American Porphyria Foundation

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... Nicole Castelano Gregary Edwards Megan Parrish ~ How the dog I didn't want became the dog I'd always dreamed of Darnisha Davenport Liz ... or through the site for commercial or public purposes. The American Porphyria Foundation (APF) Tax Forms 990 ...

Porphyria Treatment Options

Science.gov (United States)

... Nicole Castelano Gregary Edwards Megan Parrish ~ How the dog I didn't want became the dog I'd always dreamed of Darnisha Davenport Liz ... or through the site for commercial or public purposes. The American Porphyria Foundation (APF) Tax Forms 990 ...

Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose

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Natacha Rodrigues

2017-01-01

Full Text Available Porphyria cutanea tarda (PCT is a rare disease, with a strong association with hepatitis C virus. PCT is particularly problematic in end-stage renal disease patients as they have no renal excretion of porphyrins and these are poorly dialyzed. Also, conventional treatment of PCT is compromised in these patients as hydroxychloroquine is contraindicated, phlebotomies with the stipulated frequency are poorly tolerated in already anaemia-prone patients, and iron-chelating agents are less efficient in removing iron and contribute to worsening anaemia. The authors report a patient on haemodialysis, with hepatitis C infection, that is diagnosed with PCT. Despite the good clinical results with deferoxamine, she became dependent on blood transfusions because of her ferropenic state. Every time oxide iron was started, the patient developed clinical features of the disease, resolving after the suspension of the drug. A decision was made to start the patient on ferric carboxymaltose, which was well tolerated without disease symptoms and need of further blood transfusions. This case suggests that deferoxamine is efficient in treatment of porphyria cutanea tarda. Also, ferric carboxymaltose may be a valuable option for refractory anaemia in patients with this disease and end-stage renal disease, as it seems to provide iron without clinical relapse of the disease.

Acute Intermittent Porphyria (AIP)

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... the Healthcare Professionals area of our site. PBS Documentary AIP Diagnosis Stories **Diagnostic Testing for the Acute ... be administered only by physicians experienced in the management of porphyrias in a hospital setting. Panhematin is ...

Congenital Erythropoietic Porphyria (CEP)

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... subsequent pregnancies in CEP families. Standard Therapies Treatment Avoidance of sunlight is essential to prevent the skin ... or public purposes. The American Porphyria Foundation (APF) Tax Forms 990 are readily available to the public. ...

Genetics Home Reference: porphyria

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... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... PubMed Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005; ...

Weight Loss & Acute Porphyria

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... Nicole Castelano Gregary Edwards Megan Parrish ~ How the dog I didn't want became the dog I'd always dreamed of Darnisha Davenport Liz ... or through the site for commercial or public purposes. The American Porphyria Foundation (APF) Tax Forms 990 ...

Population ecology of variegate darter (Etheostoma variatum) in Virginia

Science.gov (United States)

Argentina, Jane E.; Angermeier, Paul; Hallerman, Eric M.

2013-01-01

Variegate darters (Etheostoma variatum) were listed as endangered in Virginia in 1992. Reasons for listing included habitat degradation and concerns about current and future impacts of coal mining throughout their Virginia range. Prior to this research, little was known about variegate darter distribution, habitat use, or populations in Virginia. Two primary goals of this research were to gain knowledge about the current population ecology and the relationship between landscape-level factors (e.g., land cover changes, watershed size, isolation from other populations) on current and past variegate darter population sizes.We investigated distribution, habitat suitability, population genetics, and population size and structure of variegate darters in the upper Big Sandy River drainage, Buchanan, Dickenson, and Wise Co., Virginia. Our results indicate variegate darters are primarily found in the Levisa Fork, with highest densities and abundances between its confluence with Dismal Creek and the Virginia-Kentucky border. Sporadic occurrences in smaller tributaries to the Levisa and Tug forks indicate they exist more widely in low densities, especially near the confluence with the Tug and Levisa mainstems. Detection of variegate darters in smaller tributaries was inconsistent, with reach-level occupancy estimates varying among years. We detected young-of-year variegate darters every year we sampled, but age 1+ darters were indistinguishable from older darters based on standard length.Variegate darter population size and stability in Virginia were estimated via multiple methods, including site occupancy surveys, mark-recapture studies, and population genetic analysis. Using mark-recapture methods at five sites, we estimated overall population size in 2011 to be approximately 12,800 individuals in the 35-km reach between the Levisa Fork - Dismal Creek confluence and the Virginia-Kentucky border. Age structure seemed stable, with breeding adults and young-of-year collected

Investigations on gamma ray induced chlorophyll variegated mutants

International Nuclear Information System (INIS)

Datta, S.K.; Dwivedi, A.K.; Banerji, B.K.

1995-01-01

Considering economic importance of chlorophyll variegation in floriculture trade an attempt was made for cytological, anatomical and biochemical analysis of four Bougainvillea and Lantana depressa chlorophyll variegated mutants for better and clear understanding of origin of chlorophyll variegation. No cytological evidence could be detected for their origin. Anatomical and biochemical examinations revealed that chlorophyll variegation in these mutants were due to changes in biosynthesis pathways and time of chlorophyll synthesis in palisade and spongy mesophyll cells. (author). 7 refs., 3 figs., 3 tabs

Markers for vulnerability in acute porphyria. A hypothesis paper.

Science.gov (United States)

Thunell, S; Andersson, C; Carlmark, B; Floderus, Y; Grönqvist, S O; Harper, P; Henrichson, A; Lindh, U

1995-04-01

Previously symptomatic and permanently asymptomatic carriers of a gene mutation for acute intermittent porphyria as well as matched controls were screened with regard to a series of variables of possible relevance to the development of porphyric symptoms. The basis for the study was a concept of acute porphyria as a condition of a permanent system overload of oxidative stress, with long term effects on hepatic and renal tissue, and with instances of periodic overload of free radicals giving rise to acute neurologic involvement. Leukocyte concentrations of manganese, calcium, iron and zinc, as well as erythrocyte calcium differed between the groups, acute intermittent porphyria gene carriers, irrespective of previous porphyric illness, showing significantly higher levels than the controls. Manganese was found to be the most discriminative component of all the 78 variables investigated, accounting for about 98 per cent of the variance between the groups. An increment, by a factor of four, in cellular manganese is suggestive of an increase, in acute intermittent porphyria, of a manganese associated enzyme, e.g. glutamine synthetase, pyruvate carboxylase or mitochondrial superoxide dismutase. The best fit into the model considered is provided by a theory focused on superoxide dismutase, induced in response to superoxide anion radical produced from aminolaevulinic acid. In porphyria gene carriers seemingly resistant to porphyric manifestations, an increase in potentially prooxidant cellular iron is matched by a proportional increment in manganese, i.e. presumably by a corresponding mitochondrial superoxide dismutase induction. This mechanism is not operative in porphyric individuals prone to development of neuropsychiatric symptoms. In acute intermittent porphyria with a history of porphyric illness there is a positive correlation between erythrocyte manganese and serum folate and a negative correlation between leukocyte ferrochelatase activity and serum cobalamin

Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.

Science.gov (United States)

Luck, Margaux; Schmitt, Caroline; Talbi, Neila; Gouya, Laurent; Caradeuc, Cédric; Puy, Hervé; Bertho, Gildas; Pallet, Nicolas

2018-01-01

Metabolomic profiling combines Nuclear Magnetic Resonance spectroscopy with supervised statistical analysis that might allow to better understanding the mechanisms of a disease. In this study, the urinary metabolic profiling of individuals with porphyrias was performed to predict different types of disease, and to propose new pathophysiological hypotheses. Urine 1 H-NMR spectra of 73 patients with asymptomatic acute intermittent porphyria (aAIP) and familial or sporadic porphyria cutanea tarda (f/sPCT) were compared using a supervised rule-mining algorithm. NMR spectrum buckets bins, corresponding to rules, were extracted and a logistic regression was trained. Our rule-mining algorithm generated results were consistent with those obtained using partial least square discriminant analysis (PLS-DA) and the predictive performance of the model was significant. Buckets that were identified by the algorithm corresponded to metabolites involved in glycolysis and energy-conversion pathways, notably acetate, citrate, and pyruvate, which were found in higher concentrations in the urines of aAIP compared with PCT patients. Metabolic profiling did not discriminate sPCT from fPCT patients. These results suggest that metabolic reprogramming occurs in aAIP individuals, even in the absence of overt symptoms, and supports the relationship that occur between heme synthesis and mitochondrial energetic metabolism.

European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program.

Science.gov (United States)

Aarsand, Aasne K; Villanger, Jørild H; Støle, Egil; Deybach, Jean-Charles; Marsden, Joanne; To-Figueras, Jordi; Badminton, Mike; Elder, George H; Sandberg, Sverre

2011-11-01

The porphyrias are a group of rare metabolic disorders whose diagnosis depends on identification of specific patterns of porphyrin precursor and porphyrin accumulation in urine, blood, and feces. Diagnostic tests for porphyria are performed by specialized laboratories in many countries. Data regarding the analytical and diagnostic performance of these laboratories are scarce. We distributed 5 sets of multispecimen samples from different porphyria patients accompanied by clinical case histories to 18-21 European specialist porphyria laboratories/centers as part of a European Porphyria Network organized external analytical and postanalytical quality assessment (EQA) program. The laboratories stated which analyses they would normally have performed given the case histories and reported results of all porphyria-related analyses available, interpretative comments, and diagnoses. Reported diagnostic strategies initially showed considerable diversity, but the number of laboratories applying adequate diagnostic strategies increased during the study period. We found an average interlaboratory CV of 50% (range 12%-152%) for analytes in absolute concentrations. Result normalization by forming ratios to the upper reference limits did not reduce this variation. Sixty-five percent of reported results were within biological variation-based analytical quality specifications. Clinical interpretation of the obtained analytical results was accurate, and most laboratories established the correct diagnosis in all distributions. Based on a case-based EQA scheme, variations were apparent in analytical and diagnostic performance between European specialist porphyria laboratories. Our findings reinforce the use of EQA schemes as an essential tool to assess both analytical and diagnostic processes and thereby to improve patient care in rare diseases.

DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing.

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Saveliev, Alexander; Everett, Christopher; Sharpe, Tammy; Webster, Zoë; Festenstein, Richard

2003-04-24

Gene repression is crucial to the maintenance of differentiated cell types in multicellular organisms, whereas aberrant silencing can lead to disease. The organization of DNA into chromatin and heterochromatin is implicated in gene silencing. In chromatin, DNA wraps around histones, creating nucleosomes. Further condensation of chromatin, associated with large blocks of repetitive DNA sequences, is known as heterochromatin. Position effect variegation (PEV) occurs when a gene is located abnormally close to heterochromatin, silencing the affected gene in a proportion of cells. Here we show that the relatively short triplet-repeat expansions found in myotonic dystrophy and Friedreich's ataxia confer variegation of expression on a linked transgene in mice. Silencing was correlated with a decrease in promoter accessibility and was enhanced by the classical PEV modifier heterochromatin protein 1 (HP1). Notably, triplet-repeat-associated variegation was not restricted to classical heterochromatic regions but occurred irrespective of chromosomal location. Because the phenomenon described here shares important features with PEV, the mechanisms underlying heterochromatin-mediated silencing might have a role in gene regulation at many sites throughout the mammalian genome and modulate the extent of gene silencing and hence severity in several triplet-repeat diseases.

ANESTHETIC MANAGEMENT FOR A PATIENT WITH ACUTE INTERMITTENT PORPHYRIA

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Nenad Savić

2010-09-01

Full Text Available Acute intermittent porphyria is a rare metabolic disorder resulting from a partial deficiency of porphobilinogen deaminase, enzyme in the heme biosynthetic pathway. Its inheritance is autosomal dominant. A deficiency of porphobilinogen deaminase is not sufficient by its self to produce acute intermittent porphyria, and other activating factors must also be present. These include some drugs, hormones, infection, injury and alcohol. Besides others, anesthetics have been implicated in the triggering of a number of severe porphyric reactions. Although there is no clinical evidence, the fear of hypothesized porphyrinogenicity of repetitive anesthetics exposures still remains. Despite these doubts, we report here the case of uneventful repeated exposure to anesthetics in a patient suffering from acute intermittent porphyria, within a fifteen- month period. On both occasions, the patient was safely exposed to certain anesthetics included: propofol, sevoflurane, rocuronium, midazolam and fentanyl.

Porphyria and radiotherapy: yet a constellation of risk?; Porphyrie und Radiotherapie: doch eine Risikokonstellation?

Energy Technology Data Exchange (ETDEWEB)

Rhomberg, W. [Abt. fuer Radioonkologie, Landeskrankenhaus, Feldkirch (Austria); Offner, F.A. [Abt. fuer Pathologie, Landeskrankenhaus, Feldkirch (Austria)

2005-06-01

Background: little is known concerning the relation of porphyrias to radiation treatment for cancer. The recent literature does not report negative outcomes at least in single cases of breast cancer, bladder cancer or in a patient with lymphoma. Theoretically, there is a risk for radiation treatment in cases of porphyrias. Case report: two patients with porphyria are described who underwent radiotherapy for glioblastoma multiforme. Case histories, radiation treatment data and the proof of porphyria are given in detail. The patients received a concomitant radiochemotherapy with infusions of ACNU [1-(4-amino-2-methyl-5-pyrimidinyl)-methyl-(2-chloroethyl)-3-nitrosourea] every 6 weeks. The total radiation doses at the ICRU point were 60 and 38 Gy, respectively, given in single daily fractions of 2 Gy. Results: both patients responded well as far as objective tumor regression is concerned but died early after 7 and 1.5 months following diagnosis. The first patient experienced a large brain necrosis and deterioration of her porphyria. The second patient died of cardiopulmonary insufficiency still during radiotherapy with persistent or even increased signs of porphyria. The tumor showed extensive necrosis already after 38 Gy. Conclusion: in view of annotations in the literature and this case report, caution is advised as for irradiation of brain or nervous tissues in case of porphyrias. Molecular biology data seems to support this warning to some extent. (orig.)

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

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Amy Chan

2015-01-01

Full Text Available The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 (ALAS1 by triggers such as fasting or drug exposure can lead to accumulation of neurotoxic heme intermediates that cause disease symptoms. We have demonstrated that hepatic ALAS1 silencing using siRNA in a lipid nanoparticle effectively prevents and treats induced attacks in a mouse model of acute intermittent porphyria. Herein, we report the development of ALN-AS1, an investigational GalNAc-conjugated RNAi therapeutic targeting ALAS1. One challenge in advancing ALN-AS1 to patients is the inability to detect liver ALAS1 mRNA in the absence of liver biopsies. We here describe a less invasive circulating extracellular RNA detection assay to monitor RNAi drug activity in serum and urine. A striking correlation in ALAS1 mRNA was observed across liver, serum, and urine in both rodents and nonhuman primates (NHPs following treatment with ALN-AS1. Moreover, in donor-matched human urine and serum, we demonstrate a notable correspondence in ALAS1 levels, minimal interday assay variability, low interpatient variability from serial sample collections, and the ability to distinguish between healthy volunteers and porphyria patients with induced ALAS1 levels. The collective data highlight the potential utility of this assay in the clinical development of ALN-AS1, and in broadening our understanding of acute hepatic porphyrias disease pathophysiology.

Porfiria cutânea tardia Porphyria cutanea tarda

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Fátima Mendonça Jorge Vieira

2006-12-01

Full Text Available Trata-se de revisão sobre a porfiria cutânea tardia em que são abordados a fisiopatogenia, as características clínicas, as doenças associadas, os fatores desencadeantes, a bioquímica, a histopatologia, a microscopia eletrônica, a microscopia de imunofluorescência e o tratamento da doença.This is a review article of porphyria cutanea tarda addressing pathophysiology, clinical features, associated conditions, triggering factors, biochemistry, histopathology, electronic microscopy, immunofluorescence microscopy and treatment of the disease.

Competing Hegemonic Projects within China's Variegated Capitalism

DEFF Research Database (Denmark)

Mulvad, Andreas Christian Møller

2014-01-01

This article investigates the variegated model of capitalism emerging in China through a comparative analysis of two contrasting local government approaches developed in Chongqing and Guangdong. From 2007 to 2012, elite politicians and intellectuals articulated the Chongqing and Guangdong models...... of his Guangdong counterpart Wang Yang. Future studies should expand upon the key theoretical insight of the paper: that the emergent variegated capitalism approach to political–economic analysis needs a stronger ideational component....

Melatonin modulates drug-induced acute porphyria

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Sandra M. Lelli

Full Text Available This work investigated the modulation by melatonin (Mel of the effects of the porphyrinogenic drugs 2-allyl-2-isopropylacetamide (AIA and 3,5-diethoxycarbonyl-1,4-dihydro-2,4,6-collidine (DDC on oxidative environment, glucose biosynthesis and heme pathway parameters. Administration of Mel before rat intoxication with AIA/DDC showed a clear beneficial effect in all cases. Mel induced decreases of 42% and 35% in the excretion of the hemeprecursors 5-aminolevulinic acid (ALA and porphobilinogen (PBG, respectively, and a 33% decrease in the induction of the heme regulatory enzyme 5-aminolevulinic acid-synthase (ALA-S. The activity of the glucose metabolism enzyme phosphoenolpyruvate carboxykinase (PEPCK, which had been diminished by the porphyrinogenic treatment, was restored by 45% when animals were pre-treated with Mel. Mel abolished the modest decrease in glucose 6-phospatase (G6Pase activity caused by AIA/DDC treatment. The oxidative status of lipids was attenuated by Mel treatment in homogenates by 47%, whereas no statistically significant AIA/DDC-induced increase in thiobarbituric acid reactive substances (TBARS was observed in microsomes after Mel pre-treatment. We hypothesize that Mel may be scavenging reactive species of oxygen (ROS that could be damaging lipids, PEPCK, G6Pase and ferrochelatase (FQ. Additionally, Mel administration resulted in the repression of the key enzyme ALA-S, and this could be due to an increase in glucose levels, which is known to inhibit ALA-S induction. The consequent decrease in levels of the heme precursors ALA and PBG had a beneficial effect on the drug-induced porphyria. The results obtained open the possibility of further research on the use of melatonin as a co-treatment option in acute porphyria. Keywords: Melatonin, Glucose synthesis, Heme pathway, Acute porphyria, Oxidative stress

Congenital erythropoietic porphyria in an African hedgehog (Atelerix albiventris).

Science.gov (United States)

Wolff, Carlos; Corradini, Paulina; Cortés, Galaxia

2005-06-01

A 6-mo-old, male African hedgehog (Atelerix albiventris) presented with a history of pink urine and demonstrating pink-colored teeth and mild hepatomegaly on examination. Urinalysis revealed no physical, chemical, or cellular abnormalities other than a pink color and fluorescence under ultraviolet light (UV). Also under UV, intense fluorescence of teeth, feet, and spines was noted. Porphyria was suspected. Spectrophotometric evaluation of urine showed extremely elevated levels of copro- and uroporphyrins. Analysis of the urine by thin-layer chromatography showed an abnormal pattern of excreted porphyrin intermediates. Urine high-performance thin-layer chromatography showed that excreted porphyrins were 90-95% of the type-I isomeric form, suggestive of congenital erythropoietic porphyria.

Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.

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Vieira, Fatima Mendonça Jorge; Nakhle, Maria Cristina; Abrantes-Lemos, Clarice Pires; Cançado, Eduardo Luiz Rachid; Reis, Vitor Manoel Silva dos

2013-01-01

Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations. An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR. Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors. Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients.

Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo

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Megan E. MacGillivray

2018-05-01

Full Text Available Porphyria cutanea tarda (PCT is a cutaneous porphyria that presents later in life with cutaneous findings in sun-exposed sites. We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma, acquired ichthyosis, and nonscarring alopecia. Possible triggers for her PCT include tamoxifen treatment for breast cancer and carrier status of the hemochromatosis gene. High-dose chloroquine was used to successfully achieve clinical remission and normalize her uroporphyrins. While on chloroquine she developed extensive classic vitiligo. It is not clear if this is another feature of her complex and unusual PCT, or a consequence of her antimalarial therapy.

Diagnosing diabetes mellitus in patients with porphyria cutanea tarda

DEFF Research Database (Denmark)

Christiansen, Anne L.; Bygum, Anette; Hother-Nielsen, Ole

2018-01-01

The prevalence of diabetes mellitus is increased in patients with porphyria cutanea tarda. Different tests are available for diagnosing and screening for type II diabetes mellitus, however choosing the most suitable test is challenging. The pitfalls in the different tests along with the interfering...... comorbidities and treatments concerning patients with porphyria cutanea tarda complicate diagnosing these patients with diabetes mellitus. HbA1c, fasting glucose, or oral glucose tolerance are the current available tests, with HbA1c as first choice. Measuring HbA1c requires no fasting, however HbA1c can...... be false low if the patient is treated with phlebotomy or has liver cirrhosis or chronic hepatitis. Instead fasting glucose and oral glucose tolerance tests can be used if the patient is not acutely ill. If either of the tests give a result in the diagnostic range, the test should be repeated...

Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain

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Ming-Ta Tsai

2017-01-01

Full Text Available Lead poisoning (LP is less commonly encountered in emergency departments (ED. However, lead exposure still occurs, and new sources of poisoning have emerged. LP often goes unrecognized due to a low index of suspicion and nonspecific symptoms. We present a case of a 48-year-old man who had recurring abdominal pain with anemia that was misdiagnosed. His condition was initially diagnosed as nonspecific abdominal pain and acute porphyria. Acute porphyria-like symptoms with a positive urine porphyrin test result led to the misdiagnosis; testing for heme precursors in urine is the key to the differential diagnosis between LP and acute porphyria. The final definitive diagnosis of lead toxicity was confirmed based on high blood lead levels after detailed medical history taking. The lead poisoning was caused by traditional Chinese herbal pills. The abdominal pain disappeared after a course of chelating treatment. The triad for the diagnosis of lead poisoning should be a history of medicine intake, anemia with basophilic stippling, and recurrent abdominal pain.

Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria.

Science.gov (United States)

Gomez-Gomez, Alex; Marcos, Josep; Aguilera, Paula; To-Figueras, Jordi; Pozo, Oscar J

2017-08-15

Acute intermittent porphyria (AIP) is a rare metabolic disorder due to a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. This low enzymatic activity may predispose to the appearance of acute neurological attacks. Seminal studies suggested that AIP was associated with changes in tryptophan homeostasis with inconclusive results. Therefore, the aim of this study was to analyze the urinary metabolome of AIP patients focusing on tryptophan metabolism using state-of-the-art technology. This was a case-control study including a group of 25 AIP patients with active biochemical disease and increased excretion of heme-precursors and 25 healthy controls. Tryptophan and related compounds and metabolites including: large neutral amino acids (LNAAs), serotonin, kynurenine, kynurenic acid and anthranilic acid were quantified in urine by liquid chromatography tandem-mass spectrometry (LC-MS/MS). Twenty-nine biological markers (including metabolic ratios and absolute concentrations) were compared between patients and controls. Significant differences were found in the tryptophan-kynurenine metabolic pathway. Compared to controls, AIP patients showed: (a) increased urinary excretion of kynurenine and anthranilic acid (Pmetabolome of hepatic porphyrias. Copyright © 2017. Published by Elsevier B.V.

Porfirias poco frecuentes: Casos detectados en la población argentina Non frequent porphyrias in the argentinean population

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V A Melito

2006-12-01

Full Text Available Las porfirias son consecuencia de fallas en el metabolismo del hemo. Se clasifican según el tipo de sintomatología clínica prevalente o el órgano donde se expresa preferencialmente la falla metabólica. En general la deficiencia enzimática está asociada a mutaciones en los genes que codifican para cada una de las enzimas. Están descritos 7 tipos de porfiria diferentes. Se transmiten por carácter autosómico dominante a excepción de la PCE, la PHE y la NPA que son recesivas. Sin embargo, están reportadas variantes homocigotas para el resto de las porfirias de pronóstico y evolución mucho más grave que la forma heterocigota. La descripción de estos casos poco frecuentes, sus tratamientos y evolución, facilitarían tanto el diagnóstico diferencial de la porfiria como el conocimiento de las posibilidades terapéuticas en cada caso. Asimismo para las porfirias heterocigotas con manifestación infantil, su identificación temprana y tratamiento aseguraría una mejor evolución minimizando los riesgos asociados. Se han diagnosticado 5 casos de porfirias agudas en niñas: 2 de PAI, 2 de PV y 1 de CPH. Entre las porfirias cutáneas se presentan 25 casos de PCT infantil, el primer caso de PHE en Argentina, 4 casos de PCE infantil y 1 en un adulto y 2 casos de PPE con compromiso hepatobiliar.The Porphyrias are a group of diseases resulting from partial deficiencies in one of the heme biosynthetic enzymes. These disorders can be classified on the basis of their clinical manifestations or according the organ where the metabolic deficiency is mainly expressed. In general this enzyme deficiency is associated with mutations in the genes which codify each enzyme. There are 7 types of Porphyrias. They are autosomal dominant disorders with the exception of PCE, PHE and NPA which are recessive. However, some rare and severe cases with recessive inheritance have also been reported. The description of these infrequent cases and their treatments and

Acute intermittent porphyria: Diagnostic dilemma and treatment options

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Mohan Deep Kaur

2015-01-01

Full Text Available Acute intermittent porphyria (AIP presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage. We present here a case report of AIP where the diagnosis was missed. The diversity of symptoms and details concerning the treatment options for AIP are discussed.

Acute intermittent porphyria: Diagnostic dilemma and treatment options

Science.gov (United States)

Kaur, Mohan Deep; Hazarika, Nita; Saraswat, Namita; Sood, Rajesh

2015-01-01

Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage. We present here a case report of AIP where the diagnosis was missed. The diversity of symptoms and details concerning the treatment options for AIP are discussed. PMID:26330726

Genetics Home Reference: mosaic variegated aneuploidy syndrome

Science.gov (United States)

... In MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at ... InfoSearch: Warburton Anyane Yeboa syndrome KidsHealth from Nemours: Intrauterine Growth Restriction ... mosaic variegated aneuploidy syndrome 1 MalaCards: ...

Molecular Basis Underlying Leaf Variegation of a Moth Orchid Mutant (Phalaenopsis aphrodite subsp. formosana

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Chi-Chu Tsai

2017-07-01

Full Text Available Leaf variegation is often the focus of plant breeding. Here, we studied a variegated mutant of Phalaenopsis aphrodite subsp. formosana, which is usually used as a parent of horticultural breeding, to understand its anatomic and genetic regulatory mechanisms in variegation. Chloroplasts with well-organized thylakoids and starch grains were found only in the mesophyll cells of green sectors but not of yellow sectors, confirming that the variegation belongs to the chlorophyll type. The two-dimensional electrophoresis and LC/MS/MS also reveal differential expressions of PsbP and PsbO between the green and yellow leaf sectors. Full-length cDNA sequencing revealed that mutant transcripts were caused by intron retention. When conditioning on the total RNA expression, we found that the functional transcript of PsbO and mutant transcript of PsbP are higher expressed in the yellow sector than in the green sector, suggesting that the post-transcriptional regulation of PsbO and PsbP differentiates the performance between green and yellow sectors. Because PsbP plays an important role in the stability of thylakoid folding, we suggest that the negative regulation of PsbP may inhibit thylakoid development in the yellow sectors. This causes chlorophyll deficiency in the yellow sectors and results in leaf variegation. We also provide evidence of the link of virus CymMV and the formation of variegation according to the differential expression of CymMV between green and yellow sectors.

Acute Porphyria Presenting as Epilepsia Partialis Continua

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Thi Phuoc Yen Tran

2013-06-01

Full Text Available Purpose: The porphyrias are a defect in the biosynthesis of heme which can be associated with different neurological symptoms during acute attacks such as peripheral neuropathy, mental disturbance and seizures. So far, there have only been a few case reports of status epilepticus, none of which were of epilepsia partialis continua (EPC. We present here two cases of hereditary coproporphyria (HCP manifesting EPC as part of the clinical presentation. Method: The patients' medical charts, EEG and imaging studies were carefully reviewed. Results: Case 1 is a 49-year-old male who first presented a tonic-clonic seizure. Case 2 is a 30-year-old male who came to the emergency room for a convulsive status epilepticus. Both evolved to EPC over the next days. EPC persisted despite several antiepileptic drug trials. Diagnosis of HCP was confirmed by a high level of urine, fecal and serum porphyrins in both cases and by genetic testing in one. Over the last 3 years, the first patient has continued to present non-disabling EPC and has had four tonic-clonic seizures associated with alcohol consumption. The second patient died from brain edema one month and half after admission. Conclusion: Acute porphyrias should be included in the differential diagnosis of new onset status epilepticus, including EPC. Their recognition is important as it modifies significantly patient management, since many anticonvulsants are porphyrogenic.

The high frequency of variegated forms after in vitro mutagenesis in Saintpaulia ionantha Wendl.

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Marek Gaj

2014-01-01

Full Text Available The leaf-explants of Saintpaulia ionantha Wendl. var.'miniature' were treated by different doses of MNH and cultured on shoot regeneration medium. A strong toxic effect of some MNH doses on explant survival during the first two subcultures was noticed. The explants surviving treatment regenerated shoots with the efficiency comparable to the control. The high number of shoots regenerated from mutagenised leaves showed chlorophyll chimerism (so-called variegated forms. The use of 5 mM MNH for 1.5 or 2 h was found very effective, as 100% of survived explants regenerated variegated shoots. Besides hundreds of variegated forms also leaf-shape and flower-colour variants were observed in MNH-treated culture. Somaclonal variation was not observed in the control culture. The results indicate the great efficiency of in vitro applied MNH for in-duction of morphological variants of Saintpaulia, and especially variegated forms.

Genética de Coffea. XVIII - Variegação no cafeeiro Leaf variegation in coffee plants

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A. Carvalho

1954-01-01

Full Text Available A variegação das fôlhas do cafeeiro tanto em plantas novas como em plantas adultas tem sido freqüentemente observada. Plantas variegadas podem ocorrer espontaneamente nas progénies das diversas variedades de Coffea arabica L., motivo porque não devem constituir variedade distinta dessa espécie, como foi proposto por Cramer. As plantas variegadas em estudo puderam ser agrupadas em duas categorias, isto é, aquelas em que a variegação não se acha associada com anomalias na forma e textura das folhas e aquelas nas quais a variegação é acompanhada dessas anomalias. No primeiro grupo o padrão de variegação não é uniforme para tôdas as fôlhas, enquanto no segundo grupo o padrão é semelhante para tôda a planta. Usualmente apenas alguns ramos das plantas do primeiro grupo são variegados. Observou-se algumas vezes que as duas fôlhas do mesmo verticilo têm padrões semelhantes de variegação. Encontraram-se também fôlhas variegadas nas quais a metade da lâmina é variegada ou mesmo albina, enquanto a outra metade apresenta a côr verde normal. Os dados genéticos obtidos, embora preliminares para a maioria das plantas variegadas em investigação, permitiram concluir que o padrão de variegação da planta 180, pertencente ao primeiro grupo, é herdado pelo citoplasma e não é transmitido pelo pólen. O padrão de variegação da planta 253-21, pertencente ao segundo grupo, no entanto, parece ser transmitido pelo polen.Leaf variegation in coffee plants is a relatively common abnormality, and variegated seedlings have been found to occur spontaneously in progenies of most varieties of Coffea arabica L. For this reason it is thought that variegated types should not be described as distinct varieties, as it was done before by Cramer. Variegated coffee plants can be grouped in two categories : first, those in which variegated leaves are normal in shape and texture, but do not show a uniform variegation pattern; and second, those

Red cell survival and sequestration in acute intermittent porphyria

International Nuclear Information System (INIS)

Nawalkha, P.L.; Soni, S.G.; Agrawal, V.K.; Misra, S.N.

1980-01-01

Life span and sequestration of red cells have been studied in twenty one proved cases of acute intermittent porphyria of different age and sex group from Bikaner District, Rajasthan State (India). Chromium-51 labelled red cells were used in the study and the excess count method of Bughe Jones and Szur was used to calculate the index of sequestration. The mean apparent half survival time of erythrocytes in the control subjects was 25.9 +- 2.9 (S.D.) days and the same in the prophyria patients was 27.0 +- 3.8 days. This shows that the life span of red cells is normal in both the patient and the control. Excess destruction of red blood cells was found to take place in either spleen or liver in the disease and no excess accumulation of erythrocytes occurred over spleen as compared to liver. (M.G.B.)

Terpene-induced porphyria and the illness of Vincent van Gogh

Energy Technology Data Exchange (ETDEWEB)

Lambrecht, R.; Cable, E.; Cable, J.; Clements, E.; Donohue, S.; Greene, Y.; Srivastava, K.; Arnold, W.; Bonkovsky, H. (Univ. of Massachusetts Medical Center, Worcester (United States) Univ. of Kansas Medical Center, Kansas City (United States))

1992-01-01

Vincent van Gogh suffered from recurrent bouts of an illness that may have been acute porphyria and abused camphor and alcohol, the latter particularly in the form of absinthe, a liqueur distilled from wormwood that was popular in 19th C France. To learn whether camphor or terpenes found in absinthe are porphyrogenic, the authors studied them in cultures of chick embryo liver cells. All were found to be porphyrogenic, especially in the presence of deferoxamine. The terpenes also induced the activity and protein amount of 5-aminolevulinate synthase and heme oxygenase, and induced activities of benzphetamine demethylase. The degree of porphyrin and enzyme induction produced by 1mM camphor was similar to that produced by 50uM glutethimide, a potent porphyrogen. Potency of pinene and thujone were lower. Camphor and glutethimide both produced accumulations of 8- and 7-COOH porphyrins, whereas pinene and thujone produced 4- and 2-COOH porphyrin accumulation. The authors conclude that camphor, pinen and thujone are porphyrogenic, cable of exacerbating acute porphyria, and may have done so in van Gogh.

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

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Garima Agrawal Varshney

2018-01-01

Full Text Available Acute intermittent porphyria (AIP and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.

Variegate porphyria in South Africa, 1688 - 1996 - new ...

African Journals Online (AJOL)

Specific suppression of haem synthesis with intravenous ... by abdominal pain, paralysis and the passage of red urine. This was .... In the marrow haem synthesis is also Iimrted by .... serum urea levels being elevated in 53% of subjects. 80th.

Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse.

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Carmen Unzu

Full Text Available Chronic kidney disease is a long-term complication in acute intermittent porphyria (AIP. The pathophysiological significance of hepatic overproduction of the porphyrin precursors aminolevulinate acid (ALA and porphobilinogen (PBG in chronic kidney disease is unclear. We have investigated the effect of repetitive acute attacks on renal function and the effect of total or five-sixth nephrectomy causing renal insufficiency on hepatic heme synthesis in the porphobilinogen deaminase (PBGD-deficient (AIP mouse. Phenobarbital challenge in the AIP-mice increased urinary porphyrin precursor excretion. Successive attacks throughout 14 weeks led to minor renal lesions with no impact on renal function. In the liver of wild type and AIP mice, 5/6 nephrectomy enhanced transcription of the first and rate-limiting ALA synthase. As a consequence, urinary PBG excretion increased in AIP mice. The PBG/ALA ratio increased from 1 in sham operated AIP animals to over 5 (males and over 13 (females in the 5/6 nephrectomized mice. Total nephrectomy caused a rapid decrease in PBGD activity without changes in enzyme protein level in the AIP mice but not in the wild type animals. In conclusion, high concentration of porphyrin precursors had little impact on renal function. However, progressive renal insufficiency aggravates porphyria attacks and increases the PBG/ALA ratio, which should be considered a warning sign for potentially life-threatening impairment in AIP patients with signs of renal failure.

The microbial flora of the different gut regions of the variegated ...

African Journals Online (AJOL)

The microbial flora of the gut regions and gut contents of the variegated grasshopper Zonocerus variegatus instars was studied using the pour plate technique. The gut sections (Fore-, mid-, and hind-gut) harboured a variety organisms mainly bacteria, fungi and mould. Yeasts species isolated were Candida, ...

A Study on the Feeding and Growth Patterns of the Variegated ...

African Journals Online (AJOL)

The feeding and growth patterns of the variegated grasshopper, Zonocerus variegatus (L) were studied in the laboratory to ascertain the amount of food intake, food assimilated and faeces excreted by its nymph and adult stages on a mixed diet of Cassava (Manihot esculenta) and Siam weed (Chromolaena odorata) leaves.

Arabidopsis VARIEGATED 3 encodes a chloroplasttargeted, zinc-finger protein required for chloroplast and palisade cell development

DEFF Research Database (Denmark)

Næsted, Henrik; Holm, A.; Jenkins, T.

2004-01-01

The stable, recessive Arabidopsis variegated 3 (var3) mutant exhibits a variegated phenotype due to somatic areas lacking or containing developmentally retarded chloroplasts and greatly reduced numbers of palisade cells. The VAR3 gene, isolated by transposon tagging, encodes the 85.9 kDa VAR3...... that pigment profiles are qualitatively similar in wild type and var3, although var3 accumulates lower levels of chlorophylls and carotenoids. These results indicate that VAR3 is a part of a protein complex required for normal chloroplast and palisade cell development....

Differential diagnosis of acute abdominal pain – acute intermittent porphyria

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Mislav Klobučić

2011-08-01

Full Text Available Acute intermittent porphyria (AIP is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominatedby a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-fi- ve-year-old female patient, who had undergone a period of six days between the first presentationto the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.

Arabidopsis VARIEGATED 3 encodes a chloroplast-targeted, zinc-finger protein required for chloroplast and palisade cell development

DEFF Research Database (Denmark)

Næsted, Henrik; Holm, Agnethe; Jenkins, Tom

2004-01-01

The stable, recessive Arabidopsis variegated 3 (var3) mutant exhibits a variegated phenotype due to somatic areas lacking or containing developmentally retarded chloroplasts and greatly reduced numbers of palisade cells. The VAR3 gene, isolated by transposon tagging, encodes the 85.9 kDa VAR3...... that pigment profiles are qualitatively similar in wild type and var3, although var3 accumulates lower levels of chlorophylls and carotenoids. These results indicate that VAR3 is a part of a protein complex required for normal chloroplast and palisade cell development....

Infrared spectroscopy: a potential tool in huanglongbing and citrus variegated chlorosis diagnosis.

Science.gov (United States)

Cardinali, Marcelo Camponez do Brasil; Villas Boas, Paulino Ribeiro; Milori, Débora Marcondes Bastos Pereira; Ferreira, Ednaldo José; França e Silva, Marina; Machado, Marcos Antonio; Bellete, Barbara Sayuri; da Silva, Maria Fatima das Graças Fernandes

2012-03-15

Huanglongbing (HLB) and citrus variegated chlorosis (CVC) are serious threats to citrus production and have caused considerable economic losses worldwide, especially in Brazil, which is one of the biggest citrus producers in the world. Neither disease has a cure nor an efficient means of control. They are also generally confused with each other in the field since they share similar initial symptoms, e.g., yellowing blotchy leaves. The most efficient tool for detecting these diseases is by polymerase chain reaction (PCR). However, PCR is expensive, is not high throughput, and is subject to cross reaction and contamination. In this report, a diagnostic method is proposed for detecting HLB and CVC diseases in leaves of sweet orange trees using attenuated total reflectance Fourier transform infrared spectroscopy and the induced classifier via partial least-squares regression. Four different leaf types were considered: healthy, CVC-symptomatic, HLB-symptomatic, and HLB-asymptomatic. The results show a success rate of 93.8% in correctly identifying these different leaf types. In order to understand which compounds are responsible for the spectral differences between the leaf types, samples of carbohydrates starch, sucrose, and glucose, flavonoids hesperidin and naringin, and coumarin umbelliferone were also analyzed. The concentration of these compounds in leaves may vary due to biotic stresses. Copyright © 2012 Elsevier B.V. All rights reserved.

Heredity of flake- and stripe-variegated traits and their introduction into Japanese day-neutral winter-flowering sweet pea (Lathyrus odoratus L.) cultivars.

Science.gov (United States)

Yagishita, Yoshimi; Hara, Yasuhide; Nakayama, Masayoshi

2018-01-01

Sweet pea ( Lathyrus odoratus L.) is a major cut flower in Japan, generally grown in greenhouses in winter to spring. The wild-type sweet pea is a long-day summer-flowering plant. The day-neutral winter-flowering ability, which allows cut-flower production in Japan, is a recessive phenotype that emerged by spontaneous mutation. Although Japanese winter-flowering cultivars and additionally spring-flowering cultivars, which have semi-long-day flowering ability generated by crossing the winter- and summer-flowering cultivars, have superior phenotypes for cut flowers, they have limited variation in color and fragrance. In particular, variegated phenotypes do not appear in modern winter- and spring-flowering cultivars, only in summer-flowering cultivars. We try to expand the phenotypic diversity of Japanese cut flower cultivars. In the processes, we introduced the variegated phenotypes by crossing with summer-flowering cultivars, and succeeded in breeding some excellent cultivars. During breeding, we analyzed the segregation ratios and revealed the heredity of the phenotypes. Here we review the heredity of these variegated phenotypes and winter-flowering phenotypes and their related genes. We also describe how we introduced the trait into winter-flowering cultivars, tracing their pedigrees to show both phenotypes and genotypes of the progeny at each generation. This knowledge is useful for the efficient breeding of new variegated cultivars.

Characterization of a new potyvirus causing mosaic and flower variegation in Catharanthus roseus in Brazil

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Sheila Conceição Maciel

2011-12-01

Full Text Available Catharanthus roseus is a perennial, evergreen herb in the family Apocynaceae, which is used as ornamental and for popular medicine to treat a wide assortment of human diseases. This paper describes a new potyvirus found causing mosaic symptom, foliar malformation and flower variegation in C. roseus. Of 28 test-plants inoculated mechanically with this potyvirus, only C. roseus and Nicotiana benthamiana developed systemic mosaic, whereas Chenopodium amaranticolor and C. quinoa exhibited chlorotic local lesions. The virus was transmitted by Aphis gossypii and Myzus nicotianae. When the nucleotide sequence of the CP gene (768nt was compared with other members of the Potyviridae family, the highest identities varied from 67 to 76 %. For the 3' UTR (286nt, identities varied from 16.8 to 28.6 %. The name Catharanthus mosaic virus (CatMV is proposed for this new potyvirus.

Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria

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Kianoush Saberi

2016-01-01

Full Text Available Facing a patient with acute intermittent porphyria (AIP, there is narrow safety margin which circumscribe all the therapeutic actions including choice of drugs. This would become even more complicated when it comes to a stressful and drug-dependent process like a cardiopulmonary bypass. According to author′s researches, no specific AIP case of tricuspid valve (TV replacement is reported recently. Furthermore, fast-track anesthesia was safely used in this 37-year-old male known the case of AIP, who was a candidate for TV replacement and removing the port catheter. The patient was extubated subsequently, only 3 h after entering the Intensive Care Unit.

Porfiria aguda intermitente: relato de caso e revisão da literatura Acute intermittent porphyria: case report and review of the literature

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Daniela von Ah Lopes

2008-12-01

caso de porfiria aguda intermitente no pós-operatório de cirurgia bariátrica.Acute intermittent porphyria is an unusual pathology with potentially severe consequences when not early detected. Among the possible causes of porphyric crises decrease of caloric intake has been described. A case of acute intermittent porphyria in the late postoperative period of a bariatric surgery performed for treatment of obesity is reported. A review of the diagnostic aspects and management of this pathology in the intensive care unit follows. A 31 year old woman was admitted in the intensive care unit three weeks after a bariatric surgery, with decreased level of consciousness and respiratory distress. The patient evolved with psychomotor agitation, mental confusion, abdominal pain and proximal tetraparesis. Diagnosis investigation disclosed severe hyponatremia (92mEq/L, hypomagnesemia, hypophosfatemia and hypocalcemia and cloudy urine without hematuria. Acute porphyria was suspected and the urine test detected high delta amino-levulinic acid and porphobilinogen. Treatment consisted of a correction of electrolyte disturbances and high carbohydrate intake. Hematin and heme arginate were not used, due to the difficulty to acquire the medication. After 8 months the patient progressed with full recovery of muscle strength and a clinical improvement. Acute intermittent porphyria has signs and symptoms common to several clinical, neurological, psychiatric and gastroenterological pathologies, which complicate diagnosis. Therefore, acute intermittent porphyria should be included in the differential diagnosis of neurological, psychiatric and gastroenterological alterations when results of all other exams are normal. Attention must be given to patients undergoing surgery mainly bariatric that, in addition to procedure stress, substantially limit the total caloric intake, potentially triggering crises. Review of literature did not disclose any report of acute intermittent porphyria crisis

Insulin resistance in porphyria cutanea tarda.

Science.gov (United States)

Calcinaro, F; Basta, G; Lisi, P; Cruciani, C; Pietropaolo, M; Santeusanio, F; Falorni, A; Calafiore, R

1989-06-01

It has been reported that patients with porphyria cutanea tarda (PCT) develop carbohydrate (CHO) intolerance and manifest diabetes melitus (DM) more frequently than the normal population. In order to verify whether this is due to insulin resistance we studied 5 patients with PCT and 5 normal subjects matched for age, sex and weight. In all the patients an evaluation consisted of the glycemic curve and insulin response to an iv glucose tolerance test (IVGTT: 0.33 g/kg) as well as of an evaluation of the circulating monocyte insulin receptors. Blood samples were drawn in the basal state to measure plasma levels of NEFA, glycerol, and intermediate metabolites. The patients with PCT showed normal glucose tolerance which was obtained, however, at the expense of the elevated insulin levels: therefore a condition of insulin resistance was demonstrated in these subjects. An involvement of the lipid metabolism, observed by the raised levels of plasma NEFA and glycerol, was also evident. The insulin binding to circulating monocytes was reduced but not enough to justify the degree of insulin resistance observed. Therefore, it could be hypothesized, in agreement with similar studies, that a postreceptor defect is responsible for the insulin-resistance observed in patients with PCT and that the reduction of insulin receptors is determined by the down regulation in response to elevated insulinemic levels. An alteration of the porphyrin metabolism might be responsible for this disorder.

MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome

International Nuclear Information System (INIS)

Utz, N.; Kinkel, B.; Hedde, J.P.; Bewermeyer, H.

2001-01-01

Reversible posterior leukoencephalopathy syndrome (PLS) is characterized by headache, altered mental function, visual disturbances and seizures. Neuroimaging studies suggest a white-matter oedema, predominantly in the posterior parietal-temporal-occipital regions of the brain. We present the case of a 30-year-old woman who had suffered her first attack of acute intermittent porphyria (AIP). Following 1 week of abdominal pain she developed several generalized seizures, and hallucinations, and exhibited a progressive deterioration of the consciousness. T2-weighted images, especially fluid-attenuated inversion recovery (FLAIR) sequences showed bilateral lesions in the posterior frontal, parietal and occipital cortex and subcortical white matter. Following treatment with haematin and a high carbohydrate diet the patient's condition improved. Follow-up magnetic resonance imaging (MRI) revealed complete resolution of the lesions. To our knowledge, this is the first report concerning a completely reversible PLS in AIP. (orig.)

Skin changes in chronic kidney disease

OpenAIRE

Joanna M. Przepiórka-Kosińska; Katarzyna M. Chyl-Surdacka; Joanna Bartosińska; Dorota Krasowska; Grażyna Chodorowska

2017-01-01

Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney fun...

Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda.

