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Статті в журналах з теми "Expanded repeat diseases"
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Polak, Urszula, Elizabeth McIvor, Sharon Y. R. Dent, Robert D. Wells, and Marek Napierala. "Expanded complexity of unstable repeat diseases." BioFactors 39, no. 2 (December 11, 2012): 164–75. http://dx.doi.org/10.1002/biof.1060.
Повний текст джерела
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Yang, Su, Huiming Yang, Luoxiu Huang, Luxiao Chen, Zhaohui Qin, Shihua Li, and Xiao-Jiang Li. "Lack of RAN-mediated toxicity in Huntington’s disease knock-in mice." Proceedings of the National Academy of Sciences 117, no. 8 (February 6, 2020): 4411–17. http://dx.doi.org/10.1073/pnas.1919197117.
Повний текст джерелаАнотація:
Identification of repeat-associated non-AUG (RAN) translation in trinucleotide (CAG) repeat diseases has led to the emerging concept that CAG repeat diseases are caused by nonpolyglutamine products. Nonetheless, the in vivo contribution of RAN translation to the pathogenesis of CAG repeat diseases remains elusive. Via CRISPR/Cas9-mediated genome editing, we established knock-in mouse models that harbor expanded CAG repeats in the mouse huntingtin gene to express RAN-translated products with or without polyglutamine peptides. We found that RAN translation is not detected in the knock-in mouse models when expanded CAG repeats are expressed at the endogenous level. Consistently, the expanded CAG repeats that cannot be translated into polyglutamine repeats do not yield the neuropathological and behavioral phenotypes that were found in knock-in mice expressing expanded polyglutamine repeats. Our findings suggest that RAN-translated products do not play a major role in the pathogenesis of CAG repeat diseases and underscore the importance in targeting polyglutamine repeats for therapeutics.
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Fujino, Yuzo, and Yoshitaka Nagai. "The molecular pathogenesis of repeat expansion diseases." Biochemical Society Transactions 50, no. 1 (December 23, 2021): 119–34. http://dx.doi.org/10.1042/bst20200143.
Повний текст джерелаАнотація:
Expanded short tandem repeats in the genome cause various monogenic diseases, particularly neurological disorders. Since the discovery of a CGG repeat expansion in the FMR1 gene in 1991, more than 40 repeat expansion diseases have been identified to date. In the coding repeat expansion diseases, in which the expanded repeat sequence is located in the coding regions of genes, the toxicity of repeat polypeptides, particularly misfolding and aggregation of proteins containing an expanded polyglutamine tract, have been the focus of investigation. On the other hand, in the non-coding repeat expansion diseases, in which the expanded repeat sequence is located in introns or untranslated regions, the toxicity of repeat RNAs has been the focus of investigation. Recently, these repeat RNAs were demonstrated to be translated into repeat polypeptides by the novel mechanism of repeat-associated non-AUG translation, which has extended the research direction of the pathological mechanisms of this disease entity to include polypeptide toxicity. Thus, a common pathogenesis has been suggested for both coding and non-coding repeat expansion diseases. In this review, we briefly outline the major pathogenic mechanisms of repeat expansion diseases, including a loss-of-function mechanism caused by repeat expansion, repeat RNA toxicity caused by RNA foci formation and protein sequestration, and toxicity by repeat polypeptides. We also discuss perturbation of the physiological liquid-liquid phase separation state caused by these repeat RNAs and repeat polypeptides, as well as potential therapeutic approaches against repeat expansion diseases.
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Loureiro, Joana R., Ana F. Castro, Ana S. Figueiredo, and Isabel Silveira. "Molecular Mechanisms in Pentanucleotide Repeat Diseases." Cells 11, no. 2 (January 8, 2022): 205. http://dx.doi.org/10.3390/cells11020205.
Повний текст джерелаАнотація:
The number of neurodegenerative diseases resulting from repeat expansion has increased extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed in RNA from both DNA strands producing, at least, one toxic RNA repeat that causes neurodegeneration by a complex mechanism. Recently, seven diseases have been found caused by a novel intronic pentanucleotide repeat in distinct genes encoding proteins highly expressed in the cerebellum. These disorders are clinically heterogeneous being characterized by impaired motor function, resulting from ataxia or epilepsy. The role that apparently normal proteins from these mutant genes play in these pathologies is not known. However, recent advances in previously known spinocerebellar ataxias originated by abnormal non-coding pentanucleotide repeats point to a gain of a toxic function by the pathogenic repeat-containing RNA that abnormally forms nuclear foci with RNA-binding proteins. In cells, RNA foci have been shown to be formed by phase separation. Moreover, the field of repeat expansions has lately achieved an extraordinary progress with the discovery that RNA repeats, polyglutamine, and polyalanine proteins are crucial for the formation of nuclear membraneless organelles by phase separation, which is perturbed when they are expanded. This review will cover the amazing advances on repeat diseases.
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Eyk, Clare L. van, Saumya E. Samaraweera, Andrew Scott, Dani L. Webber, David P. Harvey, Olivia Mecinger, Louise V. O’Keefe, et al. "Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases." Human Molecular Genetics 28, no. 18 (May 9, 2019): 3000–3012. http://dx.doi.org/10.1093/hmg/ddz096.
Повний текст джерелаАнотація:
Abstract Inflammation is activated prior to symptoms in neurodegenerative diseases, providing a plausible pathogenic mechanism. Indeed, genetic and pharmacological ablation studies in animal models of several neurodegenerative diseases demonstrate that inflammation is required for pathology. However, while there is growing evidence that inflammation-mediated pathology may be the common mechanism underlying neurodegenerative diseases, including those due to dominantly inherited expanded repeats, the proximal causal agent is unknown. Expanded CAG.CUG repeat double-stranded RNA causes inflammation-mediated pathology when expressed in Drosophila. Repeat dsRNA is recognized by Dicer-2 as a foreign or ‘non-self’ molecule triggering both antiviral RNA and RNAi pathways. Neither of the RNAi pathway cofactors R2D2 nor loquacious are necessary, indicating antiviral RNA activation. RNA modification enables avoidance of recognition as ‘non-self’ by the innate inflammatory surveillance system. Human ADAR1 edits RNA conferring ‘self’ status and when co-expressed with expanded CAG.CUG dsRNA in Drosophila the pathology is lost. Cricket Paralysis Virus protein CrPV-1A is a known antagonist of Argonaute-2 in Drosophila antiviral defense. CrPV-1A co-expression also rescues pathogenesis, confirming anti-viral-RNA response. Repeat expansion mutation therefore confers ‘non-self’ recognition of endogenous RNA, thereby providing a proximal, autoinflammatory trigger for expanded repeat neurodegenerative diseases.
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Maritska, Ziske, Baharudin Baharudin, Ardy Santosa, Ching Leng Kee, Tan Yue Ming, and Sultana MH Faradz. "Screening A Trinucleotide Repeat Expansion: How precise PCR can be?" Bioscientia Medicina : Journal of Biomedicine and Translational Research 3, no. 3 (August 31, 2019): 34–40. http://dx.doi.org/10.32539/bsm.v3i3.94.
