WorldWideScience

Sample records for genetics pathology management

  1. Genetic basis of endocrine pathology

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-05-01

    Full Text Available The purpose of the review was analysis of literature data relating to the molecular genetic basis and diagnosis of endocrine pathology. We searched for published and unpublished researches using Pubmed as the search engine by the keywords: ‘genes’, ‘endocrine diseases’, ‘molecular diagnostics’, ‘prohormones’, ‘nuclear receptors and transcription factors’, taking into consideration studies conducted over the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. The criterion for the selection of articles for the study was based on their close relevance to the topic, thus out of 144 analyzed articles, the findings of the researchers covered in 32 articles were crucial. The described nosologies presented various heredi­tary forms of hypopituitarism, disturbances of steroid hormone biosynthesis, abnormal gender formation, monogenic forms of diabetes mellitus, endocrine tumors, etc. Pathology is identified that is associated with a mutation of genes encoding protein prohormones, receptors, steroid biosynthesis enzymes, intracellular signaling molecules, transport proteins, ion channels, and transcription factors. Among the endocrine diseases associated with defects in genes encoding protein prohormones, the defects of the GH1 gene are most common, the defects in the gene CYP21A2 (21-hydroxylase are among diseases associated with defects in genes encoding enzymes. More often mutations of genes encoding proteins belong to the class of G-protein coupled receptors. Most of the mutations associated with MEN-2A are concentrated in the rich cysteine region of the Ret receptor. More than 70 monogenic syndromes are known, in which there is a marked tolerance to glucose and some form of diabetes mellitus is diagnosed, diabetes mellitus caused by mutation of the mitochondrial gene (mutation tRNALeu, UUR is also detected. Of all the monogenic forms of

  2. Utilization management in anatomic pathology.

    Science.gov (United States)

    Lewandrowski, Kent; Black-Schaffer, Steven

    2014-01-01

    There is relatively little published literature concerning utilization management in anatomic pathology. Nonetheless there are many utilization management opportunities that currently exist and are well recognized. Some of these impact only the cost structure within the pathology department itself whereas others reduce charges for third party payers. Utilization management may result in medical legal liabilities for breaching the standard of care. For this reason it will be important for pathology professional societies to develop national utilization guidelines to assist individual practices in implementing a medically sound approach to utilization management. © 2013.

  3. Genetics and pathological mechanisms of Usher syndrome.

    Science.gov (United States)

    Yan, Denise; Liu, Xue Z

    2010-06-01

    Usher syndrome (USH) comprises a group of autosomal recessively inherited disorders characterized by a dual sensory impairment of the audiovestibular and visual systems. Three major clinical subtypes (USH type I, USH type II and USH type III) are distinguished on the basis of the severity of the hearing loss, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). Since the cloning of the first USH gene (MYO7A) in 1995, there have been remarkable advances in elucidating the genetic basis for this disorder, as evidence for 11 distinct loci have been obtained and genes for 9 of them have been identified. The USH genes encode proteins of different classes and families, including motor proteins, scaffold proteins, cell adhesion molecules and transmembrane receptor proteins. Extensive information has emerged from mouse models and molecular studies regarding pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual function. A unifying hypothesis is that the USH proteins are integrated into a protein network that regulates hair bundle morphogenesis in the inner ear. This review addresses genetics and pathological mechanisms of USH. Understanding the molecular basis of phenotypic variation and pathogenesis of USH is important toward discovery of new molecular targets for diagnosis, prevention and treatment of this debilitating disorder.

  4. Diabetic nephropathy : pathology, genetics and carnosine metabolism

    NARCIS (Netherlands)

    Mooyaart, Antien Leonora

    2011-01-01

    My thesis concerns different aspects of diabetic nephropathy. A pathologic classification of diabetic nephropathy is developed, a meta-analyis of genes in diabetic nephropathy is developed and the other chapters are about the CNDP1 gene in relation to kidney disease, mainly diabetic nephropathy.

  5. Application of molecular genetic tools for forest pathology

    Science.gov (United States)

    Mee-Sook Kim; John Hanna; Amy Ross-Davis; Ned Klopfenstein

    2012-01-01

    In recent years, advances in molecular genetics have provided powerful tools to address critical issues in forest pathology to help promote resilient forests. Although molecular genetic tools are initially applied to understand individual components of forest pathosystems, forest pathosystems involve dynamic interactions among biotic and abiotic components of the...

  6. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Radiology Department, Buenos Aires (Argentina); Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Department of Neuropediatrics, Buenos Aires (Argentina); Taratuto, Ana L. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Neuropathology Consultant, Buenos Aires (Argentina)

    2017-05-15

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  7. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    International Nuclear Information System (INIS)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G.; Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V.; Taratuto, Ana L.

    2017-01-01

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  8. How Are Genetic Conditions Treated or Managed?

    Science.gov (United States)

    ... mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Help Me Understand Genetics Genetic Consultation How are genetic conditions treated or managed? How are genetic conditions treated or managed? Many ...

  9. Genetics and molecular pathology of Stargardt-like macular degeneration.

    Science.gov (United States)

    Vasireddy, Vidyullatha; Wong, Paul; Ayyagari, Radha

    2010-05-01

    Stargardt-like macular degeneration (STGD3) is an early onset, autosomal dominant macular degeneration. STGD3 is characterized by a progressive pathology, the loss of central vision, atrophy of the retinal pigment epithelium, and accumulation of lipofuscin, clinical features that are also characteristic of age-related macular degeneration. The onset of clinical symptoms in STGD3, however, is typically observed within the second or third decade of life (i.e., starting in the teenage years). The clinical profile at any given age among STGD3 patients can be variable suggesting that, although STGD3 is a single gene defect, other genetic or environmental factors may play a role in moderating the final disease phenotype. Genetic studies localized the STGD3 disease locus to a small region on the short arm of human chromosome 6, and application of a positional candidate gene approach identified protein truncating mutations in the elongation of very long chain fatty acids-4 gene (ELOVL4) in patients with this disease. The ELOVL4 gene encodes a protein homologous to the ELO group of proteins that participate in fatty acid elongation in yeast. Pathogenic mutations found in the ELOVL4 gene result in altered trafficking of the protein and behave with a dominant negative effect. Mice carrying an Elovl4 mutation developed photoreceptor degeneration and depletion of very long chain fatty acids (VLCFA). ELOVL4 protein participates in the synthesis of fatty acids with chain length longer than 26 carbons. Studies on ELOVL4 indicate that VLCFA may be necessary for normal function of the retina, and the defective protein trafficking and/or altered VLCFA elongation underlies the pathology associated with STGD3. Determining the role of VLCFA in the retina and discerning the implications of abnormal trafficking of mutant ELOVL4 and depleted VLCFA content in the pathology of STGD3 will provide valuable insight in understanding the retinal structure, function, and pathology underlying STGD3

  10. Genetic aspects of pathological gambling: a complex disorder with shared genetic vulnerabilities.

    Science.gov (United States)

    Lobo, Daniela S S; Kennedy, James L

    2009-09-01

    To summarize and discuss findings from genetic studies conducted on pathological gambling (PG). Searches were conducted on PubMed and PsychInfo databases using the keywords: 'gambling and genes', 'gambling and family' and 'gambling and genetics', yielding 18 original research articles investigating the genetics of PG. Twin studies using the Vietnam Era Twin Registry have found that: (i) the heritability of PG is estimated to be 50-60%; (ii) PG and subclinical PG are a continuum of the same disorder; (iii) PG shares genetic vulnerability factors with antisocial behaviours, alcohol dependence and major depressive disorder; (iv) genetic factors underlie the association between exposure to traumatic life-events and PG. Molecular genetic investigations on PG are at an early stage and published studies have reported associations with genes involved in the brain's reward and impulse control systems. Despite the paucity of studies in this area, published studies have provided considerable evidence of the influence of genetic factors on PG and its complex interaction with other psychiatric disorders and environmental factors. The next step would be to investigate the association and interaction of these variables in larger molecular genetic studies with subphenotypes that underlie PG. Results from family and genetic investigations corroborate further the importance of understanding the biological underpinnings of PG in the development of more specific treatment and prevention strategies.

  11. A Required Rotation in Clinical Laboratory Management for Pathology Residents

    OpenAIRE

    Arvind Rishi MD; Syed T. Hoda MD; James M. Crawford MD, PhD

    2016-01-01

    Leadership and management training during pathology residency have been identified repeatedly by employers as insufficient. A 1-month rotation in clinical laboratory management (CLM) was created for third-year pathology residents. We report on our experience and assess the value of this rotation. The rotation was one-half observational and one-half active. The observational component involved being a member of department and laboratory service line leadership, both at the departmental and ins...

  12. Critical leadership and management skills for pathology practice.

    Science.gov (United States)

    Brimhall, Bradley B; Wright, Louis D; McGregor, Kelli L; Hernandez, James S

    2007-10-01

    Managed care has changed the nature of medical practice. The practice of pathology has also changed and is likely to undergo further modification. Additional skills in leadership and management are needed to perform optimally in the current medical marketplace. To determine whether pathologists view business and informatics skills as being important and valuable in their practices. A survey was sent electronically (via e-mail) to 2566 pathologists and pathology administrators. Two hundred sixteen survey recipients (8.4%) responded to the survey. The response rate to individual questions ranged from 86% to 99% (186 to 214 of 216 total respondents). Most who took the survey ranked communication (203/209; 97%), leadership skills (165/209; 79%), and systems thinking skills (155/209; 74%) as either "very important" or "essential." Fewer respondents were willing to offer salary premiums for marketing (108/196; 55%), business or finance (92/196; 47%), or staff leadership (95/196; 48%) skills unless the candidate had a track record of measurable achievement using these skills. Those practicing in academia as well as those making hiring decisions by themselves were more likely to value leadership and management skills. Fewer than 1% of respondents in any category considered current pathology residency training in leadership and management to be adequate. Prospective employers value leadership and management skills. Pathology residency programs must include meaningful training in pathology practice management and informatics to satisfy the demand for these skills in the modern pathology marketplace.

  13. Progress toward improved leadership and management training in pathology.

    Science.gov (United States)

    Weiss, Ronald L; Hassell, Lewis A; Parks, Eric R

    2014-04-01

    Competency gaps in leadership and laboratory management skills continue to exist between what training programs deliver and what recent graduates and future employers expect. A number of recent surveys substantiate this. Interest in delivering content in these areas is challenged by time constraints, the presence of knowledgeable faculty role models, and the necessary importance placed on diagnostic skills development, which overshadows any priority trainees have toward developing these skills. To describe the problem, the near-future horizon, the current solutions, and the recommendations for improving resident training in laboratory management. The demands of new health care delivery models and the value being placed on these skills by the Pathology Milestones and Next Accreditation System initiative of the Accreditation Council for Graduate Medical Education for training programs emphasizes their importance. This initiative includes 6 milestone competencies in laboratory management. Organizations like the American Society for Clinical Pathology, the American Pathology Foundation, the College of American Pathologists, and the Association of Pathology Chairs Program Directors Section recognize these competencies and are working to create new tools for training programs to deploy. It is our recommendation that (1) every training program develop a formal educational strategy for management training, (2) greater opportunity and visibility be afforded for peer-reviewed publications on management topics in mainstream pathology literature, and (3) pathology milestones-oriented tools be developed to assist program directors and their trainees in developing this necessary knowledge and skills.

  14. Assessment and Management of Professionalism Issues in Pathology Residency Training

    Directory of Open Access Journals (Sweden)

    Ronald E. Domen MD

    2015-07-01

    Full Text Available Professionalism issues are common in residency training and can be very difficult to recognize and manage. Almost one-third of the milestones for pathology recently instituted by the Accreditation Council for Graduate Medical Education encompass aspects of professionalism. Program directors are often unsure of how and when to remediate residents for unprofessional behavior. We used a case-based educational approach in a workshop setting to assist program directors in the management of unprofessional behavior in residents. Eight case scenarios highlighting various aspects of unprofessional behavior by pathology residents were developed and presented in an open workshop forum at the annual pathology program director’s meeting. Prior to the workshop, 2 surveys were conducted: (1 to collect data on program directors’ experience with identifying, assessing, and managing unprofessional behavior in their residents and (2 to get feedback from workshop registrants on how they would manage each of the 8 case scenarios. A wide range of unprofessional behaviors have been observed by pathology program directors. Although there is occasionally general agreement on how to manage specific behaviors, there remains wide variation in how to manage many of the presented unprofessional behaviors. Remediation for unprofessional behavior in pathology residents remains a difficult and challenging process. Additional education and research in this area are warranted.

  15. Clinico-Pathologic Presentation and Management of ...

    African Journals Online (AJOL)

    Von Recklinghausen's) Disease among North-Eastern Nigerians: A six year review. ... presentation and to highlight the need of multi disciplinary approach in the management of this condition. Methodology: The case records of patients who ...

  16. Chapter 15. Plant pathology and managing wildland plant disease systems

    Science.gov (United States)

    David L. Nelson

    2004-01-01

    Obtaining specific, reliable knowledge on plant diseases is essential in wildland shrub resource management. However, plant disease is one of the most neglected areas of wildland resources experimental research. This section is a discussion of plant pathology and how to use it in managing plant disease systems.

