mutations that inactivate Artemis cause a human severe combined immunodeficiency syndrome associated with cellular radiosensitivity. In contrast, hypomorphic Artemis mutations result in combined immunodeficiency syndromes of varying severity, but, in addition, are hypothesized to predispose to lymphoid malignancy. To elucidate the distinct molecular defects caused by hypomorphic compared with inactivating Artemis mutations, we examined tumor predisposition in a mouse model harboring a targeted partial loss-of-function disease allele. We find that, in contrast to Artemis nullizygosity, the hypomorphic mutation leads to increased aberrant intra- and interchromosomal V(D)J joining events. We also observe that dysfunctional Artemis activity combined with p53 inactivation predominantly predisposes to thymic lymphomas harboring clonal translocations distinct from those observed in Artemis nullizygosity. Thus, the Artemis hypomorphic allele results in unique molecular defects, tumor spectrum and oncogenic chromosomal rearrangements. Our findings have significant implications for disease outcomes and treatment of patients with different Artemis mutations. PMID:21147755

  12. Human Hemorrhagic Fever Causing Arenaviruses: Molecular Mechanisms Contributing to Virus Virulence and Disease Pathogenesis

    PubMed Central

    Shao, Junjie; Liang, Yuying; Ly, Hinh

    2015-01-01

    Arenaviruses include multiple human pathogens ranging from the low-risk lymphocytic choriomeningitis virus (LCMV) to highly virulent hemorrhagic fever (HF) causing viruses such as Lassa (LASV), Junin (JUNV), Machupo (MACV), Lujo (LUJV), Sabia (SABV), Guanarito (GTOV), and Chapare (CHPV), for which there are limited preventative and therapeutic measures. Why some arenaviruses can cause virulent human infections while others cannot, even though they are isolated from the same rodent hosts, is an enigma. Recent studies have revealed several potential pathogenic mechanisms of arenaviruses, including factors that increase viral replication capacity and suppress host innate immunity, which leads to high viremia and generalized immune suppression as the hallmarks of severe and lethal arenaviral HF diseases. This review summarizes current knowledge of the roles of each of the four viral proteins and some known cellular factors in the pathogenesis of arenaviral HF as well as of some human primary cell-culture and animal models that lend themselves to studying arenavirus-induced HF disease pathogenesis. Knowledge gained from these studies can be applied towards the development of novel therapeutics and vaccines against these deadly human pathogens. PMID:26011826

  13. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

    PubMed

    Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H; Barsottini, Orlando G P; Kawarai, Toshitaka; Orlacchio, Antonio

    2016-01-01

    Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot

  14. Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.

    PubMed

    Nabhani, Schafiq; Ginzel, Sebastian; Miskin, Hagit; Revel-Vilk, Shoshana; Harlev, Dan; Fleckenstein, Bernhard; Hönscheid, Andrea; Oommen, Prasad T; Kuhlen, Michaela; Thiele, Ralf; Laws, Hans-Jürgen; Borkhardt, Arndt; Stepensky, Polina; Fischer, Ute

    2015-09-01

    Autoimmune lymphoproliferative syndrome is frequently caused by mutations in genes involved in the Fas death receptor pathway, but for 20-30% of patients the genetic defect is unknown. We observed that treatment of healthy T cells with interleukin-12 induces upregulation of Fas ligand and Fas ligand-dependent apoptosis. Consistently, interleukin-12 could not induce apoptosis in Fas ligand-deficient T cells from patients with autoimmune lymphoproliferative syndrome. We hypothesized that defects in the interleukin-12 signaling pathway may cause a similar phenotype as that caused by mutations of the Fas ligand gene. To test this, we analyzed 20 patients with autoimmune lymphoproliferative syndrome of unknown cause by whole-exome sequencing. We identified a homozygous nonsense mutation (c.698G>A, p.R212*) in the interleukin-12/interleukin-23 receptor-component IL12RB1 in one of these patients. The mutation led to IL12RB1 protein truncation and loss of cell surface expression. Interleukin-12 and -23 signaling was completely abrogated as demonstrated by deficient STAT4 phosphorylation and interferon γ production. Interleukin-12-mediated expression of membrane-bound and soluble Fas ligand was lacking and basal expression was much lower than in healthy controls. The patient presented with the classical symptoms of autoimmune lymphoproliferative syndrome: chronic non-malignant, non-infectious lymphadenopathy, splenomegaly, hepatomegaly, elevated numbers of double-negative T cells, autoimmune cytopenias, and increased levels of vitamin B12 and interleukin-10. Sanger sequencing and whole-exome sequencing excluded the presence of germline or somatic mutations in genes known to be associated with the autoimmune lymphoproliferative syndrome. Our data suggest that deficient regulation of Fas ligand expression by regulators such as the interleukin-12 signaling pathway may be an alternative cause of autoimmune lymphoproliferative syndrome-like disease.

  15. Animal models of Parkinson's disease: a source of novel treatments and clues to the cause of the disease

    PubMed Central

    Duty, Susan; Jenner, Peter

    2011-01-01

    Animal models of Parkinson's disease (PD) have proved highly effective in the discovery of novel treatments for motor symptoms of PD and in the search for clues to the underlying cause of the illness. Models based on specific pathogenic mechanisms may subsequently lead to the development of neuroprotective agents for PD that stop or slow disease progression. The array of available rodent models is large and ranges from acute pharmacological models, such as the reserpine- or haloperidol-treated rats that display one or more parkinsonian signs, to models exhibiting destruction of the dopaminergic nigro-striatal pathway, such as the classical 6-hydroxydopamine (6-OHDA) rat and 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse models. All of these have provided test beds in which new molecules for treating the motor symptoms of PD can be assessed. In addition, the emergence of abnormal involuntary movements (AIMs) with repeated treatment of 6-OHDA-lesioned rats with L-DOPA has allowed for examination of the mechanisms responsible for treatment-related dyskinesia in PD, and the detection of molecules able to prevent or reverse their appearance. Other toxin-based models of nigro-striatal tract degeneration include the systemic administration of the pesticides rotenone and paraquat, but whilst providing clues to disease pathogenesis, these are not so commonly used for drug development. The MPTP-treated primate model of PD, which closely mimics the clinical features of PD and in which all currently used anti-parkinsonian medications have been shown to be effective, is undoubtedly the most clinically-relevant of all available models. The MPTP-treated primate develops clear dyskinesia when repeatedly exposed to L-DOPA, and these parkinsonian animals have shown responses to novel dopaminergic agents that are highly predictive of their effect in man. Whether non-dopaminergic drugs show the same degree of predictability of response is a matter of debate. As our

  16. Phenotypic and Genotypic Characteristics of Neisseria meningitidis Disease-Causing Strains in Argentina, 2010

    PubMed Central

    Sorhouet-Pereira, Cecilia; Efron, Adriana; Gagetti, Paula; Faccone, Diego; Regueira, Mabel; Corso, Alejandra; Gabastou, Jean-Marc; Ibarz-Pavón, Ana Belén

    2013-01-01

    Phenotypic and genotypic characterization of 133 isolates of Neisseria meningitidis obtained from meningococcal disease cases in Argentina during 2010 were performed by the National Reference Laboratory as part of a project coordinated by the PAHO within the SIREVA II network. Serogroup, serotype, serosubtype and MLST characterization were performed. Minimum Inhibitory Concentration to penicillin, ampicillin, ceftriaxone, rifampin, chloramphenicol, tetracycline and ciprofloxacin were determined and interpreted according to CLSI guidelines. Almost 49% of isolates were W135, and two serotype:serosubtype combinations, W135∶2a:P1.5,2:ST-11 and W135∶2a:P1.2:ST-11 accounted for 78% of all W135 isolates. Serogroup B accounted for 42.1% of isolates, and was both phenotypically and genotypically diverse. Serogroup C isolates represented 5.3% of the dataset, and one isolate belonging to the ST-198 complex was non-groupable. Isolates belonged mainly to the ST-11 complex (48%) and to a lesser extent to the ST-865 (18%), ST-32 (9,8%) and the ST-35 complexes (9%). Intermediate resistance to penicillin and ampicillin was detected in 35.4% and 33.1% of isolates respectively. Two W135∶2a:P1.5,2:ST-11:ST-11 isolates presented resistance to ciprofloxacin associated with a mutation in the QRDR of gyrA gene Thr91-Ile. These data show serogroup W135 was the first cause of disease in Argentina in 2010, and was strongly associated with the W135∶2a:P1.5,2:ST-11 epidemic clone. Serogroup B was the second cause of disease and isolates belonging to this serogroup were phenotypically and genotypically diverse. The presence of isolates with intermediate resistance to penicillin and the presence of fluorquinolone-resistant isolates highlight the necessity and importance of maintaining and strengthening National Surveillance Programs. PMID:23483970

  17. Genetic variants of Kudoa septempunctata (Myxozoa: Multivalvulida), a flounder parasite causing foodborne disease.

    PubMed

    Takeuchi, F; Ogasawara, Y; Kato, K; Sekizuka, T; Nozaki, T; Sugita-Konishi, Y; Ohnishi, T; Kuroda, M

    2016-06-01

    Foodborne disease outbreaks caused by raw olive flounders (Paralichthys olivaceus) parasitized with Kudoa septempunctata have been reported in Japan. Origins of olive flounders consumed in Japan vary, being either domestic or imported, and aquaculture-raised or natural. Although it is unknown whether different sources are associated with different outcomes, it is desirable to identify whether this is the case by determining whether unique K. septempunctata strains occur and if so, whether some are associated with foodborne illness. We here developed an intraspecific genotyping method, using the sequence variation of mitochondrial genes. We collected olive flounder samples from foodborne disease outbreaks, domestic fish farms or quarantine offices and investigated whether K. septempunctata genotype is associated with pathogenicity or geographic origin. The 104 samples were classified into three genotypes, ST1, ST2 and ST3. Frequency of symptomatic cases differed by genotypes, but the association was not statistically significant. Whereas K. septempunctata detected from aquaculture-raised and natural fish from Japan were either ST1 or ST2, those from fish inspected at quarantine from Korea to Japan were ST3. Our method can be applied to phylogeographic analysis of K. septempunctata and contribute to containing the foodborne disease. The genotype database is hosted in the PubMLST website (http://pubmlst.org/kseptempunctata/).

  18. Malnutrition as an underlying cause of childhood deaths associated with infectious diseases in developing countries.

    PubMed Central

    Rice, A. L.; Sacco, L.; Hyder, A.; Black, R. E.

    2000-01-01

    INTRODUCTION: Recent estimates suggest that malnutrition (measured as poor anthropometric status) is associated with about 50% of all deaths among children. Although the association between malnutrition and all-cause mortality is well documented, the malnutrition-related risk of death associated with specific diseases is less well described. We reviewed published literature to examine the evidence for a relation between malnutrition and child mortality from diarrhoea, acute respiratory illness, malaria and measles, conditions that account for over 50% of deaths in children worldwide. METHODS: MEDLINE was searched for suitable review articles and original reports of community-based and hospital-based studies. Findings from cohort studies and case-control studies were reviewed and summarized. RESULTS: The strongest and most consistent relation between malnutrition and an increased risk of death was observed for diarrhoea and acute respiratory infection. The evidence, although limited, also suggests a potentially increased risk for death from malaria. A less consistent association was observed between nutritional status and death from measles. Although some hospital-based studies and case-control studies reported an increased risk of mortality from measles, few community-based studies reported any association. DISCUSSION: The risk of malnutrition-related mortality seems to vary for different diseases. These findings have important implications for the evaluation of nutritional intervention programmes and child survival programmes being implemented in settings with different disease profiles. PMID:11100616

  19. Clinical and Molecular Epidemiology of Haemophilus influenzae Causing Invasive Disease in Adult Patients

    PubMed Central

    Puig, Carmen; Grau, Imma; Tubau, Fe; Calatayud, Laura; Pallares, Roman; Liñares, Josefina

    2014-01-01

    Objectives The epidemiology of invasive Haemophilus influenzae (Hi) has changed since the introduction of the Hi type b (Hib) vaccine. The aim of this study was to analyze the clinical and molecular epidemiology of Hi invasive disease in adults. Methods Clinical data of the 82 patients with Hi invasive infections were analyzed. Antimicrobial susceptibility, serotyping, and genotyping were studied (2008–2013). Results Men accounted for 63.4% of patients (whose mean age was 64.3 years). The most frequent comorbidities were immunosuppressive therapy (34.1%), malignancy (31.7%), diabetes, and COPD (both 22%). The 30-day mortality rate was 20.7%. The majority of the strains (84.3%) were nontypeable (NTHi) and serotype f was the most prevalent serotype in the capsulated strains. The highest antimicrobial resistance was for cotrimoxazole (27.1%) and ampicillin (14.3%). Twenty-three isolates (32.9%) had amino acid changes in the PBP3 involved in resistance. Capsulated strains were clonal and belonged to clonal complexes 6 (serotype b), 124 (serotype f), and 18 (serotype e), whereas NTHi were genetically diverse. Conclusions Invasive Hi disease occurred mainly in elderly and those with underlying conditions, and it was associated with a high mortality rate. NTHi were the most common cause of invasive disease and showed high genetic diversity. PMID:25379704

  20. Antibacterial activity of leaves extracts of Trifolium alexandrinum Linn. against pathogenic bacteria causing tropical diseases

    PubMed Central

    Khan, Abdul Viqar; Ahmed, Qamar Uddin; Shukla, Indu; Khan, Athar Ali

    2012-01-01

    Objective To investigate antibacterial potential of Trifolium alexandrinum (T. alexandrinum) Linn. against seven gram positive and eleven gram negative hospital isolated human pathogenic bacterial strains responsible for many tropical diseases. Methods Non-polar and polar extracts of the leaves of T. alexandrinum i.e., hexane, dichloromethane (DCM), ethyl acetate (EtOAc), methanol (MeOH) and aqueous (AQ) extracts at five different concentrations (1, 2, 5, 10 and 15 mg/mL) were prepared to evaluate their antibacterial value. NCCL standards were strictly followed to perform antimicrobial disc susceptibility test using disc diffusion method. Results Polar extracts demonstrated significant antibacterial activity against tested pathogens. EtOAc and MeOH extracts showed maximum antibacterial activity with higher inhibition zone and were found effective against seventeen of the tested pathogens. While AQ plant extract inhibited the growth of sixteen of the test strains. EtOAc and MeOH plant extracts inhibited the growth of all seven gram positive and ten of the gram negative bacterial strains. Conclusions The present study strongly confirms the effectiveness of crude leaves extracts against tested human pathogenic bacterial strains causing several tropical diseases. Since Egyptian clover is used as a fodder plant, it could be helpful in controlling various infectious diseases associated with cattle as well. PMID:23569896

  1. Isolation and Characterization of Bacteriophages Against Pseudomonas syringae pv. actinidiae Causing Bacterial Canker Disease in Kiwifruit.

    PubMed

    Yu, Ji-Gang; Lim, Jeong-A; Song, Yu-Rim; Heu, Sunggi; Kim, Gyoung Hee; Koh, Young Jin; Oh, Chang-Sik

    2016-02-01

    Pseudomonas syringae pv. actinidiae causes bacterial canker disease in kiwifruit. Owing to the prohibition of agricultural antibiotic use in major kiwifruit-cultivating countries, alternative methods need to be developed to manage this disease. Bacteriophages are viruses that specifically infect target bacteria and have recently been reconsidered as potential biological control agents for bacterial pathogens owing to their specificity in terms of host range. In this study, we isolated bacteriophages against P. syringae pv. actinidiae from soils collected from kiwifruit orchards in Korea and selected seven bacteriophages for further characterization based on restriction enzyme digestion patterns of genomic DNA. Among the studied bacteriophages, two belong to the Myoviridae family and three belong to the Podoviridae family, based on morphology observed by transmission electron microscopy. The host range of the selected bacteriophages was confirmed using 18 strains of P. syringae pv. actinidiae, including the Psa2 and Psa3 groups, and some were also effective against other P. syringae pathovars. Lytic activity of the selected bacteriophages was sustained in vitro until 80 h, and their activity remained stable up to 50°C, at pH 11, and under UV-B light. These results indicate that the isolated bacteriophages are specific to P. syringae species and are resistant to various environmental factors, implying their potential use in control of bacterial canker disease in kiwifruits.