Повний текст джерелаАнотація:
ABSTRACT
Background. Trinucleotide Repeat Expansion (TRE) in human DNA could lead to various diseases. An expanded CAG repeat (>31 or 37 repeats, depends on the ethnicity) in Androgen Receptor gene is suggested to be associated with the occurrence of isolated hypospadias. In an effort to identify the exact numbers of repeats, sequencing has been the most favored method to be conducted despite its cost.
Objective. This study wished to investigate the possibilities of using Polymerase Chain Reaction (PCR) method to screen expanded repeats in isolated hypospadias, as one of the TRE diseases.
Materials and Methods. Numbers of CAG repeat in twelve hypospadias patients and one normal male was first predicted from the visualization of PCR products in 3% agarose gel electrophoreses with 20 bp ladder marker before it was finally sequenced.
Results. Two samples gave the same exact result, while the rest showed a range of 1-11 bp differences. Statistically, there was a significant difference between the mean of CAG repeats from PCR method (M=26.1667, SD=6.71272) and the mean of CAG repeats from sequencing (M=23.75, SD=5.70685); t(11)= 4.570, p=0.001. Furthermore, the sensitivity of PCR was 100% and the specificity was 83.33%.
Conclusion. It can be concluded that PCR method could be used as a screening method in identifying TRE with large numbers of repeats. However, PCR in TRE disease with small numbers of expanded repeats needs to be followed by sequencing in order to obtain the exact numbers of repeats.
Keywords: Trinucleotide Repeat Expansion, Polymerase Chain Reaction, Sequencing, Isolated Hypospadias
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O'Donovan, M. C., C. Guy, N. Craddock, T. Bowen, P. McKeon, A. Macedo, W. Maier, et al. "Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder." Psychological Medicine 26, no. 6 (November 1996): 1145–53. http://dx.doi.org/10.1017/s0033291700035868.
Повний текст джерелаАнотація:
SynopsisRecent studies have suggested that expanded CAG/CTG repeats contribute to the genetic aetiology of schizophrenia and bipolar disorder. However, the nature of this contribution is uncertain and difficult to predict from other known trinucleotide repeat diseases that display much simpler patterns of inheritance. We have sought to replicate and extend earlier findings using Repeat Expansion Detection in an enlarged sample of 152 patients with schizophrenia, 143 patients with bipolar disorder, and 160 controls. We have also examined DNA from the parents of 62 probands with schizophrenia or bipolar disorder. Our results confirm our earlier, preliminary findings of an association between expanded trinucleotide repeats and both schizophrenia and bipolar disorder. However, our data do not support the hypothesis that trinucleotide repeat expansion can alone explain the complex patterns of inheritance of the functional psychoses neither can this mechanism fully explain apparent anticipation.
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Gleason, Alec C., Ghanashyam Ghadge, Jin Chen, Yoshifumi Sonobe, and Raymond P. Roos. "Machine learning predicts translation initiation sites in neurologic diseases with nucleotide repeat expansions." PLOS ONE 17, no. 6 (June 1, 2022): e0256411. http://dx.doi.org/10.1371/journal.pone.0256411.
Повний текст джерелаАнотація:
A number of neurologic diseases associated with expanded nucleotide repeats, including an inherited form of amyotrophic lateral sclerosis, have an unconventional form of translation called repeat-associated non-AUG (RAN) translation. It has been speculated that the repeat regions in the RNA fold into secondary structures in a length-dependent manner, promoting RAN translation. Repeat protein products are translated, accumulate, and may contribute to disease pathogenesis. Nucleotides that flank the repeat region, especially ones closest to the initiation site, are believed to enhance translation initiation. A machine learning model has been published to help identify ATG and near-cognate translation initiation sites; however, this model has diminished predictive power due to its extensive feature selection and limited training data. Here, we overcome this limitation and increase prediction accuracy by the following: a) capture the effect of nucleotides most critical for translation initiation via feature reduction, b) implement an alternative machine learning algorithm better suited for limited data, c) build comprehensive and balanced training data (via sampling without replacement) that includes previously unavailable sequences, and d) split ATG and near-cognate translation initiation codon data to train two separate models. We also design a supplementary scoring system to provide an additional prognostic assessment of model predictions. The resultant models have high performance, with ~85–88% accuracy, exceeding that of the previously published model by >18%. The models presented here are used to identify translation initiation sites in genes associated with a number of neurologic repeat expansion disorders. The results confirm a number of sites of translation initiation upstream of the expanded repeats that have been found experimentally, and predict sites that are not yet established.
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Gorbunova, Vera, Andrei Seluanov, Vincent Dion, Zoltan Sandor, James L. Meservy, and John H. Wilson. "Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells." Molecular and Cellular Biology 23, no. 13 (July 1, 2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.
Повний текст джерелаАнотація:
ABSTRACT Despite substantial progress in understanding the mechanism by which expanded CTG/CAG trinucleotide repeats cause neurodegenerative diseases, little is known about the basis for repeat instability itself. By taking advantage of a novel phenomenon, we have developed a selectable assay to detect contractions of CTG/CAG triplets. When inserted into an intron in the APRT gene or the HPRT minigene, long tracts of CTG/CAG repeats (more than about 33 repeat units) are efficiently incorporated into mRNA as a new exon, thereby rendering the encoded protein nonfunctional, whereas short repeat tracts do not affect the phenotype. Therefore, contractions of long repeats can be monitored in large cell populations, by selecting for HPRT+ or APRT+ clones. Using this selectable system, we determined the frequency of spontaneous contractions and showed that treatments with DNA-damaging agents stimulate repeat contractions. The selectable system that we have developed provides a versatile tool for the analysis of CTG/CAG repeat instability in mammalian cells. We also discuss how the effect of long CTG/CAG repeat tracts on splicing may contribute to the progression of polyglutamine diseases.
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Zhao, Xiaonan, Daman Kumari, Carson J. Miller, Geum-Yi Kim, Bruce Hayward, Antonia G. Vitalo, Ricardo Mouro Pinto, and Karen Usdin. "Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease." Journal of Huntington's Disease 10, no. 1 (February 9, 2021): 149–63. http://dx.doi.org/10.3233/jhd-200423.
Повний текст джерелаАнотація:
Huntington’s disease (HD) is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any part of the gene and, while the pathological consequences of the expansion can differ widely, there is evidence to suggest that the underlying mutational mechanism may be similar. In the case of HD, the expanded repeat unit is a CAG trinucleotide located in exon 1 of the huntingtin (HTT) gene, resulting in an expanded polyglutamine tract in the huntingtin protein. Expansion results in neuronal cell death, particularly in the striatum. Emerging evidence suggests that somatic CAG expansion, specifically expansion occurring in the brain during the lifetime of an individual, contributes to an earlier disease onset and increased severity. In this review we will discuss mouse models of two non-CAG repeat expansion diseases, specifically the Fragile X-related disorders (FXDs) and Friedreich ataxia (FRDA). We will compare and contrast these models with mouse and patient-derived cell models of various other repeat expansion disorders and the relevance of these findings for somatic expansion in HD. We will also describe additional genetic factors and pathways that modify somatic expansion in the FXD mouse model for which no comparable data yet exists in HD mice or humans. These additional factors expand the potential druggable space for diseases like HD where somatic expansion is a significant contributor to disease impact.