  17. The PMCA pumps in genetically determined neuronal pathologies.

    Science.gov (United States)

    Calì, Tito; Brini, Marisa; Carafoli, Ernesto

    2018-01-10

    Ca 2+ signals regulate most aspects of animal cell life. They are of particular importance to the nervous system, in which they regulate specific functions, from neuronal development to synaptic plasticity. The homeostasis of cell Ca 2+ must thus be very precisely regulated: in all cells Ca 2+ pumps transport it from the cytosol to the extracellular medium (the Plasma Membrane Ca 2+ ATPases, hereafter referred to as PMCA pumps) or to the lumen of intracellular organelles (the Sarco/Endoplasmatic Reticulum Ca 2+ ATPase and the Secretory Pathway Ca 2+ ATPase, hereafter referred to as SERCA and SPCA pumps, respectively). In neurons and other excitable cells a powerful plasma membrane Na + /Ca 2+ exchanger (NCX) also exports Ca 2+ from cells. Quantitatively, the PMCA pumps are of minor importance to the bulk regulation of neuronal Ca 2+ . However, they are important in the regulation of Ca 2+ in specific sub-plasma membrane microdomains which contain a number of enzymes that are relevant to neuronal function. The PMCA pumps (of which 4 basic isoforms are expressed in animal cells) are P-type ATPases that are characterized by a long C-terminal cytosolic tail which is the site of interaction with most of the regulatory factors of the pump, the most important being calmodulin. In resting neurons, at low intracellular Ca 2+ the C-terminal tail of the PMCA interacts with the main body of the protein keeping it in an autoinhibited state. Local Ca 2+ increase activates calmodulin that removes the C-terminal tail from the inhibitory sites. Dysregulation of the Ca 2+ signals are incompatible with healthy neuronal life. A number of genetic mutations of PMCA pumps are associated with pathological phenotypes, those of the neuron-specific PMCA 2 and PMCA 3 being the best characterized. PMCA 2 mutations are associated with deafness and PMCA 3 mutations are linked to cerebellar ataxias. Biochemical analysis of the mutated pumps overexpressed in model cells have revealed their

  18. Using Genetic Buffering Relationships Identified in Fission Yeast To Elucidate the Molecular Pathology of Tuberous Sclerosis

    Science.gov (United States)

    2016-07-01

    tsc1 and tsc2 loss of function mutations in Schizosaccharomyces pombe. Northeast Regional Yeast Meeting, June 16-17, University at Buffalo, The State...AWARD NUMBER: W81XWH-14-1-0169 TITLE: Using Genetic Buffering Relationships Identified in Fission Yeast To Elucidate the Molecular Pathology of...SUBTITLE Using Genetic Buffering Relationships Identified in Fission 5a. CONTRACT NUMBER W81XWH-14-1-0169 Yeast to Elucidate the Molecular Pathology

  19. A real-time dashboard for managing pathology processes.

    Science.gov (United States)

    Halwani, Fawaz; Li, Wei Chen; Banerjee, Diponkar; Lessard, Lysanne; Amyot, Daniel; Michalowski, Wojtek; Giffen, Randy

    2016-01-01

    The Eastern Ontario Regional Laboratory Association (EORLA) is a newly established association of all the laboratory and pathology departments of Eastern Ontario that currently includes facilities from eight hospitals. All surgical specimens for EORLA are processed in one central location, the Department of Pathology and Laboratory Medicine (DPLM) at The Ottawa Hospital (TOH), where the rapid growth and influx of surgical and cytology specimens has created many challenges in ensuring the timely processing of cases and reports. Although the entire process is maintained and tracked in a clinical information system, this system lacks pre-emptive warnings that can help management address issues as they arise. Dashboard technology provides automated, real-time visual clues that could be used to alert management when a case or specimen is not being processed within predefined time frames. We describe the development of a dashboard helping pathology clinical management to make informed decisions on specimen allocation and tracking. The dashboard was designed and developed in two phases, following a prototyping approach. The first prototype of the dashboard helped monitor and manage pathology processes at the DPLM. The use of this dashboard helped to uncover operational inefficiencies and contributed to an improvement of turn-around time within The Ottawa Hospital's DPML. It also allowed the discovery of additional requirements, leading to a second prototype that provides finer-grained, real-time information about individual cases and specimens. We successfully developed a dashboard that enables managers to address delays and bottlenecks in specimen allocation and tracking. This support ensures that pathology reports are provided within time frame standards required for high-quality patient care. Given the importance of rapid diagnostics for a number of diseases, the use of real-time dashboards within pathology departments could contribute to improving the quality of

  20. A real-time dashboard for managing pathology processes

    Directory of Open Access Journals (Sweden)

    Fawaz Halwani

    2016-01-01

    Full Text Available Context: The Eastern Ontario Regional Laboratory Association (EORLA is a newly established association of all the laboratory and pathology departments of Eastern Ontario that currently includes facilities from eight hospitals. All surgical specimens for EORLA are processed in one central location, the Department of Pathology and Laboratory Medicine (DPLM at The Ottawa Hospital (TOH, where the rapid growth and influx of surgical and cytology specimens has created many challenges in ensuring the timely processing of cases and reports. Although the entire process is maintained and tracked in a clinical information system, this system lacks pre-emptive warnings that can help management address issues as they arise. Aims: Dashboard technology provides automated, real-time visual clues that could be used to alert management when a case or specimen is not being processed within predefined time frames. We describe the development of a dashboard helping pathology clinical management to make informed decisions on specimen allocation and tracking. Methods: The dashboard was designed and developed in two phases, following a prototyping approach. The first prototype of the dashboard helped monitor and manage pathology processes at the DPLM. Results: The use of this dashboard helped to uncover operational inefficiencies and contributed to an improvement of turn-around time within The Ottawa Hospital′s DPML. It also allowed the discovery of additional requirements, leading to a second prototype that provides finer-grained, real-time information about individual cases and specimens. Conclusion: We successfully developed a dashboard that enables managers to address delays and bottlenecks in specimen allocation and tracking. This support ensures that pathology reports are provided within time frame standards required for high-quality patient care. Given the importance of rapid diagnostics for a number of diseases, the use of real-time dashboards within

  1. A Required Rotation in Clinical Laboratory Management for Pathology Residents

    Science.gov (United States)

    Hoda, Syed T.; Crawford, James M.

    2016-01-01

    Leadership and management training during pathology residency have been identified repeatedly by employers as insufficient. A 1-month rotation in clinical laboratory management (CLM) was created for third-year pathology residents. We report on our experience and assess the value of this rotation. The rotation was one-half observational and one-half active. The observational component involved being a member of department and laboratory service line leadership, both at the departmental and institutional level. Observational participation enabled learning of both the content and principles of leadership and management activities. The active half of the rotation was performance of a project intended to advance the strategic trajectory of the department and laboratory service line. In our program that matriculates 4 residents per year, 20 residents participated from April 2010 through December 2015. Their projects either activated a new priority area or helped propel an existing strategic priority forward. Of the 16 resident graduates who had obtained their first employment or a fellowship position, 9 responded to an assessment survey. The majority of respondents (5/9) felt that the rotation significantly contributed to their ability to compete for a fellowship or their first employment position. The top reported benefits of the rotation included people management; communication with staff, departmental, and institutional leadership; and involvement in department and institutional meetings and task groups. Our 5-year experience demonstrates both the successful principles by which the CLM rotation can be established and the high value of this rotation to residency graduates. PMID:28725766

  2. A Required Rotation in Clinical Laboratory Management for Pathology Residents

    Directory of Open Access Journals (Sweden)

    Arvind Rishi MD

    2016-05-01

    Full Text Available Leadership and management training during pathology residency have been identified repeatedly by employers as insufficient. A 1-month rotation in clinical laboratory management (CLM was created for third-year pathology residents. We report on our experience and assess the value of this rotation. The rotation was one-half observational and one-half active. The observational component involved being a member of department and laboratory service line leadership, both at the departmental and institutional level. Observational participation enabled learning of both the content and principles of leadership and management activities. The active half of the rotation was performance of a project intended to advance the strategic trajectory of the department and laboratory service line. In our program that matriculates 4 residents per year, 20 residents participated from April 2010 through December 2015. Their projects either activated a new priority area or helped propel an existing strategic priority forward. Of the 16 resident graduates who had obtained their first employment or a fellowship position, 9 responded to an assessment survey. The majority of respondents (5/9 felt that the rotation significantly contributed to their ability to compete for a fellowship or their first employment position. The top reported benefits of the rotation included people management; communication with staff, departmental, and institutional leadership; and involvement in department and institutional meetings and task groups. Our 5-year experience demonstrates both the successful principles by which the CLM rotation can be established and the high value of this rotation to residency graduates.

  3. Role of plant pathology in integrated pest management.

    Science.gov (United States)

    Jacobsen, B J

    1997-01-01

    Integrated Pest Management (IPM) is a paradigm that is widely adopted by all pest control disciplines but whose early definitions and philosophical basis belong to entomologists. Plant pathology research and extension work has historically emphasized integration of several control strategies and fits both historical and modern definitions of IPM. While the term IPM has been used only sparingly in the phytopathology literature, the integrated disease management strategies emphasized are now considered to be at the forefront of ecologically based or biointensive pest management. While IPM is broadly endorsed by crop protection disciplines, farmers, other agriculturalists, and consumers, the potential for Integrated Pest Management has not been fully realized. Most IPM programs reflect a package of tools and decision aids for individual crop insect, weed, nematode, and plant disease management. IPM programs that integrate all types of pests with the agroecosystem, crop growth and loss models still await the formation of interdisciplinary teams focusing on growers needs. Lack of funding for both discipline and interdisciplinary developmental research and implementation is responsible for the paucity of comprehensive IPM programs for the majority of the U.S. crop acreage. This review explores the origins and evolution of the IPM paradigm and reviews efforts to achieve the body of knowledge and implementation structure to achieve IPM's full potential.

  4. Genetic regulation of immunoglobulin E level in different pathological states: integration of mouse and human genetics

    Czech Academy of Sciences Publication Activity Database

    Gusareva, Elena; Kurey, Irina; Grekov, Igor; Lipoldová, Marie

    2014-01-01

    Roč. 89, č. 2 (2014), s. 375-405 ISSN 1464-7931 R&D Projects: GA ČR GA310/08/1697; GA MŠk LH12049 Institutional support: RVO:68378050 Keywords : Genetic control of complex diseases * Immunoglobulin E * Epistasis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.670, year: 2014

  5. Genetic association between polymorphism of mdm2 gene and symptoms and pathological types of NSCLC

    International Nuclear Information System (INIS)

    Liu Xiaolan; Wang Weili; Zhang Xueying; Hao Ming; Liu Linlin; Wu Zhenfeng; Jiang Hongwei

    2008-01-01

    Objective: To investigate the genetic association between polymorphism of mdm2 gene and symptoms and pathological types of non-small cell lung cancer (NSCLC). Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was used to identify mdm2 genotypes. The Pearson Chi square test and Woolf statistic method were used to analyze the relative risk and 95% confidence interval (CI) in order to find the genetic association between polymorphism of mdm2 gene and symptoms and pathological types of NSCLC. Results: In the SNP rs1196337 (a G to A base change) AA genotype showed association with cough of NSCLC (P<0.05). Conclusion: The polymorphism of mdm2 gene may be associated with symptom as cough of NSCLC. (authors)

  6. Predictive Analytics to Support Real-Time Management in Pathology Facilities.

    Science.gov (United States)

    Lessard, Lysanne; Michalowski, Wojtek; Chen Li, Wei; Amyot, Daniel; Halwani, Fawaz; Banerjee, Diponkar

    2016-01-01

    Predictive analytics can provide valuable support to the effective management of pathology facilities. The introduction of new tests and technologies in anatomical pathology will increase the volume of specimens to be processed, as well as the complexity of pathology processes. In order for predictive analytics to address managerial challenges associated with the volume and complexity increases, it is important to pinpoint the areas where pathology managers would most benefit from predictive capabilities. We illustrate common issues in managing pathology facilities with an analysis of the surgical specimen process at the Department of Pathology and Laboratory Medicine (DPLM) at The Ottawa Hospital, which processes all surgical specimens for the Eastern Ontario Regional Laboratory Association. We then show how predictive analytics could be used to support management. Our proposed approach can be generalized beyond the DPLM, contributing to a more effective management of pathology facilities and in turn to quicker clinical diagnoses.