  2. Oxidative stress causes DNA triplet expansion in Huntington's disease mouse embryonic stem cells.

    PubMed

    Jonson, Ida; Ougland, Rune; Klungland, Arne; Larsen, Elisabeth

    2013-11-01

    Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded trinucleotide CAG repeat in the Huntingtin (Htt) gene. The molecular basis for the development and progression of HD is currently poorly understood. However, different DNA repair pathways have been implicated in both somatic expansion and disease progression. Embryonic stem cells provide a remarkable in vitro system to study HD and could have implications for understanding disease development and for therapeutic treatment. Here, we derive pluripotent stem cells from the mouse R6/1 HD model and demonstrate that repeated exposure to genotoxic agents inducing oxidative DNA damage gave a significant and dose dependent increase in somatic triplet expansion. Further investigation into specific steps of DNA repair revealed impaired double stranded break repair in exposed R6/1 cells, accompanied by the induction of apoptosis. We also found that differentiation status, and consequently DNA repair efficiency influenced somatic expansion. Our data underscore the importance of DNA damage and repair for the stability of the HD triplet in pluripotent stem cells.

  3. Notification of Huntington's disease as primary cause of death in Brazil from 1984 to 2008.

    PubMed

    Vaz, I P; Paiva, C L A

    2016-07-14

    The aim of this article was to conduct a retrospective observational study on reported deaths due to Huntington's disease (HD) in Brazil in the past 25 years (from 1984 to 2008). Data were obtained from the Brazilian Mortality Information System (SIM/DATASUS), the official system of Brazilian Mortality Database. The data obtained included information regarding the gender of the deceased and the number of death notifications, which we stratified by demographic regions and states. HD mortality per 100,000 was calculated and plotted in a graph. Linear regression was calculated using ordinary least square technique. We observed that the mortality due to HD recorded by SIM/DATASUS from 1984 to 2008 had increased at much higher rates than the population in the same period. Also, some Brazilian regions still show very low rates of HD mortality compared to the national average of deaths due to HD. These findings suggest that HD mortality has been underestimated. Ignorance about the disease as well as the fact that death from HD can occur as a consequence of heart disease, pneumonia, or suicide can strongly contribute to the misguided notification of HD as the cause of death in the official reports.

  4. Image-based modeling of hemodynamics in coronary artery aneurysms caused by Kawasaki disease.

    PubMed

    Sengupta, Dibyendu; Kahn, Andrew M; Burns, Jane C; Sankaran, Sethuraman; Shadden, Shawn C; Marsden, Alison L

    2012-07-01

    Kawasaki Disease (KD) is the leading cause of acquired pediatric heart disease. A subset of KD patients develops aneurysms in the coronary arteries, leading to increased risk of thrombosis and myocardial infarction. Currently, there are limited clinical data to guide the management of these patients, and the hemodynamic effects of these aneurysms are unknown. We applied patient-specific modeling to systematically quantify hemodynamics and wall shear stress in coronary arteries with aneurysms caused by KD. We modeled the hemodynamics in the aneurysms using anatomic data obtained by multi-detector computed tomography (CT) in a 10-year-old male subject who suffered KD at age 3 years. The altered hemodynamics were compared to that of a reconstructed normal coronary anatomy using our subject as the model. Computer simulations using a robust finite element framework were used to quantify time-varying shear stresses and particle trajectories in the coronary arteries. We accounted for the cardiac contractility and the microcirculation using physiologic downstream boundary conditions. The presence of aneurysms in the proximal coronary artery leads to flow recirculation, reduced wall shear stress within the aneurysm, and high wall shear stress gradients at the neck of the aneurysm. The wall shear stress in the KD subject (2.95-3.81 dynes/sq cm) was an order of magnitude lower than the normal control model (17.10-27.15 dynes/sq cm). Particle residence times were significantly higher, taking 5 cardiac cycles to fully clear from the aneurysmal regions in the KD subject compared to only 1.3 cardiac cycles from the corresponding regions of the normal model. In this novel quantitative study of hemodynamics in coronary aneurysms caused by KD, we documented markedly abnormal flow patterns that are associated with increased risk of thrombosis. This methodology has the potential to provide further insights into the effects of aneurysms in KD and to help risk stratify patients for

  5. Computed tomography findings of hepatic veno-occlusive disease caused by Sedum aizoon with histopathological correlation

    PubMed Central

    Shao, H.; Chen, H. Z.; Zhu, J. S.; Ruan, B.; Zhang, Z. Q.; Lin, X.; Gan, M. F.

    2015-01-01

    This study investigated the value of computed tomography (CT) in the diagnosis and treatment of hepatic veno-occlusive disease (HVOD) caused by Sedum aizoon (SA). The clinical manifestations, treatment results, imaging findings, and histological findings of the liver were analyzed in 39 patients with HVOD caused by SA. Hepatomegaly, liver dysfunction, abdominal effusion, and geographic density changes on liver CT scans were found in all 39 patients. The pathological findings of histological liver examination included swelling and point-like necrosis of liver cells, significant expansion and congestion of the sinuses, endothelial swelling, and wall thickening with incomplete lumen occlusion of small liver vessels. CT geographic density changes were confirmed by histological examination of the liver in 18 patients. Sixteen patients with small amounts of ascites that started within 4 weeks of treatment recovered completely or significantly improved after symptomatic and supportive treatment. However, only 43.75% of the patients with larger amounts of ascites improved following symptomatic and supportive treatment. In conclusion, liver CT examination is a valuable, safe, and noninvasive tool for the diagnosis of HVOD caused by SA. In selected cases, liver CT examination may replace liver biopsy and histological analysis. PMID:26517336

  6. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

    PubMed Central

    Hensman Moss, Davina J.; Poulter, Mark; Beck, Jon; Hehir, Jason; Polke, James M.; Campbell, Tracy; Adamson, Garry; Mudanohwo, Ese; McColgan, Peter; Haworth, Andrea; Wild, Edward J.; Sweeney, Mary G.; Houlden, Henry; Mead, Simon

    2014-01-01

    Objective: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Our objective was to determine whether this mutation causes HD phenocopies. Methods: A cohort of 514 HD phenocopy patients were analyzed for the C9orf72 expansion using repeat primed PCR. In cases where the expansion was found, Southern hybridization was performed to determine expansion size. Clinical case notes were reviewed to determine the phenotype of expansion-positive cases. Results: Ten subjects (1.95%) had the expansion, making it the most common identified genetic cause of HD phenocopy presentations. The size of expansion was not significantly different from that associated with other clinical presentations of C9orf72 expanded cases. The C9orf72 expansion-positive subjects were characterized by the presence of movement disorders, including dystonia, chorea, myoclonus, tremor, and rigidity. Furthermore, the age at onset in this cohort was lower than previously reported for subjects with the C9orf72 expansion and included one case with pediatric onset. Discussion: This study extends the known phenotype of the C9orf72 expansion in both age at onset and movement disorder symptoms. We propose a revised clinico-genetic algorithm for the investigation of HD phenocopy patients based on these data. PMID:24363131

  7. Intestinal Microbiota and Celiac Disease: Cause, Consequence or Co-Evolution?

    PubMed

    Cenit, María Carmen; Olivares, Marta; Codoñer-Franch, Pilar; Sanz, Yolanda

    2015-08-17

    It is widely recognized that the intestinal microbiota plays a role in the initiation and perpetuation of intestinal inflammation in numerous chronic conditions. Most studies report intestinal dysbiosis in celiac disease (CD) patients, untreated and treated with a gluten-free diet (GFD), compared to healthy controls. CD patients with gastrointestinal symptoms are also known to have a different microbiota compared to patients with dermatitis herpetiformis and controls, suggesting that the microbiota is involved in disease manifestation. Furthermore, a dysbiotic microbiota seems to be associated with persistent gastrointestinal symptoms in treated CD patients, suggesting its pathogenic implication in these particular cases. GFD per se influences gut microbiota composition, and thus constitutes an inevitable confounding factor in studies conducted in CD patients. To improve our understanding of whether intestinal dysbiosis is the cause or consequence of disease, prospective studies in healthy infants at family risk of CD are underway. These studies have revealed that the CD host genotype selects for the early colonizers of the infant's gut, which together with environmental factors (e.g., breast-feeding, antibiotics, etc.) could influence the development of oral tolerance to gluten. Indeed, some CD genes and/or their altered expression play a role in bacterial colonization and sensing. In turn, intestinal dysbiosis could promote an abnormal response to gluten or other environmental CD-promoting factors (e.g., infections) in predisposed individuals. Here, we review the current knowledge of host-microbe interactions and how host genetics/epigenetics and environmental factors shape gut microbiota and may influence disease risk. We also summarize the current knowledge about the potential mechanisms of action of the intestinal microbiota and specific components that affect CD pathogenesis.

  8. Hirayama disease, a rare cause of posture related cord compression: a case report from radiological perspective.

    PubMed

    Arooj, Shumaila; Mubarak, Fatima; Azeemuddin, Muhammad; Sajjad, Zafar; Jilani, Wasey

    2013-11-01

    Hirayama Disease is a disease of young adults lying in the age group between twenty to thirty years. It is an extremely uncommon disorder. Its other synonyms are juvenile muscular atrophy of the distal upper extremity (JMADUE) or monomelic amyotrophy (MMA). A previously healthy 25-year-old man presented with gradually increasing weakness in both hands for the past few years. There was neither history of trauma nor family history of neuromuscular disease. MRI was advised. Routine cervical sagittal MR images (Non-flexion or extension) revealed cord flattening and atrophy at C5 to C7 levels.There was evidence of syrinx. Flexion MRI was performed later on. Midline sagittal T1- and T2-weighted images of the cervical spine showed anterior displacement of the cervical cord with marked flattening of cord. The patient was advised to modify his posture, avoid flexion and to apply cervical collar. Physiotherapy was started to improve the tone of muscles. In case of deterioration of symptoms he was advised to consult for surgery. The purpose of this case report is to show the importance of dynamic scan in symptomatic patients especially in their second or third decade with progressive upper limb weakness. Mostly the scanning in neutral posture does not reveal any significant cord compression. Similarly a normal looking thecal sac with preserved anterior and posterior thecal sleeves without disc disease dramatically changes on change of posture. This case shows the importance of dynamic scanning in symptomatic patients with progressive upper limb weakness and with no obvious cause of the cord changes on routine MR images. Cervical collar, physiotherapy and in resistant cases surgery is recommended for management.

  9. Effect of Selenium Supplementation on Recurrent Hyperthyroidism Caused by Graves' Disease: A Prospective Pilot Study.

    PubMed

    Wang, L; Wang, B; Chen, S R; Hou, X; Wang, X F; Zhao, S H; Song, J Q; Wang, Y G

    2016-09-01

    The effect of selenium supplementation on recurrent hyperthyroidism caused by Graves' disease is unclear. Our study aimed to assess the efficacy of selenium supplementation therapy on recurrent Graves' disease. Forty-one patients with recurrent Graves' disease were enrolled in this study. All patients received the routine treatment using methimazole (MMI), while patients allocated to the selenium group received additional selenium therapy for 6 months. The influence of selenium supplementation on the concentrations of thyroid stimulating hormone (TSH), anti-TSH-receptor antibodies (TRAb), free thyroxine (FT4), and free triiodothyronine (FT3) were assessed. The remission rate was also compared between 2 groups. There was no obvious difference in the demographic data and the levels of serum FT4, FT3, TSH, and TRAb between the 2 groups at baseline. Both FT4 and FT3 decreased more at 2 months in the selenium group than the controls, while the TSH level increased more in patients receiving selenium supplementation (p<0.05). The TRAb level was significantly lower in patients receiving selenium supplementation (2.4 IU/l vs. 5.6 IU/l, p=0.04). The percentages of patients with normal TRAb level at 6 months was also significantly higher in the selenium group (19.0 vs. 0%, p=0.016). Kaplan-Meier survival curve showed patients receiving selenium supplementation had a significantly higher rate of remission than controls (Log-rank test p=0.008). In conclusion, selenium supplementation can enhance the effect of antithyroid drugs in patients with recurrent Graves' disease. Randomized trials with large number of participants are needed to validate the finding above.

  10. Disease effects on reproduction can cause population cycles in seasonal environments

    PubMed Central

    Smith, Matthew J; White, Andrew; Sherratt, Jonathan A; Telfer, Sandra; Begon, Michael; Lambin, Xavier

    2008-01-01

    Recent studies of rodent populations have demonstrated that certain parasites can cause juveniles to delay maturation until the next reproductive season. Furthermore, a variety of parasites may share the same host, and evidence is beginning to accumulate showing nonindependent effects of different infections. We investigated the consequences for host population dynamics of a disease-induced period of no reproduction, and a chronic reduction in fecundity following recovery from infection (such as may be induced by secondary infections) using a modified SIR (susceptible, infected, recovered) model. We also included a seasonally varying birth rate as recent studies have demonstrated that seasonally varying parameters can have important effects on long-term host–parasite dynamics. We investigated the model predictions using parameters derived from five different cyclic rodent populations. Delayed and reduced fecundity following recovery from infection have no effect on the ability of the disease to regulate the host population in the model as they have no effect on the basic reproductive rate. However, these factors can influence the long-term dynamics including whether or not they exhibit multiyear cycles. The model predicts disease-induced multiyear cycles for a wide range of realistic parameter values. Host populations that recover relatively slowly following a disease-induced population crash are more likely to show multiyear cycles. Diseases for which the period of infection is brief, but full recovery of reproductive function is relatively slow, could generate large amplitude multiyear cycles of several years in length. Chronically reduced fecundity following recovery can also induce multiyear cycles, in support of previous theoretical studies. When parameterized for cowpox virus in the cyclic field vole populations (Microtus agrestis) of Kielder Forest (northern England), the model predicts that the disease must chronically reduce host fecundity by more than

  11. Influenza A (H10N7) Virus Causes Respiratory Tract Disease in Harbor Seals and Ferrets

    PubMed Central

    Herfst, Sander; Bodewes, Rogier; Pfankuche, Vanessa M.; van de Bildt, Marco W. G.; Seehusen, Frauke; Puff, Christina; Richard, Mathilde; Siebert, Ursula; Lehnert, Kristina; Bestebroer, Theo; Lexmond, Pascal; Fouchier, Ron A. M.; Prenger-Berninghoff, Ellen; Herbst, Werner; Koopmans, Marion; Osterhaus, Albert D. M. E.

    2016-01-01

    Avian influenza viruses sporadically cross the species barrier to mammals, including humans, in which they may cause epidemic disease. Recently such an epidemic occurred due to the emergence of avian influenza virus of the subtype H10N7 (Seal/H10N7) in harbor seals (Phoca vitulina). This epidemic caused high mortality in seals along the north-west coast of Europe and represented a potential risk for human health. To characterize the spectrum of lesions and to identify the target cells and viral distribution, findings in 16 harbor seals spontaneously infected with Seal/H10N7 are described. The seals had respiratory tract inflammation extending from the nasal cavity to bronchi associated with intralesional virus antigen in respiratory epithelial cells. Virus infection was restricted to the respiratory tract. The fatal outcome of the viral infection in seals was most likely caused by secondary bacterial infections. To investigate the pathogenic potential of H10N7 infection for humans, we inoculated the seal virus intratracheally into six ferrets and performed pathological and virological analyses at 3 and 7 days post inoculation. These experimentally inoculated ferrets displayed mild clinical signs, virus excretion from the pharynx and respiratory tract inflammation extending from bronchi to alveoli that was associated with virus antigen expression exclusively in the respiratory epithelium. Virus was isolated only from the respiratory tract. In conclusion, Seal/H10N7 infection in naturally infected harbor seals and experimentally infected ferrets shows that respiratory epithelial cells are the permissive cells for viral replication. Fatal outcome in seals was caused by secondary bacterial pneumonia similar to that in fatal human cases during influenza pandemics. Productive infection of ferrets indicates that seal/H10N7 may possess a zoonotic potential. This outbreak of LPAI from wild birds to seals demonstrates the risk of such occasions for mammals and thus humans

  12. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

    PubMed Central

    Oláhová, Monika; Hardy, Steven A.; Hall, Julie; Yarham, John W.; Haack, Tobias B.; Wilson, William C.; Alston, Charlotte L.; He, Langping; Aznauryan, Erik; Brown, Ruth M.; Brown, Garry K.; Morris, Andrew A. M.; Mundy, Helen; Broomfield, Alex; Barbosa, Ines A.; Simpson, Michael A.; Deshpande, Charu; Moeslinger, Dorothea; Koch, Johannes; Stettner, Georg M.; Bonnen, Penelope E.; Prokisch, Holger; Lightowlers, Robert N.; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M. A.

