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Sample records for disease bkd caused

  1. Case definition for clinical and subclinical bacterial kidney disease (BKD) in Atlantic Salmon (Salmo salar L.) in New Brunswick, Canada.

    Boerlage, A S; Stryhn, H; Sanchez, J; Hammell, K L

    2017-03-01

    Bacterial kidney disease (BKD) is considered an important cause of loss in salmon aquaculture in Atlantic Canada. Causative agent of BKD is the Gram-positive bacteria Renibacterium salmoninarum. Infected salmon are often asymptomatic (subclinical infection), and the disease is considered chronic. One of the challenges in quantifying information from farm production and health records is the application of a standardized case definition. Case definitions for farm-level and cage-level clinical and subclinical BKD were developed using retrospective longitudinal data from aquaculture practices in New Brunswick, Canada, combining (i) industry records of weekly production data including mortalities, (ii) field observations for BKD using reports of veterinarians and/or fish health technicians, (iii) diagnostic submissions and test results and (iv) treatments used to control BKD. Case definitions were evaluated using veterinarians' expert judgements as reference standard. Eighty-nine and 66% of sites and fish groups, respectively, were associated with BKD at least once. For BKD present (subclinical or clinical), sensitivity and specificity of the case definition were 75-100% varying between event, fish group, site cycle and level (site pen). For clinical BKD, sensitivities were 29-64% and specificities 91-100%. Industry data can be used to develop sensitive case definitions. © 2016 John Wiley & Sons Ltd.

  2. Genetic variation in bacterial kidney disease (BKD) susceptibility in Lake Michigan Chinook Salmon and its progenitor population from the Puget Sound

    Purcell, Maureen K.; Hard, Jeffrey J.; Neely, Kathleen G.; Park, Linda K.; Winton, James R.; Elliott, Diane G.

    2014-01-01

    Mass mortality events in wild fish due to infectious diseases are troubling, especially given the potential for long-term, population-level consequences. Evolutionary theory predicts that populations with sufficient genetic variation will adapt in response to pathogen pressure. Chinook Salmon Oncorhynchus tshawytscha were introduced into Lake Michigan in the late 1960s from a Washington State hatchery population. In the late 1980s, collapse of the forage base and nutritional stress in Lake Michigan were thought to contribute to die-offs of Chinook Salmon due to bacterial kidney disease (BKD). Previously, we demonstrated that Lake Michigan Chinook Salmon from a Wisconsin hatchery have greater survival following BKD challenge relative to their progenitor population. Here, we evaluated whether the phenotypic divergence of these populations in BKD susceptibility was due to selection rather than genetic drift. Comparison of the overall magnitude of quantitative trait to neutral marker divergence between the populations suggested selection had occurred but a direct test of quantitative trait divergence was not significant, preventing the rejection of the null hypothesis of differentiation through genetic drift. Estimates of phenotypic variation (VP), additive genetic variation (VA) and narrow-sense heritability (h2) were consistently higher in the Wisconsin relative to the Washington population. If selection had acted on the Wisconsin population there was no evidence of a concomitant loss of genetic variation in BKD susceptibility. The Renibacterium salmoninarum exposures were conducted at both 14°C and 9°C; the warmer temperature accelerated time to death in both populations and there was no evidence of phenotypic plasticity or a genotype-by-environment (G × E) interaction. High h2 estimates for BKD susceptibility in the Wisconsin population, combined with a lack of phenotypic plasticity, predicts that future adaptive gains in BKD resistance are still possible and

  3. Oregon ESA 2010 BKD vertical transmission - Test of analyses for bacterial kidney disease as predictors of vertical transmission

    National Oceanic and Atmospheric Administration, Department of Commerce — Although the pathogen causing bacterial kidney disease is known to be transmitted from broodstock female to offspring, there is large uncertainty around the...

  4. Symptoms and Causes of Celiac Disease

    ... Symptoms & Causes of Celiac Disease What are the symptoms of celiac disease? Most people with celiac disease have one or ... the rash and no other symptoms. Why are celiac disease symptoms so varied? Symptoms of celiac disease vary from ...

  5. Symptoms and Causes of Peptic Ulcer Disease

    ... ulcer. How do H. pylori cause a peptic ulcer and peptic ulcer disease? H. pylori are spiral-shaped bacteria that ... peptic ulcer. How do tumors from ZES cause peptic ulcers? Zollinger-Ellison syndrome is a rare disorder that ...

  6. Management of bacterial kidney disease in Chinook Salmon hatcheries based on broodstock testing by enzyme-linked immunosorbent assay: A multiyear study

    Munson, A. Douglas; Elliott, Diane G.; Johnson, Keith

    2010-01-01

    From the mid-1980s through the early 1990s, outbreaks of bacterial kidney disease (BKD) caused by Renibacterium salmoninarum continued in Chinook salmon Oncorhynchus tshawytscha in Idaho Department of Fish and Game (IDFG) hatcheries despite the use of three control methods: (1) injection of returning adult fish with erythromycin to reduce prespawning BKD mortality and limit vertical transmission of R. salmoninarum, (2) topical disinfection of green eggs with iodophor, and (3) prophylactic treatments of juvenile fish with erythromycin-medicated feed. In addition, programs to manage BKD through measurement of R. salmoninarum antigen levels in kidney tissues from spawning female Chinook salmon by an enzyme-linked immunosorbent assay (ELISA) were tested over 13–15 brood years at three IDFG hatcheries. The ELISA results were used for either (1) segregated rearing of progeny from females with high ELISA optical density (OD) values (usually ≥0.25), which are indicative of high R. salmoninarum antigen levels, or (2) culling of eggs from females with high ELISA OD values. The ELISA-based culling program had the most profound positive effects on the study populations. Mortality of juvenile fish during rearing was significantly lower at each hatchery for brood years derived from culling compared with brood years for which culling was not practiced. The prevalence of R. salmoninarum in juvenile fish, as evidenced by detection of the bacterium in kidney smears by the direct fluorescent antibody test, also decreased significantly at each hatchery. In addition, the proportions of returning adult females with kidney ELISA OD values of 0.25 or more decreased 56–85% for fish reared in brood years during which culling was practiced, whereas the proportions of ELISA-negative adults increased 55–58%. This management strategy may allow IDFG Chinook salmon hatcheries to reduce or eliminate prophylactic erythromycin-medicated feed treatments. We recommend using ELISA

  7. Root cause of waterborne diseases in Pakistan

    Hashml, H.N.; Ghumman, A.R.; Malik, N.E.

    2005-01-01

    The waterborne diseases are increasing rapidly at an alarming rate in Pakistan due to poor sanitation and unsafe drinking water supplies. This study shows that about 25 percent of all the illnesses in Lahore are due to severe cases of waterborne diseases. Unhygienic sanitation system is the root cause for this scenario. Drinking water, samples were collected from different zones of the city to find out the root cause of waterborne diseases. The samples from the distribution system serving 'Kachi Abbadies' (Underdeveloped areas) were much more contaminated, may be due to non-chlorination as compared to the water which is regularly chlorinated in posh areas of the city. Contribution of soakage pits in groundwater contamination is more significant at shallow depths. From the laboratory results it is clear that water distribution in underdeveloped areas of the city is highly contaminated and ground water available at shallow depth is also infected by microbial activities. Data collected from the different hospitals to investigate the problem shows that waterborne diseases vary their trend seasonally. Here in Pakistan, rainy season (July-August) reveals maximum number of cases of waterborne diseases. Proper sanitation and water supply systems are more essential to control the influence of waterborne diseases within the country. It is strongly recommended that reputable ways of communications are urgently required to highlight the diseases related to unsafe drinking water. (author)

  8. Chilli anthracnose disease caused by Colletotrichum species.

    Than, Po Po; Prihastuti, Haryudian; Phoulivong, Sitthisack; Taylor, Paul W J; Hyde, Kevin D

    2008-10-01

    Anthracnose disease is one of the major economic constraints to chilli production worldwide, especially in tropical and subtropical regions. Accurate taxonomic information is necessary for effective disease control management. In the Colletotrichum patho-system, different Colletotrichum species can be associated with anthracnose of the same host. Little information is known concerning the interactions of the species associated with the chilli anthracnose although several Colletotrichum species have been reported as causal agents of chilli anthracnose disease worldwide. The ambiguous taxonomic status of Colletotrichum species has resulted in inaccurate identification which may cause practical problems in plant breeding and disease management. Although the management and control of anthracnose disease are still being extensively researched, commercial cultivars of Capsicum annuum that are resistant to the pathogens that cause chilli anthracnose have not yet been developed. This paper reviews the causal agents of chilli anthracnose, the disease cycle, conventional methods in identification of the pathogen and molecular approaches that have been used for the identification of Colletotrichum species. Pathogenetic variation and population structure of the causal agents of chilli anthracnose along with the current taxonomic status of Colletotrichum species are discussed. Future developments leading to the disease management strategies are suggested.

  9. Invasive Disease Caused by Nontypeable Haemophilus Influenzae

    2015-11-12

    Dr. Elizabeth Briere discusses Nontypeable Haemophilus influenzae which causes a variety of infections in children and adults.  Created: 11/12/2015 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/17/2015.

  10. Endocrine causes of nonalcoholic fatty liver disease.

    Marino, Laura; Jornayvaz, François R

    2015-10-21

    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.

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

    Lill, C M; Klein, C

    2017-04-01

    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 (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.

  12. Occupational disease caused by ionizing radiation

    Kluepfel, H.U.

    1983-01-01

    The study investigates the course of the disease of persons whose occupational exposure to radiation had resulted in impairment of their professional ability and entitled them to damages under the current regulations. 35 receivers of damages were found who by answering the question form and partly giving permission to study their file at the insurance institution under the conditions of data protection made is possible to carry through this investigation. 14 receivers of damages were occupied in the technical industry, 21 in the sector of medicine. The radiation disease acknowledged as professional concerned in 30 cases the skin, in two cases the lungs and in one case each the haematopoietic system, the eyes and the pelvic organs. In 8 indemnified, acute radiation exposure had caused the disease, in 25 the time of exposure had ranged from one year to several decades. The investigation describes when and under what professional circumstances the radiation exposure took place, the course of the disease, what kind of diagnostic and therapeutical measures were carried through and what personal and professional consequences the indemnified sustained. It gives suggestions to set up a future, more effective documentation system on the basis of the experience gathered on the occasion of this investigation with the currently valid registration system, which is unsuitable for further scientific studies, and with the currently practised methods of after-care. (orig./HP) [de

  13. Corals diseases are a major cause of coral death

    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...

  14. Rare Cause of Pleuropnemonia: Tularemia Disease.

    Agca, Meltem; Duman, Dildar; Sulu, Ebru; Ozbaki, Fatma; Barkay, Orcun; Ozturk, Derya; Yarkin, Tulay

    2017-09-01

    Tularemia is a zoonotic infection which is caused by gram negative coccobacilli, Francisella tularensis. The disease occurs after contact with blood and body fluids of infected animals, bites and ingestion of infected food and water. Although it commonly presents with skin lesions, there may also be serious organ involvements. A55-year woman was consulted for presumptive diagnosis of tuberculosis. Multiple lymphadenopathy in right cervical area was present on physical examination. Pleural effusion on left side was detected with computed tomography. In detailed history, knowledge of a family member with the diagnosis of tularemia was obtained. Both of them had the history of contact with infected animals. Diagnosis of tularemia was confirmed with microagglutination test. With this patient who was initially presumptively diagnosed as tuberculosis, we aim to draw attention to diagnosis of tularemia in the presence of pleuropnemonia and peripheral lymphadenopathy and emphasize importance of detailed patient history.

  15. [Visceral diseases as cause of lumbar syndromes].

    Tilscher, H; Bogner, G; Landsiedl, F

    1977-01-01

    30 patients with hepatitis, 50 patients with gynecological diseases, and 100 with urological diseases were investigated with regards to lumbago to find out whether there is a correlation between the internal disease and the signs of low back pain. The patients were compared with a control group of 33 healthy people. The vertebral localisation of the pain and its radiation were investigated and discussed in certain diseases as well as any correlation between lumbago and average age. The various possibilities of pain radiation are described and the importance of the vertebral column as secondary seat of low back pain is pointed out.

  16. Castleman's Disease: An Interesting Cause of Hematuria.

    Tolofari, Sotonye Karl; Chow, Wai-Man; Hussain, Basharat

    2015-03-01

    Castleman's disease is a rare benign lymphoproliferative disorder, characterized by benign growths of the lymph node tissue. It is associated with a number of malignancies, including Kaposi sarcoma, non-Hodgkin's and Hodgkins lymphoma, and POEMS syndrome. This report describes the case of a 38 year old gentleman, presenting with painless hematuria. Initial investigations, including flexible cystoscopy were unremarkable. However, subsequent imaging including CT Urogram and MR pelvis revealed multiple prevesical lesions. Histology obtained from excision biopsy revealed histological features consistent with Castleman's disease. In this report we discuss the nature, presentation and treatment modalities of this rare condition.

  17. Pathogen Causing Disease of Diagnosis PCR Tecnology

    SEVİNDİK, Emre; KIR, A. Çağrı; BAŞKEMER, Kadir; UZUN, Veysel

    2013-01-01

    Polimerase chain reaction (PCR) with which, the development of recombinant DNA tecnology, a technique commonly used in field of moleculer biology and genetic. Duplication of the target DNA is provided with this technique without the need for cloning. Some fungus species, bacteria, viruses constitutent an important group of pathogenicity in human, animals and plants. There are routinely applied types of PCR in the detection of pathogens infections diseases. These Nested- PCR, Real- Time PCR, M...

  18. Acrolein Can Cause Cardiovascular Disease: A Review.

    Henning, Robert J; Johnson, Giffe T; Coyle, Jayme P; Harbison, Raymond D

    2017-07-01

    Acrolein is a highly reactive unsaturated aldehyde that is formed during the burning of gasoline and diesel fuels, cigarettes, woods and plastics. In addition, acrolein is generated during the cooking or frying of food with fats or oils. Acrolein is also used in the synthesis of many organic chemicals and as a biocide in agricultural and industrial water supply systems. The total emissions of acrolein in the United States from all sources are estimated to be 62,660 tons/year. Acrolein is classified by the Environmental Protection Agency as a high-priority air and water toxicant. Acrolein can exert toxic effects following inhalation, ingestion, and dermal exposures that are dose dependent. Cardiovascular tissues are particularly sensitive to the toxic effects of acrolein based primarily on in vitro and in vivo studies. Acrolein can generate free oxygen radical stress in the heart, decrease endothelial nitric oxide synthase phosphorylation and nitric oxide formation, form cytoplasmic and nuclear protein adducts with myocyte and vascular endothelial cell proteins and cause vasospasm. In this manner, chronic exposure to acrolein can cause myocyte dysfunction, myocyte necrosis and apoptosis and ultimately lead to cardiomyopathy and cardiac failure. Epidemiological studies of acrolein exposure and toxicity should be developed and treatment strategies devised that prevent or significantly limit acrolein cardiovascular toxicity.

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

    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).

  20. Inorganic arsenic causes fatty liver and interacts with ethanol to cause alcoholic liver disease in zebrafish

    Kathryn Bambino; Chi Zhang; Christine Austin; Chitra Amarasiriwardena; Manish Arora; Jaime Chu; Kirsten C. Sadler

    2018-01-01

    The rapid increase in fatty liver disease (FLD) incidence is attributed largely to genetic and lifestyle factors; however, environmental toxicants are a frequently overlooked factor that can modify the effects of more common causes of FLD. Chronic exposure to inorganic arsenic (iAs) is associated with liver disease in humans and animal models, but neither the mechanism of action nor the combinatorial interaction with other disease-causing factors has been fully investigated. Here, we examined...

  1. Gumboro Disease Outbreaks Cause High Mortality Rates in ...

    Infectious bursal disease is a disease of economic importance which affects all types of chickens and causes variable mortality. To establish the importance of this disease in the indigenous chickens in Kenya a comparative study of natural outbreaks in flocks of layers, broilers and indigenous chickens was done. Thirty nine ...

  2. Celiac disease: A missed cause of metabolic bone disease

    Ashu Rastogi

    2012-01-01

    Full Text Available Introduction: Celiac disease (CD is a highly prevalent autoimmune disease. The symptoms of CD are varied and atypical, with many patients having no gastrointestinal symptoms. Metabolic bone disease (MBD is a less recognized manifestation of CD associated with spectrum of musculoskeletal signs and symptoms, viz. bone pains, proximal muscle weakness, osteopenia, osteoporosis, and fracture. We here report five patients who presented with severe MBD as the only manifestation of CD. Materials and Methods: Records of 825 patients of CD diagnosed during 2002-2010 were retrospectively analyzed for clinical features, risk factors, signs, biochemical, and radiological parameters. Results: We were able to identify five patients (0.6% of CD who had monosymptomatic presentation with musculoskeletal symptoms and signs in the form of bone pains, proximal myopathy, and fragility fractures without any gastrointestinal manifestation. All the five patients had severe MBD in the form of osteopenia, osteoporosis, and fragility fractures. Four of the five patients had additional risk factors such as antiepileptic drugs, chronic alcohol consumption, malnutrition, and associated vitamin D deficiency which might have contributed to the severity of MBD. Conclusion: Severe metabolic disease as the only presentation of CD is rare. Patients show significant improvement in clinical, biochemical, and radiological parameters with gluten-free diet, calcium, and vitamin D supplementation. CD should be looked for routinely in patients presenting with unexplained MBD.

  3. Branched-chain alpha-keto acid catabolism via the gene products of the bkd operon in Enterococcus faecalis: a ne, secreted metabolite serving as a temporary redox sink.

    Ward, D.E.; van der Weijden, C.C.; van der Merwe, M.J.; Westerhoff, H.V.; Claiborne, A.; Snoep, J.L.

    2000-01-01

    Recently the bkd gene cluster from Enterococcus faecalis was sequenced, and it was shown that the gene products constitute a pathway for the catabolism of branched-chain α-keto acids. We have now investigated the regulation and physiological role of this pathway. Primer extension analysis identified

  4. Hereditary Causes of Kidney Stones and Chronic Kidney Disease

    Edvardsson, Vidar O.; Goldfarb, David S.; Lieske, John C.; Beara-Lasic, Lada; Anglani, Franca; Milliner, Dawn S.; Palsson, Runolfur

    2013-01-01

    Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC and PH with emphasis on childhood manifestations. PMID:23334384

  5. Diseases caused by poxvirus - orf and milker's nodules: a review

    S.R.C.S. Barraviera

    2005-06-01

    Full Text Available Sheep and cattle parapoxviruses cause in human beings diseases of very similar aspect, named orf and milker's nodules, respectively. These infections are generically called farmyard pox. In the present article, we show the epidemiological, clinical, and histopathological aspects, as well as the treatment of these two viral diseases that are very similar, being differentiated only by their epidemiological aspects.

  6. Hydatid disease: A rare cause of fracture nonunion

    Divya Aggarwal

    2017-01-01

    Full Text Available Hydatid disease is an infrequent parasitic infestation caused by cestode, most commonly, Echinococcus granulosus. Bone involvement is distinctly uncommon. We would like to share our experience of a rare case of hydatid disease of femur in a 24-year-old male who presented with nonunion of subtrochanteric fracture. Histopathology showed typical lamellated wall and dagger-shaped hooklets. In view of its rarity, hydatid disease often remains an unsuspected infection of the bone.

  7. Inorganic arsenic causes fatty liver and interacts with ethanol to cause alcoholic liver disease in zebrafish

    Kathryn Bambino

    2018-02-01

    Full Text Available The rapid increase in fatty liver disease (FLD incidence is attributed largely to genetic and lifestyle factors; however, environmental toxicants are a frequently overlooked factor that can modify the effects of more common causes of FLD. Chronic exposure to inorganic arsenic (iAs is associated with liver disease in humans and animal models, but neither the mechanism of action nor the combinatorial interaction with other disease-causing factors has been fully investigated. Here, we examined the contribution of iAs to FLD using zebrafish and tested the interaction with ethanol to cause alcoholic liver disease (ALD. We report that zebrafish exposed to iAs throughout development developed specific phenotypes beginning at 4 days post-fertilization (dpf, including the development of FLD in over 50% of larvae by 5 dpf. Comparative transcriptomic analysis of livers from larvae exposed to either iAs or ethanol revealed the oxidative stress response and the unfolded protein response (UPR caused by endoplasmic reticulum (ER stress as common pathways in both these models of FLD, suggesting that they target similar cellular processes. This was confirmed by our finding that arsenic is synthetically lethal with both ethanol and a well-characterized ER-stress-inducing agent (tunicamycin, suggesting that these exposures work together through UPR activation to cause iAs toxicity. Most significantly, combined exposure to sub-toxic concentrations of iAs and ethanol potentiated the expression of UPR-associated genes, cooperated to induce FLD, reduced the expression of as3mt, which encodes an arsenic-metabolizing enzyme, and significantly increased the concentration of iAs in the liver. This demonstrates that iAs exposure is sufficient to cause FLD and that low doses of iAs can potentiate the effects of ethanol to cause liver disease. This article has an associated First Person interview with the first author of the paper.

  8. Inorganic arsenic causes fatty liver and interacts with ethanol to cause alcoholic liver disease in zebrafish.

    Bambino, Kathryn; Zhang, Chi; Austin, Christine; Amarasiriwardena, Chitra; Arora, Manish; Chu, Jaime; Sadler, Kirsten C

    2018-02-26

    The rapid increase in fatty liver disease (FLD) incidence is attributed largely to genetic and lifestyle factors; however, environmental toxicants are a frequently overlooked factor that can modify the effects of more common causes of FLD. Chronic exposure to inorganic arsenic (iAs) is associated with liver disease in humans and animal models, but neither the mechanism of action nor the combinatorial interaction with other disease-causing factors has been fully investigated. Here, we examined the contribution of iAs to FLD using zebrafish and tested the interaction with ethanol to cause alcoholic liver disease (ALD). We report that zebrafish exposed to iAs throughout development developed specific phenotypes beginning at 4 days post-fertilization (dpf), including the development of FLD in over 50% of larvae by 5 dpf. Comparative transcriptomic analysis of livers from larvae exposed to either iAs or ethanol revealed the oxidative stress response and the unfolded protein response (UPR) caused by endoplasmic reticulum (ER) stress as common pathways in both these models of FLD, suggesting that they target similar cellular processes. This was confirmed by our finding that arsenic is synthetically lethal with both ethanol and a well-characterized ER-stress-inducing agent (tunicamycin), suggesting that these exposures work together through UPR activation to cause iAs toxicity. Most significantly, combined exposure to sub-toxic concentrations of iAs and ethanol potentiated the expression of UPR-associated genes, cooperated to induce FLD, reduced the expression of as3mt , which encodes an arsenic-metabolizing enzyme, and significantly increased the concentration of iAs in the liver. This demonstrates that iAs exposure is sufficient to cause FLD and that low doses of iAs can potentiate the effects of ethanol to cause liver disease.This article has an associated First Person interview with the first author of the paper. © 2018. Published by The Company of Biologists Ltd.

  9. Inorganic arsenic causes fatty liver and interacts with ethanol to cause alcoholic liver disease in zebrafish

    Zhang, Chi; Austin, Christine; Amarasiriwardena, Chitra; Arora, Manish

    2018-01-01

    ABSTRACT The rapid increase in fatty liver disease (FLD) incidence is attributed largely to genetic and lifestyle factors; however, environmental toxicants are a frequently overlooked factor that can modify the effects of more common causes of FLD. Chronic exposure to inorganic arsenic (iAs) is associated with liver disease in humans and animal models, but neither the mechanism of action nor the combinatorial interaction with other disease-causing factors has been fully investigated. Here, we examined the contribution of iAs to FLD using zebrafish and tested the interaction with ethanol to cause alcoholic liver disease (ALD). We report that zebrafish exposed to iAs throughout development developed specific phenotypes beginning at 4 days post-fertilization (dpf), including the development of FLD in over 50% of larvae by 5 dpf. Comparative transcriptomic analysis of livers from larvae exposed to either iAs or ethanol revealed the oxidative stress response and the unfolded protein response (UPR) caused by endoplasmic reticulum (ER) stress as common pathways in both these models of FLD, suggesting that they target similar cellular processes. This was confirmed by our finding that arsenic is synthetically lethal with both ethanol and a well-characterized ER-stress-inducing agent (tunicamycin), suggesting that these exposures work together through UPR activation to cause iAs toxicity. Most significantly, combined exposure to sub-toxic concentrations of iAs and ethanol potentiated the expression of UPR-associated genes, cooperated to induce FLD, reduced the expression of as3mt, which encodes an arsenic-metabolizing enzyme, and significantly increased the concentration of iAs in the liver. This demonstrates that iAs exposure is sufficient to cause FLD and that low doses of iAs can potentiate the effects of ethanol to cause liver disease. This article has an associated First Person interview with the first author of the paper. PMID:29361514

  10. Cause-Specific Mortality Among Spouses of Parkinson Disease Patients

    Nielsen, Malene; Hansen, Jonni; Ritz, Beate

    2014-01-01

    BACKGROUND: Caring for a chronically ill spouse is stressful, but the health effects of caregiving are not fully understood. We studied the effect on mortality of being married to a person with Parkinson disease. METHODS: All patients in Denmark with a first-time hospitalization for Parkinson...... disease between 1986 and 2009 were identified, and each case was matched to five population controls. We further identified all spouses of those with Parkinson disease (n = 8,515) and also the spouses of controls (n = 43,432). All spouses were followed in nationwide registries until 2011. RESULTS: Among...... men, being married to a Parkinson disease patient was associated with a slightly higher risk of all-cause mortality (hazard ratio = 1.06 [95% confidence interval = 1.00-1.11]). Mortality was particularly high for death due to external causes (1.42 [1.09-1.84]) including suicide (1.89 [1...

  11. Lipoprotein (a) as a cause of cardiovascular disease

    Nordestgaard, Børge G; Langsted, Anne

    2016-01-01

    Human epidemiologic and genetic evidence using the Mendelian randomization approach in large-scale studies now strongly supports that elevated lipoprotein (a) [Lp(a)] is a causal risk factor for cardiovascular disease, that is, for myocardial infarction, atherosclerotic stenosis, and aortic valve...... with very high concentrations to reduce cardiovascular disease are awaited. Recent genetic evidence documents elevated Lp(a) as a cause of myocardial infarction, atherosclerotic stenosis, and aortic valve stenosis....

  12. Dental erosion caused by gastroesophageal reflux disease: a case report

    Cengiz, Seda; Cengiz, M ?nan?; Sara?, Y ?inasi

    2009-01-01

    Introduction Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue. Case presentation This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined...

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

    Rowell, Temperance R.; Tarran, Robert

    2015-01-01

    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 ...

  14. Spontaneous expulsive suprachoroidal hemorrhage caused by decompensated liver disease

    Krishnagopal Srikanth

    2013-01-01

    Full Text Available Expulsive suprachoroidal hemorrhage can be surgical or spontaneous. Spontaneous expulsive suprachoroidal hemorrhage (SESCH is a rare entity. Most of the reported cases of SESCH were caused by a combination of corneal pathology and glaucoma. We are reporting a rare presentation of SESCH with no pre-existing glaucoma or corneal pathology and caused by massive intra- and peri-ocular hemorrhage due to decompensated liver disease.

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

    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

  16. Chilli anthracnose disease caused by Colletotrichum species§

    Than, Po Po; Prihastuti, Haryudian; Phoulivong, Sitthisack; Taylor, Paul W.J.; Hyde, Kevin D.

    2008-01-01

    Anthracnose disease is one of the major economic constraints to chilli production worldwide, especially in tropical and subtropical regions. Accurate taxonomic information is necessary for effective disease control management. In the Colletotrichum patho-system, different Colletotrichum species can be associated with anthracnose of the same host. Little information is known concerning the interactions of the species associated with the chilli anthracnose although several Colletotrichum species have been reported as causal agents of chilli anthracnose disease worldwide. The ambiguous taxonomic status of Colletotrichum species has resulted in inaccurate identification which may cause practical problems in plant breeding and disease management. Although the management and control of anthracnose disease are still being extensively researched, commercial cultivars of Capsicum annuum that are resistant to the pathogens that cause chilli anthracnose have not yet been developed. This paper reviews the causal agents of chilli anthracnose, the disease cycle, conventional methods in identification of the pathogen and molecular approaches that have been used for the identification of Colletotrichum species. Pathogenetic variation and population structure of the causal agents of chilli anthracnose along with the current taxonomic status of Colletotrichum species are discussed. Future developments leading to the disease management strategies are suggested. PMID:18837103

  17. Dracunculus medinensis (Guinea worm disease): a rare cause of calcification

    Gospos, C.

    1980-01-01

    Tangled whorly calcifications were seen in the abdominal subcutaneous tissues of a negro patient from Africa. The differential diagnosis of such calcifications - rarely observed in Europe - includes a variety of parasites. In this patient, Dracunculus medinensis (guinea worm disease) was the cause.

  18. Colletotrichum species causing anthracnose disease of chili in China

    Diao, Y.-Z.; Zhang, C.; Liu, F.; Wang, W.-Z.; Liu, L.; Cai, L.; Liu, X.-L.

    2017-01-01

    Anthracnose caused by Colletotrichum species is a serious disease of more than 30 plant genera. Several Colletotrichum species have been reported to infect chili in different countries. Although China is the largest chiliproducing country, little is known about the species that have been infecting

  19. Chemical control of blossom blight disease of sarpagandha caused ...

    ONOS

    2010-09-20

    Sep 20, 2010 ... Chemical control of blossom blight disease of sarpagandha caused by Colletotrichum capsici. R. S. Shukla, Abdul-Khaliq and M. Alam*. Department of Plant Pathology, Central Institute of Medicinal and Aromatic Plants, Council of Scientific and Industrial. Research, P. O. CIMAP, Lucknow–226 015, India.

  20. Danon’s disease as a cause of hypertrophic cardiomyopathy

    I. V. Leontyeva

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death. 

  1. Diagnostics of vascular diseases as a cause for acute abdomen

    Juchems, M.S.; Aschoff, A.J.

    2010-01-01

    Vascular pathologies are rare causes of an acute abdomen. If the cause is a vascular disease a rapid diagnosis is desired as vascular pathologies are associated with high mortality. A differentiation must be made between arterial and venous diseases. An occlusion of the superior mesenteric artery is the most common reason for acute mesenteric ischemia but intra-abdominal arterial bleeding is also of great importance. Venous pathologies include thrombotic occlusion of the portal vein, the mesenteric vein and the vena cava. Multi-detector computed tomography (MDCT) is predestined for the diagnostics of vascular diseases of the abdomen. Using multiphasic contrast protocols enables reliable imaging of the arterial and venous vessel tree and detection of disorders with high sensitivity and specificity. Although conventional angiography has been almost completely replaced by MDCT as a diagnostic tool, it is still of high importance for minimally invasive interventions, for example in the management of gastrointestinal bleeding. (orig.) [de

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

    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.

  3. Controlling disease and creating disparities: a fundamental cause perspective.

    Phelan, Jo C; Link, Bruce G

    2005-10-01

    The United States and other developed countries experienced enormous improvements in population health during the 20th century. In the context of this dramatic positive change, health disparities by race and socioeconomic status emerged for several potent killers. Any explanation for current health disparities must take these changing patterns into account. Any explanation that ignores large improvements in population health and fails to account for the emergence of disparities for specific diseases is an inadequate explanation of current disparities. We argue that genetic explanations and some prominent social causation explanations are incompatible with these facts. We propose that the theory of "fundamental causes" can account for both vast improvements in population health and the creation of large socioeconomic and racial disparities in mortality for specific causes of death over time. Specifically, we argue that it is our enormously expanded capacity to control disease and death in combination with existing social and economic inequalities that create health disparities by race and socioeconomic status: When we develop the ability to control disease and death, the benefits of this new-found ability are distributed according to resources of knowledge, money, power, prestige, and beneficial social connections. We present data on changing mortality patterns by race and socioeconomic status for two types of diseases: those for which our capacity to prevent death has increased significantly and those for which we remain largely unable to prevent death. Time trends in mortality patterns are consistent with the fundamental cause explanation.

  4. Helicobacter pylori and autoimmune disease: Cause or bystander

    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

  5. Update on chancroid: an important cause of genital ulcer disease.

    Langley, C

    1996-08-01

    Chancroid is a major cause of genital ulcer disease worldwide, and occurred at epidemic rates in the United States in the late 1980s. Though the recent epidemic in the U.S. appears to be waning, a number of areas continue to report significant numbers of cases. Chancroid is a particular concern, because, like other diseases that cause genital ulceration, it is associated with an increased risk for transmission or acquisition of human immunodeficiency virus (HIV). Recent studies have advanced the understanding of chancroid epidemiology, and new diagnostic tests may improve the ability to recognize and appropriately treat chancroid. Increased awareness of chancroid, with appropriate treatment for suspected lesions, along with public health efforts to implement prevention in high-risk populations, will be critical to prevent ongoing transmission of chancroid, and potentially ongoing transmission of HIV.

  6. Does radioiodine cause the ophthalmopathy of Graves' disease?

    McDougall, I.R.

    1993-01-01

    This editorial briefly reviews studies which might answer the question as to whether radioiodine treatment causes the ophthalmopathy of Graves' disease. However, the data do not allow any conclusion one way or the other. Other possible causal factors are discussed. Further studies are required to define whether treatment of hyperthyroidism aggravates the ophthalmopathy and whether one thereby is worse than the others and by how much. (UK)

  7. The unresolved puzzle why alanine extensions cause disease.

    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.

  8. Vascular pathology: Cause or effect in Alzheimer disease?

    Rius-Pérez, S; Tormos, A M; Pérez, S; Taléns-Visconti, R

    2018-03-01

    Alzheimer disease (AD) is the main cortical neurodegenerative disease. The incidence of this disease increases with age, causing significant medical, social and economic problems, especially in countries with ageing populations. This review aims to highlight existing evidence of how vascular dysfunction may contribute to cognitive impairment in AD, as well as the therapeutic possibilities that might arise from this evidence. The vascular hypothesis emerged as an alternative to the amyloid cascade hypothesis as an explanation for the pathophysiology of AD. This hypothesis locates blood vessels as the origin for a variety of pathogenic pathways that lead to neuronal damage and dementia. Destruction of the organisation of the blood brain barrier, decreased cerebral blood flow, and the establishment of an inflammatory context would thus be responsible for any subsequent neuronal damage since these factors promote aggregation of β-amyloid peptide in the brain. The link between neurodegeneration and vascular dysfunction pathways has provided new drug targets and therapeutic approaches that will add to the treatments for AD. It is difficult to determine whether the vascular component in AD is the cause or the effect of the disease, but there is no doubt that vascular pathology has an important relationship with AD. Vascular dysfunction is likely to act synergistically with neurodegenerative changes in a cycle that exacerbates the cognitive impairment found in AD. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Identification of a Disease on Cocoa Caused by Fusariumin Sulawesi

    Ade Rosmana

    2013-12-01

    Full Text Available A disease presumed to be caused by Fusarium was observed in cocoa open fields with few or without shade trees. Within the population of cocoa trees in the field, some trees had died, some had yellowing leaves and dieback, and the others were apparently healthy. In order to demonstrate Fusarium species as the causal pathogen and to obtain information concerning the incidence of the disease, its distribution and its impact on sustainability of cocoa, isolation of the pathogen, inoculation of cocoa seedlings with isolates and a survey of disease has been conducted. Fusarium was isolated from roots and branches, and inoculated onto cocoa seedlings (one month old via soil. Symptoms appeared within 3-4 weeks after infection. These symptoms consisted of yellowing of leaves beginning from the bottom until the leaves falldown, and browning internal of vascular tissue. Darkened vascular traces in the petiole characteristic of vascularstreak dieback infection were absent. The occurrence of Fusarium in the field was characterized by the absence of obvious signs of fungal infestation on root of infected trees, yellowing of leaves on twigs, dieback, and tree mortality in severe infestations. Disease incidence could reach 77% and in this situation it was difficult for trees recover from heavy infections or to be regenerated in the farm. The study proves that Fusarium is a pathogen causing dieback and the disease is called as Fusarium vascular dieback (FVD. Its development is apparently enhanced by dry conditions in the field. Key words: Fusarium sp., vascular disease, dieback, FVD, Theobroma cacao L.

  10. Documentation of Occupational Accidents and Diseases caused by Ionising Radiation

    Fehringer, F.; Seitz, G.

    2004-01-01

    . One of the major goals of the institutions for statutory accident insurance is the prevention of occupational diseases. To perform a successful prevention work it is necessary not only to count the number of accidents or diseases in the various working fields but to look for details of the conditions of work and the human response to those conditions. The institutions for statutory accident insurance have engaged the institution for statutory accident insurance in the precision engineering and electrical industry to carry out documentation, in form of a data bank, for all cases of occupational diseases which could be caused by ionising radiation. Those are not only the cases which are accepted as occupational disease but also the cases where a suspicion of an occupational disease is announced but finally rejected. At the moment about 1700 cases are included in the data bank. For preserving the anonymity information to name and residence are deleted. Various data to one single case are linked by a case-specific key-number. Information to occupation and field of working, to details of a possible exposure to ionising radiation like kind of radiation, time and duration of radiation, exposure of the whole body or of parts of the body and whole body or organ doses are collected. Additional information refers to medical aspects like diagnosis and date of diagnosis. (Author)

  11. Can we control all-cause meningococcal disease in Europe?

    Sadarangani, M; Pollard, A J

    2016-12-01

    Invasive disease caused by Neisseria meningitidis is potentially devastating, with a case fatality rate of 5-15% and high rates of significant sequelae among survivors after septicaemia or meningitis. Capsular group C (MenC) conjugate vaccines have been highly successful in achieving control of MenC disease across Europe, and some countries have also introduced quadrivalent MenACWY conjugate vaccines to reduce disease caused by groups A, W and Y in addition to C. These vaccines putatively elicit protective levels of bactericidal antibodies in all age groups, induce immunologic memory and reduce nasopharyngeal carriage, thereby leading to herd protection. Protein-based meningococcal vaccines based on subcapsular components, and designed primarily to target capsular group B (MenB) disease, have recently been licensed. These vaccines are highly immunogenic in infants and adolescents, inducing bactericidal antibodies against strains expressing high levels of vaccine antigens which are identical to the variants present in the vaccines. Effectiveness of these vaccines at a population level will be determined by whether vaccine-induced antibodies provide cross-protection against variants of the vaccine antigens present on the surface of the diverse collection of circulating invasive strains. The level of serum bactericidal activity induced against strains also seems to depend on the level of expression of the vaccine antigens. The duration of protection and the impact on carriage of meningococci will have a major bearing on the overall effectiveness of the programme. In September 2015 the UK became the first country to introduce the multicomponent meningococcal serogroup B vaccine (4CMenB) into a national routine immunization schedule, and data on the effectiveness of this programme are anticipated in the next few years. Copyright © 2016 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  12. Pelvic Hydatid Disease: CT and MRI Findings Causing Sciatica

    Sanal, Hatice Tuba; Kocaoglu, Murat; Bulakbasi, Nail; Yildirim, Duzgun [Gulhane Military Medical School, Department of Radiology, 06018, Ankara (Turkmenistan)

    2007-12-15

    Pelvic masses, especially hydatid disease, rarely present with sciatica. 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. isc herniation in the lumbar spine is a well-known etiology of back pains and sciatica, but whenever disc herniation of the lumbar spine is excluded by the employed imaging modalities, then the pelvis should be examined for other possible etiologies of nerve compression. We describe here a patient, who was complaining of sciatica, with no abnormal findings in her lumbar spinal magnetic resonance imaging (MRI). The cause of her sciatica was found to be associated with a pelvic hydatid cyst compressing the lumbosacral nerve plexus. In conclusion, if no pathology is evident for the lumbar discal structures, in connection with the cause of sciatica and lumbar back pains, then the pelvis should also be examined for the possible etiologies of compression of the lumbosacral nerve plexus. Whenever a multiseptated cyst is come across in a patient of an endemic origin with a positive history for hydatid disease like surgery, indicating recurrence, hydatid cyst is the most likely diagnosis.

  13. Pelvic Hydatid Disease: CT and MRI Findings Causing Sciatica

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

    2007-01-01

    Pelvic masses, especially hydatid disease, rarely present with sciatica. 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. isc herniation in the lumbar spine is a well-known etiology of back pains and sciatica, but whenever disc herniation of the lumbar spine is excluded by the employed imaging modalities, then the pelvis should be examined for other possible etiologies of nerve compression. We describe here a patient, who was complaining of sciatica, with no abnormal findings in her lumbar spinal magnetic resonance imaging (MRI). The cause of her sciatica was found to be associated with a pelvic hydatid cyst compressing the lumbosacral nerve plexus. In conclusion, if no pathology is evident for the lumbar discal structures, in connection with the cause of sciatica and lumbar back pains, then the pelvis should also be examined for the possible etiologies of compression of the lumbosacral nerve plexus. Whenever a multiseptated cyst is come across in a patient of an endemic origin with a positive history for hydatid disease like surgery, indicating recurrence, hydatid cyst is the most likely diagnosis

  14. ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

    Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; H'mida-Ben Brahim, Dorra; Boussofara, Lobna; Dai, Liang; Wong, Pui Mun; Foo, Jia Nee; Sriha, Badreddine; Robinson, Kim Samirah; Denil, Simon; Common, John Ea; Mamaï, Ons; Ben Khalifa, Youcef; Bollen, Mathieu; Liu, Jianjun; Denguezli, Mohamed; Bonnard, Carine; Saad, Ali; Reversade, Bruno

    2018-02-01

    Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients. We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatomedin-B-like domains. Histological analysis revealed structural and molecular changes in affected skin that were likely to originate from defective melanocytes because keratinocytes do not express ENPP1. Consistently, RNA-sequencing analysis of patient-derived primary melanocytes revealed alterations in melanocyte development and in pigmentation signaling pathways. We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  15. Colletotrichum species causing anthracnose disease of chili in China.

    Diao, Y-Z; Zhang, C; Liu, F; Wang, W-Z; Liu, L; Cai, L; Liu, X-L

    2017-06-01

    Anthracnose caused by Colletotrichum species is a serious disease of more than 30 plant genera. Several Colletotrichum species have been reported to infect chili in different countries. Although China is the largest chili-producing country, little is known about the species that have been infecting chili locally. Therefore, we collected samples of diseased chili from 29 provinces of China, from which 1285 strains were isolated. The morphological characters of all strains were observed and compared, and multi-locus phylogenetic analyses (ITS, ACT , CAL , CHS-1 , GAPDH , TUB2 , and HIS3 ) were performed on selected representative strains. Fifteen Colletotrichum species were identified, with C. fioriniae , C. fructicola , C. gloeosporioides , C. scovillei , and C. truncatum being prevalent. Three new species, C. conoides , C. grossum , and C. liaoningense , were recognised and described in this paper. Colletotrichum aenigma , C. cliviae , C. endophytica , C. hymenocallidis , C. incanum , C. karstii , and C. viniferum were reported for the first time from chili. Pathogenicity of all species isolated from chili was confirmed, except for C. endophytica . The current study improves the understanding of species causing anthracnose on chili and provides useful information for the effective control of the disease in China.

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

    Pekic, Sandra; Popovic, Vera

    2017-06-01

    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 and 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 occurring 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 as optimal hormonal replacement may significantly improve their quality of life and life expectancy. © 2017 European Society of Endocrinology.

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

    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

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

    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. Copyright © 2015 the American Physiological Society.

  19. Remnant cholesterol as a cause of ischemic heart disease

    Varbo, Anette; Benn, Marianne; Nordestgaard, Børge G

    2014-01-01

    This review focuses on remnant cholesterol as a causal risk factor for ischemic heart disease (IHD), on its definition, measurement, atherogenicity, and levels in high risk patient groups; in addition, present and future pharmacological approaches to lowering remnant cholesterol levels...... are considered. Observational studies show association between elevated levels of remnant cholesterol and increased risk of cardiovascular disease, even when remnant cholesterol levels are defined, measured, or calculated in different ways. In-vitro and animal studies also support the contention that elevated...... levels of remnant cholesterol may cause atherosclerosis same way as elevated levels of low-density lipoprotein (LDL) cholesterol, by cholesterol accumulation in the arterial wall. Genetic studies of variants associated with elevated remnant cholesterol levels show that an increment of 1mmol/L (39mg...

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

    Ad de Groof

    2015-08-01

    Full Text Available 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.

  1. Low-density lipoproteins cause atherosclerotic cardiovascular disease

    Ference, Brian A.; Ginsberg, Henry N.; Graham, Ian

    2017-01-01

    Aims To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence from...... proportional to the absolute reduction in LDL-C and the cumulative duration of exposure to lower LDL-C, provided that the achieved reduction in LDL-C is concordant with the reduction in LDL particle number and that there are no competing deleterious off-target effects. Conclusion Consistent evidence from...

  2. The superior vena cava syndrome caused by malignant disease

    Eren, Suat; Karaman, Adem; Okur, Adnan

    2006-01-01

    Objective: The superior vena cava (SVC) obstruction by malignant diseases is either by direct invasion and compression or by tumour thrombus of the SVC. Whatever is its cause, obstruction of the SVC causes elevated pressure in the veins draining into the SVC and increased or reversed blood flow through collateral vessels. Severity of the syndrome depends on the collateral vascular system development. Therefore, imaging of the collateral veins with variable location and connection is important in determining the extension and management of the disease. Our aims are to describe collateral vessels of the superior vena cava syndrome (SVCS) related with the malignant diseases and to assess the ability of multi-detector row CT with multiplanar and 3D volume rendering techniques in determining and describing collateral circulations. Materials and methods: We present CT angiography findings of seven patients with small cell carcinoma of the lung (n = 2), squamous cell carcinoma of the lung (n = 3), Hodgkin disease of the thorax (n = 1), and squamous cell carcinoma of the oesophagus (n = 1). The patients received contrast-enhanced CT scans of the chest and abdomen on a multi-detector row CT during breath holding at suspended inspiration. Results: CT images revealed the cause and level of the SVC obstruction in all patients with axial and multiplanar reconstructed images. The SVC showed total obstruction in five patients and partial obstruction in two patients. The most common experienced collateral vessels were azygos vein (6), intercostal veins (6), mediastinal veins (6), paravertebral veins (5), hemiazygos vein (5), thoracoepigastric vein (5), internal mammary vein (5), thoracoacromioclavicular venous plexus (5), and anterior chest wall veins (5). While one case showed the portal-systemic shunt, V. cordis media and sinus coronarius with phrenic veins were enlarged in two cases, and the left adrenal vein was enlarged in a patient. In one case, the azygos vein with reversed

  3. The superior vena cava syndrome caused by malignant disease

    Eren, Suat [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey)]. E-mail: suateren@atauni.edu.tr; Karaman, Adem [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey); Okur, Adnan [Department of Radiology, Faculty of Medicine, Atatuerk University, 25240 Erzurum (Turkey)

    2006-07-15

    Objective: The superior vena cava (SVC) obstruction by malignant diseases is either by direct invasion and compression or by tumour thrombus of the SVC. Whatever is its cause, obstruction of the SVC causes elevated pressure in the veins draining into the SVC and increased or reversed blood flow through collateral vessels. Severity of the syndrome depends on the collateral vascular system development. Therefore, imaging of the collateral veins with variable location and connection is important in determining the extension and management of the disease. Our aims are to describe collateral vessels of the superior vena cava syndrome (SVCS) related with the malignant diseases and to assess the ability of multi-detector row CT with multiplanar and 3D volume rendering techniques in determining and describing collateral circulations. Materials and methods: We present CT angiography findings of seven patients with small cell carcinoma of the lung (n = 2), squamous cell carcinoma of the lung (n = 3), Hodgkin disease of the thorax (n = 1), and squamous cell carcinoma of the oesophagus (n = 1). The patients received contrast-enhanced CT scans of the chest and abdomen on a multi-detector row CT during breath holding at suspended inspiration. Results: CT images revealed the cause and level of the SVC obstruction in all patients with axial and multiplanar reconstructed images. The SVC showed total obstruction in five patients and partial obstruction in two patients. The most common experienced collateral vessels were azygos vein (6), intercostal veins (6), mediastinal veins (6), paravertebral veins (5), hemiazygos vein (5), thoracoepigastric vein (5), internal mammary vein (5), thoracoacromioclavicular venous plexus (5), and anterior chest wall veins (5). While one case showed the portal-systemic shunt, V. cordis media and sinus coronarius with phrenic veins were enlarged in two cases, and the left adrenal vein was enlarged in a patient. In one case, the azygos vein with reversed

  4. Adult Scheuermann’s disease as cause of mechanic dorsalgia

    F.P. Cantatore

    2011-09-01

    Full Text Available Scheuermann’s disease (SD or vertebral osteochondrosis is the most frequent cause of non postural kyphosis and one of more frequent cause of adolescent’s dorsalgia. The criteria for the diagnosis are: more than 5° of wedging of at least three adjacent vertebrae at the apex of the kyphosis; a toracic kyphosis of more than 45° of Cobb’s degree; Schmorl’s nodes and endplates irregularities. In addition to classic SD, there are radiological alterations that remain asintomatic for a long time to reveal in adult age: in that case it speaks of adult Scheuermann’s disease (ASD. We considered the diagnosis of patients came from April 2006 to April 2007 on Day Hospital in our Clinic. ASD was diagnosed, besides, in 10 of these patients. 7 patients had previous diagnosis such as: dorsal Spondiloarthrosis (4 subjects; Osteoporosis with vertebral fractures (3 subjects. All these diagnosis was not confirmed by us. In case of chronic dorsalgia of adult, ASD is rarely considered as differential diagnosis. Besides, the vertebral dorsalgia, even in absence of red flags as fever, astenia, ipersedimetry, functional loss and aching spinal processes to tapping, could hide a serious scene that lead us to be careful in the differential diagnosis, because of similar radiological pictures of the MSA to other pathology as spondylodiscitis, primitive or metastasic spinal tumors, and brittleness vertebral fractures

  5. Unstable mutations: cause of some neurological hereditary diseases

    Cuenca Berger, P.; Morales Montero, F.

    1999-01-01

    Unstable mutations or amplification of triplets constitute a kind of genetic alteration discovered during the last decade. They had been found inside or near genes important for the normal neurological function of the human being. In some cases, the presence of the amplification causes the inactivation of the gene or the synthesis of a new product which functions different from the original protein. Some common characteristics of diseases caused by the amplification of triplets are that it affects the nervous system and are degenerative in nature. The expression of the manifestations varies according to age. Most of them show genetic anticipation in which the severity of the manifestations increases with each generation and appear at an earlier age. In most cases, the severity of the symptoms is correlated positively to the size of the amplification. The diagnosis of an affected individual in a family may indicate the presence of an altered gene in other relatives. These relatives may not present evident signs of the illness either because it is of late onset or because they carry premutations. The molecular diagnosis of these mutations is important to estimate the risk of developing the disease and/or of transmitting the illness to the descendants and to eliminate the fears of healthy relatives who have inherited normal copies of the gene. (Author) [es

  6. Dental erosion caused by gastroesophageal reflux disease: a case report.

    Cengiz, Seda; Cengiz, M Inanç; Saraç, Y Sinasi

    2009-07-22

    Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue. This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined. The vertical dimension was re-established and maxillary and mandibular anterior and posterior teeth were prepared for metal-ceramic restorations. Metal-ceramic fixed partial dentures were fabricated as full mouth restorations for both maxillary and mandibular arches because of splinting all teeth. And then maxillary stabilization splint was fabricated for his bruxism history. Significant loss of coronal tooth structure must taken into consideration. Gastroesophageal reflux disease by itself or in combination with attrition, abrasion or bruxism may be responsible for the loss. An extensive diagnostic evaluation is essential for the medical and dental effects of the problem.

  7. Diseases causing acute renal failure in a tertiary care hospital

    Khan, G.; Hussain, K.; Rehman, A.

    2011-01-01

    Objective: This study was done to evaluate frequency of acute renal failure ( ARF ), its causes and out come of the patients. Study Design: Descriptive analytic study Place and Duration of Study: March to Dec 2007 at Combined Military Hospital Lahore. Patients and Methods: All patients, admitted in different wards of the hospital, who developed acute renal failure (doubling of serum creatinine measured on two occasions 12 hours apart), were included in this study. Results: A total of 39 patients were included in the study. Males were 19 (48.71%) and 20 (51.28%) were female. Mean age of patients was 40.2 years (SD=18.0). The major cause was acute Gastroenteritis seen in 23 (58.97%) cases. Others developed ARF due to, Abruptio Placentae 5 (12.82%), Postoperative 5 (12.82%), Eclampsia 3 (7.69%) and Drug induced 3 (7.69%) . Oliguric phase developed in 28 (71.79%) patients and lasted for 8.45 +- 4.16 days. Of these 17 (60.71%) patients had acute gastroenteritis. Conclusion: Gastroenteritis is the most common and important cause of ARF though gynaecological and surgical etiologies must be kept in mind. It is evident that the gynaecological and surgical patients need critical peri-partum and peri-operative monitoring to prevent development of ARF. Early institution of therapy will prevent subsequent morbidity associated with this disease. (author)

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

    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

  9. Hypothyroidism caused by 131I treatment for Graves disease

    Deng Shouzhen; Lin Xiangtong; He Wanting; Zhang Kaili; Zhang Jinming; Kuai Dayu

    1991-01-01

    The refollow-up has been carried out in hypothyroidism caused by 131 I treatment for Graves disease. The serum HS-TSH(IRMA), FT3, TSH(RIA), TT3, TT4, FT4I, MCA, TGA, Cholesterol and Triglyceride has been measured in 26 patient after 131 I treatment for 9.5 years in average. At the same time TRH stimulation test was also performed, and the clinical symptoms and signs assessed. The results showed that TSH is the most sensitive criterion for hypothyroidism, followed by Cholesterol and FT 4 I. The occurence of hypothyroidism may be related to the presence of thyroid antibody as demonstrated by the elevation of serum MCA, TGA. Therefore measurement of serum TSH, FT 4 I and Cholesterol during long term follow-up is beneficial for early diagnosis of hypothyroidism and evaluating the effect of substitution treatment

  10. Hypoxemia in patients with COPD: cause, effects, and disease progression.

    Kent, Brian D

    2012-02-01

    Chronic obstructive pulmonary disease (COPD) is a leading cause of death and disability internationally. Alveolar hypoxia and consequent hypoxemia increase in prevalence as disease severity increases. Ventilation\\/perfusion mismatch resulting from progressive airflow limitation and emphysema is the key driver of this hypoxia, which may be exacerbated by sleep and exercise. Uncorrected chronic hypoxemia is associated with the development of adverse sequelae of COPD, including pulmonary hypertension, secondary polycythemia, systemic inflammation, and skeletal muscle dysfunction. A combination of these factors leads to diminished quality of life, reduced exercise tolerance, increased risk of cardiovascular morbidity, and greater risk of death. Concomitant sleep-disordered breathing may place a small but significant subset of COPD patients at increased risk of these complications. Long-term oxygen therapy has been shown to improve pulmonary hemodynamics, reduce erythrocytosis, and improve survival in selected patients with severe hypoxemic respiratory failure. However, the optimal treatment for patients with exertional oxyhemoglobin desaturation, isolated nocturnal hypoxemia, or mild-to-moderate resting daytime hypoxemia remains uncertain.

  11. Pheromones cause disease: the exocrinology of anorexia nervosa.

    Nicholson, B

    2000-03-01

    The aetiology of anorexia nervosa is exocrinological. This notion is supported by physical evidence in animal models with directly comparable symptomatology. Anorexia nervosa (AN) syndrome would be a puberty delay caused by reception and autoreception of conspecific pheromone emissions: a pheromone-induced puberty delay (PIPD). As such, it would be amenable to medical treatment drawing from forty years of research in animals. This hypothesis is testable. For instance, since food ad libitum is a prerequisite for PIPD, occasional supervised fasting in healthy peripuberal subjects should prevent AN. Besides, tolerating an untestable thought disease (1,2) with symptoms of a curable well-understood animal condition would be anti-scientific and perpetuates medical disaster. Even their endocrinologies are identical. Pheromone feedback tunes animal appetites and immunity to available resources and prospects. In addition to timing puberty, pheromones regulate fertility. Pheromones will probably be implicated in the aetiology of the psychiatric and autoimmune diseases. This is the second in a series of twelve papers to explore this contention systematically. (c) 2000 Harcourt Publishers Ltd Copyright 2000 Harcourt Publishers Ltd.