  7. Predictive Analytics to Support Real-Time Management in Pathology Facilities

    Science.gov (United States)

    Lessard, Lysanne; Michalowski, Wojtek; Chen Li, Wei; Amyot, Daniel; Halwani, Fawaz; Banerjee, Diponkar

    2016-01-01

    Predictive analytics can provide valuable support to the effective management of pathology facilities. The introduction of new tests and technologies in anatomical pathology will increase the volume of specimens to be processed, as well as the complexity of pathology processes. In order for predictive analytics to address managerial challenges associated with the volume and complexity increases, it is important to pinpoint the areas where pathology managers would most benefit from predictive capabilities. We illustrate common issues in managing pathology facilities with an analysis of the surgical specimen process at the Department of Pathology and Laboratory Medicine (DPLM) at The Ottawa Hospital, which processes all surgical specimens for the Eastern Ontario Regional Laboratory Association. We then show how predictive analytics could be used to support management. Our proposed approach can be generalized beyond the DPLM, contributing to a more effective management of pathology facilities and in turn to quicker clinical diagnoses. PMID:28269873

  8. Managing ecosystems without prior knowledge: pathological outcomes of lake liming

    Directory of Open Access Journals (Sweden)

    David G. Angeler

    2017-12-01

    Full Text Available Management actions often need to be taken in the absence of ecological information to mitigate the impact of pressing environmental problems. Managers counteracted the detrimental effects of cultural acidification on aquatic ecosystems during the industrial era using liming to salvage biodiversity and ecosystem services. However, historical contingencies, i.e., whether lakes were naturally acidic or degraded because of acidification, were largely unknown and therefore not accounted for in management. It is uncertain whether liming outcomes had a potentially detrimental effect on naturally acidic lakes. Evidence from paleolimnological reconstructions allowed us to analyze community structure in limed acidified and naturally acidic lakes, and acidified and circumneutral references. We analyzed community structure of phytoplankton, zooplankton, macroinvertebrates (littoral, sublittoral, profundal, and fish between 2000 and 2004. Naturally acidic limed lakes formed communities that were not representative of the other lake types. The occurrence of fish species relevant for ecosystem service provisioning (fisheries potential in naturally acidic limed lakes were confounded by biogeographical factors. In addition, sustained changes in water quality were conducive to harmful algal blooms. This highlights a pathological outcome of liming lakes when their naturally acidic conditions are not accounted for. Because liming is an important social-ecological system, sustained ecological change of lakes might incur undesired costs for societies in the long term.

  9. Dietary management and genetic predisposition

    DEFF Research Database (Denmark)

    Jensen, Hanne Holbæk; Larsen, Lesli Hingstrup

    2013-01-01

    variation, and epigenetics might identify additional genetic contributions to obesity, and the use of omics data with integration of nutrigenetics and nutrigenomics will identify genetic subgroups who will benefit from specific dietary advice to optimize health and prevent disease. Keywords: Diet . Mutation...... epidemically worldwide, the investigation of genetic predisposition might help to prevent and treat obesity. Predisposition to obesity includes syndromes, such as Prader-Willi Syndrome (PWS), severe early-onset obesity, such as mutations in the melanocortin 4 receptor (MC4R), and common forms of obesity......, such as genetic variation in the fat mass and obesity associated gene (FTO). Several studies have explored gene-diet interactions in obesity, weight loss, and regain, but there is a lack of consistency in the identified interactions. This inconsistency is most probably due to a low-moderate effect size...

  10. INHERITED PATHOLOGY OF β2-LAMININ (PIERSON SYNDROME: CLINICAL AND GENETIC ASPECTS

    Directory of Open Access Journals (Sweden)

    M.Yu. Kagan

    2010-01-01

    Full Text Available For the last decade a great successes were attained in the study of molecular bases of glomerular diseases. It was certain that the most frequent reasons of congenital and infantile nephrotic syndrome are mutations in the genes of NPHS1, NPHS2, and WT1. Nevertheless, until now, a number of patients, having combination of early nephrotic syndrome with inherent pathology of other organs, which etiology remains un known. These cases continue to be intensively probed. One of the most important recent achievements in understanding of molecular mechanisms of early nephrotic syndrome is the discovery of mutations of gene of LAMB2, encoding β2 laminin, as the cause of Pearson syndrome (OMIM#609049. In this article the author presents the basic genetic and clinical descriptions of this recently identified pathology. Key words: Pearson syndrome, congenital nephrotic syndrome, β2 laminin, malformation of organ of vision. (Pediatric Pharmacology. – 2010; 7(3:114-117

  11. LAPAROSCOPIC EVALUATION AND MANAGEMENT OF ADNEXAL PATHOLOGY AMONG WOMEN ATTENDING TERTIARY CARE CENTRE, MAHARASHTRA

    OpenAIRE

    Milind V; Tushar; Amol

    2014-01-01

    BACKGROUND: The Laparoscope is a precise diagnostic tool. Laparoscopy represents a considerable advance in the early and accurate diagnosis and management of pelvic pathologic conditions. Laparoscopy now provides the gynecologist valuable information necessary for the choice of treatment in case of adnexal pathology. The present study carried out with the objective to evaluate the role of laparoscopy in diagnosis of adnexal pathology and management of it. METHODOLOGY: The ...

  12. Genetic Polymorphism of Secretoglobin SCGB1A1 and Development of Lung Pathology in Children

    Directory of Open Access Journals (Sweden)

    N.K. Malaya

    2014-02-01

    Full Text Available The purpose of investigation — to study of A(38G genetic polymorphism of the first exon of secretoglobin SCGB1A1 in Crimean children and to identify the possible correlation between the degree of polymorphism and development of lung pathology (bronchial asthma and recurrent bronchitis. There were investigated DNA samples from children with bronchial asthma (75 persons, recurrent bronchitis (19 persons and healthy children (20 persons aged from 6 to 16 years. The genetic polymorphism was determined by polymerase chain reaction with method of allele discrimination with registration the results by electrophoresis. Frequency of allele combinations of genetic variants of studied polymorphism was different in patients with bronchial asthma, recurrent bronchitis and in control group. Thus, among patients with bronchial asthma the frequency of homozygous allele AA carriers is lower, and among patients with recurrent bronchitis it is higher then in control group. Contrary, the frequency of AG heterozygotes was higher among patients with bronchial asthma then in patients with recurrent bronchitis and in control group. Also the frequency of AG heterozygotes in patients with recurrent bronchitis is much lower than homozygotes. The obtained results can be used for prognostic purpose to evaluate the prospects of the obstructive syndrome development.

  13. New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals

    Directory of Open Access Journals (Sweden)

    RENATA V. VELHO

    2015-08-01

    Full Text Available With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations, including the following: the identification and characterization of translational readthrough compounds; antisense oligonucleotide-mediated splicing redirection; mismatch repair; and exon skipping. These therapies and other approaches are reviewed in this paper.

  14. New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals.

    Science.gov (United States)

    Velho, Renata V; Sperb-Ludwig, Fernanda; Schwartz, Ida V D

    2015-08-01

    With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations, including the following: the identification and characterization of translational readthrough compounds; antisense oligonucleotide-mediated splicing redirection; mismatch repair; and exon skipping. These therapies and other approaches are reviewed in this paper.

  15. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish Deerhounds

    International Nuclear Information System (INIS)

    Breur, G.J.; Zerbe, C.A.; Slocombe, R.F.; Padgett, G.A.; Braden, T.D.

    1989-01-01

    Clinical, radiographic, pathologic, and genetic features of a form of osteochondrodysplasia in 5 related Scottish Deerhound pups from 2 litters were evaluated. All pups appeared to be phenotypically normal at birth. At approximately 4 or 5 weeks, exercise intolerance and retarded growth were observed. Kyphosis, limb deformities, and joint laxity gradually developed. Radiography of the affected pups revealed skeletal changes characterized by abnormalities in long bones and vertebrae, with involvement of epiphyses, growth plates, and metaphyses. Short long bones and vertebrae and irregular and delayed epiphyseal ossification were most noticeable in younger pups; in older pups, bony deformities became more prominent. In skeletally mature dogs, osteopenia and severe deformities were seen. The histologic changes of the growth plate were compatible with a diagnosis of chondrodysplasia. Growth plate chondrocytes contained periodic acid Schiff-positive, diastase-resistant cytoplasmic inclusions. A single autosomal recessive mode of inheritance was suspected

  16. MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features.

    Science.gov (United States)

    Radmard, Amir Reza; Hashemi Taheri, Amir Pejman; Salehian Nik, Elham; Kooraki, Soheil; Kolahdoozan, Shadi; Mirminachi, Babak; Sotoudeh, Masoud; Ekhlasi, Golnaz; Malekzadeh, Reza; Shahbazkhani, Bijan

    2017-10-01

    To assess small bowel abnormalities on magnetic resonance enterography (MRE) in adult patients with nonresponsive celiac disease (CD) and investigate their associations with endoscopic, histopathologic, serologic, and genetic features. This prospective study was carried out between September 2012 and August 2013. After approval by the Ethics Committee of our institution, informed consent was acquired from all participants. Forty consecutive patients with nonresponsive CD, aged 17-76 years, underwent MRE using a 1.5T unit. Sequences included T 2 -HASTE, True-FISP, pre- and postcontrast VIBE to assess the quantitative (number of ileal and jejunal folds) and qualitative (fold pattern abnormalities, mural thickening, increased enhancement, bowel dilatation, or intussusception) measures. Endoscopic manifestations were categorized as normal/mild vs. severe. Histopathological results were divided into mild and severe. Genotyping of HLA-DQ2 and DQ8 was performed. Serum levels of tissue-transglutaminase, endomysial, and gliadin antibodies were also determined. Logistic regression analysis and receiver operating characteristic (ROC) curve were used. Twenty-nine (72.5%) cases showed abnormal MRE. Reversed jejunoileal fold pattern had significant association with severe endoscopic (odds ratio [OR] = 8.38, 95% confidence interval [CI] 1.73-40.5) and pathologic features (OR = 7.36, 95% CI 1.33-40.54). An increased number of ileal folds/inch was significantly associated with severe MARSH score and positive HLA-DQ8. (P reversal on MRE is highly associated with endoscopic and pathologic features of refractory celiac disease (RCD). Increased ileal folds showed higher correlation with endoscopic-pathologic features, HLA-DQ8, and anti-transglutaminase level. MRE might be more sensitive for detection of increased ileal folds in CD rather than reduction of duodenal and jejunal folds due to better distension of ileal loops. 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017

  17. Managing genetic diversity and society needs

    Directory of Open Access Journals (Sweden)

    Arthur da Silva Mariante

    2008-07-01

    Full Text Available Most livestock are not indigenous to Brazil. Several animal species were considered domesticated in the pre-colonial period, since the indigenous people manage them as would be typical of European livestock production. For over 500 years there have been periodic introductions resulting in the wide range of genetic diversity that for centuries supported domestic animal production in the country. Even though these naturalized breeds have acquired adaptive traits after centuries of natural selection, they have been gradually replaced by exotic breeds, to such an extent, that today they are in danger of extinction To avoid further loss of this important genetic material, in 1983 Embrapa Genetic Resources and Biotechnology decided to include conservation of animal genetic resources among its priorities. In this paper we describe the effort to genetically characterize these populations, as a tool to ensure their genetic variability. To effectively save the threatened local breeds of livestock it is important to find a niche market for each one, reinserting them in production systems. They have to be utilized in order to be conserved. And there is no doubt that due to their adaptive traits, the Brazilian local breeds of livestock can play an important role in animal production, to meet society needs.

  18. Role of targeted magnetic resonance imaging sequences in the surgical management of anterior skull base pathology.

    Science.gov (United States)

    Chawla, S; Bowman, J; Gandhi, M; Panizza, B

    2017-01-01

    The skull base is a highly complex anatomical region that provides passage for important nerves and vessels as they course into and out of the cranial cavity. Key to the management of pathology in this region is a thorough understanding of the anatomy, with its variations, and the relationship of various neurovascular structures to the pathology in question. Targeted high-resolution magnetic resonance imaging on high field strength magnets can enable the skull base surgeon to understand this intricate relationship and deal with the pathology from a position of relative advantage. With the help of case studies, this paper illustrates the application of specialised magnetic resonance techniques to study pathology of the orbital apex in particular. The fine anatomical detail provided gives surgeons the ability to design an endonasal endoscopic procedure appropriate to the anatomy of the pathology.

  19. Host genetics in granuloma formation: human-like lung pathology in mice with reciprocal genetic susceptibility to M. tuberculosis and M. avium.

    Directory of Open Access Journals (Sweden)

    Elena Kondratieva

    2010-05-01

    Full Text Available Development of lung granulomata is a hallmark of infections caused by virulent mycobacteria, reflecting both protective host response that restricts infection spreading and inflammatory pathology. The role of host genetics in granuloma formation is not well defined. Earlier we have shown that mice of the I/St strain are extremely susceptible to Mycobacterium tuberculosis but resistant to M. avium infection, whereas B6 mice show a reversed pattern of susceptibility. Here, by directly comparing: (i characteristics of susceptibility to two infections in vivo; (ii architecture of lung granulomata assessed by immune staining; and (iii expression of genes encoding regulatory factors of neutrophil influx in the lung tissue, we demonstrate that genetic susceptibility of the host largely determines the pattern of lung pathology. Necrotizing granuloma surrounded by hypoxic zones, as well as a massive neutrophil influx, develop in the lungs of M. avium-infected B6 mice and in the lungs of M. tuberculosis-infected I/St mice, but not in the lungs of corresponding genetically resistant counterparts. The mirror-type lung tissue responses to two virulent mycobacteria indicate that the level of genetic susceptibility of the host to a given mycobacterial species largely determines characteristics of pathology, and directly demonstrate the importance of host genetics in pathogenesis.