    2015-01-01

    Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations affecting many different mitochondrial proteins. The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean region of Québec and is caused by a founder mutation in the LRPPRC gene. This encodes the leucine-rich pentatricopeptide repeat domain protein (LRPPRC), which is involved in post-transcriptional regulation of mitochondrial gene expression. Here, we present the clinical and molecular characterization of novel, recessive LRPPRC gene mutations, identified using whole exome and candidate gene sequencing. The 10 patients come from seven unrelated families of UK-Caucasian, UK-Pakistani, UK-Indian, Turkish and Iraqi origin. They resemble the French-Canadian Leigh syndrome patients in having intermittent severe lactic acidosis and early-onset neurodevelopmental problems with episodes of deterioration. In addition, many of our patients have had neonatal cardiomyopathy or congenital malformations, most commonly affecting the heart and the brain. All patients who were tested had isolated COX deficiency in skeletal muscle. Functional characterization of patients’ fibroblasts and skeletal muscle homogenates showed decreased levels of mutant LRPPRC protein and impaired Complex IV enzyme activity, associated with abnormal COX assembly and reduced steady-state levels of numerous oxidative phosphorylation subunits. We also identified a Complex I assembly defect in skeletal muscle, indicating different roles for LRPPRC in post-transcriptional regulation of mitochondrial mRNAs between tissues. Patient fibroblasts showed decreased steady

  13. PROGRESSION OF DISEASES CAUSED BY THE OYSTER PARASITES, PERKINSUS MARINUS AND HAPLOSPORIDIUM NELSONI IN CRASSOSTREA VIRGINICA ON CONSTRUCTED INTERTIDAL REEFS

    EPA Science Inventory

    The progression of diseases caused by the oyster parasites, Perkinsus marinus and Haplosporidium nelsoni, were evaluated by periodic sampling (May 1994 - December 1995) of oysters, Crassostrea virginica, on an artificial reef located in the Piankatank River, Virginia. The infecti...

  14. Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.

    PubMed

    Teimourian, Shahram; Zomorodian, Elham; Badalzadeh, Mohsen; Pouya, Alireza; Kannengiesser, Caroline; Mansouri, Davood; Cheraghi, Taher; Parvaneh, Nima

    2008-06-01

    One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA showed six different novel mutations: deletion of exons 3, 4 and 5; a missense mutation in exon 6 (c.373G>A); a splice site mutation in intron 5 (c.369+1G>A); a frameshift in exon 6 (c.385delGAGC); a frameshift in exon 3 (c.174delG); and a frameshift in exon 4 (c.223delC).

  15. Helminths and helminthoses in Central Europe: general overview and diseases caused by trematodes (flukes).

    PubMed

    Auer, Herbert; Aspöck, Horst

    2014-10-01

    Parasitic helminths and helminthoses do not only occur in the tropics and subtropics but are also prevalent in Austria and other Central European countries. Their prevalence is, however, more or less rather low. In total, we know more than 20 helminth species, which are diagnosed regularly in Austria; some of them occur in Austria autochthonously, some others are acquired abroad and are transferred as souvenirs to Central Europe. The spectrum of helminths described in this overview comprises species of the trematodes (flukes), cestodes (tapeworms), and nematodes (roundworms).The topic "Helminths and helminthoses in Central Europe" is divided into three parts: The first part comprises a short introduction into the field of medical helminthology and is primarily dedicated to the description of trematodes and trematode-caused diseases.

  16. Pinpointing synaptic loss caused by Alzheimer's disease with fMRI

    PubMed Central

    Brickman, Adam M.; Small, Scott A.; Fleisher, Adam

    2010-01-01

    During its earliest stage, before cell loss and independent of amyloid plaques and neurofibrillary tangles, Alzheimer's disease (AD) causes synaptic loss affecting the basal functional properties of neurons. In principle, synaptic loss can be detected by measuring AD-induced changes in basal function, or by measuring stimulus-evoked responses on top of basal changes. Functional magnetic resonance imaging (fMRI) is sensitive to both basal changes and evoked-responses, and there are therefore two experimental approaches in which fMRI can be used to pinpoint synaptic loss in AD. In this review, we will compare and contrast both approaches for pinpointing when and where synaptic loss in AD begins and for monitoring therapeutic efficacy. PMID:19847048

  17. New Rust Disease of Korean Willow (Salix koreensis) Caused by Melampsora yezoensis, Unrecorded Pathogen in Korea

    PubMed Central

    Yun, Yeo Hong; Ahn, Geum Ran; Yoon, Seong Kwon; Kim, Hoo Hyun; Son, Seung Yeol

    2016-01-01

    During the growing season of 2015, leaf specimens with yellow rust spots were collected from Salix koreensis Andersson, known as Korean willow, in riverine areas in Cheonan, Korea. The fungus on S. koreensis was identified as the rust species, Melampsora yezoensis, based on the morphology of urediniospores observed by light and scanning electron microscopy, and the molecular properties of the internal transcribed spacer rDNA region. Pathogenicity tests confirmed that the urediniospores are the causal agent of the rust symptoms on the leaves and young stems of S. koreensis. Here, we report a new rust disease of S. koreensis caused by the rust fungus, M. yezoensis, a previously unrecorded rust pathogen in Korea. PMID:28154494

  18. Kcne2 deletion causes early-onset nonalcoholic fatty liver disease via iron deficiency anemia

    PubMed Central

    Lee, Soo Min; Nguyen, Dara; Anand, Marie; Kant, Ritu; Köhncke, Clemens; Lisewski, Ulrike; Roepke, Torsten K.; Hu, Zhaoyang; Abbott, Geoffrey W.

    2016-01-01

    Nonalcoholic fatty liver disease (NAFLD) is an increasing health problem worldwide, with genetic, epigenetic, and environmental components. Here, we describe the first example of NAFLD caused by genetic disruption of a mammalian potassium channel subunit. Mice with germline deletion of the KCNE2 potassium channel β subunit exhibited NAFLD as early as postnatal day 7. Using mouse genetics, histology, liver damage assays and transcriptomics we discovered that iron deficiency arising from KCNE2-dependent achlorhydria is a major factor in early-onset NAFLD in Kcne2─/─ mice, while two other KCNE2-dependent defects did not initiate NAFLD. The findings uncover a novel genetic basis for NAFLD and an unexpected potential factor in human KCNE2-associated cardiovascular pathologies, including atherosclerosis. PMID:26984260

  19. New Rust Disease of Korean Willow (Salix koreensis) Caused by Melampsora yezoensis, Unrecorded Pathogen in Korea.

    PubMed

    Yun, Yeo Hong; Ahn, Geum Ran; Yoon, Seong Kwon; Kim, Hoo Hyun; Son, Seung Yeol; Kim, Seong Hwan

    2016-12-01

    During the growing season of 2015, leaf specimens with yellow rust spots were collected from Salix koreensis Andersson, known as Korean willow, in riverine areas in Cheonan, Korea. The fungus on S. koreensis was identified as the rust species, Melampsora yezoensis, based on the morphology of urediniospores observed by light and scanning electron microscopy, and the molecular properties of the internal transcribed spacer rDNA region. Pathogenicity tests confirmed that the urediniospores are the causal agent of the rust symptoms on the leaves and young stems of S. koreensis. Here, we report a new rust disease of S. koreensis caused by the rust fungus, M. yezoensis, a previously unrecorded rust pathogen in Korea.

  20. Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome.

    PubMed

    Carney, J Aidan; Young, William F; Stratakis, Constantine A

    2011-09-01

    McCune-Albright syndrome (polyostotic fibrous dysplasia, café-au-lait skin spots, and precocious puberty) is a genetically mosaic disorder with populations of mutant and normal cells in affected organs. Cushing syndrome, a rare feature of the condition, usually affects infants and is the result of corticotropin-independent primary bilateral adrenal disease, usually interpreted as nodular adrenocortical hyperplasia. In this study of 9 patients with Cushing syndrome and McCune-Albright syndrome, light microscopy revealed a characteristic bimorphic pattern of diffuse and nodular hyperplasia and a distinctive form of cortical atrophy with apparent zona glomerulosa hyperplasia in 8 patients, all very young. The pattern could be explained by the presence of a mosaic distribution of mutant and normal cells in the adrenal glands. The findings are different from those in inherited or other forms of genetically caused Cushing syndrome. The ninth patient, aged 17 years, had an adrenal adenoma and diffuse cortical hyperplasia in each adrenal gland.

  1. [Legionnaires' disease with acute renal failure caused by Legionella pneumophilla serogroup 4].

    PubMed

    Hase, Isano; Chibana, Kazuyuki; Ohara, Tetsuya; Takizawa, Hidenori; Furihata, Tomoe; Yamada, Issei; Fukushima, Yasutugu; Ishii, Yoshiki; Fukuda, Takeshi; Koide, Michio; Saitou, Atsushi

    2005-11-01

    A 77-year-old man who had fever and chest pain was admitted to a neighboring hospital on a diagnosis of pneumonia. Chest X-ray film finding deteriorated despite treatment with 2 g cefotaxime per day. Because of accompanying acute renal failure, he was transferred to our hospital. Hemodialysis with intravenous administration of erythromycin and meropenem resulted in recovery from acute renal failure, and his general condition improved. Because of liver dysfunction, erythromycin was changed to pazufloxacin. Although he was negative for Legionella urinary antigen determined with a rapid assay kit, Binax NOW, his serum titer for Legionella pneumophila serogroup 4 was elevated. Finally, a diagnosis of Legionnaires' disease caused by Legionella pneumophila serogroup 4 was established.

  2. Legionnaires' disease caused by Legionella longbeachae in Taiwan, 2006-2010.

    PubMed

    Wei, Sung-Hsi; Tseng, Lei-Ron; Tan, Jei-Kai; Cheng, Chin-Yu; Hsu, Yen-Tao; Cheng, En-Tsung; Lu, Chia-Sheng; Hsiao, Yao-Chuan; Wu, Tsai-Hung; Hsu, Jui-Feng; Liu, Ming-Tsan; Mu, Jung-Jung; Chen, Wan-Chin; Tsou, Tsung-Pei; Hung, Min-Nan; Chiang, Chuen-Sheue

    2014-02-01

    The aim of the present study was to investigate the epidemiology of Legionnaires' disease (LD) caused by Legionella longbeachae in Taiwan during 2006-2010. A total of six cases were identified prospectively, accounting for 1.6% of all laboratory-confirmed LD cases and 4.4% of culture-positive LD cases. All six cases occurred between April and August. The male to female ratio was 0.5. These six LD patients had a higher median age than those with LD due to Legionella pneumophila. Four of the six patients presented with pleural effusion and five survived the infection episode. Only two patients had a potential soil contact history prior to LD onset. The patients resided in divergent geographical areas without a common exposure history. The individual genomic DNA banding patterns of the six L. longbeachae isolates analyzed by pulsed-field gel electrophoresis (PFGE) were unique, supporting the hypothesis that the L. longbeachae infections occurred sporadically.

  3. Myeloproliferative Disease: An Unusual Cause of Raynaud's Phenomenon and Digital Ischaemia

    PubMed Central

    Huws, Gwenan; Lawson, Tom

    2016-01-01

    We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud's phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150–400) and white cells of 16 × 109/L (4–11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause. She received treatment with hydroxycarbamide which normalised her platelet count and led to a complete resolution of her Raynaud's symptoms. Raynaud's phenomenon is a rare manifestation of ET. Myeloproliferative disorders such as ET should be considered in the differential diagnosis of Raynaud's phenomenon and vasculitis. PMID:27895669

  4. Myeloproliferative Disease: An Unusual Cause of Raynaud's Phenomenon and Digital Ischaemia.

    PubMed

    Beynon, Celia; Huws, Gwenan; Lawson, Tom

    2016-01-01

    We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud's phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150-400) and white cells of 16 × 109/L (4-11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause. She received treatment with hydroxycarbamide which normalised her platelet count and led to a complete resolution of her Raynaud's symptoms. Raynaud's phenomenon is a rare manifestation of ET. Myeloproliferative disorders such as ET should be considered in the differential diagnosis of Raynaud's phenomenon and vasculitis.

  5. The chicken or the egg: mitochondrial dysfunction as a cause or consequence of toxicity in Huntington's disease.

    PubMed

    Polyzos, Aris A; McMurray, Cynthia T

    2017-01-01

    Mitochondrial dysfunction and ensuing oxidative damage is typically thought to be a primary cause of Huntington's disease, Alzheimer's disease, and Parkinson disease. There is little doubt that mitochondria (MT) become defective as neurons die, yet whether MT defects are the primary cause or a detrimental consequence of toxicity remains unanswered. Oxygen consumption rate (OCR) and glycolysis provide sensitive and informative measures of the functional status MT and the cells metabolic regulation, yet these measures differ depending on the sample source; species, tissue type, age at measurement, and whether MT are measured in purified form or in a cell. The effects of these various parameters are difficult to quantify and not fully understood, but clearly have an impact on interpreting the bioenergetics of MT or their failure in disease states. A major goal of the review is to discuss issues and coalesce detailed information into a reference table to help in assessing mitochondrial dysfunction as a cause or consequence of Huntington's disease.

  6. HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.

    PubMed

    Chen, Zhiyong; Migeon, Tiffany; Verpont, Marie-Christine; Zaidan, Mohamad; Sado, Yoshikazu; Kerjaschki, Dontscho; Ronco, Pierre; Plaisier, Emmanuelle

    2016-04-01

    Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by mutations in COL4A1 that encodes the α1 chain of collagen IV, a major component of basement membranes. Patients present with cerebral small vessel disease, retinal tortuosity, muscle cramps, and kidney disease consisting of multiple renal cysts, chronic kidney failure, and sometimes hematuria. Mutations producing HANAC syndrome localize within the integrin binding site containing CB3[IV] fragment of the COL4A1 protein. To investigate the pathophysiology of HANAC syndrome, we generated mice harboring the Col4a1 p.Gly498Val mutation identified in a family with the syndrome. Col4a1 G498V mutation resulted in delayed glomerulogenesis and podocyte differentiation without reduction of nephron number, causing albuminuria and hematuria in newborns. The glomerular defects resolved within the first month, but glomerular cysts developed in 3-month-old mutant mice. Abnormal structure of Bowman's capsule was associated with metalloproteinase induction and activation of the glomerular parietal epithelial cells that abnormally expressed CD44,α-SMA, ILK, and DDR1. Inflammatory infiltrates were observed around glomeruli and arterioles. Homozygous Col4a1 G498V mutant mice additionally showed dysmorphic papillae and urinary concentration defects. These results reveal a developmental role for the α1α1α2 collagen IV molecule in the embryonic glomerular basement membrane, affecting podocyte differentiation. The observed association between molecular alteration of the collagenous network in Bowman's capsule of the mature kidney and activation of parietal epithelial cells, matrix remodeling, and inflammation may account for glomerular cyst development and CKD in patients with COL4A1-related disorders.