  12. Does Anxiety Cause Freezing of Gait in Parkinson's Disease?

    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 (panxiety when walking across the HIGH plank compared to the LOW (panxiety 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. PMID:25250691

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

    Kaylena A Ehgoetz Martens

    Full Text Available 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.

  14. Mycoplasma genitalium: An Emerging Cause of Pelvic Inflammatory Disease

    Catherine L. Haggerty

    2011-01-01

    Full Text Available Mycoplasma genitalium is a sexually transmitted pathogen that is increasingly identified among women with pelvic inflammatory disease (PID. Although Chlamydia trachomatis and Neisseria gonorrhoeae frequently cause PID, up to 70% of cases have an unidentified etiology. This paper summarizes evidence linking M. genitalium to PID and its long-term reproductive sequelae. Several PCR studies have demonstrated that M. genitalium is associated with PID, independent of gonococcal and chlamydial infection. Most have been cross-sectional, although one prospective investigation suggested that M. genitalium was associated with over a thirteenfold risk of endometritis. Further, a nested case-control posttermination study demonstrated a sixfold increased risk of PID among M. genitalium positive patients. Whether or not M. genitalium upper genital tract infection results in long-term reproductive morbidity is unclear, although tubal factor infertility patients have been found to have elevated M. genitalium antibodies. Several lines of evidence suggest that M. genitalium is likely resistant to many frequently used PID treatment regimens. Correspondingly, M. genitalium has been associated with treatment failure following cefoxitin and doxycycline treatment for clinically suspected PID. Collectively, strong evidence suggests that M. genitalium is associated with PID. Further study of M. genitalium upper genital tract infection diagnosis, treatment and long-term sequelae is warranted.

  15. Refractory Cushing's disease caused by multinodular ACTH-cell hyperplasia.

    McKeever, P E; Koppelman, M C; Metcalf, D; Quindlen, E; Kornblith, P L; Strott, C A; Howard, R; Smith, B H

    1982-09-01

    A patient with pituitary-dependent hypercortisolism, unresponsive to resection of nodules in the anterior lobe, is described. Histochemical stains of the nodules showed multiple, focal, cellular expansions of the fibrovascular stroma. Transitions between normal and expanded adenohypophysial acini were present. Immunoperoxidase stains for ACTH and other pituitary hormones revealed that these multiple foci contained an excess of ACTH-positive cells. Less than 10% of the cells in these foci were negative for ACTH and positive for other hormones. Serial sections showed that these foci of predominantly ACTH-producing acini were not connected. Clinical, morphological, and immunohistochemical data indicated that ACTH-cell hyperplasia caused Crushing's disease in this patient. Pathologic study of individual cases should concentrate on determining whether hyperplasia or adenoma exist at the time of surgical exploration of the pituitary gland, since this determination is important to proper treatment. Tentative criteria to recognize ACTH-cell hyperplasia are: 1. Multiple foci of ACTH laden cells. 2. A minor subpopulation of cells of alternate hormone series. 3. Expansion without destruction of acini in the adenohypophysis.

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

    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

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

    ... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

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

    ... Can chemotherapy side effects increase the risk of heart disease? Answers from Timothy J. Moynihan, M.D. Chemotherapy side effects may increase the risk of heart disease, including weakening of the heart muscle (cardiomyopathy) and ...

  19. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

    Reynolds, Tim

    2013-11-01

    Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene. These cause reduced activity of lysosomal acid lipase, which results in accumulation of cholesteryl esters in lysosomes. If enzyme activity is very low/absent, presentation is in infancy with failure to thrive, malabsorption, hepatosplenomegaly and rapid early death (Wolman disease). With higher but still low enzyme activity, presentation is later in life with hepatic fibrosis, dyslipidaemia and early atherosclerosis.Identification of this rare disorder is difficult as it is essential to assay leucocyte acid phosphatase activity. An assay using specific inhibitors has now been developed that facilitates measurement in dried blood spots. Treatment of CESD has until now been limited to management of the dyslipidaemia, but this does not influence the liver effects. A new enzyme replacement therapy (Sebelipase) has now been developed that could change treatment options for the future.

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

    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. Inflorescence rot disease of date palm caused by Fusarium ...

    Date palm is one of the important income sources for many farmers in different parts of several countries, including Iraq, Iran, Saudi Arabia, North Africa etc. Inflorescence rot is a serious disease of date palm which limits its yield. The identification of the causal organism is a key step to tackling this disease, and such studies ...

  2. a potential cause of cardiovascular diseases in chronic kidney ...

    Fibroblast growth factor 23 (FGF-23) has been identified as one of the risk factors for the development of cardiovascular diseases (CVDs) in chronic kidney disease (CKD) patients. Although FGF-23 is necessary for the maintenance of phosphate balance, it has been implicated in the pathogenesis of left ventricular ...

  3. An Unusual Cause of Postaural Swelling: Kimura’s Disease

    Purodha Prasad

    2017-07-01

    Full Text Available Introduction: Kimura’s disease (KD is an allergic inflammatory disorder of unknown etiology endemic in Orientals. Kimura’s disease was first mentioned by Kimm and Szeto in China in 1937. Kimura’s disease is commonly encountered in Asia and is mostly reported in Japan, China, Singapore and Honkong. However, only a few cases have been reported in the Indian subcontinent. Case Report: A case of Kimura’s disease in a young male managed by surgery is reported in addition to a literature review. Conclusion: Diagnosis is made on the basis of histopathological analysis, clinical presentation, and laboratory investigations. Long term follow-up is required as Kimura’s disease is prone for recurrence.

  4. Kimura's Disease: A Rare Cause of Postauricular Swelling

    Suman Kumar Das

    2017-04-01

    Full Text Available Introduction Kimura’s Disease is a chronic inflammatory disorder of lymph node which is very rare in Indian population. Case Report A 15 year old boy with multiple postauricular swelling for 18 months presenting in OPD and diagnosed having eosinophilia. Then excision biopsy was taken, which indicates Kimura’s Disease. Patient was treated with high dose of corticosteroid. Conclusion Kimura’s disease, though rare should be kept in mind for treating a patient with lymphadenopathy with eosinophilia or high IgE level, because it can spare the patient unnecessary invasive procedure.

  5. Oxidative Stress in Kidney Diseases: The Cause or the Consequence?

    Krata, Natalia; Zagożdżon, Radosław; Foroncewicz, Bartosz; Mucha, Krzysztof

    2018-06-01

    Exaggerated oxidative stress (OS) is usually considered as a disturbance in regular function of an organism. The excessive levels of OS mediators may lead to major damage within the organism's cells and tissues. Therefore, the OS-associated biomarkers may be considered as new diagnostic tools of various diseases. In nephrology, researchers are looking for alternative methods replacing the renal biopsy in patients with suspicion of chronic kidney disease (CKD). Currently, CKD is a frequent health problem in world population, which can lead to progressive loss of kidney function and eventually to end-stage renal disease. The course of CKD depends on the primary disease. It is assumed that one of the factors influencing the course of CKD might be OS. In the current work, we review whether monitoring the OS-associated biomarkers in nephrology patients can support the decision-making process regarding diagnosis, prognostication and treatment initiation.

  6. Chilli anthracnose disease caused by Colletotrichum species§

    Than, Po Po; Prihastuti, Haryudian; Phoulivong, Sitthisack; Taylor, Paul W.J.; Hyde, Kevin D.

    2008-01-01

    Anthracnose disease is one of the major economic constraints to chilli production worldwide, especially in tropical and subtropical regions. Accurate taxonomic information is necessary for effective disease control management. In the Colletotrichum patho-system, different Colletotrichum species can be associated with anthracnose of the same host. Little information is known concerning the interactions of the species associated with the chilli anthracnose although several Colletotrichum specie...

  7. Principal disease or cause of death in nonsacrifice Segment III beagles receiving gamma radiation during development

    Bishop, L.; Kitchen, D.N.; Benjamin, S.A.; Stephens, L.C.; Hargis, A.M.; Lovering, S.L.; Lee, A.C.; Brewster, R.D.; Brooks, R.K.

    1981-01-01

    Epilepsy, hypothyroidism and neoplasia rank as the three leading causes of death in nonsacrifice Segment III beagles. Chronic renal disease is a fourth major disease entity occurring with increasing frequency in the experimental population. These four major diseases accounted for 57% of the deaths in 1979. Of the four leading causes of death, neoplasia alone can be related to the history of radiation exposure

  8. Elevated Remnant Cholesterol Causes Both Low-Grade Inflammation and Ischemic Heart Disease, Whereas Elevated Low-Density Lipoprotein Cholesterol Causes Ischemic Heart Disease Without Inflammation

    Varbo, Anette; Benn, Marianne; Tybjærg-Hansen, Anne

    2013-01-01

    Elevated nonfasting remnant cholesterol and low-density lipoprotein (LDL) cholesterol are causally associated with ischemic heart disease (IHD), but whether elevated nonfasting remnant cholesterol and LDL cholesterol both cause low-grade inflammation is currently unknown....

  9. An unusual cause of cervical lymphadenopathy: Kikuchi-Fujimoto disease

    Mehmet Uluğ

    2012-03-01

    Full Text Available Kikuchi-Fujimoto disease (KFD, also known as histiocytic necrotizing lymphadenitis, is an uncommon clinical and pathologicalself-limited feature of benign prognosis that may mimic many other diseases diagnosed chiefly in youngadults. The etiology of the disease is unknown although several investigators postulate viral, parasitic and autoimmuneetiologies. The most common symptoms are cervical lymphadenopathy and fever. Diagnosis is usually rendered withexcisional biopsy of lymph nodes and through histopathological findings. Non-steroidal anti-inflammatory drugs areused for the treatment. In this report, two cases of KFD without any associated infectious and/or non-infectious conditionswere presented. J Microbiol Infect Dis 2012; 2(1: 21-25

  10. Metabolic effects of obesity causing disease in childhood.

    Abrams, Pamela; Levitt Katz, Lorraine E

    2011-02-01

    Childhood obesity is rising to epidemic proportions throughout the world, and much emphasis has been placed on the long-term consequences that can result later, in adulthood. This article reviews the metabolic consequences of obesity that can manifest as disease during the childhood years. Obese children suffer from many disease processes once thought to affect only adults. They can have type 2 diabetes mellitus, and potentially early β cell failure with rapid progression to an insulin requirement. There is a high prevalence of fatty liver disease in obese children, and complications such as steatohepatitis and even cirrhosis can develop during childhood. Visceral fat has been shown to have many different properties than subcutaneous fat, and children with central adiposity can develop the metabolic syndrome with insulin resistance, hypertension, and dyslipidemia. Hyperandrogenism, sleep disturbances, and many types of orthopedic complications can also develop in young children. Physicians should not only warn obese children and their families about the long-term consequences of obesity for which they are at risk in adulthood, they should also screen for the many diseases that may already be present.

  11. Modelling studies on neurodegenerative disease-causing triplet ...

    Unknown

    Abbreviations used: DM, dystrophia myotonica; FraX, fragile X syndrome; HD, Huntington disease; rms, root mean square. ... Further, at high salt condition, Greek key type quadruplex ..... tetrads at 30° twist and 3⋅4 Å rise (as observed in fiber.

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

    Groof, A.; Guelen, L.; Deijs, M.; Wal, van der Y.; Miyata, M.; Ng, K.S.; Grinsven, van L.; Simmelink, B.; Biermann, Y.; Grisez, L.; Lent, van J.W.M.; Ronde, de A.; Chang, S.F.; Schrier, C.; Hoek, L.

    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

  13. Prevalence And Disabilities Caused By Guinea-Worm Disease ...

    A survey was carried out in 2001 to ascertain the status of Guinea worm disease infection among farm households in Ebonyi Local Government Area (LGA) of Ebonyi State. A total of 3,777 respondents were randomly sampled from 15 communities that comprised the LGA. The sample respondents were clinically examined ...

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

    Weijenborg, Pim W.; Bredenoord, Albert J.

    2013-01-01

    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

  15. Waterborne Exophiala species causing disease in cold-blooded animals

    de Hoog, G.S.; Vicente, V.A.; Najafzadeh, M.J.; Harrak, M.J.; Badali, H.; Seyedmousavi, S.

    2011-01-01

    The majority of mesophilic waterborne species of the black yeast genus Exophiala (Chaetothyriales) belong to a single clade judging from SSU rDNA data. Most taxa are also found to cause cutaneous or disseminated infections in cold-blooded, water animals, occasionally reaching epidemic proportions.

  16. Waterborne Exophiala species causing disease in cold-blooded animals

    de Hoog, G.S.; Vicente, V.A.; Najafzadeh, M.J.; Harrak, M.J.; Badali, H.; Seyedmousavi, S.

    2012-01-01

    The majority of mesophilic waterborne species of the black yeast genus Exophiala (Chaetothyriales) belong to a single clade judging from SSU rDNA data. Most taxa are also found to cause cutaneous or disseminated infections in cold-blooded, water animals, occasionally reaching epidemic proportions.

  17. Gender Differentials and Disease-Specific Cause of Infant Mortality ...

    AJRH Managing Editor

    causes of infant mortality in an urban hospital in Ghana and gender differences in the burden of infant mortality. Births and deaths data at the hospital .... intended to assess the picture of infant mortality in Ghana as presented in the WHO and ..... Central Intelligence Agency: World Fact Book-Ghana. (2008): Rank order-Infant ...

  18. A sodium-channel mutation causes isolated cardiac conduction disease

    Tan, HL; Bink-Boelkens, MTE; Bezzina, CR; Viswanathan, PC; Beaufort-Krol, GCM; van Tintelen, PJ; van den Berg, MP; Wilde, AAM; Balser, [No Value

    2001-01-01

    Cardiac conduction disorders slow the heart rhythm and cause disability in millions of people worldwide. Inherited mutations in SCN5A, the gene encoding the human cardiac sodium (Na+) channel, have been associated with rapid heart rhythms that occur suddenly and are life-threatening(1-3); however, a

  19. A sodium-channel mutation causes isolated cardiac conduction disease

    Tan, H. L.; Bink-Boelkens, M. T.; Bezzina, C. R.; Viswanathan, P. C.; Beaufort-Krol, G. C.; van Tintelen, P. J.; van den Berg, M. P.; Wilde, A. A.; Balser, J. R.

    2001-01-01

    Cardiac conduction disorders slow the heart rhythm and cause disability in millions of people worldwide. Inherited mutations in SCN5A, the gene encoding the human cardiac sodium (Na+) channel, have been associated with rapid heart rhythms that occur suddenly and are life-threatening; however, a

  20. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

    Duran, Raquel; Mencacci, Niccolo E; Angeli, Aikaterini V; Shoai, Maryam; Deas, Emma; Houlden, Henry; Mehta, Atul; Hughes, Derralynn; Cox, Timothy M; Deegan, Patrick; Schapira, Anthony H; Lees, Andrew J; Limousin, Patricia; Jarman, Paul R; Bhatia, Kailash P; Wood, Nicholas W; Hardy, John; Foltynie, Tom

    2013-02-01

    Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD. One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing. We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD. Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease. Copyright © 2012 Movement Disorders Society.

  1. Involuntary movements in the elderly. Parkinson's disease and other causes.

    Miller, J Q

    1986-03-01

    Dyskinesia is usually lifelong and progressive; therefore, physicians generally see the disorder in elderly patients. Medical treatment must be carefully selected on the basis of the cause of the dyskinesia. Parkinsonian dyskinesia is well controlled by drug therapy. However, patients can become less responsive to a drug after years of use and may experience unwelcome side effects. Cerebellar tremor is extremely disabling because it worsens with activity, but no satisfactory therapy is available. Senile, essential, and familial tremors are also intensified by action, but they can often be suppressed with a mild tranquilizer or a beta blocker. Drug treatment of blepharospasm and spastic dysphonia has been disappointing: Facial or laryngeal surgery is sometimes required. Tardive dyskinesia is caused by neuroleptic drugs, so the only therapy for the disorder is withdrawal of the offending drug.

  2. Important causes of chronic kidney disease in South Africa | Moosa ...

    In hypertensive patients without chronic kidney disease (CKD) the goal is to keep blood pressure (BP) at ≤140/90 mmHg. When CKD is present, especially where there is proteinuria of ≥0.5 g/day, the goal is a BP of ≤130/80 mmHg. Lifestyle measures are mandatory, especially limitation of salt intake, ingestion of ...

  3. Ribbing disease: Uncommon cause of a common symptom

    Damle, Nishikant Avinash; Patnecha, Manish; Kumar, Praveen; Gadodia, Ankur; Subbarao, Kiran; Bal, Chandrasekhar

    2011-01-01

    Ribbing disease is a rare form of sclerosing dysplasia characterized by benign endosteal and periosteal bone growth confined to the diaphyses of the long bones, usually the tibiae and femora. It occurs after puberty and is more commonly seen in women. The most common presenting symptom is pain that is usually self-limited; however, progression is known. The etiology and optimal treatment for the disease are as yet undefined. We present here the case of a 31-year-old woman with clinical, radiological and bone scan manifestations of Ribbing disease corroborated by bone biopsy. Radiographs demonstrated cortical thickening of the diaphyses of both tibiae. 99mTc-methylene diphosphonate bone scan revealed intense irregular uptake in diaphyseal region of both tibiae. Magnetic resonance imaging showed cortical thickening with bone marrow edema in bilateral tibial diaphysis with minimal adjacent soft tissue edema. Bone biopsy revealed predominantly dense lamellar bone with irregular sized and spaced haversian systems. Serum and urine markers of bone metabolism were within normal limits. The patient was treated with analgesics, and had partial relief from pain. Medullary rimming is the next treatment option in case pain progresses. This report emphasizes the role of bone scan in the diagnosis of this rare condition

  4. Biological Control of Plant Disease Caused by Bacteria

    Triwidodo Arwiyanto

    2014-07-01

    Full Text Available Bacterial diseases in plants are difficult to control. The emphasis is on preventing the spread of the bacteria rather than curing the diseased plant. Integrated management measures for bacterial plant pathogens should be applied for successfull control. Biological control is one of the control measures viz. through the use of microorganisms to suppress the growth and development of bacterial plant pathogen and ultimately reduce the possibility of disease onset. The study of biological control of bacterial plant pathogen was just began compared with of fungal plant pathogen. The ecological nature of diverse bacterial plant pathogens has led scientists to apply different approach in the investigation of its biological control. The complex process of entrance to its host plant for certain soil-borne bacterial plant pathogens need special techniques and combination of more than one biological control agent. Problem and progress in controlling bacterial plant pathogens biologically will be discussed in more detail in the paper and some commercial products of biological control agents (biopesticides will be introduced.     Penyakit tumbuhan karena bakteri sulit dikendalikan. Penekanan pengendalian adalah pada pencegahan penyebaran bakteri patogen dan bukan pada penyembuhan tanaman yang sudah sakit. Untuk suksesnya pengendalian bakteri patogen tumbuhan diperlukan cara pengelolaan yang terpadu. Pengendalian secara biologi merupakan salah satu cara pengendalian dengan menggunakan mikroorganisme untuk menekan pertumbuhan dan perkembangan bakteri patogen tumbuhan dengan tujuan akhir menurunkan kemungkinan timbulnya penyakit. Sifat ekologi bakteri patogen tumbuhan yang berbeda-beda mengharuskan pendekatan yang berbeda pula dalam pengendaliannya secara biologi. Masalah dan perkembangan dalam pengendalian bakteri patogen tumbuhan secara biologi didiskusikan secara detail dalam makalah ini.

  5. Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease.

    Klar, Joakim; Blomstrand, Peter; Brunmark, Charlott; Badhai, Jitendra; Håkansson, Hanna Falk; Brange, Charlotte Sollie; Bergendal, Birgitta; Dahl, Niklas

    2011-10-01

    Genetic factors influencing lung function may predispose to chronic obstructive pulmonary disease (COPD). The fibroblast growth factor 10 (FGF10) signalling pathway is critical for lung development and lung epithelial renewal. The hypothesis behind this study was that constitutive FGF10 insufficiency may lead to pulmonary disorder. Therefore investigation of the pulmonary functions of patients heterozygous for loss of function mutations in the FGF10 gene was performed. The spirometric measures of lung function from patients and non-carrier siblings were compared and both groups were related to matched reference data for normal human lung function. The patients show a significant decrease in lung function parameters when compared to control values. The average FEV1/IVC quota (FEV1%) for the patients is 0.65 (80% of predicted) and reversibility test using Terbutalin resulted in a 3.7% increase in FEV1. Patients with FGF10 haploinsufficiency have lung function parameters indicating COPD. A modest response to Terbutalin confirms an irreversible obstructive lung disease. These findings support the idea that genetic variants affecting the FGF10 signalling pathway are important determinants of lung function that may ultimately contribute to COPD. Specifically, the results show that FGF10 haploinsufficiency affects lung function measures providing a model for a dosage sensitive effect of FGF10 in the development of COPD.

  6. Inflammatory spine disease as a cause of back pain

    Schlossbauer, T.; Panteleon, A.; Becker-Gaab, C.

    2006-01-01

    The aim of this review is to evaluate the role of inflammatory spine disease in patients with chronic back pain. The contribution of imaging modalities for the diagnostic evaluation of back pain is discussed. A systematic literature search based on the classification of seronegative spondyloarthropathies and rheumatoid arthritis was performed. The results of this search and the experiences in a large collective of rheumatological patients are analyzed. The prevalence of rheumatoid arthritis (1-2%) is comparable to that of spondyloarthropathies (1.9%). The etiology of these entities is not fully elucidated. Magnetic resonance imaging is increasingly used for early detection and surveillance of therapy with TNF-α antagonists. Bone marrow edema, which is only detectable with MRI, represents an early sign of inflammation. Therapy with TNF-α antagonists is based on clinical and laboratory criteria, and signs of inflammation in MRI. MRI is useful for assessment of the effectiveness of anti-inflammatory therapy. (orig.) [de

  7. Environmental chemicals and autoimmune disease: cause and effect

    Hess, Evelyn V.

    2002-01-01

    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

  8. Detection of Secondary Causes and Coexisting Diseases in Hypertensive Patients: OSA and PA Are the Common Causes Associated with Hypertension.

    Wang, Lei; Li, Nanfang; Yao, Xiaoguang; Chang, Guijuan; Zhang, Delian; Heizhati, Mulalibieke; Wang, Menghui; Luo, Qin; Kong, Jianqiong

    2017-01-01

    Since the control rate of blood pressure is lower in mainland China, the aim of this study is to investigate the proportion of secondary causes and coexisting diseases of hypertension in hypertensive patients. Data on consecutive patients with hypertension who visited the Hypertension Center. Diseases were detected using an established strict screening protocol. Detection rate of secondary causes and coexisting diseases of hypertension was 39.5% among 3003 hypertensive patients. Obstructive sleep apnea (OSA) was the most common, accounting for 24.7% of patients, followed by primary aldosteronism (PA) (5.8%) and PA + OSA (4.9%). Endocrine hypertension accounted for 12.1% of patients, including 10.7% of patients with PA, 1.1% with hypothyroidism, 0.1% with pheochromocytoma, 0.1% with Cushing's syndrome, and 0.1% with hyperthyroidism, respectively. Those who smoke, those who are obese, and those who have diabetes accounted for 31.3%, 27.5%, and 16.6% of total patients, respectively. There were overlapping conditions in secondary causes and coexisting diseases of hypertension. OSA was the most common in each age- and BMI-stratified group. Findings from the current study suggest an increasing frequency of secondary forms of hypertension, highlighting the burden of OSA and PA in hypertensive patients.

  9. Detection of Secondary Causes and Coexisting Diseases in Hypertensive Patients: OSA and PA Are the Common Causes Associated with Hypertension

    Lei Wang

    2017-01-01

    Full Text Available Background. Since the control rate of blood pressure is lower in mainland China, the aim of this study is to investigate the proportion of secondary causes and coexisting diseases of hypertension in hypertensive patients. Methods. Data on consecutive patients with hypertension who visited the Hypertension Center. Diseases were detected using an established strict screening protocol. Results. Detection rate of secondary causes and coexisting diseases of hypertension was 39.5% among 3003 hypertensive patients. Obstructive sleep apnea (OSA was the most common, accounting for 24.7% of patients, followed by primary aldosteronism (PA (5.8% and PA + OSA (4.9%. Endocrine hypertension accounted for 12.1% of patients, including 10.7% of patients with PA, 1.1% with hypothyroidism, 0.1% with pheochromocytoma, 0.1% with Cushing’s syndrome, and 0.1% with hyperthyroidism, respectively. Those who smoke, those who are obese, and those who have diabetes accounted for 31.3%, 27.5%, and 16.6% of total patients, respectively. There were overlapping conditions in secondary causes and coexisting diseases of hypertension. OSA was the most common in each age- and BMI-stratified group. Conclusion. Findings from the current study suggest an increasing frequency of secondary forms of hypertension, highlighting the burden of OSA and PA in hypertensive patients.

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

    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...

  11. Psychological disorders in gastrointestinal disease: epiphenomenon, cause or consequence?

    Shah, Eric; Rezaie, Ali; Riddle, Mark; Pimentel, Mark

    2014-01-01

    Psychological disorders have been associated with irritable bowel syndrome (IBS) for decades in the absence of other objective etiology. However, such associations are also evident in other chronic diseases with more clearly defined pathogenesis such as ulcerative colitis. In this study, we examined the prevalence and severity of psychological disorders among IBS and ulcerative colitis (UC) patients relative to healthy controls. A review was conducted of English-language literature to identify case-control studies reporting the prevalence of depression or anxiety in IBS and UC populations relative to healthy controls. Our primary endpoint was the pooled prevalence or average score of depression or anxiety in an IBS or UC population relative to healthy control. Seven case-control studies evaluating IBS and three evaluating UC were included. All IBS and UC studies reported excess prevalence and severity of depression as well as anxiety, relative to healthy controls. The prevalence of depression in excess of healthy controls was 39% in UC case-control trials and 33% in IBS studies, and excess anxiety was present in UC (42%) and IBS (19%) case-control trials as well. Anxiety and depression scores were higher (representing more severe symptoms) in both UC and IBS patients compared to healthy controls. Anxiety and depressive disorders are associated with both IBS and UC. The non-specific association between these psychological and gastrointestinal disorders could suggest that chronic gastrointestinal illness might affect psychosocial behavior.

  12. Modelling the economic impact of three lameness causing diseases using herd and cow level evidence

    Ettema, Jehan Frans; Østergaard, Søren; Kristensen, Anders Ringgaard

    2010-01-01

    Diseases to the cow's hoof, interdigital skin and legs are highly prevalent and of large economic impact in modern dairy farming. In order to support farmer's decisions on preventing and treating lameness and its underlying causes, decision support models can be used to predict the economic...... horn diseases. Secondly, the existing simulation model was set-up inwaythat it uses hyper-distributions describing diseases risk of the three lameness causing diseases. By combining information on herd level risk factors with prevalence of lameness or prevalence of underlying diseases among cows...

  13. Acute myeloid leukaemia as a cause of acute ischaemic heart disease

    van Haelst, P.L.; Schot, Bart; Hoendermis, E.S.; van den Berg, M.P.

    2006-01-01

    Ischaemic heart disease is almost invariably the result of atherosclerotic degeneration of the coronary arteries. However, other causes of ischaemic heart disease should always be considered. Here we describe two patients with a classic presentation of ischaemic heart disease resulting from acute

  14. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, ...

  15. Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP.

    Morten Bo Johansen

    Full Text Available We have developed a sequence conservation-based artificial neural network predictor called NetDiseaseSNP which classifies nsSNPs as disease-causing or neutral. Our method uses the excellent alignment generation algorithm of SIFT to identify related sequences and a combination of 31 features assessing sequence conservation and the predicted surface accessibility to produce a single score which can be used to rank nsSNPs based on their potential to cause disease. NetDiseaseSNP classifies successfully disease-causing and neutral mutations. In addition, we show that NetDiseaseSNP discriminates cancer driver and passenger mutations satisfactorily. Our method outperforms other state-of-the-art methods on several disease/neutral datasets as well as on cancer driver/passenger mutation datasets and can thus be used to pinpoint and prioritize plausible disease candidates among nsSNPs for further investigation. NetDiseaseSNP is publicly available as an online tool as well as a web service: http://www.cbs.dtu.dk/services/NetDiseaseSNP.

  16. Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP

    Johansen, Morten Bo; Gonzalez-Izarzugaza, Jose Maria; Brunak, Søren

    2013-01-01

    We have developed a sequence conservation-based artificial neural network predictor called NetDiseaseSNP which classifies nsSNPs as disease-causing or neutral. Our method uses the excellent alignment generation algorithm of SIFT to identify related sequences and a combination of 31 features...

  17. Absenteeism due to Functional Limitations Caused by Seven Common Chronic Diseases in US Workers.

    Vuong, Tam D; Wei, Feifei; Beverly, Claudia J

    2015-07-01

    The study examined the relationship between functional limitation due to chronic diseases and absenteeism among full-time workers. The studied chronic diseases include arthritis/rheumatism, cancer, diabetes, heart disease, hypertension, lung disease, and stroke. We analyzed data from the 2011 to 2013 National Health Interview Survey. Economic impact was determined by workdays lost and lost income. Increase in absenteeism was observed for each studied condition. Employees with multiple conditions also saw increase absenteeism. Employers lose 28.2 million workdays annually ($4.95 billion in lost income) due to functional limitation caused by chronic diseases. The results show a burden on society due to functional limitation caused by studied chronic diseases. Employers should look into implementing intervention/prevention programs, such as the Chronic Disease Self-Management Programs, to help reduce the cost associated with absenteeism.

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

    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.

  19. Sleep duration and ischemic heart disease and all-cause mortality

    Garde, Anne Helene; Hansen, Åse Marie; Holtermann, Andreas

    2013-01-01

    This prospective study aimed to examine if sleep duration is a risk indicator for ischemic heart disease (IHD) and all-cause mortality, and how perceived stress during work and leisure time and use of tranquilizers/hypnotics modifies the association.......This prospective study aimed to examine if sleep duration is a risk indicator for ischemic heart disease (IHD) and all-cause mortality, and how perceived stress during work and leisure time and use of tranquilizers/hypnotics modifies the association....

  20. Ileitis caused by Yersinia enterocolitica - X-ray differential diagnosis of Crohn's disease

    Lingg, G.; Hering, L.; Tanneberger, D.

    1981-01-01

    The article gives a brief description of the characteristic features of the clinical and roentgenological course and the various stages of enteritis caused by Yersinia. Basing on three cases of ileitis caused by Yersinia, the far-reaching similarity with the early changes and even the advanced stages of Crohn's diseases are demonstrated. Attention is drawn to the possibilities of differentiating between the two disease patterns. (orig.) [de

  1. Ileitis caused by Yersinia enterocolitica - X-ray differential diagnosis of Crohn's disease

    Lingg, G.; Hering, L.; Tanneberger, D.

    1981-12-01

    The article gives a brief description of the characteristic features of the clinical and roentgenological course and the various stages of enteritis caused by Yersinia. Basing on three cases of ileitis caused by Yersinia, the far-reaching similarity with the early changes and even the advanced stages of Crohn's diseases are demonstrated. Attention is drawn to the possibilities of differentiating between the two disease patterns.

  2. Modelling the economic impact of three lameness causing diseases using herd and cow level evidence.

    Ettema, Jehan; Østergaard, Søren; Kristensen, Anders Ringgaard

    2010-06-01

    Diseases to the cow's hoof, interdigital skin and legs are highly prevalent and of large economic impact in modern dairy farming. In order to support farmer's decisions on preventing and treating lameness and its underlying causes, decision support models can be used to predict the economic profitability of such actions. An existing approach of modelling lameness as one health disorder in a dynamic, stochastic and mechanistic simulation model has been improved in two ways. First of all, three underlying diseases causing lameness were modelled: digital dermatitis, interdigital hyperplasia and claw horn diseases. Secondly, the existing simulation model was set-up in way that it uses hyper-distributions describing diseases risk of the three lameness causing diseases. By combining information on herd level risk factors with prevalence of lameness or prevalence of underlying diseases among cows, marginal posterior probability distributions for disease prevalence in the specific herd are created in a Bayesian network. Random draws from these distributions are used by the simulation model to describe disease risk. Hereby field data on prevalence is used systematically and uncertainty around herd specific risk is represented. Besides the fact that estimated profitability of halving disease risk depended on the hyper-distributions used, the estimates differed for herds with different levels of diseases risk and reproductive efficiency. (c) 2010 Elsevier B.V. All rights reserved.

  3. First report of laurel wilt disease caused by Raffaelea lauricola on pondspice in Florida

    M. Hughes; J.A. Smith; A.E. Mayfield III; M.C. Minno; K. Shin

    2011-01-01

    Laurel wilt is a fungal vascular disease of redbay (Persea borbonia (L.) Spreng) and other plants in the family Lauraceae in the southeastern United States (1). The disease is caused by Raffaelea lauricola T. C. Harr., Fraedrich & Aghayeva, which is vectored by the exotic redbay ambrosia beetle (Xyleborus glabratus...

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

    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...

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

    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...

  6. Milk and dairy consumption and risk of cardiovascular diseases and all-cause mortality

    Guo, Jing; Astrup, Arne; Lovegrove, Julie A.; Gijsbers, Lieke; Givens, David I.; Soedamah-Muthu, Sabita S.

    2017-01-01

    With a growing number of prospective cohort studies, an updated dose–response meta-analysis of milk and dairy products with all-cause mortality, coronary heart disease (CHD) or cardiovascular disease (CVD) have been conducted. PubMed, Embase and Scopus were searched for articles published up to

  7. Annual all-cause mortality rate for patients with diabetic kidney disease in Singapore

    Yee Gary Ang

    2016-06-01

    Conclusion: Our study estimated the annual all-cause mortality rate for Singaporean patients with diabetic kidney disease by CKD stages and identified predictors of all-cause mortality. This study has affirmed the poor prognosis of these patients and an urgency to intervene early so as to retard the progression to later stages of CKD.

  8. A rare cause of hematemesis in newborn: fibrocystic breast disease of mother.

    Aksoy, Hatice Tatar; Eras, Zeynep; Erdeve, Omer; Dilmen, Ugur

    2013-08-01

    Hematemesis in a healthy newborn is most often caused by swallowed maternal blood. Maternal blood due to fibrocystic breast disease in human milk has not previously been reported in the literature. We report here a newborn case with hematemesis in which the mother had fibrocystic breast disease, and we want to emphasize this rare entity. Physicians should be aware of this rare condition, and fibrocystic breast disease of the mother should be included in the differential diagnosis of newborns with hematemesis.

  9. Evaluation of sugarcane introgression lines for resistance to brown rust disease caused by Puccinia melanocephala

    Wang, Xiao-Yan; Wen-Feng, Li; Ying-Kun, Huang; Xin, Lu; Zhi-Ming, Luo; Jiong, Yin; Hong-Li, Shan; Rong-Yue, Zhang

    2013-01-01

    Sugarcane brown rust disease caused by Puccinia melanocephala is one of the important fungal diseases affecting sugarcane yield around the world. Cultivar resistance is the most appropriate control method for this disease. In this study, 62 introgression lines chosen from the crossing Saccharum officinarum L. cv. Ludashi x Erianthus rockii Yunnan 95-19 were evaluated for brown rust resistance using artificial inoculation. More than 30% of the introgression lines were identified as resistant. ...

  10. Addison's Disease Caused by Tuberculosis with Atypical Hyperpigmentation and Active Pulmonary Tuberculosis.

    Namikawa, Hiroki; Takemoto, Yasuhiko; Kainuma, Shigeto; Umeda, Sakurako; Makuuchi, Ayako; Fukumoto, Kazuo; Kobayashi, Masanori; Kinuhata, Shigeki; Isaka, Yoshihiro; Toyoda, Hiromitsu; Kamata, Noriko; Tochino, Yoshihiro; Hiura, Yoshikazu; Morimura, Mina; Shuto, Taichi

    2017-01-01

    We herein report a case of Addison's disease caused by tuberculosis characterized by atypical hyperpigmentation, noted as exacerbation of the pigmentation of freckles and the occurrence of new freckles, that was diagnosed in the presence of active pulmonary tuberculosis. The clinical condition of the patient was markedly ameliorated by the administration of hydrocortisone and anti-tuberculosis agents. When exacerbation of the pigmentation of the freckles and/or the occurrence of new freckles are noted, Addison's disease should be considered as part of the differential diagnosis. In addition, the presence of active tuberculosis needs to be assumed whenever we treat patients with Addison's disease caused by tuberculosis, despite its rarity.

  11. Mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease.

    Bunevicius, Robertas; Velickiene, Dzilda; Prange, Arthur J

    2005-01-01

    To evaluate the prevalence of mood and anxiety disorders in women with treated hyperthyroidism caused by Graves' disease and to compare them with the prevalence of such findings in women without past or present thyroid disease. Thirty inpatient women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease and 45 women hospitalized for treatment of gynecologic disorders such as abnormal vaginal bleeding, benign tumors or infertility were evaluated for the prevalence of mood and anxiety diagnoses using a standard Mini-International Neuropsychiatric Interview and for mood and anxiety ratings using the Profile of Mood States (POMS). At the time of assessment, it was discovered that 14 of 30 women with treated hyperthyroidism caused by Graves' disease were still hyperthyroid, while 16 women were euthyroid. Significantly greater prevalence of social anxiety disorder, generalized anxiety disorder, major depression and total mood and anxiety disorders, as well as higher symptom scores on the POMS, was found in hyperthyroid women with Graves' disease in comparison with the control group. A prevalence of total anxiety disorder, as well as history of mania or hypomania and lifetime bipolar disorder, but not lifetime unipolar depression, was more frequent in both the euthyroid and the hyperthyroid subgroups of study women in comparison with the control group. These results confirm a high prevalence of mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease. Hyperthyroidism plays a major role in psychiatric morbidity in Graves' disease.

  12. KMeyeDB: a graphical database of mutations in genes that cause eye diseases.

    Kawamura, Takashi; Ohtsubo, Masafumi; Mitsuyama, Susumu; Ohno-Nakamura, Saho; Shimizu, Nobuyoshi; Minoshima, Shinsei

    2010-06-01

    KMeyeDB (http://mutview.dmb.med.keio.ac.jp/) is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser with smooth user-interface, without user registration. The results are displayed on the graphical windows together with statistical calculations. All mutations and associated data have been collected from published articles. Careful data analysis with KMeyeDB revealed many interesting features regarding the mutations in 167 genes that cause 326 different types of eye diseases. Some genes are involved in multiple types of eye diseases, whereas several eye diseases are caused by different mutations in one gene.

  13. [Disease burden caused by violence in the Chinese population, in 1990 and 2013].

    Yang, L; Gao, X; Jin, Y; Ye, P P; Er, Y L; Deng, X; Wang, Y; Duan, L L

    2017-10-10

    Objective: To analyze the disease burden of violence in the Chinese population, in 1990 and 2013. Methods: Indicators including mortality rate, years of life lost due to premature mortality (YLL), years lived with disability (YLD), and disability-adjusted of life years (DALY) related to violence, were extracted from the Global Burden of Disease 2013 and used to describe the burden of disease caused by violence in the Chinese population. Data related to corresponding parameters on disease burden of violence in 1990 and 2013 were described. Results: In 2013, a total of 20 500 people died of violent events, with the death rate as 1.44 per 100 000, in China. DALY caused by violence was 1.08 million person years in 2013. DALY caused by sharp violence was 0.47 million person years, with 0.09 million person years lost due to firearm violence. Disease burden caused by violence appeared higher in males than in females. When comparing with data from the 1990s, reductions were seen by 67.35 % on the standardized death rate of violence, by 68.07 % on the DALY attributable to violence, and by 70.47 % on the standardized DALY rate attributable to violence, respectively, in 2013. Disease burden of violence among young adults and elderly was among the highest. When comparing with data from the 1990, DALY in 2013 decreased among all the age groups except for the 70-year-old showed an increase of 9.36 % . The standardized DALY rate in 2013 showed a declining trend in all the age groups, mostly in the 0-4-year-old group. The standardized DALY rates caused by sharp violence or firearm decreased by75.11 % and 83.20 % in the 0-4-year-old group. Conclusion: In recent years, the disease burden caused by violence showed a decreasing trend but appeared higher in males however with the increase of DALY in the elder population.

  14. Diseases of comfort: primary cause of death in the 22nd century.

    Choi, Bernard C K; Hunter, David J; Tsou, Walter; Sainsbury, Peter

    2005-12-01

    The world has started to feel the impact of a global chronic disease epidemic, which is putting pressure on our health care systems. If uncurbed, a new generation of "diseases of comfort" (such as those chronic diseases caused by obesity and physical inactivity) will become a major public health problem in this and the next century. To describe the concept, causes, and prevention and control strategies of diseases of comfort. 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. 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. 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.

  15. Elevated C-reactive protein, depression, somatic diseases, and all-cause mortality

    Wium-Andersen, Marie Kim; Orsted, David Dynnes; Nordestgaard, Børge Grønne

    2014-01-01

    BACKGROUND: Elevated levels of plasma C-reactive protein (CRP) have been associated with many diseases including depression, but it remains unclear whether this association is causal. We tested the hypothesis that CRP is causally associated with depression, and compared these results to those...... for cancer, ischemic heart disease, chronic obstructive pulmonary disease, and all-cause mortality. METHODS: We performed prospective and instrumental variable analyses using plasma CRP levels and four CRP genotypes on 78,809 randomly selected 20- to 100-year-old men and women from the Danish general...... population. End points included hospitalization or death with depression and somatic diseases, prescription antidepressant medication use, and all-cause mortality. RESULTS: A doubling in plasma CRP yielded an observed odds ratio (OR) of 1.28 (95% confidence interval [CI]: 1.23-1.33) for hospitalization...

  16. Taxonomy of Fungi Causing Mucormycosis and Entomophthoramycosis (Zygomycosis) and Nomenclature of the Disease: Molecular Mycologic Perspectives

    2012-01-01

    Molecular phylogenetic analysis confirmed the phylum Zygomycota to be polyphyletic, and the taxa conventionally classified in Zygomycota are now distributed among the new phylum Glomeromycota and 4 subphyla incertae sedis (uncertain placement). Because the nomenclature of the disease zygomycosis was based on the phylum Zygomycota (Zygomycetes) in which the etiologic agents had been classified, the new classification profoundly affects the name of the disease. Zygomycosis was originally described as a convenient and inclusive name for 2 clinicopathologically different diseases, mucormycosis caused by members of Mucorales and entomophthoramycosis caused by species in the order Entomophthorales of Zygomycota. Without revision of original definition, the name “zygomycosis,” however, has more often been used as a synonym only for mucormycosis. This article reviews the progress and changes in taxonomy and nomenclature of Zygomycota and the disease zygomycosis. The article also reiterates the reasons why the classic names “mucormycosis” and “entomophthoramycosis” are more appropriate than “zygomycosis.” PMID:22247451

  17. Pulmonary Hypertension Due to Left Ventricular Cardiomyopathy: Is it the Result or Cause of Disease Progression?

    Adusumalli, Srinath; Mazurek, Jeremy A

    2017-12-01

    The purpose of this review is to define pulmonary hypertension in the setting of left heart disease (PH-LHD), discuss its epidemiology and pathophysiology, and highlight the cause and effect relationship it has with disease progression in the setting of cardiomyopathy. Both pulmonary hypertension (PH) and heart failure are becoming increasingly common. As such, PH-LHD is now the most common form of PH. The pathophysiology of the condition relates to backward transmission of elevated left ventricular filling pressures into the pulmonary circulation and, ultimately, right ventricular (RV) strain/dysfunction. It is evident that these pathophysiologic processes are both the effect and cause of left heart disease progression. In this review, we describe the complex relationship between disease progression in left ventricular cardiomyopathy and PH-LHD. Clinicians and researchers should take note of the importance of PH-LHD and RV dysfunction to appropriately risk stratify patients and develop therapies for the condition.

  18. Disease patterns and causes of death of hospitalized HIV-positive adults in West Africa

    Lewden, Charlotte; Drabo, Youssoufou J; Zannou, Djimon M

    2014-01-01

    %) and cerebral toxoplasmosis (10%). Overall, 315 (38%) patients died during hospitalization and the underlying cause of death was AIDS (63%), non-AIDS-defining infections (26%), other diseases (7%) and non-specific illness or unknown cause (4%). Among them, the most frequent fatal diseases were: tuberculosis (36......%), cerebral toxoplasmosis (10%), cryptococcosis (9%) and sepsis (7%). Older age, clinical WHO stage 3 and 4, low CD4 count, and AIDS-defining infectious diagnoses were associated with hospital fatality. CONCLUSIONS: AIDS-defining conditions, primarily tuberculosis, and bacterial infections were the most...

  19. Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

    Hu, Hao; Wienker, Thomas F; Musante, Luciana; Kalscheuer, Vera M; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, H Hilger

    2014-12-01

    Next-generation sequencing has greatly accelerated the search for disease-causing defects, but even for experts the data analysis can be a major challenge. To facilitate the data processing in a clinical setting, we have developed a novel medical resequencing analysis pipeline (MERAP). MERAP assesses the quality of sequencing, and has optimized capacity for calling variants, including single-nucleotide variants, insertions and deletions, copy-number variation, and other structural variants. MERAP identifies polymorphic and known causal variants by filtering against public domain databases, and flags nonsynonymous and splice-site changes. MERAP uses a logistic model to estimate the causal likelihood of a given missense variant. MERAP considers the relevant information such as phenotype and interaction with known disease-causing genes. MERAP compares favorably with GATK, one of the widely used tools, because of its higher sensitivity for detecting indels, its easy installation, and its economical use of computational resources. Upon testing more than 1,200 individuals with mutations in known and novel disease genes, MERAP proved highly reliable, as illustrated here for five families with disease-causing variants. We believe that the clinical implementation of MERAP will expedite the diagnostic process of many disease-causing defects. © 2014 WILEY PERIODICALS, INC.

  20. The Disease Caused by Zika Virus: Current Clinical and Epidemiological Features

    O.K. Duda

    2016-04-01

    Full Text Available The article deals with the topical issue of today — the disease caused by Zika virus. The etiology and pathogenesis of the disease were described, attention is paid to the examination of a patient with suspected Zika virus. Laboratory tests available in the Synevo laboratory are listed. Recommendations for the treatment are given taking into account the fact that today the causal antiviral treatment is not developed.

  1. Echinococcal disease of the bone: An unusual cause of a pathological fracture

    Matthew Goodier

    2010-12-01

    Full Text Available Echinococcosis is caused by the larva of the tapeworm, Echinococcus granulosus or Echinococcus multiloccularis and is endemic in many rural areas of Southern Africa. Echinococcosis of the bone is an unusual manifestation of echinococcal disease and a rare cause of a lytic lesion of bone. This report describes a 30-yr old female who presented with an Echinococcal cyst of the right radius complicated by a pathological fracture.

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

    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

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

    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 ...

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

    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. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  5. Lost life years due to premature mortality caused by diseases of the respiratory system.

    Maniecka-Bryła, Irena; Paciej-Gołębiowska, Paulina; Dziankowska-Zaborszczyk, Elżbieta; Bryła, Marek

    2018-06-04

    In Poland, as in most other European countries, diseases of the respiratory system are the 4th leading cause of mortality; they are responsible for about 8% of all deaths in the European Union (EU) annually. To assess the socio-economic aspects of mortality, it has become increasingly common to apply potential measures rather than conventionally used ratios. The aim of this study was to analyze years of life lost due to premature deaths caused by diseases of the respiratory system in Poland from 1999 to 2013. The study was based on a dataset of 5,606,516 records, obtained from the death certificates of Polish residents who died between 1999 and 2013. The information on deaths caused by diseases of the respiratory system, i.e., coded as J00-J99 according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10), was analyzed. The Standard Expected Years of Life Lost (SEYLL) indicator was used in the study. In the years 1999-2013, the Polish population suffered 280,519 deaths caused by diseases of the respiratory system (4.69% of all deaths). In the period analyzed, a gradual decrease in the standardized death rate was observed - from 46.31 per 100,000 inhabitants in 1999 to 41.02 in 2013. The dominant causes of death were influenza and pneumonia (J09-J18) and chronic lower respiratory diseases (J40-J47). Diseases of the respiratory system were the cause of 4,474,548.92 lost life years. The Standard Expected Years of Life Lost per person (SEYLLp) was 104.72 per 10,000 males and 52.85 per 10,000 females. The Standard Expected Years of Life Lost per death (SEYLLd) for people who died due to diseases of the respiratory system was 17.54 years of life on average for men and 13.65 years on average for women. The use of the SEYLL indicator provided significant information on premature mortality due to diseases of the respiratory system, indicating the fact that they play a large role in the health status of the Polish

  6. Complete staghorn calculus in polycystic kidney disease: infection is still the cause.

    Mao, Zhiguo; Xu, Jing; Ye, Chaoyang; Chen, Dongping; Mei, Changlin

    2013-08-01

    Kidney stones in patients with autosomal dominant polycystic kidney disease are common, regarded as the consequence of the combination of anatomic abnormality and metabolic risk factors. However, complete staghorn calculus is rare in polycystic kidney disease and predicts a gloomy prognosis of kidney. For general population, recent data showed metabolic factors were the dominant causes for staghorn calculus, but for polycystic kidney disease patients, the cause for staghorn calculus remained elusive. We report a case of complete staghorm calculus in a polycystic kidney disease patient induced by repeatedly urinary tract infections. This 37-year-old autosomal dominant polycystic kidney disease female with positive family history was admitted in this hospital for repeatedly upper urinary tract infection for 3 years. CT scan revealed the existence of a complete staghorn calculus in her right kidney, while there was no kidney stone 3 years before, and the urinary stone component analysis showed the composition of calculus was magnesium ammonium phosphate. UTI is an important complication for polycystic kidney disease and will facilitate the formation of staghorn calculi. As staghorn calculi are associated with kidney fibrosis and high long-term renal deterioration rate, prompt control of urinary tract infection in polycystic kidney disease patient will be beneficial in preventing staghorn calculus formation.

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

    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. Global, Regional, and National Burden of Cardiovascular Diseases for 10 Causes, 1990 to 2015

    Roth, Gregory A; Johnson, Catherine; Abajobir, Amanuel

    2017-01-01

    BACKGROUND: The burden of cardiovascular diseases (CVDs) remains unclear in many regions of the world. OBJECTIVES: The GBD (Global Burden of Disease) 2015 study integrated data on disease incidence, prevalence, and mortality to produce consistent, up-to-date estimates for cardiovascular burden......-income countries. Ischemic heart disease was the leading cause of CVD health lost globally, as well as in each world region, followed by stroke. As SDI increased beyond 0.25, the highest CVD mortality shifted from women to men. CVD mortality decreased sharply for both sexes in countries with an SDI >0...... be used to guide policymakers who are focused on reducing the overall burden of noncommunicable disease and achieving specific global health targets for CVD....

  9. [Moyamoya disease as a rare cause of ischaemic stroke--case report].

    Kułakowska, Alina; Kapica-Topczewska, Katarzyna; Borowik, Helena; Drozdowski, Wiesław

    2009-10-01

    Moyamoya disease is a rare, progressive disease of the vessels diagnosed according to characteristic abnormalities of brain arteries in the angiography. The incidence of moyamoya disease in Europe is lower than in Asia and its clinical course in European population is probably different from Asiatic (older age of onset and rare incidence of hemorrhagic strokes). Two young patients were diagnosed as moyamoya disease on the basis of clinical symptoms (ischaemic stroke) and results of brain vessels' angiography, which documented an occlusion of both internal carotid arteries above branching-off the ocular arteries in the first patient and stenosis of distal internal carotid arteries and proximal medial and anterior cerebral arteries in the second one. Both patients are under control of the Neurological Outpatient Department and their neurological state is stable. Despite that moyamoya disease is a rare cause of ischaemic stroke, it should be always considered as one of etiologic factors, especially in young patients.

  10. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities.

  11. The suggestion of common cause of disease, characteristics of human body, and medical treatment

    Byung-Jun Cho

    2011-06-01

    Full Text Available Objectives & Methods: This suggestion was attempted to be elevated the recognition of common characteristics in disease. So, we performed to analyze the correlation of common cause of disease, characteristics of human body, and medical treatment. And the results are as follows. Results: 1. The cause of disease is consist of genetic factor, aging, habit, food of not good in health, weather, environment, deficit of the physical activity, stress and so on. 2. Generally, human has common and individual weakness. Individual weakness is appeared similar to the occurrence of volcano and lapse. 3. The correlation of disease and medical treatments is possible to explain using the quotation of the law of motion made by Isaac Newton, the great physicist. 4. When the process of the medical treatment was not progressed, the prognosis is determined by the correlation of the homeostasis(H' in human body and the homeostasis(H of disease. 5. The prognosis of disease is determined by the relationship between the energy of disease(F and medical treatment(F'. 6. The exact diagnosis is possible to predict the treatment sequence, and the facts that homeostasis in human body and disease, relationship between the energy of disease(F and medical treatment(F', action and reaction are important to determine the prognosis. 7. The careful observation of improving response and worsening action of disease becomes available for exact prognosis. Conclusion: The above described contents may be useful in clinical studies, and the concrete clinical reports about this will be made afterward.

  12. Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

    Roca, Xavier; Olson, Andrew J; Rao, Atmakuri R

    2008-01-01

    Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5'-splice-site (5'ss) mutations that are not predicted to disrupt splicing, according to position weight matrices. By using comparative genomics, we identify pairwise dependencies...

  13. S-phase-dependent cell cycle disturbances caused by Aleutian mink disease parvovirus

    Oleksiewicz, M.B.; Alexandersen, Søren

    1997-01-01

    We examined replication of the autonomous parovirus Aleutian mink disease parovirus (ADV) in relation to cell cycle progression of permissive Crandell feline kidney (CRFK) cells. Flow cytometric analysis showed that ADV caused a composite, binary pattern of cell cycle arrest. ADV-induced cell cyc...

  14. Influenza A (H10N7) Virus Causes Respiratory Tract Disease in Harbor Seals and Ferrets

    van den Brand, Judith M A; Wohlsein, Peter; 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; Kuiken, Thijs; Baumgärtner, Wolfgang

    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

  15. An emergent disease causes directional changes in forest species composition in coastal California

    Margaret Metz; Kerri Frangioso; Allison Wickland; Ross Meentemeyer; David Rizzo

    2012-01-01

    Non-native forest pathogens can cause dramatic and long-lasting changes to the composition of forests, and these changes may have cascading impacts on community interactions and ecosystem functioning. Phytophthora ramorum, the causal agent of the emergent forest disease sudden oak death (SOD), has a wide host range, but mortality is concentrated in...

  16. Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's Disease

    Somavarapu, Arun Kumar; Kepp, Kasper Planeta

    2016-01-01

    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 mutant...

  17. Chewing betel quid and the risk of metabolic disease, cardiovascular disease, and all-cause mortality: a meta-analysis.

    Yamada, Tomohide; Hara, Kazuo; Kadowaki, Takashi

    2013-01-01

    Betel nut (Areca nut) is the fruit of the Areca catechu tree. Approximately 700 million individuals regularly chew betel nut (or betel quid) worldwide and it is a known risk factor for oral cancer and esophageal cancer. We performed a meta-analysis to assess the influence of chewing betel quid on metabolic diseases, cardiovascular disease, and all-cause mortality. We searched Medline, Cochrane Library, Web of Science, and Science Direct for pertinent articles (including the references) published between 1951 and 2013. The adjusted relative risk (RR) and 95% confidence interval were calculated using the random effect model. Sex was used as an independent category for comparison. Of 580 potentially relevant studies, 17 studies from Asia (5 cohort studies and 12 case-control studies) covering 388,134 subjects (range: 94 to 97,244) were selected. Seven studies (N = 121,585) showed significant dose-response relationships between betel quid consumption and the risk of events. According to pooled analysis, the adjusted RR of betel quid chewers vs. non-chewers was 1.47 (PBetel quid chewing is associated with an increased risk of metabolic disease, cardiovascular disease, and all-cause mortality. Thus, in addition to preventing oral cancer, stopping betel quid use could be a valuable public health measure for metabolic diseases that are showing a rapid increase in South-East Asia and the Western Pacific.