  20. McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient.

    Science.gov (United States)

    Vasilev, Vladimir; Daly, Adrian F; Thiry, Albert; Petrossians, Patrick; Fina, Frederic; Rostomyan, Liliya; Silvy, Monique; Enjalbert, Alain; Barlier, Anne; Beckers, Albert

    2014-10-01

    McCune Albright syndrome (MAS) is a clinical association of endocrine and nonendocrine anomalies caused by postzygotic mutation of the GNAS1 gene, leading to somatic activation of the stimulatory α-subunit of G protein (Gsα). Important advances have been made recently in describing pathological characteristics of many MAS-affected tissues, particularly pituitary, testicular, and adrenal disease. Other rarer disease related features are emerging. The objective of the investigation was to study the pathological and genetic findings of MAS on a tissue-by-tissue basis in classically and nonclassically affected tissues. This was a comprehensive autopsy and genetic analysis. The study was conducted at a tertiary referral university hospital. An adult male patient with MAS and severe disease burden including gigantism was the subject of the study. Interventions included clinical, hormonal, and radiographic studies and gross and microscopic pathology analyses, conventional PCR, and droplet digital PCR analyses of affected and nonaffected tissues. Pathological findings and the presence of GNAS1 mutations were measured. The patient was diagnosed with MAS syndrome at 6 years of age based on the association of café-au-lait spots and radiological signs of polyostotic fibrous dysplasia. Gigantism developed and hyperprolactinemia, hypogonadotropic hypogonadism, and hyperparathyroidism were diagnosed throughout the adult period. The patient died at the age of 39 years from a pulmonary embolism. A detailed study revealed mosaiscism for the p.R201C GNAS1 mutation distributed across many endocrine and nonendocrine tissues. These genetically implicated tissues included rare or previously undescribed disease associations including primary hyperparathyroidism and hyperplasia of the thymus and endocrine pancreas. This comprehensive pathological study of a single patient highlights the complex clinical profile of MAS and illustrates important advances in understanding the

  1. Plant genetic resources management in Ghana: Some challenges in ...

    African Journals Online (AJOL)

    Plant genetic resources management in Ghana: Some challenges in legumes. ... Ghana Journal of Agricultural Science ... The Plant Genetic Resources Research Institute, serving as the national gene bank of Ghana, together with other stakeholders, had made strenuous efforts in managing the legume genetic resources in ...

  2. Pathology informatics fellowship training: Focus on molecular pathology

    Directory of Open Access Journals (Sweden)

    Diana Mandelker

    2014-01-01

    Full Text Available Background: Pathology informatics is both emerging as a distinct subspecialty and simultaneously becoming deeply integrated within the breadth of pathology practice. As specialists, pathology informaticians need a broad skill set, including aptitude with information fundamentals, information systems, workflow and process, and governance and management. Currently, many of those seeking training in pathology informatics additionally choose training in a second subspecialty. Combining pathology informatics training with molecular pathology is a natural extension, as molecular pathology is a subspecialty with high potential for application of modern biomedical informatics techniques. Methods and Results: Pathology informatics and molecular pathology fellows and faculty evaluated the current fellowship program′s core curriculum topics and subtopics for relevance to molecular pathology. By focusing on the overlap between the two disciplines, a structured curriculum consisting of didactics, operational rotations, and research projects was developed for those fellows interested in both pathology informatics and molecular pathology. Conclusions: The scope of molecular diagnostics is expanding dramatically as technology advances and our understanding of disease extends to the genetic level. Here, we highlight many of the informatics challenges facing molecular pathology today, and outline specific informatics principles necessary for the training of future molecular pathologists.

  3. Pathology informatics fellowship training: Focus on molecular pathology.

    Science.gov (United States)

    Mandelker, Diana; Lee, Roy E; Platt, Mia Y; Riedlinger, Gregory; Quinn, Andrew; Rao, Luigi K F; Klepeis, Veronica E; Mahowald, Michael; Lane, William J; Beckwith, Bruce A; Baron, Jason M; McClintock, David S; Kuo, Frank C; Lebo, Matthew S; Gilbertson, John R

    2014-01-01

    Pathology informatics is both emerging as a distinct subspecialty and simultaneously becoming deeply integrated within the breadth of pathology practice. As specialists, pathology informaticians need a broad skill set, including aptitude with information fundamentals, information systems, workflow and process, and governance and management. Currently, many of those seeking training in pathology informatics additionally choose training in a second subspecialty. Combining pathology informatics training with molecular pathology is a natural extension, as molecular pathology is a subspecialty with high potential for application of modern biomedical informatics techniques. Pathology informatics and molecular pathology fellows and faculty evaluated the current fellowship program's core curriculum topics and subtopics for relevance to molecular pathology. By focusing on the overlap between the two disciplines, a structured curriculum consisting of didactics, operational rotations, and research projects was developed for those fellows interested in both pathology informatics and molecular pathology. The scope of molecular diagnostics is expanding dramatically as technology advances and our understanding of disease extends to the genetic level. Here, we highlight many of the informatics challenges facing molecular pathology today, and outline specific informatics principles necessary for the training of future molecular pathologists.

  4. Current problems regarding abortion, prenatal genetic testing and managing pregnancy

    Directory of Open Access Journals (Sweden)

    Klajn-Tatić Vesna

    2011-01-01

    the decision is exclusively brought by the pregnant woman. Critics of prenatal genetic testing claim that the woman’s autonomous choice is seriously prejudiced, as the women are pressured first with genetic testing and then with abortion, if the test is positive. However, there are views that many parents are left to bring their decisions in a vacuum because the physicians do not discuss all possible available options with them out of fear that they will be perceived as orders. Genetic counseling has an aim to facilitate informed reproductive decisions. Rigid application of policies on non-directive genetic counseling make pregnant women and families unaware of the nature and consequences of the genetic state which could affect the future child. If the real goal is an informed choice then it is the obligation of the physician-specialist to inform the parents with the facts and familiarize them with the true state. Managing pregnancies today medicalizes and pathologizes all pregnancies, and not only the risky ones. Since these techniques are becoming a routine part of medicalized pregnancy managing, pregnant women find it difficult to resist undertaking such technologies or to refuse them. Thus the question on how much these technologies offer sensible choices is imposed. Generally speaking, it is stated that women are becoming observers rather than active participants in giving birth to a new life. Attempts of legal control over a pregnant woman for the protection of "the life of the fetus" violate the woman’s human rights in democratic societies.

  5. Pathology and failure in the design and implementation of adaptive management

    Science.gov (United States)

    Allen, Craig R.; Gunderson, Lance H.

    2011-01-01

    The conceptual underpinnings for adaptive management are simple; there will always be inherent uncertainty and unpredictability in the dynamics and behavior of complex ecological systems as a result non-linear interactions among components and emergence, yet management decisions must still be made. The strength of adaptive management is in the recognition and confrontation of such uncertainty. Rather than ignore uncertainty, or use it to preclude management actions, adaptive management can foster resilience and flexibility to cope with an uncertain future, and develop safe to fail management approaches that acknowledge inevitable changes and surprises. Since its initial introduction, adaptive management has been hailed as a solution to endless trial and error approaches to complex natural resource management challenges. However, its implementation has failed more often than not. It does not produce easy answers, and it is appropriate in only a subset of natural resource management problems. Clearly adaptive management has great potential when applied appropriately. Just as clearly adaptive management has seemingly failed to live up to its high expectations. Why? We outline nine pathologies and challenges that can lead to failure in adaptive management programs. We focus on general sources of failures in adaptive management, so that others can avoid these pitfalls in the future. Adaptive management can be a powerful and beneficial tool when applied correctly to appropriate management problems; the challenge is to keep the concept of adaptive management from being hijacked for inappropriate use.

  6. A case report of hypertensive bleed presenting with pathological laughter: Focus on neurobiological correlates and pharmacological management

    Directory of Open Access Journals (Sweden)

    Sujita Kumar Kar

    2015-01-01

    Full Text Available Pathological laughter and crying are episodes of either laughter or crying, which is intense and uncontrollable, usually lasting for brief periods and occurring in paroxysms. In the literature, pathological laughing and crying, emotionalism, pseudo-bulbar affect are synonymously used. Favorable evidences exist with regard to the use of antidepressants, mood stabilizers, and anti-glutaminergic agents for the management of pathological laughter and crying. In this case report, we highlight the clinical presentation of hypertensive bleed in the form of pathological laughter and its management with selective serotonin reuptake inhibitor - sertraline along with literature review regarding its neurobiological basis and pharmacological management.

  7. High grade glioma: Imaging combined with pathological grade defines management and predicts prognosis

    International Nuclear Information System (INIS)

    Burnet, Neil G.; Lynch, Andrew G.; Jefferies, Sarah J.; Price, Stephen J.; Jones, Phil H.; Antoun, Nagui M.; Xuereb, John H.; Pohl, Ute

    2007-01-01

    Introduction: There is ambiguity in pathological grading of high grade gliomas within the WHO 2000 classification, especially those with predominant oligodendroglial differentiation. Patients and methods: All adult high grade gliomas treated radically, 1996-2005, were assessed. Cases in which pathology was grade III but radiology suggested glioblastoma (GBM) were classified as 'grade III/IV'; their pathology was reviewed. Results: Data from 245 patients (52 grade III, 18 grade III/IV, 175 GBM) were analysed using a Cox Proportional Hazards model. On pathology review, features suggestive of more aggressive behaviour were found in all 18 grade III/IV tumours. Oligodendroglial components with both necrosis and microvascular proliferation were present in 7. MIB-1 counts for the last 8 were all above 14%, mean 27%. Median survivals were: grade III 34 months, grade III/IV 10 months, GBM 11 months. Survival was not significantly different between grade III/IV and GBM. Patients with grade III/IV tumours had significantly worse outcome than grade III, with a hazard of death 3.7 times higher. Conclusions: The results highlight the current inconsistency in pathological grading of high grade tumours, especially those with oligodendroglial elements. Patients with histological grade III tumours but radiological appearances suggestive of GBM should be managed as glioblastoma

  8. Management intensity and genetics affect loblolly pine seedling performance

    Science.gov (United States)

    Scott D. Roberts; Randall J. Rousseau; B. Landis Herrin

    2012-01-01

    Capturing potential genetic gains from tree improvement programs requires selection of the appropriate genetic stock and application of appropriate silvicultural management techniques. Limited information is available on how specific loblolly pine varietal genotypes perform under differing growing environments and management approaches. This study was established in...

  9. Identification of management units using population genetic data

    NARCIS (Netherlands)

    Palsboll, Per J.; Berube, Martine; Allendorf, Fred W.

    The identification of management units (MUs) is central to the management of natural populations and is crucial for monitoring the effects of human activity upon species abundance. Here, we propose that the identification of MUs from population genetic data should be based upon the amount of genetic

  10. [Safety management in pathology laboratory: from specimen handling to confirmation of reports].

    Science.gov (United States)

    Minato, Hiroshi; Nojima, Takayuki; Nakano, Mariko; Yamazaki, Michiko

    2011-03-01

    Medical errors in pathological diagnosis give a huge amount of physical and psychological damage to patients as well as medical staffs. We discussed here how to avoid medical errors in surgical pathology laboratory through our experience. Handling of surgical specimens and diagnosing process requires intensive labor and involves many steps. Each hospital reports many kinds of accidents or incidents, however, many laboratories share common problems and each process has its specific risk for the certain error. We analyzed the problems in each process and concentrated on avoiding misaccessioning, mislabeling, and misreporting. We have made several changes in our system, such as barcode labels, digital images of all specimens, putting specimens in embedding cassettes directly on the endoscopic biopsied specimens, and using a multitissue control block as controls in immunohistochemistry. Some problems are still left behind, but we have reduced the errors by decreasing the number of artificial operation as much as possible. A pathological system recognizing the status of read or unread the pathological reports by clinician are now underconstruction. We also discussed about quality assurance of diagnosis, cooperation with clinicians and other comedical staffs, and organization and method. In order to operate riskless work, it is important for all the medical staffs to have common awareness of the problems, keeping careful observations, and sharing all the information in common. Incorporation of an organizational management tool such as ISO 15189 and utilizing PDCA cycle is also helpful for safety management and quality improvement of the laboratory.

  11. Genetic polymorphisms in 5-Fluorouracil-related enzymes predict pathologic response after neoadjuvant chemoradiation for rectal cancer.