  7. Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease

    PubMed Central

    1996-01-01

    Chronic granulomatous disease (CGD) is characterized by the failure of phagocytic leukocytes to generate superoxide, needed for the intracellular killing of microorganisms. This is caused by mutations in any one of the four subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. In a rare, autosomal recessive form of CGD, a 67-kD cytosolic component of this enzyme (p67-phox) is missing. We here report on a patient with a mutation in the p67-phox gene that leads to expression of a nonfunctional p67-phox protein. The purified granulocytes of this patient failed to produce superoxide and contained about half of the normal amount of p67-phox. Analysis of the cDNA and genomic DNA of this patient showed that the patient is a compound heterozygote for a triplet nucleotide deletion in the p67-phox gene, predicting an in-frame deletion of lysine 58 in the p67-phox protein and a larger deletion of 11-13 kb in the other allele. Interestingly, the 58Lys deletion in p67-phox disrupts the interaction with p21-rac1, a ras-related protein involved in the activation of the NADPH oxidase. In contrast to normal neutrophils, in which p47-phox and p67-phox translocate to the plasma membrane upon cell activation, the cells of the patient did not show this translocation, indicating that an interaction between p67-phox and p21-rac1 is essential for translocation of these cytosolic proteins and activation of the NADPH oxidase. Moreover, this CGD patient represents the first case of disease caused by a disturbed binding of a ras-related protein to its target protein. PMID:8879195

  8. Activation of cyclic GMP-AMP synthase by self-DNA causes autoimmune diseases.

    PubMed

    Gao, Daxing; Li, Tuo; Li, Xiao-Dong; Chen, Xiang; Li, Quan-Zhen; Wight-Carter, Mary; Chen, Zhijian J

    2015-10-20

    TREX1 is an exonuclease that digests DNA in the cytoplasm. Loss-of-function mutations of TREX1 are linked to Aicardi-Goutieres Syndrome (AGS) and systemic lupus erythematosus (SLE) in humans. Trex1(-/-) mice exhibit autoimmune and inflammatory phenotypes that are associated with elevated expression of interferon (IFN)-induced genes (ISGs). Cyclic GMP-AMP (cGAMP) synthase (cGAS) is a cytosolic DNA sensor that activates the IFN pathway. Upon binding to DNA, cGAS is activated to catalyze the synthesis of cGAMP, which functions as a second messenger that binds and activates the adaptor protein STING to induce IFNs and other cytokines. Here we show that genetic ablation of cGas in Trex1(-/-) mice eliminated all detectable pathological and molecular phenotypes, including ISG induction, autoantibody production, aberrant T-cell activation, and lethality. Even deletion of just one allele of cGas largely rescued the phenotypes of Trex1(-/-) mice. Similarly, deletion of cGas in mice lacking DNaseII, a lysosomal enzyme that digests DNA, rescued the lethal autoimmune phenotypes of the DNaseII(-/-) mice. Through quantitative mass spectrometry, we found that cGAMP accumulated in mouse tissues deficient in Trex1 or DNaseII and that this accumulation was dependent on cGAS. These results demonstrate that cGAS activation causes the autoimmune diseases in Trex1(-/-) and DNaseII(-/-) mice and suggest that inhibition of cGAS may lead to prevention and treatment of some human autoimmune diseases caused by self-DNA.

  9. Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

    PubMed

    Hayashi, Makiko; Abe, Akiko; Murakami, Tatsufumi; Yamao, Satoshi; Arai, Hidee; Hattori, Hideji; Iai, Mizue; Watanabe, Kyoko; Oka, Nobuyuki; Chida, Keiji; Kishikawa, Yumiko; Hayasaka, Kiyoshi

    2013-05-01

    Charcot-Marie-Tooth disease (CMT), the most common hereditary neuropathy, has been classified into two types, demyelinating and axonal types. We previously analyzed the genes causing dominant demyelinating CMT in 227 Japanese patients to identify the genetic background, but could not find any mutations in 110 patients. To investigate the frequency of patients with autosomal recessive demyelinating CMT (CMT4) mutations, we analyzed the coding sequence of known causative genes of CMT4 in 103 demyelinating CMT patients, excluding seven patients owing to lack of specimens. We found one patient with a GDAP1 mutation, one patient with an MTMR2 mutation, two patients with SH3TC2/KIAA1985 mutations and three patients with FGD4 mutations. Twelve patients, including five previously detected patients with PRX mutations, were diagnosed as CMT4, accounting for 5.5% of demyelinating CMT. In the patient with GDAP1 mutation, only one mutation inherited from his mother was detected by genomic sequencing. Analysis by reverse transcription polymerase chain reaction using messenger RNA (mRNA) from the patient's leukocytes revealed the absence of transcription from the allele inherited from his father, suggesting the existence of one more mutation leading to a lack or destabilization of mRNA. Most patients carrying CMT4 gene mutations present with early-onset and slowly progressive symptoms, which may be associated with the function of mutants. We could not identify the disease-causing gene in 96 patients (about 45%). Further studies including studies with next-generation sequencers will be required to identify the causative gene in Japanese CMT.

  10. Infection dynamics in frog populations with different histories of decline caused by a deadly disease.

    PubMed

    Sapsford, Sarah J; Voordouw, Maarten J; Alford, Ross A; Schwarzkopf, Lin

    2015-12-01

    Pathogens can drive host population dynamics. Chytridiomycosis is a fungal disease of amphibians that is caused by the fungus Batrachochytrium dendrobatidis (Bd). This pathogen has caused declines and extinctions in some host species whereas other host species coexist with Bd without suffering declines. In the early 1990s, Bd extirpated populations of the endangered common mistfrog, Litoria rheocola, at high-elevation sites, while populations of the species persisted at low-elevation sites. Today, populations have reappeared at many high-elevation sites where they presently co-exist with the fungus. We conducted a capture-mark-recapture (CMR) study of six populations of L. rheocola over 1 year, at high and low elevations. We used multistate CMR models to determine which factors (Bd infection status, site type, and season) influenced rates of frog survival, recapture, infection, and recovery from infection. We observed Bd-induced mortality of individual frogs, but did not find any significant effect of Bd infection on the survival rate of L. rheocola at the population level. Survival and recapture rates depended on site type and season. Infection rate was highest in winter when temperatures were favourable for pathogen growth, and differed among site types. The recovery rate was high (75.7-85.8%) across seasons, and did not differ among site types. The coexistence of L. rheocola with Bd suggests that (1) frog populations are becoming resistant to the fungus, (2) Bd may have evolved lower virulence, or (3) current environmental conditions may be inhibiting outbreaks of the fatal disease.

  11. Herpes Simplex Virus 1 Reactivates from Autonomic Ciliary Ganglia Independently from Sensory Trigeminal Ganglia To Cause Recurrent Ocular Disease

    PubMed Central

    Lee, Sungseok; Ives, Angela M.

    2015-01-01

    ABSTRACT Herpes simplex virus 1 (HSV-1) and HSV-2 establish latency in sensory and autonomic neurons after ocular or genital infection, but their recurrence patterns differ. HSV-1 reactivates from latency to cause recurrent orofacial disease, and while HSV-1 also causes genital lesions, HSV-2 recurs more efficiently in the genital region and rarely causes ocular disease. The mechanisms regulating these anatomical preferences are unclear. To determine whether differences in latent infection and reactivation in autonomic ganglia contribute to differences in HSV-1 and HSV-2 anatomical preferences for recurrent disease, we compared HSV-1 and HSV-2 clinical disease, acute and latent viral loads, and viral gene expression in sensory trigeminal and autonomic superior cervical and ciliary ganglia in a guinea pig ocular infection model. HSV-2 produced more severe acute disease, correlating with higher viral DNA loads in sensory and autonomic ganglia, as well as higher levels of thymidine kinase expression, a marker of productive infection, in autonomic ganglia. HSV-1 reactivated in ciliary ganglia, independently from trigeminal ganglia, to cause more frequent recurrent symptoms, while HSV-2 replicated simultaneously in autonomic and sensory ganglia to cause more persistent disease. While both HSV-1 and HSV-2 expressed the latency-associated transcript (LAT) in the trigeminal and superior cervical ganglia, only HSV-1 expressed LAT in ciliary ganglia, suggesting that HSV-2 is not reactivation competent or does not fully establish latency in ciliary ganglia. Thus, differences in replication and viral gene expression in autonomic ganglia may contribute to differences in HSV-1 and HSV-2 acute and recurrent clinical disease. IMPORTANCE Herpes simplex virus 1 (HSV-1) and HSV-2 establish latent infections, from which the viruses reactivate to cause recurrent disease throughout the life of the host. However, the viruses exhibit different manifestations and frequencies of recurrent

  12. A nairovirus isolated from African bats causes haemorrhagic gastroenteritis and severe hepatic disease in mice.

    PubMed

    Ishii, Akihiro; Ueno, Keisuke; Orba, Yasuko; Sasaki, Michihito; Moonga, Ladslav; Hang'ombe, Bernard M; Mweene, Aaron S; Umemura, Takashi; Ito, Kimihito; Hall, William W; Sawa, Hirofumi

    2014-12-02

    Bats can carry important zoonotic pathogens. Here we use a combination of next-generation sequencing and classical virus isolation methods to identify novel nairoviruses from bats captured from a cave in Zambia. This nairovirus infection is highly prevalent among giant leaf-nosed bats, Hipposideros gigas (detected in samples from 16 individuals out of 38). Whole-genome analysis of three viral isolates (11SB17, 11SB19 and 11SB23) reveals a typical bunyavirus tri-segmented genome. The strains form a single phylogenetic clade that is divergent from other known nairoviruses, and are hereafter designated as Leopards Hill virus (LPHV). When i.p. injected into mice, the 11SB17 strain causes only slight body weight loss, whereas 11SB23 produces acute and lethal disease closely resembling that observed with Crimean-Congo Haemorrhagic Fever virus in humans. We believe that our LPHV mouse model will be useful for research on the pathogenesis of nairoviral haemorrhagic disease.

  13. A nairovirus isolated from African bats causes haemorrhagic gastroenteritis and severe hepatic disease in mice

    PubMed Central

    Ishii, Akihiro; Ueno, Keisuke; Orba, Yasuko; Sasaki, Michihito; Moonga, Ladslav; Hang’ombe, Bernard M.; Mweene, Aaron S.; Umemura, Takashi; Ito, Kimihito; Hall, William W.; Sawa, Hirofumi

    2014-01-01

    Bats can carry important zoonotic pathogens. Here we use a combination of next-generation sequencing and classical virus isolation methods to identify novel nairoviruses from bats captured from a cave in Zambia. This nairovirus infection is highly prevalent among giant leaf-nosed bats, Hipposideros gigas (detected in samples from 16 individuals out of 38). Whole-genome analysis of three viral isolates (11SB17, 11SB19 and 11SB23) reveals a typical bunyavirus tri-segmented genome. The strains form a single phylogenetic clade that is divergent from other known nairoviruses, and are hereafter designated as Leopards Hill virus (LPHV). When i.p. injected into mice, the 11SB17 strain causes only slight body weight loss, whereas 11SB23 produces acute and lethal disease closely resembling that observed with Crimean–Congo Haemorrhagic Fever virus in humans. We believe that our LPHV mouse model will be useful for research on the pathogenesis of nairoviral haemorrhagic disease. PMID:25451856

  14. Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.

    PubMed

    Ozkara, Hatice Asuman; Sandhoff, Konrad

    2003-04-01

    Two homoallelic mutations have recently been identified in the alpha-subunit of hexosaminidase A (EC 3.2.1.52) causing the infantile form of Tay-Sachs disease in Turkish patients. Both of these mutations, a 12 bp deletion (1096-1107 or 1098-1108 or 1099-1109) in exon 10 and a point mutation (G1362 to A, Gly454 to Asp) in exon 12, are located in the catalytic domain of the hexosaminidase alpha-chain. In order to determine whether these mutations affect the function of the catalytic domain or result in an instable protein, both mutant cDNAs were overexpressed in COS-1 cells. As judged by Western blotting, transfections of wild-type cDNA produced pro-alpha-chain and mature alpha-chain in parallel with a fivefold increase in cellular hexosaminidase activity using the synthetic substrate 4-methylumbelliferyl beta-N-acetylglucosamine 6-sulfate (MUGS). However, both mutants produced only pro-alpha-chains, although no mature form or detectable hexosaminidase activity towards two different synthetic substrates was observed. These data are consistent with the biochemical phenotype of infantile Tay-Sachs disease. We conclude that the overexpressed mutant pro-alpha-chains were misfolded and could not undergo further proteolytic processing to the active form of the enzyme in the lysosome.

  15. Blood-brain barrier dysfunction as a cause and consequence of Alzheimer's disease.

    PubMed

    Erickson, Michelle A; Banks, William A

    2013-10-01

    The blood-brain barrier (BBB) plays critical roles in the maintenance of central nervous system (CNS) homeostasis. Dysfunction of the BBB occurs in a number of CNS diseases, including Alzheimer's disease (AD). A prevailing hypothesis in the AD field is the amyloid cascade hypothesis that states that amyloid-β (Aβ) deposition in the CNS initiates a cascade of molecular events that cause neurodegeneration, leading to AD onset and progression. In this review, the participation of the BBB in the amyloid cascade and in other mechanisms of AD neurodegeneration will be discussed. We will specifically focus on three aspects of BBB dysfunction: disruption, perturbation of transporters, and secretion of neurotoxic substances by the BBB. We will also discuss the interaction of the BBB with components of the neurovascular unit in relation to AD and the potential contribution of AD risk factors to aspects of BBB dysfunction. From the results discussed herein, we conclude that BBB dysfunction contributes to AD through a number of mechanisms that could be initiated in the presence or absence of Aβ pathology.

  16. Muscle dysfunction in chronic obstructive pulmonary disease: update on causes and biological findings

    PubMed Central

    Pascual, Sergi; Casadevall, Carme; Orozco-Levi, Mauricio; Barreiro, Esther

    2015-01-01

    Respiratory and/or limb muscle dysfunction, which are frequently observed in chronic obstructive pulmonary disease (COPD) patients, contribute to their disease prognosis irrespective of the lung function. Muscle dysfunction is caused by the interaction of local and systemic factors. The key deleterious etiologic factors are pulmonary hyperinflation for the respiratory muscles and deconditioning secondary to reduced physical activity for limb muscles. Nonetheless, cigarette smoke, systemic inflammation, nutritional abnormalities, exercise, exacerbations, anabolic insufficiency, drugs and comorbidities also seem to play a relevant role. All these factors modify the phenotype of the muscles, through the induction of several biological phenomena in patients with COPD. While respiratory muscles improve their aerobic phenotype (percentage of oxidative fibers, capillarization, mitochondrial density, enzyme activity in the aerobic pathways, etc.), limb muscles exhibit the opposite phenotype. In addition, both muscle groups show oxidative stress, signs of damage and epigenetic changes. However, fiber atrophy, increased number of inflammatory cells, altered regenerative capacity; signs of apoptosis and autophagy, and an imbalance between protein synthesis and breakdown are rather characteristic features of the limb muscles, mostly in patients with reduced body weight. Despite that significant progress has been achieved in the last decades, full elucidation of the specific roles of the target biological mechanisms involved in COPD muscle dysfunction is still required. Such an achievement will be crucial to adequately tackle with this relevant clinical problem of COPD patients in the near-future. PMID:26623119

  17. Characterization of a novel Canine distemper virus causing disease in wildlife.

    PubMed

    Pope, Jenny P; Miller, Debra L; Riley, Matthew C; Anis, Eman; Wilkes, Rebecca P

    2016-09-01

    Canine distemper virus (CDV) is a common cause of a multisystemic disease in both domestic dogs and wildlife species, including raccoons and foxes. Outbreaks of CDV in domestic dogs in eastern Tennessee have occurred since 2012, and it was determined that these outbreaks resulted from a novel genotype of CDV. We hypothesized that this virus is also infecting area wildlife and may be a source of the virus for these outbreaks in dogs. From 2013 to 2014, autopsies were performed and tissues collected from raccoons (Procyon lotor; n = 50) and gray foxes (Urocyon cinereoargenteus; n = 8) for CDV testing. A real-time reverse transcription PCR was used to document the presence of CDV in tissue samples, and a portion of the virus was subsequently sequenced for phylogenetic analysis. A high percentage of wildlife, both with (86%) and without (55%) clinical signs, tested positive for CDV, with the majority (77%) testing positive for the novel genotype. Microscopic findings, including syncytia in the lungs and viral inclusion bodies in urothelium, astrocytes, neurons, and bronchiolar epithelium, were also consistent with canine distemper. Minimal inflammation in the central nervous system of affected animals was indicative of the acute neurologic form of the disease. Pneumonia and parasitism were also commonly found in CDV-infected animals. Based on these results, CDV appears to be prevalent in eastern Tennessee wildlife. Subclinical or clinically recovered shedders are a potential source of this novel genotype for domestic dogs, and this genotype is genetically distinct from vaccine strains.