Science.gov (United States)

Andersen, Janice; Nordin, Karin; Sandberg, Sverre

2016-06-15

Porphyria cutanea tarda (PCT) requires long-term treatment and follow-up, although many patients experience life-long remission. The aim of this cross-sectional postal survey was to describe and investigate the association between illness perception, health complaints, self-reported symptoms and distress in persons with PCT. The participants perceived PCT as a chronic condition with high levels of personal and treatment control. Persons who reported active symptoms scored higher on perceived illness threat, total health complaints and psychological distress compared with those in remission or latent phases. However, a higher perception of illness threat and the total burden of health complaints were more closely associated with psychological distress than were perceived PCT symptoms activity. This has implications for clinical consultation; dermatologists should be attentive to symptoms activity, but also recognize that patients in remission with a high perceived illness threat and multiple health complaints might be especially vulnerable to psychological distress with regards to PCT.

Mutations in circularly permuted GTPase family genes AtNOA1/RIF1/SVR10 and BPG2 suppress var2-mediated leaf variegation in Arabidopsis thaliana.

Science.gov (United States)

Qi, Yafei; Zhao, Jun; An, Rui; Zhang, Juan; Liang, Shuang; Shao, Jingxia; Liu, Xiayan; An, Lijun; Yu, Fei

2016-03-01

Leaf variegation mutants constitute a unique group of chloroplast development mutants and are ideal genetic materials to dissect the regulation of chloroplast development. We have utilized the Arabidopsis yellow variegated (var2) mutant and genetic suppressor analysis to probe the mechanisms of chloroplast development. Here we report the isolation of a new var2 suppressor locus SUPPRESSOR OF VARIEGATION (SVR10). Genetic mapping and molecular complementation indicated that SVR10 encodes a circularly permuted GTPase that has been reported as Arabidopsis thaliana NITRIC OXIDE ASSOCIATED 1 (AtNOA1) and RESISTANT TO INHIBITION BY FOSMIDOMYCIN 1 (RIF1). Biochemical evidence showed that SVR10/AtNOA1/RIF1 likely localizes to the chloroplast stroma. We further demonstrate that the mutant of a close homologue of SVR10/AtNOA1/RIF1, BRASSINAZOLE INSENSITIVE PALE GREEN 2 (BPG2), can also suppress var2 leaf variegation. Mutants of SVR10 and BPG2 are impaired in photosynthesis and the accumulation of chloroplast proteins. Interestingly, two-dimensional blue native gel analysis showed that mutants of SVR10 and BPG2 display defects in the assembly of thylakoid membrane complexes including reduced levels of major photosynthetic complexes and the abnormal accumulation of a chlorophyll-protein supercomplex containing photosystem I. Taken together, our findings suggest that SVR10 and BPG2 are functionally related with VAR2, likely through their potential roles in regulating chloroplast protein homeostasis, and both SVR10 and BPG2 are required for efficient thylakoid protein complex assembly and photosynthesis.

Etiology of three recent diseases of citrus in São Paulo State: sudden death, variegated chlorosis and huanglongbing.

Science.gov (United States)

Bové, Joseph Marie; Ayres, Antonio Juliano

2007-01-01

, citrus variegated chlorosis (CVC), was observed in 1987 in the Triangulo Mineiro of Minas Gerais State and the northern and north-eastern parts of SSP. By 2000, the disease affected already 34% of the 200 million sweet orange trees in SSP. By 2005, the percentage had increased to 43%, and CVC was present in all citrus growing regions of Brazil. Electron microscopy showed that xylem-limited bacteria were present in all symptomatic sweet orange leaves and fruit tissues tested, but not in similar materials from healthy, symptomless trees. Bacteria were consistently cultured from twigs of CVC-affected sweet orange trees but not from twigs of healthy trees. Serological analyses showed the CVC bacterium to be a strain of Xylella fastidiosa. The disease could be reproduced and Koch's postulates fulfilled, by mechanically inoculating a pure culture of X. fastidiosa isolate 8.1.b into sweet orange seedlings. The genome of a CVC strain of X. fastidiosa was sequenced in SSP in the frame of a project supported by FAPESP and Fundecitrus. X. fastidiosa is the first plant pathogenic bacterium, the genome of which has been sequenced. Until recently, America was free of huanglongbing (HLB), but in March 2004 and August 2005, symptoms of the disease were recognized, respectively in the State of São Paulo (SSP) and in Florida, USA. HLB was known in China since 1870 and in South Africa since 1928. Because of its destructiveness and its rapid spread by efficient psyllid insect-vectors, HLB is probably the most serious citrus disease. HLB is caused by a phloem sieve tube-restricted Gram negative bacterium, not yet available in culture. In the 1990s, the bacterium was characterized by molecular techniques as a member of the alpha proteobacteria designated Candidatus Liberibacter africanus for the disease in Africa, and Candidatus Liberibacter asiaticus for HLB in Asia. In SSP, Ca. L. asiaticus is also present, but most of the trees are infected with a new species, Candidatus Liberibacter

Development and systematic validation of qPCR assays for rapid and reliable differentiation of Xylella fastidiosa strains causing citrus variegated chlorosis.

Science.gov (United States)

Li, Wenbin; Teixeira, Diva C; Hartung, John S; Huang, Qi; Duan, Yongping; Zhou, Lijuan; Chen, Jianchi; Lin, Hong; Lopes, Silvio; Ayres, A Juliano; Levy, Laurene

2013-01-01

The xylem-limited, Gram-negative, fastidious plant bacterium Xylella fastidiosa is the causal agent of citrus variegated chlorosis (CVC), a destructive disease affecting approximately half of the citrus plantations in the State of São Paulo, Brazil. The disease was recently found in Central America and is threatening the multi-billion U.S. citrus industry. Many strains of X. fastidiosa are pathogens or endophytes in various plants growing in the U.S., and some strains cross infect several host plants. In this study, a TaqMan-based assay targeting the 16S rDNA signature region was developed for the identification of X. fastidiosa at the species level. Another TaqMan-based assay was developed for the specific identification of the CVC strains. Both new assays have been systematically validated in comparison with the primer/probe sets from four previously published assays on one platform and under similar PCR conditions, and shown to be superior. The species specific assay detected all X. fastidiosa strains and did not amplify any other citrus pathogen or endophyte tested. The CVC-specific assay detected all CVC strains but did not amplify any non-CVC X. fastidiosa nor any other citrus pathogen or endophyte evaluated. Both sets were multiplexed with a reliable internal control assay targeting host plant DNA, and their diagnostic specificity and sensitivity remained unchanged. This internal control provides quality assurance for DNA extraction, performance of PCR reagents, platforms and operators. The limit of detection for both assays was equivalent to 2 to 10 cells of X. fastidiosa per reaction for field citrus samples. Petioles and midribs of symptomatic leaves of sweet orange harbored the highest populations of X. fastidiosa, providing the best materials for detection of the pathogen. These new species specific assay will be invaluable for molecular identification of X. fastidiosa at the species level, and the CVC specific assay will be very powerful for the

Hexachlorobenzene impairs glucose metabolism in a rat model of porphyria cutanea tarda: a mechanistic approach

Energy Technology Data Exchange (ETDEWEB)

Mazzetti, Marta Blanca; Taira, Maria Cristina; Lelli, Sandra Marcela; Viale, Leonor Carmen San Martin de [Departamento de Quimica Biologica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, C1428BGA, Ciudad Autonoma Buenos Aires (Argentina); Dascal, Eduardo; Basabe, Juan Carlos [Centro de Investigaciones Endocrinologicas (CEDIE). Hospital de Ninos, Dr. Ricardo Gutierrez, C1425EDF, Ciudad Autonoma Buenos Aires (Argentina)

2004-01-01

response of the organism to stimulate gluconeogenesis. They showed for the first time that HCB causes impairment of the gluconeogenic pathway. Therefore, the reduced levels of glucose would thus be the consequence of decreased gluconeogenesis, enhanced glucose storage, and unaffected glycolysis. The impairment of gluconeogenesis (especially for PEPCK) and the related variation in glucose levels caused by HCB treatment could be a consequence of the oxidative stress produced by the fungicide. Tryptophan adds its effect to this decrease in the higher phases of HCB intoxication, where its levels overcome the control values possibly owing to the drastic decline of URO-D. This derangement of carbohydrates leads porphyric hepatocytes to have lower levels of free glucose. These results contribute to our understanding of the protective and modulatory effect that diets rich in carbohydrates have in hepatic porphyria disease. (orig.)

Skin changes in chronic kidney disease

Directory of Open Access Journals (Sweden)

Joanna M. Przepiórka-Kosińska

2017-04-01

Full Text Available Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney function (dialysis therapy or kidney transplantation also leads to the resolution of skin lesions.

Obervations on the Induction of Position Effect Variegation of Euchromatic Genes in Drosophila Melanogaster

OpenAIRE

Pokholkova, G. V.; Makunin, I. V.; Belyaeva, E. S.; Zhimulev, I. F.

1993-01-01

In the T(1;2)dor(var7) translocation, the 1A-2B7-8 segment of the X chromosome is brought to the vicinity of 2R-chromosome heterochromatin resulting in position effect variegation of dor, BR-C and more distal genes, as well as compaction of chromatin in this segment. By irradiation of T(1;2)dor(var7), nine reversions (rev) to a normal phenotype were recovered. In two cases (rev27, rev226), the 1A-2B7-8 section is relocated to the 19A region of the X chromosome, forming free duplications (1A-2...

Aspectos anatômicos da variegação na folha do cafeeiro Anatomical features of leaf variegation in coffee plants

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D. M. Dedecca

1957-01-01

, ao mesmo tempo que foi impedida a formação de um verdadeiro parênquima paliçádico. A grande atividade da gema apical dos cafeeiros que exibem êste tipo de variegação, tal como pode ser observada pelas freqüentes modificações na sua morfologia, conduziu essas plantas a um intenso desenvolvimento vegetativo, servindo de evidência em favor da hipótese de que distúrbios vários devem ter ocorrido durante o desenvolvimento daquelas fôlhas.Two different types of leaf variegation in coffee plants are studied on the anatomical viewpoint, and their histological differences are described, when compared with normal, green leaves. In the first case, variegated leaves are normal in shape and texture, and show different variegation patterns, being histologically identical with green leaves of normal plants. The variegation seems to be due to disturbances in the chlorophyll-producing mechanism, resulting in the formation of large, green and normal chloroplasts, aad small, yellowish and abnormal chloroplasts. The distribution at random of cells having one of these two kinds of chloroplasts can be accounted for the different variegation patterns observed. In the second example, the variegation pattern is uniform throughout the entire plant, and is a more complex phenomenon, since besides being variegated the leaves present several malformations. The anatomical study has revealed that, in this case, the chloroplasts are always normal, the variegation being rather due to the presence of an 1-3-layered hialine hypodermis, which occurs right beneath the upper epidermis. The malformations, represented by abnormalities in the shape and texture of the leaf blade, are mainly due to the lackness of a true palisade parenchyma. This tissue shows all grades of disorganization in the various portions of the leaf, being sometimes present as small patches or palisade cells or lacking completely in other instances. It is suggested that disturbances of any kind should have occurred

Porfiria cutánea tardía: Reporte de 5 casos Porphyria cutanea tarda: Five cases report

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J L Iribas

2008-03-01

Full Text Available La PCT es la más común de las porfirias. Es una fotodermatosis que resulta de la deficiencia de la UPD, enzima perteneciente a la vía de síntesis del hemo. Presentamos la evolución de cinco casos de PCT; cuatro de PCT familiar y uno de PCT esporádica. En dos de los pacientes pertenecientes al grupo de PCT tipo II, encontramos como factor de riesgo, el consumo de alcohol, y en la paciente con PCT tipo I se detectó serología positiva para VHC. Todos los pacientes fueron tratados con cloroquina y flebotomías repetidas. Rápidamente se detectó mejoría clínica y bioquímica. Se observó que la porfirinuria continuó en descenso aún luego de suspendida la terapéutica. Tres de los pacientes con PCT familiar persisten en remisión clínica y con ausenciade recaídas tras más de 10 años de seguimiento. Aconsejamos en pacientes que padecen PCT la búsqueda de factores asociados (VHC, HIV, genes de HH y desencadenantes exógenos (consumo excesivo de alcohol, hierro en la dieta e ingesta de estrógenos que de ser controlados o evitados, junto con el tratamiento oportuno, contribuyen a un satisfactorio control de la enfermedad.The porphyria cutanea tarda is the most frequent porphyria, it is a photodermatosis secondary to uroporphyrinogen decarboxylase deficiency; this enzyme belongs to the haem synthesis pathway. We present on this paper the evolution of five cases of PCT, four of them with familiar type and one of them sporadic type. In two patients belonging to PCT type II, we found alcohol addiction as a serious risk, while on the other patients PCT type I we found HCV positive serology. All patients were treated with chloroquine and phlebotomies. We could observe a good response not only clinical but biochemical. We could also see that the porphyrins urinary level continued descending once the drug was withdrew. Three of the patients with familiar PCT remains in clinical remission without any relapses in ten years of control. We advice

A filter paper dry blood spot procedure for acute intermittent porphyria population screening by use of whole blood uroporphyrinogen-I-synthase assay.

Science.gov (United States)

Johansson, L; Thunell, S; Wetterberg, L

1984-03-13

A filter paper dry blood spot procedure for the determination of whole blood uroporphyrinogen-I-synthase (UIS) activity is presented. The method is based on the concept of enzyme specific activity, the enzyme activity being related to the haemoglobin concentration of the assay sample. The diagnostic capacity with regard to the acute intermittent porphyria (AIP) gene carrier state is shown to be equivalent to that of a washed red cell reference method. On grounds of easy capillary blood sampling, uncomplicated and safe mail specimen transport and simple laboratory reception routines, the method is stated to be well adapted for use in AIP preadolescent population screening.

Is it justifiable to assert that clinical lycanthropy may be correlated to porphyria cutanea tarda?

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Lorenzo Martini

2017-10-01

Full Text Available Scope of this study is to demonstrate an old theory expressed in 1963, when Illis (Guy’s Hospital in London established a correlation between the clinical lycanthropy and congenital porphyria cutanea tarda. We had the fortune to live in a village where they say a lycanthrope lives too and is accustomed to hid himself at home for the 3 days when on the full moon, when he becomes (and behaves as a werewolf. Werewolves like to walk around before dawn craving for water and since We love to walk very early in the morning (as philosopher Emanuel Kant used to do, We have had this chance to encounter this mysterious man, who is a normal man with a regular lifestyle according to lunar cycle. He presents a very pale face with scares and blisters and generally when somebody asks him about this cutaneous manifestations he says he detests sun and light and his skin reacts by this way. We attempted to treat this individual by a pomade containing rutin, diosmin,Centella asiatica,niacinamide and escin. Results are encouraging as well.

A triply cloned strain of xylella fastidiosa multiplies and induces symptoms of citrus variegated chlorosis in sweet orange

Science.gov (United States)

Li; Zreik; Fernandes; Miranda; Teixeira; Ayres; Garnier; Bov

1999-08-01

Xylella fastidiosa isolate 8.1.b obtained from a sweet orange tree affected by citrus variegated chlorosis in the state of Sao Paulo, Brazil, and shown in 1993 to be the causal agent of the disease, was cloned by repeated culture in liquid and on solid PW medium, yielding triply cloned strain 9a5c. The eighth and the 16th passages of strain 9a5c were mechanically inoculated into sweet orange plants. Presence of X. fastidiosa in sweet orange leaves of shoots having grown after inoculation (first-flush shoots) was detected by DAS-ELISA and PCR. Thirty-eight days after inoculation, 70% of the 20 inoculated plants tested positive, and all plants gave strong positive reactions 90 days after inoculation. Symptoms first appeared after 3 months and were conspicuous after 5 months. X. fastidiosa was reisolated from sweet orange leaves, 44 days after inoculation. These results indicate that X. fastidiosa strain 9a5c, derived from pathogenic isolate 8.1.b by triply cloning, is also pathogenic. Strain 9a5c is now used for the X. fastidiosa genome sequencing project undertaken on a large scale in Brazil.http://link. springer-ny.com/link/service/journals/00284/bibs/39n2p106.html

Investigating changes in basal conditions of Variegated Glacier prior to and during its 1982–1983 surge

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M. Jay-Allemand

2011-08-01

Full Text Available Variegated Glacier (Alaska is known to surge periodically after a sufficient amount of cumulative mass balance is reached, but this observation is difficult to link with changes in the basal conditions. Here, using a 10-yr dataset, consisting of surface topography and surface velocity observations along a flow line for 25 dates, we have reconstructed the evolution of the basal conditions prior to and during the 1982–1983 surge. The model solves the full-Stokes problem along the central flow line using the finite element method. For the 25 dates of the dataset, the basal friction parameter distribution is inferred using the inverse method proposed by Arthern and Gudmundsson (2010. This method is here slightly modified by incorporating a regularisation term in the cost function to avoid short wavelength changes in the friction parameter. Our results indicate that dramatic changes in the basal conditions occurred between 1973 to 1983. Prior to the surge, periodic changes can be observed between winter and summer, with a regular increase of the sliding from 1973 to 1982. During the surge, the basal friction decreased dramatically and an area of very low friction moved from the upper part of the glacier to its terminus. Using a more complex friction law, these changes in basal sliding are then interpreted in terms of basal water pressure. Our results support that dramatic changes took place in the subglacial drainage system of Variegated Glacier, moving from a relatively efficient drainage system prior to the surge to an inefficient one during the surge. By reconstructing the water pressure evolution at the base of the glacier it is possible to propose a scenario for the hydrological history leading to the occurrence of a surge.

Stomatal Responses to Light and Drought Stress in Variegated Leaves of Hedera helix1

Science.gov (United States)

Aphalo, Pedro J.; Sánchez, Rodolfo A.

1986-01-01

Direct and indirect mechanisms underlying the light response of stomata were studied in variegated leaves of the juvenile phase of Hedera helix L. Dose response curves of leaf conductance were measured with blue and red light in leaves kept in normal or in an inverted position. In the green portions of the leaves, the sensitivity to blue light was nearly 100 times higher than that to red light. No response to red light was observed in the white portions of the leaves up to 90 micromoles per square meter per second. Red light indirectly affected leaf conductance while blue light had a direct effect. Leaf conductance was found to be more sensitive to drought stress and showed a more persistent aftereffect in the white portions of the leaves. A differential effect of drought stress on the responses to blue and red light was also observed. PMID:16664900

Weakener of white (Wow), a gene that modifies the expression of the white eye color locus and that suppresses position effect variegation in Drosophila melanogaster.

Science.gov (United States)

Birchler, J A; Bhadra, U; Rabinow, L; Linsk, R; Nguyen-Huynh, A T

1994-08-01

A locus is described in Drosophila melanogaster that modifies the expression of the white eye color gene. This trans-acting modifier reduces the expression of the white gene in the eye, but elevates the expression in other adult tissues. Because of the eye phenotype in which the expression of white is lessened but not eliminated, the newly described locus is called the Weakener of white (Wow). Northern analysis reveals that Wow can exert an inverse or direct modifying effect depending upon the developmental stage. Two related genes, brown and scarlet, that are coordinately expressed with white, are also affected by Wow. In addition, Wow modulates the steady state RNA level of the retrotransposon, copia. When tested with a white promoter-Alcohol dehydrogenase reporter. Wow confers the modifying effect to the reporter, suggesting a requirement of the white regulatory sequences for mediating the response. In addition to being a dosage sensitive regulator of white, brown, scarlet and copia, Wow acts as a suppressor of position effect variegation. There are many dosage sensitive suppressors of position effect variegation and many dosage-sensitive modifiers of gene expression. The Wow mutations provide evidence for an overlap between the two types of modifiers.

FitzPatrick Lecture: King George III and the porphyria myth - causes, consequences and re-evaluation of his mental illness with computer diagnostics.

Science.gov (United States)

Peters, Timothy

2015-04-01

Recent studies have shown that the claim that King George III suffered from acute porphyria is seriously at fault. This article explores some of the causes of this misdiagnosis and the consequences of the misleading claims, also reporting on the nature of the king's recurrent mental illness according to computer diagnostics. In addition, techniques of cognitive archaeology are used to investigate the nature of the king's final decade of mental illness, which resulted in the appointment of the Prince of Wales as Prince Regent. The results of this analysis confirm that the king suffered from bipolar disorder type I, with a final decade of dementia, due, in part, to the neurotoxicity of his recurrent episodes of acute mania. © 2015 Royal College of Physicians.

Effects of Elevated Ozone on Polka Dot Plant (Hypoestes phyllostachya) with Variegated Leaves.

Science.gov (United States)

Sui, J X; Wen, M X; Jia, L L; Chen, Y J; Li, C H; Zhang, L

2017-10-01

In this study, impacts of O 3 on four cultivars ('Rose', 'Pink', 'Blush' and 'White') of the polka dot plant with variegated leaves were investigated for the first time. Ozone fumigation [(120 ± 20 ppb) for 14 days (8 h day -1 , from 8:30 to 16:30)] resulted in visible foliar injuries, decreased contents of pigments (chlorophyll a and b, and carotenoid), the inhibition of photosynthesis, the increase of quantum yield of non-regulated heat dissipation and fluorescence emission (Y(NO)), and the damage of cell membrane. Elevated O 3 increased the content of anthocyanin (Ant). 'White' showed the highest, and 'Rose' the lowest amount of injured leaf area, indicating that the former was the most sensitive, and the latter the most tolerant to O 3 stress. After O 3 exposure, the highest Ant content was found in 'Rose', followed by 'Pink', 'Blush', and 'White'. Levels of Ant were likely responsible for the different sensitivities to O 3 due to their roles in photoprotection.

Elemental composition changes in citrus affected by the CVC disease

International Nuclear Information System (INIS)

Nadai Fernandes de, A.A.; Tagliaferro, F.S.; Turra, C.; Franca de, E.J.; Bacchi, M.A.

2008-01-01

The citrus variegated chlorosis (CVC) disease results in serious economical losses for the Brazilian citriculture. The influence of CVC disease on the elemental composition of citrus plants was investigated. Leaves of sweet orange varieties Hamlin, Pera Rio and Valencia were collected from healthy and CVC-affected trees for chemical characterization by instrumental neutron activation analysis (INAA). Significant differences between healthy and CVC-affected leaves were identified for Ca, Ce, Co, Eu, Fe, K, La, Na, Nd, Rb, Sc and Sm. Rare earth elements presented consistently higher mass fractions in the healthy leaves. (author)

Alternation of host plants as a survival mechanism of leafhoppers Dilobopterus costalimai and Oncometopia facialis (Hemiptera: Cicadellidae, vectors of the Citrus Variegated Chlorosis (CVC

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Milanez José Maria

2001-01-01

Full Text Available Dilobopterus costalimai (Young and Oncometopia facialis (Signoret are two of the most important species of citrus leafhoppers, vectors of bacterium Xylella fastidiosa which causes the Citrus Variegated Chlorosis (CVC disease. To develop a rearing technique for these species under laboratory conditions, the egg laying preference and nymph development were studied in different breeding systems: Rangpur lime (Citrus limonia and "falso boldo" (Vernonia condensata as host plants. Trials were set up in a randomized block design with three treatments (n=8. Females of D. costalimai had particular preference for ovipositing on Rangpur lime leaves while O. facialis females placed a higher number of eggs on "falso boldo", but it did not differ statistically from the Rangpur lime. The nymphal viability of D. costalimai was null in Rangpur lime and 58% in "falso boldo". For O. facialis the nymphal viability was 25 and 78% in Rangpur lime and "falso boldo", respectively. "Falso boldo" is more suitable as a host plant to rear the two species of citrus leafhoppers. The alternation of host plants seems to be an important survival mechanism of the CVC-vector species, as shown in natural conditions.

Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda.

Science.gov (United States)

Stölzel, Ulrich; Köstler, Erich; Schuppan, Detlef; Richter, Matthias; Wollina, Uwe; Doss, Manfred O; Wittekind, Christian; Tannapfel, Andrea

2003-03-01

To examine the role of hemochromatosis (HFE) gene mutations, which are associated with porphyria cutanea tarda (PCT), in the therapeutic response to chloroquine. We retrospectively analyzed a database (Excel version 2001 [Microsoft Excel, Redmond, Wash]; date range of search, 1985-1999) of chloroquine-treated patients with PCT on whether HFE mutations (C282Y and H63D) might have influenced the clinical response, urinary porphyrin excretion, liver enzyme activities, and serum iron markers. Serum samples and corresponding complete sets of data before and after therapy were available in 62 of 207 patients with PCT who were treated exclusively with chloroquine. Academic teaching hospital. For treatment, low-dose chloroquine diphosphate, 125 to 250 mg twice weekly, was used during a median time of 16 months (range, 12-26 months). Of the 62 German patients with PCT, 37 (60%) carries HFE mutations. Chloroquine therapy was accompanied by clinical remission and reduced urinary porphyrin excretion (P<.001) in the 24 patients (39%) with HFE wild type as well as in 35 HFE heterozygous patients with PCT (56%). Decreases of serum iron markers following chloroquine therapy were limited to patients with PCT and HFE wild type. All patients homozygous for the C282Y mutation (3 [5%] of 62) had high serum iron, ferritin, and transferrin saturation and failed to respond to chloroquine treatment. The therapeutic response to chloroquine was not compromised by C282Y heterozygosity and compound heterozygosity of HFE mutations. Because HFE C282Y homozygotes (+/+) did not respond to chloroquine and a decrease in serum iron concentration was limited to patients with PCT and HFE wild type, phlebotomy should be first-line therapy in patients with PCT and HFE mutations.

Sexual differences in destructive capability and midgut enzyme activities in adult variegated grasshoppers Zonocerus variegatus (LINNAEUS, 1758 (Orthoptera: Pyrgomorphidae

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Ademolu Kehinde O.

2016-12-01

Full Text Available The variegated grasshopper Zonocerus variegatus is a polyphagous insect, feeding on numerous food and cash crops. The present study aimed to investigate the sexual variations in the destructive capability of the adult insects and the composition of leaves damaged by them, as well as in the levels of midgut microbial flora and digestive enzymes (cellulase, amylase and α-glucosidase. The results showed that females consumed and caused more damage to cassava leaves than their male congeners. The leaves damaged by males contained more nutrients than those damaged by females. The gut microbial flora and enzyme assay showed that females had significantly larger colony forming units and a non-significant difference in enzyme activities. It can thus be concluded that adult females are more destructive than males.

Porphyria cutanea tarda

DEFF Research Database (Denmark)

Bygum, A; Brandrup, F; Christiansen, L

2000-01-01

cases are sporadic but can be familiar due to mutations in the URO-D gene located on chromosome number 1. The disease may be exacerbated by environmental factors. Iron accumulation is a characteristic finding and there is an association to hereditary haemochromatosis. Therapeutic venesection reduces...

Peculiarities of 137Cs accumulation by macromycetes in dry bors of Ukrainian Polessye

International Nuclear Information System (INIS)

Orlov, O.O.; Kurbet, T.B.; Kalyish, O.B.; Prishchepa, O.L.

2001-01-01

The main ecological peculiarities of dry bor in Ukrainian Polessye were given. Research were carried out in Central Polessie of Ukraine during 1997 - 1999. Results were obtained due to spectrometric measurement of specific activity of 137 Cs in fruit bodies of mushrooms and in the soil. Species composition of macromycetes was divided on homogeneous groups on intensity of 13 7Cs accumulation. Amanita porphyria, A. muscaria and Tricholoma portentosum belong to the group of weak 137 Cs accumulation from the soil (TF = 15 - 20); Amanita pantherina, A. phalloides, Cantharellus cibarius, Boletus edulis, Tricholoma flavovirens and Laccaria laccata - to the group of moderate radionuclide accumulation (TF = 30 - 55). The group of strong 137 Cs accumulation (TF = 100 - 180) consists of Suillus variegates, S. bovines and Hydnum imbricatum; and group of very strong accumulation (TF 200 - 280) - of Xerocomus badius, Lactarius rufus, Russula xerampelina, Cortinarius varius and Paxillus involutus. Cortinarius sanguineus (with TF 400) is an accumulator of 137 Cs. Comparative evaluation of dry bor was given from the point of view of purchase of edible macromycetes in it

Autonomic Neuropathy

Science.gov (United States)

... risk of autonomic neuropathy. Other diseases. Amyloidosis, porphyria, hypothyroidism and cancer (usually due to side effects from treatment) may also increase the risk of autonomic neuropathy. ...

Porphyria Cutanea Tarda (PCT experience in Victoria, Australia: A case series and literature review

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Quynh Le

2018-01-01

Full Text Available Background Porphyria Cutanea Tarda (PCT is a metabolic disorder resulting from a deficiency of hepatic enzyme uroporphyrinogen decarboxylase (UROD. UROD deficiency results in the accumulation of porphyrins, which are phototoxic and hepatotoxic. PCT patients are at increased risk of developing hepatocellular carcinoma. Aims We aim to describe a series of PCT patients presenting to a tertiary center over 35-year period from the 1980s to December 2015 and review current literature to date on PCT, with a focus on PCT management. Methods A search of the center’s dermatology department and biochemistry database were performed to identify patients diagnosed with PCT. Demographic data, underlying risk factors and management details were obtained. Statistical tests were performed to identify any possible association between the variables of interest. Results 34 patients were included in this study. Mean age of diagnosis was 48 years and there was no gender difference. 12 patients had Hepatitis C infection, 25 had excessive alcohol consumption, 13 had hereditary haemochromatosis. Eight patients developed oestrogen-associated or hormonal replacement therapy (HRT induced PCT. 33 patients (97 per cent responded to venesection. Six (18 per cent patients were prescribed hydroxychloroquine, either alone or concurrently with venesection. They all achieved remission. Average duration of follow up is 13 years. One patient developed hepatocellular carcinoma (HCC. Conclusion Our study has reinforced venesection as an effective treatment for PCT. Low dose hydroxychloroquine can be used in patients where venesection is contraindicated or not tolerated. General measures such as alcohol abstinence, visible violet light protection and trauma avoidance are recommended.

Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature

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Shweta Agarwal

2015-01-01

Full Text Available A 28-year-old presented with complaints of severe pain and redness in the left eye since 2 weeks. He had similar complaints in the right eye 2 years back for which he had undergone a scleral patch graft. Best corrected visual acuity was 20/20 in both eyes. The right had a well vascularized scleral graft and rest of the anterior segment was normal. The left eye had inferior conjunctival congestion with an area of the scleral melt with uveal show just temporal to the limbus in the interpalbebral area. The cornea was clear and anterior chamber was quiet in the left eye. Applanation tonometry and fundus evaluation were normal in both eyes. Physical examination revealed hyperpigmented skin lesion, hypertrichosis and absorption of distal phalanges. Laboratory, ocular and physical findings confirmed the diagnosis of congenital erythropoietic porphyria. He was on oral steroids 40 mg/day since 2 weeks and topical antibiotics and lubricants. He was advised to continue the same and was taken up for scleral patch graft with fibrin glue in the left eye. Postoperatively he was continued on topical and oral steroids and lubricants.3 weeks later the left eye had stabilized however patient came with a melt in the right eye. Since it was an early melt, we went ahead with cyanoacrylate glue and bandage contact lens in the right eye and started him on topical steroids for the right eye also. Three months later both the eyes were stable, and the patient was gradually tapered off the steroids.

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

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Yongjiang Zheng

2018-04-01

Full Text Available Acute intermittent porphyria (AIP is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP. The proband is a 28-year-old Chinese male manifested with severe stomach ache, constipation, nausea and depression. Proband’s father and mother is normal. Proband’s blood sample was collected and genomic DNA was extracted. Whole exome sequencing and Sanger sequencing identified a heterozygous novel single nucleotide deletion (c.809delC in exon 12 of HMBS gene in the proband. This mutation leads to frameshift followed by formation of a truncated (p.Ala270Valfs∗2 HMBS protein with 272 amino acids comparing with the wild type HMBS protein of 361 amino acids. This mutation has not been found in proband’s unaffected parents as well as in 100 healthy normal control. According to the variant interpretation guidelines of American College of Medical Genetics and Genomics (ACMG, this variant is classified as “likely pathogenic” variant. Our findings expand the mutational spectra of HMBS gene related AIP which are significant for screening and genetic diagnosis for AIP.

Acute intermittent porphyria: A single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide

Energy Technology Data Exchange (ETDEWEB)

Lee, G.L.; Astrin, K.H.; Desnick, R.J. [Mount Sinai School of Medicine, New York, NY (United States)

1995-08-28

Acute intermittent porphyria (AIP) is an autosomal-dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, since the life-threatening acute attacks are precipitated by various factors, including drugs, alcohol, fasting, and certain hormones. Biochemical diagnosis is problematic, and the identification of mutations in the HMB-synthase gene provides accurate detection of presymptomatic heterozygotes, permitting avoidance of the acute precipitating factors. By direct solid-phase sequencing, two mutations causing AIP were identified, an adenine deletion at position 629 in exon 11(629delA), which alters the reading frame and predicts premature truncation of the enzyme protein after amino acid 255, and a nonsense mutation in exon 12 (R225X). These mutations were confirmed by either restriction enzyme analysis or family studies of symptomatic patients, permitting accurate presymptomatic diagnosis of affected relatives. 29 refs., 2 figs.

Citrus Functional Genomics and Molecular Modeling in Relation to Citrus sinensis (Sweet Orange) Infection with Xylella fastidiosa (Citrus Variegated Chlorosis).

Science.gov (United States)

Dwivedi, Upendra N; Tiwari, Sameeksha; Prasanna, Pragya; Awasthi, Manika; Singh, Swati; Pandey, Veda P

2016-08-01

Citrus are among the economically most important fruit tree crops in the world. Citrus variegated chlorosis (CVC), caused by Xylella fastidiosa infection, is a serious disease limiting citrus production at a global scale. With availability of citrus genomic resources, it is now possible to compare citrus expressed sequence tag (EST) data sets and identify single-nucleotide polymorphisms (SNPs) within and among different citrus cultivars that can be exploited for citrus resistance to infections, citrus breeding, among others. We report here, for the first time, SNPs in the EST data sets of X. fastidiosa-infected Citrus sinensis (sweet orange) and their functional annotation that revealed the involvement of eight C. sinensis candidate genes in CVC pathogenesis. Among these genes were xyloglucan endotransglycosylase, myo-inositol-1-phosphate synthase, and peroxidase were found to be involved in plant cell wall metabolism. These have been further investigated by molecular modeling for their role in CVC infection and defense. Molecular docking analyses of the wild and the mutant (SNP containing) types of the selected three enzymes with their respective substrates revealed a significant decrease in the binding affinity of substrates for the mutant enzymes, thus suggesting a decrease in the catalytic efficiency of these enzymes during infection, thereby facilitating a favorable condition for infection by the pathogen. These findings offer novel agrigenomics insights in developing future molecular targets and strategies for citrus fruit cultivation in ways that are resistant to X. fastidiosa infection, and by extension, with greater harvesting efficiency and economic value.

[Skin and chronic kidney disease].

Science.gov (United States)

Rizzo, Raffaella; Mancini, Elena; Santoro, Antonio

2014-01-01

Kidneys and skin are seldom considered associated, but their relationship is more closer than generally believed. In some immunological diseases (SLE...) and genetic syndromes (tuberous sclerosis, Fabrys disease...) the cutaneous manifestations are integral parts of the clinical picture. In advanced uremia, besides the well-known itching skin lesions, calciphylaxis may appear, a typical example of cutaneous involvement secondary to the metabolic complications (calcium-phosphate imbalance) of the renal disease. Nephrogenic systemic fibrosis appears only in patients with renal failure and it has a very severe prognosis due to the systemic organ involvement. Moreover, there is a heterogeneous group of metabolic diseases, with renal involvement, that may be accompanied by skin lesions, either related to the disease itself or to its complications (diabetes mellitus, porphyrias). In systemic amyloidosis, fibrils may deposit even in dermis leading to different skin lesions. In some heroin abusers, in the presence of suppurative lesions in the sites of needle insertion, renal amyloidosis should be suspected, secondary to the chronic inflammation. Atheroembolic disease is nowadays frequently observed, as a consequence of the increasing number of invasive intravascular manoeuvres. Skin manifestations like livedo reticularis or the blue toe syndrome are the most typical signs, but often renal dysfunction is also present. In all these conditions, the skin lesion may be a first sign, a warning, that should arouse the suspicion of a more complex pathology, even with renal involvement. Being aware of this relationship is fundamental to accelerate the diagnostic process.

Disease: H00995 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available d vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting ...otein S, and protein Z. VKCFD leads to a bleeding tendency with a variegate clini

Porphyrin Tests

Science.gov (United States)

... Disorders Fibromyalgia Food and Waterborne Illness Fungal Infections Gout Graves Disease Guillain-Barré Syndrome Hashimoto Thyroiditis Heart ... Most porphyrias are inherited, the result of a gene mutation . They may be classified according to the ...

Pseudoporfyri er et symptomkompleks

DEFF Research Database (Denmark)

Velander, Marie Juul; Thorsteinsdóttir, Sunna; Bygum, Anette

2015-01-01

Pseudoporphyria is a photosensitive bullous disease, which resembles porphyria cutanea tarda. Normal porphyrin levels in urine, stool and blood define pseudoporphyria. Pseudoporphyria is associated with chronic renal failure, haemodialysis, a variety of drugs (e.g. naproxen, nabumetone, furosemide...

Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient

DEFF Research Database (Denmark)

Klarskov, Louise; Mogensen, Anne Mellon; Jespersen, Niels

2011-01-01

Klarskov L, Mogensen AM, Jespersen N, Ingeholm P, Holck S. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient. APMIS 2011; 119: 393-8. A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma in the i......Klarskov L, Mogensen AM, Jespersen N, Ingeholm P, Holck S. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient. APMIS 2011; 119: 393-8. A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma...... during the adenoma carcinoma sequence included the acquisition of CK7 expression in the malignant portion. Gastric mucin may play a role in the initial step of the neoplastic evolution and CK7 may denote neoplastic progression. This case confirms the notion of a widely variegated morphology of precursor...

Ekstrahepatiske manifestationer af hepatitis C-virus-infektion

DEFF Research Database (Denmark)

Risum, Malene

2011-01-01

Hepatitis C does not only affect the liver, but also manifests outside the liver. The skin, kidneys and nervous system are often involved due to mixed cryoglobulinaemia. Porphyria cutanea tarda, lymphoma and thyroid diseases among others can also attend a chronic infection, but the exact...

Low-Dose Hydroxychloroquine is as Effective as Phlebotomy in Treatment of Patients with Porphyria Cutanea Tarda

Science.gov (United States)

Singal, Ashwani K.; Kormos-Hallberg, Csilla; Lee, Chul; Sadagoparamanujam, V.-M.; Grady, James J.; Freeman, Daniel H.; Anderson, Karl E.

2012-01-01

Background & Aims Porphyria cutanea tarda (PCT) is an iron-related disorder caused by reduced activity of hepatic uroporphyrinogen decarboxylase (UROD); it can be treated by phlebotomy or low doses of hydroxychloroquine. We performed a prospective pilot study to compare the efficacy and safety of these therapies. Methods We analyzed data from 48 consecutive patients with well-documented PCT to characterize susceptibility factors; patients were treated with phlebotomy (450 mL, every 2 weeks until they had serum ferritin levels of 20 ng/mL) or low-dose hydroxychloroquine (100 mg orally, twice weekly, until at least 1 month after they had normal plasma levels of porphyrin). We compared the time required to achieve a normal plasma porphyrin concentration (remission, the primary outcome) for 17 patients treated with phlebotomy and 13 treated with hydroxychloroquine. Results The time to remission was a median 6.9 months for patients that received phlebotomy and 6.1 months for patients treated with hydroxychloroquine treatment (6.7 and 6.5 months for randomized patients), a difference that was not significant (Log Rank P=.06 and P=.95, respectively). The sample size was insufficient to confirm noninferiority of hydroxychloroquine treatment (hazard ratio [HR], 2.19; 95% confidence interval [CI], 0.95–5.06) for all patients. Patients that received hydroxychloroquine had substantially better compliance. There were no significant side effects of either treatment. Conclusions Hydroxychloroquine, 100 mg twice weekly, is as effective and safe as phlebotomy in patients with PCT, although noninferiority was not established. Given these results, higher-dose regimens of hydroxychloroquine, which have more side effects, do not seem justified. Compliance was better and projected costs were lower for hydroxychloroquine than phlebotomy treatment. Long-term studies are needed to compare durability of response. PMID:22985607

A novel FKRP-related muscular dystrophy founder mutation in South ...

African Journals Online (AJOL)

porphyria variegata, familial hypercholesterolaemia, Gaucher's dis- ease and autosomal recessive polycystic kidney disease.[7-11]. FKRP founder mutations have been described in a number of populations around the world, for example the c.826C>A. (p.Leu276Ile) FKRP mutation in 20 LGMD German patients[12].

Molybdenite Re-Os dating of Mo-Th-Nb-REE rich marbles: pre-Variscan processes in Moldanubian Variegated Group (Czech Republic

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Drábek Milan

2015-06-01

Full Text Available In an effort to contribute to the discussion concerning the age of rocks of the Moldanubian Variegated Group, we have undertaken Re-Os dating of molybdenite of banded carbonatite-like marbles (CLM from the graphite mine Václav at Bližná (Southern Bohemia, which belong to the metamorphic sequence of this group. The Re-Os model ages for the molybdenites range between 493 and 497 Ma and apparently correspond to the early stages of metamorphism connected with pre-Variscan rift-related tectono-metamorphic events, which affected and recrystallized sedimentary CLM material rich in Mo-Th-Nb-REE. The molybdenite bearing carbonatite like marbles situated in the footwall of Bližná graphite mine have been interpreted as carbonates with a large share of volcano-detritic material derived from contemporaneous primitive alkaline (carbonatite-like volcanism deposited in a shallow marine lagoonal environment. There is no geological evidence for the participation of fluids mobilized from host rocks in the formation of the CLM. Because the Re-Os chronometer in molybdenite is demonstrably stable through later Variscan facies metamorphism, the molybdenite chronometer has not been affected by subsequent thermal overprints associated with the Variscan orogeny.

Neuropathology and Neurochemistry of Nonmotor Symptoms in Parkinson's Disease

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Isidro Ferrer

2011-01-01

Full Text Available Parkinson disease (PD is no longer considered a complex motor disorder characterized by Parkinsonism but rather a systemic disease with variegated non-motor deficits and neurological symptoms, including impaired olfaction, autonomic failure, cognitive impairment, and psychiatric symptoms. Many of these alterations appear before or in parallel with motor deficits and then worsen with disease progression. Although there is a close relation between motor symptoms and the presence of Lewy bodies (LBs and neurites filled with abnormal -synuclein, other neurological alterations are independent of the amount of -synuclein inclusions in neurons and neurites, thereby indicating that different mechanisms probably converge in the degenerative process. Involvement of the cerebral cortex that may lead to altered behaviour and cognition are related to several convergent factors such as (a abnormal -synuclein and other proteins at the synapses, rather than LBs and neurites, (b impaired dopaminergic, noradrenergic, cholinergic and serotoninergic cortical innervation, and (c altered neuronal function resulting from reduced energy production and increased energy demands. These alterations appear at early stages of the disease and may precede by years the appearance of cell loss and cortical atrophy.

porphyria, a familial disease: its diagnosis and treatment

African Journals Online (AJOL)

letter they should show to any doctor they may consult • in future.' ... decide which have done so before adult life is reached. ..... lyte balance must be carefully watched and maintained by ... fully and the best method is to work out a family tree,.

Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria.

Science.gov (United States)

Marcos, Josep; Ibañez, Maria; Ventura, Rosa; Segura, Jordi; To-Figueras, Jordi; Pozo, Oscar J

2015-07-01

We document the presence of a previously unknown species in the urine of patients with acute intermittent porphyria (AIP). The compound was fully characterised by liquid chromatography tandem mass spectrometry. Interpretation of both full spectrum acquisition and product ion spectra acquired in positive and negative ionisation modes by quadrupole time of flight MS allowed for the identification of a condensation product arising from porphobilinogen (PBG, increased in the urine of AIP patients) and indolyl-3-acryloylglycine (IAG, derived from indolylacrylic acid and present in human urine). The structure was unequivocally confirmed through comparison between the selected reaction monitoring chromatograms obtained from the urinary species and the condensation product qualitatively synthesised in the laboratory. Owing to the large amounts of both PBG and IAG in urine of AIP patients, the possible ex vivo formation of PBG-IAG in urine samples was evaluated. The product was spontaneously formed at room temperature, at 4 °C and even during storage at -20 °C when spiking a control sample with PBG. A positive correlation was found between PBG and PBG-IAG in samples collected from AIP patients. However, no correlation was found between PBG-IAG and IAG. Purified PBG-IAG did not form the characteristic chromogen after application of p-dimethylaminobenzaldehyde in HCl, thus suggesting that the current techniques used to measure PBG in urine of AIP patients based on Ehlrich's reaction do not detect this newly characterised PBG-IAG fraction. Copyright © 2015 John Wiley & Sons, Ltd.

Circadian variation in metabolite and enzyme activities in the femoral and thoracic muscles of adult variegated grasshoppers, Zonocerus variegatus (Linnaeus, 1758 (Orthoptera: Pyrgomorphidae

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Ademolu Kehinde Olutoyin

2018-03-01

Full Text Available The African variegated grasshopper, Zonocerus variegatus, exhibits daily variations in its feeding and destructive activities. A study to investigate circadian variation in metabolites (lipids, protein, glucose, K+, Ca2+, Mg2+, Cl− concentrations and enzymes (lipase, amylase, proteinase, α-glucosidase activities in the femoral and thoracic muscles of adult Z. variegatus was carried out by collecting samples at 06:00, 12:00, 18:00 and 24:00 hrs GMT. The four enzymes were present throughout the day in both thoracic and femoral muscles but at varying levels. Significantly (p<0.05 higher enzymes activities were measured during the day (between 06:00 and 18:00 hours GMT (except proteinase than at night (24:00 hrs. Organic substances in the two tissues were present in significantly higher concentrations during the day than at night. Similarly, significantly more inorganic substances were recorded in the afternoon (12:00-18:00 hrs than at night in both femoral and thoracic muscles. It can thus be concluded that locomotor activities in Z. variegatus reach a peak during the day.

Skin diseases associated with Agent Orange and other organochlorine exposures.

Science.gov (United States)

Patterson, Andrew T; Kaffenberger, Benjamin H; Keller, Richard A; Elston, Dirk M

2016-01-01

Organochlorine exposure is an important cause of cutaneous and systemic toxicity. Exposure has been associated with industrial accidents, intentional poisoning, and the use of defoliants, such as Agent Orange in the Vietnam War. Although long-term health effects are systematically reviewed by the Institute of Medicine, skin diseases are not comprehensively assessed. This represents an important practice gap as patients can present with cutaneous findings. This article provides a systematic review of the cutaneous manifestations of known mass organochlorine exposures in military and industrial settings with the goal of providing clinically useful recommendations for dermatologists seeing patients inquiring about organochlorine effects. Patients with a new diagnosis of chloracne, porphyria cutanea tarda, cutaneous lymphomas (non-Hodgkin lymphoma), and soft-tissue sarcomas including dermatofibrosarcoma protuberans and leiomyosarcomas should be screened for a history of Vietnam service or industrial exposure. Inconclusive evidence exists for an increased risk of other skin diseases in Vietnam veterans exposed to Agent Orange including benign fatty tumors, melanomas, nonmelanoma skin cancers, milia, eczema, dyschromias, disturbance of skin sensation, and rashes not otherwise specified. Affected veterans should be informed of the uncertain data in those cases. Referral to Department of Veterans Affairs for disability assessment is indicated for conditions with established associations. Copyright © 2015 American Academy of Dermatology, Inc. All rights reserved.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Science.gov (United States)

Scott, Eric M; Halees, Anason; Itan, Yuval; Spencer, Emily G; He, Yupeng; Azab, Mostafa Abdellateef; Gabriel, Stacey B; Belkadi, Aziz; Boisson, Bertrand; Abel, Laurent; Clark, Andrew G; Alkuraya, Fowzan S; Casanova, Jean-Laurent; Gleeson, Joseph G

2016-09-01

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.