    Science.gov (United States)

    Nelson, Bailey; Carter, Jane V; Eichenberger, Maurice R; Netz, Uri; Galandiuk, Susan

    2016-11-01

    Many patients with rectal cancer undergo preoperative neoadjuvant chemoradiation, with approximately 70% exhibiting pathologic downstaging in response to treatment. Currently, there is no accurate test to predict patients who are likely to be complete responders to therapy. 5-Fluorouracil is used regularly in the neoadjuvant treatment of rectal cancer. Genetic polymorphisms affect the activity of thymidylate synthase, an enzyme involved in 5-Fluorouracil metabolism, which may account for observed differences in response to neoadjuvant treatment between patients. Detection of genetic polymorphisms might identify patients who are likely to have a complete response to neoadjuvant therapy and perhaps allow them to avoid operation. DNA was isolated from whole blood taken from patients with newly diagnosed rectal cancer who received neoadjuvant therapy (n = 50). Response to therapy was calculated with a tumor regression score based on histology from the time of operation. Polymerase chain reaction was performed targeting the promoter region of thymidylate synthase. Polymerase chain reaction products were separated using electrophoresis to determine whether patients were homozygous for a double-tandem repeat (2R), a triple-tandem repeat (3R), or were heterozygous (2R/3R). A single nucleotide polymorphism, 3G or 3C, also may be present in the second repeat unit of the triple-tandem repeat allele. Restriction fragment length polymorphism assays were performed in patients with at least one 3R allele using HaeIII. Patients with at least 1 thymidylate synthase 3G allele were more likely to have a complete or partial pathologic response to 5-Fluorouracil neoadjuvant therapy (odds ratio 10.4; 95% confidence interval, 1.3-81.6; P = .01) than those without at least one 3G allele. Identification of rectal cancer patients with specific genetic polymorphisms in enzymes involved in 5-Fluorouracil metabolism seems to predict the likelihood of complete or partial pathologic response

  12. Positives and pathologies of natural resource management on private land-conservation areas.

    Science.gov (United States)

    Clements, Hayley S; Cumming, Graeme S

    2017-06-01

    In managed natural resource systems, such as fisheries and rangelands, there is a recognized trade-off between managing for short-term benefits and managing for longer term resilience. Management actions that stabilize ecological attributes or processes can improve productivity in the supply of ecosystem goods and services in the short term but erode system resilience at longer time scales. For example, fire suppression in rangelands can increase grass biomass initially but ultimately result in an undesirable, shrub-dominated system. Analyses of this phenomenon have focused largely on how management actions influence slow-changing biophysical system attributes (such as vegetation composition). Data on the frequency of management actions that reduce natural ecological variation on 66 private land-conservation areas (PLCAs) in South Africa were used to investigate how management actions are influenced by manager decision-making approaches, a largely ignored part of the problem. The pathology of natural resource management was evident on some PLCAs: increased focus on revenue-generation in decision making resulted in an increased frequency of actions to stabilize short-term variation in large mammal populations, which led to increased revenues from ecotourism or hunting. On many PLCAs, these management actions corresponded with a reduced focus on ecological monitoring and an increase in overstocking of game (i.e., ungulate species) and stocking of extralimitals (i.e., game species outside their historical range). Positives in natural resource management also existed. Some managers monitored slower changing ecological attributes, which resulted in less-intensive management, fewer extralimital species, and lower stocking rates. Our unique, empirical investigation of monitoring-management relationships illustrates that management decisions informed by revenue monitoring versus ecological monitoring can have opposing consequences for natural resource productivity and

  13. [Quality management in pathology--an executive function and political implications].

    Science.gov (United States)

    Turzynski, A

    2013-09-01

    Quality management (QM) is primarily an in-house executive function. It conduces to ensure a high quality service and has the external object to satisfy customer expectations. In Germany the implementation of quality management systems (QMS) is made compulsory for all medical facilities by law. However, details are not regulated and there is no need to certify the in-house QMS. Within the last 10 years many pathology institutions have become certified or accredited and have implemented voluntary measures of external quality assurance, such as quality circles and round robin trials. For non-certified institutions it might be helpful to be guided by established QM standards like the ISO 9001:2008. The fundamental concepts of QM, some pathology-specific aspects and some implications for the professional associations are discussed in this article.

  14. Conservation genetics of managed ungulate populations

    Science.gov (United States)

    Scribner, Kim T.

    1993-01-01

    Natural populations of many species are increasingly impacted by human activities. Perturbations are particularly pronunced for large ungulates due in part to sport and commercial harvest, to reductions and fragmentation of native habitat, and as the result of reintroductions. These perturbations affect population size, sex and age composition, and population breeding structure, and as a consequence affect the levels and partitioning of genetic variation. Three case histories highlighting long-term ecological genetic research on mule deer Odocoileus hemionus (Rafinesque, 1817), white-tailed deer O. virginianus (Zimmermann, 1780), and Alpine ibex Capra i. ibex Linnaeus, 1758 are presented. Joint examinations of population ecological and genetic data from several populations of each species reveal: (1) that populations are not in genetic equilibrium, but that allele frequencies and heterozygosity change dramatically over time and among cohorts produced in successive years, (2) populations are genetically structured over short and large geographic distances reflecting local breeding structure and patterns of gene flow, respectively; however, this structure is quite dynamic over time, due in part to population exploitation, and (3) restocking programs are often undertaken with small numbers of founding individuals resulting in dramatic declines in levels of genetic variability and increasing levels of genetic differentiation among populations due to genetic drift. Genetic characteristics have and will continue to provide valuable indirect sources of information relating enviromental and human perturbations to changes in population processes.

  15. Ovarian preservation in children for adenexal pathology, current trends in laparoscopic management and our experience

    Directory of Open Access Journals (Sweden)

    Preet Agarwal

    2014-01-01

    Full Text Available Aims: Primary cysts and tumors of the ovary alongwith torsion are often regarded as an indication for open oophorectomy because of the fear of leaving an ischemic organ inside and chances of recurrence. We wish to report our experience of both modalities of management where we initially removed adenexal torsion by either laparoscopic salpingo-oophorectomy or oophorectomy, but later followed a more conservative approach of adenexal lesion removal with ovarian preservation. Materials and Methods: Retrospective review of clinical records of patients with ovarian pathology who were managed laparoscopically. Results: 46 cases of pediatric ovarian pathology were managed between March 2006 and March 2013 in two centers by a team of surgeons. The age ranged from 1 days to 18 years (average 14.3 years and the pathology varied from 30 cases of a simple ovarian cyst with torsion, 3 cases of ovarian torsion without any cyst, 7 cases of a dermoid cyst with torsion in all, 1 case of secreting ovarian tumor and 5 cases of a paraovarian cyst with torsion. All patients had a normal tumor marker except 1 girl with a functional ovarian tumor who had elevated LDH and estrogen levels alongwith suppressed LH and FSH. In the initial period of our study we did 1 salpingo-oophorectomy for a suspected complex lesion and two oophorectomies for torsion with a simple cyst. In the later part of our study we performed laparoscopic cystectomy and ovarian preservation in 40 cases, including 7 cases of dermoid, where we performed laparoscopic detorsion with dermoid cystectomy and ovarian preservation in the same sitting. In three cases of chronic torsion who presented to us late, we could not preserve the ovary and had to resort to salpingo-ophorectomy. Histology showed a simple corpus luteal and follicular ovarian cyst in 31 cases, a paraovarian cyst in 5 cases with mature teratoma in 7 cases. Twenty-five patients with ovarian preservation following detorsion were subjected to

  16. A High-Grade Chondrosarcoma of Calcaneum Mimicking as a Benign Pathology: Delayed Diagnosis and Management.

    Science.gov (United States)

    Baba, Muzamil Ahmad; Nazir, Naila; Shabeer, Maajid; Mir, Bashir Ahmed; Kawoosa, Altaf Ahmad

    2016-10-01

    This case is presented to highlight a rare case of chondrosarcoma of calcaneum in a young adult mimicking as a benign pathology and to highlight the diagnosis and early management of such cases to prevent complications and even death. Chondrosarcoma constitutes less than 10% of all primary malignancies of bone and occurs mostly in proximal locations such as pelvis, proximal femur, and proximal humerus. We present a case of high-grade chondrosarcoma at a very rare site, calcaneum of a 40-year-old male that was mimicking as a benign pathology. This case report highlights the importance of proper clinical examination, evaluation, and suspicion for benign occurring lesions to prevent complications related to a delay in diagnosis. Therapeutic, Level IV: Case study. © 2016 The Author(s).

  17. Basal cell carcinoma of the skin (part 1): epidemiology, pathology and genetic syndromes.

    Science.gov (United States)

    Correia de Sá, Tiago Ribeiro; Silva, Roberto; Lopes, José Manuel

    2015-11-01

    Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis. BCC associate with several genetic syndromes, of which basal cell nevus syndrome is the most common.

  18. Biosafety Management of Genetically Modified Crops (China) | IDRC ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Biosafety Management of Genetically Modified Crops (China). Since 1990, China's ... Country(s). China, Far East Asia, Central Asia, South Asia ... Call for new OWSD Fellowships for Early Career Women Scientists now open. In partnership ...

  19. Pharmacological management of traumatic brain injury and implications for speech language pathology.

    Science.gov (United States)

    Rivera, José O

    2014-08-01

    This article provides an overview of the pharmacological management of traumatic brain injury (TBI). A basic introduction to key pharmacokinetic and pharmacodynamic principles is used to guide the reader. The goals of the pharmacological management of TBI are explained starting with mild TBI. The main medications used for each medical condition are described with a primary emphasis of effects that may interfere with the role of speech-language pathology (SLP). Some medications may interfere with cognitive, motor, and neuromuscular functions, and others may cause ototoxicity. A basic overview of the pharmacological management of moderate to severe TBI is included because the SLP practitioner may encounter patients with TBI during the recovery phase. The importance of assessment of swallowing evaluations is discussed because the oral route of administration of medications is preferred once the patient is stable. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  20. An 8-week stress management program in pathological gamblers: a pilot randomized controlled trial.

    Science.gov (United States)

    Linardatou, C; Parios, A; Varvogli, L; Chrousos, G; Darviri, C

    2014-09-01

    Stress plays a major role at the onset and relapse of pathological gambling (PG), but at the same time it can also be the aftermath of gambling behavior, thus revealing a reciprocal relationship. Although the role of stress has been well-documented, there is a paucity of studies investigating the effect of an adjunctive stress management program on PG. In this 8-week parallel randomized waitlist controlled trial pathological gamblers, already in the gamblers anonymous (GA) group, were assigned randomly in two groups, with the intervention group (n = 22) receiving an additional stress management program (consisting of education on diet and exercise, stress coping methods, relaxation breathing -RB- and progressive muscle relaxation -PMR). Self-reported measures were used in order to evaluate stress, depression, anxiety, sleep quality/disturbances, life-satisfaction and daily routine. The statistical analyses for the between group differences concerning the main psychosocial study outcomes revealed a statistically significant amelioration of stress, depression, anxiety symptoms and an increase of life-satisfaction and a better daily routine in participants of the intervention group. We hope that these will encourage researchers and clinicians to adopt stress management in their future work. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. [Dilated cardiomyopathy (DCM) in dogs--pathological, clinical, diagnosis and genetic aspects].

    Science.gov (United States)

    Broschk, C; Distl, O

    2005-10-01

    Dilated cardiomyopathy (DCM) is a heart disease which is often found in humans and animals. The age of onset of this progressive disease varies between 3 and 7 years of age. A juvenile form of DCM has been found in Portuguese Water Dogs and Doberman Pinscher Dogs. Some breeds such as Doberman pinscher, Newfoundland, Portuguese Water dog, Boxer, Great Dane, Cocker Spaniel and Irish Wolfhound exhibit a higher prevalence to DCM. There also seems to be a sex predisposition as male dogs are affected more often than female dogs and in Great Danes an X-linked recessive inheritance is likely. In Newfoundland and Boxer an autosomal dominant inheritance was found whereas an autosomal recessive inheritance was described in Portuguese Water Dogs. Atrial fibrillation as a cause or consequence of DCM is assumed for certain breeds. The causes of DCM are widely unknown in dogs. A genetic basis for this heart disease seems to exist. Apart from a few exceptions the mode of inheritance and the possible underlying gene mutations are not known for DCM in dogs. In humans mutations in several genes responsible for DCM have been identified. Comparative genetic analyses in dogs using genes causing DCM in men and a genome-wide scan with anonymus markers were not able to detect causative mutations or genomic regions harboring gene loci linked to DCM. The investigation of the genetic basis of canine DCM may lead to new insights into the pathogenesis of DCM and may result in new therapeutic approaches and breeding strategies.

  2. Paravertebral Well-Differentiated Liposarcoma with Low-Grade Osteosarcomatous Component: Case Report with 11-Year Follow-Up, Radiological, Pathological, and Genetic Data, and Literature Review

    Directory of Open Access Journals (Sweden)

    Nicolas Macagno

    2017-01-01

    Full Text Available Despite being one of the most frequent soft-tissue sarcomas, well-differentiated liposarcoma has never been reported near the spine. The authors present the case of a 67-year-old man with progressive history of back pain. Physical examination revealed a mass located within the right paravertebral muscles. MR and CT imaging showed a heavily ossified central mass surrounded by a peripheral fatty component. No connection with the underlying bone was detected on imagery and during surgery. After surgical resection, histopathological examination revealed a tumor harboring combined features of well-differentiated liposarcoma and low-grade osteosarcoma. Tumor cells displayed overexpression of MDM2, CDK4, and P16 by immunohistochemistry and CGH revealed amplification of 12q13-15 as the only genetic imbalance. MDM2 FISH analysis was performed but was inconclusive. The pathological, immunohistochemical, and genetic features, the differential diagnoses, and the therapeutic management of this unusual tumor are discussed. No complementary treatment was performed initially. Following first treatment, two recurrences occurred 6 and 9 years later, both displaying histological features similar to the first occurrence. Radiotherapy was started after the second recurrence. Follow-up shows no evidence of disease 11 years after initial diagnosis. This case was unusual due to the paravertebral location of the tumor and its divergent differentiation.