  18. Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.

    PubMed

    Griese, M; Brasch, F; Aldana, V R; Cabrera, M M; Goelnitz, U; Ikonen, E; Karam, B J; Liebisch, G; Linder, M D; Lohse, P; Meyer, W; Schmitz, G; Pamir, A; Ripper, J; Rolfs, A; Schams, A; Lezana, F J

    2010-02-01

    Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid and the synthesis of an aberrant, larger sized protein of around 28 kDa. Protein expression was strongly reduced also in alveolar macrophages. The infant developed failure to thrive and tachypnea. Lung lavage, computer tomography, and histology showed typical signs of pulmonary alveolar proteinosis with an abnormal intraalveolar accumulation of surfactant as well as macrophages. An NPC2-hypomorph animal model also showed pulmonary alveolar proteinosis and accumulation of macrophages in the lung, liver, and spleen long before the mice died. Due to the elevation of cholesterol, the surfactant had an abnormal composition and function. Despite the removal of large amounts of surfactant from the lungs by therapeutic lung lavages, this treatment was only temporarily successful and the infant died of respiratory failure. Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol.

  19. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.

    PubMed

    Cook, J R; Carta, L; Galatioto, J; Ramirez, F

    2015-01-01

    Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with MFS, the pathogenic contribution of dysregulated transforming growth factor β (TGFβ) signaling. They include Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome and syndromic thoracic aortic aneurysms. Unlike the causal association of MFS with mutations in an extracellular matrix protein (ECM), the aforementioned conditions are due to defects in components of the TGFβ pathway. While TGFβ antagonism is being considered as a potential new therapy for these heritable syndromes, several points still need to be clarified in relevant animal models before this strategy could be safely applied to patients. Among others, unresolved issues include whether elevated TGFβ signaling is responsible for all MFS manifestations and is the common trigger of disease in MFS and related conditions. The scope of our review is to highlight the clinical and experimental findings that have forged our understanding of the natural history and molecular pathogenesis of cardiovascular manifestations in this group of syndromic conditions.

  20. [Per os given bacteriophages changes the clinical course of diseases caused by bacterial agents in children].

    PubMed

    Pagava, K I; Metskhvarishvili, G J; Korineli, I A; Gongadze, T B

    2012-10-01

    The aim of the study was to reveal the possible effect of perorally given bacteriophages on the clinical course of diseases caused by infectious agents in children. The complex therapy with inclusion of bacteriophages was performed in 85 children aged from 1 week to 15 years, 36 girls, 47 boys with following diagnoses: sepsis, bacterial diarrhea, urinary tract infections, bacterial infections of upper respiratory ways, bacterial pneumonia. For every case an appropriate analoguous control was matched. Thus this open clinical trial was carried out according to the Case Control Study design. Clinical and paraclinical markers specific for different diseases and integrated index of the gravitidy of condition. defined by the method of multicriterial analyzis with usage of Fuzzy logic approaches were revealed in dynamics. It was established that by peroral treatment with commercial bacteriophages the positive trends of investigated parameters had place. The improvement of the integrated index of gravitidy was most pronounced. We suppose that obtaining of more convincing evidences of the clinical value of bacteriophagetherapy the further studies in the more number of patients with the usage of the generally accepted double blind method should be conducted.

  1. Molecular genetic analysis and evolution of begomoviruses and betasatellites causing yellow mosaic disease of bhendi.

    PubMed

    Kumar, R Vinoth; Prasanna, H C; Singh, A K; Ragunathan, D; Garg, G K; Chakraborty, S

    2017-04-01

    In India, Bhendi yellow vein mosaic disease (BYVMD) is one of the most economically important diseases of bhendi/okra and is caused by a complex of monopartite begomovirus (Bhendi yellow vein mosaic virus-BYVMV) and betasatellite (Bhendi yellow vein betasatellite-BYVB). In this study, we have analyzed the role of possible evolutionary factors involved in the evolution of BYVMV and BYVB isolates. Evidence of inter-species and inter-strain recombination events was detected among the viral isolates, and majority of these recombinant isolates possess microsatellites in their genome. Recombination analysis suggests that cotton-infecting and bhendi-infecting begomoviruses probably share a recent common ancestor. In addition to genetic differentiation and gene flow, high degree of genetic variability was detected among the viral population. A strong purifying selection seems to be acting on the viral coding regions. The nucleotide substitution rate of V1 gene (for BYVMV) and βC1 gene (for BYVB) was estimated to be 7.55 × 10(-4) and 2.25 × 10(-3) nucleotide substitutions/site/year, respectively. The present study underlines that the evolution of BYVMD-associated viral components is driven by selection acting on the genetic variation generated by recombination and mutation.

  2. Fluoroquinolone resistance of Streptococcus pneumoniae isolates causing invasive disease: special focus on zabofloxacin.

    PubMed

    Kim, Tark; Park, Su-Jin; Chong, Yong Pil; Park, Ki-Ho; Lee, Yu-Mi; Hong, Hyo-Lim; Kim, Hee Seung; Kim, Eun Sil; Lee, Sungkyoung; Choi, Dong Rack; Kim, Sung-Han; Jeong, Jin-Yong; Lee, Sang-Oh; Choi, Sang-Ho; Woo, Jun Hee; Kim, Yang Soo

    2016-10-01

    The present study examined the in vitro activity of various antibiotics including zabofloxacin, against isolates responsible for invasive pneumococcal diseases. Between 1997 and 2008, a total of 208 isolates were collected from sterile fluids, including blood (n=196, 94.2%), pleural fluid (n=5, 2.4%), cerebrospinal fluid (n=5, 2.4%), and ascites (n=2, 1.0%). Zabofloxacin showed the lowest MIC50 (0.015μg/mL) and MIC90 (0.025μg/mL) values of all the tested antibiotics. Rates of isolates resistant to penicillin (MIC ≥8μg/mL), ceftriaxone (MIC ≥4μg/mL) and levofloxacin (MIC ≥8μg/mL) were 3.4%, 0.4% and 2.0%, respectively. Four isolates (2.0%) were resistant to levofloxacin, and zabofloxacin showed low MICs (range, 0.025-0.125μg/mL). Zabofloxacin shows potent in vitro activity against S. pneumoniae isolates that caused invasive disease, even strains that are resistant to levofloxacin.

  3. Chlamydial infections of fish: diverse pathogens and emerging causes of disease in aquaculture species.

    PubMed

    Stride, M C; Polkinghorne, A; Nowak, B F

    2014-05-14

    Chlamydial infections of fish are emerging as an important cause of disease in new and established aquaculture industries. To date, epitheliocystis, a skin and gill disease associated with infection by these obligate intracellular pathogens, has been described in over 90 fish species, including hosts from marine and fresh water environments. Aided by advances in molecular detection and typing, recent years have seen an explosion in the description of these epitheliocystis-related chlamydial pathogens of fish, significantly broadening our knowledge of the genetic diversity of the order Chlamydiales. Remarkably, in most cases, it seems that each new piscine host studied has revealed the presence of a phylogenetically unique and novel chlamydial pathogen, providing researchers with a fascinating opportunity to understand the origin, evolution and adaptation of their traditional terrestrial chlamydial relatives. Despite the advances in this area, much still needs to be learnt about the epidemiology of chlamydial infections in fish if these pathogens are to be controlled in farmed environments. The lack of in vitro methods for culturing of chlamydial pathogens of fish is a major hindrance to this field. This review provides an update on our current knowledge of the taxonomy and diversity of chlamydial pathogens of fish, discusses the impact of these infections on the health, and highlights further areas of research required to understand the biology and epidemiology of this important emerging group of fish pathogens of aquaculture species.

  4. Chlamydial infections of fish: diverse pathogens and emerging causes of disease in aquaculture species.

    PubMed

    Stride, M C; Polkinghome, A; Nowak, B F

    2014-06-25

    Chlamydial infections of fish are emerging as an important cause of disease in new and established aquaculture industries. To date, epitheliocystis, a skin and gill disease associated with infection by these obligate intracellular pathogens, has been described in over 90 fish species, including hosts from marine and fresh water environments. Aided by advances in molecular detection and typing, recent years have seen an explosion in the description of these epitheliocystis-related chlamydial pathogens of fish, significantly broadening our knowledge of the genetic diversity of the order Chlamydiales. Remarkably, in most cases, it seems that each new piscine host studied has revealed the presence of a phylogenetically unique and novel chlamydial pathogen, providing researchers with a fascinating opportunity to understand the origin, evolution and adaptation of their traditional terrestrial chlamydial relatives. Despite the advances in this area, much still needs to be learnt about the epidemiology of chlamydial infections in fish if these pathogens are to be controlled in farmed environments. The lack of in vitro methods for culturing of chlamydial pathogens of fish is a major hindrance to this field. This review provides an update on our current knowledge of the taxonomy and diversity of chlamydial pathogens of fish, discusses the impact of these infections on the health, and highlights further areas of research required to understand the biology and epidemiology of this important emerging group of fish pathogens of aquaculture species.

  5. Genotypes of the Enterovirus Causing Hand Foot and Mouth Disease in Shanghai, China, 2012-2013.

    PubMed

    Xu, Menghua; Su, Liyun; Cao, Lingfeng; Zhong, Huaqing; Dong, Niuniu; Dong, Zuoquan; Xu, Jin

    2015-01-01

    Sporadic HFMD (hand foot and mouth disease, HFMD) cases and outbreaks caused by etiologic agents other than EV71 and CA16 have increased globally. We conducted this study to investigate the prevalence and genetic characteristics of enteroviruses, especially the non-EV71 and non-CA16 enteroviruses, causing HFMD in Shanghai. Clinical specimens were collected from patients with a diagnosis of HFMD. A partial length of VP1 was amplified with RT-PCR and subjected to direct sequencing. Phylogenetic analyses were performed using MEGA 5.0. The ages of the HFMD cases ranged from 3 to 96 months, and the male/female ratio was 1.41. The median hospital stay was 2.96 days. Up to 18.0% of patients had neurologic system complications such as encephalitis, meningoencephalitis or meningitis. Of the 480 samples, 417 were positive for enterovirus (86.9%) with RT-PCR. A total of 13 enterovirus genotypes were identified. The most frequent genotypes were CA6 (31.9%), EV71 (30.6%), CA16 (8.8%) and CA10 (7.5%). Infections with CA6, EV71, CA16 and CA10 were prevalent throughout the years of study, while the proportion of CA6 notably increased from Sep. 2012 to Dec. 2013. Phylogenetic analyses showed that EV71 strains belonged to the C4a subgenogroup and CA16 was identified as B1b subgenogroup. The CA6 strains were assigned to genogroup F, whereas the CA10 strains were assigned to genogroup D. Patients infected with CA6 were typically younger, had a shorter hospital stay and had a lower incidence of neurologic system complications when compared to patients infected with EV71. Our study demonstrates that the enterovirus genotypes causing HFMD were diversified, and there was an increasing prevalence of the non-EV71 and non-CA16 enteroviruses from 2012 to 2013. CA6 was the most predominant pathogen causing HFMD from Sep. 2012 to Dec. 2013, and it often caused relatively mild HFMD symptoms. Most severe HFMD cases were associated with EV71 infection.

  6. Antimicrobial resistance in Salmonella that caused foodborne disease outbreaks: United States, 2003-2012.

    PubMed

    Brown, A C; Grass, J E; Richardson, L C; Nisler, A L; Bicknese, A S; Gould, L H

    2017-03-01

    Although most non-typhoidal Salmonella illnesses are self-limiting, antimicrobial treatment is critical for invasive infections. To describe resistance in Salmonella that caused foodborne outbreaks in the United States, we linked outbreaks submitted to the Foodborne Disease Outbreak Surveillance System to isolate susceptibility data in the National Antimicrobial Resistance Monitoring System. Resistant outbreaks were defined as those linked to one or more isolates with resistance to at least one antimicrobial drug. Multidrug resistant (MDR) outbreaks had at least one isolate resistant to three or more antimicrobial classes. Twenty-one per cent (37/176) of linked outbreaks were resistant. In outbreaks attributed to a single food group, 73% (16/22) of resistant outbreaks and 46% (31/68) of non-resistant outbreaks were attributed to foods from land animals (P < 0·05). MDR Salmonella with clinically important resistance caused 29% (14/48) of outbreaks from land animals and 8% (3/40) of outbreaks from plant products (P < 0·01). In our study, resistant Salmonella infections were more common in outbreaks attributed to foods from land animals than outbreaks from foods from plants or aquatic animals. Antimicrobial susceptibility data on isolates from foodborne Salmonella outbreaks can help determine which foods are associated with resistant infections.

  7. Chronic aluminum intake causes Alzheimer's disease: applying Sir Austin Bradford Hill's causality criteria.

    PubMed

    Walton, J R

    2014-01-01

    Industrialized societies produce many convenience foods with aluminum additives that enhance various food properties and use alum (aluminum sulfate or aluminum potassium sulfate) in water treatment to enable delivery of large volumes of drinking water to millions of urban consumers. The present causality analysis evaluates the extent to which the routine, life-long intake, and metabolism of aluminum compounds can account for Alzheimer's disease (AD), using Austin Bradford Hill's nine epidemiological and experimental causality criteria, including strength of the relationship, consistency, specificity, temporality, dose-dependent response, biological rationale, coherence with existing knowledge, experimental evidence, and analogy. Mechanisms that underlie the risk of low concentrations of aluminum relate to (1) aluminum's absorption rates, allowing the impression that aluminum is safe to ingest and as an additive in food and drinking water treatment, (2) aluminum's slow progressive uptake into the brain over a long prodromal phase, and (3) aluminum's similarity to iron, in terms of ionic size, allows aluminum to use iron-evolved mechanisms to enter the highly-active, iron-dependent cells responsible for memory processing. Aluminum particularly accumulates in these iron-dependent cells to toxic levels, dysregulating iron homeostasis and causing microtubule depletion, eventually producing changes that result in disconnection of neuronal afferents and efferents, loss of function and regional atrophy consistent with MRI findings in AD brains. AD is a human form of chronic aluminum neurotoxicity. The causality analysis demonstrates that chronic aluminum intake causes AD.

  8. VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease

    PubMed Central

    Guo, Xing; Sun, XiaoYan; Hu, Di; Wang, Ya-Juan; Fujioka, Hisashi; Vyas, Rajan; Chakrapani, Sudha; Joshi, Amit Umesh; Luo, Yu; Mochly-Rosen, Daria; Qi, Xin

    2016-01-01

    Mutant Huntingtin (mtHtt) causes neurodegeneration in Huntington's disease (HD) by evoking defects in the mitochondria, but the underlying mechanisms remains elusive. Our proteomic analysis identifies valosin-containing protein (VCP) as an mtHtt-binding protein on the mitochondria. Here we show that VCP is selectively translocated to the mitochondria, where it is bound to mtHtt in various HD models. Mitochondria-accumulated VCP elicits excessive mitophagy, causing neuronal cell death. Blocking mtHtt/VCP mitochondrial interaction with a peptide, HV-3, abolishes VCP translocation to the mitochondria, corrects excessive mitophagy and reduces cell death in HD mouse- and patient-derived cells and HD transgenic mouse brains. Treatment with HV-3 reduces behavioural and neuropathological phenotypes of HD in both fragment- and full-length mtHtt transgenic mice. Our findings demonstrate a causal role of mtHtt-induced VCP mitochondrial accumulation in HD pathogenesis and suggest that the peptide HV-3 might be a useful tool for developing new therapeutics to treat HD. PMID:27561680

  9. VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease.

    PubMed

    Guo, Xing; Sun, XiaoYan; Hu, Di; Wang, Ya-Juan; Fujioka, Hisashi; Vyas, Rajan; Chakrapani, Sudha; Joshi, Amit Umesh; Luo, Yu; Mochly-Rosen, Daria; Qi, Xin

    2016-08-26

    Mutant Huntingtin (mtHtt) causes neurodegeneration in Huntington's disease (HD) by evoking defects in the mitochondria, but the underlying mechanisms remains elusive. Our proteomic analysis identifies valosin-containing protein (VCP) as an mtHtt-binding protein on the mitochondria. Here we show that VCP is selectively translocated to the mitochondria, where it is bound to mtHtt in various HD models. Mitochondria-accumulated VCP elicits excessive mitophagy, causing neuronal cell death. Blocking mtHtt/VCP mitochondrial interaction with a peptide, HV-3, abolishes VCP translocation to the mitochondria, corrects excessive mitophagy and reduces cell death in HD mouse- and patient-derived cells and HD transgenic mouse brains. Treatment with HV-3 reduces behavioural and neuropathological phenotypes of HD in both fragment- and full-length mtHtt transgenic mice. Our findings demonstrate a causal role of mtHtt-induced VCP mitochondrial accumulation in HD pathogenesis and suggest that the peptide HV-3 might be a useful tool for developing new therapeutics to treat HD.