Variegated operation of MAPS reactors after enmasse' coolant channel replacement: a tale-tell signature of high standard fuel bundle production quality

International Nuclear Information System (INIS)

Jena, J.K.; Sahu, J.K.; Arularasan, V.; Sivagurnathan, D.; Rathakrishnan, S.; Ramamurthy, K.

2009-01-01

After the Enmasse' Coolant Channel Replacement (EMCCR) of both the reactors of Madras Atomic Power Station (MAPS), they have put up a good performance, as far as core integrity is considered. This is a tale-tell signature of the high quality of the fuel bundles manufactured by Nuclear Fuel Complex (NFC), Hyderabad. Both the reactor cores have been loaded with various types of fuel bundles viz. Natural Uranium (NU), Depleted Uranium (DU), and Deeply Depleted Uranium (DDU) and were operated at different power level with different flux configuration at different stages of operation. Even around 1026 low burn up bundle (<2500 MWD/TeU) were transferred from MAPS-1 to MAPS-2, first time in the history of PHWRS. During all such variegated operations, the Primary Heat Transport (PHT) system 131 I activity, which is synonymous with the core integrity, was maintaining low for most of the reactor operation period. However, recently a low burn up fuel bundle failure has been observed in MAPS-1. Even though the overall failure rate is very low, the cause of such failure needs to be ascertained for taking appropriate action to maintain the high standards of quality in the manufacturing process of the fuel bundles. (author)

Porphyria

Science.gov (United States)

... may include: Beta-carotene supplements to lessen photosensitivity Chloroquine in low doses to reduce levels of porphyrins ... skin Avoid sunlight as much as possible and use sunscreen when outside Eat a high-carbohydrate diet ...

Pulmonary hypertension’s variegated landscape: a snapshot

Science.gov (United States)

Kulik, Thomas J.; Austin, Eric D.

2017-01-01

The many types of pulmonary hypertension (PH) are so protean in their biological origin, histological expression, and natural history that it is difficult to create a summary picture of the disease, or to easily compare and contrast characteristics of one type of PH with another. For newcomers to the field, however, such a picture would facilitate a broad understanding of PH. In this paper, we suggest that four characteristics are fundamental to describing the nature of various types of PH, and that taken together they define a number of patterns of PH expression. These characteristics are histopathology, developmental origin, associated clinical conditions, and potential for resolution. The “snapshot” is a way to concisely display the ways that these signal characteristics intersect in select specific types of PH, and is an effort to summarize these patterns in a way that facilitates a “big picture” comprehension of this disease. PMID:28680566

Enhanced reliability and accuracy for field deployable bioforensic detection and discrimination of Xylella fastidiosa subsp. pauca, causal agent of citrus variegated chlorosis using razor ex technology and TaqMan quantitative PCR.

Science.gov (United States)

Ouyang, Ping; Arif, Mohammad; Fletcher, Jacqueline; Melcher, Ulrich; Ochoa Corona, Francisco Manuel

2013-01-01

A reliable, accurate and rapid multigene-based assay combining real time quantitative PCR (qPCR) and a Razor Ex BioDetection System (Razor Ex) was validated for detection of Xylella fastidiosa subsp. pauca (Xfp, a xylem-limited bacterium that causes citrus variegated chlorosis [CVC]). CVC, which is exotic to the United States, has spread through South and Central America and could significantly impact U.S. citrus if it arrives. A method for early, accurate and sensitive detection of Xfp in plant tissues is needed by plant health officials for inspection of products from quarantined locations, and by extension specialists for detection, identification and management of disease outbreaks and reservoir hosts. Two sets of specific PCR primers and probes, targeting Xfp genes for fimbrillin and the periplasmic iron-binding protein were designed. A third pair of primers targeting the conserved cobalamin synthesis protein gene was designed to detect all possible X. fastidiosa (Xf) strains. All three primer sets detected as little as 1 fg of plasmid DNA carrying X. fastidiosa target sequences and genomic DNA of Xfp at as little as 1 - 10 fg. The use of Razor Ex facilitates a rapid (about 30 min) in-field assay capability for detection of all Xf strains, and for specific detection of Xfp. Combined use of three primer sets targeting different genes increased the assay accuracy and broadened the range of detection. To our knowledge, this is the first report of a field-deployable rapid and reliable bioforensic detection and discrimination method for a bacterial phytopathogen based on multigene targets.

Beach almond (Terminalia catappa, Combretaceae seed production and predation by scarlet macaws (Ara macao and variegated squirrels (Sciurus variegatoides

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Jonathan J. Henn

2014-09-01

Full Text Available Knowledge of ecological impacts of exotic beach almond (Terminalia catappa in the central Pacific of Costa Rica are little known, but studies have found this species to be a potentially important food source for endangered scarlet macaws (Ara macao. In this study, reproductive phenology and seed predation by variegated squirrels (Sciurus variegatoides and scarlet macaws were measured during March and April 2011 on beaches of central Pacific coastal Costa Rica. Seed productivity and predation levels were quantified on a weekly basis for 111 beach almond trees to assess the importance of beach almond as a food source for scarlet macaws and the extent of resource partitioning between seed predators. Seed production of the trees was great (about 194 272 seeds and approximately 67% of seeds were predated by seed predators. Macaws consumed an estimated 49% of seeds while squirrels consumed 18%. Additionally, evidence of resource partitioning between squirrels and macaws was found. Scarlet macaws preferred to feed on the northern side and edge of the canopy while squirrels preferred to feed on the southern and inside parts of the canopy. Both species ate most seeds on the ocean side of the tree. Despite the status of this tree as an exotic species, the beach almond appears to be an important resource for scarlet macaw population recovery. The resource produced by this tree should be taken into account as reforestation efforts continue in Costa Rica. Rev. Biol. Trop. 62 (3: 929-938. Epub 2014 September 01.

Repair of DNA damage in light sensitive human skin diseases

Energy Technology Data Exchange (ETDEWEB)

Horkay, I.; Varga, L.; Tam' asi P., Gundy, S.

1978-12-01

Repair of uv-light induced DNA damage and changes in the semiconservative DNA synthesis were studied by in vitro autoradiography in the skin of patients with lightdermatoses (polymorphous light eruption, porphyria cutanea tarda, erythropoietic protoporphyria) and xeroderma pigmentosum as well as in that of healthy controls. In polymorphous light eruption the semiconservative DNA replication rate was more intensive in the area of the skin lesions and in the repeated phototest site, the excision repair synthesis appeared to be unaltered. In cutaneous prophyrias a decreased rate of the repair incorporation could be detected. Xeroderma pigmentosum was characterized by a strongly reduced repair synthesis.

Soren Kierkegaard (1813-55): a bicentennial pathographical review.

Science.gov (United States)

Schioldann, Johan; Søgaard, Ib

2013-12-01

Researchers in the fields of psychology, psychiatry, medicine and theology have made exhaustive efforts to shed light on the elusive biography/pathography of the great Danish philosopher Søren Kierkegaard (1813-55). This 'bicentennial' article reviews his main pathographical diagnoses of, respectively, possible manic-depressive [bipolar] disease, epilepsy, complex partial seizure disorder, Landry-Guillain-Barré's acute ascending paralysis, acute intermittent porphyria with possible psychiatric manifestations, and syphilidophobia.

Pseudoporfyri er et symptomkompleks

DEFF Research Database (Denmark)

Velander, Marie Juul; Þorsteinsdóttir, Sunna; Bygum, Anette

2015-01-01

Pseudoporphyria is a photosensitive bullous disease, which resembles porphyria cutanea tarda. Normal porphyrin levels in urine, stool and blood define pseudoporphyria. Pseudoporphyria is associated with chronic renal failure, haemodialysis, a variety of drugs (e.g. naproxen, nabumetone, furosemid......, ciprofloxacin, voriconazole, acitretin), tanning beds and UVA exposure. Treatment consists of UV protection and cessation of suspected agents. Patients in haemodialysis can benefit from treatment with N-acetylcysteine or glutathione....

JIL-1 and Su(var)3-7 Interact Genetically and Counteract Each Other's Effect on Position-Effect Variegation in Drosophila

Science.gov (United States)

Deng, Huai; Cai, Weili; Wang, Chao; Lerach, Stephanie; Delattre, Marion; Girton, Jack; Johansen, Jørgen; Johansen, Kristen M.

2010-01-01

The essential JIL-1 histone H3S10 kinase is a key regulator of chromatin structure that functions to maintain euchromatic domains while counteracting heterochromatization and gene silencing. In the absence of the JIL-1 kinase, two of the major heterochromatin markers H3K9me2 and HP1a spread in tandem to ectopic locations on the chromosome arms. Here we address the role of the third major heterochromatin component, the zinc-finger protein Su(var)3-7. We show that the lethality but not the chromosome morphology defects associated with the null JIL-1 phenotype to a large degree can be rescued by reducing the dose of the Su(var)3-7 gene and that Su(var)3-7 and JIL-1 loss-of-function mutations have an antagonistic and counterbalancing effect on position-effect variegation (PEV). Furthermore, we show that in the absence of JIL-1 kinase activity, Su(var)3-7 gets redistributed and upregulated on the chromosome arms. Reducing the dose of the Su(var)3-7 gene dramatically decreases this redistribution; however, the spreading of H3K9me2 to the chromosome arms was unaffected, strongly indicating that ectopic Su(var)3-9 activity is not a direct cause of lethality. These observations suggest a model where Su(var)3-7 functions as an effector downstream of Su(var)3-9 and H3K9 dimethylation in heterochromatic spreading and gene silencing that is normally counteracted by JIL-1 kinase activity. PMID:20457875

The photodynamic and non-photodynamic actions of porphyrins

Directory of Open Access Journals (Sweden)

S.G. Afonso

1999-03-01

Full Text Available Porphyrias are a family of inherited diseases, each associated with a partial defect in one of the enzymes of the heme biosynthetic pathway. In six of the eight porphyrias described, the main clinical manifestation is skin photosensitivity brought about by the action of light on porphyrins, which are deposited in the upper epidermal layer of the skin. Porphyrins absorb light energy intensively in the UV region, and to a lesser extent in the long visible bands, resulting in transitions to excited electronic states. The excited porphyrin may react directly with biological structures (type I reactions or with molecular oxygen, generating excited singlet oxygen (type II reactions. Besides this well-known photodynamic action of porphyrins, a novel light-independent effect of porphyrins has been described. Irradiation of enzymes in the presence of porphyrins mainly induces type I reactions, although type II reactions could also occur, further increasing the direct non-photodynamic effect of porphyrins on proteins and macromolecules. Conformational changes of protein structure are induced by porphyrins in the dark or under UV light, resulting in reduced enzyme activity and increased proteolytic susceptibility. The effect of porphyrins depends not only on their physico-chemical properties but also on the specific site on the protein on which they act. Porphyrin action alters the functionality of the enzymes of the heme biosynthetic pathway exacerbating the metabolic deficiencies in porphyrias. Light energy absorption by porphyrins results in the generation of oxygen reactive species, overcoming the protective cellular mechanisms and leading to molecular, cell and tissue damage, thus amplifying the porphyric picture.

Ekstrahepatiske manifestationer af hepatitis C-virus-infektion

DEFF Research Database (Denmark)

Risum, Malene

2011-01-01

Hepatitis C does not only affect the liver, but also manifests outside the liver. The skin, kidneys and nervous system are often involved due to mixed cryoglobulinaemia. Porphyria cutanea tarda, lymphoma and thyroid diseases among others can also attend a chronic infection, but the exact...... pathogenesis behind these manifestations is not clearly mapped. Antiviral treatment is reported to induce sustained virological response in more than half of the treated patients with a variable clinical response in the extrahepatic manifestations....

Symptomatic Porphyria

African Journals Online (AJOL)

found in all livers, their numbers varied widely and they were seldom conspicuous in a given cell. The iron was mostly present in peribiliary lysosomes but free ferritin particles were occasionally observed in mito- chondria and the cytoplasmic ground substance in un- stained sections. Moderate amounts of lipid were present.

Avaliação de tangerinas, tangores e tangelos em relação à clorose variegada dos citros Evaluation of mandarines, tangors and tangelos in relation to the citrus variegated chlorosis (CVC

Directory of Open Access Journals (Sweden)

Simone Rodrigues da Silva

2004-04-01

Full Text Available A Clorose Variegada dos Citros (CVC, causada pela bactéria Xylella fastidiosa, é uma séria ameaça à citricultura brasileira, constituindo-se, atualmente, numa das principais doenças dos citros no Brasil. O objetivo desse trabalho foi avaliar cultivares de citros introduzidas quanto à suscetibilidade ou resistência à CVC, em condições de campo. O trabalho foi conduzido em Bebedouro-SP. Os materiais genéticos estudados foram cultivares de tangerinas e híbridos (tangores e tangelos introduzidas de bancos de germoplasma da Itália, Portugal, Espanha e Córsega. O trabalho foi constituído por 56 parcelas, com três plantas das quais uma foi inoculada, empregando-se o método de encostia, utilizando-se de mudas previamente infectadas como fontes da bactéria. Foram avaliados os sintomas da doença mediante observação visual através de notas e teste de PCR, específico para Xylella fastidiosa. Os materiais genéticos que se apresentaram positivos ao PCR, mas não apresentaram sintomas, e os que foram negativos ao PCR, possuem um potencial de utilização em programas de melhoramento genético visando à resistência e/ou à tolerância à doença.The Citrus Variegated Chlorosis (CVC, caused by the bacteria Xylella fastidiosa, is a serious threat to the Brazilian citriculture, being, actually, one of the mains diseases to the citrus in Brazil. The objective of this work was evaluate citrus cultivars, introduced according to the susceptibility or resistance to CVC, in field conditions. The research was carried in Bebedouro city - São Paulo state - Brazil. The genotypes studied were cultivars of mandarines and hybrids (tangors and tangelos, introduced from the germplasm collections of Italy, Portugal, Spain and Corsica. The work was composed by 56 portions, with 3 plants, being one of them inoculated, using the approach graft method, with infected plants. Were evaluated the symptoms of the disease by visual observation and PCR test

Mutations in ash1 and trx enhance P-element-dependent silencing in Drosophila melanogaster.

Science.gov (United States)

McCracken, Allen; Locke, John

2016-08-01

In Drosophila melanogaster, the mini-w(+) transgene in Pci is normally expressed throughout the adult eye; however, when other P or KP elements are present, a variegated-eye phenotype results, indicating random w(+) silencing during development called P-element-dependent silencing (PDS). Mutant Su(var)205 and Su(var)3-7 alleles act as haplo-suppressors/triplo-enhancers of this variegated phenotype, indicating that these heterochromatic modifiers act dose dependently in PDS. Previously, we recovered a spontaneous mutation of P{lacW}ci(Dplac) called P{lacW}ci(DplacE1) (E1) that variegated in the absence of P elements, presumably due to the insertion of an adjacent gypsy element. From a screen for genetic modifiers of E1 variegation, we describe here the isolation of five mutations in ash1 and three in trx that enhance the E1 variegated phenotype in a dose-dependent and cumulative manner. These mutant alleles enhance PDS at E1, and in E1/P{lacW}ci(Dplac), but suppress position effect variegation (PEV) at In(1)w(m)(4). This opposite action is consistent with a model where ASH1 and TRX mark transcriptionally active chromatin domains. If ASH1 or TRX function is lost or reduced, heterochromatin can spread into these domains creating a sink that diverts heterochromatic proteins from other variegating locations, which then may express a suppressed phenotype.

Spectral design flexibility of LED brings better life

Science.gov (United States)

Ou, Haiyan; Corell, Dennis; Ou, Yiyu; Poulsen, Peter B.; Dam-Hansen, Carsten; Petersen, Paul-Michael

2012-03-01

Light-emitting diodes (LEDs) are penetrating into the huge market of general lighting because they are energy saving and environmentally friendly. The big advantage of LED light sources, compared to traditional incandescent lamps and fluorescent light tubes, is the flexible spectral design to make white light using different color mixing schemes. The spectral design flexibility of white LED light sources will promote them for novel applications to improve the life quality of human beings. As an initial exploration to make use of the spectral design flexibility, we present an example: 'no blue' white LED light source for sufferers of disease Porphyria. An LED light source prototype, made of high brightness commercial LEDs applying an optical filter, was tested by a patient suffering from Porphyria. Preliminary results have shown that the sufferer could withstand the light source for much longer time than the standard light source. At last future perspectives on spectral design flexibility of LED light sources improving human being's life will be discussed, with focus on the light and health. The good health is ensured by the spectrum optimized so that vital hormones (melatonin and serotonin) are produced during times when they support human daily rhythm.

Nutritional deficiency in citrus with symptoms of citrus variegated chlorosis disease

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ME. Silva-Stenico

Full Text Available It is well known that citrus plants that have been infected by Xylella fastidiosa display nutritional deficiencies, probably caused by production of extracellular polymers by the bacteria that block normal nutrient flow through the xylem. The aim of this work was to study the mineral composition of specific foliar areas in different stages of infection in citrus. Thus, the concentrations of macro and micronutrients in leaves of citrus infected by X. fastidiosa were measured. Samples from four infected citrus orchards in the State of São Paulo, Brazil, were respectively collected from Santa Rita do Passa Quatro, Neves Paulista, Gavião Peixoto and Paraíso counties. The presence of X. fastidiosa in leaves was confirmed by polymerase chain reaction (PCR using specific PCR primers. To understand the variation in leaf-nutrient content in citrus plants, we used foliar nutrient values from control (non-symptomatic plants as a reference. Chemometric analysis showed that the deficiency of P and K in symptomatic trees for all orchards and high concentrations of Fe, Mn and Zn were observed in chlorotic areas, although other studies revealed deficiency of zinc in leaves. This is the first report showing that a correlation between chlorotic citrus leaf and higher concentrations of Fe, Mn and Zn are observed when infected and healthy plants were compared.

Management of chimera and in vitro mutagenesis for development of new flower color/shape and chlorophyll variegated mutants in chrysanthemum

Energy Technology Data Exchange (ETDEWEB)

Datta, S.K. [CSIR, Madhyamgram Experimental Farm, Bose Institute, Kolkata (India)], E-mail: subodhskdatta@rediffmail.com; Chakrabarty, D [Floriculture Laboratory, National Botanical Research Institute, Lucknow (India)

2008-07-01

Induced mutagenesis has played a major role in the development of many new flower color/shape mutant varieties in ornamentals. The main bottleneck with vegetatively propagated plants is that the mutation appears as a chimera whether developed through bud sport or through induced mutation. The size of the mutant sector varies from a narrow streak on a petal to the entire flower and from a portion of a branch to the entire branch. When a portion of a branch or entire branch is mutated, the mutant tissue can be isolated; on the other hand, a small sector of a mutated branch or flower cannot be isolated using the available conventional propagation techniques. A novel technique has been standardized in our laboratory for the management of chimeric tissues through direct shoot regeneration from chrysanthemum florets. 'Kasturba Gandhi', a large white flowered chrysanthemum, developed few chimeric yellow florets due to spontaneous mutation. Using in vitro protocol new yellow florets were established in pure form. In vitro mutagenesis experiments were conducted treating ray florets of chrysanthemum cultivars using gamma rays. Induced chimeric yellow, white, light yellow, light mauve and dark mauve floret color sectors and chlorophyll variegation in leaves of cv. 'Maghi' (with mauve floret and green leaves) have been established in pure form. Gamma ray induced sectorial yellow florets of cv. 'Lilith' (white floret) and yellow ray florets in both the cvs. 'Purnima' (with white florets) and 'Colchi Bahar' (with red florets) have been isolated in pure form through in vitro management. Induced sectorial flower color/shape mutations in cvs. 'Puja', 'Lalima', 'Flirt', 'Maghi' and 'Sunil' have been isolated in pure form through in vitro culture. Gamma radiation procedure and tissue culture techniques have been optimized to regenerate plants from stem internodes, stem node, shoot tip and ray florets. Present technique has opened a new way for isolating new flower color

Learning about Porphyria

Science.gov (United States)

... HIV, estrogens (such as those used in oral contraceptives and prostate cancer treatment), and possibly smoking, combine ... pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to ...

Premature Calcifications of Costal Cartilages: A New Perspective Premature Calcifications of Costal Cartilages: A New Perspective

International Nuclear Information System (INIS)

Rhomberg, W.; Schuster, A.

2014-01-01

Calcifications of the costal cartilages occur, as a rule, not until the age of 30 years. The knowledge of the clinical significance of early and extensive calcifications is still incomplete. Materials and Methods. A search was made to find patients below the age of 30 years who showed distinct calcifications of their lower costal cartilages by viewing 360 random samples of intravenous pyelograms and abdominal plain films. The histories, and clinical and laboratory findings of these patients were analyzed. Results. Nineteen patients fulfilled the criteria of premature calcifications of costal cartilages (CCCs). The patients had in common that they were frequently referred to a hospital and were treated by several medical disciplines. Nevertheless many complaints of the patients remained unsolved. Premature CCCs were often associated with rare endocrine disorders, inborn errors of metabolism, and abnormal hematologic findings. Among the metabolic disorders there were 2 proven porphyrias and 7 patients with a suspected porphyria but with inconclusive laboratory findings. Conclusion. Premature CCCs are unlikely to be a normal variant in skeletal radiology. The findings in this small group of patients call for more intensive studies, especially in regard to the putative role of a porphyria

Anesthesia for hemicolectomy in a known porphyric with cecal malignancy

Directory of Open Access Journals (Sweden)

B K Naithani

2015-01-01

Full Text Available Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and preparedness for reintubation and ventilatory support. The classical signs of a porphyric crisis such as pain abdomen, vomiting and neuropsychiatric symptoms are masked under general anesthesia and can be confused with postoperative pain and vomiting and postoperative cognitive dysfunction, especially for intra-abdominal surgeries. Eternal vigilance for onset of an acute crisis is imperative. After a crisis of acute intermittent porphyria, residual paresis may persist for years in the absence of further attacks.

7 CFR 29.2408 - Rule 17.

Science.gov (United States)

2010-01-01

... Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... percent of mixed color or variegated leaves or over 30 percent of mixed color and variegated leaves combined shall be classified as “mixed” and designated by the color symbol “M.” ...

7 CFR 29.2632 - Rule 16.

Science.gov (United States)

2010-01-01

... Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... percent of mixed color or variegated leaves or over 30 percent of mixed color and variegated leaves combined shall be classified as “mixed” and designated by the color symbol “M.” ...

The iojap gene in maize

Energy Technology Data Exchange (ETDEWEB)

Martienssen, Robert

2001-12-01

The classical maize mutant iojap (Iodent japonica) has variegated green and white leaves. Green sectors have cells with normal chloroplasts whereas white sectors have cells where plastids fail to differentiate. These mutant plastids, when transmitted through the female gametophyte, do not recover in the presence of wild type Iojap. We cloned the Ij locus, and we have investigated the mechanism of epigenetic inheritance and phenotypic expression. More recently, a modifier of this type of variegation, ''Inhibitor of striate'', has also been cloned. Both the iojap and inhibitor of striate proteins have homologs in bacteria and are members of ancient conserved families found in multiple species. These tools can be used to address fundamental questions of inheritance and variegation associated with this classical conundrum of maize genetics. Since the work of Rhoades there has been considerable speculation concerning the nature of the Iojap gene product, the origin of leaf variegation and the mechanism behind the material inheritance of defective plastids. This has made Iojap a textbook paradigm for cytoplasmic inheritance and nuclear-organellar interaction for almost 50 years. Cloning of the Iojap gene in maize, and homologs in other plants and bacteria, provides a new means to address the origin of heteroplastidity, variegation and cytoplasmic inheritance in higher plants.

Topical problems in the biosynthesis of red blood pigment

International Nuclear Information System (INIS)

Franck, B.

1982-01-01

Uroporphyrinogen III plays a key role in the biosynthesis of heme, the red pigment of blood. In vivo studies with specifically 14 C- and 3 H-labeled precursors have revealed that the formation of uroporphyrinogen III in the organism follows several primary and subsidiary pathways. Model experiments on the pattern of biosynthesis have led to simple and effective methods of synthesizing uroporphyrin analogs and have shwon that their production is strongly favored thermodynamically, The biologically important porphyrins thus available permit a mechanistic explanantion of the light-induced dermatoses in porphyria diseases and suggest promising medical applications in diagnosis and therapy. (orig.)

Somatically segregating clone of apomictic maize-tripsacum hybrid

International Nuclear Information System (INIS)

Yudin, B.F.; Lukina, L.A.

1988-01-01

The results of further study on clone AM-5, isolated in the progeny of γ-irradiated plants of the apomictic hybrid of maize with tripsacum (2n = 38) are reported. The variegated-leaf seedlings of the clone segregate somatically and produce variegated, mottled, green (phenotypically normal) plants in different ratios in the apomictic progenies. The variegated, and to a lesser degree, green segregants segregate further. The mottled apomictics as well as mottled branches of variegated seedlings maintain their phenotype on transplantation, however, these is a progressive enhancement of the characters of vegetative lethality. Lethals of two extra maize genomes to the AM-5 nucleus does not affect significantly the scope and nature of segregation. At the same time, the loss of tripsacum genome restores normal phenotype. Clone AM-5 is an example of hybrid apomictic form causing significant morphological variability, which is, nevertheless, not related with apomictic and reversion to the sexual process

Proteomic Analysis Reveals the Leaf Color Regulation Mechanism in Chimera Hosta "Gold Standard" Leaves.

Science.gov (United States)

Yu, Juanjuan; Zhang, Jinzheng; Zhao, Qi; Liu, Yuelu; Chen, Sixue; Guo, Hongliang; Shi, Lei; Dai, Shaojun

2016-03-08

Leaf color change of variegated leaves from chimera species is regulated by fine-tuned molecular mechanisms. Hosta "Gold Standard" is a typical chimera Hosta species with golden-green variegated leaves, which is an ideal material to investigate the molecular mechanisms of leaf variegation. In this study, the margin and center regions of young and mature leaves from Hosta "Gold Standard", as well as the leaves from plants after excess nitrogen fertilization were studied using physiological and comparative proteomic approaches. We identified 31 differentially expressed proteins in various regions and development stages of variegated leaves. Some of them may be related to the leaf color regulation in Hosta "Gold Standard". For example, cytosolic glutamine synthetase (GS1), heat shock protein 70 (Hsp70), and chloroplastic elongation factor G (cpEF-G) were involved in pigment-related nitrogen synthesis as well as protein synthesis and processing. By integrating the proteomics data with physiological results, we revealed the metabolic patterns of nitrogen metabolism, photosynthesis, energy supply, as well as chloroplast protein synthesis, import and processing in various leaf regions at different development stages. Additionally, chloroplast-localized proteoforms involved in nitrogen metabolism, photosynthesis and protein processing implied that post-translational modifications were crucial for leaf color regulation. These results provide new clues toward understanding the mechanisms of leaf color regulation in variegated leaves.

Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression.

Science.gov (United States)

Unzu, C; Melero, I; Hervás-Stubbs, S; Sampedro, A; Mancheño, U; Morales-Kastresana, A; Serrano-Mendioroz, I; de Salamanca, R E; Benito, A; Fontanellas, A

2015-11-01

Helper-dependent adenoviral (HDA) vectors constitute excellent gene therapy tools for metabolic liver diseases. We have previously shown that an HDA vector encoding human porphobilinogen deaminase (PBGD) corrects acute intermittent porphyria mice. Now, six non-human primates were injected in the left hepatic lobe with the PBGD-encoding HDA vector to study levels and persistence of transgene expression. Intrahepatic administration of 5 × 10(12) viral particles kg(-1) (10(10) infective units kg(-1)) of HDA only resulted in transient (≈14 weeks) transgene expression in one out of three individuals. In contrast, a more prolonged 90-day immunosuppressive regimen (tacrolimus, mycophenolate, rituximab and steroids) extended meaningful transgene expression for over 76 weeks in two out of two cases. Transgene expression under immunosuppression (IS) reached maximum levels 6 weeks after HDA administration and gradually declined reaching a stable plateau within the therapeutic range for acute porphyria. The non-injected liver lobes also expressed the transgene because of vector circulation. IS controlled anticapsid T-cell responses and decreased the induction of neutralizing antibodies. Re-administration of HDA-hPBGD at week +78 achieved therapeutically meaningful transgene expression only in those animals receiving IS again at the time of this second vector exposure. Overall, immunity against adenoviral capsids poses serious hurdles for long-term HDA-mediated liver transduction, which can be partially circumvented by pharmacological IS.

Adverse Health Effects in Humans Exposed to 2,3,7,8-Tetrachlorodibenzo-p-Dioxin(TCDD)

Czech Academy of Sciences Publication Activity Database

Pelclová, D.; Urban, P.; Preiss, J.; Lukáš, E.; Fenclová, Z.; Navrátil, Tomáš; Dubská, Z.; Šenholdová, Z.

2006-01-01

Roč. 21, č. 2 (2006), s. 119-138 ISSN 0048-7554 Institutional research plan: CEZ:AV0Z40400503 Keywords : chlorane * porphyria * diabetes * atherosclerosis Subject RIV: CF - Physical ; Theoretical Chemistry

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.

Science.gov (United States)

Millot, Sarah; Delaby, Constance; Moulouel, Boualem; Lefebvre, Thibaud; Pilard, Nathalie; Ducrot, Nicolas; Ged, Cécile; Lettéron, Philippe; de Franceschi, Lucia; Deybach, Jean Charles; Beaumont, Carole; Gouya, Laurent; De Verneuil, Hubert; Lyoumi, Saïd; Puy, Hervé; Karim, Zoubida

2017-02-01

Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucidated. Here, in a congenital erythropoietic porphyria mouse model, we evaluate the impact of hemolysis and regenerative anemia on hepcidin synthesis and iron metabolism. Hemolysis was confirmed by a complete drop in haptoglobin, hemopexin and increased plasma lactate dehydrogenase, an increased red blood cell distribution width and osmotic fragility, a reduced half-life of red blood cells, and increased expression of heme oxygenase 1. The erythropoiesis-induced Fam132b was increased, hepcidin mRNA repressed, and transepithelial iron transport in isolated duodenal loops increased. Iron was mostly accumulated in liver and spleen macrophages but transferrin saturation remained within the normal range. The expression levels of hemoglobin-haptoglobin receptor CD163 and hemopexin receptor CD91 were drastically reduced in both liver and spleen, resulting in heme- and hemoglobin-derived iron elimination in urine. In the kidney, the megalin/cubilin endocytic complex, heme oxygenase 1 and the iron exporter ferroportin were induced, which is reminiscent of significant renal handling of hemoglobin-derived iron. Our results highlight ironbound hemoglobin urinary clearance mechanism and strongly suggest that, in addition to the sequestration of iron in macrophages, kidney may play a major role in protecting hepatocytes from iron overload in chronic hemolysis. Copyright© Ferrata Storti Foundation.

Porphyria Cutanea Tarda (PCT)

Science.gov (United States)

... effective than phlebotomy or low dose hydroxychloroquine or chloroquine in treating individuals with PCT. However, these drugs may play a role in treating affected individuals in whom the use of the two front-line therapies is not ...

Deficiência hídrica agrava os sintomas fisiológicos da clorose variegada dos citros em laranjeira 'Natal' Water deficiency intensifies physiological symptoms of citrus variegated clorosis in 'Natal' sweet orange plants

Directory of Open Access Journals (Sweden)

Eduardo Caruso Machado

2007-01-01

Full Text Available A clorose variegada dos citros (CVC é uma doença que tem promovido sérios prejuízos aos laranjais das regiões Norte e Nordeste do Estado de São Paulo, onde a deficiência hídrica e as altas temperaturas são mais frequentes. Assim, este trabalho objetivou a avaliação do efeito da deficiência hídrica no desenvolvimento de sintomas fisiológicos em laranjeira 'Natal' com CVC. Foram realizadas medidas do potencial da água na folha, transpiração, condutância estomática e assimilação de CO2, em laranjeiras em condições naturais e submetidas à irrigação. O delineamento experimental foi em blocos ao acaso com cinco repetições. A condutância estomática, a transpiração diária e o potencial da água na folha foram menores nas plantas com CVC. A assimilação diária de CO2 foi menor nas laranjeiras com CVC mesmo quando irrigadas. De fato, a irrigação diminuiu o efeito da CVC, porém não impediu o estabelecimento da doença em laranjeiras inoculadas com Xylella fastidiosa. Em relação aos demais tratamentos, as plantas infectadas e mantidas sob condições naturais (sem irrigação apresentaram maior comprometimento das trocas gasosas, mesmo quando as avaliações fisiológicas foram feitas em período úmido (verão.Citrus variegated chlorosis (CVC is a disease that has caused serious economical losses in citrus grove located in the North and Northeastern regions of São Paulo State, where water deficiency and high temperature occur frequently. Therefore, the aim of this work was to evaluate the influence of water deficiency on the development of physiological symptoms in 'Natal' sweet orange plants with CVC. Measurements of leaf water potential, transpiration, stomatal conductance e CO2 assimilation were taken in plants under natural conditions and submitted to irrigation. The experimental design was in randomized blocks, with five replications. Stomatal conductance, daily transpiration and leaf water potential were

Crystal structure of a small heat-shock protein from Xylella fastidiosa reveals a distinct high-order structure.

Science.gov (United States)

Fonseca, Emanuella Maria Barreto; Scorsato, Valéria; Dos Santos, Marcelo Leite; Júnior, Atilio Tomazini; Tada, Susely Ferraz Siqueira; Dos Santos, Clelton Aparecido; de Toledo, Marcelo Augusto Szymanski; de Souza, Anete Pereira; Polikarpov, Igor; Aparicio, Ricardo

2017-04-01

Citrus variegated chlorosis is a disease that attacks economically important citrus plantations and is caused by the plant-pathogenic bacterium Xylella fastidiosa. In this work, the structure of a small heat-shock protein from X. fastidiosa (XfsHSP17.9) is reported. The high-order structures of small heat-shock proteins from other organisms are arranged in the forms of double-disc, hollow-sphere or spherical assemblies. Unexpectedly, the structure reported here reveals a high-order architecture forming a nearly square cavity.

Mutaciones del gen de la Hemocromatosis en donantes de sangre voluntarios y en pacientes con Porfiria cutánea tarda en Chile Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients

Directory of Open Access Journals (Sweden)

Carlos Wolff F

2006-10-01

Full Text Available La acumulación de hierro hepático asociada a mutaciones en el gen HFE de la hemocromatosis hereditaria (HH en los pacientes con porfiria cutánea tarda (PCT podría tener un papel en la etiología y en la expresión clínica de esta enfermedad. Se estudió la frecuencia de las mutaciones H63D y C282Y en un grupo de pacientes con PCT y se la comparó con la observada en un grupo de donantes voluntarios de sangre. Los pacientes con PCT fueron catalogados como portadores de la forma hereditaria o adquirida de la enfermedad, según presentaran o no mutaciones en el gen uroporfirinógeno decarboxilasa (UROD. El 50% de los pacientes con PCT eran portadores de la forma genética de la enfermedad, porcentaje significativamente mayor que lo informado en otras series. El 23% de los donantes voluntarios de sangre eran portadores de la mutación H63D y 2.4% lo era de la mutación C282Y. Frecuencias similares a lo encontrado por otros autores en población chilena de etnia blanca, en población argentina y española, pero significativamente más alta que lo encontrado en estudios en población aborigen araucana. Esto tiene, probablemente, relación con el predominio de ascendencia española en la población blanca chilena. La frecuencia de mutación en el gen HFE en pacientes con PCT no fue significativamente diferente que la observada en donantes voluntarios de sangre. Tampoco hubo diferencias significativas en la frecuencia de estas mutaciones entre los casos con PCT adquirida respecto de aquellos en que ésta era de origen genético. Los resultados obtenidos no permiten afirmar que exista asociación entre la PCT y la condición de portador de mutaciones del gen HFE de la hemocromatosis hereditaria.In patients with porphyria cutanea tarda (PCT, hepatic iron accumulation associated to hereditary hemochromatosis (HH could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were

Testing the process of drilling - analysis of drilling performance in variegated sandstone and Keuper in Northern Germany; Der Bohrprozess auf dem Pruefstand - Analyse der Bohrleistungen im Buntsandstein und Keuper in Norddeutschland

Energy Technology Data Exchange (ETDEWEB)

Pust, G.; Tschaffler, H. [Mobil Erdgas Erdoel GmbH, Celle (Germany); Grunwald, R. [BEB Erdgas und Erdoel GmbH, Nienhagen (Germany); Gloth, H. [TU Bergakademie Freiberg (Germany); Marx, C. [ITE, Clausthal-Zellerfeld (Germany)

1998-12-31

The aim of the project launched jointly by DGMK and 5 companies from the German oil- and gas industry and two institutes for drilling technologies was to find suitable ways in which the drilling progress in formations with bad drilling conditions in Northern Germany, i.e. lower and middle variegated sandstone and Keuper can be increases in order to bring costs down. The borehole sunk in Northern Germany were surveyed and inventorised. Data were subjected to a thorough statistical analysis in order to obtain optimal drilling parameters and improve the drilling tools. Basic studies on rock damaging were also to be included in order to better understand the processes. Finally, the project aims at realising the optimal drilling parameters, increase drilling progress, use improved drilling machinery and thus cut costs. (orig.) [Deutsch] Ziel des DGMK-Gemeinschaftsprojektes mit 5 Firmen der deutschen Erdoel- und Erdgasindustrie sowie 2 bohrtechnischen Instituten war es, durch geeignete Massnahmen den Bohrfortschritt in schlechtbohrbaren Formationen in Norddeutschland, naemlich unterer und mittlerer Buntsandstein sowie Keuper, zu erhoehen und damit einen Beitrag zur Kostensenkung zu leisten. Um dieses Ziel zu erreichen, sollte eine Bestandsaufnahme der in Norddeutschland abgeteuften Bohrungen erfolgen. Die Daten sollten einer eingehenden statistischen Auswertung unterzogen werden. Hieraus sollten optimale Bohrparameter und Verbesserungen der Bohrwerkzeuge abgeleitet werden. Ferner sollten grundlegende Untersuchungen zur Gesteinszerstoerung herangezogen werden, um ein besseres Verstaendnis fuer die ablaufenden Prozesse zu bekommen. Durch die Realisierung optimaler Bohrparameter und den Einsatz verbesserter Bohrwerkszeuge sollte schliesslich die Erhoehung des Bohrfortschritts und damit eine Senkung der Kosten erreicht werden. (orig.)

Secon dary dyslipidaemia

African Journals Online (AJOL)

2009-03-20

Mar 20, 2009 ... Lifest yle. Diet is regarded as the major reason for the enormous variation in cholesterol levels ... be major components of diet and may also contribute to obesity and weight gain. ... Acute intermittent porphyria. Cholestatic liver ...

Multiplexed lateral flow microarray assay for detection of citrus pathogens Xylella fastidiosa and Xanthomonas axonopodis pv citri

Energy Technology Data Exchange (ETDEWEB)

Cary,; Bruce, R [Santa Fe, NM; Stubben, Christopher J [Los Alamos, NM

2011-03-22

The invention provides highly sensitive and specific assays for the major citrus pathogens Xylella fastidiosa and Xanthomonas axonopodis, including a field deployable multiplexed assay capable of rapidly assaying for both pathogens simultaneously. The assays are directed at particular gene targets derived from pathogenic strains that specifically cause the major citrus diseases of citrus variegated chlorosis (Xylella fastidiosa 9a5c) and citrus canker (Xanthomonas axonopodis pv citri). The citrus pathogen assays of the invention offer femtomole sensitivity, excellent linear dynamic range, and rapid and specific detection.

Photomedicine

International Nuclear Information System (INIS)

Ben-Hur, E.; Rosenthal, I.

1987-01-01

Volume I of this book contains: Basics of Photochemistry; Molecular and Cellular Photobiology; Acute Cutaneous Effects of Light; The Homology of UV-Mediated Cutaneous Carcinogenic and Aging Processes; Effects of Sunlight on the Eye; Photoimmunology; Photosensitivity to Drugs; and Porphyrias. Volume II contains: The Idiopathic Photodermatoses; Xeroderma Pigmentosum; Beta-Carotene Therapy for Erythropoietic Protoporphyria and Other Photosensitivity Diseases; Photochemotherapy of Psoriasis Using the Furocoumrains; Photochemotherapy of Various Skin Disorders; Photodynamic Therapy of Cancer; and Photoimmunotherapy. Volume III of this book contains: The Phthalocyanines: Sensitizers with Potential for Photodynamic Therapy of Cancer; Lasers in Surgery and Medicine; Lasers in Opthalmology; The Carbon Dioxide Laser in Orthopedic Surgery. Diagnostic Uses of Light; Sources and Measurements of Optical Radiation for Medical Applications; and Safety Measures in Optical Radiation Treatment

Porphyrins profile by high performance liquid chromatography ...

African Journals Online (AJOL)

E. Fateen

2008-09-07

Sep 7, 2008 ... acid dehydratase porphyria (ADP), acute intermittent por- phyria (AIP) ..... affecting motor neurons, and can lead to respiratory and bul- bar paralysis and ... variable degrees of fatty damage and chronic inflammatory changes [1]. ..... ppix influences the hematologic status and iron metabolism in patients with ...

Morphologic Features of Extrahepatic Manifestations of Hepatitis C Virus Infection

Directory of Open Access Journals (Sweden)

Huaibin M. Ko

2012-01-01

Full Text Available Cirrhosis and hepatocellular carcinoma are the prototypic complications of chronic hepatitis C virus infection in the liver. However, hepatitis C virus also affects a variety of other organs that may lead to significant morbidity and mortality. Extrahepatic manifestations of hepatitis C infection include a multitude of disease processes affecting the small vessels, skin, kidneys, salivary gland, eyes, thyroid, and immunologic system. The majority of these conditions are thought to be immune mediated. The most documented of these entities is mixed cryoglobulinemia. Morphologically, immune complex depositions can be identified in small vessels and glomerular capillary walls, leading to leukoclastic vasculitis in the skin and membranoproliferative glomerulonephritis in the kidney. Other HCV-associated entities include porphyria cutanea tarda, lichen planus, necrolytic acral erythema, membranous glomerulonephritis, diabetic nephropathy, B-cell non-Hodgkin lymphomas, insulin resistance, sialadenitis, sicca syndrome, and autoimmune thyroiditis. This paper highlights the histomorphologic features of these processes, which are typically characterized by chronic inflammation, immune complex deposition, and immunoproliferative disease in the affected organ.

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

Directory of Open Access Journals (Sweden)

Lane AM

2016-12-01

Full Text Available Ashley M Lane,1 Jerome T McKay,2 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology; 2Department of Microbiology and Immunology, Wake Forest University School of Medicine, Winston-Salem, NC, USAAbstract: Erythropoietic protoporphyria (EPP and the phenotypically similar disease X-linked protoporphyria (XLPP are inherited cutaneous porphyrias characterized clinically by acute non-blistering photosensitivity, intolerance to sunlight, and significantly reduced quality of life. They are due to marked overproduction of protoporphyrin (PP chiefly by erythroblasts and reticulocytes. In EPP, the underlying genetic defect is in the ferrochelatase gene, which encodes the final enzyme in the heme synthetic pathway. In XLPP, the genetic defect is a gain-of-function mutation, usually a four-base deletion, in the gene that encodes the enzyme 5-aminolevulinic acid synthase-2, the first and rate-controlling enzyme of heme synthesis in developing red blood cells. The excess PP causes acute and painful photosensitivity, being activated by light in the long ultraviolet to blue spectrum (380–420 nm, the Soret band. Although several treatments have been proposed, presently no very effective treatment exists for EPP or XLPP. Afamelanotide (Scenesse® is a first-in-class synthetic analog of α-melanocyte stimulating hormone. Afamelanotide mimics the naturally occurring hormone to increase skin pigmentation by increasing melanin production in melanocytes, resulting in increased sunlight tolerance in those with EPP/XLPP. Afamelanotide is currently approved for use in the European Union and Switzerland, and it is under review in the United States by the Food and Drug Administration for use in patients with EPP/XLPP. This paper provides a review of the clinical characteristics and current therapies for EPP/XLPP. We discuss the pharmacology, clinical efficacy, safety, and tolerability of afamelanotide and summarize the results of several

An Evaluation of the Genetic Diversity of Xylella fastidiosa Isolated from Diseased Citrus and Coffee in São Paulo, Brazil.

Science.gov (United States)

Qin, X; Miranda, V S; Machado, M A; Lemos, E G; Hartung, J S

2001-06-01

ABSTRACT Strains of Xylella fastidiosa, isolated from sweet orange trees (Citrus sinensis) and coffee trees (Coffea arabica) with symptoms of citrus variegated chlorosis and Requeima do Café, respectively, were indistinguishable based on repetitive extragenic palindromic polymerase chain reaction (PCR) and enterobacterial repetitive intergenic consensus PCR assays. These strains were also indistinguishable with a previously described PCR assay that distinguished the citrus strains from all other strains of Xylella fastidiosa. Because we were not able to document any genomic diversity in our collection of Xylella fastidiosa strains isolated from diseased citrus, the observed gradient of increasing disease severity from southern to northern regions of São Paulo State is unlikely due to the presence of significantly different strains of the pathogen in the different regions. When comparisons were made to reference strains of Xylella fastidiosa isolated from other hosts using these methods, four groups were consistently identified consistent with the hosts and regions from which the strains originated: citrus and coffee, grapevine and almond, mulberry, and elm, plum, and oak. Independent results from random amplified polymorphic DNA (RAPD) PCR assays were also consistent with these results; however, two of the primers tested in RAPD-PCR were able to distinguish the coffee and citrus strains. Sequence comparisons of a PCR product amplified from all strains of Xylella fastidiosa confirmed the presence of a CfoI polymorphism that can be used to distinguish the citrus strains from all others. The ability to distinguish Xylella fastidiosa strains from citrus and coffee with a PCR-based assay will be useful in epidemiological and etiological studies of this pathogen.

Nuclear microscopy in biomedical analysis with special emphasis on clinical metal biology

Science.gov (United States)

Lindh, Ulf; Frisk, Peter; Nyström, Joakim; Danersund, Antero; Hudecek, Romuald; Lindvall, Anders; Thunell, Stig

1997-07-01

Nuclear microscopy based upon developments in high energy ion beam techniques is by now an accepted technique in many fields of research. The advancements into the biomedical field have, however, been slower than expected. A major factor explaining this tendency is the availability of nuclear microscopy. This paper reviews briefly the biomedical work using nuclear microscopy that has been carried out since the 4 th International Conference on Nuclear Microprobe Technology and Applications held in Shanghai. Nuclear microscopy of isolated individual blood cells from patients adversely affected by metal exposure from dental amalgam has been performed both before and after removal of the metallic fillings. The elemental profile of blood cells was more or less normalised after treatment. Some of these results will be presented to illustrate a medical application. Results from bulk analysis by ICP-MS of erythrocytes and plasma before and after treatment will also be presented to illustrate the difference in information content between these two approaches as well as the need for complementary information in solving biomedical problems. As part of a larger study of acute porphyria, nuclear microscopy of blood cells was included among the 78 laboratory tests. The approach in this study was unbiased in the sense that no hypothesis was formulated as to which laboratory parameters would be the most explanatory for health or disease. Multivariate discriminant analysis was applied to the large amounts of data acquired. This approach led to the hypothesis that oxidative stress increased the synthesis of manganese-dependent superoxide dismutase in the mitochondria of polymorphonuclear leukocytes, explaining the increase of manganese in these cells. Antioxidant therapy was therefore applied to a couple of patients with porphyria, however, without clinical success.