Дисертації з теми "Expanded repeat diseases"
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Chen, Chiung-Mei. "Investigating the functional consequences of expanded triplet repeat sequence in a mouse model of Huntington's Disease (HD)." Thesis, University of Glasgow, 2002. http://theses.gla.ac.uk/2114/.
Повний текст джерелаАнотація:
A PCR strategy showed that a number of total mtDNA molecules was significantly decreased (~30%) in the striatum (no reduction in the cortex and cerebellum) of 24-month old HD mice, but not a 15 months of age, when compared to wild-type mice, suggesting mtDNA depletion is a progressive rather than a developmental phenomenon. In light of the ~30% reduction of total mtDNA in the striatum, expression levels of the mitochondrial DNA-encoded respiratory complex enzymes, cytochrome b(Cytb), cytochrome c oxidase I (COI) and cytochrome c oxidase II (COII) were investigated in different brain regions of HD mice. At ~25 months of age, there were no significant differences in mRNA levels of CoII and Cytb in any brain region (striatum, cortex and cerebellum) studied when compared to normal littermates. However, HD mice showed significantly decreased CO-I protein levels and marginally decreased CoI mRNA levels in the striatum. Reduced levels of mtDNA may be caused by decreased replication of mtDNA or increased oxidative damage of mtDNA. Increased levels of 8-OHdG, a marker of increased oxidative stress, were detected in the dorsomedial, dorsolateral and ventromedial striatum, but not in the cortex of 24-month old HD mice providing direct evidence that increased oxidative stress specifically occurs in the striatum of HD mice. As no alterations in the mitochondrial transcription factor (mtTFA) in the striatum of HD mice could be detected, it is likely that mtDNA depletion in the HD mice is caused by increased levels of oxidative stress rather than decreased replication. The results provide a basis for further studies investigating how mutant huntingtin causes increased levels of oxidative stress and for identifying novel therapeutic targets.
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Samaraweera, Saumya Erandathi. "Double-stranded RNA as a pathogenic agent in a Drosophila model of dominant expanded repeat diseases." Thesis, 2013. http://hdl.handle.net/2440/90755.
Повний текст джерелаАнотація:
The expansion of tandem repeat sequences beyond a pathogenic threshold is responsible for a series of neurodegenerative diseases known as dominantly inherited expanded repeat diseases. A number of these diseases are caused by the expansion of a CAG repeat tract in the coding region of various genes and are termed polyglutamine diseases. In these cases the polyglutamine tract is thought to contribute to pathogenesis. Several other clinically indistinguishable diseases however, are caused by the expansion of various repeat sequences in untranslated regions of genes. As expanded repeat RNAs are present in each of these cases, these RNAs have been proposed as a common pathogenic agent. Increasing evidence now exists for bi-directional transcription across the expanded repeat sequence of disease genes, leading to toxicity. The products of bi-directional transcription are predicted to form complementary double-stranded RNA. This study uses a Drosophila model of bi-directional transcription to determine the physical properties of the RNA and the downstream pathways that could contribute to pathogenesis in these diseases. Expression of complementary repeat sequences predicted to form double-stranded RNA was toxic in this model and caused age-dependent neurodegeneration. This toxicity was dependent on several components of the RNA biogenesis pathway, including Dicer-2. The abundance of rCAG 21mer RNA and an altered miRNA profile were identified as biomarkers of this pathway. Microarray analysis identified genes involved in redox regulation, immune activation, cellular signalling and neurotransmission as novel candidates of pathogenesis. Furthermore, activation and signalling via the Toll pathway was required for pathogenesis indicating that an elevated immune response contributes to toxicity. Glial expression of double-stranded RNA caused severe neurodegeneration suggestive of non-autonomous toxicity as the cause of neuronal dysfunction. The identification of pathogenic pathways and molecular biomarkers are a critical step in developing therapeutic interventions for these diseases.Thesis (Ph.D.) -- University of Adelaide, School of Molecular and Biomedical Science, 2013
Книги з теми "Expanded repeat diseases"
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Albin, Roger L., and Henry L. Paulson. Huntington Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0007.
Повний текст джерелаАнотація:
A member of the expanded polyglutamine (polyQ) repeat family of neurodegenerative disorders, Huntington disease (HD) is a rare, autosomal, dominantly inherited neuropsychiatric disorder. Characterized by midlife onset, HD exhibits progressive motor, behavioral, and cognitive changes. There is no effective treatment and death usually ensues 15 to 20 years after diagnosis. The expanded polyglutamine repeat causes multiple cellular dysfunctions to induce neurodegeneration. Many brain regions are affected in HD though striatal degeneration is particularly prominent. Widespread availability of specific genetic testing facilitates diagnosis. Management is largely supportive care.
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Storey, Elsdon. The Expanded Polyglutamine Tract Spinocerebellar Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0013.
Повний текст джерелаАнотація:
The spinocerebellar ataxias are dominantly-inherited neurodegenerative disorders whose major clinical feature is incoordination. Although 32 have been described to date, those characterized by (CAG)n repeat expansions resulting in elongated polyglutamine tracts in their respective host proteins (SCAs 1, 2, 3, 6, 7, 17, and in part 8) are the most common and have been subject to the most detailed investigation of their pathogenic mechanisms. All are characterized by polyglutamine tract aggregates, toxicity of which was initially thought to be their pathogenic mechanism. However, recent research has emphasised the importance of host protein context, and the disease-specific mechanisms that this implies.
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Zuccato, Chiara, and Elena Cattaneo. Normal Function of Huntingtin. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0011.
Повний текст джерелаАнотація:
Huntingtin (HTT) is the 3,144–amino acid protein product of the Huntington’s disease gene (HTT), which can be traced back through 800 million years of evolution. It carries a trinucleotide CAG repeat that encodes polyglutamine (polyQ) at an evolutionarily conserved NH2-terminal position in exon 1. This chapter discusses the discoveries that have mapped the evolutionary history of HTT and the CAG repeat and the critical role of the protein in development as well as its activities in the adult brain. During embryogenesis, HTT is critical for gastrulation, neurulation, and neurogenesis. In the adult brain, HTT acts as an antiapoptotic protein and promotes transcription of neuronal genes and vesicle transport. Subversion or exacerbation of HTT brain function by an abnormally expanded polyQ repeat contributes to neuronal vulnerability in HD and suggests that loss of normal HTT function may be implicated in the disease.
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Hughes, Alis, and Lesley Jones. Pathogenic Mechanisms. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0013.
Повний текст джерелаАнотація:
Huntington’s disease (HD) pathogenesis is complex. In the two decades since the gene and its mutation were discovered, there has been extensive exploration of how the expanded CAG repeat in HTT leads to neurodegeneration in HD. This chapter focuses on the mechanisms that potentially contribute to the dysfunction and death of cells in HD. These include repeat instability and RNA toxicity and the production, processing, modification, and degradation of mutant huntingtin. The effects of mutant HTT on cellular processes such as transcription, transport, neurotransmission, and protein clearance are also described. The interdependence and individual importance of these mechanisms in disease etiology remains to be clarified; however, consideration of each could be important for the development of therapeutic interventions in HD.
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Kay, Chris, Emily Fisher, and Michael R. Hayden. Epidemiology. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0007.