  18. Public funding for medical research in relation to the burden of disease caused by cardiovascular diseases and neoplasms in Germany.

    Krone, Manuel; Dufner, Vera; Wagner, Martin; Gelbrich, Götz; Ertl, Georg; Heuschmann, Peter U

    2018-04-13

    Public funding for medical research in Germany is primarily provided by the German Research Foundation (DFG) and the Federal Ministry of Education and Research (BMBF). The aim of this study was to analyze the amount of national public funding for medical research on predominant causes of death in Germany, cardiovascular diseases and neoplasms, in relation to the burden of these diseases in Germany. Three evaluators categorized medical research projects funded by the DFG or BMBF between 2010 and 2012 into the categories "Diseases of the circulatory system" (with subgroups "Ischemic heart diseases", "Heart failure" and "Cerebrovascular diseases") and "Neoplasms". The total amount of public funding by the national agencies was analyzed in relation to the burden of disease for the respective disease condition. Information on national public funding for medical research of 2091 million euros was available; of those, 246.8 million euros (11.8%) were categorized being spent for research on "Neoplasms", 118.4 million euros (5.7%) for research on "Diseases of the circulatory system". This results in 362.08 euros per case of death, 16.58 euros per year of life lost (YLL) and 16.04 euros per disability-adjusted life year (DALY) for "Neoplasms" and in 113.44 euros per case of death, 8.05 euros per YLL and 7.17 euros per DALY for "Diseases of the circulatory system". In Germany, research on cardiovascular diseases receives a lower share of national public funding for medical research compared to oncological research. These results are comparable to other European countries.

  19. COMPOSITE PEPTIDE COMPOUNDS FOR DIAGNOSIS AND TREATMENT OF DISEASES CAUSED BY PRION PROTEINS

    2004-01-01

    The present invention relates to diseases caused by prion proteins, Novel composite peptide compounds are disclosed which comprise two or more peptides or peptide fragments optionally linked to a backbone and the peptides or peptide fragments are spatially positioned relative to each other so tha....... Other uses of the composite peptide compounds are also disclosed, such as use in diagnostic assays, production of antibodies and uses as vaccine immunogens for the prophylactic protection and therapeutic treatment of subjects against transmissible prion disease.......The present invention relates to diseases caused by prion proteins, Novel composite peptide compounds are disclosed which comprise two or more peptides or peptide fragments optionally linked to a backbone and the peptides or peptide fragments are spatially positioned relative to each other so...

  20. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

    Arsov, Todor

    2011-05-13

    The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final diagnosis. We mapped four families with Kufs disease for whom there was good evidence of autosomal-recessive inheritance and found two peaks on chromosome 15. Three of the families were affected by Kufs type A disease and presented with progressive myoclonus epilepsy, and one was affected by type B (presenting with dementia and motor system dysfunction). Sequencing of a candidate gene in one peak shared by all four families identified no mutations, but sequencing of CLN6, found in the second peak and shared by only the three families affected by Kufs type A disease, revealed pathogenic mutations in all three families. We subsequently sequenced CLN6 in eight other families, three of which were affected by recessive Kufs type A disease. Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease. Mutations in CLN6 are the major cause of recessive Kufs type A disease. The phenotypic differences between variant late-infantile NCL, previously found to be caused by CLN6, and Kufs type A disease are striking; there is a much later age at onset and lack of visual involvement in the latter. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.

  1. Intercontinental spread of a genetically distinctive complex of clones of Neisseria meningitidis causing epidemic disease.

    Caugant, D A; Frøholm, L O; Bøvre, K; Holten, E; Frasch, C E; Mocca, L F; Zollinger, W D; Selander, R K

    1986-07-01

    Strains of Neisseria meningitidis responsible for an epidemic of meningococcal disease occurring in Norway since the mid-1970s and for recent increases in the incidence of disease in several other parts of Europe have been identified by multilocus enzyme electrophoresis as members of a distinctive group of 22 closely related clones (the ET-5 complex). Clones of this complex have also colonized South Africa, Chile, Cuba, and Florida, where they have been identified as the causative agents of recent outbreaks of meningococcal disease. There is strong circumstantial evidence that outbreaks of disease occurring in Miami in 1981 and 1982 were caused in large part by bacteria that reached Florida via human immigrants from Cuba.

  2. Traffic air pollution and mortality from cardiovascular disease and all causes: a Danish cohort study.

    Raaschou-Nielsen, Ole; Andersen, Zorana Jovanovic; Jensen, Steen Solvang; Ketzel, Matthias; Sørensen, Mette; Hansen, Johnni; Loft, Steffen; Tjønneland, Anne; Overvad, Kim

    2012-09-05

    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. 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. 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 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. 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.

  3. Alterations and diseases of the gastrointestinal tract caused by old age

    Bayerl, F.

    1981-01-01

    The dissertation reviews the publications on 'The gastrointestinal tract in old age' since 1941. As in the 1941 publication by Heinrich, particular interest is taken in diagnostic radiology. The lower age limit of the cases described was set at 55 to 60 years. Oesophageal changes ranged from functional disturbances (e.g. atonia, changes in peristalsis, or dilatation) to chronic inflammation, displacement caused by the surrounding organs, and tumours (mainly carcinoma). Formation of diverticula takes an intermediate position. Of the gastric and duodenal changes, hiatal hermia and chronic atrophic gastritis were the most frequent. Ulcers caused by old age differ from 'common' ulcers in some respects, and the symptoms may be confused with those of gastric carcinoma. Early gastric carcinoma is another disease whose incidence increases with age. Thoracic and spinal changes may cause impressions on the stomach. The effects of old age on the time of passage of contrast media, on gastric tone, and on the shape of the stomach remain unclear. Changes caused by old age in the small and large intestine range from formation of diverticula and vascular diseases (e.g. ischaemic colitis and obstruction of the mesenteric vessels) to the frequent carcinoma of the large intestine and rectum. According to this study it has to be supposed that the degenerative atrophic processes of aging and previous diseases occurring increasingly in old age, favour the provocation of ratrogenic injuries. (orig./MG) [de

  4. Analysis of complications in thyroid arterial embolization for hyperthyroidism caused by Graves' disease

    Gao Bulang; Zhao Wei; Huang Jianqiang; Xiang Shutian; Li Liyuan; Li Minghua

    2006-01-01

    Objective: To investigate complications and causes of thyroid arterial embolization for hyperthyroidism caused by Graves' disease. Methods: Twenty-eight patients with hyperthyroidism caused by Graves' disease had been treated through transcathter arterial embolization with mid-term follow up. The thyroid angiography, interventional treatment, complications and causes were investigated. Results Followed up for over one year (12-24 months), mid-term rate of efficiency was 78.6% with recurrent rate of one year being 14.2%. Two patients (7.1%) had brain infarction with one partially recovered after proper therapy and the other died due to subsequent hyperthyroidism crisis. One case had temporary hypothyroidism, and another hypoparathyroidism but no permanent hypothyroidism or hypoparathyroidism occurred. One patient suffered relatively severe post-embolization syndrome. All the other complications disappeared after proper treatment. Followed up for more than a year, no other complications occurred. Conclusion: Misembolization due to regurgitation of embolized agent is one of the most important factors leading to complications of arterial embolization for Graves' disease. In order to reduce complications and improve therapeutic efficacy, it is essential to superselectively catheterize the thyroid, avoid dangerous anastomose, prevent regurgitation misembolization and strictly operate under fluoroscopy. (authors)

  5. How the factoid of wind turbines causing 'vibroacoustic disease' came to be 'irrefutably demonstrated'.

    Chapman, Simon; St George, Alexis

    2013-06-01

    In recent years, claims have proliferated in cyberspace that wind turbines cause a large variety of symptoms and diseases. One of these, "vibroacoustic disease" (VAD) is frequently mentioned. The aim of this study is to examine the quality of the evidence on how VAD came to be associated with wind turbine exposure by wind farm opponents. Searches of the web (Google advanced) and major research databases for papers on VAD and wind turbines. Self-citation analysis of research papers on VAD. Google returned 24,700 hits for VAD and wind turbines. Thirty-five research papers on VAD were found, none reporting any association between VAD and wind turbines. Of the 35 papers, 34 had a first author from a single Portuguese research group. Seventy-four per cent of citations to these papers were self-citations by the group. Median self-citation rates in science are around 7%. Two unpublished case reports presented at conferences were found asserting that VAD was "irrefutably demonstrated" to be caused by wind turbines. The quality of these reports was abject. VAD has received virtually no scientific recognition beyond the group who coined and promoted the concept. There is no evidence of even rudimentary quality that vibroacoustic disease is associated with or caused by wind turbines. The claim that wind turbines cause VAD is a factoid that has gone 'viral' in cyberspace and may be contributing to nocebo effects among those living near turbines. © 2013 The Authors. ANZJPH © 2013 Public Health Association of Australia.

  6. Causes of Death Data in the Global Burden of Disease Estimates for Ischemic and Hemorrhagic Stroke.

    Truelsen, Thomas; Krarup, Lars-Henrik; Iversen, Helle K; Mensah, George A; Feigin, Valery L; Sposato, Luciano A; Naghavi, Mohsen

    2015-01-01

    Stroke mortality estimates in the Global Burden of Disease (GBD) study are based on routine mortality statistics and redistribution of ill-defined codes that cannot be a cause of death, the so-called 'garbage codes' (GCs). This study describes the contribution of these codes to stroke mortality estimates. All available mortality data were compiled and non-specific cause codes were redistributed based on literature review and statistical methods. Ill-defined codes were redistributed to their specific cause of disease by age, sex, country and year. The reassignment was done based on the International Classification of Diseases and the pathology behind each code by checking multiple causes of death and literature review. Unspecified stroke and primary and secondary hypertension are leading contributing 'GCs' to stroke mortality estimates for hemorrhagic stroke (HS) and ischemic stroke (IS). There were marked differences in the fraction of death assigned to IS and HS for unspecified stroke and hypertension between GBD regions and between age groups. A large proportion of stroke fatalities are derived from the redistribution of 'unspecified stroke' and 'hypertension' with marked regional differences. Future advancements in stroke certification, data collections and statistical analyses may improve the estimation of the global stroke burden. © 2015 S. Karger AG, Basel.

  7. Opinions in Denmark on the causes of peptic ulcer disease. A survey among Danish physicians and patients

    Christensen, A H; Gjørup, T; Andersen, I B

    1994-01-01

    The aim of the study was to investigate opinions among Danish patients and physicians on causes of peptic ulcer disease. Fifty-nine patients with an ulcer history and 77 physicians with a special interest in gastroenterology participated. They were given a questionnaire listing 16 possible causes...... of peptic ulcer and indicated for each whether they believed it was a contributory cause of the disease. The patients stated 0-10 causes each (median, 4), and the physicians 3-12 causes (median, 6) (p ... stated more causes than did their male colleagues (p peptic ulcer disease, whereas only around 40% believed that coffee/tea, alcohol, smoking, side effects...

  8. Non-melanoma skin cancer and risk of Alzheimer's disease and all-cause dementia.

    Sigrun A J Schmidt

    Full Text Available Cancer patients may be at decreased risk of Alzheimer's disease. This hypothesis is best developed for non-melanoma skin cancer (NMSC, but supportive epidemiological data are sparse. We therefore conducted a nationwide cohort study of the association between NMSC and Alzheimer's disease (main outcome and all-cause dementia. Using Danish medical databases, we identified adults diagnosed with NMSC between 1 January 1980 and 30 November 2013 (n = 216,221 and a comparison cohort of five individuals matched to each NMSC patient by sex and birth year (n = 1,081,097. We followed individuals from the time of diagnosis, or corresponding date for matched comparators, until a dementia diagnosis, death, emigration, or 30 November 2013, whichever came first. We used stratified Cox regression adjusted for comorbidities to compute hazard ratios (HRs associating NMSC with dementia. We computed cumulative risks of dementia, treating death as a competing risk. NMSC was associated with a HR of 0.95 (95% confidence interval [CI]: 0.92-0.98 for Alzheimer's disease and 0.92 (95% CI: 0.90-0.94 for all-cause dementia. HRs were similar for basal cell and squamous cell carcinoma, the two most common forms of NMSC. Estimates of risk reduction were more pronounced in the beginning of follow-up, reaching null after 5-10 years. At the end of follow-up (34 years, cumulative risk of Alzheimer's disease was 4.6% (95% CI: 4.4%-4.8% among patients with NMSC vs. 4.7% (95% CI: 4.6%-4.9% in the comparison cohort. In conclusion, NMSC was associated with 2%-10% reductions in relative risks of Alzheimer's disease and all-cause dementia. However, these small inverse associations may have been caused by ascertainment bias due to decreased awareness of NMSC tumors in persons with undiagnosed early cognitive impairment or by confounding from a more neuroprotective lifestyle among persons with NMSC.

  9. Cerebrovascular and hypertensive diseases as multiple causes of death in Brazil from 2004 to 2013.

    Villela, P B; Klein, C H; Oliveira, G M M

    2018-06-02

    The proportion of deaths attributed to hypertensive diseases (HYPDs) was only 50% of that registered for cerebrovascular diseases (CBVDs) in 2013 in Brazil. This article aims to evaluate mortality related to HYPDs and CBVDs as multiple causes of death, in Brazil from 2004 to 2013. Analysis of historical series of secondary data obtained from Brazilian official registries. Data about the deaths were obtained from the Mortality Information System of the Brazilian Ministry of Health, available on the DATASUS website. CBVDs and HYPDs were evaluated according to their mentions as the underlying cause of death or entry in any line of the death certificates (DCs), according to their International Statistical Classification of Diseases and Related Health Problems, 10th Revision codes. When CBVDs were the underlying causes of death, HYPDs were mentioned in 40.9% of the DCs. When HYPDs were the underlying causes of death, CBVDs were mentioned in only 5.0%. When CBVDs were mentioned without HYPDs, they were selected as the underlying cause of death 74.4% of the time. When HYPDs were mentioned in DCs without CBVDs, HYPDs were selected 30.0% of the time. In 2004, the frequency of any mention of HYPDs relative to the frequency of HYPDs cited as underlying causes increased fourfold and was followed by a plateau until 2013. In contrast, the frequency of any mention of CBVDs relative to the frequency of CBVDs as underlying causes decreased in the same period. Because this study was based on DC records, it was limited by the way these documents were completed, which may have included lack of record of the causes related to the sequence that culminated in death. When deaths related to HYPDs were evaluated as multiple causes of death, they were mentioned up to four times more often than when they were selected as underlying causes of death. This reinforces the need for better control of hypertension to prevent deaths. Copyright © 2018 The Royal Society for Public Health. Published by

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

    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.

  11. Hyposplenism as a cause of pneumococcal meningoencephalitis in an adult patient with coeliac disease

    Paolo Caraceni

    2013-03-01

    Full Text Available Introduction: Coeliac disease can be associated with hyposplenism and splenic atrophy, which may increase the patient’s risk for fatal infections caused by Streptococcus pneumoniae or Pneumococcus. It is general opinion that many more patients with coeliac disease have died from hyposplenism-related infections than those reported in literature. Case report: A 62-year-old woman with recently diagnosed coeliac disease was hospitalized with high fever, disorientation, and nuchal rigidity. Cerebral computed tomography was negative. Laboratory tests showed an elevated leukocyte count and very high levels of C reactive protein. The cerebrospinal fluid (CSF contained an increased number of mononuclear cells associated with a low glucose level and high protein concentrations. The CSF culture was positive for Streptococcus pneumoniae. Neurological conditions rapidly deteriorated with the onset of coma, and magnetic resonance imaging of the brain revealed initial signs of encephalitis extending above and below the tentorium. Abdominal ultrasonography disclosed splenic hypotrophy that raised the suspicion of hyposplenism. The diagnosis of hyposplenism was confirmed by demonstration of Howell-Jolly bodies in a peripheral blood smear. Discussion: This is the first reported case of pneumococcal meningoencephalitis caused by splenic hypofunction in a patient with coeliac disease. When coeliac disease is diagnosed with a marked delay in an elderly patient, spleen function should always be assessed. If impaired, the patient should undergo vaccination with pneumococcal conjugate vaccine to prevent pneumococcal infections.

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

    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.

  13. Vitamin D status and incident cardiovascular disease and all-cause mortality

    Skaaby, Tea; Husemoen, Lise Lotte Nystrup; Pisinger, Charlotta

    2013-01-01

    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...

  14. Hemolytic disease of the fetus and newborn caused by anti-E

    Usman, Adiyyatu Sa?idu; Mustaffa, Rapiaah; Ramli, Noraida; Diggi, Sirajo A.

    2013-01-01

    Objective: Maternal allo-antibody production is stimulated when fetal red blood cells are positive for an antigen absent on the mother′s red cells. The maternal IgG antibodies produced will pass through the placenta and attack fetal red cells carrying the corresponding antigen. Allo-immune hemolytic disease of the fetus and newborn caused by anti-E rarely occurs. Case summary: We report two cases of anti-E hemolytic diseases in neonates. One of the neonates had severe hemolysis presenting wit...

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

    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.

  16. Calcaneal Insufficiency Fracture Secondary to Celiac Disease-Induced Osteomalacia: A Rare Cause of Heel Pain.

    Kose, Ozkan; Kilicaslan, Omer Faruk; Ozyurek, Selahattin; Ince, Ahmet

    2016-04-01

    Plantar fasciitis is a common cause of plantar heel pain; however, a broad spectrum of disorders may also present with plantar heel pain. A detailed history, physical examination, laboratory testing, and imaging studies may be necessary to reach an accurate diagnosis. Herein, the clinical presentation of a 33-year-old woman with calcaneal insufficiency fracture secondary to celiac disease-induced osteomalacia is presented, and its diagnosis and treatment are discussed. Calcaneal insufficiency fractures should be kept in mind in a patient with celiac disease that presents with heel pain. Therapeutic, Level IV: Case study. © 2015 The Author(s).

  17. Association of Kidney Disease Measures with Cause-Specific Mortality: The Korean Heart Study.

    Yejin Mok

    Full Text Available The link of low estimated glomerular filtration rate (eGFR and high proteinuria to cardiovascular disease (CVD mortality is well known. However, its link to mortality due to other causes is less clear.We studied 367,932 adults (20-93 years old in the Korean Heart Study (baseline between 1996-2004 and follow-up until 2011 and assessed the associations of creatinine-based eGFR and dipstick proteinuria with mortality due to CVD (1,608 cases, cancer (4,035 cases, and other (non-CVD/non-cancer causes (3,152 cases after adjusting for potential confounders.Although cancer was overall the most common cause of mortality, in participants with chronic kidney disease (CKD, non-CVD/non-cancer mortality accounted for approximately half of cause of death (47.0%for eGFR <60 ml/min/1.73 m2 and 54.3% for proteinuria ≥1+. Lower eGFR (<60 vs. ≥60 ml/min/1.73 m2 was significantly associated with mortality due to CVD (adjusted hazard ratio 1.49 [95% CI, 1.24-1.78] and non-CVD/non-cancer causes (1.78 [1.54-2.05]. The risk of cancer mortality only reached significance at eGFR <45 ml/min/1.73 m2 when eGFR 45-59 ml/min/1.73 m2 was set as a reference (1.62 [1.10-2.39]. High proteinuria (dipstick ≥1+ vs. negative/trace was consistently associated with mortality due to CVD (1.93 [1.66-2.25], cancer (1.49 [1.32-1.68], and other causes (2.19 [1.96-2.45]. Examining finer mortality causes, low eGFR and high proteinuria were commonly associated with mortality due to coronary heart disease, any infectious disease, diabetes, and renal failure. In addition, proteinuria was also related to death from stroke, cancers of stomach, liver, pancreas, and lung, myeloma, pneumonia, and viral hepatitis.Low eGFR was associated with CVD and non-CVD/non-cancer mortality, whereas higher proteinuria was consistently related to mortality due to CVD, cancer, and other causes. These findings suggest the need for multidisciplinary prevention and management strategies in individuals with CKD

  18. Association of coffee consumption with all-cause and cardiovascular disease mortality.

    Liu, Junxiu; Sui, Xuemei; Lavie, Carl J; Hebert, James R; Earnest, Conrad P; Zhang, Jiajia; Blair, Steven N

    2013-10-01

    To evaluate the association between coffee consumption and mortality from all causes and from cardiovascular disease. Data from the Aerobics Center Longitudinal Study representing 43,727 participants with 699,632 person-years of follow-up were included. Baseline data were collected by an in-person interview on the basis of standardized questionnaires and a medical examination, including fasting blood chemistry analysis, anthropometry, blood pressure, electrocardiography, and a maximal graded exercise test, between February 3, 1971, and December 30, 2002. Cox regression analysis was used to quantify the association between coffee consumption and all-cause and cause-specific mortality. During the 17-year median follow-up, 2512 deaths occurred (804 [32%] due to cardiovascular disease). In multivariate analyses, coffee intake was positively associated with all-cause mortality in men. Men who drank more than 28 cups of coffee per week had higher all-cause mortality (hazard ratio [HR], 1.21; 95% CI, 1.04-1.40). However, after stratification based on age, younger (coffee consumption (>28 cups per week) and all-cause mortality after adjusting for potential confounders and fitness level (HR, 1.56; 95% CI, 1.30-1.87 for men; and HR, 2.13; 95% CI, 1.26-3.59 for women). In this large cohort, a positive association between coffee consumption and all-cause mortality was observed in men and in men and women younger than 55 years. On the basis of these findings, it seems appropriate to suggest that younger people avoid heavy coffee consumption (ie, averaging >4 cups per day). However, this finding should be assessed in future studies of other populations. Copyright © 2013 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  19. Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015 : a systematic analysis for the Global Burden of Disease Study 2015

    Wang, Haidong; Naghavi, Mohsen; Allen, Christine; Barber, Ryan M.; Bhutta, Zulfiqar A.; Carter, Austin; Casey, Daniel C.; Charlson, Fiona J.; Chen, Alan Zian; Coates, Matthew M.; Coggeshall, Megan; Dandona, Lalit; Dicker, Daniel J.; Erskine, Holly E.; Ferrari, Alize J.; Fitzmaurice, Christina; Foreman, Kyle; Forouzanfar, Mohammad H.; Fraser, Maya S.; Pullman, Nancy; Gething, Peter W.; Goldberg, Ellen M.; Graetz, Nicholas; Haagsma, Juanita A.; Hay, Simon I.; Huynh, Chantal; Johnson, Catherine; Kassebaum, Nicholas J.; Kinfu, Yohannes; Kulikoff, Xie Rachel; Kutz, Michael; Kyu, Hmwe H.; Larson, Heidi J.; Leung, Janni; Liang, Xiaofeng; Lim, Stephen S.; Lind, Margaret; Lozano, Rafael; Marquez, Neal; Mensah, George A.; Mikesell, Joe; Mokdad, Ali H.; Mooney, Meghan D.; Nguyen, Grant; Nsoesie, Elaine; Pigott, David M.; Amare, Azmeraw T.; Hoek, Hans W.; Singh, Abhishek; Tura, Abera Kenay

    2016-01-01

    Background Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a comprehensive assessment of all-cause and cause-specific mortality for 249 causes

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

    Foord Steven M

    2008-10-01

    Full Text Available Abstract 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

  1. Assessing the burden of medical impoverishment by cause: a systematic breakdown by disease in Ethiopia.

    Verguet, Stéphane; Memirie, Solomon Tessema; Norheim, Ole Frithjof

    2016-10-21

    Out-of-pocket (OOP) medical expenses often lead to catastrophic expenditure and impoverishment in low- and middle-income countries. Yet, there has been no systematic examination of which specific diseases and conditions (e.g., tuberculosis, cardiovascular disease) drive medical impoverishment, defined as OOP direct medical costs pushing households into poverty. We used a cost and epidemiological model to propose an assessment of the burden of medical impoverishment in Ethiopia, i.e., the number of households crossing a poverty line due to excessive OOP direct medical expenses. We utilized disease-specific mortality estimates from the Global Burden of Disease study, epidemiological and cost inputs from surveys, and secondary data from the literature to produce a count of poverty cases due to OOP direct medical costs per specific condition. In Ethiopia, in 2013, and among 20 leading causes of mortality, we estimated the burden of impoverishment due to OOP direct medical costs to be of about 350,000 poverty cases. The top three causes of medical impoverishment were diarrhea, lower respiratory infections, and road injury, accounting for 75 % of all poverty cases. We present a preliminary attempt for the estimation of the burden of medical impoverishment by cause for high mortality conditions. In Ethiopia, medical impoverishment was notably associated with illness occurrence and health services utilization. Although currently used estimates are sensitive to health services utilization, a systematic breakdown of impoverishment due to OOP direct medical costs by cause can provide important information for the promotion of financial risk protection and equity, and subsequent design of health policies toward universal health coverage, reduction of direct OOP payments, and poverty alleviation.

  2. Dehydration as a Cause of Chronic Kidney Disease: Role of Fructokinase

    2016-10-01

    hyperfiltration and albuminuria in humans and laboratory animals (2- 4). In this study we sought to examine the role of vasopressin in our heat stress...and Use of Laboratory Animals . The animal protocol was approved by the Animal Care and Use Committee of the University of Colorado. Biochemical...SUPPLEMENTARY NOTES 14. ABSTRACT Our studies evaluate how recurrent dehydration can cause chronic kidney disease, an important question for the

  3. The causes of skin damage and leg ulceration in chronic venous disease.

    Smith, Philip Coleridge

    2006-09-01

    Chronic venous disease with skin changes of the leg is a common condition affecting up to 1 in 20 people in westernized countries. The causes of this problem are not fully understood, although research in recent years has revealed a number of important mechanisms that contribute to the disease process. Patients with chronic venous disease suffer persistently raised pressures in their deep and superficial veins in the lower limb. Leucocytes become "trapped" in the circulation of the leg during periods of venous hyper-tension produced by sitting or standing. Studies of the plasma levels of neutrophil granule enzymes shows that these are increased during periods of venous hypertension, suggesting that this causes activation of the neutrophils. Investigation of the leucocyte surface ligands CD11b and CD62L shows that the more activated neutrophils and monocytes are sequestered during venous hypertension. Measurement of plasma levels of the soluble parts of the endothelial adhesion molecules VCAM, ICAM, and ELAM show that these are all elevated in patients with chronic venous disease compared to controls. Following 30 minutes of venous hypertension produced by standing, these levels are further increased. These data suggest that venous hypertension causes neutrophil and monocyte activation, which in turn causes injury to the endothelium. Chronic injury to the endothelium leads to a chronic inflammatory condition of the skin that we know clinically as lipodermatosclerosis. This is mediated by perivascular inflammatory cells, principally macrophages, in the skin microcirculation. These stimulate fibroblasts in the skin leading to tissue remodeling and laying down of fibrous tissue. Vascular endothelial growth factor stimulates proliferation of capillaries within the skin. Skin in this state has the potential to ulcerate in response to minor injury.

  4. Does radioiodine cause the ophthalmopathy of Graves' disease; Editorial

    McDougall, I.R. (Stanford Univ., CA (United States). Medical Center)

    1993-02-01

    This editorial briefly reviews studies which might answer the question as to whether radioiodine treatment causes the ophthalmopathy of Graves' disease. However, the data do not allow any conclusion one way or the other. Other possible causal factors are discussed. Further studies are required to define whether treatment of hyperthyroidism aggravates the ophthalmopathy and whether one thereby is worse than the others and by how much. (UK).

  5. Pinpointing Synaptic Loss Caused by Alzheimer?s Disease with fMRI

    Brickman, Adam M.; Small, Scott A.; Fleisher, Adam

    2009-01-01

    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 t...

  6. Fluoride Exposure in Early Life as the Possible Root Cause of Disease In Later Life.

    Nakamoto, Tetsuo; Rawls, H Ralph

    2018-05-15

    Fluoride, one of the most celebrated ingredients for the prevention of dental caries in the 20th century, has also been controversial for its use in dentifrices and other applications. In the current review, we have concentrated primarily on early-life exposure to fluoride and how it may affect the various organs. The most recent controversial aspects of fluoride are related to toxicity of the developing brain and how it may possibly result in the decrease of intelligence quotient (IQ), autism, and calcification of the pineal gland. In addition, it has been reported to have possible effects on bone and thyroid glands. If nutritional stress is applied during a critical period of growth and development, the organ(s) and/or body will never recover once they pass through the critical period. For example, if animals are force-fed during experiments, they will simply get fat but never reach the normal size. Although early-life fluoride exposure causing fluorosis is well reported in the literature, the dental profession considers it primarily as an esthetic rather than a serious systemic problem. In the current review, we wanted to raise the possibility of future disease as a result of early-life exposure to fluoride. It is not currently known how fluoride will become a cause of future disease. Studies of other nutritional factors have shown that the effects of early nutritional stress are a cause of disease in later life.

  7. Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease

    A.A. Mhanni

    2016-03-01

    Full Text Available Gaucher disease (OMIM #230800 is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System. The disease is classified into three main phenotypes based on the presence or absence of neurological manifestations: non-neuronopathic (type 1, acute neuronopathic (type 2 and chronic neuronopathic (type 3. Typical manifestations include hepatosplenomegaly, skeletal deformities, hematological abnormalities, interstitial lung fibrosis and neurodegeneration in neuronopathic cases. Mesenteric lymphadenopathy with resultant protein losing enteropathy (PLE has only been rarely described. Mesenteric lymphadenopathy may lead to intestinal lymphatic obstruction and secondary lymphangiectasia resulting in chronic diarrhea, abdominal pain and weight loss. Fecal protein loss with secondary hypoalbuminemia can be significant. We report a male with Chronic Neuronopathic Gaucher disease (GD (homozygous for c.1448T>C (NM_000157.3 GBA mutation who at 16 years of age developed intractable abdominal pain, diarrhea and weight loss. This was caused by PLE secondary to intestinal lymphangiectasia caused by calcified mesenteric lymphadenopathy despite prior long term enzyme replacement therapy (ERT and/or substrate reduction therapy (SRT. His older similarly affected sister who had been receiving treatment with ERT and/or SRT remains stable on these treatments with no evidence of mesenteric lymphadenopathy. Medical management with total parenteral nutrition, daily medium chain triglyceride-oil (MCT supplementation, low dose oral budesonide, continued oral SRT and an increased dose of parenteral ERT has stabilized his condition with resolution of the gastrointestinal symptoms and appropriate weight gain.

  8. Obstructive sleep apnea syndrome as a novel cause for Ménière's disease.

    Nakayama, Meiho; Kabaya, Kayoko

    2013-10-01

    Several recent reports have described the relation between sleep disorders and inner ear function. There are also many reports that insomnia is observed in Ménière's patients. However, the possibility that obstructive sleep apnea syndrome (OSAS) might affect Ménière's disease or other neurotological consequences was not noticed, until studies using polysomnography for these patients. OSAS may cause not only vestibular but also auditory dysfunction. Several reports suggest that insufficient supply of blood via the vertebral basilar artery, which supplies the inner ear, may cause hydropic distension of the endolymphatic system and lead to Ménière's disease. However, few people noticed that in OSAS this insufficient supply might be exacerbated in the night while patients are sleeping. Even more, we should note that Ménière's patients may not only suffer from insomnia, but also that the impaired sleep might be caused by OSAS. Physicians routinely prescribe benzodiazepines or other drugs that have hypnotic, muscle relaxing, antianxiety, and anticonvulsant properties for insomnia, but these properties may have the effect of aggravating OSAS symptoms. Continuous positive airway pressure (CPAP) is an effective therapy used worldwide for the treatment of OSAS. CPAP or surgeries for OSAS may also be useful as one aspect of treatment for Ménière's disease patients with OSAS.

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

    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. Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.

    Raffler, Gabriele; Zitt, Emanuel; Sprenger-Mähr, Hannelore; Nagel, Mato; Lhotta, Karl

    2016-04-01

    Uromodulin (UMOD)-associated kidney disease belongs to the group of autosomal dominant interstitial kidney diseases and is caused by mutations in the UMOD gene. Affected patients present with hyperuricemia, gout, and progressive renal failure. The disease is thought to be very rare but is probably underdiagnosed. Two index patients from two families with tubulointerstitial nephropathy and hyperuricemia were examined, including blood and urine chemistry, ultrasound, and mutation analysis of the UMOD gene. In addition, other available family members were studied. In a 46-year-old female patient with a fractional excretion of uric acid of 3 %, analysis of the UMOD gene revealed a p.W202S missense mutation. The same mutation was found in her 72-year-old father, who suffers from gout and end-stage renal disease. The second index patient was a 47-year-old female with chronic kidney disease and gout for more than 10 years. Her fractional uric acid excretion was 3.5 %. Genetic analysis identified a novel p.H250Q UMOD mutation that was also present in her 12-year-old son, who had normal renal function and uric acid levels. In patients suffering from chronic tubulointerstitial nephropathy, hyperuricemia, and a low fractional excretion of uric acid mutation, analysis of the UMOD gene should be performed to diagnose UMOD-associated kidney disease.

  11. Causes and risk factors of falls in patients with Parkinson's disease.

    Rudzińska, Monika; Bukowczan, Sylwia; Banaszkiewicz, Krzysztof; Stozek, Joanna; Zajdel, Katarzyna; Szczudlik, Andrzej

    2008-01-01

    Falls are a common and serious problem among Parkinson's disease (PD) patients. However, knowledge about the causes and risk factors of falls is limited. There have been a few attempts to classify the causes of falls. The classification suggested by Olanow seems to be the most comprehensive one. The aim of this study was to analyze retrospectively the causes of falls and risk factors of falls in PD patients. One hundred and four patients with moderately advanced PD were included in the study. The patients were asked to describe the circumstances and consequences of falls which occurred during 12 months preceding the examination. The falls were classified according to the Olanow classification of causes of falls. Fifty-two patients (50%) reported at least one fall during the previous year with a mean number of 1.5 falls per year. The most common causes of falls were environmental factors, sudden falls and postural instability. There were no falls caused by severe dyskinesia, drugs or cardiovascular disorders. The only independent risk factors of the recurrent falls identified in this study were UPDRS part II score (OR 1.17, 95% CI: 1.02-1.37) and Mini Mental State Examination score (OR 0.85, 95% CI: 0.72-0.99). Considering these results we may be able to prevent most falls by means of the education of patients about environmental factors and using adequate rehabilitation techniques concentrating on postural stability and gait.

  12. Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease

    Joana Neves

    2017-06-01

    Full Text Available Emerging evidence suggests that pulmonary iron accumulation is implicated in a spectrum of chronic lung diseases. However, the mechanism(s involved in pulmonary iron deposition and its role in the in vivo pathogenesis of lung diseases remains unknown. Here we show that a point mutation in the murine ferroportin gene, which causes hereditary hemochromatosis type 4 (Slc40a1C326S, increases iron levels in alveolar macrophages, epithelial cells lining the conducting airways and lung parenchyma, and in vascular smooth muscle cells. Pulmonary iron overload is associated with oxidative stress, restrictive lung disease with decreased total lung capacity and reduced blood oxygen saturation in homozygous Slc40a1C326S/C326S mice compared to wild-type controls. These findings implicate iron in lung pathology, which is so far not considered a classical iron-related disorder.

  13. First report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) causing severe disease in Allomyrina dichotoma in Korea.

    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. © The Author 2015. Published by Oxford University Press on behalf of the Entomological Society of America.

  14. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

    David B. McGuigan

    2017-07-01

    Full Text Available Mutations in the EYS (eyes shut homolog gene are a common cause of autosomal recessive (ar retinitis pigmentosa (RP. Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT, and en face autofluoresence imaging, a cohort of 15 patients (ages 12–51 at first visit, some of whom had longitudinal data of function and structure. Rod sensitivity was able to be measured by chromatic perimetry in most patients at their earliest visits and some patients retained patchy rod function into the fifth decade of life. As expected from RP, cone sensitivity persisted after rod function was no longer measurable. The photoreceptor nuclear layer of the central retina was abnormal except at the fovea in most patients at first visit. Perifoveal disease measured over a period of years indicated that photoreceptor structural loss was followed by dysmorphology of the inner retina and loss of retinal pigment epithelial integrity. Although there could be variability in severity, preliminary analyses of the rates of vision loss suggested that EYS is a more rapidly progressive disease than other ciliopathies causing arRP, such as USH2A and MAK.

  15. Epidemiology and Control of Strawberry Bacterial Angular Leaf Spot Disease Caused by Xanthomonas fragariae

    Da-Ran Kim

    2016-08-01

    Full Text Available 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.

  16. How tobacco smoke causes disease: the biology and behavioral basis for smoking-attributable disease : a report of the Surgeon General

    2010-01-01

    .... This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke...

  17. A mouse model for studying viscerotropic disease caused by yellow fever virus infection.

    Kathryn C Meier

    2009-10-01

    Full Text Available Mosquito-borne yellow fever virus (YFV causes highly lethal, viscerotropic disease in humans and non-human primates. Despite the availability of efficacious live-attenuated vaccine strains, 17D-204 and 17DD, derived by serial passage of pathogenic YFV strain Asibi, YFV continues to pose a significant threat to human health. Neither the disease caused by wild-type YFV, nor the molecular determinants of vaccine attenuation and immunogenicity, have been well characterized, in large part due to the lack of a small animal model for viscerotropic YFV infection. Here, we describe a small animal model for wild-type YFV that manifests clinical disease representative of that seen in primates without adaptation of the virus to the host, which was required for the current hamster YF model. Investigation of the role of type I interferon (IFN-alpha/beta in protection of mice from viscerotropic YFV infection revealed that mice deficient in the IFN-alpha/beta receptor (A129 or the STAT1 signaling molecule (STAT129 were highly susceptible to infection and disease, succumbing within 6-7 days. Importantly, these animals developed viscerotropic disease reminiscent of human YF, instead of the encephalitic signs typically observed in mice. Rapid viremic dissemination and extensive replication in visceral organs, spleen and liver, was associated with severe pathologies in these tissues and dramatically elevated MCP-1 and IL-6 levels, suggestive of a cytokine storm. In striking contrast, infection of A129 and STAT129 mice with the 17D-204 vaccine virus was subclinical, similar to immunization in humans. Although, like wild-type YFV, 17D-204 virus amplified within regional lymph nodes and seeded a serum viremia in A129 mice, infection of visceral organs was rarely established and rapidly cleared, possibly by type II IFN-dependent mechanisms. The ability to establish systemic infection and cause viscerotropic disease in A129 mice correlated with infectivity for A129

  18. A mouse model for studying viscerotropic disease caused by yellow fever virus infection.

    Meier, Kathryn C; Gardner, Christina L; Khoretonenko, Mikhail V; Klimstra, William B; Ryman, Kate D

    2009-10-01

    Mosquito-borne yellow fever virus (YFV) causes highly lethal, viscerotropic disease in humans and non-human primates. Despite the availability of efficacious live-attenuated vaccine strains, 17D-204 and 17DD, derived by serial passage of pathogenic YFV strain Asibi, YFV continues to pose a significant threat to human health. Neither the disease caused by wild-type YFV, nor the molecular determinants of vaccine attenuation and immunogenicity, have been well characterized, in large part due to the lack of a small animal model for viscerotropic YFV infection. Here, we describe a small animal model for wild-type YFV that manifests clinical disease representative of that seen in primates without adaptation of the virus to the host, which was required for the current hamster YF model. Investigation of the role of type I interferon (IFN-alpha/beta) in protection of mice from viscerotropic YFV infection revealed that mice deficient in the IFN-alpha/beta receptor (A129) or the STAT1 signaling molecule (STAT129) were highly susceptible to infection and disease, succumbing within 6-7 days. Importantly, these animals developed viscerotropic disease reminiscent of human YF, instead of the encephalitic signs typically observed in mice. Rapid viremic dissemination and extensive replication in visceral organs, spleen and liver, was associated with severe pathologies in these tissues and dramatically elevated MCP-1 and IL-6 levels, suggestive of a cytokine storm. In striking contrast, infection of A129 and STAT129 mice with the 17D-204 vaccine virus was subclinical, similar to immunization in humans. Although, like wild-type YFV, 17D-204 virus amplified within regional lymph nodes and seeded a serum viremia in A129 mice, infection of visceral organs was rarely established and rapidly cleared, possibly by type II IFN-dependent mechanisms. The ability to establish systemic infection and cause viscerotropic disease in A129 mice correlated with infectivity for A129-derived, but not WT

  19. Socioeconomic inequalities in cause-specific mortality after disability retirement due to different diseases.

    Polvinen, A; Laaksonen, M; Gould, R; Lahelma, E; Leinonen, T; Martikainen, P

    2015-03-01

    Socioeconomic inequalities in both disability retirement and mortality are large. The aim of this study was to examine socioeconomic differences in cause-specific mortality after disability retirement due to different diseases. We used administrative register data from various sources linked together by Statistics Finland and included an 11% sample of the Finnish population between the years 1987 and 2007. The data also include an 80% oversample of the deceased during the follow-up. The study included men and women aged 30-64 years at baseline and those who turned 30 during the follow-up. We used Cox regression analysis to examine socioeconomic differences in mortality after disability retirement. Socioeconomic differences in mortality after disability retirement were smaller than in the population in general. However, manual workers had a higher risk of mortality than upper non-manual employees after disability retirement due to mental disorders and cardiovascular diseases, and among men also diseases of the nervous system. After all-cause disability retirement, manual workers ran a higher risk of cardiovascular and alcohol-related death. However, among men who retired due to mental disorders or cardiovascular diseases, differences in social class were found for all causes of death examined. For women, an opposite socioeconomic gradient in mortality after disability retirement from neoplasms was found. Conclusions: The disability retirement process leads to smaller socioeconomic differences in mortality compared with those generally found in the population. This suggests that the disability retirement system is likely to accurately identify chronic health problems with regard to socioeconomic status. © 2014 the Nordic Societies of Public Health.

  20. Possibility of biological control of primocane fruiting raspberry disease caused by Fusarium sambucinum.

    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.

  1. An overall estimation of losses caused by diseases in the Brazilian fish farms.

    Tavares-Dias, Marcos; Martins, Maurício Laterça

    2017-12-01

    Parasitic and infectious diseases are common in finfish, but are difficult to accurately estimate the economic impacts on the production in a country with large dimensions like Brazil. The aim of this study was to estimate the costs caused by economic losses of finfish due to mortality by diseases in Brazil. A model for estimating the costs related to parasitic and bacterial diseases in farmed fish and an estimative of these economic impacts are presented. We used official data of production and mortality of finfish for rough estimation of economic losses. The losses herein presented are related to direct and indirect economic costs for freshwater farmed fish, which were estimated in US$ 84 million per year. Finally, it was possible to establish by the first time an estimative of overall losses in finfish production in Brazil using data available from production. Therefore, this current estimative must help researchers and policy makers to approximate the economic costs of diseases for fish farming industry, as well as for developing of public policies on the control measures of diseases and priority research lines.

  2. COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis

    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

  3. [Disease burden caused by suicide in the Chinese population, in 1990 and 2013].

    Gao, X; Wang, L H; Jin, Y; Ye, P P; Yang, L; Er, Y L; Deng, X; Wang, Y; Duan, L L

    2017-10-10

    Objective: To provide basic suicide prevention strategy through analyzing the disease burden of suicide in the Chinese population, in 1990 and 2013. Methods: Indicators including mortality rate, years of life lost due to premature mortality (YLL), years lived with disability (YLD), and disability-adjusted of life years (DALY) on suicide, were from the results of Global Burden of Disease 2013 and used to describe the burden of disease caused by suicide in Chinese population. Data described the disease burden of suicide in China by comparing the corresponding parameters in 1990 and 2013. Results: In 2013, the standard mortality on suicide was 9.08 per 100 000, and 73.39 per 100 000 in the 80 and above year-old, with the highest rates on DALY and YLL seen in the 75-79-year-old. Each parameter related to suicide burden in males appeared higher than that in females. Compare to data in the 1990s, these parameters declined in 2013, especially seen in females. The rate of YLLs/YLDs on suicide was 90.03 in 2013, 89.83 in males and 89.00 in females. Conclusion: The disease burden of suicide decreased sharply between 1990 and 2013 but was still a serious issue in the elderly that called for more attention.

  4. Chronic kidney disease of uncertain etiology in Sri Lanka: Are leptospirosis and Hantaviral infection likely causes?

    Gamage, Chandika Damesh; Sarathkumara, Yomani Dilukshi

    2016-06-01

    Chronic kidney disease of uncertain etiology (CKDu) has been a severe burden and a public health crisis in Sri Lanka over the past two decades. Many studies have established hypotheses to identify potential risk factors although causative agents, risk factors and etiology of this disease are still uncertain. Several studies have postulated that fungal and bacterial nephrotoxins are a possible etiological factor; however, the precise link between hypothesized risk factors and the pathogenesis of chronic kidney disease has yet to be proven in prior studies. Leptospirosis and Hantavirus infections are important zoonotic diseases that are naturally maintained and transmitted via infected rodent populations and which present similar clinical and epidemiological features. Both infections are known to be a cause of acute kidney damage that can proceed into chronic renal failure. Several studies have reported presence of both infections in Sri Lanka. Therefore, we hypothesized that pathogenic Leptospira or Hantavirus are possible causative agents of acute kidney damage which eventually progresses to chronic kidney disease in Sri Lanka. The proposed hypothesis will be evaluated by means of an observational study design. Past infection will be assessed by a cross-sectional study to detect the presence of IgG antibodies with further confirmatory testing among chronic kidney disease patients and individuals from the community in selected endemic areas compared to low prevalence areas. Identification of possible risk factors for these infections will be followed by a case-control study and causality will be further determined with a cohort study. If the current hypothesis is true, affected communities will be subjected for medical interventions related to the disease for patient management while considering supportive therapies. Furthermore and possibly enhance their preventive and control measures to improve vector control to decrease the risk of infection. Copyright © 2016

  5. Causes of death in a contemporary adult congenital heart disease cohort.

    Yu, Christopher; Moore, Benjamin M; Kotchetkova, Irina; Cordina, Rachael L; Celermajer, David S

    2018-04-17

    The life expectancy of patients with congenital heart disease (CHD) has significantly improved with advances in their paediatric medical care. Mortality patterns are changing as a result. Our study aims to describe survival and causes of death in a contemporary cohort of adult patients with CHD. We reviewed 3068 patients in our adult CHD database (age ≥16 years, seen at least once in our centre between 2000 and 2015), and documented the number and causes of death, via Australia's National Death Index. Survival and mortality patterns were analysed by complexity of CHD and by underlying congenital diagnosis. Our cohort comprised 3068 adult patients (53% male). The distribution of patients (per the Bethesda classification) was 47% simple, 34% moderate and 18% complex (1% not classifiable). Over a median follow-up of 6.2 years (IQR 3.5-10.4), 341 patients (11%) died with an incidence of 0.4 deaths/100 patient years (py). Survival was significantly worse with increasing complexity of CHD (pdeaths/100 py with a median age of death 70 years, and in the complex group was 1.0 death/100 py with a median age of death 34 years. Overall, non-cardiac causes of death outnumbered cardiac causes, at 54% and 46%, respectively. The leading single cause of death was heart failure (17%), followed by malignancy (13%). Simple adult CHD patients mostly died due to non-cardiac causes such as malignancy. Perioperative mortality only accounted for 5% of deaths. Premature death is common in adults with CHD. Although heart failure remains the most common cause of death, in the contemporary era in a specialist CHD centre, non-cardiac related deaths outnumber cardiac deaths, particularly in those with simple CHD lesions. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  6. Evaluation of bakanae disease progression caused by Fusarium fujikuroi in Oryza sativa L.

    Hwang, In Sun; Kang, Woo-Ri; Hwang, Duk-Ju; Bae, Shin-Chul; Yun, Sung-Hwan; Ahn, Il-Pyung

    2013-12-01

    Bakanae disease caused by Fusarium fujikuroi is an important fungal disease in rice. Among the seven strains isolated from symptomatic rice grains in this study, one strain, FfB14, triggered severe root growth inhibition and decay in the crown and root of rice seedlings. The remaining six strains caused typical Bakanae symptoms such as etiolation and abnormal succulent rice growth. To reveal the relationship between mycelial growth in the infected tissues and Bakanae disease progression, we have established a reliable quantification method using real time PCR that employs a primer pair and dual-labeled probe specific to a unigene encoding F. fujikuroi PNG1 (FfPNG1), which is located upstream of the fumonisin biosynthesis gene cluster. Plotting the crossing point (CP) values from the infected tissue DNAs on a standard curve revealed the active fungal growth of FfB14 in the root and crown of rice seedlings, while the growth rate of FfB20 in rice was more than 4 times lower than FfB14. Massive infective mycelial growth of FfB14 was evident in rice stems and crown; however, FfB20 did not exhibit vigorous growth. Our quantitative evaluation system is applicable for the identification of fungal virulence factors other than gibberellin.

  7. Hemolytic disease of the fetus and newborn caused by anti-E

    Adiyyatu Sa′idu Usman

    2013-01-01

    Full Text Available Objective: Maternal allo-antibody production is stimulated when fetal red blood cells are positive for an antigen absent on the mother′s red cells. The maternal IgG antibodies produced will pass through the placenta and attack fetal red cells carrying the corresponding antigen. Allo-immune hemolytic disease of the fetus and newborn caused by anti-E rarely occurs. Case summary: We report two cases of anti-E hemolytic diseases in neonates. One of the neonates had severe hemolysis presenting with severe anemia, thrombocytopenia, and conjugated hyperbilirubinemia, while the other had moderate anemia and unconjugated hyperbilrubinemia. Although both the neonates were treated by phototherapy and intravenous immunoglobulin, one of them received double volume exchange transfusion. Conclusion: There appeared to be an increase in the occurrence of hemolytic disease of the fetus and newborn caused by Rh antibodies other than anti-D. In this case report, both patients presented with anemia and hyperbilirubinemia but were successfully treated, with a favorable outcome.

  8. Structural consequences of amino acid substitutions causing Tay-Sachs disease.

    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.

  9. Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1.

    Chen, Jonathan L; VanEtten, Damian M; Fountain, Matthew A; Yildirim, Ilyas; Disney, Matthew D

    2017-07-11

    RNA repeat expansions cause a host of incurable, genetically defined diseases. The most common class of RNA repeats consists of trinucleotide repeats. These long, repeating transcripts fold into hairpins containing 1 × 1 internal loops that can mediate disease via a variety of mechanism(s) in which RNA is the central player. Two of these disorders are Huntington's disease and myotonic dystrophy type 1, which are caused by r(CAG) and r(CUG) repeats, respectively. We report the structures of two RNA constructs containing three copies of a r(CAG) [r(3×CAG)] or r(CUG) [r(3×CUG)] motif that were modeled with nuclear magnetic resonance spectroscopy and simulated annealing with restrained molecular dynamics. The 1 × 1 internal loops of r(3×CAG) are stabilized by one-hydrogen bond (cis Watson-Crick/Watson-Crick) AA pairs, while those of r(3×CUG) prefer one- or two-hydrogen bond (cis Watson-Crick/Watson-Crick) UU pairs. Assigned chemical shifts for the residues depended on the identity of neighbors or next nearest neighbors. Additional insights into the dynamics of these RNA constructs were gained by molecular dynamics simulations and a discrete path sampling method. Results indicate that the global structures of the RNA are A-form and that the loop regions are dynamic. The results will be useful for understanding the dynamic trajectory of these RNA repeats but also may aid in the development of therapeutics.

  10. Thiopurines, a previously unrecognised cause for fatigue in patients with inflammatory bowel disease.

    Lee, Thomas W T; Iser, John H; Sparrow, Miles P; Newnham, Evan D; Headon, Belinda J; Gibson, Peter R

    2009-09-01

    Active inflammatory bowel disease, anaemia, iron deficiency and depression, alone or in combination, are known contributing factors of fatigue in inflammatory bowel disease. However, in some patients, fatigue cannot be attributed to known causes. Thiopurines are not a recognized cause. To describe the clinical scenario of a series of patients where thiopurines were the likely cause of fatigue. The clinical scenario of 5 patients was examined with specific reference to the temporal association of thiopurine therapy with fatigue, the effect of its withdrawal and rechallenge, and drug specificity. The onset of severe fatigue was related to the introduction of azathioprine or 6-mercaptopurine, rapid relief was experienced on its withdrawal in all patients, and fatigue rapidly occurred on rechallenge. The speed of onset was rapid in two patients and in the context of gradual withdrawal of moderate steroid dose, but recurred rapidly on rechallenge when not on steroids. Marked fatigue is a previously unrecognized adverse effect of thiopurines. It does not appear to be drug-specific. Its onset might be masked by concurrent steroid therapy.

  11. Traffic air pollution and mortality from cardiovascular disease and all causes: a Danish cohort study

    Raaschou-Nielsen Ole

    2012-09-01

    Full Text Available Abstract 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  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.

  12. Citrus leprosis virus N: A New Dichorhavirus Causing Citrus Leprosis Disease.

    Ramos-González, Pedro Luis; Chabi-Jesus, Camila; Guerra-Peraza, Orlene; Tassi, Aline Daniele; Kitajima, Elliot Watanabe; Harakava, Ricardo; Salaroli, Renato Barbosa; Freitas-Astúa, Juliana

    2017-08-01

    Citrus leprosis (CL) is a viral disease endemic to the Western Hemisphere that produces local necrotic and chlorotic lesions on leaves, branches, and fruit and causes serious yield reduction in citrus orchards. Samples of sweet orange (Citrus × sinensis) trees showing CL symptoms were collected during a survey in noncommercial citrus areas in the southeast region of Brazil in 2013 to 2016. Transmission electron microscopy analyses of foliar lesions confirmed the presence of rod-like viral particles commonly associated with CL in the nucleus and cytoplasm of infected cells. However, every attempt to identify these particles by reverse-transcription polymerase chain reaction tests failed, even though all described primers for the detection of known CL-causing cileviruses and dichorhaviruses were used. Next-generation sequencing of total RNA extracts from three symptomatic samples revealed the genome of distinct, although highly related (>92% nucleotide sequence identity), viruses whose genetic organization is similar to that of dichorhaviruses. The genome sequence of these viruses showed trees and those used for the transmission of one of the characterized isolates to Arabidopsis plants were anatomically recognized as Brevipalpus phoenicis sensu stricto. Molecular and biological features indicate that the identified viruses belong to a new species of CL-associated dichorhavirus, which we propose to call Citrus leprosis N dichorhavirus. Our results, while emphasizing the increasing diversity of viruses causing CL disease, lead to a reevaluation of the nomenclature of those viruses assigned to the genus Dichorhavirus. In this regard, a comprehensive discussion is presented.

  13. The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease

    Angeli, Aikaterini V.; Shoai, Maryam; Deas, Emma; Houlden, Henry; Mehta, Atul; Hughes, Derralynn; Cox, Timothy M.; Deegan, Patrick; Schapira, Anthony H.; Lees, Andrew J.; Limousin, Patricia; Jarman, Paul R.; Bhatia, Kailash P.; Wood, Nicholas W.; Hardy, John; Foltynie, Tom

    2014-01-01

    Background Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher’s disease (GD), are the strongest known risk factor for Parkinson’s disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD. Methods One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing. Results We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD. Conclusions Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease. PMID:23225227

  14. Opinions in Denmark on the causes of peptic ulcer disease. A survey among Danish physicians and patients

    Christensen, A H; Gjørup, T; Andersen, I B

    1994-01-01

    of medicine, and working conditions played a causal role. Around 95% of the physicians indicated that medical drugs and smoking were contributory causes of peptic ulcer disease, and around 80% that alcohol and psychologic factors were so. Only 30-40% of the physicians believed that coffee/tea, food habits...... stated more causes than did their male colleagues (p smoking, side effects......, infection, and working conditions could play a causal role in ulcer disease. It is concluded that the opinion on causal agents in peptic ulcer disease differ considerably among both patients and physicians. Opinions on causes of diseases may influence the way we treat and advise our patients, and attempts...