Metabolic pancreatitis: Etiopathogenesis and management

Directory of Open Access Journals (Sweden)

Sunil Kumar Kota

2013-01-01

Full Text Available Acute pancreatitis is a medical emergency. Alcohol and gallstones are the most common etiologies accounting for 60%-75% cases. Other important causes include postendoscopic retrograde cholangiopancreatography procedure, abdominal trauma, drug toxicity, various infections, autoimmune, ischemia, and hereditary causes. In about 15% of cases the cause remains unknown (idiopathic pancreatitis. Metabolic conditions giving rise to pancreatitis are less common, accounting for 5%-10% cases. The causes include hypertriglyceridemia, hypercalcemia, diabetes mellitus, porphyria, and Wilson′s disease. The episodes of pancreatitis tend to be more severe. In cases of metabolic pancreatitis, over and above the standard routine management of pancreatitis, careful management of the underlying metabolic abnormalities is of paramount importance. If not treated properly, it leads to recurrent life-threatening bouts of acute pancreatitis. We hereby review the pathogenesis and management of various causes of metabolic pancreatitis.

Porphyria Cutanea Tarda and Agent Orange

Science.gov (United States)

... Accountability & Whistleblower Protection Transparency Media Room Inside the Media Room Public Affairs News Releases Speeches Videos Publications National Observances Veterans Day Memorial Day Celebrating America's Freedoms Special Events Adaptive Sports Program Creative Arts Festival ...

The neuropsychiatric ailment of Vincent Van Gogh

Directory of Open Access Journals (Sweden)

Kalyan B Bhattacharyya

2015-01-01

Full Text Available Vincent Van Gogh is one of the most celebrated creative artists of all time. All his life, he was afflicted by some kind of neurological or psychiatric disorder, which remains a mystery even today. Many historians and his personal physicians believe that he suffered from epilepsy while others felt that he was affected by Ménière′s disease. Features such as hypergraphia, atypical sexuality, and viscosity of thinking suggest the possibility of Gastaut-Geschwind phenomenon, a known complication of complex partial seizure. On the contrary, some historians feel that he was forced to sever his right ear in order to get relief from troublesome tinnitus, a complication of Ménière′s disease. He was addicted to the liquor absinthe, which is known to lead to xanthopsia, and many authorities argue that this was the reason for his penchant for the deep and bright yellow color in many of his paintings. Others have suggested the possibility of bipolar disorder, sunstroke, acute intermittent porphyria, and digitalis toxicity as well.

Tolerating Toxins: Grasshoppers that Feast on Pyrrolizidine Alkaloids §.

Science.gov (United States)

Housecroft, Catherine E

2018-03-30

The elegant grasshopper (Zonocerus elegans) and the variegated grasshopper (Z. variegatus) are among insects that deliberately consume and store pyrrolizidine alkaloids which are subsequently used in defence mechanisms.

Porphyrins

Science.gov (United States)

Gotelli, George R.; Wall, Jeffrey H.; Kabra, Pokar M.; Marton, Laurence J.

Historically the term porphyria has been used since it was coined in 1871 to describe a purple colored material extracted from pathological feces (1). The first case of porphyria was reported in 1874, (2, 3), but until the 1930 Nobel Prize winning work of Hans Fischer on the synthesis of protoporphyrin, there was little more than academic interest in porphyrin analysis. During the forty years between 1930 and 1970, the biosynthetic pathways leading to the formation of heme, and the details of porphyrin metabolism, were elucidated. During this time quantitative methods for porphyrins in biological fluids used complex and laborious solvent extraction techniques, requiring large sample volumes and hours to complete. We now know that these methods only partially separated the complex mixture of porphyrins found in biological fluids. These solvent extraction procedures fractionated the porphyrins into two broad groups, uroporphyrins (octacarboxylic) and coproporphyrins (tetracarboxylic). However, intermediate carboxylated porphyrin containing 2, 3, 5, 6, and 7 carboxyl groups are now known to exist in normal and pathlogical excreta, which were not differentiated, but which were included in the two broad uroporphyrin and copropophyrin groups.

Análise espaço-temporal da clorose variegada dos citros no Noroeste do Paraná, com uso de PCR para detecção de Xylella fastidiosa = Spatio-temporal analysis of the citrus variegated chlorosis (CVC in the Northwest of Paraná, using PCR for detection of Xylella fastidiosa

Directory of Open Access Journals (Sweden)

William Mário de Carvalho Nunes

2006-07-01

Full Text Available A citricultura é afetada por inúmeras doenças, como a clorose variegada do citros (CVC, causada pela bactéria Xylella fastidiosa. O objetivo deste trabalho foi determinar a distribuição espacial da doença dentro de pomares comerciais do Noroeste do Paraná com o uso de métodos moleculares. Foram selecionados pomares sintomáticos para CVC com as variedades ‘Pêra’, ‘Valência’ e ‘Folha Murcha’ (Citrus sinensis Osbeck. Foram marcadas para cada variedade, 4 plantas-referência positivas para CVC (por sintomas e análise molecular e 8 plantas ao redor de cada uma das plantas-referência foram amostradas, num total de 36 plantas por variedade. Realizou-se o teste da Reação da Polimerase em Cadeia (PCR para detecção da bactéria e na mesma época foram conduzidas avaliações visuais de sintomas de CVC. Os resultados da análise temporal, utilizando-se os modelos Monomolecular, Logístico e Gompertz, apontaram o modelo Logístico como o que melhor se ajustou para descrever o comportamento da doença no tempo, para todas as variedades estudadas. Observou-se que o comportamento espacial da doença diferiu quando a mesma área foiavaliada pelos métodos visual e molecular, resultando em uma diferença no padrão espacial das áreas avaliadas. Portanto, ambos os métodos empregados, sintomas e PCR, foram capazes de constatar asmudanças no padrão espacial apresentado, sendo que a análise molecular (PCR foi mais sensível para detectar as mudanças ocorridas.Countless diseases affect the citriculture, as the citrus variegated chlorosis (CVC which is caused by the bacteria Xylella fastidiosa.The aim of this work was to determine the space distribution of the disease inside commercial orchards in the Northwest of Paraná, using molecular methods. Symptomatic orchards were selected for CVC with the varieties 'Pêra', 'Valência' and 'Folha Murcha' (Citrus sinensis Osbeck. For each variety, 4 positive reference-plant for CVC

Medicinudløst hudkløe, sår og blærer hos tre patienter med pseudoporfyri

DEFF Research Database (Denmark)

Þorsteinsdóttir, Sunna; Velander, Marie Juul; Bygum, Anette

2015-01-01

Pseudoporphyria cutanea tarda is a well described bullous skin disorder which resembles porphyria cutanea tarda. However, the levels of porphyrins in plasma, urine and faeces are normal. We present three cases of patients with classical symptoms of pseudoporhyria. Two of the patients developed ps...... pseudoporphyria after the combination of intensive sunbathing and medications well known to cause pseudoporphyria. The third case received haemodialysis and furosemide....

Medicinudløst hudkløe, sår og blærer hos tre patienter med pseudoporfyri

DEFF Research Database (Denmark)

Thorsteinsdóttir, Sunna; Velander, Marie Juul; Bygum, Anette

2015-01-01

Pseudoporphyria cutanea tarda is a well described bullous skin disorder which resembles porphyria cutanea tarda. However, the levels of porphyrins in plasma, urine and faeces are normal. We present three cases of patients with classical symptoms of pseudoporphyria. Two of the patients developed p...... pseudoporphyria after the combination of intensive sunbathing and medications well known to cause pseudoporphyria. The third case received haemodialysis and furosemide....

7 CFR 331.3 - PPQ select agents and toxins.

Science.gov (United States)

2010-01-01

...) Select agents and toxins listed in paragraph (b) of this section that have been genetically modified. (d... variegated chlorosis strain). (c) Genetic elements, recombinant nucleic acids, and recombinant organisms: (1...

An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse

Czech Academy of Sciences Publication Activity Database

Daxinger, L.; Harten, S.K.; Oey, H.; Epp, Trevor; Isbel, L.; Huang, E.; Whitelaw, N.; Apedaile, A.; Sorolla, A.; Yong, J.; Bharti, V.; Sutton, J.; Ashe, A.; Pang, Z.Y.; Wallace, N.; Gerhardt, D.J.; Blewitt, M.E.; Jeddeloh, J.A.; Whitelaw, E.

2013-01-01

Roč. 14, č. 9 (2013) ISSN 1465-6906 Institutional support: RVO:68378050 Keywords : epigenetics * variegation * forward genetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 10.465, year: 2013

[Mercury in three species of Suillus mushroom from some sites in Poland].

Science.gov (United States)

Mielewska, Dominika; Stefańska, Aleksandra; Wenta, Justyna; Mazur, Michalina; Bielawski, Leszek; Danisiewicz, Dorota; Dryzałowska, Anna; Falandysz, Jerzy

2008-01-01

Total mercury content have been determined in fruiting bodies of Variegated Bolete (Suillus variegates), European Cow Bolete (S. bovinus) and Slippery Jack (S. luteus) and in underlying to mushroom's surface layer of soil substrate collected from several spatially distant one from another sites in Poland. All three Suillus mushroom species independent of the site characterized were by small mercury content. The arithmetic mean values of mercury concentration in caps and stipes, respectively, were: 0.17 +/- 0.07-0.22 +/- 0.12 and 0.047 +/- 0.015-0.071 +/- 0.035 microg/g dry weight for Variegated Bolete; 0.28 +/- 0.11-0.79 +/- 0.40 and 0.17 +/- 0.07- 0.51 +/- 0.22 microg/g dw for European Cow Bolete, and 0.095 +/- 0.082-0.17 +/- 0.05 and 0.045 +/- 0.026- 0.070 +/- 0.026 microg/g dw for Slippery Jack. All three species of Suillus mushrooms bio-concentrated mercury (BCF > 1). European Cow Bolete bioconcentrated mercury relatively more efficiently when compared to two other species, and means of BCF value of this element in its caps ranged from 18 +/- 10 to 45 +/- 20, and in stipes from 9.4 +/- 7.5 to 29 +/- 11. A level of surface soil pollution with mercury was low and averaged from 0.017 +/- 0.003 do 0.029 +/- 0.020 microg/g dw.

Fluxo de seiva e fotossíntese em laranjeira 'Natal' com clorose variegada dos citros Sap flow and photosynthesis of 'Natal' sweet orange plants with citrus variegated chlorosis

Directory of Open Access Journals (Sweden)

Eduardo Caruso Machado

2006-06-01

Full Text Available O objetivo deste trabalho foi avaliar os efeitos da clorose variegada dos citros (CVC, no fluxo de seiva, trocas gasosas e atividade fotoquímica em laranjeira 'Natal', com e sem CVC, em condição de campo. O curso diário do fluxo de seiva, potencial da água na folha, assimilação de CO2, transpiração, condutância estomática e eficiência quântica máxima e efetiva do fotossistema II foram avaliados. O delineamento experimental foi em blocos ao acaso com cinco repetições. O fluxo de seiva foi 1,9 vez superior nas plantas sadias em relação às doentes. Em plantas doentes ocorreu queda de 43, 28 e 33% na assimilação de CO2, condutância estomática e transpiração, respectivamente. As plantas com CVC apresentaram fotoinibição dinâmica. Uma vez que a eficiência quântica efetiva apresentou um padrão de resposta semelhante, durante o dia, em ambos os tratamentos, o efeito protetor da fotorrespiração no aparato fotoquímico em plantas com CVC é discutido. As quedas de assimilação de CO2, transpiração e de fluxo de seiva, nas plantas com CVC, foram decorrentes do menor valor da condutância estomática, possivelmente causado pela colonização dos vasos do xilema pela Xylella fastidiosa.The objective of this work was to evaluate the effects of citrus variegated chlorosis (CVC on sap flow, gas exchanges and photochemical activity in 'Natal' sweet orange plants with and without CVC under field condition. Diurnal courses of sap flow, leaf water potential, CO2 assimilation rate and transpiration, stomatal conductance, potential and effective quantum efficiency of photosystem II were evaluated. The experiment was arranged in a random block design with five repetitions. Healthy plants showed sap flow values around 1.9 times higher than injured ones. Injured plants exhibited reductions of 43, 28 and 33% in CO2 assimilation rate, stomatal conductance and leaf transpiration, respectively. CVC-affected plants showed dynamic

[Update on the biology of heme synthesis in erythroid cells].

Science.gov (United States)

Fujiwara, Tohru; Harigae, Hideo

2015-02-01

Heme is a prosthetic group of hemoproteins playing important roles in oxygen transport, detoxification, circadian rhythm, microRNA processing, regulation of transcription, and translation. The majority of heme (-85%) is synthesized in red blood cells mainly for hemoglobin production, whereas hepatocytes account for most of the rest, functioning primarily in the synthesis of cytochrome P450 enzymes and mitochondrial respiratory enzymes. Thus, failure of heme biosynthesis causes severe inherited or acquired disorders in humans, including porphyria and sideroblastic anemia. The heme biosynthetic pathway is composed of eight enzymes that work in either mitochondria or the cytoplasm, which have been extensively researched and frequently reviewed. On the other hand, the mechanisms governing transport and intracellular trafficking of heme intermediates, as well as their potential links to human diseases, are poorly understood. Herein, we focus on recent understanding of the heme biosynthetic pathway and on human disorders due to defective heme synthesis in erythroid cells, such as X-linked sideroblastic anemia and erythropoietic protoporphyria.

Clinical relevance of porphyrin determinations in porphyria

NARCIS (Netherlands)

Beukeveld, Gerhardus Johannes Jozef

1995-01-01

This thesis deals with hereditaryd iseasesin the synthesiso f heme. Heme presents a prosthetic group in a number of important proteins, like hemoglobin, cytochromes and the cytochrome P450 oxidases. In chapter 1 the heme synthesis and its regulation are described. Intermediary products in the

A MORPHOMETRIC STUDY OF THE VARIEGATED GRASSHOPPER

African Journals Online (AJOL)

BIG TIMMY

Department of Zoology, Obafemi Awolowo University, Ile-Ife, Nigeria. Correspondence a. Morphometry of the dry-season population of adult ... female specimens from Port-Harcourt were the most correctly classified compared to specimens from other locations . The present study demonstrated the morphological similarities ...

Mechanisms And Variegated Manifestations Of Inteference In ...

African Journals Online (AJOL)

Nigerian bilinguals' use of English as a second language is fraught with interference from L1 to L2, a phenomenon that is commonplace world-wide as a linguistic enterprise. But the extent of this trend in bilinguals varies from one language to another based on sociolinguistic and cultural variables. In Nigeria, manifestations ...

Human uroporphyrinogen III synthase: Molecular cloning, nucleotide sequence, and expression of a full-length cDNA

International Nuclear Information System (INIS)

Tsai, Shihfeng; Bishop, D.F.; Desnick, R.J.

1988-01-01

Uroporphyrinogen III synthase, the fourth enzyme in the heme biosynthetic pathway, is responsible for conversion of the linear tetrapyrrole, hydroxymethylbilane, to the cyclic tetrapyrrole, uroporphyrinogen III. The deficient activity of URO-synthase is the enzymatic defect in the autosomal recessive disorder congenital erythropoietic porphyria. To facilitate the isolation of a full-length cDNA for human URO-synthase, the human erythrocyte enzyme was purified to homogeneity and 81 nonoverlapping amino acids were determined by microsequencing the N terminus and four tryptic peptides. Two synthetic oligonucleotide mixtures were used to screen 1.2 x 10 6 recombinants from a human adult liver cDNA library. Eight clones were positive with both oligonucleotide mixtures. Of these, dideoxy sequencing of the 1.3 kilobase insert from clone pUROS-2 revealed 5' and 3' untranslated sequences of 196 and 284 base pairs, respectively, and an open reading frame of 798 base pairs encoding a protein of 265 amino acids with a predicted molecular mass of 28,607 Da. The isolation and expression of this full-length cDNA for human URO-synthase should facilitate studies of the structure, organization, and chromosomal localization of this heme biosynthetic gene as well as the characterization of the molecular lesions causing congenital erythropoietic porphyria

Review: Biological imprinting: Some genetic considerations | Saad ...

African Journals Online (AJOL)

... as for interpretation of possible mechanisms implicated in its occurrence. Keywords: Genetic imprinting; Mutations; Re-sense mutation; Epigenetic alterations; DNA methylation/demethylation; Parthenogenesis; Position-effect variegation; Post-fertilization genomic imprinting; microRNA; Chromatin modifications; Pyknons ...

Urinary porphyrin excretion in hepatitis C infection

OpenAIRE

Vogeser, Michael; Jacob, Karl; Zachoval, Reinhart

1999-01-01

A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism. Moreover, there is evidence of a role of porphyrinopathies in hepatocarcinogenesis. The aim of our study was to obtain data on the prevalence and patterns of heme metabolism alterations in patients with chronic hepatitis C virus infection. Urinary porphyrin excretion was prospectively studied in 100 consecutive ou...

Transcriptome analysis of the phytobacterium Xylella fastidiosa growing under xylem-based chemical conditions.

Science.gov (United States)

Ciraulo, Maristela Boaceff; Santos, Daiene Souza; Rodrigues, Ana Claudia de Freitas Oliveira; de Oliveira, Marcus Vinícius; Rodrigues, Tiago; de Oliveira, Regina Costa; Nunes, Luiz R

2010-01-01

Xylella fastidiosa is a xylem-limited bacterium responsible for important plant diseases, like citrus-variegated chlorosis (CVC) and grapevine Pierce's disease (PD). Interestingly, in vitro growth of X. fastidiosa in chemically defined media that resemble xylem fluid has been achieved, allowing studies of metabolic processes used by xylem-dwelling bacteria to thrive in such nutrient-poor conditions. Thus, we performed microarray hybridizations to compare transcriptomes of X. fastidiosa cells grown in 3G10-R, a medium that resembles grape sap, and in Periwinkle Wilt (PW), the complex medium traditionally used to cultivate X. fastidiosa. We identified 299 transcripts modulated in response to growth in these media. Some 3G10R-overexpressed genes have been shown to be upregulated in cells directly isolated from infected plants and may be involved in plant colonization, virulence and environmental competition. In contrast, cells cultivated in PW show a metabolic switch associated with increased aerobic respiration and enhanced bacterial growth rates.

Transcriptome Analysis of the Phytobacterium Xylella fastidiosa Growing under Xylem-Based Chemical Conditions

Directory of Open Access Journals (Sweden)

Maristela Boaceff Ciraulo

2010-01-01

Full Text Available Xylella fastidiosa is a xylem-limited bacterium responsible for important plant diseases, like citrus-variegated chlorosis (CVC and grapevine Pierce's disease (PD. Interestingly, in vitro growth of X. fastidiosa in chemically defined media that resemble xylem fluid has been achieved, allowing studies of metabolic processes used by xylem-dwelling bacteria to thrive in such nutrient-poor conditions. Thus, we performed microarray hybridizations to compare transcriptomes of X. fastidiosa cells grown in 3G10-R, a medium that resembles grape sap, and in Periwinkle Wilt (PW, the complex medium traditionally used to cultivate X. fastidiosa. We identified 299 transcripts modulated in response to growth in these media. Some 3G10R-overexpressed genes have been shown to be upregulated in cells directly isolated from infected plants and may be involved in plant colonization, virulence and environmental competition. In contrast, cells cultivated in PW show a metabolic switch associated with increased aerobic respiration and enhanced bacterial growth rates.

Nonlinear models for describing the Citrus Variegated Chlorosis in groves of two counties at northwestern Paraná state, Brazil = Modelo não-linear para a curva de progresso de incidência da Clorose Variegada dos Citros (CVC em dois municípios da região noroeste do Estado do Paraná

Directory of Open Access Journals (Sweden)

Clara Matiko Ueda

2010-10-01

Full Text Available In Brazil, the production of sweet oranges has been threatened by the Citrus Variegated Chlorosis (CVC incited by the gram-negative bacterium Xylella fastidiosa (Wells. Commercial citrus groves in two counties at the Northwestern Paraná state were evaluated to estimate the disease progression by using parameterizations of nonlinear models. Groves of Citrus sinensis Osbeck, variety “Pêra”, “Valência”, “Natal” and “Folha Murcha” had all the plants evaluated for the presence of disease symptoms. Thereafter, different parameterizations of the Logistic and Gompertz models were fitted to these data. The goodness of fit was evaluated by the intrinsic (IN and parameter-effects (PE curvatures of Bates and Watts, the bias of Box and the Hougaard measures of skewness. In Loanda, the best model was the Fermi-Dirac, and in Nova Esperança the data were best fitted to the parameterization L5, which is also a parameterization from the Logistic model.A citricultura é afetada por diversas doenças, dentre as quais a Clorose Variegada dos Citros (CVC causada pela bactéria Xylella fastidiosa (Wells. Para a região noroeste do Estado do Paraná, onde foi avaliada a CVC, propõe-se encontrar modelos não-lineares de curvas de progresso de incidência da CVC que representem o percentual de plantas acometidas pela doença. Para avaliar o comprometimento dos pomares com relação à doença, foram escolhidos pomares comerciais em dois municípios, onde foi determinada a proporção de plantas doentes. Foram selecionados talhões de laranja doce (Citrus sinensis Osbeck nas variedades “Pêra”, “Valência”, “Natal” e “Folha Murcha” e a avaliação de todas as plantas do talhão foi realizada visualmente em relação à presença ou à ausência de sintomas de CVC. Para estimar o modelo que melhor se ajustou aos dados de progresso da proporção da doença em cada talhão, foram considerados modelos não-lineares decrescimento sigmoidal

Diversity of endophytic bacterial populations and their interaction with Xylella fastidiosa in citrus plants

NARCIS (Netherlands)

Araujo, W.L.; Marcon, J.; jr. Maccheroni, W.; Elsas, van J.D.; Vuurde, van J.W.L.; Azevedo, de J.L.

2002-01-01

Citrus variegated chlorosis (CVC) is caused by Xylella fastidiosa, a phytopathogenic bacterium that can infect all Citrus sinensis cultivars. The endophytic bacterial communities of healthy, resistant, and CVC-affected citrus plants were studied by using cultivation as well as

Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.

Science.gov (United States)

Ferreli, Caterina; Gasparini, Giulia; Parodi, Aurora; Cozzani, Emanuele; Rongioletti, Franco; Atzori, Laura

2017-12-01

Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct

Hepatic arachidonic acid metabolism is disrupted after hexachlorobenzene treatment

International Nuclear Information System (INIS)

Billi de Catabbi, Silvia C.; Faletti, Alicia; Fuentes, Federico; San Martin de Viale, Leonor C.; Cochon, Adriana C.

2005-01-01

Hexaclorobenzene (HCB), one of the most persistent environmental pollutants, can cause a wide range of toxic effects including cancer in animals, and hepatotoxicity and porphyria both in humans and animals. In the present study, liver microsomal cytochrome P450 (CYP)-dependent arachidonic acid (AA) metabolism, hepatic PGE production, and cytosolic phospholipase A 2 (cPLA 2 ) activity were investigated in an experimental model of porphyria cutanea tarda induced by HCB. Female Wistar rats were treated with a single daily dose of HCB (100 mg kg -1 body weight) for 5 days and were sacrificed 3, 10, 17, and 52 days after the last dose. HCB treatment induced the accumulation of hepatic porhyrins from day 17 and increased the activities of liver ethoxyresorufin O-deethylase (EROD), methoxyresorufin O-demethylase (MROD), and aminopyrine N-demethylase (APND) from day 3 after the last dose. Liver microsomes from control and HCB-treated rats generated, in the presence of NADPH, hydroxyeicosatetraenoic acids (HETEs), epoxyeicosatrienoic acids (EETs), 11,12-Di HETE, and ω-OH/ω-1-OH AA. HCB treatment caused an increase in total NADPH CYP-dependent AA metabolism, with a higher response at 3 days after the last HCB dose than at the other time points studied. In addition, HCB treatment markedly enhanced PGE production and release in liver slices. This HCB effect was time dependent and reached its highest level after 10 days. At this time cPLA 2 activity was shown to be increased. Unexpectedly, HCB produced a significant decrease in cPLA 2 activity on the 17th and 52nd day. Our results demonstrated for the first time that HCB induces both the cyclooxygenase and CYP-dependent AA metabolism. The effects of HCB on AA metabolism were previous to the onset of a marked porphyria and might contribute to different aspects of HCB-induced liver toxicity such as alterations of membrane fluidity and membrane-bound protein function. Observations also suggested that a possible role of cPLA 2 in

Structure and Function of SET and MYND Domain-Containing Proteins

Directory of Open Access Journals (Sweden)

Nicholas Spellmon

2015-01-01

Full Text Available SET (Suppressor of variegation, Enhancer of Zeste, Trithorax and MYND (Myeloid-Nervy-DEAF1 domain-containing proteins (SMYD have been found to methylate a variety of histone and non-histone targets which contribute to their various roles in cell regulation including chromatin remodeling, transcription, signal transduction, and cell cycle control. During early development, SMYD proteins are believed to act as an epigenetic regulator for myogenesis and cardiomyocyte differentiation as they are abundantly expressed in cardiac and skeletal muscle. SMYD proteins are also of therapeutic interest due to the growing list of carcinomas and cardiovascular diseases linked to SMYD overexpression or dysfunction making them a putative target for drug intervention. This review will examine the biological relevance and gather all of the current structural data of SMYD proteins.

The Contribution of food plants to the growth, development and ...

African Journals Online (AJOL)

The Contribution of food plants to the growth, development and fecundity of Zonocerus variegatus (L) ... African Journal of Biotechnology ... The performance of the variegated grasshopper, Zonocerus variegatus (L) fed on different food plants namely cassava (Manihot esculenta), pawpaw (Carica papaya) and acalypha ...

The effects of chromosome rearrangements on the expression of heterochromatic genes in chromosome 2L of Drosophila melanogaster

International Nuclear Information System (INIS)

Wakimoto, B.T.; Hearn, M.G.

1990-01-01

The light (lt) gene of Drosophila melanogaster is located at the base of the left arm of chromosome 2, within or very near centromeric heterochromatin (2Lh). Chromosome rearrangements that move the lt + gene from its normal proximal position and place the gene in distal euchromatin result in mosaic or variegated expression of the gene. The cytogenetic and genetic properties of 17 lt-variegated rearrangements induced by X radiation are described in this report. The authors show that five of the heterochromatic genes adjacent to lt are subject to inactivation by these rearrangements and that the euchromatic loci in proximal 2L are not detectably affected. The properties of the rearrangements suggest that proximity to heterochromatin is an important regulatory requirement for at least six 2Lh genes. They discuss how the properties of the position effects on heterochromatic genes relate to other proximity-dependent phenomena such as transvection

Bringing the Offshore Ashore : Transnational Production, Industrial Relations and the Reconfiguration of Sovereignty

NARCIS (Netherlands)

Lillie, Nathan

This article argues that off-shore is losing its exceptionality by being absorbed into a broader process of variegation and deterritorialization of sovereignty, and that capital's search for a new "fix" is driving this process. Capital goes off-shore by exploiting non-territorial definitions of

7 CFR 29.1080 - Variegated dark red (KD).

Science.gov (United States)

2010-01-01

... Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE COMMODITY STANDARDS AND STANDARD CONTAINER... which usually results from excessive sunbaking during the growing process or from storing cured tobacco...

[Postoperative cognitive deficits].

Science.gov (United States)

Kalezić, Nevena; Dimitrijević, Ivan; Leposavić, Ljubica; Kocica, Mladen; Bumbasirević, Vesna; Vucetić, Cedomir; Paunović, Ivan; Slavković, Nemanja; Filimonović, Jelena

2006-01-01

Cognitive dysfunctions are relatively common in postoperative and critically ill patients. This complication not only compromises recovery after surgery, but, if persistent, it minimizes and compromises surgery itself. Risk factors of postoperative cognitive disorders can be divided into age and comorbidity dependent, and those related to anesthesia and surgery. Cardiovascular, orthopedic and urologic surgery carries high risk of postoperative cognitive dysfunction. It can also occur in other types of surgical treatment, especially in elderly. Among risk factors of cognitive disorders, associated with comorbidity, underlying psychiatric and neurological disorders, substance abuse and conditions with elevation of intracranial pressure are in the first place in postoperative patients. Preoperative and perioperative predisposing conditions for cognitive dysfunction and their incidence were described in our paper. These are: geriatric patients, patients with substance abuse, preexisting psychiatric or cognitive disorders, neurologic disease with high intracranial pressure, cerebrovascular insufficiency, epilepsia, preeclampsia, acute intermittent porphyria, operation type, brain hypoxia, changes in blood glucose level, electrolyte imbalance, anesthetic agents, adjuvant medication and intraoperative awareness. For each of these factors, evaluation, prevention and treatment strategies were suggested, with special regard on anesthetic technique.

Mobile Screens: The Visual Regime of Navigation

NARCIS (Netherlands)

Verhoeff, N.

2012-01-01

In this book on screen media, space, and mobility I compare synchronically, as well as diachronically, diverse and variegated screen media - their technologies and practices – as sites for virtual mobility and navigation. Mobility as a central trope can be found on the multiple levels that are

7 CFR 29.3532 - Mixed (M).

Science.gov (United States)

2010-01-01

... 7 Agriculture 2 2010-01-01 2010-01-01 false Mixed (M). 29.3532 Section 29.3532 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... Type 95) § 29.3532 Mixed (M). Variegated or distinctly different colors of the type mingled together...

7 CFR 29.2481 - Key to standard grademarks.

Science.gov (United States)

2010-01-01

... Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE COMMODITY STANDARDS AND STANDARD CONTAINER.... 3—Good. 4—Fair. 5—Low. Colors L—Light brown. F—Medium brown. D—Dark brown. M—Mixed or variegated. G...

7 CFR 29.2696 - Key to standard grademarks.

Science.gov (United States)

2010-01-01

... Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE COMMODITY STANDARDS AND STANDARD CONTAINER.... 3—Good. 4—Fair. 5—Low. Colors L—Light brown. F—Medium brown. D—Dark brown. M—Mixed or variegates. VF...

Author Details

African Journals Online (AJOL)

Development of a trap to contaminate variegated grasshoppers (Zonocerus variegatus L.) (Orthoptera: Pyrgomorphidae) with Metarrhyzium flavo-viride Gams & Rozsypal in the field. Details · Vol 40, No 1 (2007) - Articles Yam pests in the Ashanti and Brong Ahafo regions of Ghana: A study of farmers\\' indigenous technical ...

Insect pests' incidence and variations due to forest landscape ...

African Journals Online (AJOL)

No differences were found between the intensification zones, except for weeds, which appeared to be a greater constraint in the slightly degraded area. Within the insect pest, the greatest damage to crops according to farmers originated from borers and scales, followed by variegated grasshopper. Only the termites showed ...

The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors

DEFF Research Database (Denmark)

Hudlebusch, Heidi Rye; Santoni-Rugiu, Eric; Simon, Ronald

2011-01-01

Multiple myeloma SET (Suppressor of variegation, Enhancer of zeste, and Trithorax) domain (MMSET) is a histone lysine methyltransferase deregulated in a subgroup of multiple myelomas with the t(4;14)(p16;q32) translocation and poor prognosis. With the aim of understanding, if MMSET can be involved...

Lupus community panel proposals for optimising clinical trials: 2018

Science.gov (United States)

Merrill, Joan T; Manzi, Susan; Aranow, Cynthia; Askenase, Anca; Bruce, Ian; Chakravarty, Eliza; Chong, Ben; Costenbader, Karen; Dall’Era, Maria; Ginzler, Ellen; Hanrahan, Leslie; Kalunian, Ken; Merola, Joseph; Raymond, Sandra; Rovin, Brad; Saxena, Amit; Werth, Victoria P

2018-01-01

Formidable impediments stand in the way of treatment development for lupus. These include the unwieldy size of current trials, international competition for scarce patients, complex outcome measures and a poor understanding of these outcomes in the world at large. The heterogeneity of the disease itself coupled to superimposition of variegated background polypharmacy has created enough immunological noise to virtually ensure the failure of lupus treatment trials, leaving an understandable suspicion that at least some of the results in testing failed drugs over the years may not have been negative, but merely uninterpretable. The authors have consulted with many clinical trial investigators, biopharmaceutical developers and stakeholders from government and voluntary sectors. This paper examines the available evidence that supports workable trial designs and proposes approaches to improve the odds of completing interpretable treatment development programs for lupus. PMID:29657738

Author Details

African Journals Online (AJOL)

A Study on the Feeding and Growth Patterns of the Variegated Grasshopper Zonocerus Variegatus (L) in the Laboratory Abstract PDF · Vol 5, No 1 (2011) - Articles Comparative Studies on the Larvicidal Action of Novaluron (Mosquiron® 100EC) and Moringa Oliefera (LAM) Seed Oil against Aedes Aegypti (Diptera: ...

The endogenous transposable element Tgm9 is suitable for functional analyses of soybean genes and generating novel mutants for genetic improvement of soybean

Science.gov (United States)

In soybean, variegated flowers can be caused by somatic excision of the CACTA-type transposable element Tgm9 from intron 2 of the DFR2 gene encoding dihydroflavonol-4-reductase in the anthocyanin pigment biosynthetic pathway. DFR2 has been mapped to the W4 locus where the allele containing the elem...

Author Details

African Journals Online (AJOL)

Ezeakacha, FN. Vol 5, No 1 (2011) - Articles A Study on the Feeding and Growth Patterns of the Variegated Grasshopper Zonocerus Variegatus (L) in the Laboratory Abstract PDF. ISSN: 2070-0083. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL ...

Global Journal of Pure and Applied Sciences - Vol 8, No 4 (2002)

African Journals Online (AJOL)

The microbial flora of the different gut regions of the variegated grasshopper Zonocerus variegatus (L) (Orthoptera :Pyrgomorphidae) · EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. A.B. Idowu, M. O. Edema, 447-454. http://dx.doi.org/10.4314/gjpas.v8i4.15992 ...

Ethnic Diversity and Political Attitudes in a Nigerian University

Science.gov (United States)

Brier, Alan; Tansey, Stephen

1974-01-01

A survey of attitudes of the student population at Nigeria's University of Ife, at the outset of the civil war in 1967, revealed the development of a common set of political attitudes among the students which are variegated but in which variations are not related to tribal origins in any fundamental aspects. (EH)

Constituting Market Citizenship: Regulatory State, Market Making and Higher Education

Science.gov (United States)

Jayasuriya, Kanishka

2015-01-01

The paper makes three claims: first that regulatory state making and market making in higher education is intertwined through a project of market citizenship that shapes the "publicness" of higher education. Second, we argue that these projects of market citizenship are variegated and in Australia has taken the form of accommodation--via…

Physiological roles of plastid terminal oxidase in plant stress

Indian Academy of Sciences (India)

The absence of PTOX in plants usually results in photo-bleached variegated leaves and impaired adaptation to environment alteration. Although PTOX level and activity has been found to increase under a wide range of stress conditions, the functions of plant PTOX in stress responses are still disputed now. In this paper ...

Diet in dermatology: Revisited

Directory of Open Access Journals (Sweden)

Kaimal Sowmya

2010-01-01

Full Text Available Diet has an important role to play in many skin disorders, and dermatologists are frequently faced with the difficulty of separating myth from fact when it comes to dietary advice for their patients. Patients in India are often anxious about what foods to consume, and what to avoid, in the hope that, no matter how impractical or difficult this may be, following this dictum will cure their disease. There are certain disorders where one or more components in food are central to the pathogenesis, e.g. dermatitis herpetiformis, wherein dietary restrictions constitute the cornerstone of treatment. A brief list, although not comprehensive, of other disorders where diet may have a role to play includes atopic dermatitis, acne vulgaris, psoriasis vulgaris, pemphigus, urticaria, pruritus, allergic contact dermatitis, fish odor syndrome, toxic oil syndrome, fixed drug eruption, genetic and metabolic disorders (phenylketonuria, tyrosinemia, homocystinuria, galactosemia, Refsum′s disease, G6PD deficiency, xanthomas, gout and porphyria, nutritional deficiency disorders (kwashiorkar, marasmus, phrynoderma, pellagra, scurvy, acrodermatitis enteropathica, carotenemia and lycopenemia and miscellaneous disorders such as vitiligo, aphthous ulcers, cutaneous vasculitis and telogen effluvium. From a practical point of view, it will be useful for the dermatologist to keep some dietary information handy to deal with the occasional patient who does not seem to respond in spite of the best, scientific and evidence-based therapy.

13 Tribute Diala_Brink WEB 03.pmd

African Journals Online (AJOL)

Owner

aloneness, defeat, and death, the discriminations of race are revealed to be hollow as all humans, in their full variegated complexions, men and women, are shown to be ... image in political terms as the Fanonian wretched of the earth, it is often conflated with the image of Sisyphus, irrepressibly rebellious in his servitude; ...

Ford's Fund for the Republic: A 1950s-Era Foundation as Educator

Science.gov (United States)

Walton, Andrea

2015-01-01

Historians have recently opened up a reconsideration of the 1950s. Long characterized as a time of stolid conformity and Cold War conservatism, the era is increasingly seen in more variegated terms. Studies exploring a range of institutions, causes, and activities have illuminated ways the intellectual and social soil of postwar America gave root…

MRI prognostic value in multiple myeloma

International Nuclear Information System (INIS)

Medina, G.; Mazzuco, J.; Corrado, C.; Hendler, M.

2001-01-01

Purpose: To evaluate the prognosis value of the bone marrow (BM) MR infiltration patterns in patients with MM, without treatment, and to assess the results altogether with other prognosis factors (clinical, laboratory, radiology). Materials and methods: MR was performed in 21 patients with MM. Bone lesions, plasmacytomas and osteoporosis were assessed with skeletal radiographs. Results: MR of patients with MM revealed 3 abnormal BM involvement patterns: focal (FP), diffuse (DP) and variegated (VP). Unlike others reported series, we identified MR studies with 2 or more MR patterns in 13 patients. We define this particular type as mixed pattern (MP). Conclusion: MR is more sensitive than conventional radiology in detecting bone lesions. The MR patterns combined with the other conventional staging factors provide a useful tool for disease prognosis. In our series, patients with DP, alone or combined with other patterns (mixed), were related with the worst prognosis. (author)

Crystallization and preliminary X-ray analysis of stationary phase survival protein E (SurE) from Xylella fastidiosa in two crystal forms

International Nuclear Information System (INIS)

Reis, Marcelo Augusto dos; Saraiva, Antonio Marcos; Santos, Marcelo Leite dos; Souza, Anete Pereira de; Aparicio, Ricardo

2012-01-01

The crystallization and preliminary analysis of two crystal forms of survival protein E from X. fastidiosa are reported. The bacterium Xylella fastidiosa is a phytopathogenic organism that causes citrus variegated chlorosis, a disease which attacks economically important crops, mainly oranges. In this communication, the crystallization and preliminary X-ray crystallographic analysis of XfSurE, a survival protein E from X. fastidiosa, are reported. Data were collected for two crystal forms, I and II, to 1.93 and 2.9 Å resolution, respectively. Crystal form I belonged to space group C2, with unit-cell parameters a = 172.36, b = 84.18, c = 87.24 Å, α = γ = 90, β = 96.59°, whereas crystal form II belonged to space group C2, with unit-cell parameters a = 88.05, b = 81.26, c = 72.84 Å, α = γ = 90, β = 94.76°

A versatile optical profilometer based on conoscopic holography sensors for acquisition of specular and diffusive surfaces in artworks

Science.gov (United States)

Gaburro, Nicola; Marchioro, Giacomo; Daffara, Claudia

2017-07-01

Surface metrology of artworks requires the design of suitable devices for in-situ non-destructive measurement together with reliable procedures for an effective analysis of such non-engineered variegate objects. To advance the state-of-the-art it has been implemented a versatile optical micro-profilometry taking advantage of the adapt- ability of conoscopic holography sensors, able to operate with irregular shapes and composite materials (diffusive, specular, and polychrome) of artworks. The scanning technique is used to obtain wide field and high spatially resolved areal profilometry. The prototype has a modular scheme based on a set of conoscopic sensors, extending the typical design based on a scanning stage and a single probe with a limited bandwidth, thus allowing the collection of heights data from surface with different scales and materials with variegate optical response. The system was optimized by characterizing the quality of the measurement with the probes triggered in continuous scanning modality. The results obtained on examples of cultural heritage objects (2D paintings, 3D height-relief) and materials (pictorial, metallic) demonstrate the versatility of the implemented device.

The molecular basis of South African genetic porphyria established ...

African Journals Online (AJOL)

ship China and were to be the brides of young men, in her case Gerrit Jansz, within weeks of their arrival. ... enabled Japanese workers to exploit the properties it shared with the eukaryotic enzyme to isolate the human ... the last voyage of the Zuytdorp, a great ship of the Dutch. East India Company, which disappeared in ...

7 CFR 29.1081 - Variegated red or scorched (KR).

Science.gov (United States)

2010-01-01

....1081 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE COMMODITY STANDARDS AND STANDARD CONTAINER... usually results from excessive heat in the curing process. Any leaf of which 20 percent or more of its...

Variegated colors of pediatric glioblastoma multiforme: what to expect?

Directory of Open Access Journals (Sweden)

Vivek Immanuel

2017-08-01

Full Text Available Malignant gliomas account for 35-45% of primary brain tumors; among these glioblastoma multiforme (GBM is the most common adult brain tumor constituting approximately 85%. Its incidence is quite less in the pediatric population and treatment of these patients is particularly challenging. Exposure to ionizing radiation is the only environmental factor found to have any significant association with GBM. Several genetic alterations associated with GBM in adults have been well documented such as epidermal growth factor receptor amplification, overexpression of mouse double minute 2 homolog also known as E3 ubiquitin-protein ligase, Phosphatase and tensin homolog gene mutation, loss of heterozygosity of chromosome 10p and isocitrate dehydrogenase-1 mutation. However, data on genetic mutations in pediatric GBM is still lacking. Exophytic brain stem gliomas are rare tumors and are usually associated with a poor prognosis. The most effective treatment in achieving long-term survival in such patients, is surgical excision of the tumor and then chemoradiotherapy followed by adjuvant chemotherapy by temozolomide. This schedule is the standard treatment for GBM patients. In view of the rarity of pediatric GBM, we report here a case of pontine GBM in a 5-year-old girl.

Comparative analysis of differentially expressed sequence tags of sweet orange and mandarin infected with Xylella fastidiosa

Directory of Open Access Journals (Sweden)

Alessandra A. de Souza

2007-01-01

Full Text Available The Citrus ESTs Sequencing Project (CitEST conducted at Centro APTA Citros Sylvio Moreira/IAC has identified and catalogued ESTs representing a set of citrus genes expressed under relevant stress responses, including diseases such as citrus variegated chlorosis (CVC, caused by Xylella fastidiosa. All sweet orange (Citrus sinensis L. Osb. varieties are susceptible to X. fastidiosa. On the other hand, mandarins (C. reticulata Blanco are considered tolerant or resistant to the disease, although the bacterium can be sporadically detected within the trees, but no disease symptoms or economic losses are observed. To study their genetic responses to the presence of X. fastidiosa, we have compared EST libraries of leaf tissue of sweet orange Pêra IAC (highly susceptible cultivar to X. fastidiosa and mandarin ‘Ponkan’ (tolerant artificially infected with the bacterium. Using an in silico differential display, 172 genes were found to be significantly differentially expressed in such conditions. Sweet orange presented an increase in expression of photosynthesis related genes that could reveal a strategy to counterbalance a possible lower photosynthetic activity resulting from early effects of the bacterial colonization in affected plants. On the other hand, mandarin showed an active multi-component defense response against the bacterium similar to the non-host resistance pattern.

Characteristics of Watermelon Mosaic Virus Transmission Occurring in Korean Ginseng

Directory of Open Access Journals (Sweden)

Seung-Kook Choi

2014-09-01

Full Text Available Korean ginseng (Panax ginseng is the most popular herb for medical purpose in Korea. Recently, viral diseases from Korean ginseng showing various degrees of severe mottling, variegation and mosaic symptoms have caused quantity losses of Korean ginseng in a large number of farms. Watermelon mosaic virus (named WMVgin was identified as a causal agent for the disease of Korean ginseng. Interestingly, WMV-gin failed to infect both Korean ginseng plant and susceptible host species including cucurbitaceous plants by mechanical inoculation. However, WMV-gin could successfully infect Korean ginseng by transmission of two aphid species (Myzus persicae and Aphis gossypii. It is likely that transmission of WMV-gin was done by both the aphid species during feeding behavior of the two aphid species on Korean ginseng, though the aphids dislike feeding in Korea ginseng. Similarly, a strain of WMV (WMV-wm isolated from watermelon was transmitted successfully to Korean ginseng plant by the two aphid species, but not by mechanical inoculations. Transmission assays using M. persicae and A. gossypii clearly showed both WMV-gin and WMV-wm were not transmitted from infected Korean ginseng plant to cucurbit species that are good host species for WMV. These results suggest WMV disease occurring in Korean ginseng plant can be controlled by ecological approaches.

7 CFR 29.2509 - Color symbols.

Science.gov (United States)

2010-01-01

... 7 Agriculture 2 2010-01-01 2010-01-01 false Color symbols. 29.2509 Section 29.2509 Agriculture...-Cured Tobacco (u.s. Types 22, 23, and Foreign Type 96) § 29.2509 Color symbols. As applied to these types, color symbols are L—light brown, F—medium brown, D—dark brown, M—mixed or variegated VF—greenish...

Flowering Trees

Indian Academy of Sciences (India)

stems and handsome foliage. Leaves are 8–10 cm long, dull green, the two thin leathery halves of the lamina fusing or the cleft between them extending beyond the middle. Flowers are gorgeous, axillary with dark purple stamens. The pod is more or less flat. B. alba is often named as B. variegate var. alba by botanists.

Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.

Science.gov (United States)

Collantes, María; Serrano-Mendioroz, Irantzu; Benito, Marina; Molinet-Dronda, Francisco; Delgado, Mercedes; Vinaixa, María; Sampedro, Ana; Enríquez de Salamanca, Rafael; Prieto, Elena; Pozo, Miguel A; Peñuelas, Iván; Corrales, Fernando J; Barajas, Miguel; Fontanellas, Antonio

2016-04-01

Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks when hepatic heme synthesis is activated by endogenous or environmental factors including fasting. While the molecular mechanisms underlying the nutritional regulation of hepatic heme synthesis have been described, glucose homeostasis during fasting is poorly understood in porphyria. Our study aimed to analyse glucose homeostasis and hepatic carbohydrate metabolism during fasting in PBGD-deficient mice. To determine the contribution of hepatic PBGD deficiency to carbohydrate metabolism, AIP mice injected with a PBGD-liver gene delivery vector were included. After a 14 h fasting period, serum and liver metabolomics analyses showed that wild-type mice stimulated hepatic glycogen degradation to maintain glucose homeostasis while AIP livers activated gluconeogenesis and ketogenesis due to their inability to use stored glycogen. The serum of fasted AIP mice showed increased concentrations of insulin and reduced glucagon levels. Specific over-expression of the PBGD protein in the liver tended to normalize circulating insulin and glucagon levels, stimulated hepatic glycogen catabolism and blocked ketone body production. Reduced glucose uptake was observed in the primary somatosensorial brain cortex of fasted AIP mice, which could be reversed by PBGD-liver gene delivery. In conclusion, AIP mice showed a different response to fasting as measured by altered carbohydrate metabolism in the liver and modified glucose consumption in the brain cortex. Glucose homeostasis in fasted AIP mice was efficiently normalized after restoration of PBGD gene expression in the liver. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Studying disorders of vertebrate iron and heme metabolism using zebrafish.