  3. Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

    Directory of Open Access Journals (Sweden)

    Julie M. Barkmeier-Kraemer

    2017-09-01

    Full Text Available Background: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech–language pathologists (SLPs play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations.Methods: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1 hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington’s Disease, myoclonus; and evaluation/treatment terms: 2 Speech–Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis.Results: The standard SLP clinical speech and swallowing evaluation of chorea/Huntington’s disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1 case history; 2 examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment; 3 evaluation of speech characteristics; and 4 patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation.Discussion: SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and

  4. Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

    Science.gov (United States)

    Barkmeier-Kraemer, Julie M.; Clark, Heather M.

    2017-01-01

    Background Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech–language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. Methods A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1) hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington’s Disease, myoclonus; and evaluation/treatment terms: 2) Speech–Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis. Results The standard SLP clinical speech and swallowing evaluation of chorea/Huntington’s disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1) case history; 2) examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment); 3) evaluation of speech characteristics; and 4) patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation. Discussion SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and deglutition

  5. Genetic and Pathological Follow-Up Study of Goats Experimentally and Naturally Exposed to a Sheep Scrapie Isolate

    Science.gov (United States)

    Maestrale, Caterina; Cancedda, Maria G.; Pintus, Davide; Masia, Mariangela; Nonno, Romolo; Ru, Giuseppe; Carta, Antonello; Demontis, Francesca; Santucciu, Cinzia

    2015-01-01

    ABSTRACT Thirty-seven goats carrying different prion protein genotypes (PRNP) were orally infected with a classical scrapie brain homogenate from wild-type (ARQ/ARQ) sheep and then mated to obtain 2 additional generations of offspring, which were kept in the same environment and allowed to be naturally exposed to scrapie. Occurrence of clinical or subclinical scrapie was observed in the experimentally infected goats (F0) and in only one (F1b) of the naturally exposed offspring groups. In both groups (F0 and F1b), goats carrying the R154H, H154H, R211Q, and P168Q-P240P dimorphisms died of scrapie after a longer incubation period than wild-type, G37V, Q168Q-P240P, and S240P goats. In contrast, D145D and Q222K goats were resistant to infection. The immunobiochemical signature of the scrapie isolate and its pathological aspects observed in the sheep donors were substantially maintained over 2 goat generations, i.e., after experimental and natural transmission. This demonstrates that the prion protein gene sequence, which is shared by sheep and goats, is more powerful than any possible but unknown species-related factors in determining scrapie phenotypes. With regard to genetics, our study confirms that the K222 mutation protects goats even against ovine scrapie isolates, and for the first time, a possible association of D145 mutation with scrapie resistance is shown. In addition, it is possible that the sole diverse frequencies of these genetic variants might, at least in part, shape the prevalence of scrapie among naturally exposed progenies in affected herds. IMPORTANCE This study was aimed at investigating the genetic and pathological features characterizing sheep-to-goat transmission of scrapie. We show that in goats with different prion protein gene mutations, the K222 genetic variant is associated with scrapie resistance after natural and experimental exposure to ovine prion infectivity. In addition, we observed for the first time a protective effect of the D145

  6. Clinical pathological and genetic analysis of 2 cases of mitochondrial myopathy presented as acute motor axonal neuropathy

    Directory of Open Access Journals (Sweden)

    Hou-min YIN

    2014-06-01

    Full Text Available Background The main clinical manifestations of mitochondrial myopathy are chronic limb weakness and muscular soreness. Subclinical peripheral nerve injury is also reported, but acute axonal neuropathy.like syndrome concurrent with lactic acidosis is rare. In this paper the clinical features of 2 patients presenting as acute lactic acidosis and sudden muscle weakness were analyzed. Pathological changes and genetic mutations were detected.  Methods Electromyography (EMG and muscle biopsy were performed. Modified Gomori trichrome (MGT and succinodehydrogenase (SDH staining were used to identify pathological changes. Changes of ultra microstructure of muscular tissue were observed under electron microscope. Mitochondrial DNA (mtDNA full length sequencing was performed using 24 pairs of partially overlapping primers.  Results EMG showed a coexistence of neurogenic and myogenic changes. Dramatic decrease of motor nerve amplitude and moderately reduced sensory nerve amplitude were observed but nerve conduction velocity was normal in both patients. Impressive ragged red fibers were seen on MGT staining. Electron microscope showed dramatic mitochondrial abnormalities in Case 1 and paracrystaline inclusions in Case 2. mtDNA sequencing showed 3243A > G mutation in Case 1 and 8344A > G mutation in Case 2. Conclusions Mitochondrial myopathy can present as metabolic crisis like acute lactic acidosis, dyspnea and acute motor axonal neuropathy.like syndrome. It is a life.threatening phenotype that needs more attention. doi: 10.3969/j.issn.1672-6731.2014.06.007

  7. Forest Genetic Resources Conservation and Management

    DEFF Research Database (Denmark)

    Ukendt, FAO; Ukendt, DFSC; Ukendt, ICRAF

    FAO, IPGRI/SAFORGEN, DFSCand ICRAF have cooperated on the compilation of17 booklets on the state of Forest Genetic Resources for thecountries listed below. When ordering your book please remember to write the country required on the email. Benin, Burkina Faso, Cote d\\Ivoire, Ethiopia, Gambia......, Guinee, Ghana, Kenya, Mali, Mauritania, Niger, North of Nigeria, North Cameroon, Senegal, Sudan, Tchad and Togo....

  8. Etiology, pathology, management and prognosis of chronic pancreatitis in Chinese population: A retrospective study.

    Science.gov (United States)

    Camara, Soriba Naby; Ramdany, Sonam; Zhao, Gang; Gou, Shan-Miao; Xiong, Jiong-Xin; Yang, Zhi-Yong; Yin, Tao; Yang, Ming; Balde, Oumar Taibata; Barry, Ahmed Boubacar; Adji, Seid; Li, Xiang; Jin, Yan; Wu, He-Shui; Wang, Chun-You

    2015-06-01

    The purpose of this study was to investigate the etiology, pathological characteristics, management and prognosis of chronic pancreatitis in the Chinese population. The clinical data of 142 patients with chronic pancreatitis were retrospectively studied. All patients were of Chinese nationality and hospitalized from January 2008 to December 2011. Their ages ranged from 14 to 76 years, with a mean of 43 years. Of 142 patients, there were 72 cases of obstructive chronic pancreatitis (50.70%), 19 cases of alcoholic chronic pancreatitis (13.38%), 14 cases of autoimmune pancreatitis (9.86%) and 37 cases of undetermined etiology (26.06%). Pathologically, the average inflammatory mass diameter was 3.8 ± 3.3 cm, biliary obstruction occurred in 36 cases, gall stones in 70 cases, calcification in 88 cases, ductal dilatation in 61 cases, side branch dilatation in 32 cases, ductal irregularity in 10 cases, lymphocytic inflammation in 23 cases, obliterative phlebitis in 14 cases, extra pancreatic lesion in 19 cases and fibrosis in 142 cases. Location of pancreatic lesion in the region of head (n=97), neck (n=16), body (n=12), tail (n=15) and whole pancreas (n=2) influenced the choice of surgical procedures. Ninety-four patients (66.20%) received surgical treatment and 33.80% received other treatments. After operation, 80.85% of 94 patients experienced decreased pain, and 8.51% of 94 showed recovery of endocrine function but with a complication rate of 12.77%. All the operations were performed successfully. According to the pain scale of European Organization for Research and Treatment of Cancer (QLQ-C30) a decrease from 76 ± 22 to 14 ± 18 was observed. Etiology, pathological characteristics, management and prognosis of chronic pancreatitis in the Chinese population vary from others.

  9. Integration of scanned document management with the anatomic pathology laboratory information system: analysis of benefits.

    Science.gov (United States)

    Schmidt, Rodney A; Simmons, Kim; Grimm, Erin E; Middlebrooks, Michael; Changchien, Rosy

    2006-11-01

    Electronic document management systems (EDMSs) have the potential to improve the efficiency of anatomic pathology laboratories. We implemented a novel but simple EDMS for scanned documents as part of our laboratory information system (AP-LIS) and collected cost-benefit data with the intention of discerning the value of such a system in general and whether integration with the AP-LIS is advantageous. We found that the direct financial benefits are modest but the indirect and intangible benefits are large. Benefits of time savings and access to data particularly accrued to pathologists and residents (3.8 h/d saved for 26 pathologists and residents). Integrating the scanned document management system (SDMS) into the AP-LIS has major advantages in terms of workflow and overall simplicity. This simple, integrated SDMS is an excellent value in a practice like ours, and many of the benefits likely apply in other practice settings.

  10. Arsenic-Induced Genotoxicity and Genetic Susceptibility to Arsenic-Related Pathologies

    Directory of Open Access Journals (Sweden)

    Fabrizio Bianchi

    2013-04-01

    Full Text Available The arsenic (As exposure represents an important problem in many parts of the World. Indeed, it is estimated that over 100 million individuals are exposed to arsenic, mainly through a contamination of groundwaters. Chronic exposure to As is associated with adverse effects on human health such as cancers, cardiovascular diseases, neurological diseases and the rate of morbidity and mortality in populations exposed is alarming. The purpose of this review is to summarize the genotoxic effects of As in the cells as well as to discuss the importance of signaling and repair of arsenic-induced DNA damage. The current knowledge of specific polymorphisms in candidate genes that confer susceptibility to arsenic exposure is also reviewed. We also discuss the perspectives offered by the determination of biological markers of early effect on health, incorporating genetic polymorphisms, with biomarkers for exposure to better evaluate exposure-response clinical relationships as well as to develop novel preventative strategies for arsenic- health effects.

  11. A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

    DEFF Research Database (Denmark)

    Lashley, Tammaryn; Rohrer, Jonathan D; Bandopadhyay, Rina

    2011-01-01

    Neuronal intermediate filament inclusion disease and atypical frontotemporal lobar degeneration are rare diseases characterized by ubiquitin-positive inclusions lacking transactive response DNA-binding protein-43 and tau. Recently, mutations in the fused in sarcoma gene have been shown to cause...... findings, as well as genetic and biochemical data in 14 fused in sarcoma proteinopathy cases. In this cohort, the age of onset was variable but included cases of young-onset disease. Patients with atypical frontotemporal lobar degeneration with ubiquitinated inclusions all presented with behavioural...... familial amyotrophic lateral sclerosis and fused in sarcoma-positive neuronal inclusions have subsequently been demonstrated in neuronal intermediate filament inclusion disease and atypical frontotemporal lobar degeneration with ubiquitinated inclusions. Here we provide clinical, imaging, morphological...

  12. Pathology and genetic findings in a rare case of Mycobacterium caprae infection in a sow.

    Science.gov (United States)

    Amato, Benedetta; Capucchio, Teresa Maria; Biasibetti, Elena; Mangano, Elena; Boniotti, Beatrice Maria; Pacciarini, Lodovica Maria; Migliore, Sergio; Vitale, Maria; Fiasconaro, Michele; Di Marco Lo Presti, Vincenzo

    2017-06-01

    Bovine tuberculosis, a reemerging zoonosis in diverse ecological scenarios, has been reported in the autochthonous Nebrodi black pig breed population used for meat production in Italy. During a routine abattoir inspection in 2013, 24 of 299 carcasses (8%) of Nebrodi black pigs presented tuberculosis-like lesions at pathologic examination. Mycobacterium bovis was isolated from 23 animals and M. caprae from a 3-year-old sow. The sow showed severe diffuse lesions involving the visceral organs, right coxofemoral joint, and mammary glands. Isolation of M. caprae from mammary glands is uncommon, with only one other case involving a sow reported so far; however, Mycobacteria infection of the mammary glands may be transmitted from lactating sows to piglets, contributing to the spread and maintenance of bovine tuberculosis in swine. Genotyping analysis showed M. caprae spoligotype SB0866 and profile 4,1,5,4,4,11,4,2,4,3,8,7 MIRU-VNTR (mycobacterial interspersed repetitive units-variable number of tandem repeats). The worldwide prevalence of this spoligotype is very low. The finding of severe, diffuse tuberculous lesions strongly suggests that Nebrodi black pigs are susceptible for Mycobacterium spp. and that they might act as a distributor for these microorganisms. Since natural ecosystems with multiple contacts among different livestock species and wild animals are very common in Mediterranean regions, current surveillance and eradication plans for bovine tuberculosis will need to be extended to other potential reservoir species in regions where extensive and traditional breeding systems are operated. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  13. A call for tiger management using "reserves" of genetic diversity.