  15. Causes and timing of end-stage renal disease after living kidney donation.

    Matas, Arthur J; Berglund, Danielle M; Vock, David M; Ibrahim, Hassan N

    2018-05-01

    End-stage renal disease (ESRD) is a risk after kidney donation. We sought, in a large cohort of kidney donors, to determine the causes of donor ESRD, the interval from donation to ESRD, the role of the donor/recipient relationship, and the trajectory of the estimated GFR (eGFR) from donation to ESRD. From 1/1/1963 thru 12/31/2015, 4030 individuals underwent living donor nephrectomy at our center, as well as ascertainment of ESRD status. Of these, 39 developed ESRD (mean age ± standard deviation [SD] at ESRD, 62.4 ± 14.1 years; mean interval between donation and ESRD, 27.1 ± 9.8 years). Donors developing ESRD were more likely to be male, as well as smokers, and younger at donation, and to have donated to a first-degree relative. Of donors with a known cause of ESRD (n = 25), 48% was due to diabetes and/or hypertension; only 2 from a disease that would have affected 1 kidney (cancer). Of those 25 with an ascertainable ESRD cause, 4 shared a similar etiology of ESRD with their recipient. Almost universally, thechange of eGFR over time was stable, until new-onset disease (kidney or systemic). Knowledge of factors contributing to ESRD after living kidney donation can improve donor selection and counseling, as well as long-term postdonation care. © 2018 The American Society of Transplantation and the American Society of Transplant Surgeons.

  16. Agrarian diet and diseases of affluence – Do evolutionary novel dietary lectins cause leptin resistance?

    Jönsson Tommy

    2005-12-01

    Full Text Available Abstract 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.

  17. [A case of liver abscess caused by Fusobacterium nucleatum in a patient with recurrent periodontal diseases].

    Kim, Yong Hwan; Yoon, Hee Jung; Park, Chan Woong; Kim, Jung Ho; Lee, Min Kyung; Kim, Ki Bang; Na, Dong Jib; Kim, Ji Myung

    2011-01-01

    Fusobacteria are anaerobic gram-negative, non-spore forming bacilli found in normal flora of the oral cavity, urogenital tract, and gastrointestinal tract. Fusobacterium nucleatum has been seldom reported as a cause of liver abscess, particularly in immunocompetent hosts. A 55-year-old man with frequent periodontal disease visited our hospital with intermittent fever and headache for 2 months. Abdominal CT scan revealed an 8.2 × 6 cm mass in the right hepatic lobe with central low density. Abscess culture revealed F. nucleatum as the causative organism. Percutaneous abscess drainage and intravenous administration of antibiotics for 4 weeks improved symptoms and decreased the abscess size. We report a rare case of liver abscess due to F. nucleatum in an immunocompetent man with periodontal disease.

  18. Mushroom tumor: a new disease on Flammulina velutipes caused by Ochrobactrum pseudogrignonense.

    Wu, Zhipeng; Peng, Weihong; He, Xiaolan; Wang, Bo; Gan, Bingcheng; Zhang, Xiaoping

    2016-01-01

    Mushroom tumor on Flammulina velutipes has become the main disease during the off-season cultivation of F. velutipes while the causal organism has remained unknown. The present study was aimed at identifying the pathogen confirming its pathogenisity following Koch's Postulates, characterizing it using morphological, physiological, biochemical and molecular features, and studying its current distribution. We determined that mushroom tumor is a new bacterial infection disease caused by Ochrobactrum pseudogrignonense. It produces tumor-like structures on the surface of the substrate, and inhibits the formation of primordia and fruiting of F. velutipes. The molecular studies showed that this new pathogen is closely related to Ochrobactrum based on 16S rRNA sequences. This is the first time that Ochrobactrum has been shown to be a pathogen of a mushroom. © FEMS 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  19. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

    Pitceathly, Robert D S

    2012-09-11

    Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with uncomplicated inherited neuropathy, despite the essential requirement of ATP for axonal function. We identified the mtDNA mutation m.9185T>C in MT-ATP6, encoding the ATP6 subunit of the mitochondrial ATP synthase (OXPHOS complex V), at homoplasmic levels in a family with mitochondrial disease in whom a severe motor axonal neuropathy was a striking feature. This led us to hypothesize that mutations in the 2 mtDNA complex V subunit encoding genes, MT-ATP6 and MT-ATP8, might be an unrecognized cause of isolated axonal CMT and distal hereditary motor neuropathy (dHMN).

  20. Onychomadesis outbreak in Valencia, Spain associated with hand, foot, and mouth disease caused by enteroviruses.

    Davia, Javier López; Bel, Pablo Hernández; Ninet, Violeta Zaragoza; Bracho, María Alma; González-Candelas, Fernando; Salazar, Antonio; Gobernado, Miguel; Bosch, Isabel Febrer

    2011-01-01

    This report evaluates the June 2008 onychomadesis outbreak in Valencia, Spain. The study sample consisted of 221 onychomadesis cases and 77 nonaffected individuals who lived close to those affected. We collected data on dietary variables, hygiene products, and individual pathological histories. Feces and blood specimens were collected from 44 cases and 24 controls to evaluate exposure to infectious agents. Pathological background data revealed a high frequency (61%) of hand, foot, and mouth disease among the onychomadesis cases. Coxsackievirus A10 was the most commonly detected enterovirus in both case and control groups (49%). Other enteroviruses such as coxsackieviruses A5, A6, A16, B1, and B3; echoviruses 3, 4, and 9; and enterovirus 71 were present in low frequencies in the case and control groups (3-9%). The 2008 onychomadesis outbreak in the metropolitan area of Valencia was associated with an outbreak of hand, foot, and mouth disease primarily caused by coxsackievirus A10. © 2010 Wiley Periodicals, Inc.

  1. Increased all-cause mortality with psychotropic medication in Parkinson's disease and controls

    Frandsen, Rune; Baandrup, Lone; Kjellberg, Jakob

    2014-01-01

    AIM: Use of medication and polypharmacy is common as the population ages and its disease burden increases. We evaluated the association of antidepressants, benzodiazepines, antipsychotics and combinations of psychotropic drugs with all-cause mortality in patients with Parkinson's disease (PD...... of psychotropic medication in PD patients and controls. Hazard ratios were as follows for the medication types: selective serotonin reuptake inhibitors or serotonin-noradrenalin reuptake inhibitors, PD HR = 1.19, 95% CI = 1.04-1.36; Control HR = 1.77, 95% CI = 1.64-1.91; benzodiazepines, PD HR = 1.17, 95% CI = 0.......20-1.76; Control HR = 2.00, 95% CI 1.66-2.43; and combinations of these drugs compared with non-medicated PD patients and controls. Discontinuation of medication was associated with decreased mortality in both groups. CONCLUSIONS: The use of psychotropic medication in the elderly is associated with increased...

  2. Occupational heavy lifting and risk of ischemic heart disease and all-cause mortality

    Petersen, Christina Bjørk; Eriksen, Louise; Tolstrup, Janne S

    2012-01-01

    ABSTRACT: BACKGROUND: Occupational heavy lifting is known to impose a high cardiovascular strain, but the risk of ischemic heart disease (IHD) from occupational heavy lifting is unknown. The objective was to investigate the association between occupational heavy lifting and risk of IHD and all...... cardiovascular disease at baseline. Conventional risk factors for the outcomes IHD and all-cause mortality were controlled for in Cox analyses. RESULTS: Among men, heavy lifting was associated with increased risk for IHD (hazard ratio (HR): 1.52, 95 % Confidence interval (95 % CI): 1.15, 2.02), while a decreased...... risk was associated with occupational (HR: 0.50, 95 % CI: 0.37, 0.68) and leisure time (HR: 0.73, 95 % CI: 0.56, 0.95) physical activity. Referencing men with high occupational physical activity and no heavy lifting, men with high occupational physical activity and heavy lifting did not have...

  3. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

    Sznajer, Yves; Coldéa, Cristina; Meire, Françoise; Delpierre, Isabelle; Sekhara, Tayeb; Touraine, Renaud L

    2008-04-15

    Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. SOX10 gene sequencing identified "de novo" splice site mutation (c.698-2A > C). The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient. Copyright 2008 Wiley-Liss, Inc.

  4. Anti-Mur as the most likely cause of mild hemolytic disease of the newborn.

    Bakhtary, Sara; Gikas, Anastasia; Glader, Bertil; Andrews, Jennifer

    2016-05-01

    Although rare in the United States, anti-Mur is relatively common in Southeast Asia and has been reported to have clinical significance in Chinese and Taiwanese populations. The infant was full term and the second child of a Chinese mother and Vietnamese father, presenting with jaundice. He was clinically diagnosed with immune-mediated hemolytic anemia. The direct antiglobulin test indicated that the infant's red blood cells were coated only with anti-IgG. Anti-Mur was identified in the maternal serum and the neonate's plasma. The father was found to be positive for the Mur antigen. The cause of the infant's hemolytic anemia was determined to be most likely anti-Mur. Since anti-Mur is implicated in causing hemolytic disease of the newborn, it is important to recognize this antibody more commonly found in Asian patients in the United States as the Mur+ phenotype has a higher prevalence in this population. © 2016 AABB.

  5. Effect of gamma radiation treatment on some fungi causing storage diseases of banana fruits

    EL-Ashmawi, A.M.M.

    1982-01-01

    Banana is one of the most popular fruits in many tropical and sub-tropical countries. in recent years, the quality of egyptian banana markedly declined. A major factor contributing to this decline is the development of fruit rot, which is the most widely occurring disease either in the field or in storage. Different fungi attack banana fruits causing considerable losses. Most of the fungi responsible for post harvest rots of banana are usually carried from the field, on the surface of the fruit itself or in injured and rotting fruits causing severe rats during storage. These rots make the fruits difficult to handle and undesirable to the consumers. Botryodiplodia theobromae is known to be the most important pathogen responsible for the infection in storage

  6. [Causes of lymphocytic meningitis in people with HIV admitted to the Infectious Disease department of Conakry].

    Traoré, F A; Cissoko, Y; Tounkara, T M; Sako, F B; Mouelle, A D; Kpami, D O; Traoré, M; Doumbouya, M

    2015-01-01

    The advent of HIV infection has significantly changed the distribution of the causes of lymphocytic meningitis. The objective of this study was to identify these causes among persons with HIV hospitalized in the infectious disease department of the CHU of Conakry. This retrospective study examined hospital records of patients with HIV infection admitted for lymphocytic meningitis over a 10-year period. Of the 8649 hospitalizations in the department during the study period, 3167 patients had HIV infection, and 85 of the latter were diagnosed with lymphocytic meningitis. Slightly more than half were male (sex ratio M/F = 1.1). Their mean age was 32 years. Of these 85 patients, 73 were positive for HIV-1 only and 12 for HIV1+2. A CD4 count was performed only in 13/85 patients and averaged 140 cells/mm3. The main causes associated with lymphocytic meningitis were cryptococcosis (58%), toxoplasmosis (5%), and tuberculosis (2%). Streptococcus pneumoniae, Neisseria meningitidis, and Hæmophilus influenzae were also identified in 16% of cases. In 18% of cases no microbe was identified. The overall lethality rate was 68%; it reached 100% for tuberculous meningitis and for the cases without any identified cause and was 75%-76% for the patients with toxoplasmosis and cryptococcosis. The survival rate was 100% for all bacterial causes. A cause for lymphocytic meningitis was identified in more than 81% of the patients in our series, and the most common microbe was Cryptococcus neoformans. A better microbiological technical platform and improved accessibility to treatment would enable us to provide more relevant results and treatment.

  7. [Occupational diseases caused by ionizing radiation in Poland, 1971-2006].

    Wilczyńska, Urszula; Szeszenia-Dabrowska, Neonila

    2008-01-01

    The whole spectrum of disorders of the hematopoietic tissue, eye and skin induced by ionizing radiation covers complex pathologies termed as a postirradiation syndrome, as well as various malignancies. The aim of this work is to present the data on incidence of occupational diseases with ionizing radiation as a causative agent. The work is based on the data compiled from "Occupational Diseases Reporting Forms" for the years 1971-2006 collected in the Central Register of Occupational Diseases. The incidence of certified occupational diseases with ionizing radiation as a causative agent is expressed in absolute numbers and the rate per 100 000 employees. The data comprise information on disease entities, gender, age, exposure duration and the branch of national economy. In total, 599 diseases (0.2% of all occupational diseases) were diagnosed as those induced by ionizong radiation. Annual incidence rates per 100,000 employees fell within the range of 0.0-0.7. Miners formed the major (51.9%) occupational group affected by ionizing radiation. They were followed by health care (34.3%) and construction (6.4%) workers. Cancers made over 50% of pathologies located at 28 sites. These included cancers of lung (59.2%), skin (10.0%) and hematopoietic tissue (8.7%). Almost all (99.35) diseases recorded in the mining industry were cancers. Non-cancer diseases were more frequent in health care workers, among them postradiation cataract occupied the first place. A great deal of reported cancer sites give rise to controversy in terms of the cause-effect association with ionizing radiation exposure and also due to incomplete data on exposure level. Postradiation cancers among health care workers have not been registered over recent years, which means that occupational exposure surveillance carried out for many years proves to be effective. Distant effects of exposure to ionizing radiation, revealed in workers of no longer existing uranium mine, appeared to be a particular problem

  8. Occupational Diseases Caused by Ionizing Radiation in Poland, 1971-2006

    Wilczynska, U.; Szeszenia-Dabrowska, N.

    2008-01-01

    The whole spectrum of disorders of the hematopoietic tissue, eye and skin induced by ionizing radiation covers complex pathologies termed as a postirradiation syndrome, as well as various malignancies. The aim of this work is to present the data on incidence of occupational diseases with ionizing radiation as a causative agent. The work is based on the data compiled from 'Occupational Diseases Reporting Forms' for the years 1971-2006 collected in the Central Register of Occupational Diseases. The incidence of certified occupational diseases with ionizing radiation as a causative agent is expressed in absolute numbers and the rate per 100 000 employees. The data comprise information on disease entities, gender, age, exposure duration and the branch of national economy. In total, 599 diseases (0.2% of all occupational diseases) were diagnosed as those induced by ionizing radiation. Annual incidence rates per 100 000 employees fell within the range of 0.0-0.7. Miners formed the major (51.9%) occupational group affected by ionizing radiation. They were followed by health care (34.3%) and construction (6.4%) workers. Cancers made over 50% of pathologies located at 28 sites. These included cancers of lung (59.2%), skin (10.0%) and hematopoietic tissue (8.7%). Almost all (99.35) diseases recorded in the mining industry were cancers. Non-cancer diseases were more frequent in health care workers, among them postradiation cataract occupied the first place. A great deal of reported cancer sites give rise to controversy in terms of the cause-effect association with ionizing radiation exposure and also due to incomplete data on exposure duration. Postradiation cancers among health care workers have not been registered over recent years, which means that occupational exposure surveillance carried out for many years proves to be effective. Distant effects of exposure to ionizing radiation, revealed in workers of no longer existing uranium mine, appeared to be a particular problem

  9. Network analysis of differential expression for the identification of disease-causing genes.

    Daniela Nitsch

    Full Text Available Genetic studies (in particular linkage and association studies identify chromosomal regions involved in a disease or phenotype of interest, but those regions often contain many candidate genes, only a few of which can be followed-up for biological validation. Recently, computational methods to identify (prioritize the most promising candidates within a region have been proposed, but they are usually not applicable to cases where little is known about the phenotype (no or few confirmed disease genes, fragmentary understanding of the biological cascades involved. We seek to overcome this limitation by replacing knowledge about the biological process by experimental data on differential gene expression between affected and healthy individuals. Considering the problem from the perspective of a gene/protein network, we assess a candidate gene by considering the level of differential expression in its neighborhood under the assumption that strong candidates will tend to be surrounded by differentially expressed neighbors. We define a notion of soft neighborhood where each gene is given a contributing weight, which decreases with the distance from the candidate gene on the protein network. To account for multiple paths between genes, we define the distance using the Laplacian exponential diffusion kernel. We score candidates by aggregating the differential expression of neighbors weighted as a function of distance. Through a randomization procedure, we rank candidates by p-values. We illustrate our approach on four monogenic diseases and successfully prioritize the known disease causing genes.

  10. Recent Trends in Control Methods for Bacterial Wilt Diseases Caused by Ralstonia solanacearum

    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

  11. Hemophagocytic lymphohistiocytosis caused by primary Epstein-Barr virus in patient with Crohn's disease.

    Virdis, Francesco; Tacci, Sara; Messina, Federico; Varcada, Massimo

    2013-11-27

    We present a case of a 19-year-old man with a 6-year history of Crohn's disease (CD), previously treated with 6-mercaptopurine, who was admitted to our department for Epstein-Barr virus (EBV) infection and subsequently developed a hemophagocytic lymphohistiocytosis (HLH). HLH is a rare disease which causes phagocytosis of all bone marrow derived cells. It can be a primary form as a autosomic recessive disease, or a secondary form associated with a variety of infections; EBV is the most common, the one with poorer prognosis. The incidence of lymphoproliferative disorders was increased in patients with inflammatory bowel disease (IBD) treated with thiopurines. Specific EBV-related clinical and virological management should be considered when treating a patient with IBD with immunosuppressive therapy. Moreover EBV infection in immunosuppressed patient can occur with more aggressive forms such as encephalitis and diffuse large B cell lymphoma. Our case confirms what is described in the literature; patients with IBD, particularly patients with CD receiving thiopurine therapy, who present 5 d of fever and cervical lymphadenopathy or previous evidence of lymphopenia should be screened for HLH.

  12. Effect of Selenium Supplementation on Recurrent Hyperthyroidism Caused by Graves' Disease: A Prospective Pilot Study.

    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 (pGraves' disease. Randomized trials with large number of participants are needed to validate the finding above. © Georg Thieme Verlag KG Stuttgart · New York.

  13. A long-lasting pandemic: diseases caused by dust containing silica: Italy within the international context.

    Carnevale, F; Baldasseroni, A

    2005-01-01

    Diseases caused by dust containing silica represent an exemplary case study in the field of work-related diseases and in the history of the discovery of chronic industrial disease and its relationship to industrial society. Both dust and steam are indissolubly linked to the Industrial Revolution which everywhere was expected to replace slaves with masses of proletarians alike lesser gods. The identification of different nosological entities of dust-related diseases, the discovery that the most harmful dust particles in gold mines were invisible, insurance compensation and the development of the silicosis threshold limit value were all subjects of intense political negotiation that accompanied, with the connivance of doctors and scientists, a compromise between the health of workers and the economic health of industry. The preference for damage compensation (insurance system) over risk prevention (industrial hygienic measures) was also asserted and maintained in post-war Italy. Decline and modification of silicosis in Italy proceeded at the same rate as the introduction and subsequent application of more effective preventative legislation, especially with the protest movements of the working class at the end of the 1960s, together with the elimination of entire sectors of industrial activities, first those specialising in extraction and then the metallurgy.

  14. PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.

    Kiefer, Florian W; Winhofer, Yvonne; Iacovazzo, Donato; Korbonits, Márta; Wolfsberger, Stefan; Knosp, Engelbert; Trautinger, Franz; Höftberger, Romana; Krebs, Michael; Luger, Anton; Gessl, Alois

    2017-08-01

    Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma. Loss-of-heterozygosity analysis of the pituitary tumour revealed loss of the wild-type copy of PRKAR1A , suggesting a role of this gene in the pituitary adenoma development. PRKAR1A loss-of-function mutations can rarely lead to ACTH-secreting pituitary adenomas in CNC patients. Pituitary-dependent disease should be considered in the differential diagnosis of Cushing syndrome in CNC patients. © 2017 European Society of Endocrinology.

  15. Changes in insulin and insulin signaling in Alzheimer’s disease: cause or consequence?

    Stanley, Molly; Macauley, Shannon L.

    2016-01-01

    Individuals with type 2 diabetes have an increased risk for developing Alzheimer’s disease (AD), although the causal relationship remains poorly understood. Alterations in insulin signaling (IS) are reported in the AD brain. Moreover, oligomers/fibrils of amyloid-β (Aβ) can lead to neuronal insulin resistance and intranasal insulin is being explored as a potential therapy for AD. Conversely, elevated insulin levels (ins) are found in AD patients and high insulin has been reported to increase Aβ levels and tau phosphorylation, which could exacerbate AD pathology. Herein, we explore whether changes in ins and IS are a cause or consequence of AD. PMID:27432942

  16. Causes of Death Data in the Global Burden of Disease Estimates for Ischemic and Hemorrhagic Stroke

    Truelsen, Thomas; Krarup, Lars-Henrik; Iversen, Helle K

    2015-01-01

    on the International Classification of Diseases and the pathology behind each code by checking multiple causes of death and literature review. RESULTS: Unspecified stroke and primary and secondary hypertension are leading contributing 'GCs' to stroke mortality estimates for hemorrhagic stroke (HS) and ischemic stroke...... (IS). There were marked differences in the fraction of death assigned to IS and HS for unspecified stroke and hypertension between GBD regions and between age groups. CONCLUSIONS: A large proportion of stroke fatalities are derived from the redistribution of 'unspecified stroke' and 'hypertension...

  17. A novel Enterovirus 96 circulating in China causes hand, foot, and mouth disease.

    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

    2017-06-01

    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.

  18. Intensity versus duration of cycling, impact on all-cause and coronary heart disease mortality

    Schnohr, Peter; Marott, Jacob L; Jensen, Jan S

    2012-01-01

    Background: Current recommendations prescribe that every adult should accumulate 30¿minutes or more of moderate physical activity in leisure time, preferably every day of the week. The optimal intensity, duration, and frequency still have to be established. The aim of this study was to examine......: Our findings indicate that the relative intensity, and not the duration of cycling, is of more importance in relation to all-cause and coronary heart disease mortality. Thus our general recommendations to all adults would be that brisk cycling is preferable to slow....

  19. Do musculoskeletal degenerative diseases affect mortality and cause of death after 10 years in Japan?

    Tsuboi, Masaki; Hasegawa, Yukiharu; Matsuyama, Yukihiro; Suzuki, Sadao; Suzuki, Koji; Imagama, Shiro

    2011-03-01

    There are several reports from Europe and the United States on mortality from musculoskeletal degenerative diseases; however, no reports have been published from Japan. This study is the first that has examined whether musculoskeletal degenerative diseases affect life prognosis in Japan. As many as 944 persons who were 60 years of age and older and who underwent one or more musculoskeletal checkups (knee, lower back, and bone mineral density examination) were enrolled. Survival and death after 10 years were examined. For each knee, lower back, and bone mineral density examination, subjects were divided into normal and abnormal groups. For each of the examinations (knee, lower back, or bone mineral density), 10-year mortality was compared between the two groups. Also, causes of death were examined after 10 years. As many as 805 subjects survived and 125 died. For those with and without osteoarthritis of the knee, mortality after 10 years was 17 and 10%, respectively. For those with and without lower back abnormalities, mortality after 10 years was 12 and 14%, respectively. For those with or without low bone mineral density, mortality after 10 years was 17 and 10%, respectively. Multivariate analysis adjusted for age, gender, body mass index, and lifestyle revealed that odds ratio of death after 10 years was 2.32 and 2.33 in the presence of osteoarthritis of the knee and a low bone mineral density, respectively, and thus the risk of death after 10 years was significantly high. With regard to the cause of death, cerebrovascular and cardiovascular diseases were most frequently evident in patients with osteoarthritis of the knee. Musculoskeletal degenerative diseases influence mortality after 10 years.

  20. Xanthomonas euvesicatoria Causes Bacterial Spot Disease on Pepper Plant in Korea

    Min-Seong Kyeon

    2016-10-01

    Full Text Available In 2004, bacterial spot-causing xanthomonads (BSX were reclassified into 4 species—Xanthomonas euvesicatoria, X. vesicatoria, X. perforans, and X. gardneri. Bacterial spot disease on pepper plant in Korea is known to be caused by both X. axonopodis pv. vesicatoria and X. vesicatoria. Here, we reidentified the pathogen causing bacterial spots on pepper plant based on the new classification. Accordingly, 72 pathogenic isolates were obtained from the lesions on pepper plants at 42 different locations. All isolates were negative for pectolytic activity. Five isolates were positive for amylolytic activity. All of the Korean pepper isolates had a 32 kDa-protein unique to X. euvesicatoria and had the same band pattern of the rpoB gene as that of X. euvesicatoria and X. perforans as indicated by PCR-restriction fragment length polymorphism analysis. A phylogenetic tree of 16S rDNA sequences showed that all of the Korean pepper plant isolates fit into the same group as did all the reference strains of X. euvesicatoria and X. perforans. A phylogenetic tree of the nucleotide sequences of 3 housekeeping genes—gapA, gyrB, and lepA showed that all of the Korean pepper plant isolates fit into the same group as did all of the references strains of X. euvesicatoria. Based on the phenotypic and genotypic characteristics, we identified the pathogen as X. euvesicatoria. Neither X. vesicatoria, the known pathogen of pepper bacterial spot, nor X. perforans, the known pathogen of tomato plant, was isolated. Thus, we suggest that the pathogen causing bacterial spot disease of pepper plants in Korea is X. euvesicatoria.

  1. Association of TSH Elevation with All-Cause Mortality in Elderly Patients with Chronic Kidney Disease.

    Mei-Hsing Chuang

    Full Text Available 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

  2. Estimating the global burden of thalassogenic diseases: human infectious diseases caused by wastewater pollution of the marine environment.

    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

  3. Managing scab diseases of potato and radish caused by Streptomyces spp. using Bacillus amyloliquefaciens BAC03 and other biomaterials

    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...

  4. Identification and Chacterization of new strains of Enterobacter spp. causing Mulberry (Morus alba) wilt disease in China

    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. Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015

    Wang, Haidong; Naghavi, Mohsen; Allen, Christine; Barber, R.M.; Bhutta, Zulfiqar; Carter, Austin; Casey, Daniel C.; Charlson, Fiona J.; Chen, Alan Z.; Coates, M.; Geleijnse, J.M.

    2016-01-01

    Background
    Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a comprehensive assessment of all-cause and cause-specific mortality for 249

  6. Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013 : a systematic analysis for the Global Burden of Disease Study 2013

    Naghavi, Mohsen; Wang, Haidong; Lozano, Rafael; Davis, Adrian; Liang, Xiaofeng; Zhou, Maigeng; Vollset, Stein Emil; Ozgoren, Ayse Abbasoglu; Abdalla, Safa; Abd-Allah, Foad; Aziz, Muna I. Abdel; Abera, Semaw Ferede; Aboyans, Victor; Abraham, Biju; Abraham, Jerry P.; Abuabara, Katrina E.; Abubakar, Ibrahim; Abu-Raddad, Laith J.; Abu-Rmeileh, Niveen M. E.; Achoki, Tom; Adelekan, Ademola; Ademi, Zanfi Na; Adofo, Koranteng; Adou, Arsene Kouablan; Adsuar, Jose C.; Aernlov, Johan; Agardh, Emilie Elisabet; Akena, Dickens; Al Khabouri, Mazin J.; Alasfoor, Deena; Albittar, Mohammed; Alegretti, Miguel Angel; Aleman, Alicia V.; Alemu, Zewdie Aderaw; Alfonso-Cristancho, Rafael; Alhabib, Samia; Ali, Mohammed K.; Ali, Raghib; Alla, Francois; Al Lami, Faris; Allebeck, Peter; AlMazroa, Mohammad A.; Salman, Rustam Al-Shahi; Alsharif, Ubai; Alvarez, Elena; Alviz-Guzman, Nelson; Amankwaa, Adansi A.; Amare, Azmeraw T.; Ameli, Omid; Hoek, Hans W.

    2015-01-01

    Background Up-to-date evidence on levels and trends for age-sex-specifi c all-cause and cause-specifi c mortality is essential for the formation of global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013) we estimated yearly deaths for 188 countries

  7. Clinical characteristics of chronic kidney disease of nontraditional causes in Salvadoran farming communities.

    Herrera, Raúl; Orantes, Carlos M; Almaguer, Miguel; Alfonso, Pedro; Bayarre, Héctor D; Leiva, Irma M; Smith, Magaly J; Cubias, Ricardo A; Torres, Carlos G; Almendárez, Walter O; Cubias, Francisco R; Morales, Fabrizio E; Magaña, Salvador; Amaya, Juan C; Perdomo, Edgard; Ventura, Mercedes C; Villatoro, Juan F; Vela, Xavier F; Zelaya, Susana M; Granados, Delmy V; Vela, Eduardo; Orellana, Patricia; Hevia, Reynaldo; Fuentes, E Jackeline; Mañalich, Reinaldo; Bacallao, Raymed; Ugarte, Mario; Arias, María I; Chávez, Jackelin; Flores, Nelson E; Aparicio, Claudia E

    2014-04-01

    Chronic kidney disease is a serious health problem in El Salvador. Since the 1990s, there has been an increase in cases unassociated with traditional risk factors. It is the second leading cause of death in men aged >18 years. In 2009, it was the first cause of in-hospital death for men and the fifth for women. The disease has not been thoroughly studied. Characterize clinical manifestations (including extrarenal) and pathophysiology of chronic kidney disease of nontraditional causes in Salvadoran farming communities. A descriptive clinical study was carried out in 46 participants (36 men, 10 women), identified through chronic kidney disease population screening of 5018 persons. Inclusion criteria were age 18-59 years; chronic kidney disease at stages 2, 3a and 3b, or at 3a and 3b with diabetes or hypertension and without proteinuria; normal fundoscopic exam; no structural abnormalities on renal ultrasound; and HIV-negative. Examinations included social determinants; psychological assessment; clinical exam of organs and systems; hematological and biochemical parameters in blood and urine; urine sediment analysis; markers of renal damage; glomerular and tubular function; and liver, pancreas and lung functions. Renal, prostate and gynecological ultrasound; and Doppler echocardiography and peripheral vascular and renal Doppler ultrasound were performed. Patient distribution by chronic kidney disease stages: 2 (32.6%), 3a (23.9%), 3b (43.5%). Poverty was the leading social determinant observed. Risk factor prevalence: agrochemical exposure (95.7%), agricultural work (78.3%), male sex (78.3%), profuse sweating during work (76.3%), malaria (43.5%), NSAID use (41.3%), hypertension (36.9%), diabetes (4.3%). General symptoms: arthralgia (54.3%), asthenia (52.2%), cramps (45.7%), fainting (30.4). Renal symptoms: nycturia (65.2%), dysuria (39.1%), foamy urine (63%). Markers of renal damage: macroalbuminuria (80.4%), ß2 microglobulin (78.2%), NGAL (26.1%). Renal function

  8. Development of a Vaccine for Bacterial Kidney Disease in Salmon, 1987 Annual Report.

    Kaattari, Stephen

    1988-06-01

    Bacterial kidney disease (BKD) has been and remains a chronic contributory problem limiting the productivity of salmon in the Columbia River Basin. Control of this disease will not come easily, but it would lead to a tremendous increase in the health and numbers of salmon populations. Vaccination of salmon to Renibacterium salmoninarum (KDB) is a potentially successful method of controlling this disease. To date, however, no successful vaccine has been developed for general use. A possible solution to this problem, and thus the goal of this research, is to isolate the antigenic components of KDB and enhance their ability to activate the host defenses. This will be accomplished by the chemical modification of these antigens with potent immunomodulatory substances. These modified antigens will then be tested for their effectiveness in inducing immunity to BKD and thereby preventing the disease. The goal of the project's fourth year was to test the immunogenicity and prophylactic value in coho salmon (Oncorhynchus kisutch) of various--chemical conjugates of Renibacterium salmoninarum cell and major antigens. This was accomplished by assessing the serum antibody response, the cellular immune response (chemiluminescence), and the kinetics of mortality after lethal injections of the bacteria. The studies completed this year have: (1) identified immunization procedures which enhance the induction of high levels of antibody; (2) identified functionally distinct serum antibodies which may possess different abilities to protect salmon against BKD; (3) begun the isolation and characterization of anti-R. salmoninarum antibodies which may correlate with varying degrees of protection; (4) identified chemiluminescence as a potential method for assessing cellular immunity to bacterial kidney disease; and (5) characterized two monoclonal antibodies to R. salmoninarum which will be of benefit in the diagnosis of this disease.

  9. Human pathogen shown to cause disease in the threatened eklhorn coral Acropora palmata.

    Kathryn Patterson Sutherland

    Full Text Available Coral reefs are in severe decline. Infections by the human pathogen Serratia marcescens have contributed to precipitous losses in the common Caribbean elkhorn coral, Acropora palmata, culminating in its listing under the United States Endangered Species Act. During a 2003 outbreak of this coral disease, called acroporid serratiosis (APS, a unique strain of the pathogen, Serratia marcescens strain PDR60, was identified from diseased A. palmata, human wastewater, the non-host coral Siderastrea siderea and the corallivorous snail Coralliophila abbreviata. In order to examine humans as a source and other marine invertebrates as vectors and/or reservoirs of the APS pathogen, challenge experiments were conducted with A. palmata maintained in closed aquaria to determine infectivity of strain PDR60 from reef and wastewater sources. Strain PDR60 from wastewater and diseased A. palmata caused disease signs in elkhorn coral in as little as four and five days, respectively, demonstrating that wastewater is a definitive source of APS and identifying human strain PDR60 as a coral pathogen through fulfillment of Koch's postulates. A. palmata inoculated with strain PDR60 from C. abbreviata showed limited virulence, with one of three inoculated fragments developing APS signs within 13 days. Strain PDR60 from non-host coral S. siderea showed a delayed pathogenic effect, with disease signs developing within an average of 20 days. These results suggest that C. abbreviata and non-host corals may function as reservoirs or vectors of the APS pathogen. Our results provide the first example of a marine "reverse zoonosis" involving the transmission of a human pathogen (S. marcescens to a marine invertebrate (A. palmata. These findings underscore the interaction between public health practices and environmental health indices such as coral reef survival.

  10. Human pathogen shown to cause disease in the threatened eklhorn coral Acropora palmata.

    Sutherland, Kathryn Patterson; Shaban, Sameera; Joyner, Jessica L; Porter, James W; Lipp, Erin K

    2011-01-01

    Coral reefs are in severe decline. Infections by the human pathogen Serratia marcescens have contributed to precipitous losses in the common Caribbean elkhorn coral, Acropora palmata, culminating in its listing under the United States Endangered Species Act. During a 2003 outbreak of this coral disease, called acroporid serratiosis (APS), a unique strain of the pathogen, Serratia marcescens strain PDR60, was identified from diseased A. palmata, human wastewater, the non-host coral Siderastrea siderea and the corallivorous snail Coralliophila abbreviata. In order to examine humans as a source and other marine invertebrates as vectors and/or reservoirs of the APS pathogen, challenge experiments were conducted with A. palmata maintained in closed aquaria to determine infectivity of strain PDR60 from reef and wastewater sources. Strain PDR60 from wastewater and diseased A. palmata caused disease signs in elkhorn coral in as little as four and five days, respectively, demonstrating that wastewater is a definitive source of APS and identifying human strain PDR60 as a coral pathogen through fulfillment of Koch's postulates. A. palmata inoculated with strain PDR60 from C. abbreviata showed limited virulence, with one of three inoculated fragments developing APS signs within 13 days. Strain PDR60 from non-host coral S. siderea showed a delayed pathogenic effect, with disease signs developing within an average of 20 days. These results suggest that C. abbreviata and non-host corals may function as reservoirs or vectors of the APS pathogen. Our results provide the first example of a marine "reverse zoonosis" involving the transmission of a human pathogen (S. marcescens) to a marine invertebrate (A. palmata). These findings underscore the interaction between public health practices and environmental health indices such as coral reef survival.

  11. Clinical Features of Pregnancy-associated Retinal and Choroidal Diseases Causing Acute Visual Disturbance.

    Park, Young Joo; Park, Kyu Hyung; Woo, Se Joon

    2017-08-01

    To report clinical features of patients with retinal and choroidal diseases presenting with acute visual disturbance during pregnancy. In this retrospective case series, patients who developed acute visual loss during pregnancy (including puerperium) and visited a tertiary hospital from July 2007 to June 2015, were recruited by searching electronic medical records. Patients were categorized according to the cause of visual loss. Clinical features and required diagnostic modalities were analyzed in the retinal and choroidal disease group. Acute visual loss occurred in 147 patients; 49 (38.9%) were classified into the retinal and choroidal group. The diagnoses included central serous chorioretinopathy (22.4%), hypertensive retinopathy with or without pre-eclampsia (22.4%), retinal tear with or without retinal detachment (18.4%), diabetic retinopathy progression (10.2%), Vogt-Koyanagi-Harada disease (4.1%), retinal artery occlusion (4.1%), multiple evanescent white dot syndrome (4.1%), and others (14.3%). Visual symptoms first appeared at gestational age 25.9 ± 10.3 weeks. The initial best-corrected visual acuity (BCVA) was 0.27 ± 0.39 logarithm of the minimum angle of resolution (logMAR); the final BCVA after delivery improved to 0.13 ± 0.35 logMAR. Serious visual deterioration (BCVA worth than 20 / 200) developed in two patients. Differential diagnoses were established with characteristic fundus and spectral-domain optical coherence tomography findings in all cases. In pregnant women with acute visual loss, retinal and choroidal diseases are common and could be vision threatening. Physicians should be aware of pregnancy-associated retinal and choroidal diseases and their clinical features. The differential diagnosis can be established with non-invasive techniques. © 2017 The Korean Ophthalmological Society

  12. Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene.

    Ruether, K; van de Pol, D; Jaissle, G; Berger, W; Tornow, R P; Zrenner, E

    1997-03-01

    To investigate the retinal function and morphology of mice carrying a replacement mutation in exon 2 of the Norrie disease gene. Recently, Norrie disease mutant mice have been generated using gene targeting technology. The mutation removes the 56 N-terminal amino acids of the Norrie gene product. Ganzfeld electroretinograms (ERGs) were obtained in five animals hemizygous or homozygous for the mutant gene and in three female animals heterozygous for the mutant gene. As controls, three males carrying the wild-type gene were examined. Electroretinogram testing included rod a- and b-wave V-log I functions, oscillatory potentials, and cone responses. The fundus morphology has been visualized by scanning laser ophthalmoscopy. Rod and cone ERG responses and fundus morphology were not significantly different among female heterozygotes and wild-type mice. In contrast, the hemizygous mice displayed a severe loss of ERG b-wave, leading to a negatively shaped scotopic ERG and a marked reduction of oscillatory potentials. The a-wave was normal at low intensities, and only with brighter flashes was there a moderate amplitude loss. Cone amplitudes were barely recordable in the gene-targeted males. Ophthalmoscopy revealed snowflakelike vitreal changes, retinoschisis, and pigment epithelium irregularities in hemizygotes and homozygotes, but no changes in female heterozygotes. The negatively shaped scotopic ERG in male mice with a Norrie disease gene mutation probably was caused by retinoschisis. Pigment epithelial changes and degenerations of the outer retina are relatively mild. These findings may be a clue to the embryonal retinoschisislike pathogenesis of Norrie disease in humans or it may indicate a different expression of the Norrie disease gene defect in mice compared to that in humans.

  13. Waldmann's disease: a rare cause of protein losing enteropathy in an adult patient

    Cláudio Martins

    Full Text Available Primary intestinal lymphangiectasia or Waldmann's disease is an uncommon cause of protein losing enteropathy with an unknown etiology and is usually diagnosed during childhood. It is characterized by dilation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Differential diagnosis should include erosive and non-erosive gastrointestinal disorders, conditions involving mesenteric lymphatic obstruction and cardiovascular disorders that increase central venous pressure. Since there are no accurate serological or radiological available tests, enteroscopy with histopathological examination based on intestinal biopsy specimens is currently the gold standard diagnostic modality of intestinal lymphangiectasia. We report a rare case of a primary intestinal lymphangiectasia in a 60-year-old Caucasian female who presented with asymptomatic hypoalbuminemia and hypogammaglobulinemia. After the diagnosis of a protein losing enteropathy, the patient underwent an enteroscopy and biopsies were taken, whose histological examination confirmed dilated intestinal lymphatics with broadened villi of the small bowel. Secondary causes of intestinal lymphangiectasia were excluded and the diagnosis of Waldmann's disease was recorded. The patient was put on a high-protein and low-fat diet with medium-chain triglyceride supplementation with improvement.

  14. Clinical application of multifocal visual evoked potentials in children with epilepsy caused by intracranial disease

    Yukawa, Eiichi; Kim, Yeong-Jin; Kawasaki, Kensuke; Yoshii, Toshiaki; Hara, Yoshiaki

    2006-01-01

    We investigated whether visual field defects could be objectively evaluated using multifocal visual evoked potential (m-VEP) in two children with epilepsy caused by intracranial disease in whom it was difficult to measure the visual field. To determine normal waves in m-VEP, recording was performed using a visual evoked response imaging system (VERIS) Junior Science program (Mayo, Aichi, Japan) in 20 healthy children (20 eyes) peak latency and amplitude were used for assessment. In the two children with epilepsy, m-VEPs were recorded, and compared with the results of static perimetry or the lesions observed by Magnetic Resonance Imaging (MRI). In the 20 healthy children, there was no significant difference in the peak latency or amplitude among 4 quadrants by one-way analysis of variance. m-VEP in the children with epilepsy showed abnormal waves, corresponding to the visual field defects in the static perimetry or the lesions observed by MRI. Objective evaluation of visual field defects using m-VEP may be useful in children with epilepsy caused by intracranial disease in whom kinetic/static perimetry as a subjective examination is difficult. (author)

  15. Lahore general hospital protocol for treatment of neovascular glaucoma caused by retinal disease

    Khaqan, H.A.; Haider, S.A.

    2013-01-01

    To evaluate efficacy of LGH (Lahore General Hospital) protocol for treatment of neovascular glaucoma caused by retinal diseases. Material and Methods: This case series was performed on 9 consecutive eyes of nine patients with uncontrolled neovascular glaucoma at Department of Ophthalmology, Unit II, Lahore General Hospital/PGMI, Lahore. All nine patients completed six months follow up. Among them 6 patients were having PDR (proliferative diabetic retinopathy) and 3 patients having CRVO (central retinal vein occlusion). LGH protocol for treatment of neovascular glaucoma was: To give intravitreal injection of avastin and then PRP (Pan Retinal Photocoagulation) or Trabeculectomy with MMC (Mitomycin C), if PRP and intravitreal avastin fails to control the intra ocular-pressure (IOP). Results: Three patients had IOP control after intravitreal injection of avastin and PRP, 5 patients had uncontrolled IOP after intravitreal avastin and two sessions of PRP, so they under went trabeculectomy with MMC. One patient had uncontrolled IOP despite of full treatment protocol. All other 8 patients IOP remained stable for six months. Conclusion: Significant decrease in intraocular pressure was achieved after observing LGH protocol for treatment of NVG (Neovascular Glaucoma) caused by retinal diseases. (author)

  16. Nuclear magnetic resonance characterization of metabolite disorder in orange trees caused by citrus sudden death disease.

    Prestes, Rosilene A; Colnago, Luiz A; Forato, Lucimara A; Carrilho, Emanuel; Bassanezi, Renato B; Wulff, Nelson A

    2009-01-01

    Citrus sudden death (CSD) is a new disease of sweet orange and mandarin trees grafted on Rangpur lime and Citrus volkameriana rootstocks. It was first seen in Brazil in 1999, and has since been detected in more than four million trees. The CSD causal agent is unknown and the current hypothesis involves a virus similar to Citrus tristeza virus or a new virus named Citrus sudden death-associated virus. CSD symptoms include generalized foliar discoloration, defoliation and root death, and, in most cases, it can cause tree death. One of the unique characteristics of CSD disease is the presence of a yellow stain in the rootstock bark near the bud union. This region also undergoes profound anatomical changes. In this study, we analyse the metabolic disorder caused by CSD in the bark of sweet orange grafted on Rangpur lime by nuclear magnetic resonance (NMR) spectroscopy and imaging. The imaging results show the presence of a large amount of non-functional phloem in the rootstock bark of affected plants. The spectroscopic analysis shows a high content of triacylglyceride and sucrose, which may be related to phloem blockage close to the bud union. We also propose that, without knowing the causal CSD agent, the determination of oil content in rootstock bark by low-resolution NMR can be used as a complementary method for CSD diagnosis, screening about 300 samples per hour.

  17. The Nature and Causes of Chronic Obstructive Pulmonary Disease: A Historical Perspective

    C Peter W Warren

    2009-01-01

    Full Text Available 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.

  18. Two parvoviruses that cause different diseases in mink have different transcription patterns: Transcription analysis of mink enteritis virus and Aleutian mink disease parvovirus the same cell line

    Storgaard, T.; Oleksiewicz, M.; Bloom, M.E.

    1997-01-01

    The two parvoviruses of mink cause very different diseases, Mink enteritis virus (MEV) is associated with rapid, high-level viral replication and acute disease, In contrast, infection with Aleutian mink disease parvovirus (ADV) is associated with persistent, low-level viral replication and chronic...

  19. Impact of a hospital-level intervention to reduce heart disease overreporting on leading causes of death.

    Al-Samarrai, Teeb; Madsen, Ann; Zimmerman, Regina; Maduro, Gil; Li, Wenhui; Greene, Carolyn; Begier, Elizabeth

    2013-05-16

    The quality of cause-of-death reporting on death certificates affects the usefulness of vital statistics for public health action. Heart disease deaths are overreported in the United States. We evaluated the impact of an intervention to reduce heart disease overreporting on other leading causes of death. A multicomponent intervention comprising training and communication with hospital staff was implemented during July through December 2009 at 8 New York City hospitals reporting excessive heart disease deaths. We compared crude, age-adjusted, and race/ethnicity-adjusted proportions of leading, underlying causes of death reported during death certification by intervention and nonintervention hospitals during preintervention (January-June 2009) and postintervention (January-June 2010) periods. We also examined trends in leading causes of death for 2000 through 2010. At intervention hospitals, heart disease deaths declined by 54% postintervention; other leading causes of death (ie, malignant neoplasms, influenza and pneumonia, cerebrovascular disease, and chronic lower respiratory diseases) increased by 48% to 232%. Leading causes of death at nonintervention hospitals changed by 6% or less. In the preintervention period, differences in leading causes of death between intervention and nonintervention hospitals persisted after controlling for race/ethnicity and age; in the postintervention period, age accounted for most differences observed between intervention and nonintervention hospitals. Postintervention, malignant neoplasms became the leading cause of premature death (ie, deaths among patients aged 35-74 y) at intervention hospitals. A hospital-level intervention to reduce heart disease overreporting led to substantial changes to other leading causes of death, changing the leading cause of premature death. Heart disease overreporting is likely obscuring the true levels of cause-specific mortality.

  20. ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

    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

    2016-01-01

    Abstract 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

  1. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

    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

  2. Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

    Lorena Suarez-Artiles

    2018-01-01

    Full Text Available Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing. Using predictive bioinformatics tools, we selected thirteen missense mutations and one synonymous mutation based on their potential effects on splicing regulatory elements or splice sites. These mutations were analyzed in a minigene splicing assay. Results of the RNA analysis showed that three presumed missense mutations caused alterations in pre-mRNA splicing. Mutation c.741G>T; p.(Trp247Cys generated splicing silencer sequences and disrupted splicing enhancer motifs that resulted in skipping of exon 9, while mutations c.2581G>A; p.(Ala861Thr and c.2581G>C; p.(Ala861Pro abolished a 5′ splice site leading to skipping of exon 23. Mutation c.741G>T represents the first OCRL exonic variant outside the conserved splice site dinucleotides that results in alteration of pre-mRNA splicing. Our results highlight the importance of evaluating the effects of OCRL exonic mutations at the mRNA level.

  3. Synergistic interaction and mode of action of Citrus hystrix essential oil against bacteria causing periodontal diseases.

    Wongsariya, Karn; Phanthong, Phanida; Bunyapraphatsara, Nuntavan; Srisukh, Vimol; Chomnawang, Mullika Traidej

    2014-03-01

    Citrus hystrix de Candolle (Rutaceae), an edible plant regularly used as a food ingredient, possesses antibacterial activity, but there is no current data on the activity against bacteria causing periodontal diseases. C. hystrix essential oil from leaves and peel were investigated for antibiofilm formation and mode of action against bacteria causing periodontal diseases. In vitro antibacterial and antibiofilm formation activities were determined by broth microdilution and time kill assay. Mode of action of essential oil was observed by SEM and the active component was identified by bioautography and GC/MS. C. hystrix leaves oil exhibited antibacterial activity at the MICs of 1.06 mg/mL for P. gingivalis and S. mutans and 2.12 mg/mL for S. sanguinis. Leaf oil at 4.25 mg/mL showed antibiofilm formation activity with 99% inhibition. The lethal effects on P. gingivalis were observed within 2 and 4 h after treated with 4 × MIC and 2 × MIC, respectively. S. sanguinis and S. mutans were completely killed within 4 and 8 h after exposed to 4 × MIC and 2 × MIC of oil. MICs of tested strains showed 4 times reduction suggesting synergistic interaction of oil and chlorhexidine. Bacterial outer membrane was disrupted after treatment with leaves oil. Additionally, citronellal was identified as the major active compound of C. hystrix oil. C. hystrix leaf oil could be used as a natural active compound or in combination with chlorhexidine in mouthwash preparations to prevent the growth of bacteria associated with periodontal diseases and biofilm formation.

  4. Comparative analyses of Legionella species identifies genetic features of strains causing Legionnaires' disease.

    Gomez-Valero, Laura; Rusniok, Christophe; Rolando, Monica; Neou, Mario; Dervins-Ravault, Delphine; Demirtas, Jasmin; Rouy, Zoe; Moore, Robert J; Chen, Honglei; Petty, Nicola K; Jarraud, Sophie; Etienne, Jerome; Steinert, Michael; Heuner, Klaus; Gribaldo, Simonetta; Médigue, Claudine; Glöckner, Gernot; Hartland, Elizabeth L; Buchrieser, Carmen

    2014-01-01

    The genus Legionella comprises over 60 species. However, L. pneumophila and L. longbeachae alone cause over 95% of Legionnaires’ disease. To identify the genetic bases underlying the different capacities to cause disease we sequenced and compared the genomes of L. micdadei, L. hackeliae and L. fallonii (LLAP10), which are all rarely isolated from humans. We show that these Legionella species possess different virulence capacities in amoeba and macrophages, correlating with their occurrence in humans. Our comparative analysis of 11 Legionella genomes belonging to five species reveals highly heterogeneous genome content with over 60% representing species-specific genes; these comprise a complete prophage in L. micdadei, the first ever identified in a Legionella genome. Mobile elements are abundant in Legionella genomes; many encode type IV secretion systems for conjugative transfer, pointing to their importance for adaptation of the genus. The Dot/Icm secretion system is conserved, although the core set of substrates is small, as only 24 out of over 300 described Dot/Icm effector genes are present in all Legionella species. We also identified new eukaryotic motifs including thaumatin, synaptobrevin or clathrin/coatomer adaptine like domains. Legionella genomes are highly dynamic due to a large mobilome mainly comprising type IV secretion systems, while a minority of core substrates is shared among the diverse species. Eukaryotic like proteins and motifs remain a hallmark of the genus Legionella. Key factors such as proteins involved in oxygen binding, iron storage, host membrane transport and certain Dot/Icm substrates are specific features of disease-related strains.

  5. Neuropsychological Testing and Machine Learning Distinguish Alzheimer’s Disease from Other Causes for Cognitive Impairment

    Helmut Hildebrandt

    2017-04-01

    Full Text Available With promising results in recent treatment trials for Alzheimer’s disease (AD, it becomes increasingly important to distinguish AD at early stages from other causes for cognitive impairment. However, existing diagnostic methods are either invasive (lumbar punctures, PET or inaccurate Magnetic Resonance Imaging (MRI. This study investigates the potential of neuropsychological testing (NPT to specifically identify those patients with possible AD among a sample of 158 patients with Mild Cognitive Impairment (MCI or dementia for various causes. Patients were divided into an early stage and a late stage group according to their Mini Mental State Examination (MMSE score and labeled as AD or non-AD patients based on a post-mortem validated threshold of the ratio between total tau and beta amyloid in the cerebrospinal fluid (CSF; Total tau/Aβ(1–42 ratio, TB ratio. All patients completed the established Consortium to Establish a Registry for Alzheimer’s Disease—Neuropsychological Assessment Battery (CERAD-NAB test battery and two additional newly-developed neuropsychological tests (recollection and verbal comprehension that aimed at carving out specific Alzheimer-typical deficits. Based on these test results, an underlying AD (pathologically increased TB ratio was predicted with a machine learning algorithm. To this end, the algorithm was trained in each case on all patients except the one to predict (leave-one-out validation. In the total group, 82% of the patients could be correctly identified as AD or non-AD. In the early group with small general cognitive impairment, classification accuracy was increased to 89%. NPT thus seems to be capable of discriminating between AD patients and patients with cognitive impairment due to other neurodegenerative or vascular causes with a high accuracy, and may be used for screening in clinical routine and drug studies, especially in the early course of this disease.

  6. Opinions in Denmark on the causes of peptic ulcer disease. A survey among Danish physicians and patients

    Christensen, A H; Gjørup, T; Andersen, I B

    1994-01-01

    stated more causes than did their male colleagues (p stress, were contributory causes of peptic ulcer disease, whereas only around 40% believed that coffee/tea, alcohol, smoking, side effects...... of medicine, and working conditions played a causal role. Around 95% of the physicians indicated that medical drugs and smoking were contributory causes of peptic ulcer disease, and around 80% that alcohol and psychologic factors were so. Only 30-40% of the physicians believed that coffee/tea, food habits......, infection, and working conditions could play a causal role in ulcer disease. It is concluded that the opinion on causal agents in peptic ulcer disease differ considerably among both patients and physicians. Opinions on causes of diseases may influence the way we treat and advise our patients, and attempts...

  7. IS RHEUMATIC HEART DISEASE STILL THE MOST COMMON CAUSE OF ATRIAL FIBRILLATION IN INDIA?

    Lokanath S

    2017-12-01

    Full Text Available BACKGROUND The past decade has witnessed an extraordinary growth in the knowledge regarding atrial fibrillation. It is a heterogeneous rhythm that appears with several conditions and crosses the path of almost all clinicians. It is the most common sustained cardiac arrhythmia and the third leading cause of death due to cardiovascular diseases. The incidence of atrial fibrillation approximately doubles with each decade of adult life and ranges from 2 or 3 new cases per 1000 population per year between the ages of 55 and 64 years to 35 new cases per 1000 population per year between the ages of 85 and 94 years. Although, the vast majority of patients with atrial fibrillation are relatively asymptomatic, patients can have profoundly limiting symptoms. The initial presentation of atrial fibrillation maybe an embolic complication or exacerbation of heart failure, but most patients complain of palpitations, chest pain, dyspnoea, fatigue, lightheadedness or syncope. For patients with symptomatic atrial fibrillation lasting many weeks, initial therapy maybe anticoagulation and rate control while the long-term goal is to restore sinus rhythm. When cardioversion is contemplated and the duration of atrial fibrillation is unknown or exceeds 48 hours, patients who do not require long-term anticoagulation may benefit from short-term anticoagulation. If rate control offers inadequate symptomatic relief, restoration of sinus rhythm becomes a clear long-term goal. Early cardioversion may be necessary, if atrial fibrillation causes hypotension or worsening heart failure. Experimental studies have explored the mechanisms of the onset and maintenance of the arrhythmia; drugs have been tailored to specific cardiac ion channels; non-pharmacologic therapies have been introduced that are designed to control or prevent atrial fibrillation; and data have emerged that demonstrate a genetic predisposition in some patients. MATERIALS AND METHODS It is a prospective

  8. Cacao Phylloplane: The First Battlefield against Moniliophthora perniciosa, Which Causes Witches' Broom Disease.

    Almeida, D S M; Gramacho, K P; Cardoso, T H S; Micheli, F; Alvim, F C; Pirovani, C P

    2017-07-01

    The phylloplane is the first contact surface between Theobroma cacao and the fungus Moniliophthora perniciosa, which causes witches' broom disease (WBD). We evaluated the index of short glandular trichomes (SGT) in the cacao phylloplane and the effect of irrigation on the disease index of cacao genotypes with or without resistance to WBD, and identified proteins present in the phylloplane. The resistant genotype CCN51 and susceptible Catongo presented a mean index of 1,600 and 700 SGT cm -2 , respectively. The disease index in plants under drip irrigation was reduced by approximately 30% compared with plants under sprinkler irrigation prior to inoculation. Leaf water wash (LWW) of the cacao inhibited the germination of spores by up to 98%. Proteins from the LWW of CCN51 were analyzed by two-dimensional sodium dodecyl sulfate polyacrylamide gel electrophoresis followed by tandem mass spectrometry. The gel showed 71 spots and identified a total of 42 proteins (28 from the plant and 14 from bacteria). Proteins related to defense and synthesis of defense metabolites and involved in nucleic acid metabolism were identified. The results support the hypothesis that the proteins and water-soluble compounds secreted to the cacao phylloplane participate in the defense against pathogens. They also suggest that SGT can contribute to the resistance of cacao.