Science.gov (United States)

van der Vorm, Lisa N; Paw, Barry H

2017-01-01

Iron is a crucial component of heme- and iron-sulfur clusters, involved in vital cellular functions such as oxygen transport, DNA synthesis, and respiration. Both excess and insufficient levels of iron and heme-precursors cause human disease, such as iron-deficiency anemia, hemochromatosis, and porphyrias. Hence, their levels must be tightly regulated, requiring a complex network of transporters and feedback mechanisms. The use of zebrafish to study these pathways and the underlying genetics offers many advantages, among others their optical transparency, ex-vivo development and high genetic and physiological conservations. This chapter first reviews well-established methods, such as large-scale mutagenesis screens that have led to the initial identification of a series of iron and heme transporters and the generation of a variety of mutant lines. Other widely used techniques are based on injection of RNA, including complementary morpholino knockdown and gene overexpression. In addition, we highlight several recently developed approaches, most notably endonuclease-based gene knockouts such as TALENs or the CRISPR/Cas9 system that have been used to study how loss of function can induce human disease phenocopies in zebrafish. Rescue by chemical complementation with iron-based compounds or small molecules can subsequently be used to confirm causality of the genetic defect for the observed phenotype. All together, zebrafish have proven to be - and will continue to serve as an ideal model to advance our understanding of the pathogenesis of human iron and heme-related diseases and to develop novel therapies to treat these conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

A Conceptual Framework to Explain the Role of Social Environment and Multicultural Personality on Intercultural Communication Competency, Inter Role Congruence and Interaction Comfort

OpenAIRE

Omar, Rosmini; Ihtiyar, Ali; Ahmad, Fauziah Sh.

2015-01-01

The multicultural markets require marketers to gain strong interculturalcommunication competency (ICC). Several earlier studies have emphasized thesignificance of ICC in marketing. However, empirical investigations of the subjectare scarce and inconclusive. The exceptional characteristic of Malaysia with itsexceedingly variegated multicultural and combined ethnic mix makes it one of theproper examples for ICC research and analysis to explain its antecedents andconsequence in retailing industr...

Surfing the web and parkinson's law.

Science.gov (United States)

Baldwin, F D

1996-05-01

The World Wide Web accounts for much of the popular interest in the Internet and offers a rich and variegated source of medical information. It's where you'll find online attractions ranging from "The Visible Human" to collections of lawyer jokes, as well as guides to clinical materials. Here's a basic introduction to the Web, its features, and its vocabulary.

62 case report hepatitis c virus-associated porphyria cutanea tarda

African Journals Online (AJOL)

boaz

Porhyria cutanea tarda (PCT) is a rare, inherited or acquired disorder due to decreased activity or deficiency of uroporphyrinogen decarboxylase (UROD), one of the enzymes in the haem synthetic pathway. It is characterized by cutaneous manifestations such as erosions, blisters and bulae in the dorsum of the hand, ...

Beyond bureaucracy and entrepreneurialism:examining the multiple discursive codes informing the work, careers and subjectivities of management graduates

OpenAIRE

Loacker, Bernadette Isabel; Sliwa, Martyna

2016-01-01

This paper examines how discursive codes and demands associated with ‘bureaucratic and entrepreneurial regimes’ of work and career organization shape the work, careers and subjectivities of management graduates. The study is based on an analysis of 30 narratives of management professionals who graduated from an Austrian business school in the early 1970s or 2000s. Its insights suggest that variegated discursive codes manifest in the graduates’ articulated professional practices and subjectivi...

Analytical Approach to Fictional Elements of Sandbadnameh

Directory of Open Access Journals (Sweden)

a عارفی

2014-05-01

Using stock and allegorical characters, fixed tone and style in dialogue tales, lack of variegated plot and logical and stable relationship between events make this work far from contemporary criteria of fiction writing in spite of its great volume, and introduce it as a symbolic and allegorical tale. On the other hand, bombastic and embellished prose as well as being loyal to ancient fiction writing have added to literary significance of this literary work.

Selected Jesus sayings on materialism according to the Sermon on the Mount (Matt. 5-7) in judging the so-called prosperity theology

OpenAIRE

2008-01-01

Prosperity theology is a variegated movement that overlaps both the Charismatic and non-Charismatic spectrums. This theology certainly has a Charismatic flavouring, but it is by no means limited to Pentecostalism. The prosperity message is being preached world-wide on TBN Television, radio and printed media. This gospel focuses on human potential for successful living, emphasizing health and wealth. There is a clear shift notable from theocentric providence to anthropocentric prosperity in th...

Toward an African-Christian Demonology: The Demonologies of African Traditional Religion, African Christianity, and Early Christianity in Dialogue

OpenAIRE

Moscicke, Hans

2017-01-01

Christian interactions with the spirit-world of African traditional religion (ATR) have remained problematic due, in part, to the failure of Christian missionaries to understand in detail the cosmology of ATR and the angelologies and demonologies of early Christianity. In this article I suggest a way beyond this impasse. I first survey the shape of cosmology and demonology in ATR, and then examine African Christianitys variegated responses to these traditional beliefs. Finally, I submit that ...

Ketogenic Diet: An Early Option for Epilepsy Treatment, Instead of A Last Choice Only

Directory of Open Access Journals (Sweden)

Huei-Shyong Wang

2012-02-01

Full Text Available Ketogenic diet (KD was usually tried as a last resort in the treatment of intractable epilepsy after failure of many antiepileptics and even epilepsy surgery. Glucose transporter-1 deficiency and pyruvate dehydrogenase deficiency must be treated with KD as the first choice because of inborn errors of glucose metabolism. Infantile spasms, tuberous sclerosis complex, Rett syndrome, Doose syndrome, Dravet syndrome, etc., appear to respond to KD, and it has been suggested by the international consensus statement to use KD early. We believe that all patients with epilepsy, except those with contraindicated situations such as pyruvate carboxylase deficiency, porphyria, β-oxidation defects, primary carnitine deficiency, etc., may try KD before trying other regimens.

VapD in Xylella fastidiosa Is a Thermostable Protein with Ribonuclease Activity.

Science.gov (United States)

Mendes, Juliano S; Santiago, André da S; Toledo, Marcelo A S; Rosselli-Murai, Luciana K; Favaro, Marianna T P; Santos, Clelton A; Horta, Maria Augusta C; Crucello, Aline; Beloti, Lilian L; Romero, Fabian; Tasic, Ljubica; de Souza, Alessandra A; de Souza, Anete P

2015-01-01

Xylella fastidiosa strain 9a5c is a gram-negative phytopathogen that is the causal agent of citrus variegated chlorosis (CVC), a disease that is responsible for economic losses in Brazilian agriculture. The most well-known mechanism of pathogenicity for this bacterial pathogen is xylem vessel occlusion, which results from bacterial movement and the formation of biofilms. The molecular mechanisms underlying the virulence caused by biofilm formation are unknown. Here, we provide evidence showing that virulence-associated protein D in X. fastidiosa (Xf-VapD) is a thermostable protein with ribonuclease activity. Moreover, protein expression analyses in two X. fastidiosa strains, including virulent (Xf9a5c) and nonpathogenic (XfJ1a12) strains, showed that Xf-VapD was expressed during all phases of development in both strains and that increased expression was observed in Xf9a5c during biofilm growth. This study is an important step toward characterizing and improving our understanding of the biological significance of Xf-VapD and its potential functions in the CVC pathosystem.

Chemical characterization of Citrus sinensis grafted on C. limonia and the effect of some isolated compounds on the growth of Xylella fastidiosa.

Science.gov (United States)

Ribeiro, Alan Bezerra; Abdelnur, Patrícia Verardi; Garcia, Cleverson Fernando; Belini, Adriana; Severino, Vanessa G Pasqualotto; da Silva, M Fátima das G F; Fernandes, João B; Vieira, Paulo C; de Carvalho, Sérgio A; de Souza, Alessandra A; Machado, Marcos A

2008-09-10

Citrus sinensis grafted on C. limonia produces a considerable number of compounds that are not common in both plants developed from germination of seeds. The chemical profile of scion and rootstock differ notably for absence in the form of flavonoids and coumarins containing C5 prenyl groups attached to the carbon atoms of aromatic and heterocyclic systems or to oxygen. Only linear pyranocoumarins xanthyletin and xanthoxyletin were found in scion. This observation indicates that the prenylated compounds once biosynthesized in the roots could have been translocated to other organs. Xylella fastidiosa colonizes the xylem of plants causing diseases on several economically important crops such as citrus variegated chlorosis (CVC). A number of flavonoids, coumarins, alkaloids, dihydrocinnamic acid derivative, anacardic acid, triterpenes, and limonoids were tested for in vitro activity on the growth of Xylella fastidiosa. Azadirachtin A was the most active. Hesperidin, which occurs in great amounts in cells of the mesophyll of the affected leaves with CVC, showed a moderate activity suggesting that it can act as a good barrier for small-size colonies from X. fastidiosa.

VapD in Xylella fastidiosa Is a Thermostable Protein with Ribonuclease Activity.

Directory of Open Access Journals (Sweden)

Juliano S Mendes

Full Text Available Xylella fastidiosa strain 9a5c is a gram-negative phytopathogen that is the causal agent of citrus variegated chlorosis (CVC, a disease that is responsible for economic losses in Brazilian agriculture. The most well-known mechanism of pathogenicity for this bacterial pathogen is xylem vessel occlusion, which results from bacterial movement and the formation of biofilms. The molecular mechanisms underlying the virulence caused by biofilm formation are unknown. Here, we provide evidence showing that virulence-associated protein D in X. fastidiosa (Xf-VapD is a thermostable protein with ribonuclease activity. Moreover, protein expression analyses in two X. fastidiosa strains, including virulent (Xf9a5c and nonpathogenic (XfJ1a12 strains, showed that Xf-VapD was expressed during all phases of development in both strains and that increased expression was observed in Xf9a5c during biofilm growth. This study is an important step toward characterizing and improving our understanding of the biological significance of Xf-VapD and its potential functions in the CVC pathosystem.

Chemotherapy in the management of brain metastases: the emerging role of fotemustine for patients with melanoma and NSCLC.

Science.gov (United States)

Addeo, Raffaele; Zappavigna, Silvia; Luce, Amalia; Facchini, Sergio; Caraglia, Michele

2013-09-01

An estimated 20 - 40% of cancer patients will develop brain metastases that are the most common intracranial tumors in adults. Patients with cerebral metastases represent a variegate group where selection of the most appropriate treatment depends on many patient- and disease-related factors. The impact of therapeutic option on overall survival is lacking and it is important to consider quality of life (QOL) when treating patients with brain metastases. A considerable proportion of patients are treated with palliative approaches such as whole-brain radiotherapy. The role of chemotherapy was limited in the past. Recently, several chemotherapeutic agents have been identified as potentially useful. This article examines the pharmacokinetics, efficacy and safety and tolerability of fotemustine (FTM) for the management of patients with cerebral metastasis from melanoma and non-small cell lung cancer (NSCLC). FTM is a third-generation nitrosourea that has proved its efficacy on brain metastases of melanoma and showed promising results for the treatment of brain metastasis of NSCLC because of its ability to pass the blood-brain barrier.

Comparative genomic analysis of coffee-infecting Xylella fastidiosa strains isolated from Brazil.

Science.gov (United States)

Barbosa, Deibs; Alencar, Valquíria Campos; Santos, Daiene Souza; de Freitas Oliveira, Ana Cláudia; de Souza, Alessandra A; Coletta-Filho, Helvecio D; de Oliveira, Regina Souza; Nunes, Luiz R

2015-05-01

Strains of Xylella fastidiosa constitute a complex group of bacteria that develop within the xylem of many plant hosts, causing diseases of significant economic importance, such as Pierce's disease in North American grapevines and citrus variegated chlorosis in Brazil. X. fastidiosa has also been obtained from other host plants, in direct correlation with the development of diseases, as in the case of coffee leaf scorch (CLS)--a disease with potential to cause severe economic losses to the Brazilian coffee industry. This paper describes a thorough genomic characterization of coffee-infecting X. fastidiosa strains, initially performed through a microarray-based approach, which demonstrated that CLS strains could be subdivided in two phylogenetically distinct subgroups. Whole-genomic sequencing of two of these bacteria (one from each subgroup) allowed identification of ORFs and horizontally transferred elements (HTEs) that were specific to CLS-related X. fastidiosa strains. Such analyses confirmed the size and importance of HTEs as major mediators of chromosomal evolution amongst these bacteria, and allowed identification of differences in gene content, after comparisons were made with previously sequenced X. fastidiosa strains, isolated from alternative hosts. Although direct experimentation still needs to be performed to elucidate the biological consequences associated with such differences, it was interesting to verify that CLS-related bacteria display variations in genes that produce toxins, as well as surface-related factors (such as fimbrial adhesins and LPS) that have been shown to be involved with recognition of specific host factors in different pathogenic bacteria. © 2015 The Authors.

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

Science.gov (United States)

Petersen, Donald H.; And Others

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

Listener: a probe into information based material specification

DEFF Research Database (Denmark)

Ramsgaard Thomsen, Mette; Karmon, Ayelet

2011-01-01

This paper presents the thinking and making of the architectural research probe Listener. Developed as an interdisciplinary collaboration between textile design and architecture, Listener explores how information based fabrication technologies are challenging the material practices of architecture....... The paper investigates how textile design can be understood as a model for architectural production providing new strategies for material specification and allowing the thinking of material as inherently variegated and performative. The paper traces the two fold information based strategies present...

ACADIA 2010 konference: listener

DEFF Research Database (Denmark)

Ramsgaard Thomsen, Mette; Karmon, Ayelet

2010-01-01

This paper presents the thinking and making of the architectural research probe Listener. Developed as an interdisciplinary collaboration between textile design and architecture, Listener explores how information based fabrication technologies are challenging the material practices of architecture....... The paper investigates how textile design can be understood as a model for architectural production providing new strategies for material specification and allowing the thinking of material as inherently variegated and performative. The paper traces the two fold information based strategies present...

Margie Orford’s Hybrid Narratives: Crime Fiction Subgenres and the Theme of Misogyny in Daddy’s Girl and Like Clockwork

OpenAIRE

Horne, Karina Sofi

2015-01-01

This thesis sets out to identity the different types of subgenres that constitute Margie Orford’s crime fiction novels Like Clockwork and Daddy’s Girl, and to explore their connections to the extensive and variegated descriptions of misogyny that pervades both novels. The research consists of two parts: The first part provides a general description of the different subgenres that Orford’s works make use of: Classical detective fiction, hardboiled detective fiction, the police procedural/novel...

Distribution of the Sunda Colugo (Galeopterus variegatus) in Malaysia (Peninsular, Sabah, Sarawak)

OpenAIRE

Nasir, Muhammad Dzulhelmi Muhammad; Abdullah, Mohd Tajuddin

2010-01-01

There is not much information available on the distribution of the Sunda colugo (Galeopterus variegates) in Malaysia, despite it being one of only two known species in the order Dermoptera. Data on the presence of the Sunda colugo and the vernacular names used by various ethnic groups throughout Malaysia were collected and compiled from various primary and secondary sources. There were 27 locations from Peninsular, 11 locations from Sabah and 34 locations from Sarawak that reported the presen...

Echocardiographic study of left atrial myxoma

Directory of Open Access Journals (Sweden)

Dalal J

1979-01-01

Full Text Available Four cases of left atrial myxoma were diagnosed pre-operatively by echocardiography. All cases showed characteristic echocardio-graphic features of variegated shadows behind the mitral valve in diastole and within the left atrium in systole. In two cases the my-xomas were surgically removed and confirmed on histology. In one case the post-operative echocardiogram showed complete dis-appearance of the abnormal shadows. Echocardiography is the most reliable method today for the diagnosis of a myxoma.

Renal disease in patients with celiac disease.

Science.gov (United States)

Boonpheng, Boonphiphop; Cheungpasitporn, Wisit; Wijarnpreecha, Karn

2018-04-01

Celiac disease, an inflammatory disease of small bowel caused by sensitivity to dietary gluten and related protein, affects approximately 0.5-1% of the population in the Western world. Extra-intestinal symptoms and associated diseases are increasingly recognized including diabetes mellitus type 1, thyroid disease, dermatitis herpetiformis and ataxia. There have also been a number of reports of various types of renal involvement in patients with celiac disease including diabetes nephropathy, IgA nephropathy, membranous nephropathy, membranoproliferative glomerulonephritis, nephrotic syndrome related to malabsorption, oxalate nephropathy, and associations of celiac disease with chronic kidney disease and end-stage kidney disease. This review aims to present the current literature on possible pathologic mechanisms underlying renal disease in patients with celiac disease.

Physiological differences and changes in global DNA methylation levels in Agave angustifolia Haw. albino variant somaclones during the micropropagation process.

Science.gov (United States)

Duarte-Aké, Fátima; Castillo-Castro, Eduardo; Pool, Felipe Barredo; Espadas, Francisco; Santamaría, Jorge M; Robert, Manuel L; De-la-Peña, Clelia

2016-12-01

Global DNA methylation changes caused by in vitro conditions are associated with the subculturing and phenotypic variation in Agave angustifolia Haw. While the relationship between the development of albinism and in vitro culture is well documented, the role of epigenetic processes in this development leaves some important questions unanswered. During the micropropagation of Agave angustifolia Haw., we found three different phenotypes, green (G), variegated (V) and albino (A). To understand the physiological and epigenetic differences among the somaclones, we analyzed several morphophysiological parameters and changes in the DNA methylation patterns in the three phenotypes during their in vitro development. We found that under in vitro conditions, the V plantlets maintained their CAM photosynthetic capacity, while the A variant showed no pigments and lost its CAM photosynthetic ability. Epigenetic analysis revealed that global DNA methylation increased in the G phenotype during the first two subcultures. However, after that time, DNA methylation levels declined. This hypomethylation correlated with the appearance of V shoots in the G plantlets. A similar correlation occurred in the V phenotype, where an increase of 2 % in the global DNA methylation levels was correlated with the generation of A shoots in the V plantlets. This suggests that an "epigenetic stress memory" during in vitro conditions causes a chromatin shift that favors the generation of variegated and albino shoots.

Mutations in the Arabidopsis AtMRS2-11/AtMGT10/VAR5 Gene Cause Leaf Reticulation

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Shuang Liang

2017-11-01

Full Text Available In higher plants, the development of functional chloroplasts is essential for photosynthesis and many other physiological processes. With a long-term goal of elucidating the genetic regulation of chloroplast development, we identified two allelic leaf variegation mutants, variegated5-1 (var5-1 and var5-2. Both mutants showed a distinct leaf reticulation phenotype of yellow paraveinal regions and green interveinal regions, and the leaf reticulation phenotype correlated with photosynthetic defects. Through the identification of mutation sites in the two mutant alleles and the molecular complementation, we confirmed that VAR5 encodes a CorA family of Mg2+ transporters also known as AtMRS2-11/AtMGT10. Using protoplast transient expression and biochemical fractionation assays, we demonstrated that AtMRS2-11/AtMGT10/VAR5 likely localizes to the chloroplast envelope. Moreover, we established that AtMRS2-11/AtMGT10/VAR5 forms large molecular weight complexes in the chloroplast and the sizes of these complexes clearly exceed those of their bacterial counterparts, suggesting the compositions of CorA Mg2+ transporter complex is different between the chloroplast and bacteria. Our findings indicate that AtMRS2-11/AtMGT10/VAR5 plays an important role in the tissue specific regulation of chloroplast development.

[Periodontal disease in pediatric rheumatic diseases].

Science.gov (United States)

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

2014-01-01

Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

Induction of mutant resistant to alternaria blotch of apple by gamma-ray irradiation

International Nuclear Information System (INIS)

Yoshioka, Toji; Ito, Yuji; Masuda, Tetsuo

2000-01-01

Apple cultivars resistant to Alternaria blotch disease have been produced by cross-breeding, but it is difficult to produce resistance by crossing without changing the properties of cultivar because the gene composition of the cultivar tree is almost heterozygous. This study aimed to investigate the resistant mutation in Alternaria blotch susceptible and semiresistant cultivars. The resistance to Alternaria blotch pathogen or AM toxin is classified into the following three groups: 1) highly sensitive group including Indo, Redgold and Starking delicious, 2) semi-resistant group including Fuji, Orin and Golden delicious and 3) resistant group including Gala and Tsugaru. After gamma ray exposure of 80 Gy (at 5 Gy/hour), AM-toxin insensitive clones were selected in the VM 6 generation. These selected mutants could be rooted and habituated under field conditions. The degree of disease resistance was assessed by AM toxin treatment and Alternaria blotch fungi spore inoculation test. The leaves of these mutants were changed to variegated at high temperature, suggesting that some mutation related to chloroplast might have occurred. Alternaria blotch resistant strains could be produced by exposing to γray and selecting with AM toxin in shoot-tip culture system, but the functional effects of the AM toxin in Alternaria blotch and also the mechanism in the mutant lines were still unclear. (M.N.)

The diversity of citrus endophytic bacteria and their interactions with Xylella fastidiosa and host plants

Science.gov (United States)

Azevedo, João Lúcio; Araújo, Welington Luiz; Lacava, Paulo Teixeira

2016-01-01

Abstract The bacterium Xylella fastidiosa is the causal agent of citrus variegated chlorosis (CVC) and has been associated with important losses in commercial orchards of all sweet orange [Citrus sinensis (L.)] cultivars. The development of this disease depends on the environmental conditions, including the endophytic microbial community associated with the host plant. Previous studies have shown that X. fastidiosa interacts with the endophytic community in xylem vessels as well as in the insect vector, resulting in a lower bacterial population and reduced CVC symptoms. The citrus endophytic bacterium Methylobacterium mesophilicum can trigger X. fastidiosa response in vitro, which results in reduced growth and induction of genes associated with energy production, stress, transport, and motility, indicating that X. fastidiosa has an adaptive response to M. mesophilicum. Although this response may result in reduced CVC symptoms, the colonization rate of the endophytic bacteria should be considered in studies that intend to use this endophyte to suppress CVC disease. Symbiotic control is a new strategy that uses symbiotic endophytes as biological control agents to antagonize or displace pathogens. Candidate endophytes for symbiotic control of CVC must occupy the xylem of host plants and attach to the precibarium of sharpshooter insects to access the pathogen. In the present review, we focus on interactions between endophytic bacteria from sweet orange plants and X. fastidiosa, especially those that may be candidates for control of CVC. PMID:27727362

Functional and Evolutionary Characterization of a UDP-Xylose Synthase Gene from the Plant Pathogen Xylella fastidiosa, Involved in the Synthesis of Bacterial Lipopolysaccharide.

Science.gov (United States)

Alencar, Valquíria Campos; Jabes, Daniela Leite; Menegidio, Fabiano Bezerra; Sassaki, Guilherme Lanzi; de Souza, Lucas Rodrigo; Puzer, Luciano; Meneghetti, Maria Cecília Zorél; Lima, Marcelo Andrade; Tersariol, Ivarne Luis Dos Santos; de Oliveira, Regina Costa; Nunes, Luiz R

2017-02-07

Xylella fastidiosa is a plant-infecting bacillus, responsible for many important crop diseases, such as Pierce's disease of vineyards, citrus variegated chlorosis, and coffee leaf scorch (CLS), among others. Recent genomic comparisons involving two CLS-related strains, belonging to X. fastidiosa subsp. pauca, revealed that one of them carries a frameshift mutation that inactivates a gene encoding an oxidoreductase of the short-chain dehydrogenase/reductase (SDR) superfamily, which may play important roles in determining structural variations in bacterial glycans and glycoconjugates. However, the exact nature of this SDR has been a matter of controversy, as different annotations of X. fastidiosa genomes have implicated it in distinct reactions. To confirm the nature of this mutated SDR, a comparative analysis was initially performed, suggesting that it belongs to a subgroup of SDR decarboxylases, representing a UDP-xylose synthase (Uxs). Functional assays, using a recombinant derivative of this enzyme, confirmed its nature as XfUxs, and carbohydrate composition analyses, performed with lipopolysaccharide (LPS) molecules obtained from different strains, indicate that inactivation of the X. fastidiosa uxs gene affects the LPS structure among CLS-related X. fastidiosa strains. Finally, a comparative sequence analysis suggests that this mutation is likely to result in a morphological and evolutionary hallmark that differentiates two subgroups of CLS-related strains, which may influence interactions between these bacteria and their plant and/or insect hosts.

Identification of Xylella fastidiosa antivirulence genes: hemagglutinin adhesins contribute a biofilm maturation to X. fastidios and colonization and attenuate virulence.

Science.gov (United States)

Guilhabert, Magalie R; Kirkpatrick, Bruce C

2005-08-01

Xylella fastidosa, a gram-negative, xylem-limited bacterium, is the causal agent of several economically important plant diseases, including Pierce's disease (PD) and citrus variegated chlorosis (CVC). Until recently, the inability to transform or produce transposon mutants of X. fastidosa had been a major impediment to identifying X. fastidosa genes that mediate pathogen and plant interactions. A random transposon (Tn5) library of X. fastidosa was constructed and screened for mutants showing more severe symptoms and earlier grapevine death (hypervirulence) than did vines infected with the wild type. Seven hypervirulent mutants identified in this screen moved faster and reached higher populations than the wild type in grapevines. These results suggest that X. fastidosa attenuates its virulence in planta and that movement is important in X. fastidosa virulence. The mutated genes were sequenced and none had been described previously as antivirulence genes, although six of them showed similarity with genes of known functions in other organisms. One transposon insertion inactivated a hemagglutinin adhesin gene (PD2118), which we named HxfA. Another mutant in a second putative X. fastidosa hemagglutinin gene, PD1792 (HxfB), was constructed, and further characterization of these hxf mutants suggests that X. fastidosa hemagglutinins mediate contact between X. fastidosa cells, which results in colony formation and biofilm maturation within the xylem vessels.

The DCL gene of tomato is required for chloroplast development and palisade cell morphogenesis in leaves.

OpenAIRE

Keddie, J S; Carroll, B; Jones, J D; Gruissem, W

1996-01-01

The defective chloroplasts and leaves-mutable (dcl-m) mutation of tomato was identified in a Ds mutagenesis screen. This unstable mutation affects both chloroplast development and palisade cell morphogenesis in leaves. Mutant plants are clonally variegated as a result of somatic excision of Ds and have albino leaves with green sectors. Leaf midribs and stems are light green with sectors of dark green tissue but fruit and petals are wild-type in appearance. Within dark green sectors of dcl-m l...

A STUDY ON PAEDIATRIC DERMATOSES IN CHILDREN ATTENDING OPD OF GVR HOSPITAL, KURNOOL

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M. Bhuvaneswari

2018-02-01

Full Text Available BACKGROUND Paediatric dermatoses include various diseases of neonates such as sebaceous hyperplasia, milia, sucking blisters etc., cutaneous infections such as impetigo, folliculitis, furuncles etc., arthropod bites and infestations such as scabies, pediculosis, nutritional dermatoses such as acrodermatitis enteropathica, essential fatty acid deficiency, kwashiorkor etc., eczematous disorders such as atopic dermatitis, seborrhoeic dermatitis, etc., vesiculobullous disorders such as erythema multiforme, SJS/TEN, hypersensitivity disorders like urticaria, papular urticaria, angioedema etc., photosensitivity diseases like acute sunburn reactions, phototoxic reactions, porphyrias etc., epidermal diseases like psoriasis, lichen planus etc., keratinisation disorders like ichthyosis vulgaris, palmoplantar keratosis, etc., The epidemiological aspects of various childhood dermatoses have been the subject of study by various researchers for over a century, but the accurate incidence or prevalence could not be made out because: lack of properly designed guidelines for evaluation, inadequate and improper compilation, lack of parental awareness and knowledge about the problems, home remedies, treatment by quacks not being reported. MATERIALS AND METHODS It is a hospital based observational study, which was conducted at Govt. general hospital, Kurnool and GVR Hospital, Kurnool. The study included 14,730 children who attended the above departments, of them, 5775 children were males and 5995 children are females. The study was conducted during the period of 1 year from March 2015-June 2016. RESULTS Infections are the commonest (30.44% followed by Infestations (14.40%. Secondary Infections were the commonest bacterial infections (25.37%. Among the infestations Scabies was the most prevalent (77.76% CONCLUSION In our study, it was observed that 28-30% of the children aged below 12 years attending paediatric outpatient department, GVR Hospital and 30-40% of the

Screen-detected gallstone disease and cardiovascular disease

DEFF Research Database (Denmark)

Shabanzadeh, Daniel Mønsted; Skaaby, Tea; Sørensen, Lars Tue

2017-01-01

Knowledge about temporal associations for screen-detected gallstone disease and cardiovascular disease is limited. The objective of this study was to determine if screen-detected gallstones or cholecystectomy was associated with development of cardiovascular disease. A cohort study of three...... of cardiovascular disease through nationwide registers until December 2014. Multivariable Cox regression analyses were performed including traditional cardiovascular disease risk factors and apolipoprotein E genotype. Gallstone disease was identified in 10% (591/5928) of participants at baseline of whom 6.8% had...... gallstones and 3.2% had cholecystectomy. The study population was followed for a period of 32 years with only 1% lost to follow-up. Gallstone disease was associated with all cardiovascular disease (hazard ratio (HR) 1.36, 95% confidence interval (CI) [1.17;1.59]) and to the subgroups coronary artery (HR 1...

The endophyte Curtobacterium flaccumfaciens reduces symptoms caused by Xylella fastidiosa in Catharanthus roseus.

Science.gov (United States)

Lacava, Paulo Teixeira; Li, Wenbin; Araújo, Welington Luiz; Azevedo, João Lúcio; Hartung, John Stephen

2007-10-01

Citrus variegated chlorosis (CVC) is a disease of the sweet orange [Citrus sinensis (L.)], which is caused by Xylella fastidiosa subsp. pauca, a phytopathogenic bacterium that has been shown to infect all sweet orange cultivars. Sweet orange trees have been occasionally observed to be infected by Xylella fastidiosa without evidencing severe disease symptoms, whereas other trees in the same grove may exhibit severe disease symptoms. The principal endophytic bacterial species isolated from such CVC-asymptomatic citrus plants is Curtobacterium flaccumfaciens. The Madagascar periwinkle [Citrus sinensis (L.)] is a model plant which has been used to study X. fastidiosa in greenhouse environments. In order to characterize the interactions of X. fastidiosa and C. flaccumfaciens, periwinkle plants were inoculated separately with C. flaccumfaciens, X. fastidiosa, and both bacteria together. The number of flowers produced by the plants, the heights of the plants, and the exhibited disease symptoms were evaluated. PCR-primers for C. flaccumfaciens were designed in order to verify the presence of this endophytic bacterium in plant tissue, and to complement an existing assay for X. fastidiosa. These primers were capable of detecting C. flaccumfaciens in the periwinkle in the presence of X. fastidiosa. X. fastidiosa induced stunting and reduced the number of flowers produced by the periwinkle. When C. flaccumfaciens was inoculated together with X. fastidiosa, no stunting was observed. The number of flowers produced by our doubly- inoculated plants was an intermediate between the number produced by the plants inoculated with either of the bacteria separately. Our data indicate that C. flaccumfaciens interacted with X. fastidiosa in C. roseus, and reduced the severity of the disease symptoms induced by X. fastidiosa. Periwinkle is considered to be an excellent experimental system by which the interaction of C. flaccumfaciens and other endophytic bacteria with X. fastidiosa can be

Lysosomal storage disease 2 - Pompe's disease

NARCIS (Netherlands)

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

2008-01-01

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

Characterization of novel virulent broad-host-range phages of Xylella fastidiosa and Xanthomonas.

Science.gov (United States)

Ahern, Stephen J; Das, Mayukh; Bhowmick, Tushar Suvra; Young, Ry; Gonzalez, Carlos F

2014-01-01

The xylem-limited bacterium Xylella fastidiosa is the causal agent of several plant diseases, most notably Pierce's disease of grape and citrus variegated chlorosis. We report the isolation and characterization of the first virulent phages for X. fastidiosa, siphophages Sano and Salvo and podophages Prado and Paz, with a host range that includes Xanthomonas spp. Phages propagated on homologous hosts had observed adsorption rate constants of ~4 × 10(-12) ml cell(-1) min(-1) for X. fastidiosa strain Temecula 1 and ~5 × 10(-10) to 7 × 10(-10) ml cell(-1) min(-1) for Xanthomonas strain EC-12. Sano and Salvo exhibit >80% nucleotide identity to each other in aligned regions and are syntenic to phage BcepNazgul. We propose that phage BcepNazgul is the founding member of a novel phage type, to which Sano and Salvo belong. The lysis genes of the Nazgul-like phage type include a gene that encodes an outer membrane lipoprotein endolysin and also spanin gene families that provide insight into the evolution of the lysis pathway for phages of Gram-negative hosts. Prado and Paz, although exhibiting no significant DNA homology to each other, are new members of the phiKMV-like phage type, based on the position of the single-subunit RNA polymerase gene. The four phages are type IV pilus dependent for infection of both X. fastidiosa and Xanthomonas. The phages may be useful as agents for an effective and environmentally responsible strategy for the control of diseases caused by X. fastidiosa.

Farber's Disease

Science.gov (United States)

... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ...

Association between periodontal diseases and systemic diseases

Directory of Open Access Journals (Sweden)

Patrícia Weidlich

2008-08-01

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

Link Between Celiac Disease and Inflammatory Bowel Disease.

Science.gov (United States)

Shah, Ayesha; Walker, Marjorie; Burger, Daniel; Martin, Neal; von Wulffen, Moritz; Koloski, Natasha; Jones, Mike; Talley, Nicholas J; Holtmann, Gerald J

2018-05-14

The aim of this analysis was to assess in patients with inflammatory bowel disease (IBD) the risk of celiac disease and in celiac disease patients the risk of IBD. Previous studies report a possible association between IBD and celiac disease; however, this link is controversial. Using the search terms "inflammatory bowel disease" and "celiac disease," we identified initially 1525 publications. In total 27 studies met inclusion criteria. Proportions and 95% confidence intervals (CIs) for the prevalence of IBD in celiac disease and vice versa were compared with published prevalence rates for the respective geographic regions. We included 41,482 adult IBD patients (20,357 with Crohn's disease; 19,791 with ulcerative colitis; and 459 patients with celiac disease). Overall, in IBD patients the prevalence of celiac disease was 1110/100,000 (95% CI, 1010-1210/100,000) as compared with a prevalence of 620/100,000 (95% CI, 610-630/100,000) in the respective populations (odds ratio, 2.23; 95% CI, 1.99-2.50). In contrast, in patients with celiac disease, 2130/100,000 had IBD (95% CI, 1590-2670/100,000) as compared with 260/100,000 (95% CI, 250/100,000-270/100,000) in the respective populations (odds ratio, 11.10; 95% CI, 8.55-14.40). This effect was not different for ulcerative colitis and Crohn's disease. Although there was no evidence for publication bias for celiac disease in IBD, the funnel plot suggested that the association between IBD in celiac disease might be influenced by publication bias. The data are consistent with the notion that celiac disease is a risk factor for IBD and to lesser degree patients with IBD have an increased risk of celiac disease.

[Autoimmune thyroid disease and other non-endocrine autoimmune diseases].

Science.gov (United States)

Dilas, Ljiljana Todorović; Icin, Tijana; Paro, Jovanka Novaković; Bajkin, Ivana

2011-01-01

Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. AUTOIMMNUNE THYROID DISEASE AND OTHER ORGAN SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. AUTOIMMUNE THYROID DISEASE AND OTHER ORGAN NON-SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Otherwise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

Cytological study of radiation induced alterations in cytoplasmic factors controlling male sterility in corn. Progress report, February 28, 1975--December 1, 1975

International Nuclear Information System (INIS)

Edwardson, J.R.

1975-01-01

Progress is reported on the following research projects: cytoplasmic constituents of the embryo of various gymnosperms and angiosperms; cytoplasmic male sterility in corn; modification of cytoplasmic sterility factors using gamma radiation, EMS, and ethidium bromide; selection for sterile, blight-resistant corn plants; electron microscopy study of abnormal mitochondria in cytoplasm of corn; cytoplasmic male sterility in Petunia; non-Mendelian variegation in Petunia and Nicotiana; graft transmission of cytoplasmic male sterility; cytoplasmic male sterility in Vicia faba; and studies on Blakeslee's I virus in Datura

Huntington's disease: a perplexing neurological disease ...

African Journals Online (AJOL)

Huntington's disease is an inherited intricate brain illness. It is a neurodegenerative, insidious disorder; the onset of the disease is very late to diagnose. It is caused by an expanded CAG repeat in the Huntingtin gene, which encodes an abnormally long polyglutamine repeat in the Huntingtin protein. Huntington's disease ...

Endocrine Diseases

Science.gov (United States)

... Syndrome (PCOS) Pregnancy and Thyroid Disease Primary Hyperparathyroidism Prolactinoma Thyroid Tests Turner Syndrome Contact Us The National ... Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la ...

Lipaemic donations: truth and consequences.

Science.gov (United States)

Lippi, Giuseppe; Franchini, Massimo

2013-10-01

The problem of using material of unsuitable quality, including "nontransparent turbid milky plasma" or more simply "turbid plasma", for producing blood components is not trivial for several epidemiological, technical, analytical, clinical and economical reasons. With some exception, most national and international guidelines mandate that blood components should preferably not be produced from lipaemic donations. The origin of lipaemic blood is variegated, and includes physiological or paraphysiological causes and metabolic disorders, whereas a broad range of common diseases and drugs can also be associated with hypertriglyceridaemia. Overall, the frequency of lipaemic donations ranges between 0.31% and 0.35%, although sporadic reports have highlighted that the frequency might be much higher, up to 13%. Lipaemic donations pose two leading problems in transfusion medicine, that are interference during laboratory testing, and safety of producing blood components from hypertriglyceridaemic materials. While the former issue can be overcome by using chemical or mechanical methods, the clinical use of lipaemic blood for producing components remains an unresolved question. Transfusion medicine should thereby embark on a landmark effort to find a universal agreement of behaviours and harmonization of policies worldwide. Copyright © 2012 Elsevier Ltd. All rights reserved.

Clinical analysis of cases with nasopharyngeal carcinoma

International Nuclear Information System (INIS)

Sato, Katsuro; Tomita, Masahiko; Takahashi, Sugata; Matsuyama, Hiroshi

2010-01-01

Forty-one cases with nasopharyngeal carcinoma (NPC) treated in our department between 1991 and 2007 were clinically analyzed. The mean age of the cases was 53 years old, and the male-to female ratio was 3.6:1. The most common chief complaint was ear symptoms followed by neck, eye, and nose symptoms. The most common histology was squamous cell carcinoma, followed by undifferentiated carcinoma, adenocarcinoma, and spindle cell carcinoma. More than half of the cases were classified as clinical stage IV. For squamous cell carcinoma, undifferentiated carcinoma, spindle cell carcinoma cases, concurrent chemoradiotherapy followed by adjuvant chemotherapy was applied. For adenocarcinoma cases, transpalatal resection and postoperative radiotherapy was applied. The five-year overall survival rate was 64.1% and the disease-specific five-year survival rate was 71.2%. No significant statistical differences were seen between early stage (I, II) and late stage (III, IV), between I, II, III stage and IV stage. Recurrence occurred in 24.4% of the cases, and distant metastasis was more dominant than local recurrence. For the diagnosis and treatment of NPC, proper detection of NPC from variegated symptoms, and chemoradiotherapy for squamous cell carcinoma cases were considered to be important. (author)

Clinical practice guidelines for the diagnosis and management of melanoma: melanomas that lack classical clinical features.

Science.gov (United States)

Mar, Victoria J; Chamberlain, Alex J; Kelly, John W; Murray, William K; Thompson, John F

2017-10-16

A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas. Main recommendations: Because thick, life-threatening melanomas may lack the more classical ABCD (asymmetry, border irregularity, colour variegation, diameter > 6 mm) features of melanoma, a thorough history of the lesion with regard to change in morphology and growth over time is essential. Any lesion that is changing in morphology or growing over a period of more than one month should be excised or referred for prompt expert opinion. Changes in management as a result of the guidelines: These guidelines provide greater emphasis on improved recognition of the atypical presentations of melanoma, in particular nodular, desmoplastic and acral lentiginous subtypes, with particular awareness of hypomelanotic and amelanotic lesions.

Ribbing disease

International Nuclear Information System (INIS)

Mukkada, Philson J; Franklin, Teenu; Rajeswaran, Rangasami; Joseph, Santhosh

2010-01-01

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

Liposomes for Targeted Delivery of Active Agents against Neurodegenerative Diseases (Alzheimer's Disease and Parkinson's Disease

Directory of Open Access Journals (Sweden)

Carlos Spuch

2011-01-01

Full Text Available Neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease represent a huge unmet medical need. The prevalence of both diseases is increasing, but the efficacy of treatment is still very limited due to various factors including the blood brain barrier (BBB. Drug delivery to the brain remains the major challenge for the treatment of all neurodegenerative diseases because of the numerous protective barriers surrounding the central nervous system. New therapeutic drugs that cross the BBB are critically needed for treatment of many brain diseases. One of the significant factors on neurotherapeutics is the constraint of the blood brain barrier and the drug release kinetics that cause peripheral serious side effects. Contrary to common belief, neurodegenerative and neurological diseases may be multisystemic in nature, and this presents numerous difficulties for their potential treatment. Overall, the aim of this paper is to summarize the last findings and news related to liposome technology in the treatment of neurodegenerative diseases and demonstrate the potential of this technology for the development of novel therapeutics and the possible applications of liposomes in the two most widespread neurodegenerative diseases, Alzheimer's disease and Parkinson's disease.

Spatial extent of analysis influences observed patterns of population genetic structure in a widespread darter species (Percidae)

Science.gov (United States)

Argentina, Jane E.; Angermeier, Paul L.; Hallerman, Eric M.; Welsh, Stuart A.

2018-01-01

Connectivity among stream fish populations allows for exchange of genetic material and helps maintain genetic diversity, adaptive potential and population stability over time. Changes in species demographics and population connectivity have the potential to permanently alter the genetic patterns of stream fish, although these changes through space and time are variable and understudied in small‐bodied freshwater fish.As a spatially widespread, common species of benthic freshwater fish, the variegate darter (Etheostoma variatum) is a model species for documenting how patterns of genetic structure and diversity respond to increasing isolation due to large dams and how scale of study may shape our understanding of these patterns. We sampled variegate darters from 34 sites across their range in the North American Ohio River basin and examined how patterns of genetic structure and diversity within and between populations responded to historical population changes and dams within and between populations.Spatial scale and configuration of genetic structure varied across the eight identified populations, from tributaries within a watershed, to a single watershed, to multiple watersheds that encompass Ohio River mainstem habitats. This multiwatershed pattern of population structuring suggests genetic dispersal across large distances was and may continue to be common, although some populations remain isolated despite no apparent structural dispersal barriers. Populations with low effective population sizes and evidence of past population bottlenecks showed low allelic richness, but diversity patterns were not related to watershed size, a surrogate for habitat availability. Pairwise genetic differentiation (FST) increased with fluvial distance and was related to both historic and contemporary processes. Genetic diversity changes were influenced by underlying population size and stability, and while instream barriers were not strong determinants of genetic structuring or

Women's Heart Disease: Heart Disease Risk Factors

Science.gov (United States)

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

The molecular basis for stability of heterochromatin-mediated silencing in mammals.

Science.gov (United States)

Hiragami-Hamada, Kyoko; Xie, Sheila Q; Saveliev, Alexander; Uribe-Lewis, Santiago; Pombo, Ana; Festenstein, Richard

2009-11-04

The archetypal epigenetic phenomenon of position effect variegation (PEV) in Drosophila occurs when a gene is brought abnormally close to heterochromatin, resulting in stochastic silencing of the affected gene in a proportion of cells that would normally express it. PEV has been instrumental in unraveling epigenetic mechanisms. Using an in vivo mammalian model for PEV we have extensively investigated the molecular basis for heterochromatin-mediated gene silencing. Here we distinguish 'epigenetic effects' from other cellular differences by studying ex vivo cells that are identical, apart from the expression of the variegating gene which is silenced in a proportion of the cells. By separating cells according to transgene expression we show here that silencing appears to be associated with histone H3 lysine 9 trimethylation (H3K9me3), DNA methylation and the localization of the silenced gene to a specific nuclear compartment enriched in these modifications. In contrast, histone H3 acetylation (H3Ac) and lysine 4 di or tri methylation (H3K4me2/3) are the predominant modifications associated with expression where we see the gene in a euchromatic compartment. Interestingly, DNA methylation and inaccessibility, rather than H3K9me3, correlated most strongly with resistance to de-repression by cellular activation. These results have important implications for understanding the contribution of specific factors involved in the establishment and maintenance of gene silencing and activation in vivo.

Il mare della fertilità Una analisi antropologica della tetralogia di Mishima Yukio

Directory of Open Access Journals (Sweden)

Giovanni Azzaroni

2013-05-01

Full Text Available Abstract – IT Neve di primavera è il primo romanzo della tetralogia 'Il mare della fertilità', il capolavoro dello scrittore giapponese, che si snoda in un Giappone caratterizzato sia da una cultura ancestrale sia da una invadente modernità e prelude a quel drammatico 25 novembre 1970 quando Mishima, scritte le ultime parole della tetralogia, si suicidò con l’antico rituale del seppuku. Neve di primavera è una narrazione polisemica costruita su opposizioni binarie strutturali, le vicende dei personaggi sono calate in un preciso contesto storico e culturale e per decodificarle è proposta una metodologia antropologica, nel tentativo, al tempo stesso, di coglierne le variegate e molteplici sfumature e, nel contempo, anche le interconnessioni con il tessuto ontologico che ne ha favorito il nascere e lo svilupparsi. Abstract – EN Spring snow is the first novel of the tetralogy The sea of Fertility, the masterpiece of the Japanese writer, which takes place in ancient and modern Japan. The novel is a prelude to the dramatic 25th November 1970: Mishima finished the tetralogy and committed suicide by the ancient seppuku ritual. Spring snow is a polisemic story which is constructed by binary and structural oppositions, the plot of the characters is drawn on a exact, historical and cultural context to catch either the variegated and various shadings or the relations with the ontological substratum, which helped its birth and development.