    Science.gov (United States)

    Bay, Rachael A; Ramakrishnan, Uma; Hadly, Elizabeth A

    2014-01-01

    Tigers (Panthera tigris), like many large carnivores, are threatened by anthropogenic impacts, primarily habitat loss and poaching. Current conservation plans for tigers focus on population expansion, with the goal of doubling census size in the next 10 years. Previous studies have shown that because the demographic decline was recent, tiger populations still retain a large amount of genetic diversity. Although maintaining this diversity is extremely important to avoid deleterious effects of inbreeding, management plans have yet to consider predictive genetic models. We used coalescent simulations based on previously sequenced mitochondrial fragments (n = 125) from 5 of 6 extant subspecies to predict the population growth needed to maintain current genetic diversity over the next 150 years. We found that the level of gene flow between populations has a large effect on the local population growth necessary to maintain genetic diversity, without which tigers may face decreases in fitness. In the absence of gene flow, we demonstrate that maintaining genetic diversity is impossible based on known demographic parameters for the species. Thus, managing for the genetic diversity of the species should be prioritized over the riskier preservation of distinct subspecies. These predictive simulations provide unique management insights, hitherto not possible using existing analytical methods.

  14. Management of nonpalpable lesions and microcalcifications in the breast pathology. Period: January to June / 2008

    International Nuclear Information System (INIS)

    Valdes, Zodilina; Diaz, Tatiana; Serres, Margarita D; Rubio, Maria C; Sanchez, Idania; Acosta, Arnaldo

    2009-01-01

    We performed a prospective, descriptive cross-sectional becoming known the management of patients operated at the Institute of Oncology which was diagnosed nonpalpable mammographic lesion and / or pathological microcalcifications. The universe made up of patients operated by staff Mastology Service during period from January to June / 2008. Operated patients were fitted by age groups and findings. Results. The patients were female, average age 55 years and mainly associated with chronic hypertension, 11 patients reported no family history of cancer. The reason for consulting the patients was 45% for mastalgia. Marking used in 65% was the harpoon. Studies were performed the piece surgery in 95% and the results were satisfactory. The incision radio is the most used surgical procedure, representing 60%. It was found in the same proportion of carcinomas situ and biopsies negative for malignancy and atypical hyperplasia in 20% of our cases and 25% predominant infiltrating ductal carcinoma. (Author)

  15. GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.

    Science.gov (United States)

    Muthupalani, Sureshkumar; Torres, Paola A; Wang, Betty C; Zeng, Bai Jin; Eaton, Samuel; Erdelyi, Ildiko; Ducore, Rebecca; Maganti, Rajanikarath; Keating, John; Perry, Bain J; Tseng, Florina S; Waliszewski, Nicole; Pokras, Mark; Causey, Robert; Seger, Rita; March, Philip; Tidwell, Amy; Pfannl, Rolf; Seyfried, Thomas; Kolodny, Edwin H; Alroy, Joseph

    2014-04-01

    G(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal β-galactosidase. We have identified seven American black bears (Ursus americanus) found in the Northeast United States suffering from G(M1)-gangliosidosis. This report describes the clinical features, brain MRI, and morphologic, biochemical and molecular genetic findings in the affected bears. Brain lipids were compared with those in the brain of a G(M1)-mouse. The bears presented at ages 10-14 months in poor clinical condition, lethargic, tremulous and ataxic. They continued to decline and were humanely euthanized. The T(2)-weighted MR images of the brain of one bear disclosed white matter hyperintensity. Morphological studies of the brain from five of the bears revealed enlarged neurons with foamy cytoplasm containing granules. Axonal spheroids were present in white matter. Electron microscopic examination revealed lamellated membrane structures within neurons. Cytoplasmic vacuoles were found in the liver, kidneys and chondrocytes and foamy macrophages within the lungs. Acid β-galactosidase activity in cultured skin fibroblasts was only 1-2% of control values. In the brain, ganglioside-bound sialic acid was increased more than 2-fold with G(M1)-ganglioside predominating. G(A1) content was also increased whereas cerebrosides and sulfatides were markedly decreased. The distribution of gangliosides was similar to that in the G(M1)-mouse brain, but the loss of myelin lipids was greater in the brain of the affected bear than in the brain of the G(M1) mouse. Isolated full-length cDNA of the black bear GLB1 gene revealed 86% homology to its human counterpart in nucleotide sequence and 82% in amino acid sequence. GLB1 cDNA from liver tissue of an affected bear contained a homozygous recessive T(1042) to C transition inducing a Tyr348 to His mutation (Y348H) within a highly conserved region of the GLB1 gene. The coincidence of several

  16. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

    Science.gov (United States)

    Iacovazzo, Donato; Caswell, Richard; Bunce, Benjamin; Jose, Sian; Yuan, Bo; Hernández-Ramírez, Laura C; Kapur, Sonal; Caimari, Francisca; Evanson, Jane; Ferraù, Francesco; Dang, Mary N; Gabrovska, Plamena; Larkin, Sarah J; Ansorge, Olaf; Rodd, Celia; Vance, Mary L; Ramírez-Renteria, Claudia; Mercado, Moisés; Goldstone, Anthony P; Buchfelder, Michael; Burren, Christine P; Gurlek, Alper; Dutta, Pinaki; Choong, Catherine S; Cheetham, Timothy; Trivellin, Giampaolo; Stratakis, Constantine A; Lopes, Maria-Beatriz; Grossman, Ashley B; Trouillas, Jacqueline; Lupski, James R; Ellard, Sian; Sampson, Julian R; Roncaroli, Federico; Korbonits, Márta

    2016-06-01

    Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly.We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants.We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes in found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic of familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases.In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101

  17. Biochemical genetics in marine fisheries management and conservation

    Digital Repository Service at National Institute of Oceanography (India)

    Menezes, M.R.

    - 403004 NBDBlDBTSponsored Training on Taxonomy, GOIdia turd Gme Bturking o/Coastal and Marine Bloresources, CIFE, Mumbal BIOCHEMICAL GENETICS IN MARINE FISHERIES MANAGEMENT AND CONSERVATION Maria R. Menezes Introduction . Species of fish, like most... population structure may have evolved and been maintained in species of fish ofeconomic interest has led to the concept of 'stock'. The stock concept dominates much of marine fisheries management, theory and practice because the identification of discrete...

  18. Broadening the application of evolutionarily based genetic pest management.

    Science.gov (United States)

    Gould, Fred

    2008-02-01

    Insect- and tick-vectored diseases such as malaria, dengue fever, and Lyme disease cause human suffering, and current approaches for prevention are not adequate. Invasive plants and animals such as Scotch broom, zebra mussels, and gypsy moths continue to cause environmental damage and economic losses in agriculture and forestry. Rodents transmit diseases and cause major pre- and postharvest losses, especially in less affluent countries. Each of these problems might benefit from the developing field of Genetic Pest Management that is conceptually based on principles of evolutionary biology. This article briefly describes the history of this field, new molecular tools in this field, and potential applications of those tools. There will be a need for evolutionary biologists to interact with researchers and practitioners in a variety of other fields to determine the most appropriate targets for genetic pest management, the most appropriate methods for specific targets, and the potential of natural selection to diminish the effectiveness of genetic pest management. In addition to producing environmentally sustainable pest management solutions, research efforts in this area could lead to new insights about the evolution of selfish genetic elements in natural systems and will provide students with the opportunity to develop a more sophisticated understanding of the role of evolutionary biology in solving societal problems.

  19. Application of genetic algorithm in reactor fuel management

    International Nuclear Information System (INIS)

    Peng Gang

    2002-01-01

    The genetic algorithm (GA) has been used in reactor fuel management of core arrangement optimal calculation. The chromosome coding method has been selected, and the parameters in GA operators have been improved, so the quality and efficiency of calculation in GA program have been greatly improved. According to the result, better core fuel position arrangement can be obtained from the GA calculation

  20. The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

    Science.gov (United States)

    Slodki, Maciej; Szymkiewicz-Dangel, Joanna; Tobota, Zdzislaw; Seligman, Neil S; Weiner, Stuart; Respondek-Liberska, Maria

    2012-05-01

    We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management. © 2012 John Wiley & Sons, Ltd.

  1. Pathologic analysis of control plans for air pollution management in tehran metropolis: a qualitative study.

    Science.gov (United States)

    Shahrabi, Narges Salehi; Pourezzat, Aliasghar; Ahmad, Fayaz-Bakhsh; Mafimoradi, Shiva; Poursafa, Parinaz

    2013-09-01

    Regarding the importance of air pollution issue for large cities, as Tehran metropolis, many plans, programs, projects and regulations have been developed to manage urban air pollution. However, most of them failed to decline the pollution. The purpose of this study is to pathologically analyze air-pollution control plans in order to offer effective solutions for Tehran metropolis. A qualitative content analysis and a semi-structured interview with 14 practicing professionals were used to identify key causes and sources of Tehran's air pollution, to recognize challenges and obstacles towards effective performance of air-pollution control plans in this metropolitan area, and to suggest the most effective controlling solutions. Challenges related to air-pollution control plans can be divided into two major categories: Firstly lack of integrated and organized stewardship and secondly those related to political, economical, social and technical environmental abbreviated as PEST, challenges. For effective control of the Tehran air pollution, the following eight controlling alternatives were identified: Systematization of plan preparation process, organizing the stewardship, standardization and utilization of new technologies and professional experts, cultural and infrastructural development, realization of social justice, developing coordination and controlling mechanisms, improving citizen's participatory capacity, and focusing on effective management of fuel and energy. Controlling air pollution in Tehran should be considered as a priority for policymakers to make enforcements through applying a systemic cycle of preparation effective and comprehensive plans. Further, implement the enforcements and evaluate the environmental impact of the plans through involving all stakeholders.

  2. iPathology: Robotic Applications and Management of Plants and Plant Diseases

    Directory of Open Access Journals (Sweden)

    Yiannis Ampatzidis

    2017-06-01

    Full Text Available The rapid development of new technologies and the changing landscape of the online world (e.g., Internet of Things (IoT, Internet of All, cloud-based solutions provide a unique opportunity for developing automated and robotic systems for urban farming, agriculture, and forestry. Technological advances in machine vision, global positioning systems, laser technologies, actuators, and mechatronics have enabled the development and implementation of robotic systems and intelligent technologies for precision agriculture. Herein, we present and review robotic applications on plant pathology and management, and emerging agricultural technologies for intra-urban agriculture. Greenhouse advanced management systems and technologies have been greatly developed in the last years, integrating IoT and WSN (Wireless Sensor Network. Machine learning, machine vision, and AI (Artificial Intelligence have been utilized and applied in agriculture for automated and robotic farming. Intelligence technologies, using machine vision/learning, have been developed not only for planting, irrigation, weeding (to some extent, pruning, and harvesting, but also for plant disease detection and identification. However, plant disease detection still represents an intriguing challenge, for both abiotic and biotic stress. Many recognition methods and technologies for identifying plant disease symptoms have been successfully developed; still, the majority of them require a controlled environment for data acquisition to avoid false positives. Machine learning methods (e.g., deep and transfer learning present promising results for improving image processing and plant symptom identification. Nevertheless, diagnostic specificity is a challenge for microorganism control and should drive the development of mechatronics and robotic solutions for disease management.

  3. Genetics and Management of the Patient with Orofacial Cleft

    Directory of Open Access Journals (Sweden)

    Luciano Abreu Brito

    2012-01-01

    Full Text Available Cleft lip or palate (CL/P is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.

  4. Managing chronic pathologies with a stepped mHealth-based approach in clinical psychology and medicine

    Directory of Open Access Journals (Sweden)

    Gianluca eCastelnuovo

    2015-04-01

    Full Text Available Chronic diseases and conditions typically require long-term monitoring and treatment protocols both in traditional settings and in out-patient frameworks. The economic burden of chronic conditions is a key challenge and new and mobile technologies could offer good solutions. mHealth could be considered an evolution of ehealth and could be defined as the practice of medicine and public health supported by mobile communication devices. mHealth approach could overcome limitations linked with the traditional, restricted and highly expensive in-patient treatment of many chronic pathologies. Possible applications include stepped mHealth approach, where patients can be monitored and treated in their everyday contexts. Unfortunately, many barriers for the spread of mHealth are still present. Due the significant impact of psychosocial factors on disease evolution, psychotherapies have to be included into the chronic disease protocols. Existing psychological theories of health behavior change have to be adapted to the new technological contexts and requirements. In conclusion, clinical psychology and medicine have to face the chronic care management challenge in both traditional and mHealth settings.