  9. Snake fungal disease caused by Ophidiomyces ophiodiicola in a free-ranging mud snake (Farancia abacura).

    Last, Lisa A; Fenton, Heather; Gonyor-McGuire, Jessica; Moore, Matthew; Yabsley, Michael J

    2016-11-01

    Snake fungal disease is an emerging infectious disease caused by the fungus Ophidiomyces ophiodiicola leading to severe dermatitis and facial disfiguration in numerous free-ranging and captive snakes. A free-ranging mud snake (Farancia abacura) from Bulloch County, Georgia, was presented for autopsy because of facial swelling and emaciation. Extensive ulceration of the skin, which was especially severe on the head, and retained shed were noted on external examination. Microscopic examination revealed severe heterophilic dermatitis with intralesional fungal hyphae and arthroconidia consistent with O. ophiodiicola A skin sample incubated on Sabouraud dextrose agar yielded a white-to-tan powdery fungal culture that was confirmed to be O. ophiodiicola by polymerase chain reaction and sequence analysis. Heavy infestation with adult tapeworms (Ophiotaenia faranciae) was present within the intestine. Various bacterial and fungal species, interpreted to either be secondary invaders or postmortem contaminants, were associated with oral lesions. Although the role of these other organisms in the overall health of this individual is not known, factors such as concurrent infections or immunosuppression should be considered in order to better understand the overall manifestation of snake fungal disease, which remains poorly characterized in its host range and geographic distribution. © 2016 The Author(s).

  10. Pneumococcal serotypes and serogroups causing invasive disease in Pakistan, 2005-2013.

    Sadia Shakoor

    Full Text Available While pneumococcal conjugate vaccines have been implemented in most countries worldwide, use in Asia has lagged in part because of a lack of data on the amount of disease that is vaccine preventable in the region. We describe pneumococcal serotypes elicited from 111 episodes of invasive pneumococcal disease (IPD from 2005 to 2013 among children and adults in Pakistan. Seventy-three percent (n = 81 of 111 IPD episodes were cases of meningitis (n = 76 in children 0-15 years and n = 5 among adults. Serotypes were determined by target amplification of DNA extracted from pneumococcal isolates (n = 52 or CSF specimens (n = 59. Serogroup 18 was the most common serogroup causing meningitis in children <5 years, accounting for 21% of cases (n = 13. The 10-valent pneumococcal conjugate vaccine (PCV 10 or PCV10- related serotypes were found in 61% (n = 47 of childhood (age 0-15 years meningitis episodes. PCV-13 increased this coverage to 63% (one additional serotype 19A; n = 48. Our data indicate that use of PCVs would prevent a large proportion of serious pneumococcal disease.

  11. Arthropod borne disease: the leading cause of fever in pregnancy on the Thai-Burmese border.

    Rose McGready

    2010-11-01

    Full Text Available Fever in pregnancy is dangerous for both mother and foetus. In the 1980's malaria was the leading cause of death in pregnant women in refugee camps on the Thai-Burmese border. Artemisinin combination therapy has significantly reduced the incidence of malaria in the population. The remaining causes of fever in pregnancy are not well documented.Pregnant women attending antenatal care, where weekly screening for malaria is routine, were invited to have a comprehensive clinical and laboratory screen if they had fever. Women were admitted to hospital, treated and followed up weekly until delivery. A convalescent serum was collected on day 21. Delivery outcomes were recorded.Febrile episodes (n = 438 occurred in 5.0% (409/8,117 of pregnant women attending antenatal clinics from 7-Jan-2004 to 17-May-2006. The main cause was malaria in 55.5% (227/409. A cohort of 203 (49.6% of 409 women had detailed fever investigations and follow up. Arthropod-borne (malaria, rickettsial infections, and dengue and zoonotic disease (leptospirosis accounted for nearly half of all febrile illnesses, 47.3% (96/203. Coinfection was observed in 3.9% (8/203 of women, mostly malaria and rickettsia. Pyelonephritis, 19.7% (40/203, was also a common cause of fever. Once malaria, pyelonephritis and acute respiratory illness are excluded by microscopy and/or clinical findings, one-third of the remaining febrile infections will be caused by rickettsia or leptospirosis. Scrub and murine typhus were associated with poor pregnancy outcomes including stillbirth and low birth weight. One woman died (no positive laboratory tests.Malaria remains the leading cause of fever in pregnancy on the Thai-Burmese border. Scrub and murine typhus were also important causes of fever associated with poor pregnancy outcomes. Febrile pregnant women on the Thai-Burmese border who do not have malaria, pyelonephritis or respiratory tract infection should be treated with azithromycin, effective for typhus

  12. Dysphagia Causes Symptom Fluctuations after Oral L-DOPA Treatment in a Patient with Parkinson Disease.

    Sato, Hiromasa; Yamamoto, Toshiyuki; Sato, Masako; Furusawa, Yoshihiko; Murata, Miho

    2018-01-01

    The causes of "delayed-on" and "no-on" phenomena in Parkinson disease (PD) are thought to have some impact on the progress of L-DOPA from the time of ingestion until it reaches the brain and is converted to dopamine. Dysphagia can cause fluctuating symptom expression in L-DOPA therapy for PD. A 69-year-old man with PD presented with "delayed-on" and "no-on" phenomena. The patient developed a gait disorder at age 60 years, and he began coughing on his food during breakfast at age 64 years. Even though he was independent in daily life, he could not eat because of dysphagia in an "off" state. Videofluoroscopic examination of swallowing in an "off" state revealed bradykinesia of the tongue and the retention of tablets in the epiglottic vallecula. We trained him to keep his tongue in strong contact with the upper incisors before swallowing. After rehabilitation of dysphagia, the frequency of "delayed-on" and "no-on" phenomena decreased, and his peak L-DOPA plasma concentration was elevated. Additionally, transdermal rotigotine (RTG) was initiated at a maintenance dose of 9.0 mg. The patient reported improvement in swallowing, and the frequency of "no-on" phenomena decreased. In PD patients, the "no-on" phenomenon can be caused by posterior contractile dysfunction of the tongue, and it can be improved with training of the tongue and transdermal RTG administration.

  13. Differential Activation of Human Keratinocytes by Leishmania Species Causing Localized or Disseminated Disease.

    Scorza, Breanna M; Wacker, Mark A; Messingham, Kelly; Kim, Peter; Klingelhutz, Aloysius; Fairley, Janet; Wilson, Mary E

    2017-10-01

    All Leishmania species parasites are introduced into mammalian skin through a sand fly bite, but different species cause distinct clinical outcomes. Mouse studies suggest that early responses are critical determinants of subsequent adaptive immunity in leishmaniasis, yet few studies address the role of keratinocytes, the most abundant cell in the epidermis. We hypothesized that Leishmania infection causes keratinocytes to produce immunomodulatory factors that influence the outcome of infection. Incubation of primary or immortalized human keratinocytes with Leishmania infantum or Leishmania major, which cause visceral or cutaneous leishmaniasis, respectively, elicited dramatically different responses. Keratinocytes incubated with L. infantum significantly increased expression of proinflammatory genes for IL-6, IL-8, tumor necrosis factor, and IL-1B, whereas keratinocytes exposed to several L. major isolates did not. Furthermore, keratinocyte-monocyte co-incubation studies across a 4 µM semipermeable membrane suggested that L. infantum-exposed keratinocytes release soluble factors that enhance monocyte control of intracellular L. infantum replication (P Leishmania species that may affect the course of disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Computed tomography findings of hepatic veno-occlusive disease caused by Sedum aizoon with histopathological correlation

    Shao, H.; Chen, H. Z., E-mail: chenhz@enzemed.com; Zhu, J. S. [Department of Infectious Diseases, Taizhou Hospital Affiliated to Wenzhou Medical College, Linhai (China); Ruan, B. [State Key Laboratory for Diagnosis and Treatment of Infectious Disease, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (China); Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Hangzhou (China); Zhang, Z. Q. [Department of Infectious Disease, Xianju Hospital of Traditional Chinese Medicine, Xianju (China); Lin, X.; Gan, M. F. [Department of Infectious Diseases, Taizhou Hospital Affiliated to Wenzhou Medical College, Linhai (China)

    2015-11-23

    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.

  15. Hyperthyroidism in cats: what's causing this epidemic of thyroid disease and can we prevent it?

    Peterson, Mark

    2012-11-01

    Since first being reported in the late 1970s, there has been a dramatic increase in the prevalence of hyperthyroidism in cats. It is now recognized worldwide as the most common feline endocrine disorder. Hyperthyroidism is an important cause of morbidity in cats older than 10 years of age. It is estimated that over 10% of all senior cats will develop the disorder. Despite its frequency, the underlying cause(s) of this common disease is/are not known, and no one has suggested a means to prevent the disorder. Because of the multiple risk factors that have been described for feline hyperthyroidism, it is likely that more than one factor is involved in its pathogenesis. Continuous, lifelong exposure to environmental thyroid disruptor chemicals or goitrogens in food or water, acting together in an additive or synergistic manner, may first lead to euthyroid goiter and then to autonomous adenomatous hyperplasia, thyroid adenoma and hyperthyroidism. This review draws on published research studies to summarize the available evidence about the risk factors for feline hyperthyroidism. Based on the known goitrogens that may be present in the cat's food, drinking water or environment, it proposes measures that cat owners can implement that might prevent, or reduce the prevalence of, thyroid tumors and hyperthyroidism in their cats.

  16. Descriptive epidemiology of chronic liver disease in northeastern Italy: an analysis of multiple causes of death.

    Fedeli, Ugo; Schievano, Elena; Lisiero, Manola; Avossa, Francesco; Mastrangelo, Giuseppe; Saugo, Mario

    2013-10-10

    The analysis of multiple causes of death data has been applied in the United States to examine the population burden of chronic liver disease (CLD) and to assess time trends of alcohol-related and hepatitis C virus (HCV)-related CLD mortality. The aim of this study was to assess the mortality for CLD by etiology in the Veneto Region (northeastern Italy). Using the 2008-2010 regional archive of mortality, all causes registered on death certificates were extracted and different descriptive epidemiological measures were computed for HCV-related, alcohol-related, and overall CLD-related mortality. The crude mortality rate of all CLD was close to 40 per 100,000 residents. In middle ages (35 to 74 years) CLD was mentioned in about 10% and 6% of all deaths in males and females, respectively. Etiology was unspecified in about half of CLD deaths. In females and males, respectively, HCV was mentioned in 44% and 21% and alcohol in 11% and 26% of overall CLD deaths. A bimodal distribution with age was observed for HCV-related proportional mortality among females, reflecting the available seroprevalence data. Multiple causes of death analyses can provide useful insights into the burden of CLD mortality according to etiology among different population subgroups.

  17. Ascertainment bias causes false signal of anticipation in genetic prion disease.

    Minikel, Eric Vallabh; Zerr, Inga; Collins, Steven J; Ponto, Claudia; Boyd, Alison; Klug, Genevieve; Karch, André; Kenny, Joanna; Collinge, John; Takada, Leonel T; Forner, Sven; Fong, Jamie C; Mead, Simon; Geschwind, Michael D

    2014-10-02

    Anticipation is the phenomenon whereby age of onset in genetic disease decreases in successive generations. Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G > A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein. If confirmed, this finding would carry clear implications for genetic counseling. We analyzed pedigrees with this mutation from four prion centers worldwide (n = 217 individuals with the mutation) to analyze age of onset and death in affected and censored individuals. We show through simulation that selective ascertainment of individuals whose onset falls within the historical window since the mutation's 1989 discovery is sufficient to create robust false signals both of anticipation and of heritability of age of onset. In our data set, the number of years of anticipation observed depends upon how strictly the data are limited by the ascertainment window. Among individuals whose disease was directly observed at a study center, a 28-year difference between parent and child age of onset is observed (p = 0.002), but including individuals ascertained retrospectively through family history reduces this figure to 7 years (p = 0.005). Applying survival analysis to the most thoroughly ascertained subset of data eliminates the signal of anticipation. Moreover, even non-CJD deaths exhibit 16 years anticipation (p = 0.002), indicating that ascertainment bias can entirely explain observed anticipation. We suggest that reports of anticipation in genetic prion disease are driven entirely by ascertainment bias. Guidelines for future studies claiming statistical evidence for anticipation are suggested. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  18. Is there a relationship between periodontal disease and causes of death? A cross sectional study.

    Natto, Zuhair S; Aladmawy, Majdi; Alasqah, Mohammed; Papas, Athena

    2015-01-01

    The aim of this study was to evaluate whether there is any correlation between periodontal disease and mortality contributing factors, such as cardiovascular disease and diabetes mellitus in the elderly population. A dental evaluation was performed by a single examiner at Tufts University dental clinics for 284 patients. Periodontal assessments were performed by probing with a manual UNC-15 periodontal probe to measure pocket depth and clinical attachment level (CAL) at 6 sites. Causes of death abstracted from death certificate. Statistical analysis involved ANOVA, chi-square and multivariate logistic regression analysis. The demographics of the population sample indicated that, most were females (except for diabetes mellitus), white, married, completed 13 years of education and were 83 years old on average. CAL (continuous or dichotomous) and marital status attained statistical significance (p<0.05) in contingency table analysis (Chi-square for independence). Individuals with increased CAL were 2.16 times more likely (OR=2.16, 95% CI=1.47-3.17) to die due to CVD and this effect persisted even after control for age, marital status, gender, race, years of education (OR=2.03, 95% CI=1.35-3.03). CAL (continuous or dichotomous) was much higher among those who died due to diabetes mellitus or out of state of Massachusetts. However, these results were not statistically significant. The same pattern was observed with pocket depth (continuous or dichotomous), but these results were not statistically significant either. CAL seems to be more sensitive to chronic diseases than pocket depth. Among those conditions, cardiovascular disease has the strongest effect.

  19. Intestinal Microbiota and Celiac Disease: Cause, Consequence or Co-Evolution?

    María Carmen Cenit

    2015-08-01

    Full Text Available 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.

  20. Influenza A (H10N7 Virus Causes Respiratory Tract Disease in Harbor Seals and Ferrets.

    Judith M A van den Brand

    Full Text Available 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

  1. Limitations and consequences caused by work-related diseases in the worker’s lives

    Bruna Caroline Rodrigues

    2013-05-01

    Full Text Available This study aimed to investigate the impacts of work-related diseases in the worker’s lives, as well as analyze the contributions of studies to the nursing science, especially in the area of occupational health nursing. It is an integrative review with the following guiding question: What are the limitations and consequences caused by cumulative trauma disorders (CTD in the worker’s lives reported in the nursing scientific production during the last five years (2006 to 2010. The descriptors used were: Cumulative Trauma Disorders and Occupational Health. We selected 14 articles and these were grouped according to common purposes, main limitations and consequences of CTD, and relevant information to contributions of studies in the area of Occupational Health Nursing. We concluded that the scientific production on this subject brings few effective contributions, and that further studies are needed to subsidize care strategies aimed at promoting health and quality of life of these workers.

  2. Staphylococcus cohnii as a cause of multiple brain abscesses in Weber-Christian disease.

    Yamashita, Satoshi; Yonemura, Kiminobu; Sugimoto, Ryoko; Tokunaga, Makoto; Uchino, Makoto

    2005-11-15

    We report a patient with multiple brain abscesses due to Staphylococcus cohnii. While these brain abscesses markedly responded to the antibiotics, this patient was subsequently suffered from subcutaneous inflammatory nodules in the adipose tissue, which diagnosed him as having Weber-Christian disease (WCD). This is the first report that subcutaneous inflammatory nodules in the adipose tissue, which lead the diagnosis of WCD, followed multiple brain abscesses. To our knowledge, S. cohnii has not yet been reported to cause multiple brain abscesses in humans. Although the etiology of WCD is unknown, an immune mechanism has been implicated in the pathogenesis. Therefore, we should notice that patients with WCD could be immunocompromised hosts with a higher risk to suffer from severe opportunistic infections.

  3. Review of epidemiology, clinical presentation, diagnosis, and treatment of common primary psychiatric causes of cutaneous disease.

    Krooks, J A; Weatherall, A G; Holland, P J

    2018-06-01

    Approximately half of all patients presenting to dermatologists exhibit signs and symptoms of psychiatric conditions that are either primary or secondary to cutaneous disease. Because patients typically resist psychiatric consult, dermatologists often are on the front line in evaluating and treating these patients. Accordingly, distinguishing the specific underlying or resulting psychiatric condition is essential for effective treatment. The etiology, epidemiology, clinical presentation, diagnosis, and first-line treatment of specific primary psychiatric causes of dermatologic conditions, including delusional infestation, Morgellons syndrome, olfactory reference syndrome, body dysmorphic disorder, excoriation disorder, trichotillomania, and dermatitis artefacta are discussed here, followed by a discussion of the recommended treatment approach with an overview of the different first-line therapies discussed in this review, specifically cognitive behavioral therapy, atypical antipsychotics, selective serotonin reuptake inhibitors, and tricyclic antidepressants. Included is a guide for dermatologists to use while prescribing these medications.

  4. Cyclical Patterns of Hand, Foot and Mouth Disease Caused by Enterovirus A71 in Malaysia

    NikNadia, NMN; Sam, I-Ching; Rampal, Sanjay; WanNorAmalina, WMZ; NurAtifah, Ghazali; Verasahib, Khebir; Ong, Chia Ching; MohdAdib, MohdAidinniza; Chan, Yoke Fun

    2016-01-01

    Enterovirus A71 (EV-A71) is an important emerging pathogen causing large epidemics of hand, foot and mouth disease (HFMD) in children. In Malaysia, since the first EV-A71 epidemic in 1997, recurrent cyclical epidemics have occurred every 2–3 years for reasons that remain unclear. We hypothesize that this cyclical pattern is due to changes in population immunity in children (measured as seroprevalence). Neutralizing antibody titers against EV-A71 were measured in 2,141 residual serum samples collected from children ≤12 years old between 1995 and 2012 to determine the seroprevalence of EV-A71. Reported national HFMD incidence was highest in children Malaysia is mainly due to the fall of population immunity accompanying the accumulation of susceptible children between epidemics. This study will impact the future planning, timing and target populations for vaccine programs. PMID:27010319

  5. Myeloproliferative Disease: An Unusual Cause of Raynaud’s Phenomenon and Digital Ischaemia

    Celia Beynon

    2016-01-01

    Full Text Available 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.

  6. Cause, care, cure: research priorities for Alzheimer's disease and related dementias.

    Stolee, Paul; Hillier, Loretta M; Cook, Sheila; Rockwood, Kenneth

    2011-12-01

    Part of Ontario's strategy on Alzheimer's disease and related dementias (ADRD) was to develop research priorities and recommend strategies for building research capacity. The process to achieve these objectives included an environmental scan, key informant interviews, surveys, and a consensus workshop; this process involved over 100 researchers, clinicians, persons with early dementia, and family caregivers. This article describes the process undertaken, key issues identified, and recommendations for research priorities and for building research capacity; and provides a strategic direction for dementia research in Ontario that is relevant for other jurisdictions. ADRD research in all aspects is required to advance knowledge of ADRD cause, care, and cure; gaps currently exist in understanding effective approaches to care and knowledge transfer. Capacity for high-calibre research hinges on maintaining attractive career paths for researchers, solid infrastructures, and strong partnerships. For research to inform policy and practice, better mechanisms are needed for knowledge exchange.

  7. Girl with idiopathic childhood hypercalcemia reveals new disease-causing CYP24A1 mutation

    Madsen, Jens Otto Broby; Sauer, Sabrina; Beck, Bodo

    2018-01-01

    of a 21 months old girl initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia, borderline high vitamin-D levels, and renal ultrasound revealed medullary nephrocalcinosis. An abnormality within the vitamin-D metabolism was suspected......CONTEXT: Idiopathic Infantile Hypercalcemia (IHH) was associated with vitamin-D supplementation in the 1950's. 50 years later mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. CASE DESCRIPTION: We hereby report a case...... and genetic testing was performed. This revealed the patient to be compound heterozygous for a common (p.E143del) and a novel (likely) disease-causing mutation (p.H83D) in the CYP24A1 gene. The hypercalcemia normalized after calcium depleted diet and discontinuation of vitamin-D supplementation. CONCLUSIONS...

  8. IGF1 as predictor of all cause mortality and cardiovascular disease in an elderly population

    Andreassen, Mikkel; Raymond, Ilan; Kistorp, Caroline

    2009-01-01

    BACKGROUND: IGF1 is believed to influence ageing and development of cardiovascular disease (CVD) through complex mechanisms. Reduced IGF1 levels might be causally associated with conditions accompanying ageing including development of CVD. However, in animal models reduced GH-IGF1 signalling...... increases lifespan. Reduced IGF1 activity might also be associated with longevity in humans. OBJECTIVE: The objective was to investigate if plasma IGF1 levels were associated with all cause mortality, and the development of chronic heart failure (CHF) and a major CV event. PATIENTS AND DESIGN: A population...... systolic function and without prevalent CVD. Outcomes were ascertained after 5 years using hospital discharge diagnoses. RESULTS: Adjustment for risk factors IGF1 values in the fourth quartile versus values below the fourth quartile was associated with increased mortality (n=103), hazard ratio (HR) 1...

  9. Irradiation damage to the gonads caused by radiotherapy of benign diseases. Pt. 2

    Hassenstein, E.; Nuesslin, F.

    1976-01-01

    The irradiation damage to the gonads caused by the radiotherapy of parotiditis and mastitis and of cheloids was determined partially under different irradiation methods. The measurements were carried out with LiF dosimeters in the Alderson phantom with a tube tension of 250 kV for the inflammatory diseases and 55 kV for the cheloids. The gonad dose measured at the surface was within the range of hundreths of permille for the parotiditis, for the mastitis it was between tenths of permille and 2 0 / 00 depending on the therapy method. The gonad dose of the cheloid irradiations showed a clear relation to the distance between radiation source and gonads. The importance of radiation protection is emphasized. (orig.) [de

  10. New Rust Disease of Korean Willow (Salix koreensis) Caused by Melampsora yezoensis, Unrecorded Pathogen in Korea.

    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.

  11. Activation of cyclic GMP-AMP synthase by self-DNA causes autoimmune diseases.

    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.

  12. Disorders in melanopsin effect of pupil constriction as a risk factor causing eye diseases

    V.A. Kaptsov

    2017-03-01

    Full Text Available Risks of eye damage and eyesight deterioration to a great extent depend on how efficient a biomechanical eye system is under energy-saving lighting conditions. The system's efficiency is determined by its adequacy in managing pupils and ciliary muscle. We analyzed mathematical models describing changes in pupil's diameter which were determined by light-technical parameters of illumination environment (luminance level and brightness. We highlighted the importance of ganglionic cells and the role they play in managing pupil's diameter (miosis when they are exposed to blue light within 480 nm spectrum. Basing on the assessment of a pupil's constriction under exposure to various light stimuli (blue, red, and green ones we worked out a melanopsin effect concept of a pupil's retention at miosis and showed that it could be a diagnostic sign of some diseases (age-related direct retinopathy, pancreatic diabetes under exposure to a blue light impulse with a certain wave length. Under exposure to blue light within 480 nm spectrum ganglionic cells form a managing signal for a sphincter muscle of a pupil and ciliary muscle which provides accommodation (as per Helmholtz and regulates aqueous humor flow in ciliary channel. All modern energy-saving light sources have a low energy level at wave length equal to 480 nm due to gap in their spectrum in comparison with sunlight spectrum with the same light temperature and luminance level. Inadequate management of pupil's diameter under artificial lighting conditions leads to melanopsin effect disorders and causes disharmony in managing aqueous humor outflow. All the above-stated factors under long-term visual load cause eye diseases risks in modern illumination environment. We detected that contemporary mathematic models describing pupil's diameter fluctuations needed to be refined allowing for new knowledge on functional peculiarities of retina cells and energy-saving light sources spectrum.

  13. Characterization of a novel Canine distemper virus causing disease in wildlife.

    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. © 2016 The Author(s).

  14. Serotype distribution of Streptococcus pneumoniae causing invasive disease in the Republic of Ireland.

    Vickers, I

    2011-05-01

    The 7-valent pneumococcal conjugate vaccine (PCV7) was included in the routine infant immunization schedule in Ireland in September 2008. We determined the serotype of 977 S. pneumoniae isolates causing invasive disease between 2000-2002 and 2007-2008, assessed for the presence of the recently described serotype 6C and determined the susceptibility of isolates during 2007-2008 to penicillin and cefotaxime. Serotype 14 was the most common serotype during both periods and 7·7% of isolates previously typed as serotype 6A were serotype 6C. During 2000-2002 and 2007-2008, PCV7 could potentially have prevented 85% and 74% of invasive pneumococcal disease in the target population (i.e. children aged <2 years), respectively. The level of penicillin non-susceptibility was 17% in 2007-2008. Ongoing surveillance of serotypes is required to determine the impact of PCV7 in the Irish population and to assess the potential of new vaccines with expanded valency.

  15. Coxiella burnetii as a possible cause of autoimmune liver disease: a case report

    Kaech Chloe

    2009-08-01

    Full Text Available Abstract Introduction Q fever is a zoonotic infection that may cause severe hepatitis. Q-fever hepatitis has not yet been associated with autoimmune hepatitis and/or primary biliary cirrhosis. Case presentation We describe a 39-year-old man of Sri Lankan origin with chronic Q-fever hepatitis who developed autoantibodies compatible with autoimmune hepatitis/primary biliary cirrhosis overlap syndrome. Ursodeoxycholic acid in addition to antibiotic therapy markedly improved hepatic enzyme levels suggesting that autoimmunity, potentially triggered by the underlying infection, was involved in the pathogenesis of liver damage. Conclusion We suggest that Coxiella burnetii might trigger autoimmune liver disease. Patients with Q-fever hepatitis who respond poorly to antibiotics should be investigated for serological evidence of autoimmune hepatitis, primary biliary cirrhosis or overlap syndrome, as these patients could benefit from adjunctive therapy with ursodeoxycholic acid. Conversely, C. burnetii serology might be necessary in patients with autoimmune liver disease in order to exclude underlying Coxiella infection.

  16. Colonization of fish skin is vital for Vibrio anguillarum to cause disease.

    Weber, Barbara; Chen, Chang; Milton, Debra L

    2010-02-01

    Vibrio anguillarum causes a fatal haemorrhagic septicaemia in marine fish. During initial stages of infection, host surfaces are colonized; however, few virulence factors required for colonization of the host are identified. In this study, in vivo bioluminescent imaging was used to analyse directly the colonization of the whole rainbow trout animal by V. anguillarum. The wild type rapidly colonized both the skin and the intestines by 24 h; however, the bacterial numbers on the skin were significantly higher than in the intestines indicating that skin colonization may be important for disease to occur. Mutants defective for the anguibactin iron uptake system, exopolysaccharide transport, or Hfq, an RNA chaperone, were attenuated for virulence, did not colonize the skin, and penetrated skin mucus less efficiently than the wild type. These mutants, however, did colonize the intestines and were as resistant to 2% bile salts as is the wild type. Moreover, exopolysaccharide mutants were significantly more sensitive to lysozyme and antimicrobial peptides, while the Hfq and anguibactin mutants were sensitive to lysozyme compared with the wild type. Vibrio anguillarum encodes several mechanisms to protect against antimicrobial components of skin mucus enabling an amazingly abundant growth on the skin enhancing its disease opportunities. © 2010 Society for Applied Microbiology and Blackwell Publishing Ltd.

  17. Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.

    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.

  18. Bleeding points in cerebral hemorrhage caused by Moyamoya disease in adults

    Sasaki, Tatsuya; Sakurai, Yoshiharu; Shimizu, Yukihiko; Ogawa, Akira; Komatsu, Shinro.

    1983-01-01

    Even before the introduction of CT we reported that the intracranial hemorrhage in Moyamoya disease was not subarachnoid hemorrhage but intraventricular hemorrhage and that the bleeding point was the paraventricular subependymal region of lateral ventricles; these findings were based on our experience with three Moyamoya cases in which ventricular hemorrhage occurred and pseudoaneurysms were revealed in the territory of the posterior choroidal artery. Twelve cases with intracranial hemorrhage caused by Moyamoya disease have now been studied by CT in order to determine (1) whether the hemorrhage is subarachnoid or intraventricular, and (2) where the bleeding point is. In the results for the eight cases for which the CT scan was performed within one day after the onset, intraventricular hemorrhage was shown in all cases. The bleeding point was examined in twelve cases; in four cases it was recognized by initial CT only, but if five cases in which ventricular hemorrhage only appeared in the initial CT,follow-up plain and contrast-enhanced CT were necessary. In a total of nine cases, then, bleeding points were recognized. In one case putaminal hemorrhage penetrated into the lateral ventricle, while in eight cases the intracerebral hematoma was located in the paraventricular region of the lateral ventricle, such as at the head of the caudate nucleus or the thalamus. In some cases, small subependymal hematoma projected into the lateral ventricle. In cases with symptoms of intracranial hemorrhage at the onset, the bleeding points were at the paraventricular parenchyma of the lateral ventricle in almost all cases. (author)

  19. Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease.

    Jiang, Hua; Huang, Lv-Yin; Zhen, Li; Jiang, Fan; Li, Dong-Zhi

    Hb H disease is generally a moderate form of α-thalassemia (α-thal) that rarely requires regular blood transfusions. In this study, two Chinese families with members carrying transfusion-dependent Hb H disease were investigated for rare mutations on the α-globin genes (HBA1, HBA2). In one family, Hb Zürich-Albisrieden [α59(E8)Gly→Arg; HBA1: c.178G>C] in combination with the Southeast Asian (- - SEA ) deletion was the defect responsible for the severe phenotype. In another family, a novel hemoglobin (Hb) variant named Hb Sichuan (HBA1: c.393_394insT), causes α-thal and a severe phenotype when associated with the - - SEA deletion. As these two HBA1 mutations can present as continuous blood transfusion-dependent α-thal, it is important to take this point into account for detecting the carriers, especially in couples in which one partner is already a known α 0 -thal carrier.

  20. Schizophrenia: A Pathogenetic Autoimmune Disease Caused by Viruses and Pathogens and Dependent on Genes

    C. J. Carter

    2011-01-01

    Full Text Available Many genes have been implicated in schizophrenia as have viral prenatal or adult infections and toxoplasmosis or Lyme disease. Several autoantigens also target key pathology-related proteins. These factors are interrelated. Susceptibility genes encode for proteins homologous to those of the pathogens while the autoantigens are homologous to pathogens' proteins, suggesting that the risk-promoting effects of genes and risk factors are conditional upon each other, and dependent upon protein matching between pathogen and susceptibility gene products. Pathogens' proteins may act as dummy ligands, decoy receptors, or via interactome interference. Many such proteins are immunogenic suggesting that antibody mediated knockdown of multiple schizophrenia gene products could contribute to the disease, explaining the immune activation in the brain and lymphocytes in schizophrenia, and the preponderance of immune-related gene variants in the schizophrenia genome. Schizophrenia may thus be a “pathogenetic” autoimmune disorder, caused by pathogens, genes, and the immune system acting together, and perhaps preventable by pathogen elimination, or curable by the removal of culpable antibodies and antigens.

  1. Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.

    Tagliabracci, Vincent S; Girard, Jean Marie; Segvich, Dyann; Meyer, Catalina; Turnbull, Julie; Zhao, Xiaochu; Minassian, Berge A; Depaoli-Roach, Anna A; Roach, Peter J

    2008-12-05

    Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years followed by neurodegeneration and death within 10 years. A characteristic is the widespread formation of poorly branched, insoluble glycogen-like polymers (polyglucosan) known as Lafora bodies, which accumulate in neurons, muscle, liver, and other tissues. Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene, which encodes laforin, a member of the dual specificity protein phosphatase family that is able to release the small amount of covalent phosphate normally present in glycogen. In studies of Epm2a(-/-) mice that lack laforin, we observed a progressive change in the properties and structure of glycogen that paralleled the formation of Lafora bodies. At three months, glycogen metabolism remained essentially normal, even though the phosphorylation of glycogen has increased 4-fold and causes altered physical properties of the polysaccharide. By 9 months, the glycogen has overaccumulated by 3-fold, has become somewhat more phosphorylated, but, more notably, is now poorly branched, is insoluble in water, and has acquired an abnormal morphology visible by electron microscopy. These glycogen molecules have a tendency to aggregate and can be recovered in the pellet after low speed centrifugation of tissue extracts. The aggregation requires the phosphorylation of glycogen. The aggregrated glycogen sequesters glycogen synthase but not other glycogen metabolizing enzymes. We propose that laforin functions to suppress excessive glycogen phosphorylation and is an essential component of the metabolism of normally structured glycogen.

  2. Is Chronic Obstructive Pulmonary Disease Caused by Wood Smoke a Different Phenotype or a Different Entity?

    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. Copyright © 2016 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Gastroesophageal Reflux Disease and overall and Cause-specific Mortality: A Prospective Study of 50000 Individuals

    Islami, Farhad; Pourshams, Akram; Nasseri-Moghaddam, Siavosh; Khademi, Hooman; Poutschi, Hossein; Khoshnia, Masoud; Norouzi, Alireza; Amiriani, Taghi; Sohrabpour, Amir Ali; Aliasgari, Ali; Jafari, Elham; Semnani, Shahryar; Abnet, Christian C.; Pharaoh, Paul D.; Brennan, Paul; Kamangar, Farin; Dawsey, Sanford M.; Boffetta, Paolo; Malekzadeh, Reza

    2014-01-01

    BACKGROUND Only a few studies in Western countries have investigated the association between gastroesophageal reflux disease (GERD) and mortality at the general population level and they have shown mixed results. This study investigated the association between GERD symptoms and overall and cause-specific mortality in a large prospective population-based study in Golestan Province, Iran. METHODS Baseline data on frequency, onset time, and patient-perceived severity of GERD symptoms were available for 50001 participants in the Golestan Cohort Study (GCS). We identified 3107 deaths (including 1146 circulatory and 470 cancer-related) with an average follow-up of 6.4 years and calculated hazard ratios (HR) and 95% confidence intervals (CI) adjusted for multiple potential confounders. RESULTS Severe daily symptoms (defined as symptoms interfering with daily work or causing nighttime awakenings on a daily bases, reported by 4.3% of participants) were associated with cancer mortality (HR 1.48, 95% CI: 1.04-2.05). This increase was too small to noticeably affect overall mortality. Mortality was not associated with onset time or frequency of GERD and was not increased with mild to moderate symptoms. CONCLUSION We have observed an association with GERD and increased cancer mortality in a small group of individuals that had severe symptoms. Most patients with mild to moderate GERD can be re-assured that their symptoms are not associated with increased mortality. PMID:24872865

  4. Health risk factors in lead polluted environment causing isthemic health disease

    Khnwal, S.; Rahman, K.U.

    2008-01-01

    Faisalabad is third most populous and industrial city, known as Manchester of Pakistan. Most of the people working in the industries of this city are exposed to highly polluted and toxic environment. Lead is a natural metal found in the environment and its contamination exceeds the range of normal limits by human activities causing a lot of health hazardous. An effort is made to assess the association of anemia and cholesterol with the development IHD among industrial workers who are exposed to the lead polluted environment. For this purpose the study was conducted during a period of one year (2006-7) and the respondents were the patients from industrial area coming to the hospitals visiting at DHQ Hospital Faisalabad. Only those patients were selected for this study who were diagnosed with clinical symptoms of lead toxicity. The demographic features of the respondents regarding their age, gender, marital status, family size, education, income, duration on job, working place and nature of work were considered. The data of this study was categorical nature and this measures the association among exposure to the environment with lead toxicity and causative risk factors i.e., cholesterol level, Hb level (anemia) causing ischemic heart disease (IHD) were studied. (author)

  5. Hemolytic disease of the fetus and newborn caused by anti-Lan.

    Brooks, Sarah; Squires, Jerry E

    2014-05-01

    Antibodies to the high-incidence red blood cell (RBC) antigen Lan (Langereis) are typically immunoglobulin G and have been shown to fix complement and cause hemolysis of Lan antigen-positive RBCs. Only three cases of hemolytic disease of the fetus and newborn (HDFN) have been reported involving anti-Lan and all have been characterized as "mild." A 26-year-old Hispanic female presented in her fifth pregnancy for routine obstetric care. Due to progressively rising anti-Lan titers, middle cerebral artery (MCA) Dopplers were performed. At 32 weeks of gestation, the antibody titer had reached 128; the MCA Doppler indicated that fetal anemia was severe. An intrauterine transfusion with Lan antigen-negative RBCs was performed and a viable infant was delivered 25 days later. Three cases of HDFN associated with anti-Lan have been previously reported. While these cases have been associated with somewhat variable serologic findings, none have resulted in fetal demise or severe symptomatology requiring pre- or postnatal intervention other than routine phototherapy. The current report, however, suggests that in some instances anti-Lan can result in a more severe form of HDFN requiring more aggressive prenatal therapy. In spite of previous case reports suggesting that anti-Lan is associated with relatively mild HDFN, this case suggests that in some instances, this antibody can cause severe HDFN requiring prenatal intervention. © 2013 American Association of Blood Banks.

  6. Enterovirus genotypes causing hand foot and mouth disease in Shanghai, China: a molecular epidemiological analysis.

    Xu, Menghua; Su, Liyun; Cao, Lingfeng; Zhong, Huaqing; Dong, Niuniu; Xu, Jin

    2013-10-22

    A rapid expansion of hand, foot, and mouth disease (HFMD) outbreaks has occurred and caused deaths in China in recent years, but little is known about the other etiologic agents except enterovirus 71 (EV71) and coxsackievirus A 16 (CA16). The objective of this study is to determine the genotype compositions of enterovirus causing HFMD in Shanghai and identify any associations between enterovirus types and clinical manifestations. Stool specimens were collected from patients hospitalized for treatment of HFMD, from May 2010 to April 2011. Enterovirus was detected by reverse transcription PCR and directly genotyped by sequencing the PCR products. Phylogenetic analysis was based on the VP1 partial gene. Of 290 specimens, 277 (95.5%) tested positive for enterovirus. The major genotypes were EV71 (63.8%), CA10 (9.0%), CA6 (8.3%), CA16 (6.9%), CA12 (2.4%), and CA4 (1.4%). The EV71 strains belonged to the C4a subtype and CA16 belonged to the B subtype. CA6 was closely related to strains detected in Japan, Taiwan and China, and CA10, CA12 and CA4 were phylogenetically similar to other strains circulating in China. Mean hospital stays and the prevalence of complications in patients with EV71 infection were higher than those in patients in CA6, CA10 or CA16 infection (P treatment of HFMD patients.

  7. Performance-based regulation: enterprise responsibility for reducing death, injury, and disease caused by consumer products.

    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.

  8. A Case of Frequent Arousal Following Nocturnal Dyspnea Caused by Gastroesophageal Reflux Disease

    Dae Wui Yoon

    2013-06-01

    Full Text Available Gastroesophageal reflux disease (GERD is a common disorder that is associated with many esophageal syndromes and complications. Most cases of reflux event occur during the day, but reflux during sleep can cause not only esophageal problems, but also sleep problems, such as arousal and poor sleep quality. We report the case of a 17-year-old man who had been referred to us with frequent arousal following sudden dyspnea. On polysomnography, no respiratory disturbances and periodic limb movements were found during the sleep study, but frequent events of arousal were reported (arousal index: 12.3/h. On a 24-hr esophageal pH monitoring test, his DeMeester score was 176.43 and the total reflux time was 1120.9 min (76.9%, indicating the presence of significant acid reflux. After treatment with a proton-pump inhibitor, the arousals following nocturnal dyspnea and fatigue in the morning disappeared in the patient. GERD should be considered as a cause of spontaneous arousal or awakening not accompanying respiratory disturbances.

  9. Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

    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. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Does Ureaplasma spp. cause chronic lung disease of prematurity: Ask the audience?

    Maxwell, Nicola C.; Nuttall, Diane; Kotecha, Sailesh

    2009-01-01

    Ureaplasma has long been implicated in the pathogenesis of both preterm labour and neonatal morbidity, particularly chronic lung disease of prematurity (CLD), but despite numerous studies, reviews and meta-analyses, its exact role remains unclear. Many papers call for a definitive randomised control trial to determine if eradication of pulmonary Ureaplasma decreases the rates of CLD but few address in detail the obstacles to an adequately powered clinical trial. We review the evidence for Ureaplasma as a causative agent in CLD, asking why a randomised control trial has not been performed. We surveyed the opinions of senior neonatologists in the UK on whether they felt that there was sufficient evidence for Ureaplasma either causing or not causing CLD and whether a definitive trial was needed, as well as their views on the design of such a trial. Additionally, we ascertained current practice with respect to Ureaplasma detection in preterm neonates in the UK. There is clear support for an adequately powered randomised controlled clinical trial by senior neonatologists in the UK. There are no reasons why a definitive trial cannot be conducted especially as the appropriate samples, and methods to culture or identify the organism by PCR are already available. PMID:19144476

  11. Biocontrol potential of Trichoderma harzianum in controlling wilt disease of pistachio caused by Verticillium dahliae

    Fotoohiyan Zeinab

    2017-06-01

    Full Text Available Verticillium wilt caused by Verticillium dahliae, is one of the most devastating diseases in pistachio orchards in the world including Iran. In search for an effective non-chemical strategy for the management of this disease, we evaluated the biocontrol potential of Trichoderma harzianum isolates obtained from the rhizosphere of healthy pistachio trees in different locations of the Kerman province of Iran against V. dahliae under laboratory and greenhouse conditions. Dual culture tests in the laboratory were conducted in a completely randomized design using 72 T. harzianum isolates. Twenty isolates showed the highest in vitro antagonistic activity. The results indicated that all 20 isolates were capable of inhibiting the mycelial growth of V. dahliae significantly. Among them, isolates Tr8 and Tr19 were the most effective by 88.89% and 85.12% inhibition, respectively. Extracted cell free metabolites of all effective isolates also inhibited the growth of V. dahliae in the culture medium significantly. According to the results, isolates Tr4 and Tr6 inhibited fungal pathogen growth by 94.94% and 88.15% respectively, through production of non-volatile metabolites. In the evaluation of volatile metabolites, isolates Tr5 and Tr4 were the most effective by 26.27% and 24.49% growth inhibition, respectively. Based on the results of the in vitro experiments, the five most effective isolates were selected for evaluation under greenhouse conditions for their biocontrol potential in controlling Verticillium wilt of pistachio. Results of the greenhouse, (in vivo experiments were positive and indicated that the occurrence of wilt disease in plants treated with the antagonists alone or in combination with pathogenic fungus was lower than in plants inoculated with pathogen alone. The overall results of this study suggest that Trichoderma fungal antagonist may be an effective biocontrol agent for the control of Verticillium wilt of pistachio.

  12. Effects of habitual coffee consumption on cardiometabolic disease, cardiovascular health, and all-cause mortality.

    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. Copyright © 2013 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  13. Primary and Secondary Yield Losses Caused by Pests and Diseases: Assessment and Modeling in Coffee.

    Cerda, Rolando; Avelino, Jacques; Gary, Christian; Tixier, Philippe; Lechevallier, Esther; Allinne, Clémentine

    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.

  14. Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

    Faucz, Fabio R; Tirosh, Amit; Tatsi, Christina; Berthon, Annabel; Hernández-Ramírez, Laura C; Settas, Nikolaos; Angelousi, Anna; Correa, Ricardo; Papadakis, Georgios Z; Chittiboina, Prashant; Quezado, Martha; Pankratz, Nathan; Lane, John; Dimopoulos, Aggeliki; Mills, James L; Lodish, Maya; Stratakis, Constantine A

    2017-08-01

    Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric population has not been extensively assessed. We investigated the status of the USP8 gene at the somatic level in a cohort of pediatric patients with corticotroph adenomas. The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric patients with CD. Clinical, biochemical, and imaging data were compared between patients with and without somatic USP8 mutations. Five different USP8 mutations (three missense, one frameshift, and one in-frame deletion) were identified in 13 patients (31%), all of them located in exon 14 at the previously described mutational hotspot, affecting the 14-3-3 binding motif of the protein. Patients with somatic mutations were older at disease presentation [mean 5.1 ± 2.1 standard deviation (SD) vs 13.1 ± 3.6 years, P = 0.03]. Levels of urinary free cortisol, midnight serum cortisol, and adrenocorticotropic hormone, as well as tumor size and frequency of invasion of the cavernous sinus, were not significantly different between the two groups. However, patients harboring somatic USP8 mutations had a higher likelihood of recurrence compared with patients without mutations (46.2% vs 10.3%, P = 0.009). Somatic USP8 gene mutations are a common cause of pediatric CD. Patients harboring a somatic mutation had a higher likelihood of tumor recurrence, highlighting the potential importance of this molecular defect for the disease prognosis and the development of targeted therapeutic options. Copyright © 2017 Endocrine Society

  15. Linking global climate and temperature variability to widespread amphibian declines putatively caused by disease.

    Rohr, Jason R; Raffel, Thomas R

    2010-05-04

    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.

  16. Dysphagia Causes Symptom Fluctuations after Oral L-DOPA Treatment in a Patient with Parkinson Disease

    Hiromasa Sato

    2018-03-01

    Full Text Available Objective: The causes of “delayed-on” and “no-on” phenomena in Parkinson disease (PD are thought to have some impact on the progress of L-DOPA from the time of ingestion until it reaches the brain and is converted to dopamine. Dysphagia can cause fluctuating symptom expression in L-DOPA therapy for PD. Case Description: A 69-year-old man with PD presented with “delayed-on” and “no-on” phenomena. The patient developed a gait disorder at age 60 years, and he began coughing on his food during breakfast at age 64 years. Even though he was independent in daily life, he could not eat because of dysphagia in an “off” state. Videofluoroscopic examination of swallowing in an “off” state revealed bradykinesia of the tongue and the retention of tablets in the epiglottic vallecula. We trained him to keep his tongue in strong contact with the upper incisors before swallowing. After rehabilitation of dysphagia, the frequency of “delayed-on” and “no-on” phenomena decreased, and his peak L-DOPA plasma concentration was elevated. Additionally, transdermal rotigotine (RTG was initiated at a maintenance dose of 9.0 mg. The patient reported improvement in swallowing, and the frequency of “no-on” phenomena decreased. Conclusion: In PD patients, the “no-on” phenomenon can be caused by posterior contractile dysfunction of the tongue, and it can be improved with training of the tongue and transdermal RTG administration.

  17. Mucor rot - An emerging postharvest disease of mandarin fruit caused by Mucor piriformis and other Mucor spp. in California

    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...

  18. Interleukin-6 Deficiency Does Not Affect Motor Neuron Disease Caused by Superoxide Dismutase 1 Mutation.

    Han, Yongmei; Ripley, Barry; Serada, Satoshi; Naka, Tetsuji; Fujimoto, Minoru

    2016-01-01

    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. 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. 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. These results provide compelling preclinical evidence indicating that IL-6 does not directly contribute to motor neuron disease caused by SOD1 mutations.

  19. Interleukin-6 Deficiency Does Not Affect Motor Neuron Disease Caused by Superoxide Dismutase 1 Mutation.

    Yongmei Han

    Full Text Available 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.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.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.These results provide compelling preclinical evidence indicating that IL-6 does not directly contribute to motor neuron disease caused by SOD1 mutations.

  20. Disease and predation: sorting out causes of a bighorn sheep (Ovis canadensis decline.

    Joshua B Smith

    Full Text Available 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 AIC c (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.

  1. Disease and predation: Sorting out causes of a bighorn sheep (Ovis canadensis) decline

    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.

  2. Fitness, work, and leisure-time physical activity and ischaemic heart disease and all-cause mortality among men with pre-existing cardiovascular disease

    Holtermann, Andreas; Mortensen, Ole Steen; Burr, Hermann

    2010-01-01

    Our aim was to study the relative impact of physical fitness, physical demands at work, and physical activity during leisure time on ischaemic heart disease (IHD) and all-cause mortality among employed men with pre-existing cardiovascular disease (CVD)....

  3. Metabolic syndrome in Russian adults: associated factors and mortality from cardiovascular diseases and all causes

    Grjibovski Andrej M

    2010-09-01

    Full Text Available Abstract Background Metabolic syndrome (MetS is a cluster of four major obesity-related risk factors for cardiovascular disease (CVD. Russia has one of the highest CVD mortality in the world, but its association with MetS remains unknown. Also little is known about factors associated with MetS and its components in Russia. Methods Data on 3555 adults aged 18-90 years were collected in a cross-sectional study in 2000. MetS was defined by the International Diabetes Federation (IDF and National Cholesterol Education Program (NCEP criteria. Sex-specific associations between the IDF-defined MetS, its components, and life-style, socio-economic factors and laboratory indicators, were analysed using multivariable Poisson regression. Vital status of the study participants was identified by July 2009. Sex-specific associations between MetS and stroke, Coronary Heart Disease (CHD, CVD and all-cause death, were studied by Poisson regression adjusted for age, smoking, alcohol and history of CVDs. Results After adjustment for all studied factors except BMI, age, serum GGT, C-reactive protein and AST-to-ALT ratio were associated with MetS in both genders. Additionally, MetS was associated with sedentary lifestyle in women and with smoking in men. In the same regression model drinking alcohol 2-4 times a month and consumption of five or more alcohol units at one occasion in men, and drinking alcohol 5 times or more a month in women were inversely associated with MetS. After a 9-year follow-up, MetS was associated with higher risk of death from stroke (RR = 3.76, 95% CI:1.35-10.46 and from either stroke or myocardial infarction (MI, RR = 2.87, 95% CI:1.32-6.23 in men. No associations between MetS and any of the studied causes of death were observed in women. Conclusion Factors associated with MetS in both genders were age, GGT, C-reactive protein, and AST-to-ALT ratio. Moderate frequency of alcohol consumption and binge drinking in men and higher leisure time

  4. Cause-specific mortality for 249 causes in Brazil and states during 1990–2015: a systematic analysis for the global burden of disease study 2015

    Elisabeth B. França

    2017-11-01

    Full Text Available Abstract Background Reliable data on cause of death (COD are fundamental for planning and resource allocation priorities. We used GBD 2015 estimates to examine levels and trends for the leading causes of death in Brazil from 1990 to 2015. Methods We describe the main analytical approaches focused on both overall and specific causes of death for Brazil and Brazilian states. Results There was an overall improvement in life expectancy at birth from 1990 to 2015, but with important heterogeneity among states. Reduced mortality due to diarrhea, lower respiratory infections, and other infectious diseases contributed the most for increasing life expectancy in most states from the North and Northeast regions. Reduced mortality due to cardiovascular diseases was the highest contributor in the South, Southeast, and Center West regions. However, among men, intentional injuries reduced life expectancy in 17 out of 27 states. Although age-standardized rates due to ischemic heart disease (IHD and cerebrovascular disease declined over time, these remained the leading CODs in the country and states. In contrast, leading causes of premature mortality changed substantially - e.g., diarrheal diseases moved from 1st to 13th and then the 36th position in 1990, 2005, and 2015, respectively, while violence moved from 7th to 1st and to 2nd. Overall, the total age-standardized years of life lost (YLL rate was reduced from 1990 to 2015, bringing the burden of premature deaths closer to expected rates given the country’s Socio-demographic Index (SDI. In 1990, IHD, stroke, diarrhea, neonatal preterm birth complications, road injury, and violence had ratios higher than the expected, while in 2015 only violence was higher, overall and in all states, according to the SDI. Conclusions A widespread reduction of mortality levels occurred in Brazil from 1990 to 2015, particularly among children under 5 years old. Major shifts in mortality rates took place among communicable

  5. The Built Environment—A Missing “Cause of the Causes” of Non-Communicable Diseases

    Kelvin L. Walls

    2016-09-01

    Full Text Available 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.

  6. A mouse-adapted SARS-coronavirus causes disease and mortality in BALB/c mice.

    Anjeanette Roberts

    2007-01-01

    Full Text Available No single animal model for severe acute respiratory syndrome (SARS reproduces all aspects of the human disease. Young inbred mice support SARS-coronavirus (SARS-CoV replication in the respiratory tract and are available in sufficient numbers for statistical evaluation. They are relatively inexpensive and easily accessible, but their use in SARS research is limited because they do not develop illness following infection. Older (12- to 14-mo-old BALB/c mice develop clinical illness and pneumonitis, but they can be hard to procure, and immune senescence complicates pathogenesis studies. We adapted the SARS-CoV (Urbani strain by serial passage in the respiratory tract of young BALB/c mice. Fifteen passages resulted in a virus (MA15 that is lethal for mice following intranasal inoculation. Lethality is preceded by rapid and high titer viral replication in lungs, viremia, and dissemination of virus to extrapulmonary sites accompanied by lymphopenia, neutrophilia, and pathological changes in the lungs. Abundant viral antigen is extensively distributed in bronchial epithelial cells and alveolar pneumocytes, and necrotic cellular debris is present in airways and alveoli, with only mild and focal pneumonitis. These observations suggest that mice infected with MA15 die from an overwhelming viral infection with extensive, virally mediated destruction of pneumocytes and ciliated epithelial cells. The MA15 virus has six coding mutations associated with adaptation and increased virulence; when introduced into a recombinant SARS-CoV, these mutations result in a highly virulent and lethal virus (rMA15, duplicating the phenotype of the biologically derived MA15 virus. Intranasal inoculation with MA15 reproduces many aspects of disease seen in severe human cases of SARS. The availability of the MA15 virus will enhance the use of the mouse model for SARS because infection with MA15 causes morbidity, mortality, and pulmonary pathology. This virus will be of value as

  7. ANALYSIS OF DISEASE MODIFYING DRUGS ADMINISTRATION FREGUENCY AND CAUSES OF THEIR WITHDRAWAL IN RHEUMATOID ARTHRITIS

    E V Pavlova

    2000-01-01

    Full Text Available Aim of studdy: To assess the frequency of practical application of different basic drugs in rheumatoid arthritis (RA. Material and methods: Tlxe study was conducted basing of questionner of pts and analysis of ycases by randomized sampling among 103 consequent pts (M:F= 13:90 with reliable RA (ARA, 1987 in rheumatologic department of Clinical Hospital Nol in Ekaterinburg. 74% of pts under study demonstrated systemic manifestations: anemia (in 47 pts, lymphadenopathy (in 34, rheumatoid nodules (in 15, Sjogren s syndrome (in 4, nephropathy (in 4, vascular disturbances including Raynaud s phenomenon, capillarites (by 1 pt. Results: In the course of disease basic therapy was prescribed to 88 out of103 (85.4% pts and one and the same patient could take different basic drugs. Aminochinoline drugs prevailed, after them more frequent were immunodepressants and gold preparations. More rarely pts had sulfasalazin, cuprenil and wobenzym. In general, in 133 out of 184 cases of prescribing basic drugs they were canceled. The reason for cancellation were: prevalently absence of the drug in the pharmaceutical stores (in 48 cases averagely in 8 months of taking the drug; then they insufficient efficacy (44 cases averagely in 1.3 year. In 18 cases pts themselves stopped treatment averagely in 3.5 months of drug taking. Conclusion: In the majority of cases of basic drugs cancellation in RA the cause is their absence in sail especially on free of charge prescription. Cases ofself-cancellation of the drug demonstrate the need of explaining to pts the necessity> of long-term taking disease-modifying drugs.

  8. Analysis of the Legionella longbeachae genome and transcriptome uncovers unique strategies to cause Legionnaires' disease.

    Christel Cazalet

    2010-02-01

    Full Text Available 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

  9. Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses.