Il mare della fertilità Una analisi antropologica della tetralogia di Mishima Yukio

Directory of Open Access Journals (Sweden)

Giovanni Azzaroni

2012-01-01

Full Text Available Abstract – IT Neve di primavera è il primo romanzo della tetralogia Il mare della fertilità, il capolavoro dello scrittore giapponese, che si snoda in un Giappone caratterizzato sia da una cultura ancestrale sia da una invadente modernità e prelude a quel drammatico 25 novembre 1970 quando Mishima, scritte le ultime parole della tetralogia, si suicidò con l’antico rituale del seppuku. Neve di primavera è una narrazione polisemica costruita su opposizioni binarie strutturali, le vicende dei personaggi sono calate in un preciso contesto storico e culturale e per decodificarle è proposta una metodologia antropologica, nel tentativo, al tempo stesso, di coglierne le variegate e molteplici sfumature e, nel contempo, anche le interconnessioni con il tessuto ontologico che ne ha favorito il nascere e lo svilupparsi. Abstract – EN Spring snow is the first novel of the tetralogy The sea of Fertility, the masterpiece of the Japanese writer, which takes place in ancient and modern Japan. The novel is a prelude to the dramatic 25th November 1970: Mishima finished the tetralogy and committed suicide by the ancient seppuku ritual. Spring snow is a polisemic story which is constructed by binary and structural oppositions, the plot of the characters is drawn on a exact, historical and cultural context to catch either the variegated and various shadings or the relations with the ontological substratum, which helped its birth and development.

The molecular basis for stability of heterochromatin-mediated silencing in mammals

Directory of Open Access Journals (Sweden)

Hiragami-Hamada Kyoko

2009-11-01

Full Text Available Abstract The archetypal epigenetic phenomenon of position effect variegation (PEV in Drosophila occurs when a gene is brought abnormally close to heterochromatin, resulting in stochastic silencing of the affected gene in a proportion of cells that would normally express it. PEV has been instrumental in unraveling epigenetic mechanisms. Using an in vivo mammalian model for PEV we have extensively investigated the molecular basis for heterochromatin-mediated gene silencing. Here we distinguish 'epigenetic effects' from other cellular differences by studying ex vivo cells that are identical, apart from the expression of the variegating gene which is silenced in a proportion of the cells. By separating cells according to transgene expression we show here that silencing appears to be associated with histone H3 lysine 9 trimethylation (H3K9me3, DNA methylation and the localization of the silenced gene to a specific nuclear compartment enriched in these modifications. In contrast, histone H3 acetylation (H3Ac and lysine 4 di or tri methylation (H3K4me2/3 are the predominant modifications associated with expression where we see the gene in a euchromatic compartment. Interestingly, DNA methylation and inaccessibility, rather than H3K9me3, correlated most strongly with resistance to de-repression by cellular activation. These results have important implications for understanding the contribution of specific factors involved in the establishment and maintenance of gene silencing and activation in vivo.

Induced chlorophyll variation in pineapple c v. 'queen' by gamma irradiation (60Cobalt)

International Nuclear Information System (INIS)

Valencia, Lolita DC.

2012-01-01

Irradiation using gamma rays ( 60 Cobalt) coupled with in vitro culture techniques was undertaken to induce variation or mutation in pineapple. Calli from crown meristem tips of pineapple cv 'Queen' [Ananas comosus (L.) Merr.] were initiated using Murashiege and Skoog's basal meduim supplemented with 10mg/liter 4-amino-3,5,6-trichloro-2-pyrodinecarboxylic acid (Picloram). High percentage of growth and shoot proliferation was observed in basal medium supplemented with 50 μM benzene adenine purine (BAP) and 10 μM gibberrelic acid (GA) after 8 weeks in vitro. Regenerants derived from shoots using different doses of gamma rays (0, 5, 10, 15, 20, 25 and 30 Gy) were evaluated under laboratory conditions. Of the different doses, 15 Gy produced the most variegation in young shoots (chlorophyll variants) maintained in vitro. The variants appeared to have yellow and green color combinations of the young leaves of pineapple 'Queen' variety. When transplanted inside the greenhouse, high percentage of plantlets survival was observed, ranging from 90-95%. Of the different irradiation doses, variegation in young leaves was observed at 15, 20, 25 and 30 Gy. Further assessment on the effect of irradiation is currently being unertaken under screen house conditions. The variants produced could serve a basis for selection of ornamental-type pineapple. In addition, protocols developed on the use of in vitro culture techniques could be utilized as a tool for induced mutation breeding in pineapple. (author)

75 FR 17289 - Citrus Seed Imports; Citrus Greening and Citrus Variegated Chlorosis

Science.gov (United States)

2010-04-06

... Argentina and Jamaica after the October 6, 2009, Federal Import Quarantine Order was issued, we are... differing genetic histories. Nursery stock, plants, and other propagative plant material that can be..., Murraya, Poncirus, Severinia, Swinglea, Toddalia, Triphasia, and Vepris from Argentina, Bangladesh, Belize...

76 FR 8603 - Citrus Seed Imports; Citrus Greening and Citrus Variegated Chlorosis

Science.gov (United States)

2011-02-15

.../fdmspublic/component/main?main=DocketDetail&d=APHIS-2008-0052 . Comments on the interim rule were required to... that end, we cited a 2003 study \\6\\ by W.B. Li et al. (referred to below as Li et al.). \\6\\ Li, W.B., W... out that Li et al. was conducted only on three [[Page 8605

The Relationship Between Fatty Liver Disease and Periodontal Disease

Science.gov (United States)

2017-03-22

Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...destruction seen in periodontal disease. The association between the two diseases has never been investigated. A reasonable mechanism in which periodontal ...disease may play a role in the destruction seen in NAFLD is the remote site infection of periodontal disease. Chewing and oral hygiene measures lead to

Nonalcoholic fatty liver disease - A multisystem disease?

Science.gov (United States)

Mikolasevic, Ivana; Milic, Sandra; Turk Wensveen, Tamara; Grgic, Ivana; Jakopcic, Ivan; Stimac, Davor; Wensveen, Felix; Orlic, Lidija

2016-01-01

Non-alcoholic fatty liver disease (NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome (MetS). Importantly, NAFLD is one of its most dangerous complications because it can lead to severe liver pathologies, including fibrosis, cirrhosis and hepatic cellular carcinoma. Given the increasing worldwide prevalence of obesity, NAFLD has become the most common cause of chronic liver disease and therefore is a major global health problem. Currently, NAFLD is predominantly regarded as a hepatic manifestation of MetS. However, accumulating evidence indicates that the effects of NAFLD extend beyond the liver and are negatively associated with a range of chronic diseases, most notably cardiovascular disease (CVD), diabetes mellitus type 2 (T2DM) and chronic kidney disease (CKD). It is becoming increasingly clear that these diseases are the result of the same underlying pathophysiological processes associated with MetS, such as insulin resistance, chronic systemic inflammation and dyslipidemia. As a result, they have been shown to be independent reciprocal risk factors. In addition, recent data have shown that NAFLD actively contributes to aggravation of the pathophysiology of CVD, T2DM, and CKD, as well as several other pathologies. Thus, NAFLD is a direct cause of many chronic diseases associated with MetS, and better detection and treatment of fatty liver disease is therefore urgently needed. As non-invasive screening methods for liver disease become increasingly available, detection and treatment of NAFLD in patients with MetS should therefore be considered by both (sub-) specialists and primary care physicians. PMID:27920470

Cardiovascular diseases

International Nuclear Information System (INIS)

Kodama, Kazunori

1992-01-01

This paper is aimed to discuss the involvement of delayed radiation effects of A-bomb exposure in cardiovascular diseases. First, the relationship between radiation and cardiovascular diseases is reviewed in the literature. Animal experiments have confirmed the relationship between ionizing radiation and vascular lesions. There are many reports which describe ischemic heart disease, cervical and cerebrovascular diseases, and peripheral disease occurring after radiation therapy. The previous A-bomb survivor cohort studies, i.e., the RERF Life Span Study and Adult Health Study, have dealt with the mortality rate from cardiovascular diseases, the prevalence or incidence of cardiovascular diseases, pathological findings, clinical observation of arteriosclerosis, ECG abnormality, blood pressure abnormality, and cardiac function. The following findings have been suggested: (1) A-bomb exposure is likely to be involved in the mortality rate and incidence of ischemic heart disease and cerebrovascular diseases; (2) similarly, the involvement of A-bomb exposure is considered in the prevalence of the arch of aorta; (3) ECG abnormality corresponding to ischemic heart disease may reflect the involvement of A-bomb exposure. To confirm the above findings, further studies are required on the basis of more accurate information and the appropriate number of cohort samples. Little evidence has been presented for the correlation between A-bomb exposure and both rheumatic heart disease and congenital heart disease. (N.K.) 88 refs

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn's disease.

Science.gov (United States)

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-07-28

To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn's disease (CD). Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 +/- 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 +/- 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients.

Overview of technical trend of optical fiber/cable and research and development strategy of Samsung

Science.gov (United States)

Kim, Jin H.

2005-01-01

Fiber-to-the-Premise (FTTP), a keyword in the current fiber and cable industry, leads us variegated directions of the research and development activities. In fact, this momentum of industry seems to be weak yet, since the bandwidth demand by market is still unbalanced to the capacity in the several market segments. However, the recent gradual recovery in metro and access network indicates a positive sign for FTTP deployment projects. It is the very preferable for us to optimize R&D strategy applicable to the current market trend of sequential investment.

Celiac disease and new diseases related to gluten

Science.gov (United States)

Jiménez Ortega, Ana Isabel; Martínez García, Rosa María; Quiles Blanco, María José; Majid Abu Naji, Jamil Abdel; González Iglesias, María José

2016-07-12

Celiac disease is the most common chronic intestinal disease. Nowadays it´s known that this is a multisistemic pathology of immune mechanism, triggered by gluten, which occurs in genetically susceptible individuals. It affects approximately 1% of the world population, which is a very high prevalence, affects all age groups and has symptoms both digestive and extra-digestive. Since it is a disease that requires maintaining a gluten-free diet and medical monitoring for life, it is important to know it and establish its diagnosis properly. Along with celiac disease a number of new diseases related to gluten are diagnosed increasingly, including the non celiac gluten sensitivity or wheat allergy. The suffering of celiac disease, or other related diseases, by conditioning diet changes of the affected individual, it may be associated with nutritional imbalances that need to monitor and try to solve. Therefore patients with this problem need special nutritional advice.

Refractory disease in autoimmune diseases

NARCIS (Netherlands)

Vasconcelos, Carlos; Kallenberg, Cees; Shoenfeld, Yehuda

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

Thyroid diseases and cerebrovascular disease

NARCIS (Netherlands)

Squizzato, A.; Gerdes, V. E. A.; Brandjes, D. P. M.; Büller, H. R.; Stam, J.

2005-01-01

Background and Purpose-Acute cerebral ischemia has been described in different diseases of the thyroid gland, and not only as a result of thyrotoxic atrial fibrillation and cardioembolic stroke. The purpose of this review is to summarize the studies on the relationship between thyroid diseases and

A disease state fingerprint for evaluation of Alzheimer's disease

DEFF Research Database (Denmark)

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization...... interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease......'s degree of similarity to previously diagnosed disease population. A summary of patient data and results of the computation are displayed in a succinct Disease State Fingerprint (DSF) visualization. The visualization clearly discloses how patient data contributes to the AD state, facilitating rapid...

Dermatological diseases in patients with chronic kidney disease.

Science.gov (United States)

Gagnon1, Amy L; Desai, Tejas

2013-04-01

There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

Addison's Disease

Science.gov (United States)

... of potassium and low levels of sodium. What causes Addison’s disease? Addison’s disease is caused by injury to your ... example, a problem with your pituitary gland can cause secondary Addison’s disease. Or, you may develop Addison’s disease if you ...

Heart Diseases

Science.gov (United States)

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

Estrogen-related and other disease diagnoses preceding Parkinson's disease

DEFF Research Database (Denmark)

Latourelle, Jeanne C; Dybdal, Merete; Destefano, Anita L

2010-01-01

Estrogen exposure has been associated with the occurrence of Parkinson's disease (PD), as well as many other disorders, and yet the mechanisms underlying these relations are often unknown. While it is likely that estrogen exposure modifies the risk of various diseases through many different...... mechanisms, some estrogen-related disease processes might work in similar manners and result in association between the diseases. Indeed, the association between diseases need not be due only to estrogen-related factors, but due to similar disease processes from a variety of mechanisms....

The diversity of citrus endophytic bacteria and their interactions with Xylella fastidiosa and host plants

Directory of Open Access Journals (Sweden)

João Lúcio Azevedo

Full Text Available Abstract The bacterium Xylella fastidiosa is the causal agent of citrus variegated chlorosis (CVC and has been associated with important losses in commercial orchards of all sweet orange [Citrus sinensis (L.] cultivars. The development of this disease depends on the environmental conditions, including the endophytic microbial community associated with the host plant. Previous studies have shown that X. fastidiosa interacts with the endophytic community in xylem vessels as well as in the insect vector, resulting in a lower bacterial population and reduced CVC symptoms. The citrus endophytic bacterium Methylobacterium mesophilicum can trigger X. fastidiosa response in vitro, which results in reduced growth and induction of genes associated with energy production, stress, transport, and motility, indicating that X. fastidiosa has an adaptive response to M. mesophilicum. Although this response may result in reduced CVC symptoms, the colonization rate of the endophytic bacteria should be considered in studies that intend to use this endophyte to suppress CVC disease. Symbiotic control is a new strategy that uses symbiotic endophytes as biological control agents to antagonize or displace pathogens. Candidate endophytes for symbiotic control of CVC must occupy the xylem of host plants and attach to the precibarium of sharpshooter insects to access the pathogen. In the present review, we focus on interactions between endophytic bacteria from sweet orange plants and X. fastidiosa, especially those that may be candidates for control of CVC.

Graves' Disease

Science.gov (United States)

... 2011 survey of clinical practice patterns in the management of Graves' disease. Journal of Clinical Endocrinology and Metabolism. 2012 Dec;97( ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

Gastroesophageal Reflux Disease in Children with Interstitial Lung Disease.

Science.gov (United States)

Dziekiewicz, M A; Karolewska-Bochenek, K; Dembiński, Ł; Gawronska, A; Krenke, K; Lange, J; Banasiuk, M; Kuchar, E; Kulus, M; Albrecht, P; Banaszkiewicz, A

2016-01-01

Gastroesophageal reflux disease is common in adult patients with interstitial lung disease. However, no data currently exist regarding the prevalence and characteristics of the disease in pediatric patients with interstitial lung disease. The aim of the present study was to prospectively assess the incidence of gastroesophageal reflux disease and characterize its features in children with interstitial lung disease. Gastroesophageal reflux disease was established based on 24 h pH-impedance monitoring (MII-pH). Gastroesophageal reflux episodes (GERs) were classified according to widely recognized criteria as acid, weakly acid, weakly alkaline, or proximal. Eighteen consecutive patients (15 boys, aged 0.2-11.6 years) were enrolled in the study. Gastroesophageal reflux disease was diagnosed in a half (9/18) of children. A thousand GERs were detected by MII-pH (median 53.5; IQR 39.0-75.5). Of these, 585 (58.5 %) episodes were acidic, 407 (40.7 %) were weakly acidic, and eight (0.8 %) were weakly alkaline. There were 637 (63.7 %) proximal GERs. The patients in whom gastroesophageal reflux disease was diagnosed had a significantly higher number of proximal and total GERs. We conclude that the prevalence of gastroesophageal reflux disease in children with interstitial lung disease is high; thus, the disease should be considered regardless of presenting clinical symptoms. A high frequency of non-acid and proximal GERs makes the MII-pH method a preferable choice for the detection of reflux episodes in this patient population.

Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma: a case report and literature review.

Science.gov (United States)

Zheng, Jin-Feng; Mo, Hai-Ying; Wang, Zhen-Zheng

2014-01-01

To investigate the clinicopathological characteristics, diagnosis and differential diagnosis, and treatment of xeroderma pigmentosum associated with keratoacanthoma in an infant. The clinical manifestations of xeroderma pigmentosum associated with keratoacanthoma were assessed in an 18-month old boy. The morphological and histological features of the lesions were examined by light microscopy. An 18-month old boy was admitted with unequal size, irregularly shaped brown spots, patches and depigmentation spots on his face. A well-circumscribed hemispherical mass measuring 3 cm × 3 cm with smooth surface and brown patches was observed beneath his left lower eyelid. Light microscopic examination of the skin lesions revealed epidermal hyperkeratosis, chronic inflammatory infiltration of the superficial dermal layer, and increases in melanocytes and melanin in the basal layer. Scanning microscopy showed that the mass beneath the left lower eyelid was cup-shaped, consisting of proliferating squamous cells with a central keratin plug. The squamous epithelium was acanthotic with hypergranulosis. The adjacent epidermis formed exophytic projections resulting in a silhouette likened to lips. An associated inflammatory reaction was observed within the stroma surrounding the mass. The patient was treated with a combination of antioxidant drugs, keeping the child from light and surgical excision of the mass. No recurrence has been observed. Xeroderma pigmentosum of infancy is a rare disease, and association with keratoacanthoma is even rarer. This condition should be considered in the differential diagnosis of freckles, Rothmund-Thomson syndrome and porphyria.

Disease-modifying drugs in Alzheimer's disease

Directory of Open Access Journals (Sweden)

Ghezzi L

2013-12-01

Full Text Available Laura Ghezzi, Elio Scarpini, Daniela Galimberti Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Abstract: Alzheimer's disease (AD is an age-dependent neurodegenerative disorder and the most common cause of dementia. The early stages of AD are characterized by short-term memory loss. Once the disease progresses, patients experience difficulties in sense of direction, oral communication, calculation, ability to learn, and cognitive thinking. The median duration of the disease is 10 years. The pathology is characterized by deposition of amyloid beta peptide (so-called senile plaques and tau protein in the form of neurofibrillary tangles. Currently, two classes of drugs are licensed by the European Medicines Agency for the treatment of AD, ie, acetylcholinesterase inhibitors for mild to moderate AD, and memantine, an N-methyl-D-aspartate receptor antagonist, for moderate and severe AD. Treatment with acetylcholinesterase inhibitors or memantine aims at slowing progression and controlling symptoms, whereas drugs under development are intended to modify the pathologic steps leading to AD. Herein, we review the clinical features, pharmacologic properties, and cost-effectiveness of the available acetylcholinesterase inhibitors and memantine, and focus on disease-modifying drugs aiming to interfere with the amyloid beta peptide, including vaccination, passive immunization, and tau deposition. Keywords: Alzheimer's disease, acetylcholinesterase inhibitors, memantine, disease-modifying drugs, diagnosis, treatment

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn’s disease

Science.gov (United States)

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-01-01

AIM: To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn’s disease (CD). METHODS: Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 ± 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. RESULTS: A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 ± 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. CONCLUSION: Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients. PMID:19630105

[Inpatients days in patients with respiratory diseases and periodontal disease].

Science.gov (United States)

Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

2017-01-01

Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

Disease phenotype at diagnosis in pediatric Crohn's disease

DEFF Research Database (Denmark)

de Bie, Charlotte I; Paerregaard, Anders; Kolacek, Sanja

2013-01-01

It has been speculated that pediatric Crohn's disease (CD) is a distinct disease entity, with probably different disease subtypes. We therefore aimed to accurately phenotype newly diagnosed pediatric CD by using the pediatric modification of the Montreal classification, the Paris classification....

Skin diseases: prevalence and predictors of itch and disease severity.

OpenAIRE

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General definitions of health encompass different dimensions of disease outcome divided in disease severity, accompanying physical symptoms, and psychosocial well-being. These dimensions of disease outcom...

[Parkinson's disease(s): recent insight into genetic factors

NARCIS (Netherlands)

Warrenburg, B.P.C. van de; Scheffer, H.; Heutink, P.; Bloem, B.R.

2007-01-01

In recent years, 5 genes have been identified that are unambiguously associated with genetic forms of Parkinson's disease. These genes probably explain less than 10% of all cases of Parkinson's disease. Clinically, these genetic forms can closely resemble idiopathic Parkinson's disease. Mutation

Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

Science.gov (United States)

Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

2011-01-01

The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

Periodontal Disease and Systemic Diseases: An Update for the Clinician.

Science.gov (United States)

John, Vanchit; Alqallaf, Hawra; De Bedout, Tatiana

2016-01-01

A link between periodontal disease and various systemic diseases has been investigated for several years. Interest in unearthing such a link has grown as the health care profession is looking for a better understanding of disease processes and their relationships to periodontal and other oral diseases. The article aims to provide recent information on the relationship between periodontal disease and systemic diseases such as; cardiovascular, respiratory, endocrine, musculoskeletal, and reproductive system related abnormalities.

Occupational skin diseases

DEFF Research Database (Denmark)

Mahler, V; Aalto-Korte, K; Alfonso, J H

2017-01-01

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

Lysosomal storage diseases

Science.gov (United States)

Ferreira, Carlos R.; Gahl, William A.

2016-01-01

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively. PMID:29152458

Pick disease

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Semantic dementia; Dementia - semantic; Frontotemporal dementia; FTD; Arnold Pick disease; 3R tauopathy ... doctors tell Pick disease apart from Alzheimer disease. (Memory loss is often the main, and earliest, symptom ...

Prevalence of coeliac disease in Italian patients affected by Addison's disease.

Science.gov (United States)

Biagi, Federico; Campanella, Jonia; Soriani, Alessandra; Vailati, Alberto; Corazza, Gino R

2006-03-01

It is well known that coeliac disease is associated with autoimmune endocrine diseases, such as autoimmune thyroid disease and insulin-dependent diabetes mellitus. Recently, coeliac disease has been shown in approximately 10% of patients with autoimmune Addison's disease. Addison's disease is the most common cause of primary adrenocortical insufficiency and it shares several clinical features with coeliac disease. Although hyperpigmentation and hypotension are the most specific signs, gastrointestinal symptoms are common and can be the first complaints of the patients. The aim of our study was to investigate the prevalence of coeliac disease in Italian patients with Addison's disease. Seventeen consecutive patients affected by Addison's disease (14 F, mean age 53.9 years, range 26-79 years) were enrolled in the study. Eleven of them were affected by Addison's disease associated with autoimmune thyroid disease and/or insulin-dependent diabetes mellitus; the other 6 patients were suffering from isolated Addison's disease. Diagnosis had been performed at the age of 40.5 years (range 23-55). Steroid treatment had already been started in 16 of the patients. Endomysial antibodies were tested in all of them and a duodenal biopsy was taken in those found to be positive for antiendomysial antibody (EMA). One out of 17 patients was found to be EMA positive. Duodenal biopsy confirmed the diagnosis of coeliac disease by showing subtotal villous atrophy. Although we studied only a small sample, our preliminary results confirmed that Addison's disease is associated with coeliac disease, being present in 5.9% of patients with Addison's disease. Since the symptoms can be similar and treatment of Addison's disease can mask coeliac disease, this association should always be actively investigated.

A disease state fingerprint for evaluation of Alzheimer's disease

DEFF Research Database (Denmark)

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization...... interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease...

Celiac disease

Directory of Open Access Journals (Sweden)

Holtmeier Wolfgang

2006-03-01

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

Heavy Chain Diseases

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... of heavy chain produced: Alpha Gamma Mu Alpha Heavy Chain Disease Alpha heavy chain disease (IgA heavy ... the disease or lead to a remission. Gamma Heavy Chain Disease Gamma heavy chain disease (IgG heavy ...

Celiac Disease

Directory of Open Access Journals (Sweden)

Manoochehr Karjoo

2014-08-01

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

Prion Diseases

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... with facebook share with twitter share with linkedin Prion Diseases Prion diseases are a related group of ... deer and elk. Why Is the Study of Prion Diseases a Priority for NIAID? Much about TSE ...

Diabetic Eye Disease

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... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group ... eye diseases that can threaten your sight are Diabetic retinopathy The retina is the inner lining at ...

Infectious Diseases

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... But some of them can make you sick. Infectious diseases are diseases that are caused by germs. There ... many different ways that you can get an infectious disease: Through direct contact with a person who is ...

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

Science.gov (United States)

... Adult Diseases Resources Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination Language: English (US) Español (Spanish) ... important step in staying healthy. If you have cardiovascular disease, talk with your doctor about getting your vaccinations ...

Association of Relationship between Periodontal Disease and Cardiovascular Disease.

Science.gov (United States)

Johar, N; Dhodapkar, S V; Kumar, R; Verma, T; Jajoo, A

2017-04-01

The present study was undertaken to determine the relationship between periodontal and cardiovascular disease. Previous studies have shown some co-relation between the two conditions. We included 186 patients divided into four groups. First two Groups (A1 & A2) were the patients with cardiac disease (100 in numbers) whilst Groups (B1 & B2) (86 in numbers) were treated as controls (without cardiac disease). Following markers of periodontal disease were assessed - plaque index, calculus index, gingival and periodontal index. Markers of cardiovascular disease included were LDL, HDL, total cholesterol and CRP. Ramfjords periodontal index was used to assess the extent of periodontal disease. In the present study there was a significant increase in CRP levels in Group A1 (CVD + PD) compared to controls and overall the two cardiac groups showed a significant increase in CRP compared to controls. There was a non-significant change in lipid profile markers (LDL, HDL and total cholesterol). Periodontal Disease Index (PDI) was also increased in Group A1 compared to other groups except Group B1 and overall in cardiac groups compared to non-cardiac (PD) groups. In this study no correlation between periodontal and cardiovascular disease was found. This may be due intake of statins by few patients in Group A with a confirmed diagnosis of cardiovascular disease.

Prostate Diseases

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... Home › Aging & Health A to Z › Prostate Diseases Font size A A A Print Share Glossary Basic ... body. Approximately 3 million American men have some type of prostate disease. The most common prostate diseases ...

Periodontal Diseases

Science.gov (United States)

... diseases. The primary research focus was on oral bacteria. Periodontal diseases were thought to begin when chalky white ... tools to target their treatment specifically to the bacteria that trigger periodontal disease. At the same time, because biofilms form ...

Chronic Inflammatory Diseases and Atherosclerotic Cardiovascular Disease

DEFF Research Database (Denmark)

Hansen, Peter Riis

2018-01-01

Inflammation plays a significant role in atherosclerosis and cardiovascular disease (CVD). Patients with chronic inflammatory diseases are at increased risk of CVD, but it is debated whether this association is causal or dependent on shared risk factors, other exposures, genes, and/or inflammatory...... pathways. The current review summarizes epidemiological, clinical, and experimental data supporting the role of shared inflammatory mechanisms between atherosclerotic CVD and rheumatoid arthritis, psoriasis, inflammatory bowel disease, and periodontitis, respectively, and provides insights to future...... prospects in this area of research. Awareness of the role of inflammation in CVD in patients with chronic inflammatory diseases and the potential for anti-inflammatory therapy, e.g., with tumor necrosis factor-α inhibitors, to also reduce atherosclerotic CVD has evolved into guideline- based recommendations...

Sexual dimorphism in white campion: complex control of carpel number is revealed by Y chromosome deletions

International Nuclear Information System (INIS)

Lardon, A.; Georgiev, S.; Aghmir, A.; Le Merrer, G.; Negrutiu, I.

1999-01-01

Sexual dimorphism in the dioecious plant white campion (Silene latifolia = Melandrium album) is under the control of two main regions on the Y chromosome. One such region, encoding the gynoecium-suppressing function (GSF), is responsible for the arrest of carpel initiation in male flowers. To generate chromosomal deletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored. The mutants resulted from alterations in at least two GSF chromosomal regions, one autosomal and one located on the distal half of the (p)-arm of the Y chromosome. The two mutations affected carpel development independently, each mutation showing incomplete penetrance and variegation, albeit at significantly different levels. During successive meiotic generations, a progressive increase in penetrance and a reduction in variegation levels were observed and quantified at the level of the Y-linked GSF (GSF-Y). Possible mechanisms are proposed to explain the behavior of the bsx mutations: epigenetic regulation or/and second-site mutation of modifier genes. In addition, studies on the inheritance of the hermaphroditic trait showed that, unlike wild-type Y chromosomes, deleted Y chromosomes can be transmitted through both the male and the female lines. Altogether, these findings bring experimental support, on the one hand, to the existence on the Y chromosome of genic meiotic drive function(s) and, on the other hand, to models that consider that dioecy evolved through multiple mutation events. As such, the GSF is actually a system containing more than one locus and whose primary component is located on the Y chromosome

WHITE PANICLE3, a Novel Nucleus-Encoded Mitochondrial Protein, Is Essential for Proper Development and Maintenance of Chloroplasts and Mitochondria in Rice

Directory of Open Access Journals (Sweden)

Hongchang Li

2018-06-01

Full Text Available Mitochondria and chloroplasts are interacting organelles that play important roles in plant development. In addition to a small number proteins encoded by their own genomes, the majority of mitochondrial and chloroplast proteins are encoded in the cell nucleus and imported into the organelle. As a consequence, coordination between mitochondria, chloroplasts, and the nucleus is of crucial importance to plant cells. Variegated mutants are chloroplast-defective mutants and are considered to be ideal models for studying the intercommunication between these organelles. Here, we report the isolation of WHITE PANICLE3 (WP3, a nuclear gene involved in variegation, from a naturally occurring white panicle rice mutant. Disrupted expression of WP3 in the mutant leads to severe developmental defects in both chloroplasts and mitochondria, and consequently causes the appearance of white-striped leaves and white panicles in the mutant plants. Further investigation showed that WP3 encodes a protein most likely targeted to mitochondria and is specifically expressed in rice panicles. Interestingly, we demonstrate that the recessive white-panicle phenotype in the wp3 mutant is inherited in a typical Mendelian manner, while the white-striped leaf phenotype in wp3 is maternally inherited. Our data collectively suggest that the nucleus-encoded mitochondrial protein, WP3, plays an essential role in the regulation of chloroplast development in rice panicles by maintaining functional mitochondria. Therefore, the wp3 mutant is an excellent model in which to explore the communication between the nucleus, mitochondria, and chloroplasts in plant cells.

Chromatic illumination discrimination ability reveals that human colour constancy is optimised for blue daylight illuminations.

Directory of Open Access Journals (Sweden)

Bradley Pearce

Full Text Available The phenomenon of colour constancy in human visual perception keeps surface colours constant, despite changes in their reflected light due to changing illumination. Although colour constancy has evolved under a constrained subset of illuminations, it is unknown whether its underlying mechanisms, thought to involve multiple components from retina to cortex, are optimised for particular environmental variations. Here we demonstrate a new method for investigating colour constancy using illumination matching in real scenes which, unlike previous methods using surface matching and simulated scenes, allows testing of multiple, real illuminations. We use real scenes consisting of solid familiar or unfamiliar objects against uniform or variegated backgrounds and compare discrimination performance for typical illuminations from the daylight chromaticity locus (approximately blue-yellow and atypical spectra from an orthogonal locus (approximately red-green, at correlated colour temperature 6700 K, all produced in real time by a 10-channel LED illuminator. We find that discrimination of illumination changes is poorer along the daylight locus than the atypical locus, and is poorest particularly for bluer illumination changes, demonstrating conversely that surface colour constancy is best for blue daylight illuminations. Illumination discrimination is also enhanced, and therefore colour constancy diminished, for uniform backgrounds, irrespective of the object type. These results are not explained by statistical properties of the scene signal changes at the retinal level. We conclude that high-level mechanisms of colour constancy are biased for the blue daylight illuminations and variegated backgrounds to which the human visual system has typically been exposed.

The lysosomal storage disease continuum with ageing-related neurodegenerative disease.

Science.gov (United States)

Lloyd-Evans, Emyr; Haslett, Luke J

2016-12-01

Lysosomal storage diseases and diseases of ageing share many features both at the physiological level and with respect to the mechanisms that underlie disease pathogenesis. Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases. The aim of this review is to provide a summary of the shared disease mechanisms, outlining the similarities and differences and how genetics, insight into rare diseases and functional research has changed our perspective on the causes underlying common diseases of ageing. The lysosome should no longer be considered as just the stomach of the cell or as a suicide bag, it has an emerging role in cellular signalling, nutrient sensing and recycling. The lysosome is of fundamental importance in the pathophysiology of diseases of ageing and by comparing against the LSDs we not only identify common pathways but also therapeutic targets so that ultimately more effective treatments can be developed for all neurodegenerative diseases. Copyright © 2016. Published by Elsevier B.V.

Periodontal disease and non-communicable diseases. Strength of bidirectional associations

OpenAIRE

Kassier, SM

2016-01-01

Periodontal disease (PD), along with cardiovascular and circulatory disease, diabetes mellitus, chronic respiratory disease and obesity, are globally regarded as some of the major non-communicable diseases (NCDs). The association between PD and these systemic illnesses is described as bidirectional. Gaining an understanding of the strength of the proposed associations between these diseases is important, as it will enable health professionals to identify common risk factors that will allow fo...

Dent disease

Directory of Open Access Journals (Sweden)

Rina R Rus

2017-04-01

Full Text Available Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Signs and symptoms of this condition appear in early childhood and worsen over time. There are two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms (type 1 and type 2. Dent disease 2 is characterized by the features described above and also associated with extrarenal abnormalities (they include mild intellectual disability, hypotonia, and cataract. Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.We represent a case of a 3-year old boy with significant proteinuria in the nephrotic range and hypercalciuria. We confirmed Dent disease type 1 by genetic analysis.

Prevalence of periodontal disease, its association with systemic diseases and prevention.

Science.gov (United States)

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular disease, diabetes, and adverse pregnancy outcomes. Periodontal disease is likely to cause 19% increase in the risk of cardiovascular disease, and this increase in relative risk reaches to 44% among individuals aged 65 years and over. Type 2 diabetic individuals with severe form of periodontal disease have 3.2 times greater mortality risk compared with individuals with no or mild periodontitis. Periodontal therapy has been shown to improve glycemic control in type 2 diabetic subjects. Periodontitis is related to maternal infection, preterm birth, low birth weight, and preeclampsia. Oral disease prevention strategies should be incorporated in chronic systemic disease preventive initiatives to curtail the burden of disease in populations. The reduction in the incidence and prevalence of periodontal disease can reduce its associated systemic diseases and can also minimize their financial impact on the health-care systems. It is hoped that medical, dental practitioners, and other health-care professionals will get familiar with perio-systemic link and risk factors, and need to refer to the specialized dental or periodontal care.

DISEASES

DEFF Research Database (Denmark)

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

2015-01-01

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

TEMPORAL ORDER OF DISEASE PAIRS AFFECTS SUBSEQUENT DISEASE TRAJECTORIES

DEFF Research Database (Denmark)

Beck, Mette K; Westergaard, David; Jensen, Anders Boeck

2016-01-01

order of appearance. We discuss these different types of disease co-occurrences, and use the two diseases "sleep apnea" and "diabetes" to showcase the approach which otherwise can be applied to any disease pair. We benefit from seven million electronic medical records covering the entire population...... of Denmark for more than 20 years. Sleep apnea is the most common sleep-related breathing disorder and it has previously been shown to be bidirectionally linked to diabetes, meaning that each disease increases the risk of acquiring the other. We confirm that there is no significant temporal relationship......, as approximately half of patients with both diseases are diagnosed with diabetes first. However, we also show that patients diagnosed with diabetes before sleep apnea have a higher disease burden compared to patients diagnosed with sleep apnea before diabetes. The study clearly demonstrates that it is not only...

Coronary heart disease

Science.gov (United States)

Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... buildup of plaque in the arteries to your heart. This may also be called hardening of the ...

Autoinflammatory Diseases

International Nuclear Information System (INIS)

Penaranda P, Edgar; Spinel B, Nestor; Restrepo, Jose F; Rondon H, Federico; Millan S, Alberto; Iglesias G Antonio

2010-01-01

We present a review article on the autoinflammatory diseases, narrating its historical origin and describing the protein and molecular structure of the Inflammasome, the current classification of the autoinflammatory diseases and a description of the immuno genetics and clinical characteristics more important of every disease.

Niemann-Pick disease

Science.gov (United States)

NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ... lipofuscinoses or Batten disease (Wolman disease, cholesteryl ... metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, ...

Chronic pulmonary disease - a multifacted disease complex in the horse

International Nuclear Information System (INIS)

Clarke, A.F.

1987-01-01

This paper reviews chronic pulmonary disease (CPD) as an insidiously developing disease capable of being manifest in many degrees. Horses may suffer mild, sub-clinical degrees of lower respiratory tract inflammation or small airway disease withouth showing symptoms at rest. This form of disease becomes manifest as poor performance when these horses take part in athletic competition. Factors relating to the aetiology, diagnosis, treatment and prevention of all degrees of small airway disease of horses are discussed. 30 refs

Gaucher disease

Science.gov (United States)

... please enable JavaScript. Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Causes Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It ...

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

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Alies van Lier

Full Text Available Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands.The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961 and influenza (8670 DALYs/year; 95% UI: 8468-8874, which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011

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Bouwknegt, Martijn; Kretzschmar, Mirjam E.; Mangen, Marie-Josée J.; Wallinga, Jacco; de Melker, Hester E.

2016-01-01

Background Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. Methods and Findings The average annual disease burden was computed for the period 2007–2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911–9961) and influenza (8670 DALYs/year; 95% UI: 8468–8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

Science.gov (United States)

van Lier, Alies; McDonald, Scott A; Bouwknegt, Martijn; Kretzschmar, Mirjam E; Havelaar, Arie H; Mangen, Marie-Josée J; Wallinga, Jacco; de Melker, Hester E

2016-01-01

Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961) and influenza (8670 DALYs/year; 95% UI: 8468-8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be attributed to the

Parkinson's Disease Dementia

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

[Emerging noninfectious diseases].

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Consiglio, Ezequiel

2008-11-01

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

Coronary heart disease after radiotherapy for peptic ulcer disease

International Nuclear Information System (INIS)

Carr, Zhanat A.; Land, Charles E.; Kleinerman, Ruth A.; Weinstock, Robert W.; Stovall, Marilyn; Griem, Melvin L.; Mabuchi, Kiyohiko

2005-01-01

Purpose: To evaluate the risk of coronary heart disease (CHD) and cerebrovascular disease after radiotherapy (RT) for peptic ulcer disease. Methods and materials: Peptic ulcer disease patients treated with RT (n = 1859) or by other means (n = 1860) at the University of Chicago Medical Center between 1936 and 1965, were followed through 1997. The observed numbers of cause-specific deaths were compared with the expected numbers from the general population rates. During RT, 5% of the heart was in the treatment field and the remainder of the heart mostly received scattered radiation. A volume-weighted cardiac dose was computed to describe the average tissue dose to the entire organ. We used Cox proportional hazards regression analysis to analyze the CHD and cerebrovascular disease risk associated with RT, adjusting for confounding factors. Results: Greater than expected CHD mortality was observed among the irradiated patients. The irradiated patients received volume-weighted cardiac doses ranging from 1.6 to 3.9 Gy and the portion of the heart directly in the field received doses of 7.6-18.4 Gy. The CHD risk increased with the cardiac dose (p trend = 0.01). The cerebrovascular disease risk was not associated with the surrogate carotid dose. Conclusion: The excess CHD risk in patients undergoing RT for peptic ulcer disease decades previously indicates the need for long-term follow-up for cardiovascular disease after chest RT

Rheumatic heart disease: infectious disease origin, chronic care approach.

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Katzenellenbogen, Judith M; Ralph, Anna P; Wyber, Rosemary; Carapetis, Jonathan R

2017-11-29

Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings. Affected individuals are young and associated morbidity is high. However, RHD is relatively neglected due to the populations involved and its lower incidence relative to other heart diseases. In this narrative review, we describe how RHD care can be informed by and integrated with models of care developed for priority non-communicable diseases (coronary heart disease), and high-burden communicable diseases (tuberculosis). Examining the four-level prevention model (primordial through tertiary prevention) suggests primordial and primary prevention of RHD can leverage off existing tuberculosis control efforts, given shared risk factors. Successes in coronary heart disease control provide inspiration for similarly bold initiatives for RHD. Further, we illustrate how the Chronic Care Model (CCM), developed for use in non-communicable diseases, offers a relevant framework to approach RHD care. Systems strengthening through greater integration of services can improve RHD programs. Strengthening of systems through integration/linkages with other well-performing and resourced services in conjunction with policies to adopt the CCM framework for the secondary and tertiary prevention of RHD in settings with limited resources, has the potential to significantly reduce the burden of RHD globally. More research is required to provide evidence-based recommendations for policy and service design.

Associated Autoimmune Diseases

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

Mad Cow Disease

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... Safe Videos for Educators Search English Español Mad Cow Disease KidsHealth / For Teens / Mad Cow Disease What's ... are people to get it? What Is Mad Cow Disease? Mad cow disease is an incurable, fatal ...

Skin Diseases: Skin Health and Skin Diseases

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

Lyme Disease.

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Taylor, George C.

1991-01-01

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

Wilson’s Disease: An Inherited, Silent, Copper Intoxication Disease

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Uta Merle

2016-07-01

Full Text Available Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene. This gene encodes for a class IB, P-type, copper-transporting ATPase, which is located in the trans-Golgi network of the liver and brain, and mediates the excretion of excess copper into the bile. When functionally inactive, the excess copper is deposited in the liver, brain, and other tissues. Free copper induces oxidative stress, lipid peroxidation, and lowers the apoptotic threshold of the cell. The symptoms in affected persons can vary widely and usually appear between the ages of 6 years and 20 years, but there are also cases in which the disease manifests in advanced age. In this review, we discuss the considerations in diagnosis, clinical management, and treatment of Wilson’s disease. In addition, we highlight experimental efforts that address the pathogenesis of Wilson’s disease in ATP7B deficient mice, novel analytical techniques that will improve the diagnosis at an early stage of disease onset, and treatment results with copper-chelating agents.

Celiac Disease: Diagnosis.

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Byrne, Greg; Feighery, Conleth F

2015-01-01

Historically the diagnosis of celiac disease has relied upon clinical, serological, and histological evidence. In recent years the use of sensitive serological methods has meant an increase in the diagnosis of celiac disease. The heterogeneous nature of the disorder presents a challenge in the study and diagnosis of the disease with patients varying from subclinical or latent disease to patients with overt symptoms. Furthermore the related gluten-sensitive disease dermatitis herpetiformis, while distinct in some respects, shares clinical and serological features with celiac disease. Here we summarize current best practice for the diagnosis of celiac disease and briefly discuss newer approaches. The advent of next-generation assays for diagnosis and newer clinical protocols may result in more sensitive screening and ultimately the possible replacement of the intestinal biopsy as the gold standard for celiac disease diagnosis.

Wireless Monitoring for Patients with Cardiovascular Diseases and Parkinson's Disease.

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Kefaliakos, Antonios; Pliakos, Ioannis; Charalampidou, Martha; Diomidous, Marianna

2016-01-01

The use of applications for mobile devices and wireless sensors is common for the sector of telemedicine. Recently various studies and systems were developed in order to help patients suffering from severe diseases such as cardiovascular diseases and Parkinson's disease. They present a challenge for the sector because such systems demand the flow of accurate data in real time and the use of specialized sensors. In this review will be presented some very interesting applications developed for patients with cardiovascular diseases and Parkinson's disease.

Wilson’s Disease

Directory of Open Access Journals (Sweden)

Figen Hanağası

2013-12-01

Full Text Available Wilson’s disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson’s disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for copper excretion into bile. Neurological symptoms in Wilson’s disease include variable combinations of dysathria, ataxia, parkinsonism, dystonia and tremor. Wilson’s disease is lethal if untreated. This review discusses the epidemiology, genetics, clinical features, etiopathophysiology, diagnostic tests, and treatment of Wilson’s disease

Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer's disease.

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Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian; Zhou, Juan

2017-11-01

Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer's disease patients with and without cerebrovascular disease. Alzheimer's disease patients without cerebrovascular disease, but not Alzheimer's disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer's disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer's disease patients with and without cerebrovascular disease. Across Alzheimer's disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer's disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer's disease patients with cerebrovascular disease showed increased executive control network structural covariance compared to controls. Our

Genotator: A disease-agnostic tool for genetic annotation of disease

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Jung Jae-Yoon

2010-10-01

Full Text Available Abstract Background Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. Methods We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Results Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. Conclusions As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked

Genotator: a disease-agnostic tool for genetic annotation of disease.

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Wall, Dennis P; Pivovarov, Rimma; Tong, Mark; Jung, Jae-Yoon; Fusaro, Vincent A; DeLuca, Todd F; Tonellato, Peter J

2010-10-29

Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked data that remains current with the pace of research in the disease

Neuroinflammation in Alzheimer's disease and prion disease

NARCIS (Netherlands)

Eikelenboom, P.; Bate, C.; van Gool, W. A.; Hoozemans, J. J. M.; Rozemuller, J. M.; Veerhuis, R.; Williams, A.

2002-01-01

Alzheimer's disease (AD) and prion disease are characterized neuropathologically by extracellular deposits of Abeta and PrP amyloid fibrils, respectively. In both disorders, these cerebral amyloid deposits are co-localized with a broad variety of inflammation-related proteins (complement factors,

Secondary Metabolites of the Cuticular Abdominal Glands of Variegated Grasshopper (Zonocerus variegatus L.

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O. U. Igwe

2015-01-01

Full Text Available Chemical compounds were extracted with petroleum ether from the cuticular abdominal glands of grasshopper (Zonocerus variegatus L. and eleven compounds were characterised using Gas Chromatography/Mass Spectrometry (GC/MS technique in combination with Fourier Transform-Infrared Spectroscopy (FT-IR. The compounds analysed were 2,7-dimethyloctane (3.21%, decane (5.33%, undecane (3.81%, tridecanoic acid methyl ester (4.76%, hexadecanoic acid (9.37%, 11-octadecenoic acid methyl ester (23.18%, pentadecanoic acid, 14-methyl-methyl ester (4.43%, (Z-13-docosenoic acid (10.71%, dodecyl pentafluoropropionate (9.52%, 2-dodecyl-1,3-propanediol (6.38%, and 1,12-tridecadiene (19.30%. FT-IR analysis of the extract showed peaks at 1270.17 (C–O and C–F, 1641.48 (C=C, 2937.68 (C–H, and 3430.51 (O–H cm−1 indicating the presence of ether, alkene, alkane, alcohol, carboxylic acid, and fluoric compounds. These compounds consisted of 32.37% ester, 31.65% hydrocarbons, 20.08% fatty acid, 9.52% halogenated ester, and 6.38% alcohol. The highest component was 11-octadecenoic acid methyl ester followed by 1,12-tridecadiene. Since behavioural bioassays were not carried out, the consideration of these compounds to be pheromone semiochemicals remains a hypothesis.

Chronic obstructive pulmonary disease and chronic heart failure: two muscle diseases?

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Troosters, Thierry; Gosselink, Rik; Decramer, Marc

2004-01-01

Chronic obstructive pulmonary disease and congestive heart failure are two increasingly prevalent chronic diseases. Although care for these patients often is provided by different clinical teams, both disease conditions have much in common. In recent decades, more knowledge about the systemic impact of both diseases has become available, highlighting remarkable similarities in terms of prognostic factors and disease management. Rehabilitation programs deal with the systemic consequences of both diseases. Although clinical research also is conducted by various researchers investigating chronic obstructive pulmonary disease and chronic heart failure, it is worthwhile to compare the progress in relation to these two diseases over recent decades. Such comparison, the purpose of the current review, may help clinicians and scientists to learn about progress made in different, yet related, fields. The current review focuses on the similarities observed in the clinical impact of muscle weakness, the mechanisms of muscle dysfunction, the strategies to improve muscle function, and the effects of exercise training on chronic obstructive pulmonary disease and chronic heart failure.

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.

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Cheon, Chong Kun; Kim, Su Yung; Yoo, Jae-Ho

2014-06-01

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya disease associated with Graves' disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves' disease had no history of other diseases or head trauma. A thyroid function test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibody titer at that time. The patients were diagnosed with Moyamoya disease based on brain magnetic resonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularization by encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resulted in successful symptom resolution. They fared well and had no additional neurological symptoms as of their last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated by Graves' disease with a review of the literature, and discuss the possible association between the two diseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associated with Graves' disease in adolescents with a euthyroid.