Повний текст джерелаАнотація:
The prevalence and persistence of Huntington’s disease (HD) is crucially informed by the causative mutation. Diagnostic and predictive testing has enabled a new era of epidemiologic study of HD, whereby only those who carry an expanded CAG repeat are included in such measures. In Western populations, estimated prevalence of the disease is higher following the introduction of genetic testing, and prevalence may also be increasing in absolute terms. There are worldwide differences in the prevalence of HD by ethnicity and population, which may be accounted for in part by genetic diversity of the CAG repeat and the surrounding haplotype. HD is endemic to all populations, but is most common in populations of European ancestry in which specific disease haplotypes are found. New mutations maintain HD in a population, and genetic differences by population may contribute to differences in the de novo mutation rate.
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Wetzel, Ronald, and Rakesh Mishra. Structural Biology. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0012.
Повний текст джерелаАнотація:
The 3,144–amino acid huntingtin protein (HTT) folds in water into a structure consisting of compact, organized domains interspersed with intrinsically disordered protein (IDP) elements. The IDPs function as sites of post-translational modifications and proteolysis as well as in targeting, binding, and aggregation. Although the dominant structural motif of HTT is the α-helix–rich HEAT repeat, the expanded polyglutamine (polyQ) toxicity responsible for Huntington’s disease is most likely played out within intrinsically disordered HTT exon 1–like fragments consisting of the 16– to 17–amino acid N-terminal HTTNT segment, the polyQ segment, and a proline-rich segment. The physical behavior of HTT exon 1 fragments is dominated by interactive, polyQ repeat length–dependent structural transitions responsible for membrane and protein–protein interactions and the formation of tetramers, higher oligomers, amyloid fibrils, and inclusions. Understanding the basis of this solution behavior may be the key to disease mechanisms and molecular therapeutic strategies.
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Levin, Bruce Lubotsky, Ardis Hanson, and Peter D. Hurd, eds. Introduction to Public Health in Pharmacy. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190238308.001.0001.
Повний текст джерелаАнотація:
The need for texts that blend the areas of pharmacy and public health has continued to expand. Introduction to Public Health in Pharmacy (second edition), builds upon the Center for the Advancement of Pharmacy Education (CAPE) Educational Outcomes report, which emphasizes public health in the domains of Foundational Knowledge and Essentials of Pharmacy Practice and Care, focusing on both patient and population health care outcomes. This second edition has (a) a strong pharmacy-relevant emphasis on the foundations of public health in pharmacy and (b) an increased emphasis on the impact of pharmacy on disease states important in public health and pharmacy in the United States and internationally. This text can be adopted for pharmacy and public health courses but would also be a valuable resource to those teaching therapeutics, patient care, disease prevention, and community engagement. In addition, it is an invaluable resource and handbook for practitioners. The focus is on the role of pharmacy in population health.
Частини книг з теми "Expanded repeat diseases"
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Wetzel, Ronald. "Misfolding and Aggregation in Huntington Disease and Other Expanded Polyglutamine Repeat Diseases." In Protein Misfolding Diseases, 305–24. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470572702.ch14.
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Winblad, Stefan, and Anne-Berit Ekström. "Myotonic Dystrophy." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0057.
Повний текст джерелаАнотація:
The myotonic dystrophies, type 1 (DM1) and 2 (DM2) are progressive, autosomal, dominantly inherited disorders, mainly characterized by muscle weakness and atrophy but also by a variable impact on heart, eye, brain, and the endocrine and the gastrointestinal system (Meola 2000). The worldwide prevalence is approximately 1 in 8,000. They are considered to be most common in Western Europe and Japan, but less prevalent in Southeast Asia, and rare or absent in southern and central Africa (Emery 1991). A prevalence of 18 in 340,000 children has been reported (Darin and Tulinius 2000). The cause of myotonic dystrophies is an unstable inherited repeat DNA expansions. Expansions are elements occurring and repeated throughout the human genome, typically polymorphic in the general population. Repeats can become unstable during DNA replication and, depending on specific repeat motif and location, expanded repeats can become pathogenic. In disease states, the number of repeats exceeds the normal range, leading to various pathogenic mechanisms (Ranum and Cooper 2006). DM1 is associated with an expanded (CTG)n repeat (>50 to several thousands) within the noncoding 3′ untranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q13.3. In DM2, another mutation exists, namely an expanded CCTG tetranucleotide repeat (from 75 to 11,000 repeats) in the first intron of the zinc finger protein 9 (ZNF9) gene on chromosome 3q21 (Day and Ranum 2005). This means that two unrelated genes are associated with similar phenotypes although there are differences, including the age of onset and severity of symptoms (Meola 2000). The first signs of a DM2 disease are typically shown in adulthood, and no study has as yet systematically described cognitive or behavioral abnormalities in a childhood DM2 phenotype. Consequently, the following chapter focuses on a description of DM1. In this disorder, the age of onset is variable, meaning that there are congenital cases, as well as children, adults and patients experiencing the first symptoms very late in life. DM1 is traditionally divided into categories, each presenting with specific clinical features and broadly associated with the age of onset and extent of genetic abnormality.
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ASHIZAWA, TETSUO. "Spinocerebellar Ataxia Type 10: A Disease Caused by an Expanded (ATTCT) n Pentanucleotide Repeat." In Genetic Instabilities and Neurological Diseases, 433–46. Elsevier, 2006. http://dx.doi.org/10.1016/b978-012369462-1/50030-2.
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Rosenblatt, Adam. "Huntington’s Disease." In Psychiatric Aspects of Neurologic Diseases. Oxford University Press, 2008. http://dx.doi.org/10.1093/oso/9780195309430.003.0018.
Повний текст джерелаАнотація:
Huntington’s disease (HD) is a hereditary neurodegenerative disorder characterized by the triad of a movement disorder, dementia, and various psychiatric disturbances. HD is caused by the abnormal expansion of a trinucleotide (CAG) repeat in the huntingtin gene of chromosome 4—a mutation that is inherited as an autosomal dominant. When the number of CAG repeats exceeds 39, the individual harboring it goes on to develop HD. The most common time of onset is in the fourth or fifth decade, but the age of onset is inversely correlated with the size of the triplet repeat expansion. In rare instances, persons with very large expansions may have onset in childhood, and those with expansions only just into the abnormal range may have onset late in life. Children of affected fathers, if they receive the abnormal allele, tend to inherit an allele that is even further expanded, and thus usually experience the onset of symptoms at a younger age than their fathers; this phenomenon is known as paternal anticipation. The progression of HD is inexorable and usually leads to death within 15 to 20 years of symptom onset; patients in the final stages have severe dementia and are unable to speak, eat, or purposefully move. Death typically results from the consequences of immobility such as pneumonia or malnutrition. The movement disorder of HD has two major manifestations: involuntary movements (eg, chorea, dystonia) and impairments of voluntary movement (eg, clumsiness, dysarthria, swallowing difficulties, falls, bradykinesia, rigidity). Chorea generally predominates early in the course and is gradually eclipsed by motor impairment as the disease becomes more advanced. In the end stages, patients are rigid and immobile. A variety of medications are used to suppress chorea in HD, including neuroleptics, benzodiazepines, and dopamine-depleting agents such as tetrabenazine, but it remains controversial whether these agents convey functional, as opposed to cosmetic, benefits. HD, like many other neurodegenerative disorders, is associated with a variety of psychiatric problems. Some of these problems such as insomnia or demoralization may be thought of as nonspecific. They have a variety of causes and are associated with many different medical conditions.