    Bauquier, J; Stent, A; Gibney, J; Jerrett, I; White, J; Tennent-Brown, B; Pearce, A; Pitt, J

    2017-05-01

    Investigation of toxicosis caused by Malva parviflora was required after 4 horses from the same farm developed severe muscle fasciculations, tachycardia, sweating and periods of recumbency leading to death or euthanasia after ingesting the plant. To describe historical, clinical, clinicopathological and pathological findings of 4 horses with suspected M. parviflora toxicosis. The role of cyclopropene fatty acids (found in M. parviflora) and mechanism for toxicosis are proposed. Case series. Historical, physical examination, clinicopathological and pathological findings are reported. Due to similarities with atypical myopathy or seasonal pasture myopathy acyl carnitine profiles were performed on sera from 2 cases and equine controls. Presence of cyclopropene fatty acids was also examined in sera of 2 cases. M. parviflora had been heavily grazed by the horses with little other feed available. Horse 1 deteriorated rapidly and was subjected to euthanasia. Horse 2 was referred to hospital where severe myocardial disease and generalised myopathy was determined; this horse was subjected to euthanasia 36 h after admission. Horse 3 died rapidly and Horse 4 was subjected to euthanasia at onset of clinical signs. Post-mortem examinations performed on 3 horses revealed acute, multifocal cardiac and skeletal myonecrosis. Myocyte glycogen accumulation was absent when examined in Horse 2. Acyl carnitine profiles revealed increased C14-C18 acyl carnitine concentrations in cases relative to controls. Cyclopropene fatty acids were detected in sera of cases but not controls. These findings suggest aetiology different to that of atypical myopathy or seasonal pasture myopathy. We hypothesise that cyclopropene fatty acids in M. parviflora interfere with fatty acid β-oxidation in horses in negative energy balance, causing the clinical signs and abnormal acyl carnitine profiles. These equine cases suggest a pathophysiological course that closely mimics the human genetic condition very

  10. Enterovirus genotypes causing hand foot and mouth disease in Shanghai, China: a molecular epidemiological analysis

    2013-01-01

    Background A rapid expansion of hand, foot, and mouth disease (HFMD) outbreaks has occurred and caused deaths in China in recent years, but little is known about the other etiologic agents except enterovirus 71 (EV71) and coxsackievirus A 16 (CA16). The objective of this study is to determine the genotype compositions of enterovirus causing HFMD in Shanghai and identify any associations between enterovirus types and clinical manifestations. Methods Stool specimens were collected from patients hospitalized for treatment of HFMD, from May 2010 to April 2011. Enterovirus was detected by reverse transcription PCR and directly genotyped by sequencing the PCR products. Phylogenetic analysis was based on the VP1 partial gene. Results Of 290 specimens, 277 (95.5%) tested positive for enterovirus. The major genotypes were EV71 (63.8%), CA10 (9.0%), CA6 (8.3%), CA16 (6.9%), CA12 (2.4%), and CA4 (1.4%). The EV71 strains belonged to the C4a subtype and CA16 belonged to the B subtype. CA6 was closely related to strains detected in Japan, Taiwan and China, and CA10, CA12 and CA4 were phylogenetically similar to other strains circulating in China. Mean hospital stays and the prevalence of complications in patients with EV71 infection were higher than those in patients in CA6, CA10 or CA16 infection (P enterovirus genotypes. It deserves our attention as early identification of enterovirus genotypes is important for diagnosis and treatment of HFMD patients. PMID:24148902

  11. Prevalence of chronic liver disease and cirrhosis by underlying cause in understudied ethnic groups: The multiethnic cohort.

    Setiawan, Veronica Wendy; Stram, Daniel O; Porcel, Jacqueline; Lu, Shelly C; Le Marchand, Loïc; Noureddin, Mazen

    2016-12-01

    Chronic liver disease (CLD) and cirrhosis are major sources of morbidity and mortality in the United States. Little is known about the epidemiology of these two diseases in ethnic minority populations in the United States. We examined the prevalence of CLD and cirrhosis by underlying etiologies among African Americans, Native Hawaiians, Japanese Americans, Latinos, and whites in the Multiethnic Cohort. CLD and cirrhosis cases were identified using Medicare claims between 1999 and 2012 among the fee-for-service participants (n = 106,458). We used International Classification of Diseases Ninth Revision codes, body mass index, history of diabetes mellitus, and alcohol consumption from questionnaires to identify underlying etiologies. A total of 5,783 CLD (3,575 CLD without cirrhosis and 2,208 cirrhosis) cases were identified. The prevalence of CLD ranged from 3.9% in African Americans and Native Hawaiians to 4.1% in whites, 6.7% in Latinos, and 6.9% in Japanese. Nonalcoholic fatty liver disease (NAFLD) was the most common cause of CLD in all ethnic groups combined (52%), followed by alcoholic liver disease (21%). NAFLD was the most common cause of cirrhosis in the entire cohort. By ethnicity, NAFLD was the most common cause of cirrhosis in Japanese Americans, Native Hawaiians, and Latinos, accounting for 32% of cases. Alcoholic liver disease was the most common cause of cirrhosis in whites (38.2%), while hepatitis C virus was the most common cause in African Americans (29.8%). We showed racial/ethnic variations in the prevalence of CLD and cirrhosis by underlying etiology; NAFLD was the most common cause of CLD and cirrhosis in the entire cohort, and the high prevalence of NAFLD among Japanese Americans and Native Hawaiians is a novel finding, warranting further studies to elucidate the causes. (Hepatology 2016;64:1969-1977). © 2016 by the American Association for the Study of Liver Diseases.

  12. Lower limb atherosclerotic disease causes various deteriorations of patients' health-related quality of life.

    Koivunen, Kirsi; Lukkarinen, Hannele

    2006-12-01

    middle-aged men was significantly poorer than that of controls. Male sex, retirement, asymptomatic walking distance, other atherosclerotic disease, lack of exercise, and feeling incapable of performing daily activities are important causes of impaired HRQoL. Health care professionals should pay extra attention to the development of rehabilitation programs aimed at preventing patients with LLAD from experiencing a myriad of problems.

  13. Severe rickets in a young girl caused by celiac disease: the tragedy of delayed diagnosis: a case report.

    Al-Sharafi, Butheinah A; Al-Imad, Shafiq A; Shamshair, Amani M; Al-Faqeeh, Derhim H

    2014-10-08

    Celiac disease is a systemic immune mediated disease which usually presents with gastrointestinal symptoms, but it may present with extra gastrointestinal manifestations such as metabolic bone disease and failure to thrive. This may lead to a delay in the diagnosis. We present a 13 year old female from the middle east with an 8 year history of severe rickets causing multiple bone deformities leaving the child crippled with bowing of both of her arms and legs. The patient was also found to have growth failure, anemia and on further workup she was found to have celiac disease. We are presenting this case because it shows a severe case of rickets after malabsorption for many years. Celiac disease should be kept in mind as a cause of rickets in patients not responding to usual forms of treatment or when associated with other manifestations of malabsorption.

  14. Chronic kidney disease of unknown aetiology in Sri Lanka: is cadmium a likely cause?

    Peiris-John Roshini J

    2011-07-01

    Full Text Available Abstract Background The rising prevalence of chronic kidney disease (CKD and subsequent end stage renal failure necessitating renal replacement therapy has profound consequences for affected individuals and health care resources. This community based study was conducted to identify potential predictors of microalbuminuria in a randomly selected sample of adults from the North Central Province (NCP of Sri Lanka, where the burden of CKD is pronounced and the underlying cause still unknown. Methods Exposures to possible risk factors were determined in randomly recruited subjects (425 females and 461 males from selected areas of the NCP of Sri Lanka using an interviewer administered questionnaire. Sulphosalicylic acid and the Light Dependent Resister microalbumin gel filtration method was used for initial screening for microalbuminuria and reconfirmed by the Micral strip test. Results Microalbumnuria was detected in 6.1% of the females and 8.5% of the males. Smoking (p Conclusions Hypertension, diabetes mellitus, UTI, and smoking are known risk factors for microalbuminuria. The association between microalbuminuria and consumption of well water suggests an environmental aetiology to CKD in NCP. The causative agent is yet to be identified. Investigations for cadmium as a potential causative agent needs to be initiated.

  15. Does taurine deficiency cause metabolic bone disease and rickets in polar bear cubs raised in captivity?

    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. Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.

    Tan, A Y; Blumenfeld, J; Michaeel, A; Donahue, S; Bobb, W; Parker, T; Levine, D; Rennert, H

    2015-04-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysis of ADPKD in a 19-year-old female proband and her father. The proband had a PKD1 truncation mutation c.10745dupC (p.Val3584ArgfsX43), which was absent in paternal peripheral blood lymphocytes (PBL). However, very low quantities of this mutation were detected in the father's sperm DNA, but not in DNA from his buccal cells or urine sediment. Next generation sequencing (NGS) analysis determined the level of this mutation in the father's PBL, buccal cells and sperm to be ∼3%, 4.5% and 10%, respectively, consistent with somatic and germline mosaicism. The PKD1 mutation in ∼10% of her father's sperm indicates that it probably occurred early in embryogenesis. In ADPKD cases where a de novo mutation is suspected because of negative PKD gene testing of PBL, additional evaluation with more sensitive methods (e.g. NGS) of the proband PBL and paternal sperm can enhance detection of mosaicism and facilitate genetic counseling. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Survey of diseases caused by Fusarium spp. on palm trees in the Canary Islands

    Julio Hernández-Hernández

    2010-05-01

    Full Text Available Between 2006 and 2007, palm trees growing in both gardens and public parks and natural palm groves in the Canary Islands (Spain, and showing symptoms of wilt and dieback, were surveyed. Isolates were recovered from affected tissues of the crowns, leaves and vascular fragments on potato dextrose agar (PDA. After incubation, the Fusarium spp. colonies recovered were single-spored. They were transferred to PDA and Spezieller Nahrstoffarmer Agar (SNA for morphological identification. Identification of Fusarium oxysporum f. sp. Canariensis was confirmed by PCR with the specific primers HK66 and HK67, which amplified a fragment of 567 bp. Fusarium wilt caused by F. oxysporum f. sp. canariensis was found on 54 Phoenix canariensis trees growing on four islands: Gran Canaria, Fuerteventura, La Palma and Tenerife. F. proliferatum occurred on fifteen palms (10 P. canariensis, 1 P. dactylifera, 3 Roystonea regia and 1 Veitchia joannis located in Gran Canaria, Fuerteventura and Tenerife. Both these Fusarium species were found only in diseased palms from gardens and public parks, but not in natural palm groves. The results show that Fusarium wilt of P. canariensis is common in the Canary Islands and for the first time report F. proliferatum affecting different palm species in those islands.

  18. Extracellular matrix formation enhances the ability of Streptococcus pneumoniae to cause invasive disease.

    Claudia Trappetti

    Full Text Available During infection, pneumococci exist mainly in sessile biofilms rather than in planktonic form, except during sepsis. However, relatively little is known about how biofilms contribute to pneumococcal pathogenesis. Here, we carried out a biofilm assay on opaque and transparent variants of a clinical serotype 19F strain WCH159. After 4 days incubation, scanning electron microscopy revealed that opaque biofilm bacteria produced an extracellular matrix, whereas the transparent variant did not. The opaque biofilm-derived bacteria translocated from the nasopharynx to the lungs and brain of mice, and showed 100-fold greater in vitro adherence to A549 cells than transparent bacteria. Microarray analysis of planktonic and sessile bacteria from transparent and opaque variants showed differential gene expression in two operons: the lic operon, which is involved in choline uptake, and in the two-component system, ciaRH. Mutants of these genes did not form an extracellular matrix, could not translocate from the nasopharynx to the lungs or the brain, and adhered poorly to A549 cells. We conclude that only the opaque phenotype is able to form extracellular matrix, and that the lic operon and ciaRH contribute to this process. We propose that during infection, extracellular matrix formation enhances the ability of pneumococci to cause invasive disease.

  19. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

    Inoue, K.; Sugiyama, N.; Kawanishi, C. [Yokohama City Univ., Yokohama (Japan)] [and others

    1996-07-01

    Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused by abnormalities in the proteolipid protein (PLP) gene, which is essential for oligodendrocyte differentiation and CNS myelin formation. Although linkage analysis has shown the homogeneity at the PLP locus in patients with PMD, exonic mutations in the PLP gene have been identified in only 10% - 25% of all cases, which suggests the presence of other genetic aberrations, including gene duplication. In this study, we examined five families with PMD not carrying exonic mutations in PLP gene, using comparative multiplex PCR (CM-PCR) as a semiquantitative assay of gene dosage. PLP gene duplications were identified in four families by CM-PCR and confirmed in three families by densitometric RFLP analysis. Because a homologous myelin protein gene, PMP22, is duplicated in the majority of patients with Charcot-Marie-Tooth 1A, PLP gene overdosage may be an important genetic abnormality in PMD and affect myelin formation. 38 ref., 5 figs., 2 tabs.

  20. Seedling regeneration on decayed pine logs after the deforestation events caused by pine wilt disease

    Y. Fukasawa

    2016-12-01

    Full Text Available Coarse woody debris (CWD forms an important habitat suitable for tree seedling establishment, and the CWD decay process influences tree seedling community. In Japan, a severe dieback of Pinus densiflora Sieb. & Zucc. caused by pine wilt disease (PWD damaged huge areas of pine stands but creates huge mass of pine CWD. It is important to know the factors influencing seedling colonization on pine CWD and their variations among geographical gradient in Japan to expect forest regeneration in post-PWD stands. I conducted field surveys on the effects of latitude, climates, light condition, decay type of pine logs, and log diameter on tree seedling colonization at ten geographically distinct sites in Japan. In total, 59 tree taxa were recorded as seedlings on pine logs. Among them, 13 species were recorded from more than five sites as adult trees or seedlings and were used for the analyses. A generalized linear model showed that seedling colonization of Pinus densiflora was negatively associated with brown rot in sapwood, while that of Rhus trichocarpa was positively associated with brown rot in heartwood. Regeneration of Ilex macropoda had no relationships with wood decay type but negatively associated with latitude and MAT, while positively with log diameter. These results suggested that wood decay type is a strong determinant of seedling establishment for certain tree species, even at a wide geographical scale; however, the effect is tree species specific.

  1. Pemphigus—A Disease of Desmosome Dysfunction Caused by Multiple Mechanisms

    Volker Spindler

    2018-02-01

    Full Text Available Pemphigus is a severe autoimmune-blistering disease of the skin and mucous membranes caused by autoantibodies reducing desmosomal adhesion between epithelial cells. Autoantibodies against the desmosomal cadherins desmogleins (Dsgs 1 and 3 as well as desmocollin 3 were shown to be pathogenic, whereas the role of other antibodies is unclear. Dsg3 interactions can be directly reduced by specific autoantibodies. Autoantibodies also alter the activity of signaling pathways, some of which regulate cell cohesion under baseline conditions and alter the turnover of desmosomal components. These pathways include Ca2+, p38MAPK, PKC, Src, EGFR/Erk, and several others. In this review, we delineate the mechanisms relevant for pemphigus pathogenesis based on the histology and the ultrastructure of patients’ lesions. We then dissect the mechanisms which can explain the ultrastructural hallmarks detectable in pemphigus patient skin. Finally, we reevaluate the concept that the spectrum of mechanisms, which induce desmosome dysfunction upon binding of pemphigus autoantibodies, finally defines the clinical phenotype.

  2. SERCA2 Haploinsufficiency in a Mouse Model of Darier Disease Causes a Selective Predisposition to Heart Failure

    Vikram Prasad

    2015-01-01

    Full Text Available Null mutations in one copy of ATP2A2, the gene encoding sarco/endoplasmic reticulum Ca2+-ATPase isoform 2 (SERCA2, cause Darier disease in humans, a skin condition involving keratinocytes. Cardiac function appears to be unimpaired in Darier disease patients, with no evidence that SERCA2 haploinsufficiency itself causes heart disease. However, SERCA2 deficiency is widely considered a contributing factor in heart failure. We therefore analyzed Atp2a2 heterozygous mice to determine whether SERCA2 haploinsufficiency can exacerbate specific heart disease conditions. Despite reduced SERCA2a levels in heart, Atp2a2 heterozygous mice resembled humans in exhibiting normal cardiac physiology. When subjected to hypothyroidism or crossed with a transgenic model of reduced myofibrillar Ca2+-sensitivity, SERCA2 deficiency caused no enhancement of the disease state. However, when combined with a transgenic model of increased myofibrillar Ca2+-sensitivity, SERCA2 haploinsufficiency caused rapid onset of hypertrophy, decompensation, and death. These effects were associated with reduced expression of the antiapoptotic Hax1, increased levels of the proapoptotic genes Chop and Casp12, and evidence of perturbations in energy metabolism. These data reveal myofibrillar Ca2+-sensitivity to be an important determinant of the cardiac effects of SERCA2 haploinsufficiency and raise the possibility that Darier disease patients are more susceptible to heart failure under certain conditions.

  3. Occupational diseases caused by ionizing radiation in medical personnel in the Czech Republic in 1974-1997

    Fenclova, Z.; Pelclova, D.; Lebedova, J.; Urban, P.; Petrova, K.

    1999-01-01

    During 1974-1997, the incidence of occupational diseases caused by ionizing radiation in medical personnel was low (0 to 0.4 % of all notified occupational diseases, with a decreasing tendency over this period of time). There have been 136 cases of occupational diseases caused by ionizing radiation; in this, 111 cases occurred in the health care sector. Radiation dermatitis was the most frequent disease (88 cases). Physicians constituted the most affected occupational group in the 1991 - 1997 period. The age of the affected physicians lay in the range of 45 to 77. The personnel affected by radiation dermatitis had the shortest (5 years) as well as longest (46 years) exposure. Lung cancer caused by radioactive chemicals was only diagnosed in two persons in the health care sector during 1974 - 1997. It should be noted that the occupational diseases were caused by elevated exposures experienced in previous years or developed as a consequence of radiation accidents. In view of the present advanced level of protection against ionizing radiation, the numbers of this kind of disease is not expected to grow any further

  4. Toxin Gene Analysis of a Variant Strain of Clostridium difficile That Causes Human Clinical Disease

    Sambol, Susan P.; Merrigan, Michelle M.; Lyerly, David; Gerding, Dale N.; Johnson, Stuart

    2000-01-01

    A toxin variant strain of Clostridium difficile was isolated from two patients with C. difficile-associated disease (CDAD), one of whom died from extensive pseudomembranous colitis. This strain, identified by restriction endonuclease analysis (REA) as type CF2, was not detected by an immunoassay for C. difficile toxin A. Culture supernatants of CF2 failed to elicit significant enterotoxic activity in the rabbit ileal loop assay but did produce atypical cytopathic effects in cell culture assay. Southern hybridization, PCR amplification, and DNA sequence analyses were performed on the toxin A (tcdA) and toxin B (tcdB) genes of type CF2 isolate 5340. Type CF2 5340 tcdA exhibited a 1,821-bp truncation, due to three deletions in the 3′ end of the gene, and a point mutation in the 5′ end of the gene, resulting in a premature stop codon at tcdA position 139. Type CF2 5340 tcdB exhibited multiple nucleotide base substitutions in the 5′ end of the gene compared to tcdB of the standard toxigenic strain VPI 10463. Type CF2 5340 toxin gene nucleotide sequences and deduced amino acid sequences showed a strong resemblance to those of the previously described variant C. difficile strain 1470, a strain reported to have reduced pathogenicity and no association with clinical illness in humans. REA of strain 1470 identified this strain as a distinct type (CF1) within the same REA group as the closely related type CF2. A review of our clinical-isolate collection identified five additional patients infected with type CF2, three of whom had documented CDAD. PCR amplification of the 3′ end of tcdA demonstrated identical 1.8-kb deletions in all seven type CF2 isolates. REA type CF2 is a toxin variant strain of C. difficile that retains the ability to cause disease in humans but is not detected in clinical immunoassays for toxin A. PMID:10992443

  5. Human exposure to polyhexamethylene guanidine phosphate from humidifiers in residential settings: Cause of serious lung disease.

    Lee, Ji Hyun; Yu, Il Je

    2017-11-01

    in the apartment rooms for fall and winter were 22.5 ± 1.7°C, 74.5 ± 15.6% and 22.0 ± 2°C, 51.1 ± 12.9%, respectively. Different RHs in the fall and winter resulted in very different airborne concentrations of disinfectant in the apartment rooms. Exposure levels and PSD of mists generated from ultrasonic humidifiers in apartments are not sufficient to conclude that PHMG causes lung disease in Korean residences.

  6. Role of postoperative radiation therapy after stabilization of fractures caused by metastatic disease

    Townsend, Patrick W; Smalley, Stephen R; Cozad, Scott C; Rosenthal, Howard G; Hassanein, Ruth E S

    1995-01-01

    Purpose: Although orthopedic stabilization is frequently performed for pathological fractures caused by metastatic disease, no data is available to support the value of postoperative radiation therapy (S+RT) in this setting. Methods and Materials: We reviewed 64 orthopedic stabilization procedures in 60 consecutive patients with metastatic disease to previously unirradiated weight-bearing bones with pathological or impending pathological fracture (femur 91%). Thirty-five sites that received adjuvant S+RT were compared to 29 sites that were treated with surgery alone (SA). Many potential prognostic variables were evaluated. Endpoints were: functional status (FS) of the extremity (1 = normal pain free use; 2 = normal use with pain, 3 significantly limited use; 4 = nonfunctional extremity), subsequent orthopedic procedures to the same site, and survival following surgery. Results: At the univariate level, S+RT (p = 0.02) and prefracture FS (p 0.04) were the only significant predictors of patients achieving an FS of 1 or 2 after surgery. On multivariate analysis, only postoperative RT was significantly (p = 0.02) associated with attaining FS of 1 or 2 after surgery. The predicted probability of achieving FS 1 or 2 at any time was 53% for S+RT vs. 11.5% or SA (multiple logistic regression, p < 0.01). Evaluation of FS following surgery revealed that S+RT group had significantly better function in the 1-3, 3-6, and 6-12 month postoperative periods (chi-square, p < 0.04 for each time period). Second orthopedic procedures to the same site were more common in the SA group than the S+RT group (log rank, p = 0.03). Actuarial median survival of S group was 3.3 months compared with 12.4 months for the S+RT group (log rank, p = 0.02), confirming the beneficial association with survival shown by the multivariate Cox regression analysis (p = 0.025). Conclusion: Although this retrospective study is subject to possible biases, several analyses adjusting for numerous prognostic

  7. Viroids: how to infect a host and cause disease without encoding proteins.

    Navarro, Beatriz; Gisel, Andreas; Rodio, Maria-Elena; Delgado, Sonia; Flores, Ricardo; Di Serio, Francesco

    2012-07-01

    Despite being composed by a single-stranded, circular, non-protein-coding RNA of just 246-401 nucleotides (nt), viroids can incite in their host plants symptoms similar to those caused by DNA and RNA viruses, which have genomes at least 20-fold bigger and encode proteins. On the other hand, certain non-protein-coding plant satellite RNAs display structural similarities with viroids but for replication and transmission they need to parasitize specific helper viruses (modifying concomitantly the symptoms they induce). While phenotypic alterations accompanying infection by viruses may partly result from expressing the proteins they code for, how the non-protein-coding viroids (and satellite RNAs) cause disease remains a conundrum. Initial ideas on viroid pathogenesis focused on a direct interaction of the genomic RNA with host proteins resulting in their malfunction. With the advent of RNA silencing, it was alternatively proposed that symptoms could be produced by viroid-derived small RNAs (vd-sRNAs) -generated by the host defensive machinery- targeting specific host mRNA or DNA sequences for post-transcriptional or transcriptional gene silencing, respectively, a hypothesis that could also explain pathogenesis of non-protein-coding satellite RNAs. Evidence sustaining this view has been circumstantial, but recent data provide support for it in two cases: i) the yellow symptoms associated with a specific satellite RNA result from a 22-nt small RNA (derived from the 24-nt fragment of the satellite genome harboring the pathogenic determinant), which is complementary to a segment of the mRNA of the chlorophyll biosynthetic gene CHLI and targets it for cleavage by the RNA silencing machinery, and ii) two 21-nt vd-sRNAS containing the pathogenic determinant of the albino phenotype induced by a chloroplast-replicating viroid target for cleavage the mRNA coding for the chloroplastic heat-shock protein 90 via RNA silencing too. This evidence, which is compelling for the

  8. [Analysis of main risk factors causing foodborne diseases in food catering business].

    Fan, Yong-xiang; Liu, Xiu-mei; Bao, Yi-dan

    2011-06-01

    To study main risk factors that cause foodborne diseases in food catering business. Data from references and investigations conducted in food catering units were used to establish models which based on @Risk 4.5 with Monte Carlo method referring to food handling practice model (FHPM) to make risk assessment on factors of food contamination in food catering units. The Beta-Poisson models on dose-response relationship to Salmonella (developed by WHO/FAO and United States Department of Agriculture) and Vibrio parahaemolyticus (developed by US FDA) were used in this article to analyze the dose-response relationship of pathogens. The average probability of food poisoning by consuming Salmonella contaminated cooked meat under refrigeration was 1.96 × 10(-4) which was 1/2800 of the food under non-refrigeration (the average probability of food poisoning was 0.35 at room temperature 25°C). The average probability by consuming 6 hours stored meat under room temperature was 0.11 which was 16 times of 2 hours storage (6.79 × 10(-3)). The average probability by consuming contaminated meat without fully cooking was 1.71 × 10(-4) which was 100 times of consuming fully cooked meat (1.88 × 10(-6)). The probability growth of food poisoning by consuming Vibrio parahaemolyticus contaminated fresh seafood was proportional with contamination level and prevalence. The primary contamination level, storage temperature and time, cooking process and cross contamination are important factors of catering food safety.

  9. Molecular methods as tools to control plant diseases caused by Dickeya and Pectobacterium spp: A minireview.

    Motyka, Agata; Zoledowska, Sabina; Sledz, Wojciech; Lojkowska, Ewa

    2017-10-25

    Dickeya spp. and Pectobacterium spp. are etiological agents of soft rot on crops, vegetables, and ornamentals. They also cause blackleg on potato. These pectinolytic phytopathogens are responsible for significant economic losses, mostly within the potato production sector. Importantly, there are no methods to eradicate these microorganisms once they have infected plant material. Solely preventive measures remain, including early detection and identification of the pathogens, monitoring of their spread in addition to planting certified seed material tested for latent infections. As proper identification of the causative agent allows for efficient limitation of disease spread, numerous detection and differentiation methods have been developed. Most commonly followed procedures involve: isolation of viable bacterial cells (alternatively post-enrichment) on semi-selective media, identification to species level by PCR (single, multiplex, Real time), serology or fatty acids profiling. Differentiation of the isolates is often accomplished by sequencing the housekeeping genes or molecular fingerprinting. In view of lowering total costs of next-generation sequencing (NGS), a huge amount of generated data reveals subtle differences between strains that have proven to be potentially useful for the establishment of specific novel detection pipelines. Successful implementation of molecular diagnostic methods is exemplified by 20-year studies on the populations of pectinolytic bacteria on potatoes in Poland. The presented work aims to gather the characteristics of Dickeya spp. and Pectobacterium spp. important for the identification process in addition to providing an overview of modern and newly developed specific, rapid, high-throughput and cost-effective screening methods for the detection and identification of these phytopathogens. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. EFFECTS OF PROTON PUMP INHIBITORS ON DENTAL EROSIONS CAUSED BY GASTROESOPHAGEAL REFLUX DISEASE

    Andrei Vasile OLTEANU

    2015-12-01

    Full Text Available Background: Numerous studies worldwide have assessed the association between dental erosions or other related oral manifestations, and the gastroesophageal reflux disease (GERD. Nowadays, one of the main therapeutic resources of GERD is represented by proton pump inhibitors (PPIs. Adequate salivary secretions and flow are considered mandatory for the protection of both teeth and esophageal mucosa. The aim of the present study was to evaluate the possible correlation between GERD treatment options and subsequent control of oral manifestation, taking as premises that either PPIs or dietary and lifestyle changes may control oral patterns of GERD by acting on salivary secretions. Methods: 48 clinically diagnosed GERD adult patients with oral manifestations, mainly erosions, were included in the study, none of which showing alarming symptoms that would require further gastroenterologic examination. Oral examination evaluated the DMF (decayed, missing, filled and OHI-S (Simplified Oral Hygiene indices. Salivary flow was evaluated by the Saxon test. 25 patients were prescribed dietary and lifestyle measures and PPIs (omeprazole – 20 mg, whereas 23 patients were managed only through dietary and lifestyle modifications. General assessment was performed at the time of diagnosis and 4 weeks afterwards. Results: No significant differences as to the DMF index, OHI-S index or Saxon test were found over the 4 weeks management between the groups. Conclusions: Oral manifestation of GERD may be caused by impaired salivary secretions and flow, otherwise no - positive or negative - effect could be secondary to PPI therapy. Accordingly, complex oral rehabilitation of GERD patients and collaboration between gastroenterologists and dentists should be promoted.

  11. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Lal, Dennis; Reinthaler, Eva M; Dejanovic, Borislav; May, Patrick; Thiele, Holger; Lehesjoki, Anna-Elina; Schwarz, Günter; Riesch, Erik; Ikram, M Arfan; van Duijn, Cornelia M; Uitterlinden, Andre G; Hofman, Albert; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Neophytou, Birgit; Zara, Federico; Hahn, Andreas; Gormley, Padhraig; Becker, Felicitas; Weber, Yvonne G; Cilio, Maria Roberta; Kunz, Wolfram S; Krause, Roland; Zimprich, Fritz; Lemke, Johannes R; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd A

    2016-01-01

    The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%). Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1) are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

  12. Properties of a virus causing mosaic and leaf curl disease of Celosia argentea L. in Nigeria.

    Owolabi, T A; Taiwo, M A; Thottappilly, G A; Shoyinka, S A; Proll, E; Rabenstein, F

    1998-06-01

    A sap transmissible virus, causing mosaic and leaf curl disease of Celosia argentea, was isolated at vegetable farms in Amuwo Odofin, Tejuoso, and Abule Ado, Lagos, Nigeria. The virus had a restricted host range confined to a few species of the Amaranthaceae, Chenopodiaceae and Solanaceae families. It failed to infect several other species of the Aizoaceae, Brassicaceae, Cucurbitaceae, Fabaceae, Lamiaceae, Malvaceae, Poaceae and Tiliaceae families. The virus was transmitted in a non-persistent manner by Aphis spiraecola and Toxoptera citricidus but not by eight other aphid species tested. There was no evidence of transmission by seeds of C. argentae varieties. The viral coat protein had a relative molecular mass (M(r)) of about 30.2 K. Electron microscopy of purified virus preparations revealed flexuous rod shaped particles of about 750 nm in length. Serological studies were performed using the enzyme-linked immunosorbent assay (ELISA), immunosorbent electron microscopy (ISEM) and Western blot analysis. The virus reacted positively with an universal potyvirus group monoclonal antibody (MoAb) and MoAb P-3-3H8 raised against peanut stripe potyvirus. It also reacted with polyclonal antibodies raised against several potyviruses including asparagus virus-1 (AV-1), turnip mosaic virus (TuMV), maize dwarf mosaic virus (MDMV), watermelon mosaic virus (WMV-2), plum pox virus (PPV), soybean mosaic virus (SoyMV), lettuce mosaic virus (LMV), bean common mosaic virus (BCMV) and beet mosaic virus (BMV) in at least one of the serological assays used. On the basis of host range, mode of transmission, and available literature data, the celosia virus seems to be different from potyviruses previously reported to infect vegetables in Nigeria. The name celosia mosaic virus (CIMV) has been proposed for this virus.

  13. Principal disease or cause of death in nonsacrifice Segment III beagles receiving gamma radiation during development

    Hargis, A.M.; Lovering, S.L.; Benjamin, S.A.; Thomassen, R.W.; Lee, A.C.; Brewster, R.D.; Brooks, R.K.

    1979-01-01

    Epilepsy, hypothyroidism, neoplasia, and cor pulmonale remain the leading causes of death in Segment III beagles. This past year neoplasia became the third leading cause of death with the addition of 10 animals in this category. Of the four leading causes of death, neoplasia alone can be related to history of irradiation

  14. Parasitic diseases as the cause of death of prisoners of war during the Korean War (1950-1953).

    Huh, Sun

    2014-06-01

    To determine the cause of death of prisoners of war during the Korean War (1950-1953), death certificates or medical records were analyzed. Out of 7,614 deaths, 5,013 (65.8%) were due to infectious diseases. Although dysentery and tuberculosis were the most common infectious diseases, parasitic diseases had caused 14 deaths: paragonimiasis in 5, malaria in 3, amoebiasis in 2, intestinal parasitosis in 2, ascariasis in 1, and schistosomiasis in 1. These results showed that paragonimiasis, malaria, and amoebiasis were the most fatal parasitic diseases during the early 1950s in the Korean Peninsula. Since schistosomiasis is not endemic to Korea, it is likely that the infected private soldier moved from China or Japan to Korea.

  15. Hamster-Adapted Sin Nombre Virus Causes Disseminated Infection and Efficiently Replicates in Pulmonary Endothelial Cells without Signs of Disease

    Safronetz, David; Prescott, Joseph; Haddock, Elaine; Scott, Dana P.; Feldmann, Heinz; Ebihara, Hideki

    2013-01-01

    To date, a laboratory animal model for the study of Sin Nombre virus (SNV) infection or associated disease has not been described. Unlike infection with Andes virus, which causes lethal hantavirus pulmonary syndrome (HPS)-like disease in hamsters, SNV infection is short-lived, with no viremia and little dissemination. Here we investigated the effect of passaging SNV in hamsters. We found that a host-adapted SNV achieves prolonged and disseminated infection in hamsters, including efficient rep...

  16. Direct restorative treatment of dental erosion caused by gastroesophageal reflux disease associated with bruxism: a case report

    Vidal, Cristina de Mattos Pimenta [UNESP; Catelan, Anderson [UNESP; Briso, André Luiz Fraga [UNESP; Santos, Paulo Henrique dos [UNESP

    2011-01-01

    Gastroesophageal reflux disease (GERD) is a gastrointestinal disorder in which stomach acids are chronically regurgitated into the esophagus and oral cavity. Continual exposure of the teeth to these acids can cause severe tooth wear. Dentists are often the first healthcare professionals to diagnose dental erosion in patients with GERD. This article presents a case report of a 27-year-old male smoker with tooth wear and dentin sensitivity caused by GERD associated with bruxism. After diagnosis...

  17. Apple replant disease: role of microbial ecology in cause and control.

    Mazzola, Mark; Manici, Luisa M

    2012-01-01

    Replant disease of apple is common to all major apple growing regions of the world. Difficulties in defining disease etiology, which can be exacerbated by abiotic factors, have limited progress toward developing alternatives to soil fumigation for disease control. However, the preponderance of data derived from studies of orchard soil biology employing multidisciplinary approaches has defined a complex of pathogens/parasites as causal agents of the disease. Approaches to manipulate microbial resources endemic to the orchard soil system have been proposed to induce a state of general soil suppressiveness to replant disease. Such a long-term strategy may benefit the existing orchard through extending the period of economic viability and reduce overall disease pressure to which young trees are exposed during establishment of successive plantings on the site. Alternatively, more near-term methods have been devised to achieve specific quantitative and qualitative changes in soil biology during the period of orchard renovation that may lead to effective disease suppression.

  18. Potential for Low-Pathogenic Avian H7 Influenza A Viruses To Replicate and Cause Disease in a Mammalian Model

    Zanin, Mark; Koçer, Zeynep A.; Poulson, Rebecca L.; Gabbard, Jon D.; Howerth, Elizabeth W.; Jones, Cheryl A.; Friedman, Kimberly; Seiler, Jon; Danner, Angela; Kercher, Lisa; McBride, Ryan; Paulson, James C.; Wentworth, David E.; Krauss, Scott; Tompkins, Stephen M.; Stallknecht, David E.

    2016-01-01

    ABSTRACT H7 subtype influenza A viruses are widely distributed and have been responsible for human infections and numerous outbreaks in poultry with significant impact. Despite this, the disease-causing potential of the precursor low-pathogenic (LP) H7 viruses from the wild bird reservoir has not been investigated. Our objective was to assess the disease-causing potential of 30 LP H7 viruses isolated from wild avian species in the United States and Canada using the DBA/2J mouse model. Without prior mammalian adaptation, the majority of viruses, 27 (90%), caused mortality in mice. Of these, 17 (56.7%) caused 100% mortality and 24 were of pathogenicity similar to that of A/Anhui/1/2013 (H7N9), which is highly pathogenic in mice. Viruses of duck origin were more pathogenic than those of shorebird origin, as 13 of 18 (72.2%) duck origin viruses caused 100% mortality while 4 of 12 (33.3%) shorebird origin viruses caused 100% mortality, despite there being no difference in mean lung viral titers between the groups. Replication beyond the respiratory tract was also evident, particularly in the heart and brain. Of the 16 viruses studied for fecal shedding, 11 were detected in fecal samples. These viruses exhibited a strong preference for avian-type α2,3-linked sialic acids; however, binding to mammalian-type α2,6-linked sialic acids was also detected. These findings indicate that LP avian H7 influenza A viruses are able to infect and cause disease in mammals without prior adaptation and therefore pose a potential public health risk. IMPORTANCE Low-pathogenic (LP) avian H7 influenza A viruses are widely distributed in the avian reservoir and are the precursors of numerous outbreaks of highly pathogenic avian influenza viruses in commercial poultry farms. However, unlike highly pathogenic H7 viruses, the disease-causing potential of LP H7 viruses from the wild bird reservoir has not been investigated. To address this, we studied 30 LP avian H7 viruses isolated from wild

  19. Meat Intake and the Dose of Vitamin B – Nicotinamide: Cause of the Causes of Disease Transitions, Health Divides, and Health Futures?

    Lisa J Hill

    2017-05-01

    Full Text Available Meat and vitamin B 3 – nicotinamide – intake was high during hunter-gatherer times. Intake then fell and variances increased during and after the Neolithic agricultural revolution. Health, height, and IQ deteriorated. Low dietary doses are buffered by ‘welcoming’ gut symbionts and tuberculosis that can supply nicotinamide, but this co-evolved homeostatic metagenomic strategy risks dysbioses and impaired resistance to pathogens. Vitamin B 3 deficiency may now be common among the poor billions on a low-meat diet. Disease transitions to non-communicable inflammatory disorders (but longer lives may be driven by positive ‘meat transitions’. High doses of nicotinamide lead to reduced regulatory T cells and immune intolerance. Loss of no longer needed symbiotic ‘old friends’ compounds immunological over-reactivity to cause allergic and auto-immune diseases. Inhibition of nicotinamide adenine dinucleotide consumers and loss of methyl groups or production of toxins may cause cancers, metabolic toxicity, or neurodegeneration. An optimal dosage of vitamin B 3 could lead to better health, but such a preventive approach needs more equitable meat distribution. Some people may require personalised doses depending on genetic make-up or, temporarily, when under stress.

  20. Population Causes and Consequences of Leading Chronic Diseases: A Comparative Analysis of Prevailing Explanations

    Stuckler, David

    2008-01-01

    Context The mortality numbers and rates of chronic disease are rising faster in developing than in developed countries. This article compares prevailing explanations of population chronic disease trends with theoretical and empirical models of population chronic disease epidemiology and assesses some economic consequences of the growth of chronic diseases in developing countries based on the experiences of developed countries. Methods Four decades of male mortality rates of cardiovascular and chronic noncommunicable diseases were regressed on changes in and levels of country income per capita, market integration, foreign direct investment, urbanization rates, and population aging in fifty-six countries for which comparative data were available. Neoclassical economic growth models were used to estimate the effect of the mortality rates of chronic noncommunicable diseases on economic growth in high-income OECD countries. Findings Processes of economic growth, market integration, foreign direct investment, and urbanization were significant determinants of long-term changes in mortality rates of heart disease and chronic noncommunicable disease, and the observed relationships with these social and economic factors were roughly three times stronger than the relationships with the population's aging. In low-income countries, higher levels of country income per capita, population urbanization, foreign direct investment, and market integration were associated with greater mortality rates of heart disease and chronic noncommunicable disease, less increased or sometimes reduced rates in middle-income countries, and decreased rates in high-income countries. Each 10 percent increase in the working-age mortality rates of chronic noncommunicable disease decreased economic growth rates by close to a half percent. Conclusions Macrosocial and macroeconomic forces are major determinants of population rises in chronic disease mortality, and some prevailing demographic explanations

  1. Population causes and consequences of leading chronic diseases: a comparative analysis of prevailing explanations.

    Stuckler, David

    2008-06-01

    The mortality numbers and rates of chronic disease are rising faster in developing than in developed countries. This article compares prevailing explanations of population chronic disease trends with theoretical and empirical models of population chronic disease epidemiology and assesses some economic consequences of the growth of chronic diseases in developing countries based on the experiences of developed countries. Four decades of male mortality rates of cardiovascular and chronic noncommunicable diseases were regressed on changes in and levels of country income per capita, market integration, foreign direct investment, urbanization rates, and population aging in fifty-six countries for which comparative data were available. Neoclassical economic growth models were used to estimate the effect of the mortality rates of chronic noncommunicable diseases on economic growth in high-income OECD countries. Processes of economic growth, market integration, foreign direct investment, and urbanization were significant determinants of long-term changes in mortality rates of heart disease and chronic noncommunicable disease, and the observed relationships with these social and economic factors were roughly three times stronger than the relationships with the population's aging. In low-income countries, higher levels of country income per capita, population urbanization, foreign direct investment, and market integration were associated with greater mortality rates of heart disease and chronic noncommunicable disease, less increased or sometimes reduced rates in middle-income countries, and decreased rates in high-income countries. Each 10 percent increase in the working-age mortality rates of chronic noncommunicable disease decreased economic growth rates by close to a half percent. Macrosocial and macroeconomic forces are major determinants of population rises in chronic disease mortality, and some prevailing demographic explanations, such as population aging, are

  2. The new French 2010 Rabbit Hemorrhagic Disease Virus causes an RHD-like disease in the Sardinian Cape hare (Lepus capensis mediterraneus)

    Puggioni, Giantonella; Cavadini, Patrizia; Maestrale, Caterina; Scivoli, Rosario; Botti, Giuliana; Ligios, Ciriaco; Le Gall-Recul?, Ghislaine; Lavazza, Antonio; Capucci, Lorenzo

    2013-01-01

    Lagovirus is an emerging genus of Caliciviridae, which includes the Rabbit Hemorrhagic Disease Virus (RHDV) of rabbits and the European brown hare syndrome virus (EBHSV) of hares that cause lethal hepatitis. In 2010, a new RHDV related virus (RHDV2) with a unique genetic and antigenic profile and lower virulence was identified in France in rabbits. Here we report the identification of RHDV2 as the cause in Sardinia of several outbreaks of acute hepatitis in rabbits and Cape hare (Lepus capens...

  3. Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.

    2015-01-10

    Up-to-date evidence on levels and trends for age-sex-specific all-cause and cause-specific mortality is essential for the formation of global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013) we estimated yearly deaths for 188 countries between 1990, and 2013. We used the results to assess whether there is epidemiological convergence across countries. We estimated age-sex-specific all-cause mortality using the GBD 2010 methods with some refinements to improve accuracy applied to an updated database of vital registration, survey, and census data. We generally estimated cause of death as in the GBD 2010. Key improvements included the addition of more recent vital registration data for 72 countries, an updated verbal autopsy literature review, two new and detailed data systems for China, and more detail for Mexico, UK, Turkey, and Russia. We improved statistical models for garbage code redistribution. We used six different modelling strategies across the 240 causes; cause of death ensemble modelling (CODEm) was the dominant strategy for causes with sufficient information. Trends for Alzheimer's disease and other dementias were informed by meta-regression of prevalence studies. For pathogen-specific causes of diarrhoea and lower respiratory infections we used a counterfactual approach. We computed two measures of convergence (inequality) across countries: the average relative difference across all pairs of countries (Gini coefficient) and the average absolute difference across countries. To summarise broad findings, we used multiple decrement life-tables to decompose probabilities of death from birth to exact age 15 years, from exact age 15 years to exact age 50 years, and from exact age 50 years to exact age 75 years, and life expectancy at birth into major causes. For all quantities reported, we computed 95% uncertainty intervals (UIs). We constrained cause-specific fractions within each age-sex-country-year group to sum

  4. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

    Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

    2018-01-01

    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

  5. Molecular, biochemical, and morphometric characterization of Fasciola species potentially causing zoonotic disease in Egypt.

    El-Rahimy, Hoda H; Mahgoub, Abeer M A; El-Gebaly, Naglaa Saad M; Mousa, Wahid M A; Antably, Abeer S A E

    2012-09-01

    Fascioliasis is an important disease caused by Fasciola hepatica and Fasciola gigantica. The distributions of both species overlap in many areas of Asia and Africa including Egypt. Fifty adult Fasciola worms were collected from livers of cattle and sheep slaughtered in abattoirs, Cairo, Egypt. They were subjected to morphological and metric assessment of external features of fresh adults, morphological and metric assessment of internal anatomy of stained mounted worms, determination of electrophorezed bands of crude adult homogenates using SDS-PAGE, and molecular characterization of species-specific DNA segments using RFLP-PCR. It was found that the correlation between conventional morphology and its morphotype was statistically significant (P value = 0.00). Using SDS-PAGE, 13 bands were detected among both genotypes of Fasciola (35.7, 33.6, 32.4, 29.3, 27.5, 26, 24.4, 23, 21.45, 19, 16.75, 12.5, and 9.1 kDa).The most prevalent bands were that with a molecular weight of 29.3, 26, and 19 kDa. Bands detected were common for both species, but protein bands could not distinguish between F. hepatica and F. gigantica. The result of PCR for the amplification of the selected 28S rDNA fragment with the designed primer set yielded 618 bp long PCR products for F. hepatica and F. gigantica. Different band patterns generated after digestion of the 618 bp segment by the enzyme AvaII obtained with F. hepatica showed segments of the length 529, 62, 27 bp, while with F. gigantica 322, 269, 27 bp bands were obtained. Genotyping revealed no equivocal results. The conventional morphological parameters for species determination of Fasciola spp. endemic in Egypt were evaluated versus protein bands characterization and genotyping. It was concluded that conventional morphological and metric assessments were not useful for differentiation between F. gigantica and F. hepatica due to extensive overlap in the relative ranges. Similar conclusion was reached concerning protein band

  6. Is insufficient pulmonary air support the cause of dysphonia in chronic obstructive pulmonary disease?

    Hassan, Megahed M; Hussein, Mona T; Emam, Ahmed Mamdouh; Rashad, Usama M; Rezk, Ibrahim; Awad, Al Hussein

    2018-08-01

    Optimal pulmonary air support is essential pre-requisite for efficient phonation. The objective is to correlate pulmonary and vocal functions in chronic obstructive pulmonary disease (COPD) to find out whether the reduced pulmonary function per se could induce dysphonia. In this prospective case-control study, sixty subjects with stable COPD underwent evaluation of pulmonary and vocal functions. The pulmonary functions measured include {Forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), FEV1/FVC ratio, peak expiratory flow (PEF), maximum mid-expiratory flow (MMEF)}. The vocal functions were {jitter, shimmer, noise-to-harmonic ratio, pitch perturbation quotient, amplitude perturbation quotient, maximum phonation time (MPT), sound pressure level, phonatory efficiency, resistance and power. A control group (n=35) underwent the same measurements. These functions were compared between subjects and controls. Also, correlation of the vocal and pulmonary functions was conducted. Thirty five (58.3%) of COPD subjects have dysphonia. The pulmonary functions were lower in all COPD group than in the control group (P<0.001 for all parameters). Also, the FVC, FEV1, PEF and MMEF % of predicted values were significantly lower in subjects with dysphonia (n=35) than those without dysphonia (n=25) with P values 0.0018, <0.001, 0.0011 and 0.0026 respectively. In addition, the MPT in all subjects showed positive correlations to the 5 pulmonary functions (P=0.004 for FEV1/FVC ratio and P<0.001 for the rest). Also, the phonatory efficiency showed significant positive correlations with the pulmonary functions FVC, FEV1, PEF and MMEF (P=0.001, 0.001, 0.002 and 0.001 respectively). Unlike efficiency, the phonatory resistance revealed significant negative correlations with these pulmonary functions in the same order (P=0.001, 0.003, 0.002, 0.001 respectively). Dysphonia is a common comorbidity with COPD which attributed to multifactorial etiologies. The lower

  7. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Dennis Lal

    Full Text Available The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic.We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients.We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%. Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1 are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test, previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

  8. Role of inflammatory marker YKL-40 in the diagnosis, prognosis and cause of cardiovascular and liver diseases

    Kjaergaard, A.D.; Johansen, Julia Sidenius; Bojesen, Stig Egil

    2016-01-01

    This review summarizes present evidence for the role of YKL-40 in the diagnosis, prognosis and cause of cardiovascular and alcoholic liver disease. The question of whether YKL-40 is merely a marker or a causal factor in the development of cardiovascular and liver disease is addressed, with emphasis...... of cardiovascular and alcoholic liver disease, thus suggesting that plasma YKL-40 does not play a causal role in the development of these diseases. Despite this, plasma YKL-40 levels may play a role in disease progression after diagnosis, and inhibition of YKL-40 activity might be a novel therapy in some...... rather than a drug and placebo, and like a blinded trial, it allows inference about causality. Moreover, the review also covers background on the molecular biology and functions of YKL-40, YKL-40 levels in healthy individuals and reference range, and the role of YKL-40 as a biomarker of cardiovascular...

  9. The new French 2010 Rabbit Hemorrhagic Disease Virus causes an RHD-like disease in the Sardinian Cape hare (Lepus capensis mediterraneus).

    Puggioni, Giantonella; Cavadini, Patrizia; Maestrale, Caterina; Scivoli, Rosario; Botti, Giuliana; Ligios, Ciriaco; Le Gall-Reculé, Ghislaine; Lavazza, Antonio; Capucci, Lorenzo

    2013-10-07

    Lagovirus is an emerging genus of Caliciviridae, which includes the Rabbit Hemorrhagic Disease Virus (RHDV) of rabbits and the European brown hare syndrome virus (EBHSV) of hares that cause lethal hepatitis. In 2010, a new RHDV related virus (RHDV2) with a unique genetic and antigenic profile and lower virulence was identified in France in rabbits. Here we report the identification of RHDV2 as the cause in Sardinia of several outbreaks of acute hepatitis in rabbits and Cape hare (Lepus capensis mediterraneus). This is the first account of a lagovirus that causes fatal hepatitis in both rabbits and hares.

  10. Search for microorganisms which can disrupt communication between plant pathogenic bacteria causing hairy roots disease in greenhouse vegetables

    Streminska, M.A.; Stijger, I.

    2016-01-01

    Hairy roots disease is an important problem in cultivation of greenhouse vegetables (tomato, aubergine and cucumber). Infection is caused by rhizogenic bacteria from Agrobacterium/Rhizobium group. It has been shown that infection process is regulated by environmental factors and quorum sensing

  11. A prospective study of low fasting glucose with cardiovascular disease events and all-cause mortality: The Women's Health Initiative.

    Mongraw-Chaffin, Morgana; LaCroix, Andrea Z; Sears, Dorothy D; Garcia, Lorena; Phillips, Lawrence S; Salmoirago-Blotcher, Elena; Zaslavsky, Oleg; Anderson, Cheryl A M

    2017-05-01

    While there is increasing recognition of the risks associated with hypoglycemia in patients with diabetes, few studies have investigated incident cause-specific cardiovascular outcomes with regard to low fasting glucose in the general population. We hypothesized that low fasting glucose would be associated with cardiovascular disease risk and all-cause mortality in postmenopausal women. To test our hypothesis, we used both continuous incidence rates and Cox proportional hazards models in 17,287 participants from the Women's Health Initiative with fasting glucose measured at baseline. Participants were separated into groups based on fasting glucose level: low (fasting glucose distribution exhibited evidence of a weak J-shaped association with heart failure and mortality that was predominantly due to participants with treated diabetes. Impaired and diabetic fasting glucose were positively associated with all outcomes. Associations for low fasting glucose differed, with coronary heart disease (HR=0.64 (0.42, 0.98)) significantly inverse; stroke (0.73 (0.48, 1.13)), combined cardiovascular disease (0.91 (0.73, 1.14)), and all-cause mortality (0.97 (0.79, 1.20)) null or inverse and not significant; and heart failure (1.27 (0.80, 2.02)) positive and not significant. Fasting glucose at the upper range, but not the lower range, was significantly associated with incident cardiovascular disease and all-cause mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing

    Xiao, Jianping; Guo, Xueqin; Wang, Yong

    2017-01-01

    Purpose: To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP). Methods: A detailed clinical examination was performed on the proband. Targeted next-generation sequencing (NGS) combined with bioinformatics analysis was performed on the proband to detect candidate...

  13. Biological control of Black Pod Disease and Seedling Blight of cacao caused by Phytophthora Species using Trichoderma from Aceh Sumatra

    The cocoa tree, Theobroma cacao L., suffers large yield losses in Aceh Indonesia to the disease black pod rot, caused by Phytophthora spp. Despite having the largest area under cacao production in Sumatra, farmers in the Aceh region have low overall production because of losses to insect pests and b...

  14. PROGRESSION OF DISEASES CAUSED BY THE OYSTER PARASITES, PERKINSUS MARINUS AND HAPLOSPORIDIUM NELSONI, IN CRASSOSTREA VIRGINICA ON CONSTRUCTED INTERTIDAL REEFS

    The progression of diseases caused by the oyster parasites, Perkinsus marinus and Haplosporidium nelsoni, were evaluated by periodic sampling (May 1994-Dec. 1995) of oysters, Crassostrea virginica, that set on an artificial reef located in the Piankatank River, Virginia, in Augus...

  15. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

    Tarailo-Graovac, M. (Maja); Drögemöller, B.I. (Britt I.); Wasserman, W.W. (Wyeth W.); C.J. Ross; A.M.W. van den Ouweland (Ans); N. Darin (Niklas); Kollberg, G. (Gittan); Van Karnebeek, C.D.M. (Clara D. M.); Blomqvist, M. (Maria)

    2017-01-01

    textabstractBackground: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most

  16. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene

    Andresen, B S; Jensen, T G; Bross, P

    1994-01-01

    spot. Here we describe the results from sequence analysis of exon 11 and part of the flanking introns from 36 compound heterozygous patients with MCAD deficiency. We have identified four previously unknown disease-causing mutations (M301T, S311R, R324X, and E359X) and two silent mutations in exon 11...

  17. Plasma YKL-40 and all-cause mortality in patients with chronic obstructive pulmonary disease

    Holmgaard, Dennis Back; Mygind, Lone; Titlestad, Ingrid Louise

    2013-01-01

    Chronic obstructive pulmonary disease (COPD) is hallmarked by inflammatory processes and a progressive decline of lung function. YKL-40 is a potential biomarker of inflammation and mortality in patients suffering from inflammatory lung disease, but its prognostic value in patients with COPD remains...... unknown. We investigated whether high plasma YKL-40 was associated with increased mortality in patients with moderate to very severe COPD....

  18. First report of Armillaria root disease caused by Armillaria tabescens on Araucaria araucana in Veracruz, Mexico

    M.-S. Kim; N. B. Klopfenstein; J. W. Hanna; P. Cannon; R. Medel; A. Lopez

    2010-01-01

    In September 2007, bark samples were collected from the root collar of a single Araucaria araucana tree that had recently died and was suspected of being killed by Armillaria root disease. Disease symptoms and signs included a thinning crown and fruiting bodies at the tree base over a several-year period before tree death.

  19. Fusarium oxysporum protects Douglas-fir (Pseudotsuga menziesii) seedlings from root disease caused by Fusarium commune

    R. Kasten Dumroese; Mee-Sook Kim; Robert L. James

    2012-01-01

    Fusarium root disease can be a serious problem in forest and conservation nurseries in the western United States. Fusarium inoculum is commonly found in most container and bareroot nurseries on healthy and diseased seedlings, in nursery soils, and on conifer seeds. Fusarium spp. within the F. oxysporum species complex have been recognized as pathogens for more than a...

  20. Bighorn sheep pneumonia: Sorting out the cause of a polymicrobial disease

    Pneumonia of bighorn sheep (Ovis canadensis) is a dramatic disease of high morbidity and mortality first described more than 80 years ago. The etiology of the disease has been debated since its initial discovery, and at various times lungworms, Mannheimia haemolytica and other Pasteurellaceae, and M...

  1. Cardiac symptoms before sudden cardiac death caused by coronary artery disease

    Jabbari, Reza; Risgaard, Bjarke; Holst, Anders G

    2013-01-01

    The aim of this nationwide case-control study was to identify and characterise symptoms before sudden death of young persons who had died due to coronary artery disease (CAD).......The aim of this nationwide case-control study was to identify and characterise symptoms before sudden death of young persons who had died due to coronary artery disease (CAD)....