Phenotype and Clinical Course of Inflammatory Bowel Disease with Co-Existent Celiac Disease.

Science.gov (United States)

Tse, Chung Sang; Deepak, Parakkal; De La Fuente, Jaime; Bledsoe, Adam C; Larson, Joseph J; Murray, Joseph A; Papadakis, Konstantinos A

2018-05-07

Inflammatory bowel diseases, principally Crohn's disease and ulcerative colitis, and celiac disease are among the most common immune-mediated gastrointestinal diseases. We aim to elucidate the clinical course and outcomes of patients with concomitant inflammatory bowel disease and celiac disease, a unique population that remains scarcely studied to date. A retrospective matched case-control study of adults with coexistent inflammatory bowel disease and celiac disease was performed at a tertiary referral institution in North America. Logistic regression and Kaplan-Meier curves compared disease characteristics and clinical outcomes of the two groups. A total of 342 inflammatory bowel disease patients were included in this study, of which 114 had coexistent celiac disease and 228 did not. Patients with coexistent inflammatory bowel disease and celiac disease had higher rates of primary sclerosing cholangitis (19.3% vs 5.7%; odds ratio, 4.4; 95% confidence interval, 2.1-9.4; pceliac disease (10.5% vs 3.5%; odds ratio 3.2; 95% confidence interval 1.3-8.2; p=0.01), compared to patients without concomitant celiac disease. Patients with inflammatory bowel disease with concomitant celiac disease have unique phenotypic features compared to non-celiac inflammatory bowel disease, with higher risks for colitis-related hospitalizations, extensive colitis, and primary sclerosing cholangitis. Increased recognition of coexistent IBD and celiac disease can prompt clinicians to investigate for concomitant disease sooner, particularly in patients with seemingly refractory disease.

Periodontal disease and anemias associated with Crohn's disease. A case report.

Science.gov (United States)

Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L

2012-03-01

Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.

Is the disease course predictable in inflammatory bowel diseases?

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Lakatos, Peter Laszlo; Kiss, Lajos S

2010-01-01

During the course of the disease, most patients with Crohn’s disease (CD) may eventually develop a stricturing or a perforating complication, and a significant number of patients with both CD and ulcerative colitis will undergo surgery. In recent years, research has focused on the determination of factors important in the prediction of disease course in inflammatory bowel diseases to improve stratification of patients, identify individual patient profiles, including clinical, laboratory and molecular markers, which hopefully will allow physicians to choose the most appropriate management in terms of therapy and intensity of follow-up. This review summarizes the available evidence on clinical, endoscopic variables and biomarkers in the prediction of short and long-term outcome in patients with inflammatory bowel diseases. PMID:20518079

Expression of Xylella fastidiosa RpfF in citrus disrupts signaling in Xanthomonas citri subsp. citri and thereby its virulence.

Science.gov (United States)

Caserta, R; Picchi, S C; Takita, M A; Tomaz, J P; Pereira, W E L; Machado, M A; Ionescu, M; Lindow, S; De Souza, A A

2014-11-01

Xylella fastidiosa and Xanthomonas citri subsp. citri, that cause citrus variegated chlorosis (CVC) and citrus canker diseases, respectively, utilize diffusible signal factor (DSF) for quorum sensing. DSF, produced by RpfF, are similar fatty acids in both organisms, although a different set of genes is regulated by DSF in each species. Because of this similarity, Xylella fastidiosa DSF might be recognized and affect the biology of Xanthomonas citri. Therefore, transgenic Citrus sinensis and Carrizo citrange plants overexpressing the Xylella fastidiosa rpfF were inoculated with Xanthomonas citri and changes in symptoms of citrus canker were observed. X. citri biofilms formed only at wound sites on transgenic leaves and were thicker; however, bacteria were unable to break through the tissue and form pustules elsewhere. Although abundant growth of X. citri occurred at wound sites on inoculated transgenic leaves, little growth was observed on unwounded tissue. Genes in the DFS-responsive core in X. citri were downregulated in bacteria isolated from transgenic leaves. DSF-dependent expression of engA was suppressed in cells exposed to xylem sap from transgenic plants. Thus, altered symptom development appears to be due to reduced expression of virulence genes because of the presence of antagonists of DSF signaling in X. citri in rpfF-expressing plants.

Fundus autofluorescence imaging of the white dot syndromes.

Science.gov (United States)

Yeh, Steven; Forooghian, Farzin; Wong, Wai T; Faia, Lisa J; Cukras, Catherine; Lew, Julie C; Wroblewski, Keith; Weichel, Eric D; Meyerle, Catherine B; Sen, Hatice Nida; Chew, Emily Y; Nussenblatt, Robert B

2010-01-01

To characterize the fundus autofluorescence (FAF) findings in patients with white dot syndromes (WDSs). Patients with WDSs underwent ophthalmic examination, fundus photography, fluorescein angiography, and FAF imaging. Patients were categorized as having no, minimal, or predominant foveal hypoautofluorescence. The severity of visual impairment was then correlated with the degree of foveal hypoautofluorescence. Fifty-five eyes of 28 patients with WDSs were evaluated. Visual acuities ranged from 20/12.5 to hand motions. Diagnoses included serpiginous choroidopathy (5 patients), birdshot retinochoroidopathy (10), multifocal choroiditis (8), relentless placoid chorioretinitis (1), presumed tuberculosis-associated serpiginouslike choroidopathy (1), acute posterior multifocal placoid pigment epitheliopathy (1), and acute zonal occult outer retinopathy (2). In active serpiginous choroidopathy, notable hyperautofluorescence in active disease distinguished it from the variegated FAF features of tuberculosis-associated serpiginouslike choroidopathy. The percentage of patients with visual acuity impairment of less than 20/40 differed among eyes with no, minimal, and predominant foveal hypoautofluorescence (P < .001). Patients with predominant foveal hypoautofluorescence demonstrated worse visual acuity than those with minimal or no foveal hypoautofluorescence (both P < .001). Fundus autofluorescence imaging is useful in the evaluation of the WDS. Visual acuity impairment is correlated with foveal hypoautofluorescence. Further studies are needed to evaluate the precise role of FAF imaging in the WDSs.

Quantification of Xylella fastidiosa from Citrus Trees by Real-Time Polymerase Chain Reaction Assay.

Science.gov (United States)

Oliveira, Antonio C; Vallim, Marcelo A; Semighini, Camile P; Araújo, Welington L; Goldman, Gustavo H; Machado, Marcos A

2002-10-01

ABSTRACT Xylella fastidiosa is the causal agent of citrus variegated chlorosis (CVC), a destructive disease of sweet orange cultivars in Brazil. Polymerase chain reaction (PCR)-based assays constitute the principal diagnostic method for detection of these bacteria. In this work, we established a real-time quantitative PCR (QPCR) assay to quantify X. fastidiosa in naturally and artificially infected citrus. The X. fastidiosa cell number detected in the leaves increased according to the age of the leaf, and bacteria were not detected in the upper midrib section in young leaves, indicating temporal and spatial distribution patterns of bacteria, respectively. In addition, the X. fastidiosa cell number quantified in leaves of 'Pera' orange and 'Murcott' tangor reflected the susceptible and resistant status of these citrus cultivars. None of the 12 endophytic citrus bacteria or the four strains of X. fastidiosa nonpathogenic to citrus that were tested showed an increase in the fluorescence signal during QPCR. In contrast, all 10 CVC-causing strains exhibited an increase in fluorescence signal, thus indicating the specificity of this QPCR assay. Our QPCR provides a powerful tool for studies of different aspects of the Xylella-citrus interactions, and can be incorporated into breeding programs in order to select CVC-resistant plants more quickly.

Celiac Disease in Patients with Cystic Fibrosis-Related Bone Disease

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Melissa S. Putman

2017-01-01

Full Text Available Both cystic fibrosis (CF and celiac disease can cause low bone mineral density (BMD and fractures. Celiac disease may occur at a higher frequency in patients with CF than the general population, and symptoms of these conditions may overlap. We report on two patients presenting with CF-related bone disease in the past year who were subsequently found to have concurrent celiac disease. Because adherence to a gluten-free diet may improve BMD in patients with celiac disease, this could have important implications for treatment. Clinicians should consider screening for celiac disease in patients with CF who have low BMD, worsening BMD in the absence of other risk factors, and/or difficult to treat vitamin D deficiency.

Glycogen storage disease type II (Pompe disease in children

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A. N. Semyachkina

2014-01-01

Full Text Available The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease. Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h, described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease. 

[Celiac disease - disease of children and adults: symptoms, disease complications, risk groups and comorbidities].

Science.gov (United States)

Majsiak, Emilia; Cichoż-Lach, Halina; Gubska, Olena; Cukrowska, Bożena

2018-01-23

About 1% of human population suffers from celiac disease (CD) and it is one of the most commonly diagnosed autoimmune disorders. Until recently it was believed that CD affects mainly children, but as the newest studies show, up to 60% recently diagnosed patients are adults, often over the age of 60. CD's medical signs are nonspecific. Atypical course of the disease with extraintestinal symptoms is being increasingly observed. The disease may also be asymptomatic over many years. The studies show that the average diagnosis of CD takes more than 10 years since the first symptoms appear. Nonspecific medical signs cause undiagnosed patients suffering from CD to visit gastroenterologists, endocrinologists, allergists, gynaecologists and other medical specialists. However, most frequently general practitioners have the first encounter with patients suffering from CD, therefore they are able to recognize symptoms of the disease at the earliest and refer the patient to a gastroenterologist. Early diagnosis and beginning of the treatment reduce complications of untreated CD. The aim of this paper is to show general practitioners symptoms, disease complications, risk groups and comorbidities of CD.

Pregnancy and Rheumatic Disease

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... with Rheumatic Disease Pregnancy & Rheumatic Disease Pregnancy and Rheumatic Disease Fast Facts Diseases with the potential to affect ... control. What are the effects of pregnancy on rheumatic disease? The effects of pregnancy on rheumatic diseases vary ...

Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms

Science.gov (United States)

Mistry, Pramod K.; Cappellini, Maria Domenica; Lukina, Elena; Özsan, Hayri; Pascual, Sara Mach; Rosenbaum, Hanna; Solano, Maria Helena; Spigelman, Zachary; Villarrubia, Jesús; Watman, Nora Patricia; Massenkeil, Gero

2010-01-01

Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and non-specific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease. PMID:21080341

Celiac disease

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Radlović Nedeljko

2013-01-01

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

Graves disease with ophthalmopathy following radiotherapy for Hodgkin's disease

International Nuclear Information System (INIS)

Jacobson, D.R.; Fleming, B.J.

1984-01-01

The number of patients achieving long-term survival following neck irradiation for Hodgkin's disease and other malignancies is increasing. Paralleling this increase in survivors is the development of late complications of the therapy itself. Eleven patients have previously been reported who developed Graves ophthalmopathy 18 months to seven years after receiving neck radiotherapy for nonthyroidal malignancies. The seven patients who had HLA typing were all HLA-B8 negative, despite the reported association of the HLA-B8 antigen with Graves disease. A patient who is HLA-B8 positive who developed Graves ophthalmopathy and hyperthyroidism nine years after receiving mantle radiotherapy for Hodgkin's disease is reported. It is recommended that Graves disease be included among the thyroid diseases that receive consideration during follow-up of patients who have received mantle radiotherapy

Prevalence of periodontal disease, its association with systemic diseases and prevention

OpenAIRE

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular di...

Chronic Disease and Childhood Development: Kidney Disease and Transplantation.

Science.gov (United States)

Klein, Susan D.; Simmons, Roberta G.

As part of a larger study of transplantation and chronic disease and the family, 124 children (10-18 years old) who were chronically ill with kidney disease (n=72) or were a year or more post-transplant (n=52) were included in a study focusing on the effects of chronic kidney disease and transplantation on children's psychosocial development. Ss…

Involvement of Gaucher Disease Mutations in Parkinson Disease.

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Vilageliu, Lluisa; Grinberg, Daniel

2017-01-01

Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene. The frequency of Gaucher disease patients and heterozygote carriers that developed Parkinson disease has been found to be above that of the control population. This fact suggests that mutations in the GBA gene can be involved in Parkison's etiology. Analysis of large cohorts of patients with Parkinson disease has shown that there are significantly more cases bearing GBA mutations than those found among healthy individuals. Functional studies have proven an interaction between α-synuclein and GBA, the levels of which presented an inverse correlation. Mutant GBA proteins cause increases in α-synuclein levels, while an inhibition of GBA by α-synuclein has been also demonstrated. Saposin C, a coactivator of GBA, has been shown to protect GBA from this inhibition. Among the GBA variants associated with Parkinson disease, E326K seems to be one of the most prevalent. Interestingly, it is involved in Gaucher disease only when it forms part of a double-mutant allele, usually with the L444P mutation. Structural analyses have revealed that both residues (E326 and L444) interact with Saposin C and, probably, also with α-synuclein. This could explain the antagonistic role of these two proteins in relation to GBA. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Development of Graves' disease following radiation therapy in Hodgkin's disease

International Nuclear Information System (INIS)

Loeffler, J.S.; Tarbell, N.J.; Garber, J.R.; Mauch, P.

1988-01-01

Radiation-related thyroid dysfunction is a common occurrence in patients with Hodgkin's disease treated with mantle field radiation. Although chemical and clinical hypothyroidism are most commonly seen, Graves' disease has also been described. We have examined the records of 437 surgically staged patients who received mantle field irradiation between April 1969 and December 1980 to ascertain the frequency of manifestations of Graves' disease. Within this group, seven patients developed hyperthyroidism accompanied by ophthalmic findings typical of those seen in Graves' disease. The actuarial risk of developing Graves' disease at 10 years following mantle irradiation for Hodgkin's disease was 3.3% in female patients and 1% in male patients in this study. The observed/expected ratios were 5.9 and 5.1 for female and male patients, respectively. This observed risk significantly exceeded that seen in the general population

The acknowledgement of the Schneeberg lung disease as occupational disease in the first decree of occupational diseases from 1925

International Nuclear Information System (INIS)

Schuettmann, W.

1987-01-01

The Schneeberg lung disease is the lung cancer, conditioned by radiation which is caused by the influence of radon and of its subsequent products. It has gained a great importance after World War II as a consequence of the intensified mining of uranium ore. From the history of the disease, lasting some centuries, the period of the twenties and thirties of this century is represented in which on one side the conception of the causal importance of radon has made its way little by little, and on the other side the disease was acknowledged as occupational disease within the first decree of occupational diseases in the former German Reich. Evaluating materials from Saxon archives it is described how the legislative preparations to the acknowledgement of the Schneeberg lung disease as occupational disease and the simultaneous research to the elucidation of nature and cause of the disease have penetrated and influenced each other. (author)

The elusive baseline of marine disease: are diseases in ocean ecosystems increasing?

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Jessica R Ward

2004-04-01

Full Text Available Disease outbreaks alter the structure and function of marine ecosystems, directly affecting vertebrates (mammals, turtles, fish, invertebrates (corals, crustaceans, echinoderms, and plants (seagrasses. Previous studies suggest a recent increase in marine disease. However, lack of baseline data in most communities prevents a direct test of this hypothesis. We developed a proxy to evaluate a prediction of the increasing disease hypothesis: the proportion of scientific publications reporting disease increased in recent decades. This represents, to our knowledge, the first quantitative use of normalized trends in the literature to investigate an ecological hypothesis. We searched a literature database for reports of parasites and disease (hereafter "disease" in nine marine taxonomic groups from 1970 to 2001. Reports, normalized for research effort, increased in turtles, corals, mammals, urchins, and molluscs. No significant trends were detected for seagrasses, decapods, or sharks/rays (though disease occurred in these groups. Counter to the prediction, disease reports decreased in fishes. Formulating effective resource management policy requires understanding the basis and timing of marine disease events. Why disease outbreaks increased in some groups but not in others should be a priority for future investigation. The increase in several groups lends urgency to understanding disease dynamics, particularly since few viable options currently exist to mitigate disease in the oceans.

A cross-sectional survey to study the relationship of periodontal disease with cardiovascular disease, respiratory disease, and diabetes mellitus.

Science.gov (United States)

Oberoi, Sukhvinder Singh; Harish, Yashoda; Hiremath, Shivalingaswamy; Puranik, Manjunath

2016-01-01

Periodontal deterioration has been reported to be associated with systemic diseases such as cardiovascular disease (CVD), diabetes mellitus, respiratory disease, liver cirrhosis, bacterial pneumonia, nutritional deficiencies, and adverse pregnancy outcomes. The present study assessed the periodontal disease among patients with systemic conditions such as diabetes, CVD, and respiratory disease. The study population consisted of 220 patients each of CVD, respiratory disease, and diabetes mellitus, making a total of 660 patients in the systemic disease group. A control group of 340 subjects were also included in the study for comparison purpose. The periodontal status of the patients with these confirmed medical conditions was assessed using the community periodontal index of treatment needs (CPITNs) index. The prevalence of CPITN code 4 was found to be greater among the patients with respiratory disease whereas the mean number of sextants with score 4 was found to be greater among the patients with diabetes mellitus and CVD. The treatment need 0 was found to be more among the controls (1.18%) whereas the treatment need 1, 2, and 3 were more among the patients with respiratory disease (100%, 97.73%, and 54.8%), diabetes mellitus (100%, 100% and 46.4%), and CVD (100%, 97.73%, and 38.1%), in comparison to the controls (6.18%). From the findings of the present study, it can be concluded that diabetes mellitus, CVD, and respiratory disease are associated with a higher severity of periodontal disease.

A cross-sectional survey to study the relationship of periodontal disease with cardiovascular disease, respiratory disease, and diabetes mellitus

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Sukhvinder Singh Oberoi

2016-01-01

Full Text Available Background: Periodontal deterioration has been reported to be associated with systemic diseases such as cardiovascular disease (CVD, diabetes mellitus, respiratory disease, liver cirrhosis, bacterial pneumonia, nutritional deficiencies, and adverse pregnancy outcomes. Aim: The present study assessed the periodontal disease among patients with systemic conditions such as diabetes, CVD, and respiratory disease. Materials and Methods: The study population consisted of 220 patients each of CVD, respiratory disease, and diabetes mellitus, making a total of 660 patients in the systemic disease group. A control group of 340 subjects were also included in the study for comparison purpose. The periodontal status of the patients with these confirmed medical conditions was assessed using the community periodontal index of treatment needs (CPITNs index. Results: The prevalence of CPITN code 4 was found to be greater among the patients with respiratory disease whereas the mean number of sextants with score 4 was found to be greater among the patients with diabetes mellitus and CVD. The treatment need 0 was found to be more among the controls (1.18% whereas the treatment need 1, 2, and 3 were more among the patients with respiratory disease (100%, 97.73%, and 54.8%, diabetes mellitus (100%, 100% and 46.4%, and CVD (100%, 97.73%, and 38.1%, in comparison to the controls (6.18%. Conclusion: From the findings of the present study, it can be concluded that diabetes mellitus, CVD, and respiratory disease are associated with a higher severity of periodontal disease.

The complex biogeography of the plant pathogen Xylella fastidiosa: genetic evidence of introductions and Subspecific introgression in Central America.

Science.gov (United States)

Nunney, Leonard; Ortiz, Beatriz; Russell, Stephanie A; Ruiz Sánchez, Rebeca; Stouthamer, Richard

2014-01-01

The bacterium Xylella fastidiosa is a plant pathogen with a history of economically damaging introductions of subspecies to regions where its other subspecies are native. Genetic evidence is presented demonstrating the introduction of two new taxa into Central America and their introgression into the native subspecies, X. fastidiosa subsp. fastidiosa. The data are from 10 genetic outliers detected by multilocus sequence typing (MLST) of isolates from Costa Rica. Six (five from oleander, one from coffee) defined a new sequence type (ST53) that carried alleles at six of the eight loci sequenced (five of the seven MLST loci) diagnostic of the South American subspecies Xylella fastidiosa subsp. pauca which causes two economically damaging plant diseases, citrus variegated chlorosis and coffee leaf scorch. The two remaining loci of ST53 carried alleles from what appears to be a new South American form of X. fastidiosa. Four isolates, classified as X. fastidiosa subsp. fastidiosa, showed a low level of introgression of non-native DNA. One grapevine isolate showed introgression of an allele from X. fastidiosa subsp. pauca while the other three (from citrus and coffee) showed introgression of an allele with similar ancestry to the alleles of unknown origin in ST53. The presence of X. fastidiosa subsp. pauca in Central America is troubling given its disease potential, and establishes another route for the introduction of this economically damaging subspecies into the US or elsewhere, a threat potentially compounded by the presence of a previously unknown form of X. fastidiosa.

Short-Chain Fatty Acids from Periodontal Pathogens Suppress Histone Deacetylases, EZH2, and SUV39H1 To Promote Kaposi's Sarcoma-Associated Herpesvirus Replication

Science.gov (United States)

Yu, Xiaolan; Shahir, Abdel-Malek; Sha, Jingfeng; Feng, Zhimin; Eapen, Betty; Nithianantham, Stanley; Das, Biswajit; Karn, Jonathan; Weinberg, Aaron; Bissada, Nabil F.

2014-01-01

ABSTRACT Periodontal pathogens such as Porphyromonas gingivalis and Fusobacterium nucleatum produce five different short-chain fatty acids (SCFAs) as metabolic by-products. We detect significantly higher levels of SCFAs in the saliva of patients with severe periodontal disease. The different SCFAs stimulate lytic gene expression of Kaposi's sarcoma-associated herpesvirus (KSHV) dose dependently and synergistically. SCFAs inhibit class-1/2 histone deacetylases (HDACs) and downregulate expression of silent information regulator-1 (SIRT1). SCFAs also downregulate expression of enhancer of zeste homolog2 (EZH2) and suppressor of variegation 3-9 homolog1 (SUV39H1), which are two histone N-lysine methyltransferases (HLMTs). By suppressing the different components of host epigenetic regulatory machinery, SCFAs increase histone acetylation and decrease repressive histone trimethylations to transactivate the viral chromatin. These new findings provide mechanistic support that SCFAs from periodontal pathogens stimulate KSHV replication and infection in the oral cavity and are potential risk factors for development of oral Kaposi's sarcoma (KS). IMPORTANCE About 20% of KS patients develop KS lesions first in the oral cavity, while other patients never develop oral KS. It is not known if the oral microenvironment plays a role in oral KS tumor development. In this work, we demonstrate that a group of metabolic by-products, namely, short-chain fatty acids, from bacteria that cause periodontal disease promote lytic replication of KSHV, the etiological agent associated with KS. These new findings provide mechanistic support that periodontal pathogens create a unique microenvironment in the oral cavity that contributes to KSHV replication and development of oral KS. PMID:24501407

Medications development for substance-use disorders: contextual influences (dis)incentivizing pharmaceutical-industry positioning.

Science.gov (United States)

Janero, David R

2014-11-01

The significant contribution of substance-use disorders (SUDs) to the global-disease burden and associated unmet medical needs has not engendered a commensurate level of pharma-industry research and development (R&D) for novel SUD therapeutics invention. Analysis of contextual factors shaping this position suggests potential routes toward incentivizing R&D commitment for that purpose. This article considers multiple primary factors that have consorted to disincentivize pharma industry's operating in the SUD space: ill-understood pathology; variegated treatments and patient profiles; involved clinical trials; and - with particular reference to SUDs-negative cultural/business stigmas and shallow commercial precedent. Industry incentivization for SUD drug innovation requires progress on several fronts, including: translational experimental data and systems; personalized, holistic SUD treatment approaches; interactions among pharma, nonindustry constituencies, and the medical profession with vested interests in countering negative stereotypes and expanding SUD treatment options; and public-private alliances focused on improving SUD pharmacotherapy. Given the well-entrenched business stance whereby the prospect of future profits in major markets largely determines drug-company R&D investment trajectory, strategic initiatives offering substantial reductions in the risks and opportunity (i.e., time and money) costs associated with SUD drug discovery are likely to be the most potent drivers for encouraging mainstream industry positioning in this therapeutic area. Such initiatives could originate from front-loaded R&D operational and back-loaded patent, regulatory, marketing and health-care policy reforms. These may be too involved and protracted for the turbulent pharmaceutical industry to entertain amid its recent retrenchment from psychiatric/CNS diseases and intense pressures to increase productivity and shareholder value.

The complex biogeography of the plant pathogen Xylella fastidiosa: genetic evidence of introductions and Subspecific introgression in Central America.

Directory of Open Access Journals (Sweden)

Leonard Nunney

Full Text Available The bacterium Xylella fastidiosa is a plant pathogen with a history of economically damaging introductions of subspecies to regions where its other subspecies are native. Genetic evidence is presented demonstrating the introduction of two new taxa into Central America and their introgression into the native subspecies, X. fastidiosa subsp. fastidiosa. The data are from 10 genetic outliers detected by multilocus sequence typing (MLST of isolates from Costa Rica. Six (five from oleander, one from coffee defined a new sequence type (ST53 that carried alleles at six of the eight loci sequenced (five of the seven MLST loci diagnostic of the South American subspecies Xylella fastidiosa subsp. pauca which causes two economically damaging plant diseases, citrus variegated chlorosis and coffee leaf scorch. The two remaining loci of ST53 carried alleles from what appears to be a new South American form of X. fastidiosa. Four isolates, classified as X. fastidiosa subsp. fastidiosa, showed a low level of introgression of non-native DNA. One grapevine isolate showed introgression of an allele from X. fastidiosa subsp. pauca while the other three (from citrus and coffee showed introgression of an allele with similar ancestry to the alleles of unknown origin in ST53. The presence of X. fastidiosa subsp. pauca in Central America is troubling given its disease potential, and establishes another route for the introduction of this economically damaging subspecies into the US or elsewhere, a threat potentially compounded by the presence of a previously unknown form of X. fastidiosa.

The integrated disease network.

Science.gov (United States)

Sun, Kai; Buchan, Natalie; Larminie, Chris; Pržulj, Nataša

2014-11-01

The growing body of transcriptomic, proteomic, metabolomic and genomic data generated from disease states provides a great opportunity to improve our current understanding of the molecular mechanisms driving diseases and shared between diseases. The use of both clinical and molecular phenotypes will lead to better disease understanding and classification. In this study, we set out to gain novel insights into diseases and their relationships by utilising knowledge gained from system-level molecular data. We integrated different types of biological data including genome-wide association studies data, disease-chemical associations, biological pathways and Gene Ontology annotations into an Integrated Disease Network (IDN), a heterogeneous network where nodes are bio-entities and edges between nodes represent their associations. We also introduced a novel disease similarity measure to infer disease-disease associations from the IDN. Our predicted associations were systemically evaluated against the Medical Subject Heading classification and a statistical measure of disease co-occurrence in PubMed. The strong correlation between our predictions and co-occurrence associations indicated the ability of our approach to recover known disease associations. Furthermore, we presented a case study of Crohn's disease. We demonstrated that our approach not only identified well-established connections between Crohn's disease and other diseases, but also revealed new, interesting connections consistent with emerging literature. Our approach also enabled ready access to the knowledge supporting these new connections, making this a powerful approach for exploring connections between diseases.

Concomitant diseases and their effect on disease prognosis in Meniere's disease: diabetes mellitus identified as a negative prognostic factor.

Science.gov (United States)

Pieskä, Teemu; Kotimäki, Jouko; Männikkö, Minna; Sorri, Martti; Hietikko, Elina

2018-01-01

To study comorbidities and their effect on the disease progression in Meniere's disease (MD). Retrospective study on 350 definite MD patients diagnosed according to AAO-HNS 1995 criteria using hospital records and postal questionnaire. The prevalence of migraine, hypothyroidism, allergies, coronary heart disease and autoimmune diseases was more common in MD patients than reported in the general population of Finland. Diabetes mellitus was associated with both more severe hearing impairment (p = .033) and more frequent vertigo (p = .028) in MD patients. The number of concomitant diseases was associated with more frequent vertigo (p = .021). A patient's concomitant diseases, especially diabetes, should be treated effectively because they might affect the progression of MD. Further studies on the effects of concomitant diseases on MD prognosis are needed.

Lamotrigine in the treatment of psychotic depression associated with hereditary coproporphyria -- case report and a brief review of the literature.

Science.gov (United States)

Takács, Rozália; Makkos, Zoltán; Kassai-Farkas, Ákos; Pusztai, Ágnes; Ungvári, Gábor S; Gazdag, Gábor

2014-03-01

We report a successful treatment with lamotrigine of a patient with hereditary coproporphyria presenting with affective and psychotic symptoms. M.F., a 38-year-old, single woman was admitted to an acute psychiatric ward because of suddenly emerging psychosis. Ms F's hereditary coproporphyria was diagnosed 9 years before the current admission. While on treatment with olanzapine (20mg/day) the psychotic symptoms have gradually disappeared. In view of her significant mood fluctuations predominantly with depressed phases, lamotrigine was started and titrated up to 125 mg/day. Ms F's mood gradually became euthymic, suicidal ideations and anxiety disappeared. At 5-month follow-up, while still on lamotrigine, her porphyria was asymptomatic. To the best of our knowledge, this is the first report about the safe administration of lamotrigine in hereditary coproporphyria. Lamotrigine did not trigger an acute porphyric attack as confirmed by clinical and laboratory findings.

Esophageal involvement and interstitial lung disease in mixed connective tissue disease.

Science.gov (United States)

Fagundes, M N; Caleiro, M T C; Navarro-Rodriguez, T; Baldi, B G; Kavakama, J; Salge, J M; Kairalla, R; Carvalho, C R R

2009-06-01

Mixed connective tissue disease is a systemic inflammatory disorder that results in both pulmonary and esophageal manifestations. We sought to evaluate the relationship between esophageal dysfunction and interstitial lung disease in patients with mixed connective tissue disease. We correlated the pulmonary function data and the high-resolution computed tomography findings of interstitial lung disease with the results of esophageal evaluation in manometry, 24-hour intraesophageal pH measurements, and the presence of esophageal dilatation on computed tomography scan. Fifty consecutive patients with mixed connective tissue disease, according to Kasukawa's classification criteria, were included in this prospective study. High-resolution computed tomography parenchymal abnormalities were present in 39 of 50 patients. Esophageal dilatation, gastroesophageal reflux, and esophageal motor impairment were also very prevalent (28 of 50, 18 of 36, and 30 of 36, respectively). The presence of interstitial lung disease on computed tomography was significantly higher among patients with esophageal dilatation (92% vs. 45%; pmotor dysfunction (90% vs. 35%; pesophageal and pulmonary involvement, our series revealed a strong association between esophageal motor dysfunction and interstitial lung disease in patients with mixed connective tissue disease.

[Infectious diseases research].

Science.gov (United States)

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

2008-12-01

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

Human Environmental Disease Network

DEFF Research Database (Denmark)

Taboureau, Olivier; Audouze, Karine

2017-01-01

During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied...... by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information...... and their disease relationships from the reported TDDB database. The resulting human EDN takes into consideration the level of evidence of the toxicant-disease relationships allowing including some degrees of significance in the disease-disease associations. Such network can be used to identify uncharacterized...

Skin diseases: prevalence and predictors of itch and disease severity.

NARCIS (Netherlands)

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General

Responsiveness of Endoscopic Indices of Disease Activity for Crohn's Disease

NARCIS (Netherlands)

Khanna, Reena; Zou, Guangyong; Stitt, Larry; Feagan, Brian G.; Sandborn, William J.; Rutgeerts, Paul; McDonald, John W. D.; Dubcenco, Elena; Fogel, Ronald; Panaccione, Remo; Jairath, Vipul; Nelson, Sigrid; Shackelton, Lisa M.; Huang, Bidan; Zhou, Qian; Robinson, Anne M.; Levesque, Barrett G.; D'Haens, Geert

2017-01-01

The Crohn's Disease Endoscopic Index of Severity (CDEIS) and the Simple Endoscopic Score for Crohn's Disease (SES-CD) are commonly used to assess Crohn's disease (CD) activity; however neither instrument is fully validated. We evaluated the responsiveness to change of the SES-CD and CDEIS using data

AACE/ACE Disease State Clinical Review: Medical Management of Cushing Disease.

Science.gov (United States)

Hamrahian, Amir H; Yuen, Kevin C J; Hoffman, Andrew R

2014-07-01

To review available medical therapies for patients with Cushing disease and to provide a roadmap for their use in clinical practice. PubMed searches were performed to identify all of the available published data on medical management of Cushing disease. Medical therapy is usually not the first-line treatment for patients with Cushing disease but may be used to improve clinical manifestations of Cushing disease in patients who are not suitable candidates for surgery, following unsuccessful surgery or recurrence, or as a "bridge therapy" in those who have undergone radiotherapy. Medical therapy may also be used in preoperative preparation of patients with severe disease. Current available medical options for patients with Cushing disease include centrally acting agents, steroidogenesis inhibitors, and a glucocorticoid receptor antagonists. At present, there are no head-to-head studies comparing the efficacy, tolerability, and safety of different U.S. Food and Drug Administration (FDA)- and non-FDA-approved drugs in patients with Cushing disease. With the initiation of new studies and the completion of ongoing clinical trials, the number of FDA-approved drugs for medical treatment of Cushing disease is expected to increase. Medical therapy has an important adjunctive role in the management of patients with Cushing disease. The decision to initiate medical treatment depends on many factors, including patient characteristics and preference. Long-term studies are needed to better define the clinical efficacy, safety, and tolerability of medical treatment of Cushing disease, including the role of combination therapies.

DOSim: An R package for similarity between diseases based on Disease Ontology

Science.gov (United States)

2011-01-01

Background The construction of the Disease Ontology (DO) has helped promote the investigation of diseases and disease risk factors. DO enables researchers to analyse disease similarity by adopting semantic similarity measures, and has expanded our understanding of the relationships between different diseases and to classify them. Simultaneously, similarities between genes can also be analysed by their associations with similar diseases. As a result, disease heterogeneity is better understood and insights into the molecular pathogenesis of similar diseases have been gained. However, bioinformatics tools that provide easy and straight forward ways to use DO to study disease and gene similarity simultaneously are required. Results We have developed an R-based software package (DOSim) to compute the similarity between diseases and to measure the similarity between human genes in terms of diseases. DOSim incorporates a DO-based enrichment analysis function that can be used to explore the disease feature of an independent gene set. A multilayered enrichment analysis (GO and KEGG annotation) annotation function that helps users explore the biological meaning implied in a newly detected gene module is also part of the DOSim package. We used the disease similarity application to demonstrate the relationship between 128 different DO cancer terms. The hierarchical clustering of these 128 different cancers showed modular characteristics. In another case study, we used the gene similarity application on 361 obesity-related genes. The results revealed the complex pathogenesis of obesity. In addition, the gene module detection and gene module multilayered annotation functions in DOSim when applied on these 361 obesity-related genes helped extend our understanding of the complex pathogenesis of obesity risk phenotypes and the heterogeneity of obesity-related diseases. Conclusions DOSim can be used to detect disease-driven gene modules, and to annotate the modules for functions and

Lyme disease and post-treatment Lyme disease syndrome: the neglected disease in our own backyard.

Science.gov (United States)

Crowder, L A; Yedlin, V A; Weinstein, E R; Kortte, K B; Aucott, J N

2014-09-01

A survey was developed to assess experience and opinions about Lyme disease and post-treatment Lyme disease syndrome (PTLDS) among faculties in public health. No previous surveys of public health faculties have been found in the literature. This is a cross sectional study of public health school faculty members designed to measure knowledge and experience with Lyme disease and PTLDS using an internet survey instrument. Participants were recruited using all the publicly available e-mail addresses of faculty members in all the 50 accredited Schools of Public Health in the United States. A 15% response rate was seen for the survey. 50% of respondents were from Lyme endemic states. Less than 5% of faculty members consider themselves expert in Lyme or PTLDS. Many faculty members had known someone with Lyme disease or PTLDS, but few had been diagnosed themselves. Most believe that PTLDS can be severe and chronic, is not easy to treat, and does not resolve on its own, but were uncertain about its aetiology. Most respondents also felt that the incidence of Lyme disease will increase and that more education is needed. The need for further understanding and communication presents an opportunity for public health research and education in Lyme disease and the sequelae of PTLDS. Copyright © 2014 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

Interaction of lifestyle, behaviour or systemic diseases with dental caries and periodontal diseases

DEFF Research Database (Denmark)

Chapple, Iain L C; Bouchard, Philippe; Cagetti, Maria Grazia

2017-01-01

Periodontal diseases and dental caries are the most common diseases of humans and the main cause of tooth loss. Both diseases can lead to nutritional compromise and negative impacts upon self-esteem and quality of life. As complex chronic diseases, they share common risk factors, such as a requir......Periodontal diseases and dental caries are the most common diseases of humans and the main cause of tooth loss. Both diseases can lead to nutritional compromise and negative impacts upon self-esteem and quality of life. As complex chronic diseases, they share common risk factors...... to periodontal diseases and caries susceptibility, with an attributable risk estimated to be up to 50%. The genetics literature for periodontal disease is more substantial than for caries and genes associated with chronic periodontitis are the vitamin D receptor (VDR), Fc gamma receptor IIA (Fc...... or composition, smoking, carbohydrate intake). Identification of these factors is crucial in the prevention of both diseases as well as in their management. AIM: To systematically appraise the scientific literature to identify potential risk factors for caries and periodontal diseases. METHODS: One systematic...

Parkinson disease - discharge

Science.gov (United States)

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

Pediatric Celiac Disease

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... a protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, ... physician. Established by the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) Celiac Disease Eosinophilic ...

Lyme Disease Data

Science.gov (United States)

... materials Why is CDC concerned about Lyme disease? Data and Statistics Recommend on Facebook Tweet Share Compartir ... sixth most common Nationally Notifiable disease . Lyme Disease Data File To facilitate the public health and research ...

Spreading disease: a controversy concerning the metaphysics of disease.

Science.gov (United States)

D'Amico, R

1998-01-01

This article concerns the metaphysics of disease. Is disease a fixed feature of the world or a social value or preference? I argue that disease is not a value-laden concept and thus debates concerning it differ fundamentally from debates concerning health, harm, or suffering where evaluative judgements are central. I show how the so-called social constructionist view of disease has been motivated both by ethical concerns with medical practices and general theoretical doubts about scientific naturalism. If I can show that ethical concerns about medical treatment can be answered without adopting social constructionism, that leaves only the broader theoretical question of naturalism. I cannot completely answer those theoretical doubts, but I show that the theoretical motivation is less convincing when it is separated from the moral challenge often accompanying it. I conclude that a convincing defense of the non-naturalistic conception of disease is rarely attempted and proves more difficult and counter-intuitive than its proponents assume.

CT findings of diffuse pleural diseases: differentiation of malignant disease from tuberculosis

International Nuclear Information System (INIS)

Roh, In Gye; Kook, Shin Ho; Lee, Young Rae; Chin, Seung Bum; Park, Yoon Ok; Park, Hae Won

1997-01-01

To evaluate whether or not previously known CT criteria for differentiating malignant and benign pleural diseases are useful in the differentiation of diffuse malignant pleural diseases and tuberculosis. We retrospectively analyzed CT scans of 42 patients comprising 20 cases of malignant pleural diseases and 22 cases of tuberculous pleural diseases, according to previously known CT criteria for differentiating malignant and benign pleural diseases. The most common shape of pleural effusion was crescentic in malignant pleural diseases and loculated in tuberculosis. The aggressive nature of pleural effusion, pleural rind, and pleura thickening was 1.5 times more frequently observed in malignant pleural diseases than in tuberculosis. Smooth thickening or smooth nodular pleural thickening and extrapleural deposition of fat were 1.5 times more frequently found in tuberculous than in malignant pleural diseases. Interruption of pleural thickening was found twice as frequently in malignant pleural diseases as in tuberculosis. Decreased lung volume was found twice as frequently in tuberculous as in malignant pleural diseases. Anatomical mediastinal pleural involvement was three times, and irregular nodular pleural thickening nine times more frequent in malignant pleural diseases than in tuberculosis. The sensitivity and specificity of CT findings above 70%, and thus suggesting malignant pleural diseases, were as follows : 1) aggressive nature of pleural fluid collection extending to the azygoesophageal recess or tongue of the lung (51.5%, 75%); 2) involvement of anatomical mediastinal pleura (69.2%, 73.7%); 3) irregular nodular pleural thickening (87.5%, 69%). Although there in overlap between previously known CT criteria for the differentiation of benign and malignant pleural diseases, the aggressive nature of pleural fluid collection extending to the azygoesophageal recess or tongue of the lung, the involvement of anatomical mediastinal pleura and irregular nodular

Hereditary neuromuscular diseases

Energy Technology Data Exchange (ETDEWEB)

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

2001-12-01

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

Disease burden of infectious diseases in Europe: a pilot study

NARCIS (Netherlands)

Lier EA van; Havelaar AH; LZO

2007-01-01

Consequences of different infectious diseases cannot be adequately compared with each other on the basis of the number of patients or mortality data only. It is better to combine all health effects and express the total impact as disease burden, which also takes duration and severity of diseases

Biomarker for Glycogen Storage Diseases

Science.gov (United States)

2017-07-03

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

Degenerative Nerve Diseases

Science.gov (United States)

Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many ... viruses. Sometimes the cause is not known. Degenerative nerve diseases include Alzheimer's disease Amyotrophic lateral sclerosis Friedreich's ...

Understanding cardiovascular disease

Science.gov (United States)

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

Lyme disease (image)

Science.gov (United States)

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

Short-Term and Long-Term Biological Effects of Chronic Chemical Contamination on Natural Populations of a Marine Bivalve.

Directory of Open Access Journals (Sweden)

Marine Breitwieser

Full Text Available Understanding the effects of chronic chemical contamination on natural populations of marine organisms is complex due to the combined effects of different types of pollutants and environmental parameters that can modulate the physiological responses to stress. Here, we present the effects of a chronic contamination in a marine bivalve by combining multiple approaches that provide information on individual and population health. We sampled variegated scallops (Mimachlamys varia at sites characterized by different contaminants and contamination levels to study the short and long-term (intergenerational responses of this species to physiological stress. We used biomarkers (SOD, MDA, GST, laccase, citrate synthase and phosphatases as indicators of oxidative stress, immune system alteration, mitochondrial respiration and general metabolism, and measured population genetic diversity at each site. In parallel, concentration of 14 trace metals and 45 organic contaminants (PAHs, PCBs, pesticides in tissues were measured. Scallops were collected outside and during their reproductive season to investigate temporal variability in contaminant and biomarker levels. Our analyses revealed that the levels of two biomarkers (Laccase-type phenoloxidase and malondialdehyde were significantly correlated with Cd concentration. Additionally, we observed significant seasonal differences for four of the five biomarkers, which is likely due to the scallop reproductive status at time of sampling. As a source of concern, a location that was identified as a reference site on the basis of inorganic contaminant levels presented the same level of some persistent organic pollutants (DDT and its metabolites than more impacted sites. Finally, potential long-term effects of heavy metal contamination were observed for variegated scallops as genetic diversity was depressed in the most polluted sites.

Morphological differentiation of Streptomyces viridochromogenes E-219 on solid culture

International Nuclear Information System (INIS)

Liang Xinle; Zhu Jing; Jin Yingyan

2012-01-01

The Streptomyces viridochromogenes E-219 was derived from Streptomyces viridochromogenes CGMCC4.1119 treated with 60 Co γ-rays irradiation and protoplast fusion. With the help of fluorescent probes, fluorescence microscope and electron microscopy, the morphology and development of E-219 on solid surface culture were investigated in this study. The effect of agarslant culture time on the production of Avilamycin was also studied to provide theoretical basis for industrial fermentation of selecting the appropriate seed to culture on the agarslant culture medium. The results implied that the development of colonies of Streptomyces viridochromogenes accompanied the intermittent hyhae apoptosis, and the production of spores was from the active mycelium. The colonial morphology of strain E-219 was significantly different from the original strain CGMCC4h1119. There were variegated hyphae formation in the stage of spore germination and initial hyphae development (10 h) with the live and dead segments alternated in a highly regular fashion within the same hypha. After the early single colony formation, the third phase was followed by profuse growth of the live segments derived from the variegated hypha, then the second apoptosis of the mycelia (48 h) was occurred with another quick growth, and sporulation was occurred at 96 h. Strain CGMCC4.1119 had spiral sporotrichial and round conidiophores with spike, whereas strain E-219 had linear sporotrichial, smooth and dylindrical conidiophore. The results of shake flask experiments indicated that the spores of E-219 had that highest activity when cultured on agarslant culture medium and incubated for 106 h with the production of avilamycin up to 1200 mg/L. (authors)

Short-Term and Long-Term Biological Effects of Chronic Chemical Contamination on Natural Populations of a Marine Bivalve.

Science.gov (United States)

Breitwieser, Marine; Viricel, Amélia; Graber, Marianne; Murillo, Laurence; Becquet, Vanessa; Churlaud, Carine; Fruitier-Arnaudin, Ingrid; Huet, Valérie; Lacroix, Camille; Pante, Eric; Le Floch, Stéphane; Thomas-Guyon, Hélène

2016-01-01

Understanding the effects of chronic chemical contamination on natural populations of marine organisms is complex due to the combined effects of different types of pollutants and environmental parameters that can modulate the physiological responses to stress. Here, we present the effects of a chronic contamination in a marine bivalve by combining multiple approaches that provide information on individual and population health. We sampled variegated scallops (Mimachlamys varia) at sites characterized by different contaminants and contamination levels to study the short and long-term (intergenerational) responses of this species to physiological stress. We used biomarkers (SOD, MDA, GST, laccase, citrate synthase and phosphatases) as indicators of oxidative stress, immune system alteration, mitochondrial respiration and general metabolism, and measured population genetic diversity at each site. In parallel, concentration of 14 trace metals and 45 organic contaminants (PAHs, PCBs, pesticides) in tissues were measured. Scallops were collected outside and during their reproductive season to investigate temporal variability in contaminant and biomarker levels. Our analyses revealed that the levels of two biomarkers (Laccase-type phenoloxidase and malondialdehyde) were significantly correlated with Cd concentration. Additionally, we observed significant seasonal differences for four of the five biomarkers, which is likely due to the scallop reproductive status at time of sampling. As a source of concern, a location that was identified as a reference site on the basis of inorganic contaminant levels presented the same level of some persistent organic pollutants (DDT and its metabolites) than more impacted sites. Finally, potential long-term effects of heavy metal contamination were observed for variegated scallops as genetic diversity was depressed in the most polluted sites.

Parkinson's Disease Videos

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Full Text Available ... Expert Briefings: Anxiety in Parkinson's Disease Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ... Briefings: What's in the Parkinson's Pipeline? Expert Briefings: Nutrition and Parkinson's Disease 2010 Expert Briefings: Legal Issues: ...

Gene therapy for CNS diseases – Krabbe disease

Directory of Open Access Journals (Sweden)

Mohammad A. Rafi

2016-06-01

Full Text Available This is a brief report of the 19th Annual Meeting of the American Society of Gene and Cell Therapy that took place from May 4th through May 7th, 2016 in Washington, DC, USA. While the meeting provided many symposiums, lectures, and scientific sessions this report mainly focuses on one of the sessions on the "Gene Therapy for central nervous system (CNS Diseases" and specifically on the "Gene Therapy for the globoid cell leukodystrophy or Krabbe disease. Two presentations focused on this subject utilizing two animal models of this disease: mice and dog models. Different serotypes of adeno-associate viral vectors (AAV alone or in combination with bone marrow transplantations were used in these research projects. The Meeting of the ASGCT reflected continuous growth in the fields of gene and cell therapy and brighter forecast for efficient treatment options for variety of human diseases.