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SHELBOURNE, PEGGY F., and DARREN G. MONCKTON. "Somatic Mosaicism of Expanded CAG·CTG Repeats in Humans and Mice: Dynamics, Mechanisms, and Consequences." In Genetic Instabilities and Neurological Diseases, 537–61. Elsevier, 2006. http://dx.doi.org/10.1016/b978-012369462-1/50036-3.
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Margolis, Russell L. "Dementia due to Huntington’s disease." In New Oxford Textbook of Psychiatry, edited by John R. Geddes, Nancy C. Andreasen, and Guy M. Goodwin, 448–53. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198713005.003.0045.
Повний текст джерелаАнотація:
Huntington’s disease (HD), first described in 1872, is perhaps the prototypical hereditary dementia and movement disorder. Key features include autosomal dominant inheritance, typically mid-life clinical onset, and a clinical triad of abnormal voluntary and involuntary movements, subcortical dementia, and psychiatric symptoms. The disease progresses inevitably, with death typically 15–20 years after onset. Neurodegeneration is most prominent in the striatum and cerebral cortex. The discovery of the causative mutation, an expanded CAG repeat in the gene huntingtin, has led to the development of reliable genetic testing for affected and at-risk individuals and an explosion of neurobiological research into HD pathogenesis. While present treatment of HD is limited to managing symptoms, there is considerable optimism that treatments to prevent, slow, or stop disease progression may be feasible in the near future.
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Ross, Christopher A., Russell L. Margolis, Mark W. Becher, Jonathan D. Wood, Simone Engelender, Jillian K. Cooper, and Alan H. Sharp. "Chapter 28 Pathogenesis of neurodegenerative diseases associated with expanded glutamine repeats: New answers, new questions." In Progress in Brain Research, 397–419. Elsevier, 1998. http://dx.doi.org/10.1016/s0079-6123(08)64029-7.
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Kopp, Peter A. "Fiesta and Famine." In Hoptopia. University of California Press, 2016. http://dx.doi.org/10.1525/california/9780520277472.003.0008.
Повний текст джерелаАнотація:
With the repeal of Prohibition and the reemergence of a domestic beer market, Willamette Valley farmers once again caught “hop fever.” Acreage expanded to its peak level in history by 1936. This chapter explains how hop farmers became more organized and initiated the first successful hop grower organizations. These organizations achieved success in marketing controls and improving the region’s reputation. Simultaneously, Willamette Valley growers successfully expanded the celebratory nature of the hop harvest by implementing a Hop Fiesta to attract workers. The event became one of Oregon’s most important annual cultural affairs, as growers drew in thousands of harvest workers with the promise of clean camping, live music, dancing, parades, and even the crowning of a Hop Queen. Despite this success in the 1930s, however, a botanical disease, called downy mildew, had crept its way to the Pacific Coast, leaving many hop fields in ruins. By 1943, Oregon relinquished its hold as the national leader in hop production.
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Keshavamurthy, Suresh, Vanessa M. Bazan, Thomas A. Tribble, and Joseph B. Zwischenberger. "Bicaval Dual-Lumen ECMO Cannulation for Lung Transplantation." In Extracorporeal Membrane Oxygenation, edited by Marc O. Maybauer, 405–14. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197521304.003.0040.
Повний текст джерелаАнотація:
Use of the dual-lumen cannula (DLC) for veno-venous extracorporeal membrane oxygenation [(dl)V-V ECMO] has rapidly expanded in the adult population, particularly when used as a bridge to lung transplantation. This chapter begins with a case report of end-stage interstitial lung disease that resulted in (dl)V-V ECMO for a bridge to lung transplantation. The case is followed by clinical questions and answers highlighting the unique aspects, advantages, and pitfalls of (dl)V-V ECMO management. Increased knowledge and availability of ECMO have improved the likelihood of a positive outcome for refractory conditions, as in the case of end-stage interstitial lung disease patients. Careful patient selection is required in order to successfully bridge a patient to transplant and minimize the occurrence of fatal or debilitating complications.
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Poole-Di Salvo, Elizabeth. "Intrauterine and Postnatal Exposure to Tobacco and Secondhand Smoke and Child Cognitive and Behavioral Development." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0070.
Повний текст джерелаАнотація:
Children’s involuntary exposure to tobacco smoke is a common and substantial health problem that has been receiving increasing attention from the pediatric, public health and research communities. According to the 2006 Surgeon General’s Report, there is no safe level of tobacco smoke exposure, yet at least 30% of children in the United States live in households with at least one adult smoker, and nearly 60% have evidence of recent exposure (Machlin, Hill, and Liang 2006). Tobacco smoke exposure has been causally linked to numerous adverse health outcomes and is currently a leading preventable cause of both low birth weight and sudden infant death syndrome, and a major contributor to lower respiratory infections, otitis media, and increased asthma severity (American Academy of Pediatrics, Committee on Environmental Health 1997; Cook and Strachan 1999; DiFranza et al. 2004). Recently, associations between tobacco smoke exposure and other childhood health problems, such as increased rates of dental caries (Aligne et al. 2003; Iida et al. 2007), food insecurity (Cutler et al. in press), and the metabolic syndrome (Weitzman et al. 2005) have been identified. As discussed in this chapter, a growing human and animal literature, which expands upon a more than 25-year-old body of work, also indicates that involuntary exposure to tobacco smoke during the pre- and/or postnatal periods is associated with adverse cognitive and behavioral outcomes in children. Tobacco smoke exposure has been associated with decrements in IQ, problems with learning and memory, difficulty with auditory processing, neonatal hyperactivity, attention-deficit hyperactivity disorder (ADHD), internalizing and externalizing behavioral problems, and conduct disorder. Animal models have provided evidence that tobacco is toxic to the developing brain, and there are plausible biologic pathways that appear to mediate these effects. Exciting new studies have begun to identify specific genes that play a role in the relationship between tobacco smoke exposure and adverse cognitive and behavioral outcomes in children. The term “secondhand smoke” (SHS), also referred to as “environmental tobacco smoke” (ETS), refers to the smoke that is exhaled from a smoker’s lungs, as well as the smoke from the smoldering end of a cigarette.
Тези доповідей конференцій з теми "Expanded repeat diseases"
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Fernandez, Paulo Eduardo Lahoz, Guilherme Diogo Silva, and Eduardo Genaro Mutarelli. "Studies across subspecialties of neurology (SON) report noninferiority of telemedicine (TM) compared with face-to-face intervention (FTF-I)." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.680.