  2. Quantification of peptides causing celiac disease in historical and modern hard red spring wheat cultivars

    Celiac disease (CD) is prevalent in 0.5 to 1.26% of adolescents and adults. The disease develops in genetically susceptible individuals as a result of ingestion of gluten forming proteins found in cereals such as, wheat (Triticum aestivum L.), rye (Secale cereale L.) and barley (Hordeum sativum L.)...

  3. Causes of, and Therapeutic Approaches for, Proton Pump Inhibitor-Resistant Gastroesophageal Reflux Disease in Asia

    Kinoshita, Yoshikazu; Ishihara, Shunji

    2008-01-01

    Proton pump inhibitors (PPIs) are the most widely used drugs for treatment of gastroesophageal reflux disease. However, approximately 20% of patients with reflux esophagitis and 40% of those with nonerosive reflux diseases complain of troublesome symptoms, even during treatment with PPIs. In patients with reflux esophagitis, dose escalation and co-administration with a histamine ...

  4. Gordon Wilson Lecture: Infectious Disease Causes of Cancer: Opportunities for Prevention and Treatment.

    Howley, Peter M

    2015-01-01

    The role of infectious agents in cancer is generally underappreciated. However, approximately 20% of human cancers are caused by infectious agents and as such they rank second only to tobacco as a potentially preventable cause in humans. Specific viruses, parasites, and bacteria have been linked to specific human cancers. The infectious etiology for these specific cancers provides opportunities for prevention and treatment.

  5. Lack of Neuronal IFN-β-IFNAR Causes Lewy Body- and Parkinson's Disease-like Dementia

    Ejlerskov, Patrick; Hultberg, Jeanette Göransdotter; Wang, JunYang

    2015-01-01

    -causing mutant proteins. Mice lacking Ifnb function exhibited motor and cognitive learning impairments with accompanying α-synuclein-containing Lewy bodies in the brain, as well as a reduction in dopaminergic neurons and defective dopamine signaling in the nigrostriatal region. Lack of IFN-β signaling caused...

  6. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

    Pennings, R J E; Kremer, H; Deutman, A F; Kimberling, W J; Cremers, C W R J

    2002-12-07

    Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have their own genetic subtypes (Usher 1A-Usher IG, Usher 2A-Usher 2C and Usher 3). The majority of the Usher type I cases are caused by mutations in the MYO7A gene (Usher 1B) while mutations in the USH2A gene (Usher 2A) are the cause of most cases of type II. Usher syndrome type III, caused by mutations in the USH3 gene, is frequently seen only in Finland.

  7. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

    Roberto Rozenberg

    Full Text Available CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70% elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

  8. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

    Rozenberg, R; Pereira, L da V

    2001-07-05

    Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. Laboratory of Molecular Genetics--Institute of Biosciences--Universidade de São Paulo. 581 senior students from selected Jewish high schools. Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

  9. Changes in causes of death and risk of cancer in Danish patients with autosomal dominant polycystic kidney disease and end-stage renal disease.

    Orskov, Bjarne; Sørensen, Vibeke Rømming; Feldt-Rasmussen, Bo; Strandgaard, Svend

    2012-04-01

    With the improved prognosis in patients with autosomal dominant polycystic kidney disease (ADPKD), causes of death and the risk of cancer might have changed. This was investigated in a Danish population with ADPKD and end-stage renal disease (ESRD) between 1 January 1993 and 31 December 2008. Data were retrieved from three Danish national registries and a total of 823 patients were identified of which 431 had died during the study period. The 16 years were divided into two 8-year periods and the causes of death were divided into six categories: cancer, cardiovascular, cerebrovascular, infection, other and unknown. Cardiovascular disease was the major cause of death. A multivariate competing risk model comparing the two 8-year periods, adjusted for age at ESRD, gender and treatment modality, showed that deaths from cardiovascular disease decreased by 35% [hazard ratios (HR) 0.65, P=0.008] and deaths from cerebrovascular disease decreased by 69% (HR 0.31, P=0.0003) from the first to the second time period. There were no significant changes between the time periods in death from cancer, infection, other or unknown. From the first to the second 8-year interval, the prevalence of cancer increased by 35% (P=0.0002) while the cancer incidence was stable. In Danish patients with ADPKD and ESRD, there was a significant reduction in cardiovascular and cerebrovascular deaths from 1993 to 2008. The prevalence of cancer increased without significant change in cancer incidence or deaths from cancer.

  10. Basal Root Rot, a new Disease of Teak (Tectona grandis in Malaysia caused by Phellinus noxius

    Mohd Farid, A.

    2005-01-01

    Full Text Available Basal root rot of teak was first reported from Sabak Bernam, Selangor making this the first report of the disease on teak in Peninsular Malaysia. The fungus found associated with the disease was Phellinus noxious. The disease aggressively killed its host irrespective of the host health status. Bark depression at the root collar which was visible from a distance was the characteristic symptom and the main indicator in identifying the disease in the plantation since above ground symptoms of the canopy could not be differentiated from crowns of healthy trees. However, although above ground symptoms were not easily discernible, the disease was already advanced and the trees mostly beyond treatment; 3.4 % of the trees in the plantation were affected and the disease occurred both on solitary trees and in patches. Below ground, infected trees had rotted root systems, mainly below and around the collar region with brown discolored wood and irregular golden-brown honeycomb-like pockets of fungal hyphae in the wood. Pathogenicity tests showed that the fungus produced symptoms similar to those observed in the plantation and killed two year-old teak plants. The disease killed all the inoculated hosts within three months, irrespective of wounded or unwounded treatments.

  11. Transmission of chronic wasting disease identifies a prion strain causing cachexia and heart infection in hamsters.

    Richard A Bessen

    Full Text Available Chronic wasting disease (CWD is an emerging prion disease of free-ranging and captive cervids in North America. In this study we established a rodent model for CWD in Syrian golden hamsters that resemble key features of the disease in cervids including cachexia and infection of cardiac muscle. Following one to three serial passages of CWD from white-tailed deer into transgenic mice expressing the hamster prion protein gene, CWD was subsequently passaged into Syrian golden hamsters. In one passage line there were preclinical changes in locomotor activity and a loss of body mass prior to onset of subtle neurological symptoms around 340 days. The clinical symptoms included a prominent wasting disease, similar to cachexia, with a prolonged duration. Other features of CWD in hamsters that were similar to cervid CWD included the brain distribution of the disease-specific isoform of the prion protein, PrP(Sc, prion infection of the central and peripheral neuroendocrine system, and PrP(Sc deposition in cardiac muscle. There was also prominent PrP(Sc deposition in the nasal mucosa on the edge of the olfactory sensory epithelium with the lumen of the nasal airway that could have implications for CWD shedding into nasal secretions and disease transmission. Since the mechanism of wasting disease in prion diseases is unknown this hamster CWD model could provide a means to investigate the physiological basis of cachexia, which we propose is due to a prion-induced endocrinopathy. This prion disease phenotype has not been described in hamsters and we designate it as the 'wasting' or WST strain of hamster CWD.

  12. Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene.

    Backer, Julie De; Braverman, Alan C

    2018-05-01

    Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease. Mitral- and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the Fibrillin1 gene. Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St. Louis (US). We report on three cases from two families presenting end-stage heart failure (in two) and lethal arrhythmias associated with moderate left ventricular dilatation (in one). All three cases harbor a pathogenic variant in the SMAD3 gene, known to cause aneurysm osteoarthritis syndrome, Loeys-Dietz syndrome type 3 or isolated Heritable Thoracic Aortic Disease. These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  13. Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015.

    2016-10-08

    Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a comprehensive assessment of all-cause and cause-specific mortality for 249 causes in 195 countries and territories from 1980 to 2015. These results informed an in-depth investigation of observed and expected mortality patterns based on sociodemographic measures. We estimated all-cause mortality by age, sex, geography, and year using an improved analytical approach originally developed for GBD 2013 and GBD 2010. Improvements included refinements to the estimation of child and adult mortality and corresponding uncertainty, parameter selection for under-5 mortality synthesis by spatiotemporal Gaussian process regression, and sibling history data processing. We also expanded the database of vital registration, survey, and census data to 14 294 geography-year datapoints. For GBD 2015, eight causes, including Ebola virus disease, were added to the previous GBD cause list for mortality. We used six modelling approaches to assess cause-specific mortality, with the Cause of Death Ensemble Model (CODEm) generating estimates for most causes. We used a series of novel analyses to systematically quantify the drivers of trends in mortality across geographies. First, we assessed observed and expected levels and trends of cause-specific mortality as they relate to the Socio-demographic Index (SDI), a summary indicator derived from measures of income per capita, educational attainment, and fertility. Second, we examined factors affecting total mortality patterns through a series of counterfactual scenarios, testing the magnitude by which population growth, population age structures, and epidemiological changes contributed to shifts in mortality. Finally, we attributed changes in life expectancy to changes in cause of death. We documented each step of the GBD 2015 estimation

  14. Hand, foot and mouth disease caused by coxsackievirus A6, Beijing, 2013.

    Hongyan, Gu; Chengjie, Ma; Qiaozhi, Yang; Wenhao, Hua; Juan, Li; Lin, Pang; Yanli, Xu; Hongshan, Wei; Xingwang, Li

    2014-12-01

    Specimens and clinical data were collected from 243 hand, foot and mouth disease patients in Beijing in 2013. In total, 130 stool specimens were genotyped for enterovirus. Hand, foot and mouth disease was mainly detected in suburban areas and at the edges of urban areas between May and August. Coxsackievirus (CV) A6 replaced enterovirus (EV) 71 and CVA16, becoming the main causative agent of hand, foot and mouth disease. CVA6 infection led to significantly reduced fever duration and glucose levels compared with EV71 infection.

  15. BROWN SPOT CAUSED BY CURVULARIA SPP., A NEW DISEASE OF ASPARAGUS

    B. SALLEH

    1996-01-01

    Full Text Available The distribution, aetiology and symptomatology of a new disease on asparagus ferns, which we have termed brown spot, is described. Descriptions of and a key to identification of the causal organisms, Curvularia brachyspora, C. eragrostidis, C. lunata and C. pallescens, are also presented. Pathogenicity tests showed that C. lunata was the dominant and most virulent of the four species. Inoculation with conidial suspensions or mycelial transfers through wounded ferns were more effective in inducing the disease than inoculations on unwounded ferns. This is the first record of C. brachyspora in Malaysia and the first report of this disease on asparagus.

  16. Prenatal famine exposure and adult mortality from cancer, cardiovascular disease, and other causes through age 63 years.

    Ekamper, Peter; van Poppel, Frans; Stein, Aryeh D; Bijwaard, Govert E; Lumey, L H

    2015-02-15

    Nutritional conditions in early life may affect adult health, but prior studies of mortality have been limited to small samples. We evaluated the relationship between pre-/perinatal famine exposure during the Dutch Hunger Winter of 1944-1945 and mortality through age 63 years among 41,096 men born in 1944-1947 and examined at age 18 years for universal military service in the Netherlands. Of these men, 22,952 had been born around the time of the Dutch famine in 6 affected cities; the remainder served as unexposed controls. Cox proportional hazards models were used to estimate hazard ratios for death from cancer, heart disease, other natural causes, and external causes. After 1,853,023 person-years of follow-up, we recorded 1,938 deaths from cancer, 1,040 from heart disease, 1,418 from other natural causes, and 523 from external causes. We found no increase in mortality from cancer or cardiovascular disease after prenatal famine exposure. However, there were increases in mortality from other natural causes (hazard ratio = 1.24, 95% confidence interval: 1.03, 1.49) and external causes (hazard ratio = 1.46, 95% confidence interval: 1.09, 1.97) after famine exposure in the first trimester of gestation. Further follow-up of the cohort is needed to provide more accurate risk estimates of mortality from specific causes of death after nutritional disturbances during gestation and very early life. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  17. Acute Hepatopancreatic Necrosis Disease-Causing Vibrio parahaemolyticus Strains Maintain an Antibacterial Type VI Secretion System with Versatile Effector Repertoires.

    Li, Peng; Kinch, Lisa N; Ray, Ann; Dalia, Ankur B; Cong, Qian; Nunan, Linda M; Camilli, Andrew; Grishin, Nick V; Salomon, Dor; Orth, Kim

    2017-07-01

    Acute hepatopancreatic necrosis disease (AHPND) is a newly emerging shrimp disease that has severely damaged the global shrimp industry. AHPND is caused by toxic strains of Vibrio parahaemolyticus that have acquired a "selfish plasmid" encoding the deadly binary toxins PirA vp /PirB vp To better understand the repertoire of virulence factors in AHPND-causing V. parahaemolyticus , we conducted a comparative analysis using the genome sequences of the clinical strain RIMD2210633 and of environmental non-AHPND and toxic AHPND isolates of V. parahaemolyticus Interestingly, we found that all of the AHPND strains, but none of the non-AHPND strains, harbor the antibacterial type VI secretion system 1 (T6SS1), which we previously identified and characterized in the clinical isolate RIMD2210633. This finding suggests that the acquisition of this T6SS might confer to AHPND-causing V. parahaemolyticus a fitness advantage over competing bacteria and facilitate shrimp infection. Additionally, we found highly dynamic effector loci in the T6SS1 of AHPND-causing strains, leading to diverse effector repertoires. Our discovery provides novel insights into AHPND-causing pathogens and reveals a potential target for disease control. IMPORTANCE Acute hepatopancreatic necrosis disease (AHPND) is a serious disease that has caused severe damage and significant financial losses to the global shrimp industry. To better understand and prevent this shrimp disease, it is essential to thoroughly characterize its causative agent, Vibrio parahaemolyticus Although the plasmid-encoded binary toxins PirA vp /PirB vp have been shown to be the primary cause of AHPND, it remains unknown whether other virulent factors are commonly present in V. parahaemolyticus and might play important roles during shrimp infection. Here, we analyzed the genome sequences of clinical, non-AHPND, and AHPND strains to characterize their repertoires of key virulence determinants. Our studies reveal that an antibacterial type

  18. Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl

    Niinikoski, Harri; Haataja, Leena; Brander, Antti; Valanne, Leena; Blaser, Susan

    2009-01-01

    Alexander disease is a rare form of leukodystrophy with a highly variable clinical course. Occasionally night-time nausea and vomiting are the first symptoms of juvenile Alexander disease. A 7-year-old girl had recurrent night-time vomiting and her growth and weight gain had deteriorated after her sixth birthday. Cranial MRI demonstrated two small, symmetrical focal areas of abnormally high signal intensity in the dorsal medulla oblongata on T2-W and FLAIR images. These were suggestive of juvenile Alexander disease, and subsequent sequencing of the glial fibrillary acidic protein (GFAP) gene revealed a heterogeneous missense mutation in the GFAP gene in exon 6. Alexander disease should be considered in young patients with atypical anorexia nervosa-type symptoms. (orig.)

  19. Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl

    Niinikoski, Harri [University of Turku, Department of Paediatrics, Turku (Finland); Haataja, Leena [University of Turku, Department of Paediatrics, Turku (Finland); University of Turku, Department of Pediatric Neurology, Turku (Finland); Brander, Antti [University of Tampere, Department of Radiology, Tampere (Finland); Valanne, Leena [University of Helsinki, Department of Radiology, Helsinki (Finland); Blaser, Susan [Hospital for Sick Children, Department of Radiology, Toronto (Canada)

    2009-08-15

    Alexander disease is a rare form of leukodystrophy with a highly variable clinical course. Occasionally night-time nausea and vomiting are the first symptoms of juvenile Alexander disease. A 7-year-old girl had recurrent night-time vomiting and her growth and weight gain had deteriorated after her sixth birthday. Cranial MRI demonstrated two small, symmetrical focal areas of abnormally high signal intensity in the dorsal medulla oblongata on T2-W and FLAIR images. These were suggestive of juvenile Alexander disease, and subsequent sequencing of the glial fibrillary acidic protein (GFAP) gene revealed a heterogeneous missense mutation in the GFAP gene in exon 6. Alexander disease should be considered in young patients with atypical anorexia nervosa-type symptoms. (orig.)

  20. Moyamoya Disease – a Vasculopahty and an Uncommon Cause of Recurrent Cerebrovascular Accidents

    Yasmin S Hamirani

    2008-09-01

    Full Text Available

    Moyamoya disease is a very rare chronic cerebrovascular disease of unknown etiology characterized by recurrent ischemic or hemorrhagic strokes. Initially diagnosed in Japan and named after finding puff of smoke like collateral blood vessels around the occluded blood vessels of circle of Willis. With increase awareness this disease is now diagnosed more often. Medical and surgical treatment have been used to treat the disease, with surgical treatment been mostly experimental. Special attention should be given to the surgical treatment which has shown to have an edge over the medical treatment in some clinical trials especially in young patients with recurrent strokes to prevent progressive cognitive decline and to improve their quality of life. In our patient, who is a young man, the diagnosis was picked up late and when surgical evaluation was performed, it was considered to be fruitless with findings of nonviable brain tissue on MRI imaging.

  1. Pediatric invasive pneumococcal disease caused by vaccine serotypes following the introduction of conjugate vaccination in Denmark

    Harboe, Zitta B; Valentiner-Branth, Palle; Ingels, Helene

    2013-01-01

    A seven-valent pneumococcal conjugate vaccine (PCV7) was introduced in the Danish childhood immunization program (2+1 schedule) in October 2007, followed by PCV13 starting from April 2010. The nationwide incidence of IPD among children younger than 5 years nearly halved after the introduction...... of children suspected to present with a vaccine failure. The period between April 19 and December 31, 2010 was considered a PCV7/PCV13 transitional period, where both vaccines were offered. We identified 45 episodes of IPD caused by a PCV7 serotype (23% of the total number) and 105 (55%) caused by one...... of the 6 additional serotypes in PCV13. Ten children had received at least one PCV7 dose before the onset of IPD caused by a PCV7 serotype. Seven children were considered to be incompletely vaccinated before IPD, but only three cases fulfilled the criteria of vaccine failure (caused by serotypes 14, 19F...

  2. Unusual multifocal granulomatous disease caused by actinomycetous bacteria in a nestling Derbyan parrot (Psittacula derbiana).

    Park, F J; Jaensch, S

    2009-01-01

    A nestling Derbyan parrot (Psittacula derbiana) was presented with unusual subcutaneous swellings of the thigh regions, and poor growth. Histological examination revealed actinomycetous bacteria associated with multifocal systemic granulomas. The clinical and pathological findings of the case are presented, and some relevant aspects of actinomycetous bacterial infections in mammals and birds are discussed. Although granulomatous disease is encountered at times in avian species, the actinomycetous bacteria (Nocardia and Actinomyces spp.) have rarely been reported in association with multifocal granulomatous disease in birds.

  3. Bighorn sheep pneumonia: sorting out the cause of a polymicrobial disease.

    Besser, Thomas E; Frances Cassirer, E; Highland, Margaret A; Wolff, Peregrine; Justice-Allen, Anne; Mansfield, Kristin; Davis, Margaret A; Foreyt, William

    2013-02-01

    Pneumonia of bighorn sheep (Ovis canadensis) is a dramatic disease of high morbidity and mortality first described more than 80 years ago. The etiology of the disease has been debated since its initial discovery, and at various times lungworms, Mannheimia haemolytica and other Pasteurellaceae, and Mycoplasma ovipneumoniae have been proposed as primary causal agents. A multi-factorial "respiratory disease complex" has also been proposed as confirmation of causation has eluded investigators. In this paper we review the evidence for each of the candidate primary agents with regard to causal criteria including strength of association, temporality, plausibility, experimental evidence, and analogy. While we find some degree of biological plausibility for all agents and strong experimental evidence for M. haemolytica, we demonstrate that of the alternatives considered, M. ovipneumoniae is the best supported by all criteria and is therefore the most parsimonious explanation for the disease. The strong but somewhat controversial experimental evidence implicating disease transmission from domestic sheep is consistent with this finding. Based on epidemiologic and microbiologic data, we propose that healthy bighorn sheep populations are naïve to M. ovipneumoniae, and that its introduction to susceptible bighorn sheep populations results in epizootic polymicrobial bacterial pneumonia often followed by chronic infection in recovered adults. If this hypothesized model is correct, efforts to control this disease by development or application of vectored vaccines to Pasteurellaceae are unlikely to provide significant benefits, whereas efforts to ensure segregation of healthy bighorn sheep populations from M. ovipneumoniae-infected reservoir hosts are crucial to prevention of new disease epizootics. It may also be possible to develop M. ovipneumoniae vaccines or other management strategies that could reduce the impact of this devastating disease in bighorn sheep. Copyright © 2012

  4. Burning mouth syndrome in Parkinson’s disease: dopamine as cure or cause?

    Coon, Elizabeth A.; Laughlin, Ruple S.

    2012-01-01

    Burning mouth syndrome has been reported as being more common in Parkinson’s disease patients than the general population. While the pathophysiology is unclear, decreased dopamine levels and dopamine dysregulation are hypothesized to play a role. We report a patient with Parkinson’s disease who developed burning mouth syndrome with carbidopa/levodopa. Our patient had resolution of burning mouth symptoms when carbidopa/levodopa was replaced with a dopamine agonist. Based on our patient’s clini...

  5. Vegetable Oils Consumption as One of the Leading Cause of Cancer and Heart Disease

    Somayeh Zaminpira; Sorush Niknamian

    2017-01-01

    This review takes a deep look at increases in the incidence of cancer and heart disease after the introduction of industrial vegetable oils in the world. Most vegetable oils are highly processed and refined products, which completely lack the essential nutrients. Omega-6 Linoleic acid from vegetable oils increases oxidative stress in the body of humans, contributing to endothelial dysfunction and heart disease. The consumption of these harmful oils which are high in mega-6 polyunsaturated fat...

  6. Genetic and Morphological Characterization of Cladobotryum Species Causing Cobweb Disease of Mushrooms

    McKay, Gareth J.; Egan, Damian; Morris, Elizabeth; Scott, Carol; Brown, Averil E.

    1999-01-01

    Cladobotryum dendroides (= Dactylium dendroides) has hitherto been regarded as the major causal agent of cobweb disease of the cultivated mushroom, Agaricus bisporus. Nucleotide sequence data for the internal transcribed spacer (ITS) regions of four Cladobotryum/Hypomyces species reported to be associated with cobweb disease, however, indicate that the most common pathogen is now C. mycophilum. This cobweb pathogen varies somewhat in conidial septation from published descriptions of C. mycoph...

  7. Prenatal diagnosis and management of fetal goiter caused by maternal Grave's disease.

    Hadi, H A; Strickland, D

    1995-07-01

    We present a case of maternal Grave's disease associated with fetal goitrous hyperthyroidism. Fetal goiter was diagnosed by ultrasound and diagnosis of fetal hyperthyroidism was established by umbilical blood sampling. Fetus was successfully treated by increasing maternal propylthiouracil dosage. Fetal thyroid status was normal at birth. Role of sonography and umbilical blood sampling in management of fetal goiter complicated with maternal Grave's disease is discussed.

  8. Mining tissue specificity, gene connectivity and disease association to reveal a set of genes that modify the action of disease causing genes

    Reverter Antonio

    2008-09-01

    Full Text Available Abstract Background The tissue specificity of gene expression has been linked to a number of significant outcomes including level of expression, and differential rates of polymorphism, evolution and disease association. Recent studies have also shown the importance of exploring differential gene connectivity and sequence conservation in the identification of disease-associated genes. However, no study relates gene interactions with tissue specificity and disease association. Methods We adopted an a priori approach making as few assumptions as possible to analyse the interplay among gene-gene interactions with tissue specificity and its subsequent likelihood of association with disease. We mined three large datasets comprising expression data drawn from massively parallel signature sequencing across 32 tissues, describing a set of 55,606 true positive interactions for 7,197 genes, and microarray expression results generated during the profiling of systemic inflammation, from which 126,543 interactions among 7,090 genes were reported. Results Amongst the myriad of complex relationships identified between expression, disease, connectivity and tissue specificity, some interesting patterns emerged. These include elevated rates of expression and network connectivity in housekeeping and disease-associated tissue-specific genes. We found that disease-associated genes are more likely to show tissue specific expression and most frequently interact with other disease genes. Using the thresholds defined in these observations, we develop a guilt-by-association algorithm and discover a group of 112 non-disease annotated genes that predominantly interact with disease-associated genes, impacting on disease outcomes. Conclusion We conclude that parameters such as tissue specificity and network connectivity can be used in combination to identify a group of genes, not previously confirmed as disease causing, that are involved in interactions with disease causing

  9. Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

    Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

    2014-01-01

    Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  10. Autoimmunity due to molecular mimicry as a cause of neurological disease.

    Levin, Michael C; Lee, Sang Min; Kalume, Franck; Morcos, Yvette; Dohan, F Curtis; Hasty, Karen A; Callaway, Joseph C; Zunt, Joseph; Desiderio, Dominic; Stuart, John M

    2002-05-01

    One hypothesis that couples infection with autoimmune disease is molecular mimicry. Molecular mimicry is characterized by an immune response to an environmental agent that cross-reacts with a host antigen, resulting in disease. This hypothesis has been implicated in the pathogenesis of diabetes, lupus and multiple sclerosis (MS). There is limited direct evidence linking causative agents with pathogenic immune reactions in these diseases. Our study establishes a clear link between viral infection, autoimmunity and neurological disease in humans. As a model for molecular mimicry, we studied patients with human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP), a disease that can be indistinguishable from MS (refs. 5,6,7). HAM/TSP patients develop antibodies to neurons. We hypothesized these antibodies would identify a central nervous system (CNS) autoantigen. Immunoglobulin G isolated from HAM/TSP patients identified heterogeneous nuclear ribonuclear protein-A1 (hnRNP-A1) as the autoantigen. Antibodies to hnRNP-A1 cross-reacted with HTLV-1-tax, the immune response to which is associated with HAM/TSP (refs. 5,9). Immunoglobulin G specifically stained human Betz cells, whose axons are preferentially damaged. Infusion of autoantibodies in brain sections inhibited neuronal firing, indicative of their pathogenic nature. These data demonstrate the importance of molecular mimicry between an infecting agent and hnRNP-A1 in autoimmune disease of the CNS.

  11. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

    Min Peng

    2008-04-01

    Full Text Available Coenzyme Q (CoQ is an essential electron carrier in the respiratory chain whose deficiency has been implicated in a wide variety of human mitochondrial disease manifestations. Its multi-step biosynthesis involves production of polyisoprenoid diphosphate in a reaction that requires the enzymes be encoded by PDSS1 and PDSS2. Homozygous mutations in either of these genes, in humans, lead to severe neuromuscular disease, with nephrotic syndrome seen in PDSS2 deficiency. We now show that a presumed autoimmune kidney disease in mice with the missense Pdss2(kd/kd genotype can be attributed to a mitochondrial CoQ biosynthetic defect. Levels of CoQ9 and CoQ10 in kidney homogenates from B6.Pdss2(kd/kd mutants were significantly lower than those in B6 control mice. Disease manifestations originate specifically in glomerular podocytes, as renal disease is seen in Podocin/cre,Pdss2(loxP/loxP knockout mice but not in conditional knockouts targeted to renal tubular epithelium, monocytes, or hepatocytes. Liver-conditional B6.Alb/cre,Pdss2(loxP/loxP knockout mice have no overt disease despite demonstration that their livers have undetectable CoQ9 levels, impaired respiratory capacity, and significantly altered intermediary metabolism as evidenced by transcriptional profiling and amino acid quantitation. These data suggest that disease manifestations of CoQ deficiency relate to tissue-specific respiratory capacity thresholds, with glomerular podocytes displaying the greatest sensitivity to Pdss2 impairment.

  12. Effectiveness of siwak Salvadora Persica extract to Aggregatibacter Actinomycetemcomitans as one of pathogenic bacteria causing periodontal disease

    Arni Irawaty Djais

    2017-04-01

    Full Text Available Objective : Periodontal disease is one of oral and dental diseases which most commonly found in humans caused by several factors, one of them due to the accumulation of bacterial plaque. Aggregatibacter actinomycetemcomitans is a bacterial pathogen that frequently causes periodontal disease. Material and Methods : To inhibit the growth of these bacteria can be done by using natural ingredients that contain anti-bacterial agent. One of the natural ingredients that contain antibacterial substances is Siwak. To determine the effect of siwak extract against bacteria Aggregatibacter actinobaciluscomnitans as one of the pathogenic bacteria causing periodontal diseases. The study was laboratory experimental with posttest only control group design. Results : This study used sample of Aggregatibacter actinomycetemcomitans colonies in MHA medium. Twenty four samples were divided into six treatment groups, they were 5 groups given the extract siwak with concentration of 3.125%, 6:25%, 12.5%, 25%, 50% and 1 group treated with control DMSO 5%. Inhibition zone was measured after 48 hours incubation at 37°C and measured using caliper. Data analysis was performed using Kruskal Wallis test. The mean diameter of inhibition zone at concentrations of 3.125%, 6:25%, 12.5%, 25%, and 50% were 6.4 mm, 7.0 mm, 7.2 mm, 7.9 mm and 8.6 mm. Conclusion : Siwak extract can inhibit the growth of Aggregatibacter actinomycetemcomitans as one of the pathogenic bacteria causing periodontal diseases with the largest concentration is a concentration of 50% and the smallest concentration that is 3.125%.

  13. Frequent occurrence of stomach and intestinal diseases in cattle caused by iron containing flue gases

    Henneman, J

    1931-01-01

    Farmers near the magnesium factory in Veitsch, Styria, Austria, complained about stomach and intestinal troubles of their cattle accompanied by a lower milk production. While the disease spread up to 4 or 5 km along the valley in the direction of the wind, it did not occur beyond 500 to 800 m from the factory in the opposite direction of the wind. Moreover, the disease worsened in dry weather and improved in rainy weather. The cattle recovered rapidly after the operation of the kiln was halted for some time. One farmer claimed that the quality of the milk also changed, while four other farmers could not confirm this observation. Veterinary examinations determined that in all cases heavy diarrhea occurred. The mucous tissue in the mouth was rather dry. Except for one case no fever was measured. The cow most seriously affected by the disease showed an enlargement of the liver. The respiratory organs of all examined cases showed no abnormality. Samples of the fodder and the excreta as well as of the mucous tissue of the stomach were sent to a chemical laboratory for examination. Substantial amounts of iron were found in all these samples. In the fodder it was found in the form of rust particles. An examination of the flue gas from the magnesium factory confirmed the assumption that it discharged the iron. The disease was found to afflict the digestive tract only, no respiratory diseases, tuberculosis, or osteomalacia was observed.

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

    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.

  15. Incidence, adherence, and antibiotic resistance of coagulase-negative Staphylococcus species causing human disease.

    Needham, C A; Stempsey, W

    1984-09-01

    Fifty-two isolates of coagulase-negative Staphylococcus species recovered from the blood or intravenous catheters of patients with clinically significant disease were compared to 60 similar isolates from patients who were presumably colonized. All isolates were identified and evaluated for ability to adhere to smooth surfaces, and resistance to anti-staphylococcal penicillins. S. epidermidis, S. hominis, and S. haemolyticus were the most frequently occurring species, representing 65%, 15%, and 10%, respectively, of disease isolates and 57%, 25%, and 8% of colonizers. The seven other species recovered accounted for only 10% of the total in both groups. Differences in isolation rates of each species within the two groups were not significant and were reflective of their reported incidence in the normal flora. All species of coagulase-negative Staphylococcus (except S. capitis and S. cohnii, which were isolated in very small numbers) were capable of adhering to smooth surfaces. S. hominis disease isolates were all capable of adherence, and the difference between the disease isolates and colonizers was statistically significant (p less than 0.02). This was not true for any other species that was analyzed nor for all isolates considered as a whole. Resistance to anti-staphylococcal penicillins was documented for all coagulase-negative Staphylococcus species, and was more frequent in S. epidermidis disease isolates than colonizers (p less than 0.05). No correlation was found between resistance to antistaphylococcal penicillins and ability to adhere.

  16. Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

    Wens, Stephan C A; Schaaf, Gerben J; Michels, Michelle; Kruijshaar, Michelle E; van Gestel, Tom J M; In 't Groen, Stijn; Pijnenburg, Joon; Dekkers, Dick H W; Demmers, Jeroen A A; Verdijk, Lex B; Brusse, Esther; van Schaik, Ron H N; van der Ploeg, Ans T; van Doorn, Pieter A; Pijnappel, W W M Pim

    2016-02-01

    Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or myocardial injury. In 122 patients with Pompe disease, the relationship between cTnT, cardiac troponin I, creatine kinase (CK), CK-myocardial band levels, and skeletal muscle damage was assessed. ECG and echocardiography were used to evaluate possible cardiac disease. Patients were divided into classic infantile, childhood-onset, and adult-onset patients. cTnT levels were elevated in 82% of patients (median 27 ng/L, normal values normal in all patients, whereas CK-myocardial band levels were increased in 59% of patients. cTnT levels correlated with CK levels in all 3 subgroups (Pmass index measured with echocardiography was normal in all the 3 subgroups. cTnT mRNA expression in skeletal muscle was not detectable in controls but was strongly induced in patients with Pompe disease. cTnT protein was identified by mass spectrometry in patient-derived skeletal muscle tissue. Elevated plasma cTnT levels in patients with Pompe disease are associated with skeletal muscle damage, rather than acute myocardial injury. Increased cTnT levels in Pompe disease and likely other neuromuscular disorders should be interpreted with caution to avoid unnecessary cardiac interventions. © 2016 American Heart Association, Inc.

  17. Association between NOx exposure and deaths caused by respiratory diseases in a medium-sized Brazilian city

    A. C. G. César

    2015-12-01

    Full Text Available Exposure to nitrogen oxides (NOx emitted by burning fossil fuels has been associated with respiratory diseases. We aimed to estimate the effects of NOx exposure on mortality owing to respiratory diseases in residents of Taubaté, São Paulo, Brazil, of all ages and both sexes. This time-series ecological study from August 1, 2011 to July 31, 2012 used information on deaths caused by respiratory diseases obtained from the Health Department of Taubaté. Estimated daily levels of pollutants (NOx, particulate matter, ozone, carbon monoxide were obtained from the Centro de Previsão de Tempo e Estudos Climáticos Coupled Aerosol and Tracer Transport model to the Brazilian developments on the Regional Atmospheric Modeling System. These environmental variables were used to adjust the multipollutant model for apparent temperature. To estimate association between hospitalizations owing to asthma and air pollutants, generalized additive Poisson regression models were developed, with lags as much as 5 days. There were 385 deaths with a daily mean (±SD of 1.05±1.03 (range: 0-5. Exposure to NOx was significantly associated with mortality owing to respiratory diseases: relative risk (RR=1.035 (95% confidence interval [CI]: 1.008-1.063 for lag 2, RR=1.064 (95%CI: 1.017-1.112 lag 3, RR=1.055 (95%CI: 1.025-1.085 lag 4, and RR=1.042 (95%CI: 1.010-1.076 lag 5. A 3 µg/m3 reduction in NOx concentration resulted in a decrease of 10-18 percentage points in risk of death caused by respiratory diseases. Even at NOx concentrations below the acceptable standard, there is association with deaths caused by respiratory diseases.

  18. [Evaluation of the standard application of Delphi in the diagnosis of chronic obstructive pulmonary disease caused by occupational irritant chemicals].

    Zhao, L; Yan, Y J

    2017-11-20

    Objective: To investigate the problems encountered in the application of the standard (hereinafter referred to as standard) for the diagnosis of chronic obstructive pulmonary disease caused by occu-pational irritant chemicals, to provide reference for the revision of the new standard, to reduce the number of missed patients in occupational COPD, and to get rid of the working environment of those who suffer from chronic respiratory diseases due to long-term exposure to poisons., slowing the progression of the disease. Methods: Using Delphi (Delphi) Expert research method, after the senior experts to demonstrate, to under-stand the GBZ 237-2011 "occupational irritant chemicals to the diagnosis of chronic obstructive pulmonary dis-ease" standard evaluation of the system encountered problems, to seek expert advice, The problems encoun-tered during the clinical implementation of the standards promulgated in 2011 are presented. Results: Through the Delphi Expert investigation method, it is found that experts agree on the content evaluation and implemen-tation evaluation in the standard, but the operational evaluation of the standard is disputed. According to the clinical experience, the experts believe that the range of occupational irritant gases should be expanded, and the operation of the problem of smoking, seniority determination and occupational contact history should be challenged during the diagnosis. Conclusions: Since the promulgation in 2011 of the criteria for the diagnosis of chronic obstructive pulmonary disease caused by occupational stimulant chemicals, there have been some problems in the implementation process, which have caused many occupationally exposed to irritating gases to suffer from "occupational chronic respiratory Diseases" without a definitive diagnosis.

  19. A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

    Okamoto, Takayuki; Tajima, Toshihiro; Hirayama, Tomoya; Sasaki, Satoshi

    2012-02-01

    Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrome. At the age of 3 years, he was diagnosed with Dent disease based on low molecular weight proteinuria and hypercalciuria. One year later, he was found to have features of Bartter syndrome, i.e., hypokalemia and metabolic alkalosis, and high levels of plasma renin activity and aldosterone with a normal blood pressure. Despite medical interventions, he developed chronic kidney disease stage 3 at the age of 21 years. To investigate the molecular basis of his disease, CLCN5, KCNJ1, SLC12A1, and CLCkb were analyzed and a novel mutation (Y567X) in CLCN5 was identified. Hypokalemic metabolic alkalosis is a rare manifestation in Dent disease. It is speculated that Dent patients with features of Bartter syndrome are susceptible to progression to renal failure. To study this hypothesis, additional observations and long-term follow-up of such patients are necessary.

  20. Milk Consumption and Mortality from All Causes, Cardiovascular Disease, and Cancer: A Systematic Review and Meta-Analysis.

    Larsson, Susanna C; Crippa, Alessio; Orsini, Nicola; Wolk, Alicja; Michaëlsson, Karl

    2015-09-11

    Results from epidemiological studies of milk consumption and mortality are inconsistent. We conducted a systematic review and meta-analysis of prospective studies assessing the association of non-fermented and fermented milk consumption with mortality from all causes, cardiovascular disease, and cancer. PubMed was searched until August 2015. A two-stage, random-effects, dose-response meta-analysis was used to combine study-specific results. Heterogeneity among studies was assessed with the I² statistic. During follow-up periods ranging from 4.1 to 25 years, 70,743 deaths occurred among 367,505 participants. The range of non-fermented and fermented milk consumption and the shape of the associations between milk consumption and mortality differed considerably between studies. There was substantial heterogeneity among studies of non-fermented milk consumption in relation to mortality from all causes (12 studies; I² = 94%), cardiovascular disease (five studies; I² = 93%), and cancer (four studies; I² = 75%) as well as among studies of fermented milk consumption and all-cause mortality (seven studies; I² = 88%). Thus, estimating pooled hazard ratios was not appropriate. Heterogeneity among studies was observed in most subgroups defined by sex, country, and study quality. In conclusion, we observed no consistent association between milk consumption and all-cause or cause-specific mortality.

  1. Xylella fastidiosa Isolates from Both subsp. multiplex and fastidiosa Cause Disease on Southern Highbush Blueberry (Vaccinium sp.) Under Greenhouse Conditions.

    Oliver, J E; Cobine, P A; De La Fuente, L

    2015-07-01

    Xylella fastidiosa is a xylem-limited gram-negative plant pathogen that affects numerous crop species, including grape, citrus, peach, pecan, and almond. Recently, X. fastidiosa has also been found to be the cause of bacterial leaf scorch on blueberry in the southeastern United States. Thus far, all X. fastidiosa isolates obtained from infected blueberry have been classified as X. fastidiosa subsp. multiplex; however, X. fastidiosa subsp. fastidiosa isolates are also present in the southeastern United States and commonly cause Pierce's disease of grapevines. In this study, seven southeastern U.S. isolates of X. fastidiosa, including three X. fastidiosa subsp. fastidiosa isolates from grape, one X. fastidiosa subsp. fastidiosa isolate from elderberry, and three X. fastidiosa subsp. multiplex isolates from blueberry, were used to infect the southern highbush blueberry 'Rebel'. Following inoculation, all isolates colonized blueberry, and isolates from both X. fastidiosa subsp. multiplex and X. fastidiosa subsp. fastidiosa caused symptoms, including characteristic stem yellowing and leaf scorch symptoms as well as dieback of the stem tips. Two X. fastidiosa subsp. multiplex isolates from blueberry caused more severe symptoms than the other isolates examined, and infection with these two isolates also had a significant impact on host mineral nutrient content in sap and leaves. These findings have potential implications for understanding X. fastidiosa host adaptation and expansion and the development of emerging diseases caused by this bacterium.

  2. Is gluten a cause of gastrointestinal symptoms in people without celiac disease?

    Biesiekierski, Jessica R; Muir, Jane G; Gibson, Peter R

    2013-12-01

    The avoidance of wheat- and gluten-containing products is a worldwide phenomenon. While celiac disease is a well-established entity, the evidence base for gluten as a trigger of symptoms in patients without celiac disease (so-called 'non-celiac gluten sensitivity' or NCGS) is limited. The problems lie in the complexity of wheat and the ability of its carbohydrate as well as protein components to trigger gastrointestinal symptoms, the potentially false assumption that response to a gluten-free diet equates to an effect of gluten withdrawal, and diagnostic criteria for coeliac disease. Recent randomized controlled re-challenge trials have suggested that gluten may worsen gastrointestinal symptoms, but failed to confirm patients with self-perceived NCGS have specific gluten sensitivity. Furthermore, mechanisms by which gluten triggers symptoms have yet to be identified. This review discusses the most recent scientific evidence and our current understanding of NCGS.

  3. Disease-Causing Fungi in Homes and Yards in the Midwestern United States

    Dennis J. Baumgardner

    2016-04-01

    Full Text Available A number of fungal pathogens that may result in a variety of human diseases are found in residential homes and yards. The growth of these microscopic fungi is often favored by particular characteristics of the dwelling and nearby outdoor environment. Evolved virulence factors or increased ability of specific fungi to grow in diverse, and sometimes harsh, microenvironments presented by the domestic environment may promote growth and pathogenesis. Infection may occur by inhalation or direct inoculation and include endemic fungi in addition to opportunistic or emerging species. Systemic or locally aggressive fungal infections are particularly likely and may be life-threatening in those with compromised immune systems. Allergic disease may include sinusitis, pneumonitis and immediate hypersensitivity. Controversial topics include mycotoxins, volatile organic compounds and sick building syndrome. This narrative review describes the usual presentations, domestic environmental sources, prevention techniques and risk of acquiring these diseases in the Midwestern United States.

  4. Chronic tattoo reactions cause reduced quality of life equaling cumbersome skin diseases

    Carlsen, Katrina Hutton; Serup, Jørgen

    2015-01-01

    applied to patients with chronic tattoo reactions, tattoo complaints and impact on quality of life that were comparable to patients presenting cumbersome dermatological disease such as psoriasis, eczema and pruritus, which often show widespread effects to the skin, were uncovered. In conclusion, chronic...... impacts, including the effect on quality of life, should be studied. Itch severity and influence on quality of life can be measured objectively. The Itch Severity Scale and Dermatology Life Quality Index scoring systems have been applied to different dermatological diseases. When ISS and DLQI scores were...... tattoo reactions should be ranked as a cumbersome dermatological disease and, accordingly, given priority attention and qualified treatment by the public health care system....

  5. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

    Lindquist, S.G.; Nielsen, J.E.; Stokholm, J.

    2008-01-01

    BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic...... features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features. METHODS AND RESULTS: We report a family with a history of dementia compatible with autosomal dominant transmission. The disease course in the proband was not typical for Alzheimer......'s disease as the diagnosis was preceded by 8 years of an isolated amnesia. Further, the proband had epilepsy with complex partial seizures and central degenerative autonomic failure as determined by clinical physiology. Sequencing the three known causative Alzheimer genes revealed a pathogenic missense...

  6. Zika, chikungunya and dengue: the causes and threats of new and re-emerging arboviral diseases.

    Paixão, Enny S; Teixeira, Maria Gloria; Rodrigues, Laura C

    2018-01-01

    The recent emergence and re-emergence of viral infections transmitted by vectors-Zika, chikungunya, dengue, Japanese encephalitis, West Nile, yellow fever and others-is a cause for international concern. Using as examples Zika, chikungunya and dengue, we summarise current knowledge on characteristics of the viruses and their transmission, clinical features, laboratory diagnosis, burden, history, possible causes of the spread and the expectation for future epidemics. Arboviruses are transmitted by mosquitoes, are of difficult diagnosis, can have surprising clinical complications and cause severe burden. The current situation is complex, because there is no vaccine for Zika and chikungunya and no specific treatment for the three arboviruses. Vector control is the only comprehensive solution available now and this remains a challenge because up to now this has not been very effective. Until we develop new technologies of control mosquito populations, the globalised and urbanised world we live in will remain vulnerable to the threat of successive arbovirus epidemics.

  7. Dyssynergic defecation: a treatable cause of persistent symptoms when inflammatory bowel disease is in remission.

    Perera, Lilani P; Ananthakrishnan, Ashwin N; Guilday, Corinne; Remshak, Kristin; Zadvornova, Yelena; Naik, Amar S; Stein, Daniel J; Massey, Benson T

    2013-12-01

    Introduction of biologic agents in inflammatory bowel disease (IBD) has increased the likelihood of disease remission. Despite resolution of active inflammation, a subset of IBD patients report persistent defecatory symptoms. To evaluate a group of patients with inflammatory bowel disease with suspected functional defecatory disorders, by use of anorectal manometric testing and subsequent biofeedback therapy. A group of IBD patients with persistent defecatory problems despite clinical improvement were included in this study. These patients had no evidence of left-sided disease. Endoscopic and radiographic study findings and timing in relation to the manometry study were recorded. Anorectal manometry was performed by the standard protocol and included rectal sensory assessment, ability to expel a balloon, and pressure dynamics with simulated defecation. Thirty IBD patients (Crohn's 23 patients; ulcerative colitis six patients) presented with defecatory disorders including constipation (67%) increased stooling (10%), and rectal urgency and/or incontinence and rectal pain (6%). All but one patient had anorectal manometric criteria of dyssynergia (presence of anismus motor pattern and inability to expel the balloon). Of the patients who completed biofeedback therapy, 30% had a clinically significant (≥7-point) improvement in SIBDQ score, with a reduction in health-care utilization after a six-month period (p=0.02). Despite remission, some inflammatory bowel disease patients have persistent defecatory symptoms. Defecatory symptoms may not be predictive of an underlying inflammatory disorder. Lack of inflammatory activity and absence of left-sided disease should prompt investigation of functional disorders. Anorectal manometric testing and biofeedback therapy for patients with a diagnosis of dyssynergia may be a useful therapy.

  8. Mapping Global Potential Risk of Mango Sudden Decline Disease Caused by Ceratocystis fimbriata

    Oliveira, Leonardo S. S.; Alfenas, Acelino C.; Neven, Lisa G.; Al-Sadi, Abdullah M.

    2016-01-01

    The Mango Sudden Decline (MSD), also referred to as Mango Wilt, is an important disease of mango in Brazil, Oman and Pakistan. This fungus is mainly disseminated by the mango bark beetle, Hypocryphalus mangiferae (Stebbing), by infected plant material, and the infested soils where it is able to survive for long periods. The best way to avoid losses due to MSD is to prevent its establishment in mango production areas. Our objectives in this study were to: (1) predict the global potential distribution of MSD, (2) identify the mango growing areas that are under potential risk of MSD establishment, and (3) identify climatic factors associated with MSD distribution. Occurrence records were collected from Brazil, Oman and Pakistan where the disease is currently known to occur in mango. We used the correlative maximum entropy based model (MaxEnt) algorithm to assess the global potential distribution of MSD. The MaxEnt model predicted suitable areas in countries where the disease does not already occur in mango, but where mango is grown. Among these areas are the largest mango producers in the world including India, China, Thailand, Indonesia, and Mexico. The mean annual temperature, precipitation of coldest quarter, precipitation seasonality, and precipitation of driest month variables contributed most to the potential distribution of MSD disease. The mango bark beetle vector is known to occur beyond the locations where MSD currently exists and where the model predicted suitable areas, thus showing a high likelihood for disease establishment in areas predicted by our model. Our study is the first to map the potential risk of MSD establishment on a global scale. This information can be used in designing strategies to prevent introduction and establishment of MSD disease, and in preparation of efficient pest risk assessments and monitoring programs. PMID:27415625

  9. Is nutrient intake a gender-specific cause for enhanced susceptibility to alcohol-induced liver disease in women?

    Wagnerberger, S.; Schafer, C.; Schwarz, E.

    2008-01-01

    Aim: Women have a higher susceptibility to alcohol-induced liver disease (ALD) than men. Gender-related differences in food preference were described in previous studies for several populations, but not in alcohol abusers. As certain micronutrients are reported to take influence on the development...... of ALD in animal experiments, the hypothesis of the present retrospective cross-sectional study was that gender-dependent (micro-) nutrient intake in patients with ALD may cause the higher susceptibility of women to this disease. Methods: In 210 patients (male: 158, female: 52) with different stages...

  10. Isolated Norrie disease in a female caused by a balanced translocation t(X,6).

    Meire, F M; Lafaut, B A; Speleman, F; Hanssens, M

    1998-12-01

    This is the second report of Norrie disease in a female patient with a de-novo balanced translocation t(X,6) with breakpoint at the location of the Norrie gene. At the age of 3 months, a girl was referred for suspected congenital glaucoma. The right eye was microphthalmic and ultrasonography was compatible with persistent hyperplasia of the primary vitreous. The left eye was also microphthalmic. The left cornea was larger than the right. The anterior chamber was virtual and leukocoria was evident. The eye felt hard digitally. Ultrasonography indicated an organized retinal detachment. The pathologic findings are reported and are compatible with Norrie disease.

  11. Mucopolysaccharidoses Causing Valvular Heart Disease: Report and Review of Surgical Management.

    Encarnacion, Carlos O; Hang, Dustin; Earing, Michael; Mitchell, Michael E

    2017-01-01

    Mucopolysaccharidosis type I is a genetic disorder with impaired glycosaminoglycan degradation. Cardiac pathologic involvement in this subset of patients is predominantly valvular heart disease. Valvular heart disease seen in these patients will most likely require surgical intervention in their lifetime. Only a limited amount of reports are dedicated to the cardiac surgical management of mucopolysaccharidoses. We present the case of a 32-year-old female with Hurler-Scheie syndrome who required multiple valve replacements due to progression of valvular dysfunction and decline in the quality of life. Multidisciplinary evaluation and discussion early are crucial for quality of life optimization in this cohort of patients.

  12. An unusual cause of acute renal failure in sickle cell disease

    Rockx, Marie-Antoinette; Gibson, Ian W.; Reslerova, Martina

    2009-01-01

    A young female with sickle cell disease was treated for biopsy-proven IgA nephropathy. Serum creatinine levels resolved to normal range, but a year later, she presented with oedema, hypertension and acute renal failure. A repeat renal biopsy showed acute-on-chronic thrombotic microangiopathy (TMA). We suggest that circulating microparticles could be a pathophysiological link between sickle cell disease and the development of renal TMA. This case emphasizes the importance of a further biopsy for acutely declining renal function, even when a definite diagnosis has been made from a previous biopsy. PMID:25949348

  13. Diphyllobothriasis caused by Diphyllobothrium latum in Southeast Asia: A new emerging fish-borne disease

    Somsri Wiwanitkit

    2016-01-01

    Full Text Available Diphyllobothriasis caused by Diphyllobothrium latum is an important helminthiasis. It is seen in many non-tropical countries. Since it is a marine fish-borne zoonosis, it becomes an important issue in coastal medicine. However, in the few recent years, there are some reports on a new emerging diphyllobothriasis caused by Diphyllobothrium latum in tropical countries. In this specific short article, the authors review and present on the situation of diphyllobothriasis in Southeast Asia. Diphyllobothriasis presently becomes a new concern in tropical coastal medicine.

  14. THE CAUSES AND THE COURSE OF CHRONIC KIDNEY DISEASE IN CHILDREN OF PRESCHOOL AGE

    T. Yu. Abaseeva; T. E. Pankratenko; A. A. Burov; Kh. M. Emirova; A. L. Muzurov

    2015-01-01

    Background: Data on etiology and clinical course of CKD stage  3 to 5 in children of preschool  age could help obstetricians, pediatricians, and nephrologists with proper diagnostics and management of this condition and prediction of outcomes. Aim: To study causes and clinical features of CKD stage 3 to 5 in preschool  children. Materials and methods: The causes and clinical features of CKD stage 3 to 5 were investigated in 55 preschool children aged from 7 months  to 8 years. Twenty four had...

  15. Corynebacterium renale as a cause of reactions to the complement fixation test for Johne's disease

    Gilmour, N.J.L.; Goudswaard, J.

    Complement fixation (C.F.) tests and fluorescent antibody (F.A.) tests were carried out on sera from rabbits inoculated with Corynebacterium renale and Mycobacterium johnei, and on sera from cattle with C. renale pyelonephritis and with Johne's disease. Cross-reactions were a feature of the C.F.

  16. An emerging disease in blueberry caused by a novel RNA virus

    A new disorder was observed on southern highbush blueberry (Vaccinium corymbosum interspecific hybrids) in several southeastern states. Symptoms included irregularly shaped circular spots or blotches with green centers on the top and bottom of leaves. The disease was reported initially in the state ...

  17. Neuroretinitis Caused by Bartonella henselae (Cat-Scratch Disease in a 13-Year-Old Girl

    Teodoro Durá-Travé

    2010-01-01

    Full Text Available Cat-scratch disease-related neuroretinitis is a relatively unusual pathology, with suspicious clinical epidemiological and serological diagnosis. We present a case of an adolescent suffering from unilateral neuroretinitis associated with Bartonella henselae infection characterized by abrupt loss of vision, optic disc swelling, and macular star exudates with optimal response to antibiotic treatment.

  18. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

    Xia Wang

    Full Text Available When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives.We performed targeted next-generation sequencing analysis on 207 ocular disease-related genes for 42 patients whose DNA had been tested negative for disease-specific panels of genes known to be associated with retinitis pigmentosa, Leber congenital amaurosis, or exudative vitreoretinopathy.Pathogenic variants, including single nucleotide variations and copy number variations, were identified in 9 patients, including 6 with variants in syndromic retinal disease genes and 3 whose molecular diagnosis could not be distinguished easily from their submitted clinical diagnosis, accounting for 21% (9/42 of the unsolved cases.Our study underscores the clinical and genetic heterogeneity of retinal disorders and provides valuable reference to estimate the fraction of clinical samples whose retinal disorders could be explained by genes not specifically associated with the corresponding clinical diagnosis. Our data suggest that sequencing a larger set of retinal disorder related genes can increase the molecular diagnostic yield, especially for clinically hard-to-distinguish cases.

  19. Java project on periodontal diseases: causes of tooth loss in a cohort of untreated individuals

    van der Velden, U.; Amaliya, A.; Loos, B.G.; Timmerman, M.F.; van der Weijden, F.A.; Winkel, E.G.; Abbas, F.

    2015-01-01

    Objective To assess the relative contribution of caries and periodontal disease to tooth loss over 24 years in a cohort deprived of regular dental care. Material & Methods The study population consisted of 98 subjects from a tea estate on West Java, Indonesia, that had been part of a prospective

  20. Java project on periodontal diseases : causes of tooth loss in a cohort of untreated individuals

    van der Velden, Ubele; Amaliya, Amaliya; Loos, Bruno G.; Timmerman, Mark F.; van der Weijden, Fridus A.; Winkel, Edwin G.; Abbas, Frank

    ObjectiveTo assess the relative contribution of caries and periodontal disease to tooth loss over 24years in a cohort deprived of regular dental care. Material & MethodsThe study population consisted of 98 subjects from a tea estate on West Java, Indonesia, that had been part of a prospective

  1. Aspirin in Alzheimer's Disease Increased Risk of Intracerebral Hemorrhage: Cause for Concern?

    Thoonsen, Hanneke; Richard, Edo; Bentham, Peter; Gray, Richard; van Geloven, Nan; de Haan, Rob J.; van Gool, Willem A.; Nederkoorn, Paul J.