Parkinson's Disease Videos

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Full Text Available ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Overview of Parkinson's ... Disease? What Are Some Strategies to Improve the Quality of Community Care for PD Patients? CareMAP: Dealing ...

Parkinson's Disease Videos

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Full Text Available ... Does Caregiving Change from Day to Day? Unconditional Love How Does Parkinson's Disease Affect the Urinary System? ... Mind Guide to Parkinson's Disease Guide to Deep Brain Stimulation Sleep: A Mind Guide to Parkinson’s Disease ...

Parkinson's Disease Videos

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Parkinson's Disease Videos

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Full Text Available ... Tips for Care Partners Nurse Webinars: Nursing Solutions: Innovations in PD Nurse Education CareMAP: Managing Advanced Parkinson's ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis How Is Parkinson's Disease ...

Tay-Sachs Disease

Science.gov (United States)

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

Quiz: Alzheimer's Disease

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... of this page please turn JavaScript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Past Issues / Winter 2015 Table of Contents ... How many Americans over age 65 may have Alzheimer's disease? as many as 5 million as many ...

Tick-borne disease.

Science.gov (United States)

Bratton, Robert L; Corey, Ralph

2005-06-15

Tick-borne diseases in the United States include Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, tularemia, babesiosis, Colorado tick fever, and relapsing fever. It is important for family physicians to consider these illnesses when patients present with influenza-like symptoms. A petechial rash initially affecting the palms and soles of the feet is associated with Rocky Mountain spotted fever, whereas erythema migrans (annular macule with central clearing) is associated with Lyme disease. Various other rashes or skin lesions accompanied by fever and influenza-like illness also may signal the presence of a tick-borne disease. Early, accurate diagnosis allows treatment that may help prevent significant morbidity and possible mortality. Because 24 to 48 hours of attachment to the host are required for infection to occur, early removal can help prevent disease. Treatment with doxycycline or tetracycline is indicated for Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, and relapsing fever. In patients with clinical findings suggestive of tick-borne disease, treatment should not be delayed for laboratory confirmation. If no symptoms follow exposure to tick bites, empiric treatment is not indicated. The same tick may harbor different infectious pathogens and transmit several with one bite. Advising patients about prevention of tick bites, especially in the summer months, may help prevent exposure to dangerous vector-borne diseases.

INTRACRANIAL HYDATID DISEASE: IMAGING FINDINGS OF A RARE DISEASE

Directory of Open Access Journals (Sweden)

idil Gunes Tatar

2014-06-01

Full Text Available Hydatid disease is caused by the larval stage of the parasite Echinococcus granulosus. It is mainly endemic in North African and Mediterranean countries. The disease usually manifests in liver and lungs although involvement of other organs are also seen. In this rare case intracranial hydatid disease in a 9-year-old female patient is presented with Magnetic Resonance Imaging findings. [J Contemp Med 2014; 4(2.000: 103-105

Stargardt Disease

Science.gov (United States)

... Stargardt disease, lipofuscin accumulates abnormally. The Foundation Fighting Blindness supports research studying lipofuscin build up and ways to prevent it. A decrease in color perception also occurs in Stargardt disease. This is ...

Prevalence and overlap of Disease Management Program diseases in older hospitalized patients

DEFF Research Database (Denmark)

Juul-Larsen, Helle Gybel; Petersen, Janne; Sivertsen, Ditte Maria

2017-01-01

Many countries, like Denmark, have tailored Disease Management Programs (DMPs) based on patients having single chronic diseases [defined institutionally as "program diseases" (PDs)], which can complicate treatment for those with multiple chronic diseases. The aims of this study were (a) to assess...... the prevalence and overlap among acutely hospitalized older medical patients of PDs defined by the DMPs, and (b) to examine transitions between different departments during hospitalization and mortality and readmission within two time intervals among patients with the different PDs. We conducted a registry study...... of 4649 acutely hospitalized medical patients ≥65 years admitted to Copenhagen University Hospital, Hvidovre, Denmark, in 2012, and divided patients into six PD groups (type 2 diabetes, chronic obstructive pulmonary disease, cardiovascular disease, musculoskeletal disease, dementia and cancer), each...

Using internet search queries for infectious disease surveillance: screening diseases for suitability.

Science.gov (United States)

Milinovich, Gabriel J; Avril, Simon M R; Clements, Archie C A; Brownstein, John S; Tong, Shilu; Hu, Wenbiao

2014-12-31

Internet-based surveillance systems provide a novel approach to monitoring infectious diseases. Surveillance systems built on internet data are economically, logistically and epidemiologically appealing and have shown significant promise. The potential for these systems has increased with increased internet availability and shifts in health-related information seeking behaviour. This approach to monitoring infectious diseases has, however, only been applied to single or small groups of select diseases. This study aims to systematically investigate the potential for developing surveillance and early warning systems using internet search data, for a wide range of infectious diseases. Official notifications for 64 infectious diseases in Australia were downloaded and correlated with frequencies for 164 internet search terms for the period 2009-13 using Spearman's rank correlations. Time series cross correlations were performed to assess the potential for search terms to be used in construction of early warning systems. Notifications for 17 infectious diseases (26.6%) were found to be significantly correlated with a selected search term. The use of internet metrics as a means of surveillance has not previously been described for 12 (70.6%) of these diseases. The majority of diseases identified were vaccine-preventable, vector-borne or sexually transmissible; cross correlations, however, indicated that vector-borne and vaccine preventable diseases are best suited for development of early warning systems. The findings of this study suggest that internet-based surveillance systems have broader applicability to monitoring infectious diseases than has previously been recognised. Furthermore, internet-based surveillance systems have a potential role in forecasting emerging infectious disease events, especially for vaccine-preventable and vector-borne diseases.

Chronic kidney disease

African Journals Online (AJOL)

disease, together with other related non -communicable diseases. (NCDs), poses not only a threat ... but because if we do not act against NCDs we will also be increasing individual and ... respiratory diseases and cancer. This is in recognition ...

Parkinson's Disease Videos

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Full Text Available ... We Walk at Moving Day CareMAP: Managing Caregiver Stress Aware in Care: Real Stories CareMAP: End-of- ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Overview of Parkinson's Disease ...

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Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... and Parkinson's Disease? Hallucinations and Delusions CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

Parkinson's Disease Videos

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Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Foundation How Is Parkinson's Disease Diagnosed? CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

Parkinson's Disease Videos

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Full Text Available ... Parkinson's Disease: One Voice, Many Listeners Expert Briefings: Medical Therapies: What's in the Parkinson's Pipeline? Expert Briefings: Under-recognized Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ...

Addison′s disease

OpenAIRE

Soumya Brata Sarkar; Subrata Sarkar; Supratim Ghosh; Subhankar Bandyopadhyay

2012-01-01

Addison's disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison's disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening cr...

[Tick-borne diseases].

Science.gov (United States)

Tissot Dupont, H; Raoult, D

1993-05-01

Due to their worldwide distribution, from hottest to coldest climates, and due to their behaviour, ticks are capable of transmitting numerous human and animal bacterial viral or parasitous diseases. Depending on the disease, they play the role of biological vector or intermediate host. In France, six tick borne diseases are of epidemiologic importance. Q fever (not often tick-borne), Mediterranean Spotted Fever, Lyme disease, Turalemia (human and animal), Babesiosis and Tick-borne Viral Encephalitis.

Staphylococcal disease in Africa: another neglected 'tropical' disease

NARCIS (Netherlands)

Herrmann, Mathias; Abdullah, Salim; Alabi, Abraham; Alonso, Pedro; Friedrich, Alexander W.; Fuhr, Günther; Germann, Anja; Kern, Winfried V.; Kremsner, Peter G.; Mandomando, Inacio; Mellmann, Alexander C.; Pluschke, Gerd; Rieg, Siegbert; Ruffing, Ulla; Schaumburg, Frieder; Tanner, Marcel; Peters, Georg; von Briesen, Hagen; von Eiff, Christof; von Müller, Lutz; Grobusch, Martin P.

2013-01-01

The term 'neglected tropical diseases' predominantly refers to single-entity, mostly parasitic diseases. However, a considerable morbidity and mortality burden is carried by patients infected with Gram-positive cocci and Gram-negative bacilli that are prevalent all over the world, yet have impact in

Staphylococcal disease in Africa : another neglected 'tropical' disease

NARCIS (Netherlands)

Herrmann, Mathias; Abdullah, Salim; Alabi, Abraham; Alonso, Pedro; Friedrich, Alexander W.; Fuhr, Guenther; Germann, Anja; Kern, Winfried V.; Kremsner, Peter G.; Mandomando, Inacio; Mellmann, Alexander C.; Pluschke, Gerd; Rieg, Siegbert; Ruffing, Ulla; Schaumburg, Frieder; Tanner, Marcel; von Briesen, Hagen; von Eiff, Christof; von Mueller, Lutz; Grobusch, Martin P.; Peters, Georg

The term 'neglected tropical diseases' predominantly refers to single-entity, mostly parasitic diseases. However, a considerable morbidity and mortality burden is carried by patients infected with Gram-positive cocci and Gram-negative bacilli that are prevalent all over the world, yet have impact in

Addison's disease secondary to connective tissue diseases: a report of six cases.

Science.gov (United States)

Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie

2009-04-01

Addison's disease is an autoimmune process. However, Addison's disease associated with connective tissue diseases (CTD) is only occasionally reported. Here, we report six cases of Addison's disease secondary to a variety of CTD, which include systemic lupus erythematosus, Takayasu arteritis, systemic sclerosis, ankylosing spondylitis (AS) and antiphospholipid antibody syndrome. The association of Addison's disease with Takayasu arteritis and AS is reported for the first time. We also found high prevalence of hypothyroidism as concomitant autoimmune disorder. Our case series highlight the autoimmune features of Addison's disease. Therefore, we suggest considering adrenal dysfunction in patients with CTD.

Liver disease

Science.gov (United States)

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

Heart disease and diet

Science.gov (United States)

Diet - heart disease; CAD - diet; Coronary artery disease - diet; Coronary heart disease - diet ... diet and lifestyle can reduce your risk of: Heart disease, heart attacks, and stroke Conditions that lead ...

Morgellons Disease

OpenAIRE

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

2017-01-01

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

Hirschsprung disease.

Science.gov (United States)

Haricharan, Ramanath N; Georgeson, Keith E

2008-11-01

Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant advances have been made in understanding its etiologies in the last decade, especially with the explosion of molecular genetic techniques and early diagnosis. The surgical management has progressed from a two- or three-stage procedure to a primary operation. More recently, definitive surgery for Hirschsprung disease through minimally invasive techniques has gained popularity. In neonates, the advancement of treatment strategies for Hirschsprung disease continues with reduced patient morbidity and improved outcomes.

Dent's disease

Directory of Open Access Journals (Sweden)

Thakker Rajesh V

2010-10-01

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

DISEASES: text mining and data integration of disease-gene associations.

Science.gov (United States)

Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi; Binder, Janos X; Jensen, Lars Juhl

2015-03-01

Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases. The DISEASES resource is accessible through a web interface at http://diseases.jensenlab.org/, where the text-mining software and all associations are also freely available for download. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Gallstone disease and mortality

DEFF Research Database (Denmark)

Shabanzadeh, Daniel Mønsted; Sørensen, Lars Tue; Jørgensen, Torben

2017-01-01

OBJECTIVES: The objective of this cohort study was to determine whether subjects with gallstone disease identified by screening of a general population had increased overall mortality when compared to gallstone-free participants and to explore causes of death. METHODS: The study population (N...... built. RESULTS: Gallstone disease was present in 10%. Mortality was 46% during median 24.7 years of follow-up with 1% lost. Overall mortality and death from cardiovascular diseases were significantly associated to gallstone disease. Death from unknown causes was significantly associated to gallstone...... disease and death from cancer and gastrointestinal disease was not associated. No differences in mortality for ultrasound-proven gallstones or cholecystectomy were identified. CONCLUSIONS: Gallstone disease is associated with increased overall mortality and to death from cardiovascular disease. Gallstones...

Gaucher Disease

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

Liver Diseases

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

Sandhoff Disease

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... which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease ... which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease ...

Coeliac disease

DEFF Research Database (Denmark)

Reilly, Norelle R; Husby, Steffen; Sanders, David S

2018-01-01

Coeliac disease is increasingly recognized as a global problem in both children and adults. Traditionally, the findings of characteristic changes of villous atrophy and increased intraepithelial lymphocytosis identified in duodenal biopsy samples taken during upper gastrointestinal endoscopy have...... been required for diagnosis. Although biopsies remain advised as necessary for the diagnosis of coeliac disease in adults, European guidelines for children provide a biopsy-sparing diagnostic pathway. This approach has been enabled by the high specificity and sensitivity of serological testing. However......, these guidelines are not universally accepted. In this Perspective, we discuss the pros and cons of a biopsy-avoiding pathway for the diagnosis of coeliac disease, especially in this current era of the call for more biopsies, even from the duodenal bulb, in the diagnosis of coeliac disease. In addition, a contrast...

Quiz: Alzheimer's Disease Quiz | Alzheimer's disease | NIH MedlinePlus the Magazine

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... of this page please turn Javascript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Quiz Past Issues / Fall 2010 Table of ... How many people in the United States have Alzheimer's disease? as many as 5.1 million as ...

Parkinson's Disease Videos

Medline Plus

Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... How Does Parkinson's Disease Affect Memory? CareMAP: Balancing Life and Caregiving CareMAP: La Alimentación y la Deglución, ...

Peptic Ulcer Disease

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... Site ACG Patients Home / Digestive Health Topic / Peptic Ulcer Disease Peptic Ulcer Disease Basics Overview An “ulcer” is an open ... for pain in patients at risk for peptic ulcer disease. Peptic – caused by acid. PPIs – P roton P ump ...

Alzheimer disease

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... likely need to plan for their loved one's future care. The final phase of the disease may ... disease and other dementias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: ...

Celiac disease and other autoimmune diseases in patients with collagenous colitis.

Science.gov (United States)

Vigren, Lina; Tysk, Curt; Ström, Magnus; Kilander, Anders F; Hjortswang, Henrik; Bohr, Johan; Benoni, Cecilia; Larson, Lasse; Sjöberg, Klas

2013-08-01

Collagenous colitis (CC) is associated with autoimmune disorders. The aim of the present study was to investigate the relationship between CC and autoimmune disorders in a Swedish multicenter study. Patients with CC answered questionnaires about demographic data and disease activity. The patient's files were scrutinized for information about autoimmune diseases. A total number of 116 CC patients were included; 92 women, 24 men, median age 62 years (IQR 55-73). In total, 30.2% had one or more autoimmune disorder. Most common were celiac disease (CeD; 12.9%) and autoimmune thyroid disease (ATD, 10.3%), but they also had Sjögren's syndrome (3.4%), diabetes mellitus (1.7%) and conditions in skin and joints (6.0%). Patients with associated autoimmune disease had more often nocturnal stools. The majority of the patients with associated CeD or ATD got these diagnoses before the colitis diagnosis. Autoimmune disorders occurred in one-third of these patients, especially CeD. In classic inflammatory bowel disease (IBD), liver disease is described in contrast to CC where no cases occurred. Instead, CeD was prevalent, a condition not reported in classic IBD. Patients with an associated autoimmune disease had more symptoms. Patients with CC and CeD had an earlier onset of their colitis. The majority of the patients with both CC and CeD were smokers. Associated autoimmune disease should be contemplated in the follow-up of these patients.

Coronary artery disease in patients with cerebrovascular disease: a prospective study

International Nuclear Information System (INIS)

Rokey, R.; Rolak, L.A.; Harati, Y.; Kutka, N.; Verani, M.S.

1984-01-01

Coronary artery disease is the cause of death in most patients who have transient ischemic attacks or stroke. Evaluation for this condition is not routinely performed in such patients, and no prospective studies have been reported. We prospectively examined 50 consecutive patients with transient ischemic attacks or mild stroke to determine the prevalence and importance of coronary artery disease. All patients were examined by a cardiologist and underwent both exercise thallium-201 scintigraphy and exercise radionuclide ventriculography. Sixteen patients were suspected to have coronary artery disease on the basis of clinical evaluation. In 15 of these the was confirmed by the nuclear scans. The remaining 34 patients had no clinical evidence of heart disease, yet 14 had abnormal cardiac scans. Twenty of 22 patients with abnormal scans who underwent cardiac catheterization had significant coronary artery disease or a cardiomyopathy. The discovery of heart disease altered clinical management in 13 patients. Overall, 29 of 50 patients had significant coronary artery disease, compared with a 7% prevalence of the condition in other patients of similar age at the same institution

Datation U_Pb : âge de mise en place du magmatisme bimodal des Jebilet centrales (chaîne Varisque, Maroc). Implications géodynamiquesU_Pb dating: emplacement age of the bimodal magmatism of central Jebilet (Variscan Belt, Morocco). Geodynamic implications

Science.gov (United States)

Essaifi, Abderrahim; Potrel, Alain; Capdevila, Ramon; Lagarde, Jean-Louis

2003-01-01

The bimodal magmatism of central Jebilet is dated to 330.5 +0.68-0.83 Ma by UPb dating on zircons. This age, similar to that of the syntectonic Jebilet cordierite-bearing granitoids, corresponds to the age of the local major tectonometamorphic event. The syntectonic plutonism of the Jebilet massif, composed of tholeiitic, alkaline, and peraluminous calc-alkaline series, is variegated. Magmas emplacement was favoured by the local extension induced by the motion along the western boundary of the Carboniferous basins of the Moroccan Meseta. The Jebilet massif exemplifies the activation of various magmas sources during an episode of continental convergence and crustal wrenching.

Constructing Confucius in the Low Countries

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Trude Dijkstra

2017-02-01

Full Text Available The first translation of Confucius’s Analects into a European language was a Dutch book by Pieter van Hoorn. Printed in Batavia in 1675, it predated the better-known Latin translation, Confucius Sinarum Philosophus (1687. Whereas the introduction of Confucius in the West has often been regarded as a project of the Jesuit mission, an exploration of the Netherlandish situation points out that the ‘manufacturing’ of Confucianism was a variegated and multi-confessional affair. The process of transmitting, translating, publishing, explaining, and judging Confucius presented a challenge to Europeans from different backgrounds and allegiances, integrating not only Latin and vernacular scholarship but also Asian expertise.

Toward an African-Christian Demonology: The Demonologies of African Traditional Religion, African Christianity, and Early Christianity in Dialogue

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Moscicke, Hans

2017-11-01

Full Text Available Christian interactions with the spirit-world of African traditional religion (ATR have remained problematic due, in part, to the failure of Christian missionaries to understand in detail the cosmology of ATR and the angelologies and demonologies of early Christianity. In this article I suggest a way beyond this impasse. I first survey the shape of cosmology and demonology in ATR, and then examine African Christianitys variegated responses to these traditional beliefs. Finally, I submit that a retrieval of the early Christian mythological narrative about demons and its associated cosmology could help theologians accommodate the spirit-world of ATR within a truly African-Christian theology.

Anisian and Ladinian Beds in the Cross-Section above Srednik Valley at Križna Gora,Central Slovenia

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Matevž Demšar

2003-06-01

Full Text Available The Križna Gora and wider surroundings are built of the Paleozoic and Mesozoic rocks. Pretty extended among them are the carbonate Anisian and heterogeneously developed variegated Ladinian rocks wedging out laterally and vertically already at short distances as a result of active volcanism, tectonics and the fact that this region is situated on the margin between the Dinaric Carbonate Platform and the Slovenian Basin. The Ladinian rocks lie discordantly upon the Anisian dolomite. In the Ladinian sediments pelecypods Daonella lommeli (Wissmann are rather extended. The Ladinian beds are overlain by theCordevolian dolomite. The boundary between them in the Srednik Valley is strongly tektonized.

Phytochemical and Biological investigations of Erythrina Variegata

International Nuclear Information System (INIS)

Rahman, Mohammad Z.; Sultana, Shirin J.; Islam, Mohammad S.; Faruquee, Chowdhury F.; Ferdous, F.; Rahman, Mohammad S.; Rashid, Mohammad A.

2007-01-01

Five compounds were isolated from the n-hexane and chloroform soluble fractions of a methanol extract of the stem bark of Erythrina variegate. The structure of the isolated compounds were elucidated as alpinum isoflavone (1), epilupeol (2), 6-hydroxygenestein (3) 3-beta, 28-dihydroxylolean-12-ene (4) and stigmasterol (5) by extensive spectroscopic studies including high field NMR analyses. Different partitionates of the methanol extract exhibited mild to moderate antimicrobial activity and varying degrees of cytotoxicity. Although, alpinum isoflavone (1) has previously been reported from E. Variegata, this is the first report of isolation of compounds 2-4 and stigmasterol from this plant species. (author)

Reconstructing Historical Light Curves of Symbiotic Stars and Novae

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Jurdana-Šepić R.

2012-06-01

Full Text Available We reconstructed photometric histories of symbiotic stars and novae from direct inspection and measurement of photographic plates preserved at historical archives. We have completed the digging of the rich Asiago archive, and have started working on the Harvard plate stack, while other plate collections should be added soon. For homogeneity, we use the same UBV RCIC photometric comparison sequences used in current CCD observations. This data harvest has permitted the discovery of past undetected outbursts and secular trends, or to derive previously unknown orbital periods and recurrence times, which are essential to constrain the nature of these capricious and variegated active binaries.

Genetics and Rheumatic Disease

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

What Is Celiac Disease?

Science.gov (United States)

... Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis and Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten-Free Spring 2015 Issue: Volume 10 ...

Celiac Disease Changes Everything

Science.gov (United States)

... Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis and Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten-Free Spring 2015 Issue: Volume 10 ...

Heart disease - risk factors

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

Addison Disease

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

Lyme Disease

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... spread to the nervous system, causing facial paralysis ( Bell's palsy ), or meningitis. The last stage of Lyme disease ... My Lyme Disease Risk? Bug Bites and Stings Bell's Palsy Rocky Mountain Spotted Fever Meningitis View more About ...

Refsum Disease

Science.gov (United States)

... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ...

Epigenetics of kidney disease.

Science.gov (United States)

Wanner, Nicola; Bechtel-Walz, Wibke

2017-07-01

DNA methylation and histone modifications determine renal programming and the development and progression of renal disease. The identification of the way in which the renal cell epigenome is altered by environmental modifiers driving the onset and progression of renal diseases has extended our understanding of the pathophysiology of kidney disease progression. In this review, we focus on current knowledge concerning the implications of epigenetic modifications during renal disease from early development to chronic kidney disease progression including renal fibrosis, diabetic nephropathy and the translational potential of identifying new biomarkers and treatments for the prevention and therapy of chronic kidney disease and end-stage kidney disease.

Management of adynamic bone disease in chronic kidney disease: A brief review

Directory of Open Access Journals (Sweden)

Swathi K. Sista

2016-09-01

Full Text Available The Kidney Disease: Improving Global Outcomes (KDIGO work group released recommendations in 2006 to define the bone-related pathology associated with chronic kidney disease as renal osteodystrophy. In 2009, KDIGO released revised clinical practice guidelines which redefined systemic disorders of bone and mineral metabolism due to chronic kidney disease as chronic kidney disease-mineral and bone disorders. Conditions under this overarching term include osteitis fibrosa cystica, osteomalacia, and adynamic bone disease. We aim to provide a brief review of the histopathology, pathophysiology, epidemiology, and diagnostic features of adynamic bone disease, focusing on current trends in the management of this complex bone disorder.

Parkinson's Disease Videos

Science.gov (United States)

... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping Skills for ... Caregivers: Caremap and Caring & Coping CareMAP: Movement and Falls: Part ... There Any Ways to Control the Rate of Progression of the Disease? CareMAP: ...

Immunoglobulin G4-related disease: a rare disease with an unusual presentation.

Science.gov (United States)

Khan, Muhammad Waqas; Hadley, Terrance; Kesler, Melissa; Gul, Zartash

2016-07-01

IgG4-RD can also present in the skeletal muscle, mimicking several other diseases. It is unusual for this relatively new classification of diseases to present in the muscles and can be mistakenly diagnosed as other autoimmune diseases rendering a delay in the appropriate management and progression of the disease.

Kidney Disease

Science.gov (United States)

... Staying Safe Videos for Educators Search English Español Kidney Disease KidsHealth / For Teens / Kidney Disease What's in ... Coping With Kidney Conditions Print What Do the Kidneys Do? You might never think much about some ...

Undifferentiated Connective Tissue Disease

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

American Lyme Disease Foundation

Science.gov (United States)

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

Inflammation and Heart Disease

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... Disease Venous Thromboembolism Aortic Aneurysm More Inflammation and Heart Disease Updated:Jun 13,2017 Understand the risks of ... inflammation causes cardiovascular disease, inflammation is common for heart disease and stroke patients and is thought to be ...

Parkinson's Disease Videos

Medline Plus

Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping Skills for ... Caregivers: Caremap and Caring & Coping CareMAP: Movement and Falls: Part ... There Any Ways to Control the Rate of Progression of the Disease? CareMAP: ...

Sexual transmission of Lyme disease: challenging the tickborne disease paradigm.

Science.gov (United States)

Stricker, Raphael B; Middelveen, Marianne J

2015-01-01

Lyme disease caused by the spirochete Borrelia burgdorferi has become a major worldwide epidemic. In this article, we explore the clinical, epidemiological and experimental evidence for sexual transmission of Lyme disease in animal models and humans. Although the likelihood of sexual transmission of the Lyme spirochete remains speculative, the possibility of Lyme disease transmission via intimate human contact merits further study.

Hodgkin's disease part 1: pathology, staging, and management of early stage disease

International Nuclear Information System (INIS)

Mauch, Peter; Yahalom, Joachim

1995-01-01

Over the past 25 years there have been dramatic improvements in our understanding of the epidemiology, biology, natural history, and treatment of Hodgkins disease. Hodgkin's disease is one of the few cancers where both chemotherapy and radiation therapy have provided dramatic improvements in cure of this once uniformly fatal disease. Part 1 of the refresher course on Hodgkin's disease will include a review of: 1) New Findings in epidemiology, immunohistochemistry and molecular biology of the Reed-Sternberg cell including association with Epstein-Barr virus; 2) Review of pathology including discussions of NS 1 vs NS2, and nodular LP subclassifications; 3) Recommendations for staging including the role of staging laparotomy in Hodgkin's disease; 4) Standard techniques for commonly used radiation therapy fields for Hodgkin's disease and 5) Treatment of early stage Hodgkin's disease including an overview on recent and current clinical trials

Heart disease and women

Science.gov (United States)

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

Men and Heart Disease

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

Digestive Diseases

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... Lactose Intolerance Liver Disease Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the Bowel Pancreatitis Peptic Ulcers (Stomach ... and outreach materials. Clinical Trials Clinical trials offer hope for many people and opportunities to help researchers ...

Viral Disease Networks?

Science.gov (United States)

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

2010-03-01

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

Coeliac disease and epilepsy.

LENUS (Irish Health Repository)

Cronin, C C

2012-02-03

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

National disease management plans for key chronic non-communicable diseases in Singapore.

Science.gov (United States)

Tan, C C

2002-07-01

In Singapore, chronic, non-communicable diseases, namely coronary heart disease, stroke and cancer, account for more than 60% of all deaths and a high burden of disability and healthcare expenditure. The burden of these diseases is likely to rise with our rapidly ageing population and changing lifestyles, and will present profound challenges to our healthcare delivery and financing systems over the next 20 to 30 years. The containment and optimal management of these conditions require a strong emphasis on patient education and the development of integrated models of healthcare delivery in place of the present uncoordinated, compartmentalised way of delivering healthcare. To meet these challenges, the Ministry of Health's major thrusts are disease control measures which focus mainly on primary prevention; and disease management, which coordinates the national effort to reduce the incidence of these key diseases and their predisposing factors and to ameliorate their long-term impact by optimising control to reduce mortality, morbidity and complications, and improving functional status through rehabilitation. The key initiatives include restructuring of the public sector healthcare institutions into two clusters, each comprising a network of primary health care polyclinics, regional hospitals and tertiary institutions. The functional integration of these healthcare elements within each cluster under a common senior administrative and professional management, and the development of common clinical IT systems will greatly facilitate the implementation of disease management programmes. Secondly, the Ministry is establishing National Disease Registries in coronary heart disease, cancer, stroke, myopia and kidney failure, which will be valuable sources of clinical and outcomes data. Thirdly, in partnership with expert groups, national committees and professional agencies, the Ministry will produce clinical practice guidelines which will assist doctors and healthcare

Pediatric Inflammatory Bowel Diseases

DEFF Research Database (Denmark)

Lauritzen, Didde; Andreassen, Bente Utoft; Heegaard, Niels Henrik H

2018-01-01

Background: Kidney disease has been reported in adults with inflammatory bowel disease (IBD) and is regarded an extraintestinal manifestation or more rarely a side effect of the medical treatment. Methods: In this cross-sectional study we describe the extent of kidney pathology in a cohort of 56...... children with IBD. Blood and urine samples were analyzed for markers of kidney disease and ultrasonography was performed to evaluate pole-to-pole kidney length. Results: We found that 25% of the patients had either previously reported kidney disease or ultrasonographic signs of chronic kidney disease...... are at risk of chronic kidney disease, and the risk seems to be increased with the severity of the disease....

Norries disease

Directory of Open Access Journals (Sweden)

Saini J

1992-01-01

Full Text Available A 2-month-old male infant was found to have Norrie′s disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie′s disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.

Menkes Disease

Science.gov (United States)

... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Menkes disease is caused by a defective gene named ATPTA ... arteries. Weakened bones (osteoporosis) may result in fractures. × Definition Menkes disease is caused by a defective gene named ATPTA ...

Fabry Disease

Science.gov (United States)

... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Fabry disease is caused by the lack of or faulty ... severe symptoms similar to males with the disorder. × Definition Fabry disease is caused by the lack of or faulty ...

Fifth disease

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

Gastro-esophageal reflux disease and exacerbations in chronic obstructive pulmonary disease.

Science.gov (United States)

Ingebrigtsen, Truls S; Marott, Jacob L; Vestbo, Jørgen; Nordestgaard, Børge G; Hallas, Jesper; Lange, Peter

2015-01-01

We tested the hypothesis that gastro-esophageal reflux disease is a risk factor for exacerbations in individuals with chronic obstructive pulmonary disease (COPD). Among 9622 participants in the Copenhagen City Heart Study, we identified 1259 individuals with COPD and information on gastro-esophageal reflux disease and the regular use of acid inhibitory treatment. These individuals were followed for 5 years with regard to medically treated COPD exacerbations, which we defined as a short course treatment with oral corticosteroids alone or in combination with antibiotics. We applied a multivariable Cox regression analysis with adjustment for well-established risk factors associated with COPD exacerbations or gastro-esophageal reflux disease, including COPD severity, and symptoms. Individuals with COPD and gastro-esophageal reflux disease had more chronic bronchitis (31 vs 21%, P = 0.004), more breathlessness (39 vs 22%, P gastro-esophageal reflux disease. Among individuals with COPD and gastro-esophageal reflux disease, those who did not use acid inhibitory treatment regularly had an increased risk of COPD exacerbations during follow-up, hazards ratio (HR): HR = 2.7 (1.3-5.4, P = 0.006). Individuals with gastro-esophageal reflux disease, using acid inhibitory treatment regularly did not have an increased risk of exacerbations, HR = 1.2 (0.6-2.7, P = 0.63). Gastro-esophageal reflux disease was associated with an increased risk of medically treated exacerbations of COPD, but only in those individuals who did not use acid inhibitory treatment regularly. © 2014 Asian Pacific Society of Respirology.

Multi-disease data management system platform for vector-borne diseases.

Directory of Open Access Journals (Sweden)

Lars Eisen

2011-03-01

Full Text Available Emerging information technologies present new opportunities to reduce the burden of malaria, dengue and other infectious diseases. For example, use of a data management system software package can help disease control programs to better manage and analyze their data, and thus enhances their ability to carry out continuous surveillance, monitor interventions and evaluate control program performance.We describe a novel multi-disease data management system platform (hereinafter referred to as the system with current capacity for dengue and malaria that supports data entry, storage and query. It also allows for production of maps and both standardized and customized reports. The system is comprised exclusively of software components that can be distributed without the user incurring licensing costs. It was designed to maximize the ability of the user to adapt the system to local conditions without involvement of software developers. Key points of system adaptability include 1 customizable functionality content by disease, 2 configurable roles and permissions, 3 customizable user interfaces and display labels and 4 configurable information trees including a geographical entity tree and a term tree. The system includes significant portions of functionality that is entirely or in large part re-used across diseases, which provides an economy of scope as new diseases downstream are added to the system at decreased cost.We have developed a system with great potential for aiding disease control programs in their task to reduce the burden of dengue and malaria, including the implementation of integrated vector management programs. Next steps include evaluations of operational implementations of the current system with capacity for dengue and malaria, and the inclusion in the system platform of other important vector-borne diseases.

Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease

DEFF Research Database (Denmark)

Dale, Maria; Maltby, John; Shimozaki, Steve

2016-01-01

OBJECTIVE: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington......'s disease. However, among certain medical populations, evidence of sex differences in mood across various disease stages has been found, reflecting trends among the general population that women tend to experience anxiety and depression 1.5 to 2 times more than men. The current study examined whether...... disease stage and sex, either separately or as an interaction term, predicted anxiety and depression in Huntington's disease. METHODS: A cross-sectional study of REGISTRY data involving 453 Huntington's disease participants from 12 European countries was undertaken using the Hospital Anxiety...

Parkinson's disease and Alzheimer's disease: hypersensitivity to X-rays in cultured cell lines

Energy Technology Data Exchange (ETDEWEB)

Robbins, J H; Otsuka, Fujio; Tarone, R E; Polinsky, R J; Nee, L E; Brumback, R A

1985-09-01

Fibroblast and/or lymphoblastoid lines from patients with several inherited primary neuronal degenerations are hypersensitive to DNA-damaging agents. Therefore, lymphoblastoid lines were irradiated from patients with sporadic Parkinson's disease (PD), Alzheimer's disease, and amyotrophic lateral sclerosis. The mean survival values of the eight Parkinson's disease and of the six Alzheimer's disease lines, but not of the five amyotrophic lateral sclerosis lines, were less than that of the 28 normal lines. Our results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage. Such a DNA repair defect could cause an abnormal accumulation of spontaneously occurring DNA damage in Parkinson's disease and Alzheimer's disease neurons in vivo, resulting in their premature death.

Parkinson's disease and Alzheimer's disease: hypersensitivity to X-rays in cultured cell lines

International Nuclear Information System (INIS)

Robbins, J.H.; Otsuka, Fujio; Tarone, R.E.; Polinsky, R.J.; Nee, L.E.; Brumback, R.A.

1985-01-01

Fibroblast and/or lymphoblastoid lines from patients with several inherited primary neuronal degenerations are hypersensitive to DNA-damaging agents. Therefore, lymphoblastoid lines were irradiated from patients with sporadic Parkinson's disease (PD), Alzheimer's disease, and amyotrophic lateral sclerosis. The mean survival values of the eight Parkinson's disease and of the six Alzheimer's disease lines, but not of the five amyotrophic lateral sclerosis lines, were less than that of the 28 normal lines. Our results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage. Such a DNA repair defect could cause an abnormal accumulation of spontaneously occurring DNA damage in Parkinson's disease and Alzheimer's disease neurons in vivo, resulting in their premature death. (author)

HIV and Cardiovascular Disease

Science.gov (United States)

... Select a Language: Fact Sheet 652 HIV and Cardiovascular Disease HIV AND CARDIOVASCULAR DISEASE WHY SHOULD PEOPLE WITH HIV CARE ABOUT CVD? ... OF CVD? WHAT ABOUT CHANGING MEDICATIONS? HIV AND CARDIOVASCULAR DISEASE Cardiovascular disease (CVD) includes a group of problems ...

Diabetes and Celiac Disease

Science.gov (United States)

... some in the family will have celiac disease. • Symptoms of celiac disease vary widely, but are often absent in persons ... Abnormal labs XX Diabetes and Celiac Disease | continued CELIAC DISEASE Classic symptoms... Gas, bloating, diarrhea, constipation, vomiting, weight loss, anemia. ...

Poorly Responsive Celiac Disease

Science.gov (United States)

... Close Celiac Disease Understanding Celiac Disease What is Celiac Disease? Symptoms Screening and Diagnosis Treatment and Follow-Up Dermatitis ... Schuppan D, Kelly CP. Etiologies and predictors of diagnosis in nonresponsive celiac disease. Clin Gastroenterol Hepatol 2007; 5 : 445–50. Finding ...

Early Disseminated Lyme Disease with Carditis Complicated by Posttreatment Lyme Disease Syndrome

OpenAIRE

Novak, Cheryl; Harrison, Andrew; Aucott, John

2017-01-01

Lyme disease is an infectious disease caused by the bacterium Borrelia burgdorferi. When untreated, infection may spread to the heart, nervous system, and joints. Cardiac involvement usually manifests as abnormalities of the conduction system and bradycardia. Treatment of Lyme disease is generally effective, with a subset of patients experiencing persistent, sometimes long-term symptoms called posttreatment Lyme disease syndrome.

Autoimmune disease and risk for Parkinson disease A population-based case-control study

DEFF Research Database (Denmark)

Rugbjerg, K.; Friis, S.; Ritz, B.

2009-01-01

Objective: Inflammatory mediators are increased in autoimmune diseases and may activate microglia and might cause an inflammatory state and degeneration of dopaminergic neurons in the brain. Thus, we evaluated whether having an autoimmune disease increases the risk for developing Parkinson disease...... do not support the hypothesis that autoimmune diseases increase the risk for Parkinson disease. The decreased risk observed among patients with rheumatoid arthritis might be explained by underdiagnosis of movement disorders such as Parkinson disease in this patient group or by a protective effect...

diseases free body

OpenAIRE

thararose

2018-01-01

Diseases are very common now a days . It is our food habits itself that causes this diseases. Diseases can cause many health problems. goiter causes and symptoms It is very important to follow healthy food habits and to maintain good health. A healthy body is always a treasure to every person.

Emerging zoonotic viral diseases.

Science.gov (United States)

Wang, L-F; Crameri, G

2014-08-01

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

Clinical outcome of Crohn's disease according to the Vienna classification: disease location is a useful predictor of disease course

NARCIS (Netherlands)

Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

2006-01-01

OBJECTIVES: Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim

Clinical outcome of Crohn's disease according to the Vienna classification : disease location is a useful predictor of disease course

NARCIS (Netherlands)

Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

Objectives Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011

NARCIS (Netherlands)

van Lier, Alies; McDonald, Scott A; Bouwknegt, Martijn; Kretzschmar, Mirjam E; Havelaar, Arie H; Mangen, Marie-Josée J; Wallinga, Jacco; de Melker, Hester E

2016-01-01

BACKGROUND: Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first

Pregnancy and periodontal disease

OpenAIRE

Sağlam, Ebru; Saruhan, Nesrin; Çanakçı, Cenk Fatih

2015-01-01

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

STRESS AS PREDISPOSING FACTOR OF SOME CHRONIC DISEASES INCLUDING PERIODONTAL DISEASE

Directory of Open Access Journals (Sweden)

Dewi-Nurul M Dewi-Nurul

2006-04-01

Full Text Available Stress is hypothesized as a common pathway for several related chronic diseases of man. Psychosocial stress as modified by perceptions and coping by patients can lead to physical processes. Psychoneuroimmunologic (PNI studies have suggested that psychosocial stress can alter immune function and increase vulnerability to illnesses. The patients also have high sensitivity to periodontal disease (PD. This article describes the association of stress as a physiological response to diseases such as PD, rheumatoid arthritis (RA, and inflammatory bowel disease. The psychosocial stress can lead to physiological processes through 1 the hypothalamic-pituitary-adrenal (HPA axis leading to glucocortico-steroid secretion; 2 the autonomic nervous system, resulting in the release of catecholamine; or 3 the hypothalamic-pituitary-gonadal axis, resulting in the release of sex hormones. These processes may affect chronic diseases. It can be concluded that psychosocial stress in periodontal disease patients must be considered and social support must be provided in order to achieve an optimum periodontal therapy result.

Association between periodontal disease and cardiovascular disease

International Nuclear Information System (INIS)

Rehman, M.M.; Salama, R.P.

2004-01-01

Studies have supported the notion that subjects with periodontitis and patients with multiple tooth extractions as a result of chronic advanced periodontal disease (PDD) have a greater risk of developing Cardiovascular disease (CVD) than those who had little or no periodontal infection. Periodontitis may predispose affected patients to CVD by elevating systemic C-reactive protein level and pro-inflammatory activity in atherosclerotic lesions and accelerate development of cardiovascular diseases, Oral health variables including loss of teeth, positive plaque Benzoyl-D-L-Arginine- Naphthyl Amide test (BANA) scores, and compliant of xerostomia may by considered as risk indicators for CVD. Exact mechanism which links PDD and CVD has not been firmly established. The link between PDD and CVD may be attributed to bacteria entering blood stream and attaching to the fatty plaque in coronary artery and contributing to clot formation which can lead to heart attack. Inflammation caused by PDD increases the plaque build up. The association between the two disease entities is cause for concern. However, dental and medical practitioners should be aware of these findings to move intelligently to interact with inquiring patients with periodontitis. They should be urged to maintain medical surveillance of their cardiovascular status, and work on controlling or reducing all known risk factors associated with CVD, including periodontal infection. (author)

Association between periodontal disease and cardiovascular disease

Energy Technology Data Exchange (ETDEWEB)

Rehman, M M; Salama, R P [Ajman Univ. of Science and Technology Network, Abu-Dhabi Campus (United Arab Emirates)

2004-06-01

Studies have supported the notion that subjects with periodontitis and patients with multiple tooth extractions as a result of chronic advanced periodontal disease (PDD) have a greater risk of developing Cardiovascular disease (CVD) than those who had little or no periodontal infection. Periodontitis may predispose affected patients to CVD by elevating systemic C-reactive protein level and pro-inflammatory activity in atherosclerotic lesions and accelerate development of cardiovascular diseases, Oral health variables including loss of teeth, positive plaque Benzoyl-D-L-Arginine- Naphthyl Amide test (BANA) scores, and compliant of xerostomia may by considered as risk indicators for CVD. Exact mechanism which links PDD and CVD has not been firmly established. The link between PDD and CVD may be attributed to bacteria entering blood stream and attaching to the fatty plaque in coronary artery and contributing to clot formation which can lead to heart attack. Inflammation caused by PDD increases the plaque build up. The association between the two disease entities is cause for concern. However, dental and medical practitioners should be aware of these findings to move intelligently to interact with inquiring patients with periodontitis. They should be urged to maintain medical surveillance of their cardiovascular status, and work on controlling or reducing all known risk factors associated with CVD, including periodontal infection. (author)

Celiac disease in Iran

Directory of Open Access Journals (Sweden)

Malekzadeh R

2007-06-01

Full Text Available Background: Until a few decades ago, celiac disease was considered to be essentially a disease of European people and to be very rare in Middle Eastern countries. During the last two decades, having met the criteria for the WHO general screening, the advent and application of novel serological assays used to screen for celiac disease and the use of endoscopic small bowel biopsy have led to increasing numbers of diagnoses of celiac disease in western countries. With this new data, our knowledge on both the clinical pattern and epidemiology of celiac disease has increased, and is now known to be a relatively common autoimmune disorder. Studies performed in different parts of the developing world have shown that the prevalence of celiac disease in this area is similar to or even higher than that in western countries. In fact, celiac disease is known to be the most common form of chronic diarrhea in Iran. However, contrary to common belief, celiac disease is more than a pure digestive alteration. It is a protean systemic disease, and, with a 95 percent genetic predisposition, has a myriad of symptoms including gastrointestinal, dermatological, dental, neurological and behavioral that can occur at a variety of ages. Monosymptomatic, oligosymptomatic, atypical (without gastrointestinal symptoms, silent and latent forms of celiac disease have been identified. In this study we review the epidemiology of celiac disease based on the studies performed in Iran and discuss its pathogenesis, the role of antibodies in the diagnosis of celiac disease and the importance of its diagnosis and treatment in Iran.

The link between chronic kidney disease and cardiovascular disease.

Science.gov (United States)

Said, Sarmad; Hernandez, German T

2014-07-01

It is well known that patients with chronic kidney disease (CKD) have a strong risk of cardiovascular disease (CVD). However, the excess risk of cardiovascular disease in patients with CKD is only partially explained by the presence of traditional risk factors, such as hypertension and diabetes mellitus. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed, EBSCO and Web of Science has been searched. Chronic kidney disease even in its early stages can cause hypertension and potentiate the risk for cardiovascular disease. However, the practice of intensive blood pressure lowering was criticized in recent systematic reviews. Available evidence is inconclusive but does not prove that a blood pressure target of less than 130/80 mmHg as recommended in the guidelines improves clinical outcomes more than a target of less than 140/90 mmHg in adults with CKD. The association between CKD and CVD has been extensively documented in the literature. Both CKD and CVD share common traditional risk factors, such as smoking, obesity, hypertension, diabetes mellitus, and dyslipidemia. However, cardiovascular disease remains often underdiagnosed und undertreated in patients with CKD. It is imperative that as clinicians, we recognize that patients with CKD are a group at high risk for developing CVD and cardiovascular events. Additional studies devoted to further understand the risk factors for CVD in patients with CKD are necessary to develop and institute preventative and treatment strategies to reduce the high morbidity and mortality in patients with CKD.

Leigh's Disease

Science.gov (United States)

... X-linked form of Leigh’s disease, a high-fat, low-carbohydrate diet may be recommended. View Full Treatment Information Definition Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ...

Parasitic diseases

International Nuclear Information System (INIS)

Rozenshtraukh, L.S.

1983-01-01

Foundations of roentgenological semiotics of parasitic diseases of lungs, w hich are of the greatest practical value, are presented. Roentgenological pictu res of the following parasitic diseases: hydatid and alveolar echinococcosis, pa ragonimiasis, toxoplasmosis, ascariasis, amebiasis, bilharziasis (Schistosomias is) of lungs, are considered

Menopause and Rheumatic Disease.

Science.gov (United States)

Talsania, Mitali; Scofield, Robert Hal

2017-05-01

Menopause occurs naturally in women at about 50 years of age. There is a wealth of data concerning the relationship of menopause to systemic lupus erythematosus, rheumatoid arthritis, and osteoarthritis; there are limited data concerning other rheumatic diseases. Age at menopause may affect the risk and course of rheumatic diseases. Osteoporosis, an integral part of inflammatory rheumatic diseases, is made worse by menopause. Hormone replacement therapy has been studied; its effects vary depending on the disease and even different manifestations within the same disease. Cyclophosphamide can induce early menopause, but there is underlying decreased ovarian reserve in rheumatic diseases. Published by Elsevier Inc.

Symptoms in Inflammatory Bowel Disease: pathophysiologic aspects and their relation with disease activity

NARCIS (Netherlands)

Minderhoud, I.M.

2007-01-01

Symptoms in Inflammatory Bowel Disease: pathophysiologic aspects and their relation with disease activity Inflammatory bowel disease (IBD) comprises ulcerative colitis (UC) and Crohn's disease (CD). IBD patients frequently complain of fatigue, and a substantial proportion of the patients have