  10. Geosmithia argillacea: An Emerging Cause of Invasive Mycosis in Human Chronic Granulomatous Disease

    PubMed Central

    Challipalli, Malliswari; Anderson, Victoria; Shea, Yvonne R.; Marciano, Beatriz; Hilligoss, Dianne; Marquesen, Martha; DeCastro, Rosamma; Liu, Yen-chun; Sutton, Deanna A.; Wickes, Brian L.; Kammeyer, Patricia L.; Sigler, Lynne; Sullivan, Kathleen; Kang, Elizabeth M.; Malech, Harry L.; Holland, Steven M.; Zelazny, Adrian M.

    2011-01-01

    Background. Chronic granulomatous disease (CGD) is an inherited disorder of the nicotinamide adenine dinucleotide phosphate oxidase that leads to defective production of microbicidal superoxide and other oxidative radicals, resulting in increased susceptibility to invasive infections, especially those due to fungi. Methods. Geosmithia argillacea was identified from cultured isolates by genomic sequencing of the internal transcribed spacer region. Isolates previously identified as Paecilomyces variotii, a filamentous fungus closely resembling G. argillacea, were also examined. Results. We identified G. argillacea as the cause of invasive mycosis in 7 CGD patients. In 5 cases, the fungus had been previously identified morphologically as P. variotii. All patients had pulmonary lesions; 1 had disseminated lesions following inhalational pneumonia. Infections involved the chest wall and contiguous ribs in 2 patients and disseminated to the brain in 1 patient. Four patients with pneumonia underwent surgical intervention. All patients responded poorly to medical treatment, and 3 died. Conclusions. We report the first cases of invasive mycosis caused by G. argillacea in CGD patients. G. argillacea infections in CGD are often refractory and severe with a high fatality rate. Surgical intervention has been effective in some cases. G. argillacea is a previously underappreciated and frequently misidentified pathogen in CGD that should be excluded when P. variotii is identified morphologically. PMID:21367720

  11. Transcriptome Remodeling Contributes to Epidemic Disease Caused by the Human Pathogen Streptococcus pyogenes

    PubMed Central

    Beres, Stephen B.; Kachroo, Priyanka; Nasser, Waleed; Olsen, Randall J.; Zhu, Luchang; Flores, Anthony R.; de la Riva, Ivan; Paez-Mayorga, Jesus; Jimenez, Francisco E.; Cantu, Concepcion; Vuopio, Jaana; Jalava, Jari; Kristinsson, Karl G.; Gottfredsson, Magnus; Corander, Jukka; Fittipaldi, Nahuel; Di Luca, Maria Chiara; Petrelli, Dezemona; Vitali, Luca A.; Raiford, Annessa; Jenkins, Leslie

    2016-01-01

    ABSTRACT For over a century, a fundamental objective in infection biology research has been to understand the molecular processes contributing to the origin and perpetuation of epidemics. Divergent hypotheses have emerged concerning the extent to which environmental events or pathogen evolution dominates in these processes. Remarkably few studies bear on this important issue. Based on population pathogenomic analysis of 1,200 Streptococcus pyogenes type emm89 infection isolates, we report that a series of horizontal gene transfer events produced a new pathogenic genotype with increased ability to cause infection, leading to an epidemic wave of disease on at least two continents. In the aggregate, these and other genetic changes substantially remodeled the transcriptomes of the evolved progeny, causing extensive differential expression of virulence genes and altered pathogen-host interaction, including enhanced immune evasion. Our findings delineate the precise molecular genetic changes that occurred and enhance our understanding of the evolutionary processes that contribute to the emergence and persistence of epidemically successful pathogen clones. The data have significant implications for understanding bacterial epidemics and for translational research efforts to blunt their detrimental effects. PMID:27247229

  12. Performance-based regulation: enterprise responsibility for reducing death, injury, and disease caused by consumer products.

    PubMed

    Sugarman, Stephen D

    2009-12-01

    This article offers a bold new idea for confronting the staggering level of death, injury, and disease caused by five consumer products: cigarettes, alcohol, guns, junk food, and motor vehicles. Business leaders try to frame these negative outcomes as "collateral damage" that is someone else's problem. That framing not only is morally objectionable but also overlooks the possibility that, with proper prodding, industry could substantially lessen these public health disasters. I seek to reframe the public perception of who is responsible and propose to deploy a promising approach called "performance-based regulation" to combat the problem. Performance-based regulation would impose on manufacturers a legal obligation to reduce the negative social costs of their products. Rather than involving them in litigation or forcing them to operate differently (as "command-and-control" regimes do), performance-based regulation allows the firms to determine how best to decrease bad public health consequences. Like other public health strategies, performance-based regulation focuses on those who are far more likely than individual consumers to achieve real gains. Analogous to a tax on causing harm that exceeds a threshold level, performance-based regulation seeks to harness private initiative in pursuit of the public good.

  13. Gender differences and disparities in all-cause and coronary heart disease mortality: epidemiological aspects

    PubMed Central

    Barrett-Connor, Elizabeth

    2013-01-01

    This overview is primarily concerned with large recent prospective cohort studies of adult populations, not patients, because the latter studies are confounded by differences in medical and surgical management for men vs. women. When early papers are uniquely informative they are also included. Because the focus is on epidemiology, details of age, sex, sample size, and source as well as study methods are provided. Usually the primary outcomes were all-cause or coronary heart disease (CHD) mortality using baseline data from midlife or older adults. Fifty years ago few prospective cohort studies of all-cause or CHD mortality included women. Most epidemiologic studies that included community-dwelling adults did not include both sexes and still do not report men and women separately. Few studies consider both sex (biology) and gender (behavior and environment) differences. Lifespan studies describing survival after live birth are not considered here. The important effects of prenatal and early childhood biologic and behavioral factors on adult mortality are beyond the scope of this review. Clinical trials are not discussed. Overall, presumptive evidence for causality was equivalent for psychosocial and biological exposures, and these attributes were often associated with each other. Inconsistencies or gaps were particularly obvious for studies of sex or gender differences in age and optimal measures of body size for CHD outcomes, and in the striking interface of diabetes and people with the metabolic syndrome, most of whom have unrecognized diabetes. PMID:24054926

  14. Controlling aggregation propensity in A53T mutant of alpha-synuclein causing Parkinson's disease

    SciTech Connect

    Kumar, Sonu; Sarkar, Anita; Sundar, Durai

    2009-09-18

    Understanding {alpha}-synuclein in terms of fibrillization, aggregation, solubility and stability is fundamental in Parkinson's disease (PD). The three familial mutations, namely, A30P, E46K and A53T cause PD because the hydrophobic regions in {alpha}-synuclein acquire {beta}-sheet configuration, and have a propensity to fibrillize and form amyloids that cause cytotoxicity and neurodegeneration. On simulating the native form and mutants (A30P, E46K and A53T) of {alpha}-synuclein in water solvent, clear deviations are observed in comparison to the all-helical 1XQ8 PDB structure. We have identified two crucial residues, {sup 40}Val and {sup 74}Val, which play key roles in {beta}-sheet aggregation in the hydrophobic regions 36-41 and 68-78, respectively, leading to fibrillization and amyloidosis in familial (A53T) PD. We have also identified V40D{sub V}74D, a double mutant of A53T (the most amyloidogenic mutant). The simultaneous introduction of these two mutations in A53T nearly ends its aggregation propensity, increases its solubility and positively enhances its thermodynamic stability.

  15. Linking global climate and temperature variability to widespread amphibian declines putatively caused by disease

    PubMed Central

    Rohr, Jason R.; Raffel, Thomas R.

    2010-01-01

    The role of global climate change in the decline of biodiversity and the emergence of infectious diseases remains controversial, and the effect of climatic variability, in particular, has largely been ignored. For instance, it was recently revealed that the proposed link between climate change and widespread amphibian declines, putatively caused by the chytrid fungus Batrachochytrium dendrobatidis (Bd), was tenuous because it was based on a temporally confounded correlation. Here we provide temporally unconfounded evidence that global El Niño climatic events drive widespread amphibian losses in genus Atelopus via increased regional temperature variability, which can reduce amphibian defenses against pathogens. Of 26 climate variables tested, only factors associated with temperature variability could account for the spatiotemporal patterns of declines thought to be associated with Bd. Climatic predictors of declines became significant only after controlling for a pattern consistent with epidemic spread (by temporally detrending the data). This presumed spread accounted for 59% of the temporal variation in amphibian losses, whereas El Niño accounted for 59% of the remaining variation. Hence, we could account for 83% of the variation in declines with these two variables alone. Given that global climate change seems to increase temperature variability, extreme climatic events, and the strength of Central Pacific El Niño episodes, climate change might exacerbate worldwide enigmatic declines of amphibians, presumably by increasing susceptibility to disease. These results suggest that changes to temperature variability associated with climate change might be as significant to biodiversity losses and disease emergence as changes to mean temperature. PMID:20404180

  16. Glycogen Storage Disease type 1a – a secondary cause for hyperlipidemia: report of five cases

    PubMed Central

    2013-01-01

    Background and aims Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder, caused by deficient activity of glucose-6-phosphatase-α. It produces fasting induced hypoglycemia and hepatomegaly, usually manifested in the first semester of life. Besides, it is also associated with growth delay, anemia, platelet dysfunction, osteopenia and sometimes osteoporosis. Hyperlipidemia and hyperuricemia are almost always present and hepatocellular adenomas and renal dysfunction frequent late complications. Methods The authors present a report of five adult patients with GSD Ia followed in internal medicine appointments and subspecialties. Results Four out of five patients were diagnosed in the first 6 months of life, while the other one was diagnosed in adult life after the discovery of hepatocellular adenomas. In two cases genetic tests were performed, being identified the missense mutation R83C in one, and the mutation IVS4-3C > G in the intron 4 of glucose-6-phosphatase gene, not previously described, in the other. Growth retardation was present in 3 patients, and all of them had anemia, increased bleeding tendency and hepatocellular adenomas; osteopenia/osteoporosis was present in three cases. All but one patient had marked hyperlipidemia and hyperuricemia, with evidence of endothelial dysfunction in one case and of brain damage with refractory epilepsy in another case. Proteinuria was present in two cases and end-stage renal disease in another case. There was a great variability in the dietary measures; in one case, liver transplantation was performed, with correction of the metabolic derangements. Conclusions Hyperlipidemia is almost always present and only partially responds to dietary and drug therapy; liver transplantation is the only definitive solution. Although its association with premature atherosclerosis is rare, there have been reports of endothelial dysfunction, raising the possibility for increased cardiovascular risk in this group of

  17. Effects of habitual coffee consumption on cardiometabolic disease, cardiovascular health, and all-cause mortality.

    PubMed

    O'Keefe, James H; Bhatti, Salman K; Patil, Harshal R; DiNicolantonio, James J; Lucan, Sean C; Lavie, Carl J

    2013-09-17

    Coffee, after water, is the most widely consumed beverage in the United States, and is the principal source of caffeine intake among adults. The biological effects of coffee may be substantial and are not limited to the actions of caffeine. Coffee is a complex beverage containing hundreds of biologically active compounds, and the health effects of chronic coffee intake are wide ranging. From a cardiovascular (CV) standpoint, coffee consumption may reduce the risk of type 2 diabetes mellitus and hypertension, as well as other conditions associated with CV risk such as obesity and depression; but it may adversely affect lipid profiles depending on how the beverage is prepared. Regardless, a growing body of data suggests that habitual coffee consumption is neutral to beneficial regarding the risks of a variety of adverse CV outcomes including coronary heart disease, congestive heart failure, arrhythmias, and stroke. Moreover, large epidemiological studies suggest that regular coffee drinkers have reduced risks of mortality, both CV and all-cause. The potential benefits also include protection against neurodegenerative diseases, improved asthma control, and lower risk of select gastrointestinal diseases. A daily intake of ∼2 to 3 cups of coffee appears to be safe and is associated with neutral to beneficial effects for most of the studied health outcomes. However, most of the data on coffee's health effects are based on observational data, with very few randomized, controlled studies, and association does not prove causation. Additionally, the possible advantages of regular coffee consumption have to be weighed against potential risks (which are mostly related to its high caffeine content) including anxiety, insomnia, tremulousness, and palpitations, as well as bone loss and possibly increased risk of fractures.

  18. Bestrophin Gene Mutations Cause Canine Multifocal Retinopathy: A Novel Animal Model for Best Disease

    PubMed Central

    Guziewicz, Karina E.; Zangerl, Barbara; Lindauer, Sarah J.; Mullins, Robert F.; Sandmeyer, Lynne S.; Grahn, Bruce H.; Stone, Edwin M.; Acland, Gregory M.; Aguirre, Gustavo D.

    2007-01-01

    Purpose Canine multifocal retinopathy (cmr) is an autosomal recessive disorder of multiple dog breeds. The disease shares a number of clinical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new large animal model for Best disease. Methods cmr was characterized by ophthalmoscopy and histopathology and compared with BMD-affected patients. BEST1 (alias VMD2), the bestrophin gene causally associated with BMD, was evaluated in the dog. Canine ortholog cDNA sequence was cloned and verified using RPE/choroid 5′- and 3′-RACE. Expression of the canine gene transcripts and protein was analyzed by Northern and Western blotting and immunocytochemistry. All exons and the flanking splice junctions were screened by direct sequencing. Results The clinical phenotype and pathology of cmr closely resemble lesions of BMD. Canine VMD2 spans 13.7 kb of genomic DNA on CFA18 and shows a high level of conservation among eukaryotes. The transcript is predominantly expressed in RPE/choroid and encodes bestrophin, a 580-amino acid protein of 66 kDa. Immunocytochemistry of normal canine retina demonstrated specific localization of protein to the RPE basolateral plasma membranes. Two disease-specific sequence alterations were identified in the canine VMD2 gene: a C73 T stop mutation in cmr1 and a G482A missense mutation in cmr2. Conclusions The authors propose these two spontaneous mutations in the canine VMD2 gene, which cause cmr, as the first naturally occurring animal model of BMD. Further development of the cmr models will permit elucidation of the complex molecular mechanism of these retinopathies and the development of potential therapies. PMID:17460247

  19. Primary and Secondary Yield Losses Caused by Pests and Diseases: Assessment and Modeling in Coffee

    PubMed Central

    Gary, Christian; Tixier, Philippe; Lechevallier, Esther

    2017-01-01

    The assessment of crop yield losses is needed for the improvement of production systems that contribute to the incomes of rural families and food security worldwide. However, efforts to quantify yield losses and identify their causes are still limited, especially for perennial crops. Our objectives were to quantify primary yield losses (incurred in the current year of production) and secondary yield losses (resulting from negative impacts of the previous year) of coffee due to pests and diseases, and to identify the most important predictors of coffee yields and yield losses. We established an experimental coffee parcel with full-sun exposure that consisted of six treatments, which were defined as different sequences of pesticide applications. The trial lasted three years (2013–2015) and yield components, dead productive branches, and foliar pests and diseases were assessed as predictors of yield. First, we calculated yield losses by comparing actual yields of specific treatments with the estimated attainable yield obtained in plots which always had chemical protection. Second, we used structural equation modeling to identify the most important predictors. Results showed that pests and diseases led to high primary yield losses (26%) and even higher secondary yield losses (38%). We identified the fruiting nodes and the dead productive branches as the most important and useful predictors of yields and yield losses. These predictors could be added in existing mechanistic models of coffee, or can be used to develop new linear mixed models to estimate yield losses. Estimated yield losses can then be related to production factors to identify corrective actions that farmers can implement to reduce losses. The experimental and modeling approaches of this study could also be applied in other perennial crops to assess yield losses. PMID:28046054

  20. Mucor rot - An emerging postharvest disease of mandarin fruit caused by Mucor piriformis and other Mucor spp. in California

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In recent years, an emerging, undescribed postharvest fruit rot disease was observed on mandarin fruit after extended storage in California. We collected decayed mandarin fruit from three citrus packinghouses in the Central Valley of California in 2015 and identified this disease as Mucor rot caused...