Повний текст джерелаАнотація:
Background: Studies across subspecialties of neurology (SON) report noninferiority of telemedicine (TM) compared with face-to-face intervention (FTF-I). Clinical scales (CS) are important tools for outcome measures in clinical care. However, which CS in FTF-I can be used in teleneurology is unclear. Objectives: Define the most used CS in studies comparing TM with FTF-I in different SON. Design and Setting/Methods: We searched PubMed and Embase for randomized controlled trials, published from 2011 to April 2021, with Key words ‘’telemedicine’’ cross-referenced with ‘’neurology’’ or neurological diseases, considering the synonyms. Results: 43 eligible studies in 400 records, from 12 countries, with 5600 patients and 8 SON: stroke (10), headache (4), epilepsy (6), cognitive disorders (7), demyelinating diseases (8), movement disorders (3), neuromuscular diseases (3), and vestibular diseases (2). The most used CS: National Institute of Health Stroke Scale (NIHSS) and Modified Rankin Scale (MRS) for stroke impairment and limitation; Headache Impact Test (HIT-6) and Migraine Disability Assessment Scale (MIDAS) for headache disability; Quality Of Life in Epilepsy Inventory (QOL-31) for seizure burden; Mini-Mental State Exam (MMSE) and Zarit Burden Interview (ZBI) for cognitive function and caregiver burden in dementia care; Expanded Disability Status Scale (EDSS) and Fatigue Impact Scale (FIS) for disability and fatigue in Multiple Sclerosis; Parkinson’s disease Questionnaire (PDQ-39) and Unified Parkinson’s Disease Rating Scale (UPDRS) for QOL and disability in PD; Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R) for severity in ALS; and Vertigo Symptom Scale Short form (VSS-SF) for vertigo. Conclusions: We present feasible CS usually applied in teleneurology that can be used as important tools for future findings in TM research and practice.
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Fonseca, Igor Oliveira da, Stella de Angelis Trivellato, Mayara Apolinario Januzzi, Guilherme Drumond Jardini Anastacio, and Igor de Lima e. Teixeira. "Sign of the unilateral “Coca-Cola Bottle”: in addition to thyroid disease." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.748.
Повний текст джерелаАнотація:
Background: The “Coca-Cola Bottle Sign” is a classic sign of thyroid diseases, especially Graves’ disease, with the appearance of eye orbit muscles edema seen by Magnetic Resonance Imaging. The belly of the muscle increases in thickness, giving the characteristic appearance. Despite being classically associated with this etiology, the finding may be present in other diseases, especially infiltrative ones. Objectives: To demonstrate how this radiological signal can suggest other etiologies, when atypical. Methods: Case report of a patient with an image finding suggestive of “CocaCola Bottle Sign”. Results: Patient, 71 years old, with Breast Cancer and Hepatic Metastasis, using Anastrazole. Osmophobia started and after 3 months, reduced visual acuity in the right eye, evolving in 20 days to amaurosis in the right eye, dizzying, and loss of visual acuity in the left eye. Upon examination, he had a missing direct pupillary reflex in the right eye and only light perception, and counting fingers in the left eye; paresis of the Superior Rectus, Medial, and Lower Oblique muscles of the Left Eye, with paresis maintained in the forced duction test. On ophthalmoscopy, he had atrophy of the retinal pigment epithelium in the bilateral periphery, without Papilledema. Metabolic screening did not show any relevant changes. In the Magnetic Resonance of Orbits, an intraconal nodular image was seen in the right orbital cavity, with perineuritis and extension to the belly of the lateral rectus muscle on this side, as the “Coca-Cola Bottle Sign”. Due to unilateral muscle involvement and signs of meningeal involvement, lumbar puncture with cytopathological examination was requested, being positive for Carcinoma Metastasis. Conclusions: The “Coca-Cola Bottle sign” is a classic sign of Graves’ disease, however, some signs, such as, unilateral and single orbital musculature involvement, may be suggestive of involvement by other etiologies, suggesting the benefit of an early expanded investigation.
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Resende, Larissa Damian, Thiago de Abreu Silva Pinto, Henrique Marreiros Veloso Carneiro, and Fellype Matos do Prado. "Hirayama Disease: Case report of a rare case in Brazil." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.678.
Повний текст джерелаАнотація:
Context: Hiravama’s disease (HD) is a rare neurological condition described by keizo Hirayama in 1959, in which growth of the content of the spinal canal displaces the posterior dural sac previously when flexing the neck at the level of C7 and T1. Thus, it generates ischemic damage in the cells of the anterior spine. In this context, we present a case report about the disease. Case report: Male, 13 years old, complaining of difficulty in grasping his right hand for 5 months and atrophy in his right upper limb for 1 month. On physical examination, the neurological changes found were: Decreased strength of the right upper limb distally, the deep hypoactive reflexes in both upper limbs. Magnetic resonance imaging of the flexed cervical spine showed stenosis of the C5 to T1 spinal canal, flow-voids prominence in the posterior epidural space (suggestive of venous engorgement), tapering and alteration of T2 signal in the C5-C6 medulla. These findings and along with the clinical history confirmed the diagnosis of HD. Conclusion: HD is a rare disease that needs to be known. Thus, the present study expands the database about the disease, which if diagnosed early, improves the patient’s prognosis.
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Braga, Vinícius Lopes, Wladimir Bocca Vieira de Rezende Pinto, Bruno de Mattos Lombardi Badia, José Marcos Vieira de Albuquerque Filho, Igor Braga Farias, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Spastic paraplegia type 73: expanding phenotype of the first two Brazilian families." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.552.
Повний текст джерелаАнотація:
Context: Hereditary spastic paraplegias (HSPs) represent an expanding group of neurodegenerative diseases characterized mainly by progressive spastic paraparesis of the lower limbs. More than 80 different genetic loci have been associated with HSPs. In 2015, heterozygous pathogenic variants in the CPT1C gene were first associated with SPG73, not yet described in Brazilian patients. Objective: We present clinical, neuroimaging and genetic features of three Brazilian patients with SPG73. Cases reports: We report one male and two female patients, age range 36 to 78 years old. Case 1 presented with a 4-year-history of spasticity, predominantly crural tetraplegia, bladder incontinence, dysphagia and dysphonia. Family history disclosed a sister with epilepsy. Whole-exome sequencing (WES) disclosed a heterozygosis variant c.863G>A (p.Arg288His) in exon 9 of the CPT1C. Cases 2 and 3 are first degree relatives (mother and son). Both presented with long-standing slowly progressive spastic paraplegia. Case 3 presented bladder incontinence, constipation, dysphagia and dysphonia at late stages. Cases 2 and 3 WES disclosed the heterozygosis variant c.196T>G (p.Phe66Val) in exon 4 of the CPT1C. Discussion: Previous literature described six patients from an Italian family with pure HSPs phenotype and the pathogenic variant c.109C>G (p.Arg3. 7Cys) in CPT1C gene. Another group described three patients associated with pure HSPs phenotype and the pathogenic variant (c.226C>T) in the CPT1C gene. All previous reported cases had benign clinical course and bulbar involvement was not described before. One of our cases presented with a de novo variant and rapidly progressive motor and bulbar compromise. Conclusion: our cases expand the current knowledge about SPG73, including a rapidly progressive phenotype with bulbar involvement and cognitive compromise at late stages of disease course.
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Hyre, M. R., and R. M. Pulliam. "Balloon/Stent Expansion Dynamics in Stenotic Arteries." In ASME 2008 International Mechanical Engineering Congress and Exposition. ASMEDC, 2008. http://dx.doi.org/10.1115/imece2008-68060.