    2010-01-01

    Background and Purpose-In a randomized controlled trial in Alzheimer's disease (AD), we found a higher number of intracerebral hemorrhages (ICHs) in patients randomized to aspirin treatment. Here, we evaluate the literature on the risk of ICH as a complication in patients with AD treated with

  2. Inherited Cardiac Diseases Caused by Mutations in the Nav1.5 Sodium Channel

    Tfelt-Hansen, Jacob; Winkel, Bo Gregers; Grunnet, Morten

    2009-01-01

    form of arrhythmia, atrial fibrillation (AF). In this comprehensive review, we describe the functional role of Nav1.5 and its associated proteins in propagation and depolarization both in a normal- and in a pathophysiological setting. Furthermore, several of the arrhythmogenic diseases, such as long...

  3. Childhood Obesity & Dental Disease: Common Causes, Common Solutions. Oral Health & Obesity Policy Brief

    Children Now, 2011

    2011-01-01

    Too many California children suffer from high rates of preventable chronic conditions associated with childhood obesity and dental disease. The state is experiencing a crisis in both areas. Fortunately, common factors that contribute to both conditions--including the rates of breastfeeding, access to healthy food and the consumption of…

  4. An abnormal screening mammogram causes more anxiety than a palpable lump in benign breast disease

    Keyzer-Dekker, C. M. G.; van Esch, L.; de Vries, J.; Ernst, Marloes; Nieuwenhuijzen, G. A. P.; Roukema, J. A.; van der Steeg, A. F. W.

    Being recalled for further diagnostic procedures after an abnormal screening mammogram (ASM) can evoke a high state anxiety with lowered quality of life (QoL). We examined whether these adverse psychological consequences are found in all women with benign breast disease (BBD) or are particular to

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

    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...

  6. First report of Colletotrichum spp. causing diseases on Capsicum spp. in Sabah, Borneo, Malaysia

    H.K. Yun

    2009-08-01

    Full Text Available Blackish or orange liquid-like spots were found on (n=100 fruits of chillies (Capsicum sold in five local markets in Kota Kinabalu, Sabah, Malaysia. Colletotrichum gloeosporioides and C. capsici were identified as the causal agents of an anthracnose disease. This is the first report of Colletotrichum spp. as the causal agent of anthracnose infected chillies in Sabah.

  7. Outbreak of meningococcal disease caused by PorA-deficient meningococci

    van der Ende, A.; Hopman, C. T. P.; Keijzers, W. C. M.; Spanjaard, L.; Lodder, E. B.; van Keulen, P. H. J.; Dankert, J.

    2003-01-01

    An outbreak of 7 cases of group C meningococcal disease occurred during the last week of July and the first week of August 2001 in the southwestern part of The Netherlands. Characterization of the 7 patients' isolates by various typing methods showed that the isolates were identical, except for the

  8. Volunteers as caregivers for elderly with chronic diseases: An assessment of demand and cause of demand

    Long Zhao

    2015-09-01

    Conclusion: The data presented here suggest that the government should actively advocate for volunteer service for elderly with chronic diseases. Additional support is needed in terms of financial support, incentive measures, professional training for volunteers, and supervision of volunteers. Such developments are needed to improve volunteer service standards.

  9. DIVERSITY OF PUCCINIA KUEHNII AND P. MELANOCEPHALA CAUSING RUST DISEASES ON BRAZILIAN SUGARCANE

    Sugarcane industry in Brazil suffers yield loss due to brown rust (Puccinia melanocephala) since 1986 and orange rust (P. kuehnii) as recent as 2009. The main control measure for both diseases has been cultivar resistance. Nevertheless, recent onsets of orange rust on previously resistant cultivars ...

  10. Bacterial brown leaf spot of citrus, a new disease caused by Burkholderia andropogonis

    A new bacterial disease of citrus was recently identified in Florida and named as bacterial brown leaf spot (BBLS) of citrus. BBLS-infected citrus displayed flat, circular and brownish lesions with water-soaked margins surrounded by a chlorotic halo on leaves. Based on Biolog carbon source metabolic...

  11. Principal disease or cause of death in nonsacrifice beagles receiving gamma radiation during development

    Thomassen, R.W.; Hargis, A.M.; Benjamin, S.A.

    1978-01-01

    Epilepsy, hypothyroidism, cor pulmonale, and neoplasia are the leading causes of death of Segment III beagles, accounting for 90 to 208 fatalities from 1968 through 1977. Of the four, only neoplasia appears to be related to radiation history. Fifteen of 16 dogs dying of neoplasia were irradiated. Nine of these were exposed at either 55 days post coitus (dpc) or 2 days post partum

  12. Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

    Oonk, A.M.M.; Huet, R.A.C. van; Leijendeckers, J.M.; Oostrik, J.; Venselaar, H.; WIjk, E. van; Beynon, A.J.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Schraders, M.; Pennings, R.J.E.

    2015-01-01

    OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN:

  13. Hematogenously Disseminated Skin Disease Caused by Mucor velutinosus in a Patient with Acute Myeloid Leukemia▿

    Sugui, Janyce A.; Christensen, Jesica A.; Bennett, John E.; Zelazny, Adrian M.; Kwon-Chung, Kyung J.

    2011-01-01

    We report here a case of disseminated skin infection caused by Mucor velutinosus, a recently described new species. We believe this to be the first published report of a clinical case of mucormycosis due to M. velutinosus, as well as a rare case of dissemination from a deep site to skin. PMID:21543575

  14. The predictive value of fatigue for nonfatal ischemic heart disease and all-cause mortality

    Ekmann, Anette; Osler, Merete; Avlund, Kirsten

    2012-01-01

    IHD were asked if they felt fatigued. Information on IHD diagnosis and all-cause mortality was register based. The Cox proportional hazard model was used to test the association at 4-year follow-up. Results Fatigue was associated with hospitalization for nonfatal IHD (hazard ratio [HR] = 1.98, 95...

  15. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

    Weber, Stefanie; Thiele, Holger; Mir, Sevgi; Toliat, Mohammad Reza; Sozeri, Betül; Reutter, Heiko; Draaken, Markus; Ludwig, Michael; Altmüller, Janine; Frommolt, Peter; Stuart, Helen M; Ranjzad, Parisa; Hanley, Neil A; Jennings, Rachel; Newman, William G; Wilcox, Duncan T; Thiel, Uwe; Schlingmann, Karl Peter; Beetz, Rolf; Hoyer, Peter F; Konrad, Martin; Schaefer, Franz; Nürnberg, Peter; Woolf, Adrian S

    2011-11-11

    Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  16. Pathology, toxicology, and latency of irritant gases known to cause bronchiolitis obliterans disease: Does diacetyl fit the pattern?

    Brent D. Kerger

    2015-01-01

    Full Text Available Bronchiolitis obliterans (BO is a rare disease involving concentric bronchiolar fibrosis that develops rapidly following inhalation of certain irritant gases at sufficiently high acute doses. While there are many potential causes of bronchiolar lesions involved in a variety of chronic lung diseases, failure to clearly define the clinical features and pathological characteristics can lead to ambiguous diagnoses. Irritant gases known to cause BO follow a similar pathologic process and time course of disease onset in humans. Studies of inhaled irritant gases known to cause BO (e.g., chlorine, hydrochloric acid, ammonia, nitrogen oxides, sulfur oxides, sulfur or nitrogen mustards, and phosgene indicate that the time course between causal chemical exposures and development of clinically significant BO disease is typically limited to a few months. The mechanism of toxic action exerted by these irritant gases generally involves widespread and severe injury of the epithelial lining of the bronchioles that leads to acute respiratory symptoms which can include lung edema within days. Repeated exposures to inhaled irritant gases at concentrations insufficient to cause marked respiratory distress or edema may lead to adaptive responses that can reduce or prevent severe bronchiolar fibrotic changes. Risk of BO from irritant gases is driven substantially by toxicokinetics affecting concentrations occurring at the bronchiolar epithelium. Highly soluble irritant gases that cause BO like ammonia generally follow a threshold-dependent cytotoxic mechanism of action that at sufficiently high doses results in severe inflammation of the upper respiratory tract and the bronchiolar epithelium concurrently. This is followed by acute respiratory distress, pulmonary edema, and post inflammatory concentric fibrosis that become clinically obvious within a few months. In contrast, irritant gases with lower solubility like phosgene also follow a threshold-dependent mechanism

  17. Hypothyroidism-induced Reversible Encephalopathy as a Cause of Aggravation of Parkinsonism and Myoclonus in Parkinson's Disease.

    Ehm, Gwanhee; Kim, Han-Joon; Jeon, Beomseok

    2017-01-01

    Myoclonus and encephalopathy are unusual in patients with Parkinson's disease (PD). We describe the case of a 59-year-old male with PD who developed myoclonus and encephalopathy. Underlying hypothyroidism was revealed after admission and treated with levothyroxine. Myoclonus and encephalopathy were completely resolved following thyroid hormone replacement. Hypothyroidism can cause reversible myoclonus and encephalopathy along with unusual aggravation of parkinsonism symptoms in patients with PD.

  18. Increased Mortality in Schizophrenia Due to Cardiovascular Disease – A Non-Systematic Review of Epidemiology, Possible Causes, and Interventions

    Ringen, Petter Andreas; Engh, John A.; Birkenaes, Astrid B.; Dieset, Ingrid; Andreassen, Ole A.

    2014-01-01

    Background: Schizophrenia is among the major causes of disability worldwide and the mortality from cardiovascular disease (CVD) is significantly elevated. There is a growing concern that this health challenge is not fully understood and efficiently addressed. Methods: Non-systematic review using searches in PubMed on relevant topics as well as selection of references based on the authors’ experience from clinical work and research in the field. Results: In most countries, the standardiz...

  19. A rare cause of facial nerve palsy in children : Hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review

    van Egmond, M. E.; Dikkers, F. G.; Boot, A. M.; van Lierop, A. H. J. M.; Papapoulos, S. E.; Brouwer, O. F.

    2012-01-01

    Differential diagnosis of facial nerve palsy in children is extensive. We report on three pediatric cases presenting with facial nerve palsy caused by hyperostosis corticalis generalisata (Van Buchem disease). This autosomal recessive disease is characterized by progressive bone overgrowth, with

  20. [Analysis in pulmonary ventilatory function from 100 patients with ano-rectal diseases caused by deficiency of qi].

    Wang, W

    1999-03-01

    To explore the pathogenesis of ano-rectal diseases caused by deficiency of Qi, which is correlated with obstruction of pulmonary ventilation. The pulmonary ventilatory function was measured in 100 patients with the internal piles, the interno-external hemorrhoid and prolapse of rectum, the prolapse of anus was the principal symptom of them. Data from the 100 patients showed that 67% of them were diagnosed with the obstruction of pulmonary ventilation, the ratio was far less in the health control group. FEV 1.0 (mean +/- s) (2011.65 +/- 875) ml, MMF (1.84 +/- 1.24) L/s and PEF (2.34 +/- 1.51) L/s in male patients, (1551.54 +/- 514) ml, (1.57 +/- 0.62) L/s and (1.85 +/- 0.92) L/s in female patients, but those values were higher in the control than in the patients. The statistical analysis was performed and the difference was significant between patients and the control group (P < 0.01). The patients with ano-rectal diseases caused by deficiency of Qi accompanied with obstruction of pulmonary ventilation in different degree and varied sorts, it confirmed that the pathogenesis of ano-rectal diseases caused by deficiency of Qi is related with "sinking of pectoral Qi".

  1. Pulmonary fibrosis secondary to siderosis causing symptomatic respiratory disease: a case report.

    McCormick, Liam M; Goddard, Martin; Mahadeva, Ravi

    2008-08-05

    Pulmonary siderosis secondary to the inhalation of iron compounds is a rare condition which, despite striking radiological and histopathological features, has not traditionally been associated with symptoms or functional impairment. Although not the first of its kind, we present an unusual case of pulmonary siderosis with symptomatic respiratory disease, most likely secondary to associated fibrosis. A 66-year-old Caucasian man was referred to the outpatient clinic with a 2-year history of exertional breathlessness. He had worked as an engineer for 20 years where he did a significant amount of welding but always wore a face shield. Clinical, radiological and histological features were consistent with a diagnosis of pulmonary siderosis, with associated fibrosis, most likely related to his occupational welding history. Our report illustrates that symptomatic respiratory disease due to mild peribronchiolar fibrosis can occur with pulmonary siderosis despite wearing a mask. Furthermore, it reinforces the need for all clinicians to compile a detailed occupational history in individuals presenting with breathlessness.

  2. Legionnaires' Disease Outbreak Caused by Endemic Strain of Legionella pneumophila, New York, New York, USA, 2015.

    Lapierre, Pascal; Nazarian, Elizabeth; Zhu, Yan; Wroblewski, Danielle; Saylors, Amy; Passaretti, Teresa; Hughes, Scott; Tran, Anthony; Lin, Ying; Kornblum, John; Morrison, Shatavia S; Mercante, Jeffrey W; Fitzhenry, Robert; Weiss, Don; Raphael, Brian H; Varma, Jay K; Zucker, Howard A; Rakeman, Jennifer L; Musser, Kimberlee A

    2017-11-01

    During the summer of 2015, New York, New York, USA, had one of the largest and deadliest outbreaks of Legionnaires' disease in the history of the United States. A total of 138 cases and 16 deaths were linked to a single cooling tower in the South Bronx. Analysis of environmental samples and clinical isolates showed that sporadic cases of legionellosis before, during, and after the outbreak could be traced to a slowly evolving, single-ancestor strain. Detection of an ostensibly virulent Legionella strain endemic to the Bronx community suggests potential risk for future cases of legionellosis in the area. The genetic homogeneity of the Legionella population in this area might complicate investigations and interpretations of future outbreaks of Legionnaires' disease.

  3. Celiac disease as a potential cause of idiopathic portal hypertension: a case report

    Zamani Farhad

    2009-02-01

    Full Text Available Abstract Introduction Idiopathic portal hypertension is a disorder of unknown etiology, clinically characterized by portal hypertension, splenomegaly and anemia secondary to hypersplenism. Case presentation A 54-year-old man was admitted to our hospital for evaluation of malaise, weight loss, abdominal swelling and lower limb edema. His paraclinical tests revealed pancytopenia, large ascites, splenomegaly and esophageal varices consistent with portal hypertension. Duodenal biopsy and serologic findings were compatible with celiac disease. His symptoms improved on a gluten-free diet, but his clinical course was further complicated with ulcerative jejunoileitis, and intestinal T-cell lymphoma. Conclusion It seems that celiac disease, by an increased immune reaction in the splenoportal axis, can result in the development of idiopathic portal hypertension in susceptible affected patients.

  4. Full-genome analysis of a canine pneumovirus causing acute respiratory disease in dogs, Italy.

    Nicola Decaro

    Full Text Available An outbreak of canine infectious respiratory disease (CIRD associated to canine pneumovirus (CnPnV infection is reported. The outbreak occurred in a shelter of the Apulia region and involved 37 out of 350 dogs that displayed cough and/or nasal discharge with no evidence of fever. The full-genomic characterisation showed that the causative agent (strain Bari/100-12 was closely related to CnPnVs that have been recently isolated in the USA, as well as to murine pneumovirus, which is responsible for respiratory disease in mice. The present study represents a useful contribution to the knowledge of the pathogenic potential of CnPnV and its association with CIRD in dogs. Further studies will elucidate the pathogenicity and epidemiology of this novel pneumovirus, thus addressing the eventual need for specific vaccines.

  5. Anti-E Alloimmunization: A Rare Cause of Severe Fetal Hemolytic Disease Resulting in Pregnancy Loss

    An-Shine Chao

    2009-01-01

    Full Text Available We report a case of severe intrauterine hemolysis caused by sole anti-E alloimmunization. A 36-year-old multipara woman presented with hydrops fetalis at 27 weeks of gestation. She had a history of previous neonatal death. In this pregnancy, she was found to have very high titer of anti-E antibody. Ultrasonography detected marked skin edema, cardiomegaly, hepatosplenomegaly, pleural effusion, ascites, placentomegaly, and polyhydramnios. The Doppler peak systolic velocity in the middle cerebral artery was 0.8 m/s, indicating severe fetal anemia. Multiple intrauterine transfusions for the anemic fetus were administered. However, persistent severe fetal anemia and placentomegaly caused poor neonatal death and mirror syndrome in the mother. Uncommon red blood cell alloimmunization has to be watched for early in any population, especially in a woman with a history of unexplained perinatal loss.

  6. Characterization of Species of Cladobotryum which Cause Cobweb Disease in Edible Mushrooms Grown in Korea

    Back, Chang-Gi; Lee, Chang-Yun; Seo, Geon-Sik; Jung, Hee-Young

    2012-01-01

    Four Cladobotryum isolates were collected from four different commercially grown mushroom types infected with cobweb disease in Cheongdo-gun and Chilgok-gun of Gyeongbuk Province, Korea in 2010. The isolates were identified as C. mycophilum from Agaricus bisporus and Pleurotus eryngii, C. varium from Flammulina velutipes and Hypsizygus marmoreus. The cultural characteristics of the four isolates were investigated using potato dextrose agar (PDA) media under nine different temperatures ranging...

  7. Dietary estrogens--a probable cause of infertility and liver disease in captive cheetahs.

    Setchell, K D; Gosselin, S J; Welsh, M B; Johnston, J O; Balistreri, W F; Kramer, L W; Dresser, B L; Tarr, M J

    1987-08-01

    The cheetah in the wild is "racing towards extinction" mostly due to habitat destruction. Its survival will probably depend on accelerated captive breeding. At this time, however, reproductive failure and liver disease threaten the future of the captive cheetah population. Histopathological evaluation of more than 100 cheetah livers identified venocclusive disease as the main hepatic lesion responsible for liver disease in this species. Analysis of the commercial feline diet by high-performance liquid chromatography and gas-liquid chromatography-mass spectrometry revealed large amounts of two phytoestrogens identified as daidzein and genistein. These compounds were found to be derived from a soybean product that was a component of the cheetah diet, and their concentrations both ranged from 18 to 35 micrograms/g diet. The adult cheetah consequently consumes approximately 50 mg/day of these weak estrogens. When extracts of the diet were tested for estrogenicity using a bioassay, a dose-related increase in uterine weight was observed. In 4 cheetahs studied, withdrawal of this feline diet by substitution with a chicken diet resulted in an improvement in conventional liver function tests and a normalization in the appearance of hepatic mitochondria. We conclude that the relatively high concentrations of phytoestrogens from soybean protein present in the commercial diet fed to captive cheetahs in North American zoos may be one of the major factors in the decline of fertility and in the etiology of liver disease in this species. The survival of the captive cheetah population could depend upon a simple change of diet by excluding exogenous estrogen.

  8. Is the increase in allergic respiratory disease caused by a cohort effect?

    Linneberg, A; Nielsen, N H; Madsen, F

    2002-01-01

    -sectional studies have shown that the prevalence of allergic sensitization decreases with increasing age. This could reflect the natural course of allergic sensitization. Alternatively, this could reflect that the increase in sensitization is caused by a cohort effect, i.e. an increase among subjects born during...... by a cohort effect. Thus, changes in lifestyle or environmental factors that occurred around or after 1960 may have contributed to this increase....

  9. MANAGEMENT OF ENDOCRINE DISEASE: Subclinical thyrotoxicosis: prevalence, causes and choice of therapy.

    Carlé, Allan; Andersen, Stine Linding; Boelaert, Kristien; Laurberg, Peter

    2017-06-01

    Subclinical thyrotoxicosis is a condition affecting up to 10% of the population in some studies. We have reviewed literature and identified studies describing prevalences, causes and outcomes of this condition. Treatment should be considered in all subjects if this biochemical abnormality is persistent, especially in case of symptoms of thyrotoxicosis or in the presence of any complication. In particular, treatment should be offered in those subclinically thyrotoxic patients with a sustained serum TSH below 0.1 U/L. However it is important to recognise that there are no large controlled intervention studies in the field and thus there is no high quality evidence to guide treatment recommendations. In particular, there is no evidence for therapy and there is weak evidence of harm from thyrotoxicosis if serum TSH is in the 0.1-0.4 IU/L range. In this review, we describe the different causes of subclinical thyrotoxicosis, and how treatment should be tailored to the specific cause. We advocate radioactive iodine treatment to be the first-line treatment in majority of patients suffering from subclinical thyrotoxicosis due to multinodular toxic goitre and solitary toxic adenoma, but we do generally not recommend it as the first-line treatment in patients suffering from subclinical Graves' hyperthyroidism. Such patients may benefit mostly from antithyroid drug therapy. Subclinical thyrotoxicosis in early pregnancy should in general be observed, not treated. Moreover, we advocate a general restriction of therapy in cases where no specific cause for the presumed thyroid hyperactivity has been proven. © 2017 European Society of Endocrinology.

  10. Oxidative Stress and Metabolic Syndrome: Cause or Consequence of Alzheimer's Disease?

    Diana Luque-Contreras

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is a major neurodegenerative disease affecting the elderly. Clinically, it is characterized by a progressive loss of memory and cognitive function. Neuropathologically, it is characterized by the presence of extracellular β-amyloid (Aβ deposited as neuritic plaques (NP and neurofibrillary tangles (NFT made of abnormal and hyperphosphorylated tau protein. These lesions are capable of generating the neuronal damage that leads to cell death and cognitive failure through the generation of reactive oxygen species (ROS. Evidence indicates the critical role of Aβ metabolism in prompting the oxidative stress observed in AD patients. However, it has also been proposed that oxidative damage precedes the onset of clinical and pathological AD symptoms, including amyloid-β deposition, neurofibrillary tangle formation, vascular malfunction, metabolic syndrome, and cognitive decline. This paper provides a brief description of the three main proteins associated with the development of the disease (Aβ, tau, and ApoE and describes their role in the generation of oxidative stress. Finally, we describe the mitochondrial alterations that are generated by Aβ and examine the relationship of vascular damage which is a potential prognostic tool of metabolic syndrome. In addition, new therapeutic approaches targeting ROS sources and metabolic support were reported.

  11. Does football cause an increase in degenerative disease of the lumbar spine?

    Gerbino, Peter G; d'Hemecourt, Pierre A

    2002-02-01

    Degenerative disease of the lumbar spine is exceedingly common. Whether any specific activity increases the likelihood of developing degenerative disc disease (DDD) or facet degeneration (FD) has enormous implications. Within the field of occupational medicine there are specific activities, occupations, and morphologic characteristics that have been related to low back pain. Several specific risk factors have been conclusively linked to low back pain, and in particular DDD and FD. Within the sport of American football, there has long been the feeling that many athletes have or will develop low back pain, DDD, and FD. Proving that certain risk factors present in football will predictably lead to an increase in LBP, DDD, and FD is more difficult. At this time, it can be said that football players, in general, increase their risk of developing low back pain, DDD, and FD as their years of involvement with their sport increase. Because specific spine injuries like fracture, disc herniation, and spondylolysis are more frequent in football players, the resulting DDD and FD are greater than that of the general population. The weightlifting and violent hyperextension that are part of American football are independent risk factors for degenerative spine disease.

  12. Endemic chronic wasting disease causes mule deer population decline in Wyoming.

    Melia T DeVivo

    Full Text Available Chronic wasting disease (CWD is a fatal transmissible spongiform encephalopathy affecting white-tailed deer (Odocoileus virginianus, mule deer (Odocoileus hemionus, Rocky Mountain elk (Cervus elaphus nelsoni, and moose (Alces alces shirasi in North America. In southeastern Wyoming average annual CWD prevalence in mule deer exceeds 20% and appears to contribute to regional population declines. We determined the effect of CWD on mule deer demography using age-specific, female-only, CWD transition matrix models to estimate the population growth rate (λ. Mule deer were captured from 2010-2014 in southern Converse County Wyoming, USA. Captured adult (≥ 1.5 years old deer were tested ante-mortem for CWD using tonsil biopsies and monitored using radio telemetry. Mean annual survival rates of CWD-negative and CWD-positive deer were 0.76 and 0.32, respectively. Pregnancy and fawn recruitment were not observed to be influenced by CWD. We estimated λ = 0.79, indicating an annual population decline of 21% under current CWD prevalence levels. A model derived from the demography of only CWD-negative individuals yielded; λ = 1.00, indicating a stable population if CWD were absent. These findings support CWD as a significant contributor to mule deer population decline. Chronic wasting disease is difficult or impossible to eradicate with current tools, given significant environmental contamination, and at present our best recommendation for control of this disease is to minimize spread to new areas and naïve cervid populations.

  13. Could Buerger's disease cause nonarteritic anterior ischemic optic neuropathy?: a rare case report.

    Korkmaz, Anil; Karti, Omer; Top Karti, Dilek; Yüksel, Bora; Zengin, Mehmet Ozgur; Kusbeci, Tuncay

    2018-04-05

    We present an interesting case with nonarteritic anterior ischemic optic neuropathy (NAION) accompanied by Buerger's disease. A 43-year-old man was referred to our neuro-ophthalmology clinic with a complaint of visual deterioration in the left eye that started 5 days ago. He suffered from Buerger's disease, and he had acute pain in the right lower limb below the knee. His best corrected visual acuity was 10/10 in the right eye and 2/10 in the left eye by Snellen chart. There was a relative afferent pupil defect in the left eye. The right optic disc was normal on fundus examination, and blurring, hemorrhagic swelling was found at the left optic disc. Inferior altitudinal visual field defect was observed in the left eye. Neurological examination was normal. Computed tomography angiography scan revealed occlusion in the right posterior tibial artery. Brain imaging and laboratory tests such as blood analyses, genetic screening, coagulation, and lipid panels were unremarkable. NAION may occur in patients with Buerger's disease, but it is extremely rare. Therefore, clinicians should be aware of this rare association.

  14. Hypercholesterolemia Causes Circadian Dysfunction: A Potential Risk Factor for Cardiovascular Disease

    Makoto Akashi

    2017-06-01

    Full Text Available Hypercholesterolemia is a well-known risk factor for a wide range of diseases in developed countries. Here, we report that mice lacking functional LDLR (low density lipoprotein receptor, an animal model of human familial hypercholesterolemia, show circadian abnormalities. In free running behavioral experiments in constant darkness, these mice showed a prolonged active phase and distinctly bimodal rhythms. Even when the circadian rhythms were entrained by light and dark cycles, these mice showed a significant attenuation of behavioral onset intensity at the start of the dark period. Further, we hypothesized that the combination of hypercholesterolemia and circadian abnormalities may affect cardiovascular disease progression. To examine this possibility, we generated LDLR-deficient mice with impaired circadian rhythms by simultaneously introducing a mutation into Period2, a core clock gene, and found that these mice showed a significant enlargement of artery plaque area with an increase in inflammatory cytokine IL-6 levels. These results suggest that circadian dysfunction may be associated with the development or progression of cardiovascular diseases.

  15. An Emerging Tick-Borne Disease of Humans Is Caused by a Subset of Strains with Conserved Genome Structure

    Barbet, Anthony F.; Al-Khedery, Basima; Stuen, Snorre; Granquist, Erik G.; Felsheim, Roderick F.; Munderloh, Ulrike G.

    2013-01-01

    The prevalence of tick-borne diseases is increasing worldwide. One such emerging disease is human anaplasmosis. The causative organism, Anaplasma phagocytophilum, is known to infect multiple animal species and cause human fatalities in the U.S., Europe and Asia. Although long known to infect ruminants, it is unclear why there are increasing numbers of human infections. We analyzed the genome sequences of strains infecting humans, animals and ticks from diverse geographic locations. Despite extensive variability amongst these strains, those infecting humans had conserved genome structure including the pfam01617 superfamily that encodes the major, neutralization-sensitive, surface antigen. These data provide potential targets to identify human-infective strains and have significance for understanding the selective pressures that lead to emergence of disease in new species. PMID:25437207

  16. A pediatric case with peripheral facial nerve palsy caused by a granulomatous lesion associated with cat scratch disease.

    Nakamura, Chizuko; Inaba, Yuji; Tsukahara, Keiko; Mochizuki, Mie; Sawanobori, Emi; Nakazawa, Yozo; Aoyama, Kouki

    2018-02-01

    Cat scratch disease is a common infectious disorder caused by Bartonella henselae that is transmitted primarily by kittens. It typically exhibits a benign and self-limiting course of subacute regional lymphadenopathy and fever lasting two to eight weeks. The most severe complication of cat scratch disease is involvement of the nervous system, such as encephalitis, meningitis, and polyneuritis. Peripheral facial nerve palsy associated with Bartonella infection is rare; few reported pediatric and adult cases exist and the precise pathogenesis is unknown. A previously healthy 7-year-old boy presented with fever, cervical lymphadenopathy, and peripheral facial nerve palsy associated with serologically confirmed cat scratch disease. The stapedius muscle reflex was absent on the left side and brain magnetic resonance imaging revealed a mass lesion at the left internal auditory meatus. The patient's symptoms and imaging findings were gradually resolved after the antibiotics and corticosteroids treatment. The suspected granulomatous lesion was considered to have resulted from the host's immune reaction to Bartonella infection and impaired the facial nerve. This is the first case report providing direct evidence of peripheral facial nerve palsy caused by a suspected granulomatous lesion associated with cat scratch disease and its treatment course. Copyright © 2017. Published by Elsevier B.V.

  17. Effect of medicinal plants extracts on the incidence of mosaic disease caused by cucumber mosaic virus and growth of chili

    Hamidson, H.; Damiri, N.; Angraini, E.

    2018-01-01

    This research was conducted to study the effect of the application of several extracts of medicinal plants on the incidence of mosaic disease caused by Cucumber Mosaic Virus infection on the chili (Capsicum annuum L.) plantation. A Randomized Block Design with eight treatments including control was used throughout the experiment. Treatments consisted of Azadiracta indica (A), Piper bitle (B), Cymbopogon citrates (C), Curcuma domestica (D), Averroa bilimbi (E), Datura stramonium (F), Annona Muricata (G) and control (H). Each treatment consist of three replications. The parameters observed were the incidence of mosaic attack due to CMV, disease severity, plant height, wet and dry weight and production (number of fruits and the weight of total fruits) each plant. Results showed that the application of medicinal plant extracts reduced the disease severity due to CMV. Extracts of Annona muricata and Datura stramonium were most effective in suppressing disease severity caused by the virus as they significantly different from control and from a number of treatment. The plants medicinal extracts were found to have increased the plant height and total weight of the plant, fruit amount and fruit weight. Extracts of Curcuma domestica, Piper bitle and Cymbopogon citrates were the third highest in fruit amount and weight and significantly different from the control.

  18. Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

    Kulshrestha, R; Burton-Jones, S; Antoniadi, T; Rogers, M; Jaunmuktane, Z; Brandner, S; Kiely, N; Manuel, R; Willis, T

    2017-08-01

    X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c.-5413 to approximately - c.-49. This matches the sequence of 32 nucleotides at positions c.*218-*249 in the 3'UTR downstream of the GJB1 gene. The deleted fragment included the entire P2 promoter region. The deletion segregated with the disease. To our knowledge a deletion of the P2 promoter alone as a cause of CMT has not been reported previously. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Frequency and Cause of Persistent Symptoms in Celiac Disease Patients on a Long-term Gluten-free Diet.

    Stasi, Elisa; Marafini, Irene; Caruso, Roberta; Soderino, Federica; Angelucci, Erika; Del Vecchio Blanco, Giovanna; Paoluzi, Omero A; Calabrese, Emma; Sedda, Silvia; Zorzi, Francesca; Pallone, Francesco; Monteleone, Giovanni

    2016-03-01

    To estimate the frequency and cause of nonresponsive celiac disease (CD). Treatment of CD is based on life-long adherence to a gluten-free diet (GFD). Some celiac patients experience persistence of symptoms despite a GFD. This condition is defined as nonresponsive CD. Celiac patients on a GFD for at least 12 months underwent diet compliance assessment, laboratory tests, breath tests, endoscopic, and histologic evaluations according to the symptoms/signs reported. Seventy of 321 (21.8%) patients had persistent or recurrent symptoms/signs. The cause of symptom persistence was evaluated in 56 of 70 patients. Thirteen of 56 (23%) patients were antiendomysial antibody positive. Among the patients with negative serology, 1 had fibromyalgia, and 3 had evidence that disproved the diagnosis of CD. The remaining 39 patients with negative serology underwent duodenal biopsy sampling, which evidenced histologic alterations in 24 patients. Among the 15 patients with normal histology 3 were lactose intolerant, 9 had irritable bowel syndrome, 2 had gastroesophageal reflux disease, and in 1 patient a cause for the persistent symptom was not identified. In patients with confirmed diagnosis of CD, exposure to dietary gluten was the main cause of persistence of symptoms/signs, and consistently after dietary modification, symptoms resolved in 63% of the patients at later time points during follow-up. Nonresponsive CD occurs in nearly one fifth of celiac patients on GFD and its occurrence suggests further investigations to optimize the management of celiac patients.

  20. Hemolytic disease of the newborn caused by anti-Wright (anti-Wra): case report and review of literature.

    Squires, Amanda; Nasef, Nehad; Lin, Yulia; Callum, Jeannie; Khadawardi, Emad M; Drolet, Christine; Core, David; Simmons, Brian

    2012-01-01

    Antibodies to red cell antigens that are found at low frequency in the general population are rare causes of hemolytic disease of the newborn. To understand how to detect these cases, we provide a basic review of routine antenatal maternal antibody testing and report a case of a neonate with severe HDN caused by anti-Wright (anti-Wra), successfully managed with transfusion, phototherapy, and high-dose intravenous immunoglobulin. When hemolysis in a newborn is suspected in the absence of major blood group incompatibility or commonly detected maternal red cell antibodies, a direct antiglobulin test should be performed. A positive DAT should alert the clinician to the presence of maternal antibodies against low-incidence antigens. Antibodies to the Wra antigen are one such rare cause of HDN.

  1. Experimental Infection of Snakes with Ophidiomyces ophiodiicola Causes Pathological Changes That Typify Snake Fungal Disease.

    Lorch, Jeffrey M; Lankton, Julia; Werner, Katrien; Falendysz, Elizabeth A; McCurley, Kevin; Blehert, David S

    2015-11-17

    Snake fungal disease (SFD) is an emerging skin infection of wild snakes in eastern North America. The fungus Ophidiomyces ophiodiicola is frequently associated with the skin lesions that are characteristic of SFD, but a causal relationship between the fungus and the disease has not been established. We experimentally infected captive-bred corn snakes (Pantherophis guttatus) in the laboratory with pure cultures of O. ophiodiicola. All snakes in the infected group (n = 8) developed gross and microscopic lesions identical to those observed in wild snakes with SFD; snakes in the control group (n = 7) did not develop skin infections. Furthermore, the same strain of O. ophiodiicola used to inoculate snakes was recovered from lesions of all animals in the infected group, but no fungi were isolated from individuals in the control group. Monitoring progression of lesions throughout the experiment captured a range of presentations of SFD that have been described in wild snakes. The host response to the infection included marked recruitment of granulocytes to sites of fungal invasion, increased frequency of molting, and abnormal behaviors, such as anorexia and resting in conspicuous areas of enclosures. While these responses may help snakes to fight infection, they could also impact host fitness and may contribute to mortality in wild snakes with chronic O. ophiodiicola infection. This work provides a basis for understanding the pathogenicity of O. ophiodiicola and the ecology of SFD by using a model system that incorporates a host species that is easy to procure and maintain in the laboratory. Skin infections in snakes, referred to as snake fungal disease (SFD), have been reported with increasing frequency in wild snakes in the eastern United States. While most of these infections are associated with the fungus Ophidiomyces ophiodiicola, there has been no conclusive evidence to implicate this fungus as a primary pathogen. Furthermore, it is not understood why the

  2. Endemic chronic wasting disease causes mule deer population decline in Wyoming

    DeVivo, Melia T.; Edmunds, David R.; Kauffman, Matthew J.; Schumaker, Brant A.; Binfet, Justin; Kreeger, Terry J.; Richards, Bryan J.; Schatzl, Hermann M.; Cornish, Todd

    2017-01-01

    Chronic wasting disease (CWD) is a fatal transmissible spongiform encephalopathy affecting white-tailed deer (Odocoileus virginianus), mule deer (Odocoileus hemionus), Rocky Mountain elk (Cervus elaphus nelsoni), and moose (Alces alces shirasi) in North America. In southeastern Wyoming average annual CWD prevalence in mule deer exceeds 20% and appears to contribute to regional population declines. We determined the effect of CWD on mule deer demography using age-specific, female-only, CWD transition matrix models to estimate the population growth rate (λ). Mule deer were captured from 2010–2014 in southern Converse County Wyoming, USA. Captured adult (≥ 1.5 years old) deer were tested ante-mortem for CWD using tonsil biopsies and monitored using radio telemetry. Mean annual survival rates of CWD-negative and CWD-positive deer were 0.76 and 0.32, respectively. Pregnancy and fawn recruitment were not observed to be influenced by CWD. We estimated λ= 0.79, indicating an annual population decline of 21% under current CWD prevalence levels. A model derived from the demography of only CWD-negative individuals yielded; λ = 1.00, indicating a stable population if CWD were absent. These findings support CWD as a significant contributor to mule deer population decline. Chronic wasting disease is difficult or impossible to eradicate with current tools, given significant environmental contamination, and at present our best recommendation for control of this disease is to minimize spread to new areas and naïve cervid populations.

  3. Antimicrobial Susceptibility of Bacteria That Cause Bovine Respiratory Disease Complex in Alberta, Canada

    R. Michele Anholt

    2017-12-01

    Full Text Available Bovine respiratory disease (BRD is the most important illness of feedlot cattle. Disease management targets the associated bacterial pathogens, Mannheimia haemolytica, Mycoplasma bovis, Pasteurella multocida, Histophilus somni, and Trueperella pyogenes. We conducted a cross-sectional study to measure the frequencies of antimicrobial-resistant BRD pathogens using a collaborative network of veterinarians, industry, government, and a diagnostic laboratory. Seven private veterinary practices in southern Alberta collected samples from both living and dead BRD-affected animals at commercial feedlots. Susceptibility testing of 745 isolates showed that 100% of the M. haemolytica, M. bovis, P. multocida, and T. pyogenes isolates and 66.7% of the H. somni isolates were resistant to at least one antimicrobial class. Resistance to macrolide antimicrobials (90.2% of all isolates was notable for their importance to beef production and human medicine. Multidrug resistance (MDR was high in all target pathogens with 47.2% of the isolates resistant to four or five antimicrobial classes and 24.0% resistance to six to nine classes. We compared the MDR profiles of isolates from two feedlots serviced by different veterinary practices. Differences in the average number of resistant classes were found for M. haemolytica (p < 0.001 and P. multocida (p = 0.002. Compared to previous studies, this study suggests an increasing trend of resistance in BRD pathogens against the antimicrobials used to manage the disease in Alberta. For the veterinary clinician, the results emphasize the importance of ongoing susceptibility testing of BRD pathogens to inform treatment protocols. Surveillance studies that collect additional epidemiological information and manage sampling bias will be necessary to develop strategies to limit the spread of resistance.

  4. Association of Anxiety and Depression With All‐Cause Mortality in Individuals With Coronary Heart Disease

    Watkins, Lana L.; Koch, Gary G.; Sherwood, Andrew; Blumenthal, James A.; Davidson, Jonathan R.T.; O'Connor, Christopher; Sketch, Michael H.

    2013-01-01

    Background Depression has been related to mortality in coronary heart disease (CHD) patients, but few studies have evaluated the role of anxiety or the role of the co‐occurrence of depression and anxiety. We examined whether anxiety is associated with increased risk of mortality after accounting for depression in individuals with established CHD. Methods and Results The cohort was composed of 934 men and women with confirmed CHD (mean age, 62±11 years) who completed the Hospital Anxiety and Depression scale (HADS) during hospitalization for coronary angiography. Over the 3‐year follow‐up period, there were 133 deaths. Elevated scores on the HADS anxiety subscale (HADS‐A≥8) were associated with increased risk of mortality after accounting for established risk factors including age, congestive heart failure, left ventricular ejection fraction, 3‐vessel disease, and renal disease (hazard ratio [HR], 2.27; 95% CI, 1.55 to 3.33; Pdepression subscale (HADS‐D≥8) were also associated with increased risk of mortality (HR, 2.18; 95% CI, 1.47 to 3.22; Panxiety, HR, 1.83; 95% CI, 1.18 to 2.83; P=0.006; depression, HR, 1.66; 95% CI, 1.06 to 2.58; P=0.025). Estimation of the HR for patients with both anxiety and depression versus those with neither revealed a larger HR than for patients with either factor alone (HR, 3.10; 95% CI, 1.95 to 4.94; PAnxiety is associated with increased risk of mortality in CHD patients, particularly when comorbid with depression. Future studies should focus on the co‐occurrence of these psychosocial factors as markers of increased mortality risk. PMID:23537805

  5. Myeloproliferative Disease: An Unusual Cause of Raynaud’s Phenomenon and Digital Ischaemia

    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 ...

  6. Small bowel obstruction caused by peritoneal immunoglobulin G4-related disease mimicking carcinomators: Case report

    Coulier, Bruno; Montfort, Luc; Pierard, Frederic [Clinique St. Luc, Bouge (Belgium); Beniuga, Gabrique; Gielen, Lsabelle [Institute of Pathology and Genetics, Gosselies (Belgium)

    2014-02-15

    We hereby report a case of diffuse pelvic peritoneal involvement by immunoglobulin G4-related disease (IgG4-RD). Numerous pelvic masses and nodules showing delayed enhancement on enhanced abdominal CT were found to congregate in the pelvic organs of a 57-year-old female presenting with intestinal subocclusion. The differentiation between peritoneal IgG4-RD and pelvic peritoneal carcinomatosis was only made by histopathology and immunohistochemistry performed after surgical resection. Autoimmune pancreatitis represents the historical prototype of IgG4-RD, but the spectrum of manifestations involving various organs has expanded during the last decade. In this report, we shortly review this clinical entity.

  7. Small bowel obstruction caused by peritoneal immunoglobulin G4-related disease mimicking carcinomators: Case report

    Coulier, Bruno; Montfort, Luc; Pierard, Frederic; Beniuga, Gabrique; Gielen, Lsabelle

    2014-01-01

    We hereby report a case of diffuse pelvic peritoneal involvement by immunoglobulin G4-related disease (IgG4-RD). Numerous pelvic masses and nodules showing delayed enhancement on enhanced abdominal CT were found to congregate in the pelvic organs of a 57-year-old female presenting with intestinal subocclusion. The differentiation between peritoneal IgG4-RD and pelvic peritoneal carcinomatosis was only made by histopathology and immunohistochemistry performed after surgical resection. Autoimmune pancreatitis represents the historical prototype of IgG4-RD, but the spectrum of manifestations involving various organs has expanded during the last decade. In this report, we shortly review this clinical entity.

  8. Left atrial myxoma, ruptured chordae tendinae causing mitral regurgitation and coronary artery disease

    Bhupesh Kumar

    2014-01-01

    Full Text Available Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma.

  9. Study To Build Method For Analyzing Some Component Of Airborne Which Cause Respiratory Disease

    Vo Thi Anh; Nguyen Thuy Binh; Vuong Thu Bac; Ha Lan Anh; Nguyen Hong Thinh; Duong Van Thang; Nguyen Mai Anh; Vo Tuong Hanh

    2013-01-01

    Aerosol sampler is located at the top of the three floors building of INST. The amount of PM particle and components such as black carbon; chemical elements; violated organic compounds and microorganisms are analyzed by appropriate methods. Using the method of regression and analysis of variance ANOVA to find out correlation between there pollution components and patients treated at the Department of Respiratory in Hanoi E-Hospital. It shown that microorganisms, benzene, toluene, element sulfur and element silica have effects on monthly number of patients treated respiratory diseases at the E-Hospital. (author)

  10. Possible Function of Molecular Chaperones in Diseases Caused by Propagating Amyloid Aggregates

    Vladimir F. Lazarev

    2017-05-01

    Full Text Available The vast majority of neurodegenerative pathologies stem from the formation of toxic oligomers and aggregates composed of wrongly folded proteins. These protein complexes can be released from pathogenic cells and enthralled by other cells, causing the formation of new aggregates in a prion-like manner. By this mechanism, migrating complexes can transmit a disorder to distant regions of the brain and promote gradually transmitting degenerative processes. Molecular chaperones can counteract the toxicity of misfolded proteins. In this review, we discuss recent data on the possible cytoprotective functions of chaperones in horizontally transmitting neurological disorders.

  11. Antro-duodenal tuberculosis causing gastric outlet obstruction--a rare presentation of a protean disease.

    Gheorghe, Liana; Băncilă, Ion; Gheorghe, Cristian; Herlea, Vlad; Vasilescu, Cătălin; Aposteanu, Gabriela

    2002-06-01

    Gastroduodenal tuberculosis is a rare location of abdominal tuberculosis. It usually occurs secondary to pulmonary tuberculosis. We report a case of a 63-year-old woman admitted to the referral center for symptoms of upper gastrointestinal obstruction caused by ulcerohypertrophic antroduodenal tuberculosis. The lesion was misdiagnosed as malignancy at endoscopy. Even at surgery, the lesion was considered gastric cancer and imposed an oncologic resection. The diagnosis was established in the presence of giant-cell granulomas with caseating necrosis in the surgical resected specimens. In our case, the rare gastroduodenal location of abdominal tuberculosis occurred as primary tuberculosis, in the absence of other identifiable locations.

  12. [Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].

    Rong, Weining; Chen, Xuejuan; Li, Huiping; Liu, Yani; Sheng, Xunlun

    2014-06-01

    To detect the disease-causing genes of 10 retinitis pigmentosa pedigrees by using exon combined target region capture sequencing chip. Pedigree investigation study. From October 2010 to December 2013, 10 RP pedigrees were recruited for this study in Ningxia Eye Hospital. All the patients and family members received complete ophthalmic examinations. DNA was abstracted from patients, family members and controls. Using exon combined target region capture sequencing chip to screen the candidate disease-causing mutations. Polymerase chain reaction (PCR) and direct sequencing were used to confirm the disease-causing mutations. Seventy patients and 23 normal family members were recruited from 10 pedigrees. Among 10 RP pedigrees, 1 was autosomal dominant pedigrees and 9 were autosomal recessive pedigrees. 7 mutations related to 5 genes of 5 pedigrees were detected. A frameshift mutation on BBS7 gene was detected in No.2 pedigree, the patients of this pedigree combined with central obesity, polydactyly and mental handicap. No.2 pedigree was diagnosed as Bardet-Biedl syndrome finally. A missense mutation was detected in No.7 and No.10 pedigrees respectively. Because the patients suffered deafness meanwhile, the final diagnosis was Usher syndrome. A missense mutation on C3 gene related to age-related macular degeneration was also detected in No. 7 pedigrees. A nonsense mutation and a missense mutation on CRB1 gene were detected in No. 1 pedigree and a splicesite mutation on PROM1 gene was detected in No. 5 pedigree. Retinitis pigmentosa is a kind of genetic eye disease with diversity clinical phenotypes. Rapid and effective genetic diagnosis technology combined with clinical characteristics analysis is helpful to improve the level of clinical diagnosis of RP.

  13. Localized Cystic Disease of the Kidney: A Rare Cause of Hypertension in a Young Adult

    Aynur Solak

    2013-01-01

    Full Text Available Localized cystic disease of kidney (LCDK is a rare, non-familial, non-progressive renal disorder that is not associated with cysts or disorders in other organs. Only a few cases have been reported in the literature. While this condition is morphologically identical to the autosomal dominant form of polycystic kidney disease, it is not inherited and is not associated with significant deterioration of renal function. We present a case of a 16-year-old male patient who suffered from hypertension for over two years. On imaging we found several, variable-sized cysts in the upper half of the right kidney. The left kidney and lower segment of the right kidney were normal. Selective renal vein catheterization and sampling showed markedly elevated renin level in the right upper segmental vein (92 pg/ml, normal value: 11-33 pg/ml. The patient underwent a right upper heminephrectomy and histopathology was suggestive of LCDK. After surgery, the patient′s blood pressure returned to normal levels without any need of antihypertensive medication and he is under follow-up on outpatient basis for the past two years.

  14. Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.

    Koji Hase

    Full Text Available Activation-induced cytidine deaminase (AID expressed by germinal center B cells is a central regulator of somatic hypermutation (SHM and class switch recombination (CSR. Humans with AID mutations develop not only the autosomal recessive form of hyper-IgM syndrome (HIGM2 associated with B cell hyperplasia, but also autoimmune disorders by unknown mechanisms. We report here that AID-/- mice spontaneously develop tertiary lymphoid organs (TLOs in non-lymphoid tissues including the stomach at around 6 months of age. At a later stage, AID-/- mice develop a severe gastritis characterized by loss of gastric glands and epithelial hyperplasia. The disease development was not attenuated even under germ-free (GF conditions. Gastric autoantigen -specific serum IgM was elevated in AID-/- mice, and the serum levels correlated with the gastritis pathological score. Adoptive transfer experiments suggest that autoimmune CD4+ T cells mediate gastritis development as terminal effector cells. These results suggest that abnormal B-cell expansion due to AID deficiency can drive B-cell autoimmunity, and in turn promote TLO formation, which ultimately leads to the propagation of organ-specific autoimmune effector CD4+ T cells. Thus, AID plays an important role in the containment of autoimmune diseases by negative regulation of autoreactive B cells.

  15. Psoriasis-like skin disease and arthritis caused by inducible epidermal deletion of Jun proteins.

    Zenz, Rainer; Eferl, Robert; Kenner, Lukas; Florin, Lore; Hummerich, Lars; Mehic, Denis; Scheuch, Harald; Angel, Peter; Tschachler, Erwin; Wagner, Erwin F

    2005-09-15

    Psoriasis is a frequent, inflammatory disease of skin and joints with considerable morbidity. Here we report that in psoriatic lesions, epidermal keratinocytes have decreased expression of JunB, a gene localized in the psoriasis susceptibility region PSORS6. Likewise, inducible epidermal deletion of JunB and its functional companion c-Jun in adult mice leads (within two weeks) to a phenotype resembling the histological and molecular hallmarks of psoriasis, including arthritic lesions. In contrast to the skin phenotype, the development of arthritic lesions requires T and B cells and signalling through tumour necrosis factor receptor 1 (TNFR1). Prior to the disease onset, two chemotactic proteins (S100A8 and S100A9) previously mapped to the psoriasis susceptibility region PSORS4, are strongly induced in mutant keratinocytes in vivo and in vitro. We propose that the abrogation of JunB/activator protein 1 (AP-1) in keratinocytes triggers chemokine/cytokine expression, which recruits neutrophils and macrophages to the epidermis thereby contributing to the phenotypic changes observed in psoriasis. Thus, these data support the hypothesis that epidermal alterations are sufficient to initiate both skin lesions and arthritis in psoriasis.

  16. Pulmonary fibrosis secondary to siderosis causing symptomatic respiratory disease: a case report

    McCormick Liam M

    2008-08-01

    Full Text Available Abstract Introduction Pulmonary siderosis secondary to the inhalation of iron compounds is a rare condition which, despite striking radiological and histopathological features, has not traditionally been associated with symptoms or functional impairment. Although not the first of its kind, we present an unusual case of pulmonary siderosis with symptomatic respiratory disease, most likely secondary to associated fibrosis. Case presentation A 66-year-old Caucasian man was referred to the outpatient clinic with a 2-year history of exertional breathlessness. He had worked as an engineer for 20 years where he did a significant amount of welding but always wore a face shield. Clinical, radiological and histological features were consistent with a diagnosis of pulmonary siderosis, with associated fibrosis, most likely related to his occupational welding history. Conclusion Our report illustrates that symptomatic respiratory disease due to mild peribronchiolar fibrosis can occur with pulmonary siderosis despite wearing a mask. Furthermore, it reinforces the need for all clinicians to compile a detailed occupational history in individuals presenting with breathlessness.

  17. The Palestinian-Israeli conflict: a disease for which root causes must be acknowledged and treated.

    Abuelaish, Izzeldin; Arya, Neil

    2017-09-01

    Fourth of June 2017 marks a half century of the Six Day War, three decades post the first Intifada, seven decades post the Palestinian Nakba (catastrophe), the 70th anniversary of Israeli Independence, and one century post the Balfour Declaration. Both Palestinians and Israelis remain occupied. Five million Palestinians remain sick with hopelessness and despair rendered by years of subjugation. Israelis are stuck, occupied by their historical narrative and transcendental fears. Over two decades have passed since the Oslo accords, which both Israelis and Palestinians hoped might be a historic turning point. This was supposed to put an end to the chronic disease of protracted conflict, allowing Palestinians to enjoy freedom in an independent state side by side to Israel and Israelis to live within peaceful, secure borders with the respect of the international community. Palestinians were ready to give up 78% of their land. Free Palestine would be in the remaining 22%, with East Jerusalem as the capital and a satisfactory solution to the Right of Return. The patient's diagnosis and seeking therapy has been delayed by greed, ignorance, ideology, violence and fear. Accurate diagnosis is needed to successfully heal the wounds and cure this chronic disease.

  18. [Fetal programming as a cause of chronic diseases in adult life].

    Seremak-Mrozikiewicz, Agnieszka; Barlik, Magdalena; Drews, Krzysztof

    2014-01-01

    Long-term adaptive changes occurring in a developing fetus in response to unstable in utero environmental conditions, which appear at a particular time (critical window), are called intrauterine or fetal programming. These adaptive changes are beneficial during the intrauterine period because they adapt the fetus to current needs, but may turn out to be harmful in the end and lead to development of chronic diseases in adult life. Fetal programming means the structural and functional changing of an organism, metabolism and function of some cells, tissues and systems, that occur even despite intrauterine limitations. Events of fetal life influence the determination of physiological patterns which may manifest as disease processes in the adulthood (Barker's hypothesis). Genetic and environmental factors (poor diet in pregnancy chronic intrauterine fetal hypoxia, the effects of xenobiotics and drugs, as well as hormonal disorders) influence the phenotype of a newborn and are involved in the intrauterine programming process. The effects of fetal programming may be passed along to the next generations via not fully understood pathways, which probably include epigenetic mechanisms. Most of the mechanisms underlying this process remain unclear and need to be elucidated.

  19. Genetic and morphological characterization of Cladobotryum species causing cobweb disease of mushrooms.

    McKay, G J; Egan, D; Morris, E; Scott, C; Brown, A E

    1999-02-01

    Cladobotryum dendroides (= Dactylium dendroides) has hitherto been regarded as the major causal agent of cobweb disease of the cultivated mushroom, Agaricus bisporus. Nucleotide sequence data for the internal transcribed spacer (ITS) regions of four Cladobotryum/Hypomyces species reported to be associated with cobweb disease, however, indicate that the most common pathogen is now C. mycophilum. This cobweb pathogen varies somewhat in conidial septation from published descriptions of C. mycophilum and lacks the distinctive colony odor. ITS sequencing revealed minor nucleotide variation which split isolates of the pathogen into three subgroups, two comprising isolates that were sensitive to methylbenzimidazole carbamate (MBC) fungicides and one comprising MBC-resistant isolates. The MBC-resistant isolates, which were only obtained from Ireland and Great Britain, clustered together strongly in randomly amplified polymorphic DNA (RAPD) PCR analysis, suggesting that they may be clonal. The MBC-sensitive isolates were more diverse. A RAPD fragment of 800 to 900 bp, containing a microsatellite and found in the MBC-resistant isolates, also indicated their clonal nature; the microsatellites of these isolates contained the same number of GA repeats. Smaller, polymorphic microsatellites, similarly comprising GA repeats, in the MBC-sensitive isolates in general correlated with their geographic origin.

  20. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

    Ward, Tara L; Valberg, Stephanie J; Adelson, David L; Abbey, Colette A; Binns, Matthew M; Mickelson, James R

    2004-07-01

    Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV. We have now derived the complete GBE1 cDNA sequences for control horses and affected foals, and identified a C to A substitution at base 102 that results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon 1. All 11 affected foals were homozygous for the X34 allele, their 11 available dams and sires were heterozygous, and all 16 control horses were homozygous for the Y34 allele. The previous findings of poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunodetectable GBE1 protein, coupled with the present observation of abundant GBE1 mRNA in affected foals, are all consistent with the nonsense mutation in the 699 amino acid GBE1 protein. The affected foal pedigrees have a common ancestor and contain prolific stallions that are likely carriers of the recessive X34 allele. Defining the molecular basis of equine GSD IV will allow for accurate DNA testing and the ability to prevent occurrence of this devastating disease affecting American Quarter Horses and related breeds.