  1. Whole genome sequences of two Xylella fastidiosa strains (M12 and M23) causing almond leaf scorch disease in California.

    PubMed

    Chen, J; Xie, G; Han, S; Chertkov, O; Sims, D; Civerolo, E L

    2010-09-01

    Xylella fastidiosa is a Gram-negative plant-pathogenic bacterium causing many economically important diseases, including almond leaf scorch disease (ALSD) in California. Genome information greatly facilitates research on this nutritionally fastidious organism. Here we report the complete genome sequences of two ALSD strains of this bacterium, M12 and M23.

  2. Protection and antibody response caused by turkey herpesvirus vector Newcastle disease vaccine.

    PubMed

    Esaki, Motoyuki; Godoy, Alecia; Rosenberger, Jack K; Rosenberger, Sandra C; Gardin, Yannick; Yasuda, Atsushi; Dorsey, Kristi Moore

    2013-12-01

    Newcastle disease (ND) is prevalent worldwide and causes significant clinical and economic losses to the poultry industry. Current vaccine programs using live attenuated vaccines and inactivated vaccines have limitations, and new vaccines with distinct features are needed. To offer an alternative solution to control ND, a turkey herpesvirus vector Newcastle disease vaccine (HVT/ND) expressing the fusion gene of Newcastle disease virus (NDV) has been developed. First, immunogenicity of the HVT/ND was evaluated in specific-pathogen-free layer chickens after vaccination by the in ovo route to 18-day-old embryos or by the subcutaneous route to 1-day-old chicks. Antibodies against NDV were detected at 24 days of age using a commercial NDV enzyme-linked immunosorbent assay (ELISA) kit and the hemagglutination inhibition test. At least 90% of chickens were protected against challenge with velogenic neurotropic NDV Texas GB strain (genotype II; pathotype velogenic) at 4 wk of age, while none of the nonvaccinated, challenged controls were protected from challenge. Second, the age at which a vaccinated chicken elicits an immunologic response to the HVT/ND prepared for this study, and thus is protected from ND virus, was assessed in commercial broiler chickens after in ovo vaccination of 18-day-old embryos. Challenge was conducted using a low-virulence NDV strain (genotype II; pathotype lentogenic) via the respiratory tract each week between 1 and 5 wk of age, in order to mimic the situation in areas where virulent NDV strains do not normally exist and low-virulence strains cause mild respiratory symptoms leading to economic losses. Protection was evaluated by the presence or absence of isolated virus from tracheal swabs at 5 days postchallenge. Partial protection was observed at 3 wk of age, when 6 out of 10 (60%) chickens were protected. Full protection was obtained at 4 and 5 wk of age, when 9 out of 10 (90%) and 10 out of 10 (100%) chickens were protected, respectively

  3. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

    PubMed Central

    Elazar, Nimrod; Lerer, Israela; Schueler-Furman, Ora; Fellig, Yakov; Glick, Benjamin; Zimmerman, Bat-El; Azulay, Haim; Dotan, Shlomo; Goldberg, Sharon; Gomori, John M.; Ponger, Penina; Newman, J. P.; Marreed, Hodaifah; Steck, Andreas J.; Schaeren-Wiemers, Nicole; Mor, Nofar; Harel, Michal; Geiger, Tamar; Eshed-Eisenbach, Yael; Peles, Elior

    2015-01-01

    Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. It presents in infancy with nystagmus, jerky head movements, hypotonia and developmental delay evolving into spastic tetraplegia with optic atrophy and variable movement disorders. A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Merzbacher-like disease. Both genes encode proteins associated with myelin. We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy and peripheral neuropathy in adulthood. Magnetic resonance imaging and spectroscopy were consistent with a demyelinating leukodystrophy. Using genetic linkage and exome sequencing, we identified a homozygous missense c.399C>G; p.S133R mutation in MAG. This gene, previously associated with hereditary spastic paraplegia, encodes myelin-associated glycoprotein, which is involved in myelin maintenance and glia-axon interaction. This mutation is predicted to destabilize the protein and affect its tertiary structure. Examination of the sural nerve biopsy sample obtained in childhood in the oldest sibling revealed complete absence of myelin-associated glycoprotein accompanied by ill-formed onion-bulb structures and a relatively thin myelin sheath of the affected axons. Immunofluorescence, cell surface labelling, biochemical analysis and mass spectrometry-based proteomics studies in a variety of cell types demonstrated a devastating effect of the mutation on post-translational processing, steady state expression and subcellular localization of myelin-associated glycoprotein. In contrast to the wild-type protein, the p.S133R mutant was retained in the endoplasmic reticulum and was subjected to endoplasmic reticulum-associated protein degradation by the

  4. Interleukin-6 Deficiency Does Not Affect Motor Neuron Disease Caused by Superoxide Dismutase 1 Mutation

    PubMed Central

    Han, Yongmei; Ripley, Barry; Serada, Satoshi; Naka, Tetsuji; Fujimoto, Minoru

    2016-01-01

    Background & Aim Amyotrophic Lateral Sclerosis (ALS) is an adult-onset, progressive, motor neuron degenerative disease. Recent evidence indicates that inflammation is associated with many neurodegenerative diseases including ALS. Previously, abnormal levels of inflammatory cytokines including IL-1β, IL-6 and TNF-α were described in ALS patients and/or in mouse ALS models. In addition, one study showed that blocking IL-1β could slow down progression of ALS-like symptoms in mice. In this study, we examined a role for IL-6 in ALS, using an animal model for familial ALS. Methods Mice with mutant SOD1 (G93A) transgene, a model for familial ALS, were used in this study. The expression of the major inflammatory cytokines, IL-6, IL-1β and TNF-α, in spinal cords of these SOD1 transgenic (TG) mice were assessed by real time PCR. Mice were then crossed with IL-6(-/-) mice to generate SOD1TG/IL-6(-/-) mice. SOD1 TG/IL-6(-/-) mice (n = 17) were compared with SOD1 TG/IL-6(+/-) mice (n = 18), SOD1 TG/IL-6(+/+) mice (n = 11), WT mice (n = 15), IL-6(+/-) mice (n = 5) and IL-6(-/-) mice (n = 8), with respect to neurological disease severity score, body weight and the survival. We also histologically compared the motor neuron loss in lumber spinal cords and the atrophy of hamstring muscles between these mouse groups. Results Levels of IL-6, IL-1β and TNF-α in spinal cords of SOD1 TG mice was increased compared to WT mice. However, SOD1 TG/IL-6(-/-) mice exhibited weight loss, deterioration in motor function and shortened lifespan (167.55 ± 11.52 days), similarly to SOD1 TG /IL-6(+/+) mice (164.31±12.16 days). Motor neuron numbers and IL-1β and TNF-α levels in spinal cords were not significantly different in SOD1 TG /IL-6(-/-) mice and SOD1 TG /IL-6 (+/+) mice. Conclusion These results provide compelling preclinical evidence indicating that IL-6 does not directly contribute to motor neuron disease caused by SOD1 mutations. PMID:27070121

  5. Disease and Predation: Sorting out Causes of a Bighorn Sheep (Ovis canadensis) Decline

    PubMed Central

    Smith, Joshua B.; Jenks, Jonathan A.; Grovenburg, Troy W.; Klaver, Robert W.

    2014-01-01

    Estimating survival and documenting causes and timing of mortality events in neonate bighorn sheep (Ovis canadensis) improves understanding of population ecology and factors influencing recruitment. During 2010–2012, we captured and radiocollared 74 neonates in the Black Hills, South Dakota, of which 95% (70) died before 52 weeks of age. Pneumonia (36%) was the leading cause of mortality followed by predation (30%). We used known fate analysis in Program MARK to estimate weekly survival rates and investigate the influence of intrinsic variables on 52-week survival. Model {S1 wk, 2–8 wks, >8 wks} had the lowest AICc (Akaike’s Information Criterion corrected for small sample size) value, indicating that age (3-stage age-interval: 1 week, 2–8 weeks, and >8 weeks) best explained survival. Weekly survival estimates for 1 week, 2–8 weeks, and >8 weeks were 0.81 (95% CI = 0.70–0.88), 0.86 (95% CI = 0.81–0.90), and 0.94 (95% CI = 0.91–0.96), respectively. Overall probability of surviving 52 weeks was 0.02 (95% CI = 0.01–0.07). Of 70 documented mortalities, 21% occurred during the first week, 55% during weeks 2–8, and 23% occurred >8 weeks of age. We found pneumonia and predation were temporally heterogeneous with lambs most susceptible to predation during the first 2–3 weeks of life, while the greatest risk from pneumonia occurred from weeks 4–8. Our results indicated pneumonia was the major factor limiting recruitment followed by predation. Mortality from predation may have been partly compensatory to pneumonia and its effects were less pronounced as alternative prey became available. Given the high rates of pneumonia-caused mortality we observed, and the apparent lack of pneumonia-causing pathogens in bighorn populations in the western Black Hills, management activities should be geared towards eliminating contact between diseased and healthy populations. PMID:24516623

  6. Moko Disease-Causing Strains of Ralstonia solanacearum from Brazil Extend Known Diversity in Paraphyletic Phylotype II.

    PubMed

    Albuquerque, Greecy M R; Santos, Liliana A; Felix, Kátia C S; Rollemberg, Christtianno L; Silva, Adriano M F; Souza, Elineide B; Cellier, Gilles; Prior, Philippe; Mariano, Rosa L R

    2014-11-01

    The epidemic situation of Moko disease-causing strains in Latin America and Brazil is unclear. Thirty-seven Ralstonia solanacearum strains from Brazil that cause the Moko disease on banana and heliconia plants were sampled and phylogenetically typed using the endoglucanase (egl) and DNA repair (mutS) genes according to the phylotype and sequevar classification. All of the strains belonged to phylotype II and a portion of the strains was typed as the Moko disease-related sequevars IIA-6 and IIA-24. Nevertheless, two unsuspected sequevars also harbored the Moko disease-causing strains IIA-41 and IIB-25, and a new sequevar was described and named IIA-53. All of the strains were pathogenic to banana and some of the strains of sequevars IIA-6, IIA-24, and IIA-41 were also pathogenic to tomato. The Moko disease-causing strains from sequevar IIB-25 were pathogenic to potato but not to tomato. These results highlight the high diversity of strains of Moko in Brazil, reinforce the efficiency of the egl gene to reveal relationships among these strains, and contribute to a better understanding of the diversity of paraphyletic Moko disease-causing strains of the R. solanacearum species complex, where the following seven distinct genetic clusters have been described: IIA-6, IIA-24, IIA-41, IIA-53, IIB-3, IIB-4, and IIB-25.

  7. The Built Environment—A Missing “Cause of the Causes” of Non-Communicable Diseases

    PubMed Central

    Walls, Kelvin L.; Boulic, Mikael; Boddy, John W. D.

    2016-01-01

    The United Nations “25 × 25 Strategy” of decreasing non-communicable diseases (NCDs), including cardiovascular diseases, diabetes, cancer and chronic respiratory diseases, by 25% by 2025 does not appear to take into account all causes of NCDs. Its focus is on a few diseases, which are often linked with life-style factors with “voluntary” “modifiable behavioral risk factors” causes tending towards an over-simplification of the issues. We propose to add some aspects of our built environment related to hazardous building materials, and detailed form of the construction of infrastructure and buildings, which we think are some of the missing causes of NCDs. Some of these could be termed “involuntary causes”, as they relate to factors that are beyond the control of the general public. PMID:27690064

  8. Age-related differences in biomedical and folk beliefs as causes for diabetes and heart disease among Mexican origin adults.

    PubMed

    Palmquist, Aunchalee E L; Wilkinson, Anna V; Sandoval, Juan-Miguel; Koehly, Laura M

    2012-08-01

    An understanding of health beliefs is key to creating culturally appropriate health services for Hispanic populations in the US. In this study we explore age-based variations in causal beliefs for heart disease and diabetes among Mexican origin adults in Houston, TX. This cross-sectional study included 497 adults of Mexican origin. Participants were asked to indicate the importance of biomedically defined and folk illness-related risk factors as causes for heart disease and diabetes. Biomedical risk factors were ranked highest as causes of diabetes and heart disease among all participants. Folk illness-related factors were ranked below biomedical factors as causes of heart disease among all age groups. Susto was ranked above the median as a risk factor for diabetes among older participants. Age-related differences in causal beliefs may have implications for designing culturally appropriate health services, such as tailored diabetes interventions for older Mexican origin adults.

  9. Analysis of the Legionella longbeachae genome and transcriptome uncovers unique strategies to cause Legionnaires' disease.

    PubMed

    Cazalet, Christel; Gomez-Valero, Laura; Rusniok, Christophe; Lomma, Mariella; Dervins-Ravault, Delphine; Newton, Hayley J; Sansom, Fiona M; Jarraud, Sophie; Zidane, Nora; Ma, Laurence; Bouchier, Christiane; Etienne, Jerôme; Hartland, Elizabeth L; Buchrieser, Carmen

    2010-02-19

    Legionella pneumophila and L. longbeachae are two species of a large genus of bacteria that are ubiquitous in nature. L. pneumophila is mainly found in natural and artificial water circuits while L. longbeachae is mainly present in soil. Under the appropriate conditions both species are human pathogens, capable of causing a severe form of pneumonia termed Legionnaires' disease. Here we report the sequencing and analysis of four L. longbeachae genomes, one complete genome sequence of L. longbeachae strain NSW150 serogroup (Sg) 1, and three draft genome sequences another belonging to Sg1 and two to Sg2. The genome organization and gene content of the four L. longbeachae genomes are highly conserved, indicating strong pressure for niche adaptation. Analysis and comparison of L. longbeachae strain NSW150 with L. pneumophila revealed common but also unexpected features specific to this pathogen. The interaction with host cells shows distinct features from L. pneumophila, as L. longbeachae possesses a unique repertoire of putative Dot/Icm type IV secretion system substrates, eukaryotic-like and eukaryotic domain proteins, and encodes additional secretion systems. However, analysis of the ability of a dotA mutant of L. longbeachae NSW150 to replicate in the Acanthamoeba castellanii and in a mouse lung infection model showed that the Dot/Icm type IV secretion system is also essential for the virulence of L. longbeachae. In contrast to L. pneumophila, L. longbeachae does not encode flagella, thereby providing a possible explanation for differences in mouse susceptibility to infection between the two pathogens. Furthermore, transcriptome analysis revealed that L. longbeachae has a less pronounced biphasic life cycle as compared to L. pneumophila, and genome analysis and electron microscopy suggested that L. longbeachae is encapsulated. These species-specific differences may account for the different environmental niches and disease epidemiology of these two Legionella

  10. MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs

    PubMed Central

    Albulym, Obaid M.; Kennerson, Marina L.; Harms, Matthew B.; Drew, Alexander P.; Siddell, Anna H.; Auer-Grumbach, Michaela; Pestronk, Alan; Connolly, Anne; Baloh, Robert H.; Zuchner, Stephan; Reddel, Stephen W.; Nicholson, Garth A.