Повний текст джерелаАнотація:
Inflation balloons for stents are typically sized 1–2mm longer than endovascular stents, yet the effects of the degree of balloon overhang are unknown. In this study, a computational model capable of predicting balloon/stent/artery/plaque interactions and their effects on arterial and plaque stresses was developed to assess the effects of length mismatch and plaque classification on stent expansion characteristics and arterial stresses in diseased arteries. A 16-mm long, 1-mm unexpanded diameter, slotted tube stent was modeled and expanded using contact frictional elements by symmetrically-placed, tapered 17-mm and 18-mm balloons within an artery which contained no plaque to evaluate the effects of stent/balloon size mismatch on arterial stresses. The 18-mm balloon was then also used to expand inside an artery lined with plaque. The plaque was crescent shaped and axisymmetric with a maximum stenosis of 40%. In one model the plaque was primarily cellular, while in another model the plaque was calcified. ANSYS was used to perform the FEA. This model takes into account the multilinear elastic balloon expansion, non-linear plastic stent expansion, and the hyper-elastic arterial and plaque deformations. In this study, endflare was defined by stent diameter at proximal end with respect to stent diameter at the midpoint. Results from this study indicate that without plaque repsent, the maximum arterial stress at balloon contact is approximately proportional to the degree of balloon overhang. A 100% increase in balloon overhang results in a 4% increase in maximum endflare and a 39% change in a peak arterial stress. However, at the end of expansion, which is of the most clinical importance, the increase in max endflare is 2% and the increase in maximum arterial stress is 93% at the balloon point of contact and 45% at the point of contact with the far proximal and distal ends of the stent. When comparing the results of calcified and cellular plaque, a maximum endflare of about 55% was observed for both the calcified and cellular plaque cases during expansion. At the end of expansion the increase in max endflare is 10% for the cellular plaque and 40% of the calcified plaque. The peak equivalent stress seen by the artery was about 100% larger in the cellular case than in the calcified plaque case. This was due to much of the stress being contained within the calcified plaque. The peak stress seen by the plaque was 100% larger in the calcified than in the cellular plaque.
Звіти організацій з теми "Expanded repeat diseases"
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Dillon, M., B. Buddemeier, and K. Yu. Centers for Disease Control and Prevention (CDC) Radiation Hazard Scale: Expanded Data Product Feedback Report. Office of Scientific and Technical Information (OSTI), October 2021. http://dx.doi.org/10.2172/1883032.
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Toloo, Sam, Ruvini Hettiarachchi, David Lim, and Katie Wilson. Reducing Emergency Department demand through expanded primary healthcare practice: Full report of the research and findings. Queensland University of Technology, January 2022. http://dx.doi.org/10.5204/rep.eprints.227473.
Повний текст джерелаАнотація:
Demand for public hospital emergency departments’ services and care is increasing, placing considerable restraint on their performance and threatens patient safety. Many factors influence such demand including individual characteristics (e.g. perceptions, knowledge, values and norms), healthcare availability, affordability and accessibility, population aging, and internal health system factors (e.g patient flow, discharge process). To alleviate demand, many initiatives have been trialled or suggested, including early identification of at-risk patients, better management of chronic disease to reduce avoidable ED presentation, expanded capacity of front-line clinician to manage sub-acute and non-urgent care, improved hospital flow to reduce access block, and diversion to alternate site for care. However, none have had any major or sustained impact on the growth in ED demand. A major focus of the public discourse on ED demand has been the use and integration of primary healthcare and ED, based on the assumption that between 10%–25% of ED presentations are potentially avoidable if patients’ access to appropriate primary healthcare (PHC) services were enhanced. However, this requires not only improved access but also appropriateness in terms of the patients’ preference and PHC providers’ capacity to address the needs. What is not known at the moment is the extent of the potential for diversion of non-urgent ED patients to PHC and the cost-benefits of such policy and funding changes required, particularly in the Australian context. There is a need to better understand ED patients’ needs and capacity constraint so as to effect delivery of accessible, affordable, efficient and responsive services. Jennie Money Doug Morel
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Rogers, Caroline. A synthesis of coral reef research at Buck Island Reef National Monument and Salt River Bay National Historical Park and Ecological Preserve, St. Croix, U.S. Virgin Islands: 1961 to 2022. National Park Service, September 2022. http://dx.doi.org/10.36967/2294235.
Повний текст джерелаАнотація:
This synthesis focuses on the history of research on coral reefs within two U.S. National Park Service units in St. Croix, U.S. Virgin Islands: Buck Island Reef National Monument (from 1961 to 2022) and Salt River Bay National Historical Park and Ecological Preserve (from 1980 to 2022). Buck Island Reef National Monument (BUIS) is off the north shore of the island of St. Croix, in the U.S. Virgin Islands. Established in 1961 and expanded in 2001, it is under the jurisdiction of the National Park Service (NPS). Long-term monitoring programs maintained by the NPS and jointly by the University of the Virgin Islands (UVI) and the Virgin Islands Department of Planning and Natural Resources (VIDPNR) provide data on trends in living coral cover and specific coral species from 2000 and 2001, respectively. Disease, thermal stress (indicated by coral bleaching), and hurricanes reduced total coral cover periodically, but cover remained relatively stable from 2007 through the end of 2020. Salt River Bay National Historical Park and Ecological Preserve (SARI) is a national park on the north shore of the island of St. Croix, in the U.S. Virgin Islands. Established in 1992, it is co-managed by the NPS and the Government of the Virgin Islands. Long-term monitoring programs maintained by the NPS and by the UVI with the VIDPNR provide data on trends in living coral cover and individual coral species from 2011 and 2001, respectively. In spite of thermal stress (indicated by coral bleaching), disease, and hurricanes, total coral cover remained relatively stable through the end of 2020. This document also includes results from extensive investigations by the National Oceanic and Atmospheric Administration (NOAA) and from many individual projects including those based out of the underwater saturation habitats Hydrolab and Aquarius from 1977 to 1989, as well as studies from researchers at Fairleigh Dickinson University’s West Indies Laboratory. While not possible to review all of these in detail, this report highlights information considered useful to managers, and scientists planning future research. In 2021, a particularly virulent disease called stony coral tissue loss disease (SCTLD), first noted in 2014 in Florida, and then in 2019 in the U.S. Virgin Islands, started killing corals in BUIS and SARI with the different species showing a gradient of susceptibility. An exact cause or link between this disease and human actions has not been discovered to date. The losses associated with this disease have now exceeded those from any other stressors in these national parks.
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Willits, Daniel H., Meir Teitel, Josef Tanny, Mary M. Peet, Shabtai Cohen, and Eli Matan. Comparing the performance of naturally ventilated and fan-ventilated greenhouses. United States Department of Agriculture, March 2006. http://dx.doi.org/10.32747/2006.7586542.bard.
Повний текст джерелаАнотація:
The objectives of this project were to predict the performance of naturally and fan-ventilated greenhouses as a function of climate, type of crop, evaporative cooling and greenhouse size, and to estimate the effects of the two cooling systems on yield, quality and disease development in the different crops under study. Background In the competitive field of greenhouse cultivation, growers and designers in both the US and Israel are repeatedly forced to choose between naturally ventilated (NV) and fan ventilated (FV) cooling systems as they expand their ranges in an effort to remain profitable. The known advantages and disadvantages of each system do not presently allow a clear decision. Whether essentially zero operating costs can offset the less dependable cooling of natural ventilation systems is question this report hopes to answer. Major Conclusions US It was concluded very early on that FV greenhouses without evaporative pad cooling are not competitive with NV greenhouses during hot weather. During the first year, the US team found that average air temperatures were always higher in the FV houses, compared to the NV houses, when evaporative pad cooling was not used, regardless of ventilation rate in the FV houses or the vent configuration in the NV houses. Canopy temperatures were also higher in the FV ventilated houses when three vents were used in the NV houses. A second major conclusion was that the US team found that low pressure fogging (4 atm) in NV houses does not completely offset the advantage of evaporative pad cooling in FV houses. High pressure fog (65 atm) is more effective, but considerably more expensive. Israel Experiments were done with roses in the years 2003-2005 and with tomatoes in 2005. Three modes of natural ventilation (roof, side and side + roof openings) were compared with a fan-ventilated (with evaporative cooling) house. It was shown that under common practice of fan ventilation, during summer, the ventilation rate is usually lower with NV than with FV. The microclimate under both NV and FV was not homogeneous. In both treatments there were strong gradients in temperature and humidity in the vertical direction. In addition, there were gradients that developed in horizontal planes in a direction parallel to the direction of the prevailing air velocity within the greenhouse. The gradients in the horizontal direction appear to be larger with FV than with NV. The ratio between sensible and latent heat fluxes (Bowen ratio) was found to be dependent considerably on whether NV or FV is applied. This ratio was generally negative in the naturally ventilated house (about -0.14) and positive in the fan ventilated one (about 0.19). Theoretical models based on Penman-Monteith equation were used to predict the interior air and crop temperatures and the transpiration rate with NV. Good agreement between the model and experimental results was obtained with regard to the air temperature and transpiration with side and side + roof ventilation. However, the agreement was poor with only roof ventilation. The yield (number of rose stems longer than 40 cm) was higher with FV
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Plant Protection and Quarantine: Helping U.S. Agriculture Thrive--Across the Country and Around the World, 2016 Annual Report. U.S. Department of Agriculture, Animal and Plant Health Inspection Service, March 2017. http://dx.doi.org/10.32747/2017.7207241.aphis.
Повний текст джерелаАнотація:
For Plant Protection and Quarantine (PPQ) and our partners, 2016 was a year of remarkable successes. Not only did we eradicate 10 fruit fly outbreaks, but we also achieved 4 years with zero detections of pink bollworm, moving us one step closer to eradicating this pest from all commercial cotton-growing areas of the continental United States. And when the U.S. corn industry faced the first-ever detection of bacterial leaf streak (Xanthomonas vasicular pv vasculorum), we devised a practical and scientific approach to manage the disease and protect valuable export markets. Our most significant domestic accomplishment this year, however, was achieving one of our agency’s top 10 goals: eliminating the European grapevine moth (EGVM) from the United States. On the world stage, PPQ helped U.S. agriculture thrive in the global market-place. We worked closely with our international trading partners to develop and promote science-based standards, helping to create a safe, fair, and predictable agricultural trade system that minimizes the spread of invasive plant pests and diseases. We reached critical plant health agreements and resolved plant health barriers to trade, which sustained and expanded U.S. export markets valued at more than $4 billion. And, we helped U.S. producers meet foreign market access requirements and certified the health of more than 650,000 exports, securing economic opportunities for U.S. products abroad. These successes underscore how PPQ is working every day to keep U.S. agriculture healthy and profitable.
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Community-based AIDS prevention and care in Africa—Dissemination of Phase I findings: Report of five national workshops. Population Council, 1995. http://dx.doi.org/10.31899/hiv1995.1000.
Повний текст джерелаАнотація:
Given the constraints faced by the health care infrastructure in responding to the AIDS crisis in sub-Saharan Africa, and the limitations of traditional educational approaches in motivating people to modify their sexual behavior within the African context, community-based efforts at AIDS prevention, and care of those affected, are the first lines of defense against the disease. Thus, they deserve greater scrutiny, to learn from the experiences and to continue and expand their efforts. The “Community-Based AIDS Prevention and Care in Africa: Building on Local Initiatives” project is being carried out by the Population Council with support from Glaxo Wellcome. The project, which integrates HIV/AIDS prevention and care activities at the community level, focuses on five countries in East and Southern Africa (Kenya, Tanzania, Uganda, Zambia, and Zimbabwe). The first phase identified essential components that make community-based efforts successful. The second phase includes dissemination of findings from Phase I in the five participating countries, developing and implementing action-oriented research activities to strengthen the client-support capabilities of selected local initiatives, and reporting research results. This document is a report on the implementation of the first activity under Phase II.
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Reproductive decisionmaking in the context of HIV/AIDS in Ndola, Zambia. Population Council, 1999. http://dx.doi.org/10.31899/rh1999.1018.
Повний текст джерелаАнотація:
Family planning (FP) programs are increasingly being considered as a logical focal point for STD and HIV/AIDS prevention services because they serve large numbers of women at risk, address the sensitive issue of sexual behavior and fertility control, and the methods for preventing unwanted pregnancy and disease can be the same. FP programs, by providing contraceptive methods, are currently one of the few sources of assistance in the sub-Saharan African region for preventing perinatal transmission of HIV, while the promotion of barrier methods contributes to the prevention of heterosexual transmission. Given this potential, research is needed to understand how the HIV epidemic influences reproductive decision-making. The Africa OR/TA II Project undertook an exploratory study of women and men’s attitudes and experiences regarding reproductive decision-making in a setting of high HIV prevalence in Ndola, Zambia. The objectives, as described in this report, were to examine perceptions of risk by men and women living in a high HIV prevalence setting, how these perceptions are related to decisions about childbearing and contraceptive use, and to identify opportunities for FP programs to expand services to address HIV prevention.
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Safeguarding through science: Center for Plant Health Science and Technology 2008 Accomplishments. U.S. Department of Agriculture, Animal and Plant Health Inspection Service, December 2009. http://dx.doi.org/10.32747/2009.7296842.aphis.
Повний текст джерелаАнотація:
The Center for Plant Health Science and Technology (CPHST) was designed and developed to support the regulatory decisions and operations of the Animal and Plant Health Inspection Service’s (APHIS) Plant Protection and Quarantine (PPQ) program through methods development work, scientific investigation, analyses, and technology—all in an effort to safeguard U.S. agriculture and natural resources. This 2008 CPHST Annual Report is intended to offer an in-depth look at the status of its programs and the progress it has made toward the Center’s long-term strategic goals. One of CPHST’s most significant efforts in 2008 was to initiate efforts to improve the Center’s organizational transparency and overall responsiveness to the needs of its stakeholders. As a result of its focus in this area, CPHST is now developing a new workflow process that allows the customers to easily request and monitor projects and ensures that the highest priority projects are funded for successful delivery. This new system will allow CPHST to more dynamically identify the needs of the agency, more effectively allocate and utilize resources, and provide its customers timely information regarding a project’s status. Thus far, while still very much a work in progress, this new process is proving to be successful, and will continue to advance and expand the service to its customers and staff. The considerable and growing concern of homeland security and the management of critical issues drives CPHST to lead the methods development of science-based systems for prevention, preparedness, response, and recovery. CPHST is recognized nationally and internationally for its leadership in scientific developments to battle plant pests and diseases.