    2016-01-01

    Objective To use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot–Marie–Tooth disease type 2 (CMT2) and pyramidal signs. Methods Genome-wide linkage analysis was performed to map the locus. Whole exome sequencing was undertaken on selected individuals (3 affected, 1 normal), and segregation analysis and mutation screening were carried out using high-resolution melt analysis. The GEM.app database was queried to identify additional families with mutations. Results Significant linkage (2-point LOD score ≥ +3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6Mb interval on chromosome 22q12.1–q12.3. Whole exome sequencing identified a novel mutation (p.R252W) in the microrchidia CW-type zinc finger 2 (MORC2) gene mapping within the linkage region. The mutation fully segregated with the disease phenotype in the family. Screening additional families and querying unsolved CMT2 exomes, we identified the p.R252W mutation in 2 unrelated early onset CMT2 families and a second mutation p.E236G in 2 unrelated CMT2 families. Both the mutations occurred at highly conserved amino acid residues and were absent in the normal population. Interpretation We have identified a new locus in which MORC2 mutations are the likely pathogenic cause of CMT2 and pyramidal signs in these families. MORC2 encodes the human CW-type zinc finger 2 protein, which is a chromatin modifier involved in the regulation of DNA repair as well as gene transcription. PMID:26659848

  11. Antisynthetase syndrome: An under-recognized cause of interstitial lung disease

    PubMed Central

    Maturu, Venkata Nagarjuna; Lakshman, Arjun; Bal, Amanjit; Dhir, Varun; Sharma, Aman; Garg, Mandeep; Saikia, Biman; Agarwal, Ritesh

    2016-01-01

    Background: Antisynthetase syndrome (AS) is an uncommon and under-recognised connective tissue disease characterized by the presence of antibodies to anti-aminoacyl t-RNA synthetase along with features of interstitial lung disease (ILD), myositis and arthritis. The aim of the current study is to describe our experience with management of AS. Materials and Methods: This was a 2-year (2013-2014) retrospective analysis of patients diagnosed with anti-Jo-1-related AS. The presence of anti-Jo-1 antibody was tested by the immunoblot assay. All patients underwent high-resolution computed tomography of the chest, transthoracic echocardiography and evaluation for inflammatory myositis. Transbronchial lung biopsies and muscle biopsies were obtained when clinically indicated. Results: Nine patients (mean age: 43.8 years) were diagnosed with anti-Jo-1-related AS. The median duration of symptoms before diagnosis of AS was 6 months. All patients were negative for antinuclear antibodies by indirect immunofluorescence. The prevalence of ILD, myositis and arthritis at presentation was 100%, 77.8% and 55.6%, respectively. The most common ILD pattern was non-specific interstitial pneumonia (n = 6) followed by organizing pneumonia (n = 2) and usual interstitial pneumonia (n = 1). ILD was the sole manifestation in two patients and was subclinical in two patients. Six patients had pleuropericardial effusions, three patients had pulmonary artery hypertension and two patients had venous thromboembolism. Eight of the nine patients improved after treatment with steroids and other immunosuppressants. Conclusion: Antisynthetase syndrome is an important and a treatable cause of ILD. Strong clinical suspicion is needed to achieve an early diagnosis. PMID:26933302

  12. Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

    PubMed Central

    Tappino, Barbara; Biancheri, Roberta; Mort, Matthew; Regis, Stefano; Corsolini, Fabio; Rossi, Andrea; Stroppiano, Marina; Lualdi, Susanna; Fiumara, Agata; Bembi, Bruno; Di Rocco, Maja; Cooper, David N; Filocamo, Mirella

    2010-01-01

    The characterization of the underlying GALC gene lesions was performed in 30 unrelated patients affected by Krabbe disease, an autosomal recessive leukodystrophy caused by the deficiency of lysosomal enzyme galactocerebrosidase. The GALC mutational spectrum comprised 33 distinct mutant (including 15 previously unreported) alleles. With the exception of 4 novel missense mutations that replaced evolutionarily highly conserved residues (p.P318R, p.G323R, p.I384T, p.Y490N), most of the newly described lesions altered mRNA processing. These included 7 frameshift mutations (c.61delG, c.408delA, c.521delA, c.1171_1175delCATTCinsA, c.1405_1407delCTCinsT, c.302_308dupAAATAGG, c.1819_1826dupGTTACAGG), 3 nonsense mutations (p.R69X, p.K88X, p.R127X) one of which (p.K88X) mediated the skipping of exon 2, and a splicing mutation (c.1489+1G>A) which induced the partial skipping of exon 13. In addition, 6 previously unreported GALC polymorphisms were identified. The functional significance of the novel GALC missense mutations and polymorphisms was investigated using the MutPred analysis tool. This study, reporting one of the largest genotype-phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian GALC mutational profile differs significantly from other populations of European origin. This is due in part to a GALC missense substitution (p.G553R) that occurs at high frequency on a common founder haplotype background in patients originating from the Naples region. © 2010 Wiley-Liss, Inc. PMID:20886637

  13. A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

    PubMed Central

    2014-01-01

    Background Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein ligase with a role in sorting internalised cell-surface receptor proteins. So far, mutations in the LRSAM1 gene have been shown to cause axonal CMT in three different families and can confer either dominant or recessive transmission of the disease. Case presentation We have identified a novel mutation in LRSAM1 in a small family with dominant axonal CMT. Electrophysiological studies show evidence of a sensory axonal neuropathy and are interesting in so far as giant motor unit action potentials (MUAPs) are present on needle electromyography (EMG), while motor nerve conduction studies including compound motor action potential (CMAP) amplitudes are completely normal. The underlying mutation c.2046+1G >T results in the loss of a splice donor site and the inclusion of 63 additional base pairs of intronic DNA into the aberrantly spliced transcript. This disrupts the catalytically active RING (Really Interesting New Gene) domain of LRSAM1. Conclusions Our findings suggest that, beyond the typical length-dependent degeneration of motor axons, damage of cell bodies in the anterior horn might play a role in LRSAM1-associated neuropathies. Moreover, in conjunction with other data in the literature, our results support a model, by which disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1. PMID:24894446

  14. Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

    PubMed

    Cabezas, Oscar Rubio; Flanagan, Sarah E; Stanescu, Horia; García-Martínez, Elena; Caswell, Richard; Lango-Allen, Hana; Antón-Gamero, Montserrat; Argente, Jesús; Bussell, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; Koettgen, Michael; Lewis, Wendy; Martos, José María; Mozere, Monika; Norman, Jill; Patel, Vaksha; Parrish, Andrew; Pérez-Cerdá, Celia; Pozo, Jesús; Rahman, Sofia A; Sebire, Neil; Tekman, Mehmet; Turnpenny, Peter D; Hoff, William Van't; Viering, Daan H H M; Weedon, Michael N; Wilson, Patricia; Guay-Woodford, Lisa; Kleta, Robert; Hussain, Khalid; Ellard, Sian; Bockenhauer, Detlef

    2017-04-03

    Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5). Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, we found in all patients a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations. PMM2 encodes a key enzyme in N-glycosylation. Abnormal glycosylation has been associated with PKD, and we found that deglycosylation in cultured pancreatic β cells altered insulin secretion. Recessive coding mutations in PMM2 cause congenital disorder of glycosylation type 1a (CDG1A), a devastating multisystem disorder with prominent neurologic involvement. Yet our patients did not exhibit the typical clinical or diagnostic features of CDG1A. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2 We propose that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. Our findings extend the spectrum of genetic causes for both HI and PKD and provide insights into gene regulation and PMM2 pleiotropy.

  15. Does taurine deficiency cause metabolic bone disease and rickets in polar bear cubs raised in captivity?

    PubMed

    Chesney, Russell W; Hedberg, Gail E; Rogers, Quinton R; Dierenfeld, Ellen S; Hollis, Bruce E; Derocher, Andrew; Andersen, Magnus

    2009-01-01

    Rickets and fractures have been reported in captive polar bears. Taurine (TAU) is key for the conjugation of ursodeoxycholic acid (UDCA), a bile acid unique to bears. Since TAU-conjugated UDCA optimizes fat and fat-soluble vitamin absorption, we asked if TAU deficiency could cause vitamin D malabsorption and lead to metabolic bone disease in captive polar bears. We measured TAU levels in plasma (P) and whole blood (WB) from captive and free-ranging cubs and adults, and vitamin D3 and TAU concentrations in milk samples from lactating sows. Plasma and WB TAU levels were significantly higher in cubs vs captive and free-ranging adult bears. Vitamin D in polar bear milk was 649.2 +/- 569.2 IU/L, similar to that found in formula. The amount of TAU in polar bear milk is 3166.4 +/- 771 nmol/ml, 26-fold higher than in formula. Levels of vitamin D in bear milk and formula as well as in plasma do not indicate classical nutritional vitamin D deficiency. Higher dietary intake of TAU by free-ranging cubs may influence bile acid conjugation and improve vitamin D absorption.

  16. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

    PubMed Central

    Ikonen, E; Baumann, M; Grön, K; Syvänen, A C; Enomaa, N; Halila, R; Aula, P; Peltonen, L

    1991-01-01

    We have isolated a 2.1 kb cDNA which encodes human aspartylglucosaminidase (AGA, E.C. 3.5.1.26). The activity of this lysosomal enzyme is deficient in aspartylglucosaminuria (AGU), a recessively inherited lysosomal accumulation disease resulting in severe mental retardation. The polypeptide chain deduced from the AGA cDNA consists of 346 amino acids, has two potential N-glycosylation sites and 11 cysteine residues. Transient expression of this cDNA in COS-1 cells resulted in increased expression of immunoprecipitable AGA protein. Direct sequencing of amplified AGA cDNA from an AGU patient revealed a G----C transition resulting in the substitution of cysteine 163 with serine. This mutation was subsequently found in all the 20 analyzed Finnish AGU patients, in the heterozygous form in all 53 carriers and in none of 67 control individuals, suggesting that it represents the major AGU causing mutation enriched in this isolated population. Since the mutation produces a change in the predicted flexibility of the AGA polypeptide chain and removes an intramolecular S-S bridge, it most probably explains the deficient enzyme activity found in cells and tissues of AGU patients. Images PMID:1703489

  17. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

    PubMed

    Irun, P; Mallén, M; Dominguez, C; Rodriguez-Sureda, V; Alvarez-Sala, L A; Arslan, N; Bermejo, N; Guerrero, C; Perez de Soto, I; Villalón, L; Giraldo, P; Pocovi, M

    2013-10-01

    Niemann-Pick disease (NPD) types A and B are autosomal, recessively inherited, lysosomal storage disorders caused by deficient activity of acid sphingomyelinase (E.C. 3.1.4.12) because of mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Here, we present the molecular analysis and clinical characteristics of 15 NPD type A and B patients. Sequencing the SMDP1 gene revealed eight previously described mutations and seven novel mutations including four missense [c.682T>C (p.Cys228Arg), c.1159T>C (p.Cys387Arg), c.1474G>A (p.Gly492Ser), and c.1795C>T (p.Leu599Phe)], one frameshift [c.169delG (p.Ala57Leufs*20)] and two splicing (c.316+1G>T and c.1341delG). The most frequent mutations were p.Arg610del (21%) and p.Gly247Ser (12%). Two patients homozygous for p.Arg610del and initially classified as phenotype B showed different clinical manifestations. Patients homozygous for p.Leu599Phe had phenotype B, and those homozygous for c.1341delG or c.316+1G>T presented phenotype A. The present results provide new insight into genotype/phenotype correlations in NPD and emphasize the difficulty of classifying patients into types A and B, supporting the idea of a continuum between these two classic phenotypes.

  18. Parkinson's disease-associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexes.

    PubMed

    Wang, Wenzhang; Wang, Xinglong; Fujioka, Hisashi; Hoppel, Charles; Whone, Alan L; Caldwell, Maeve A; Cullen, Peter J; Liu, Jun; Zhu, Xiongwei

    2016-01-01

    Mitochondrial dysfunction represents a critical step during the pathogenesis of Parkinson's disease (PD), and increasing evidence suggests abnormal mitochondrial dynamics and quality control as important underlying mechanisms. The VPS35 gene, which encodes a key component of the membrane protein-recycling retromer complex, is the third autosomal-dominant gene associated with PD. However, how VPS35 mutations lead to neurodegeneration remains unclear. Here we demonstrate that PD-associated VPS35 mutations caused mitochondrial fragmentation and cell death in cultured neurons in vitro, in mouse substantia nigra neurons in vivo and in human fibroblasts from an individual with PD who has the VPS35(D620N) mutation. VPS35-induced mitochondrial deficits and neuronal dysfunction could be prevented by inhibition of mitochondrial fission. VPS35 mutants showed increased interaction with dynamin-like protein (DLP) 1, which enhanced turnover of the mitochondrial DLP1 complexes via the mitochondria-derived vesicle-dependent trafficking of the complexes to lysosomes for degradation. Notably, oxidative stress increased the VPS35-DLP1 interaction, which we also found to be increased in the brains of sporadic PD cases. These results revealed a novel cellular mechanism for the involvement of VPS35 in mitochondrial fission, dysregulation of which is probably involved in the pathogenesis of familial, and possibly sporadic, PD.

  19. Sinuolinea niloticus n. sp., a myxozoan parasite that causes disease in Nile tilapia (Oreochromis niloticus).

    PubMed

    Vaz Rodrigues, Marianna; Francisco, Claire Juliana; Biondi, Germano Francisco; Júnior, João Pessoa Araújo

    2016-11-01

    Sinuolinea species are myxozoans of the order Bivalvulida, suborder Variisporina, and family Sinuolineidae, which can be parasites for freshwater and marine fish. The aim of this study was to describe the occurrence of Sinuolinea niloticus n. sp. infecting Nile tilapia (Oreochromis niloticus) from aquaculture and from river sources with morphological and molecular analyses. Between March 2010 and November 2012, 116 Nile tilapia were randomly sampled from aquaculture net fishing (n = 56) in Mira Estrela, São Paulo, and from the Capivari River (n = 60) in Botucatu, São Paulo. The fishes that were sampled were examined by necropsy, microscopic observation and molecular techniques for detection and identification of the myxozoan causing disease in tilapia. All of the tissues that were sampled for analysis showed the presence of the parasite. It was observed by microscopy that the myxozoan belongs to the Sinuolinea genus. This identification was performed based on morphological characteristics and histopathology findings, such as structures consistent with myxozoan in the interstices in all analysed tissues, coagulative necrosis, haemorrhage, inflammatory processes, presence of melano-macrophages and eosinophils. The results of the molecular analyses revealed that the myxozoan detected and identified in this study is sister to a group of other Sinuolinea species. Because this is the first report of this parasite in Nile tilapia, the parasite was named S. niloticus n. sp. This is the first report of a Sinuolinea species in Brazil and in tilapia.

  20. Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.

    PubMed

    Voskoboinik, Ilia; Trapani, Joseph A

    2013-12-12

    Congenital perforin deficiency is considered a rare cause of human immunopathology and immune dysregulation, and classically presents as a fatal illness early in infancy. However, we propose that a group of related disorders in which killer lymphocytes deliver only partially active perforin or a reduced quantum of wild-type perforin to the immune synapse should be considered part of an extended syndrome with overlapping but more variable clinical features. Apart from the many rare mutations scattered over the coding sequences, up to 10% of Caucasians carry the severely hypomorphic PRF1 allele C272 > T (leading to A91V mutation) and the overall prevalence of the homozygous state for A91V is around 1 in 600 individuals. We therefore postulate that the partial loss of perforin function and its clinical consequences may be more common then currently suspected. An acute clinical presentation is infrequent in A91V heterozygous individuals, but we postulate that the partial loss of perforin function may potentially be manifested in childhood or early adulthood as "idiopathic" inflammatory disease, or through increased cancer susceptibility - either hematological malignancy or multiple, independent primary cancers. We suggest the new term "perforinopathy" to signify the common functional endpoints of all the known consequences of perforin deficiency and failure to deliver fully functional perforin.