  5. Efficiency in pathology laboratories: a survey of operations management in NHS bacteriology.

    Science.gov (United States)

    Szczepura, A K

    1991-01-01

    In recent years pathology laboratory services in the U.K. have experienced large increases in demand. But the extent to which U.K. laboratories have introduced controls to limit unnecessary procedures within the laboratory was previously unclear. This paper presents the results of a survey of all 343 NHS bacteriology laboratories which records the extent to which such operations management controls are now in place. The survey shows large differences between laboratories. Quality controls over inputs, the use of screening tests as a culture substitute, the use of direct susceptibility testing, controls over routine antibiotic susceptibility testing, and controls over reporting of results all vary widely. The survey also records the prevalence of hospital antibiotic policies, the extent to which laboratories produce antibiograms for user clinicians, the degree of computerisation in data handling, and the degree of automation in processing specimens. Finally, the survey uncovers a large variation between NHS labs in the percentage of bacteriology samples which prove positive and lead to antibiotic susceptibility tests being carried out.

  6. Splenic marginal zone lymphoma: a review of the clinical presentation, pathology, molecular biology, and management

    Directory of Open Access Journals (Sweden)

    Teixeira Mendes LS

    2014-07-01

    Full Text Available Larissa Sena Teixeira Mendes,1 Ming-Qing Du,2 Estella Matutes,3 Andrew Wotherspoon11Histopathology Department, Royal Marsden Hospital, London, UK; 2Molecular Malignancy Laboratory and Department of Histopathology, University Hospital NHS Foundation Trust/Division of Molecular Histopathology, Department of Pathology, University of Cambridge, Cambridge, UK; 3Hematopathology Unit, Hospital Clinic, Barcelona University, Barcelona, Spain Abstract: Splenic marginal zone lymphoma is a distinct low grade B-cell lymphoma primarily occurring in the spleen and separate from nodal marginal zone lymphoma and extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue. It is characterized by a relative indolent course, splenomegaly, moderate lymphocytosis, and an intrasinusoidal pattern of involvement, especially in the bone marrow. It is postulated that the neoplastic clone originates from persistent antigenic stimulation of marginal zone B-cells. Molecular and cytogenetic studies have failed to show specific alterations. There is no standard criterion to initiate treatment, which may include a watch and wait policy, splenectomy, or chemo/immunotherapy. This review highlights the main features of this entity, reassessing the guidelines for diagnosis, prognostic factors, staging, and management published by the SMZL Working Group (2008. Keywords: splenectomy, villous lymphocytes, guidelines

  7. Pathologic analysis of control plans for air pollution management in tehran metropolis: A qualitative study

    Directory of Open Access Journals (Sweden)

    Narges Salehi Shahrabi

    2013-01-01

    Full Text Available Background: Regarding the importance of air pollution issue for large cities, as Tehran metropolis, many plans, programs, projects and regulations have been developed to manage urban air pollution. However, most of them failed to decline the pollution. The purpose of this study is to pathologically analyze air-pollution control plans in order to offer effective solutions for Tehran metropolis. Methods: A qualitative content analysis and a semi-structured interview with 14 practicing professionals were used to identify key causes and sources of Tehran′s air pollution, to recognize challenges and obstacles towards effective performance of air-pollution control plans in this metropolitan area, and to suggest the most effective controlling solutions. Results: Challenges related to air-pollution control plans can be divided into two major categories: Firstly lack of integrated and organized stewardship and secondly those related to political, economical, social and technical environmental abbreviated as PEST, challenges. For effective control of the Tehran air pollution, the following eight controlling alternatives were identified: Systematization of plan preparation process, organizing the stewardship, standardization and utilization of new technologies and professional experts, cultural and infrastructural development, realization of social justice, developing coordination and controlling mechanisms, improving citizen′s participatory capacity, and focusing on effective management of fuel and energy. Conclusions: Controlling air pollution in Tehran should be considered as a priority for policymakers to make enforcements through applying a systemic cycle of preparation effective and comprehensive plans. Further, implement the enforcements and evaluate the environmental impact of the plans through involving all stakeholders.

  8. Genetic variability of six French meat sheep breeds in relation to their genetic management.

    Science.gov (United States)

    Huby, Marie; Griffon, Laurent; Moureaux, Sophie; De Rochambeau, Hubert; Danchin-Burge, Coralie; Verrier, Etienne

    2003-01-01

    Some demographic parameters, the genetic structure and the evolution of the genetic variability of six French meat sheep breeds were analysed in relation with their management. Four of these breeds are submitted to more or less intense selection: the Berrichon du Cher (BCH), Blanc du Massif Central (BMC), Charollais (CHA) and Limousin (LIM); the other two breeds are under conservation: the Roussin de La Hague (RLH) and Solognot (SOL). Genealogical data of the recorded animals born from 1970 to 2000 and of their known ancestors were used. The most balanced contributions of the different flocks to the sire-daughter path was found in the SOL. In the BCH, a single flock provided 43% of the sire-AI sire path, whereas the contributions of the flocks were more balanced in the BMC and LIM (the only other breeds where AI is used to a substantial amount). The distribution of the expected genetic contribution of the founder animals was found to be unbalanced, especially in the BCH and LIM. The effective numbers of ancestors (founders or not) for the ewes born from 1996 to 2000 were equal to 35 (BCH), 144 (BMC), 112 (CHA), 69 (LIM), 40 (RLH) and 49 (SOL). Inbreeding was not analysed in the BMC, due to incomplete pedigree information. From 1980 on, the rates of inbreeding, in percentage points per year, were +0.112 (BCH), +0.045 (CHA), +0.036 (LIM), +0.098 (RLH) and +0.062 (SOL). The implications of the observed trends on genetic variability are discussed in relation to the genetic management of each breed. The need for a larger selection basis in the BCH, the efficiency of the rules applied in the SOL to preserve the genetic variability and the need for a more collective organisation in the CHA and RLH are outlined.

  9. Genetic variability of six French meat sheep breeds in relation to their genetic management

    Directory of Open Access Journals (Sweden)

    Coralie Danchin-Burge

    2003-11-01

    Full Text Available Abstract Some demographic parameters, the genetic structure and the evolution of the genetic variability of six French meat sheep breeds were analysed in relation with their management. Four of these breeds are submitted to more or less intense selection: the Berrichon du Cher (BCH, Blanc du Massif Central (BMC, Charollais (CHA and Limousin (LIM; the other two breeds are under conservation: the Roussin de La Hague (RLH and Solognot (SOL. Genealogical data of the recorded animals born from 1970 to 2000 and of their known ancestors were used. The most balanced contributions of the different flocks to the sire-daughter path was found in the SOL. In the BCH, a single flock provided 43% of the sire-AI sire path, whereas the contributions of the flocks were more balanced in the BMC and LIM (the only other breeds where AI is used to a substantial amount. The distribution of the expected genetic contribution of the founder animals was found to be unbalanced, especially in the BCH and LIM. The effective numbers of ancestors (founders or not for the ewes born from 1996 to 2000 were equal to 35 (BCH, 144 (BMC, 112 (CHA, 69 (LIM, 40 (RLH and 49 (SOL. Inbreeding was not analysed in the BMC, due to incomplete pedigree information. From 1980 on, the rates of inbreeding, in percentage points per year, were +0.112 (BCH, +0.045 (CHA, +0.036 (LIM, +0.098 (RLH and +0.062 (SOL. The implications of the observed trends on genetic variability are discussed in relation to the genetic management of each breed. The need for a larger selection basis in the BCH, the efficiency of the rules applied in the SOL to preserve the genetic variability and the need for a more collective organisation in the CHA and RLH are outlined.

  10. Non-Hodgkin's lymphoma - Part I: Etiology, pathology, diagnostic evaluation and principles of management

    International Nuclear Information System (INIS)

    Gospodarowicz, Mary K.; Sutcliffe, Simon B.

    1997-01-01

    Objective: To review the approach to the diagnosis, classification, assessment, treatment and continuing management of patients with non-Hodgkin's lymphoma with an emphasis on the role of radiation therapy and the management of localized disease. Non-Hodgkin's lymphomas are a diverse group of diseases with an age standardized incidence of approximately 17 per 100,000 population. They become more common with increasing age and frequently involve extranodal sites. A number of potential etiological causes have been defined e.g. congenital and acquired immunodeficiency states, viruses, ionizing radiation, chronic inflammatory diseases and environmental toxins. Management is most influenced by the histological type of lymphoma. Numerous classifications have derived from architectural and cytological observations (Rappaport), concepts involving morphologic and phenotypic characterization of lineage and differentiation (Lukes-Collins, Kiel), and grade in the context of cytological differentiation and prognosis (Working Formulation). The introduction of the REAL classification has characterized clinico-pathological entities within a B-cell, T-cell and Hodgkin's disease framework, and recognized histopathologic grade as a variable within each category. The utility of this approach is likely to increase as disease entities become further defined through karyotypic and genotypic characterization. Stage is the other principal determinant of management. Whilst the Ann Arbor staging classification is employed routinely, its limitations in the context of extranodal disease, characterization of local disease extent and bulk have resulted in the incorporation of additional prognostic factors into management policies. Important prognostic factors include patient-related variables (age, performance status), disease-related attributes (bulk, number of involved nodes, B-symptoms) and biological attributes (LDH, ESR, β-2 macroglobulin, soluble CD-30, proliferation indices). The

  11. Non-Hodgkin's lymphoma - Part I: Etiology, pathology, diagnostic evaluation and principles of management

    International Nuclear Information System (INIS)

    Gospodarowicz, Mary K.; Sutcliffe, Simon B.

    1996-01-01

    Objective: To review the approach to the diagnosis, classification, assessment, treatment and continuing management of patients with non-Hodgkin's lymphoma with an emphasis on the role of radiation therapy and the management of localized disease. Non-Hodgkin's lymphomas are a diverse group of diseases with an age standardized incidence of approximately 17 per 100,000 population. They become more common with increasing age and frequently involve extranodal sites. A number of potential etiological causes have been defined e.g. congenital and acquired immunodeficiency states, viruses, ionizing radiation, chronic inflammatory diseases and environmental toxins. Management is most influenced by the histological type of lymphoma. Numerous classifications have derived from architectural and cytological observations (Rappaport), concepts involving morphologic and phenotypic characterization of lineage and differentiation (Lukes-Collins, Kiel), and grade in the context of cytological differentiation and prognosis (Working Formulation). The introduction of the REAL classification has characterized clinico-pathological entities within a B-cell, T-cell and Hodgkin's disease framework, and recognized histopathologic grade as a variable within each category. The utility of this approach is likely to increase as disease entities become further defined through karyotypic and genotypic characterization. Stage is the other principal determinant of management. Whilst the Ann Arbor staging classification is employed routinely, its limitations in the context of extranodal disease, characterization of local disease extent and bulk have resulted in the incorporation of additional prognostic factors into management policies. Important prognostic factors include patient-related variables (age, performance status), disease-related attributes (bulk, number of involved nodes, B-symptoms) and biological attributes (LDH, ESR, β-2 macroglobulin, soluble CD-30, proliferation indices). The

  12. Bacterial disease management: challenges, experience, innovation and future prospects: Challenges in Bacterial Molecular Plant Pathology.

    Science.gov (United States)

    Sundin, George W; Castiblanco, Luisa F; Yuan, Xiaochen; Zeng, Quan; Yang, Ching-Hong

    2016-12-01

    only identify optimal targets in the pathogens, but also optimal seasonal timings for deployment. Host resistance to effectors must be exploited, carefully and correctly. Are there other candidate genes that could be targeted in transgenic approaches? How can new technologies (CRISPR, TALEN, etc.) be most effectively used to add sustainable disease resistance to existing commercially desirable plant cultivars? We need an insider's perspective on the management of systemic pathogens. In addition to host resistance or reduced sensitivity, are there other methods that can be used to target these pathogen groups? Biological systems are variable. Can biological control strategies be improved for bacterial disease management and be made more predictable in function? The answers to the research foci outlined above are not all available, as will become apparent in this article, but we are heading in the right direction. In this article, we summarize the contributions from past experiences in bacterial disease management, and also describe how advances in bacterial genetics, genomics and host-pathogen interactions are informing novel strategies in virulence inhibition and in host resistance. We also outline potential innovations that could be exploited as the pressures to maximize a safe and productive food supply continue to become more numerous and more complex. © 2016 BSPP and John Wiley & Sons Ltd.

  13. Asset management using genetic algorithm: Evidence from Tehran Stock Exchange

    Directory of Open Access Journals (Sweden)

    Abbas Sarijaloo

    2014-02-01

    Full Text Available This paper presents an empirical investigation to study the effect of market management using Markowitz theorem. The study uses the information of 50 best performers on Tehran Stock Exchange over the period 2006-2009 and, using Markowitz theorem, the efficient asset allocation are determined and the result are analyzed. The proposed model of this paper has been solved using genetic algorithm. The results indicate that Tehran Stock Exchange has managed to perform much better than average world market in most years of studies especially on year 2009. The results of our investigation have also indicated that one could reach outstanding results using GA and forming efficient portfolio.

  14. Comparing 3 guidelines on the management of surgically removed pancreatic cysts with regard to pathological outcome.

    Science.gov (United States)

    Lekkerkerker, Selma J; Besselink, Marc G; Busch, Olivier R; Verheij, Joanne; Engelbrecht, Marc R; Rauws, Erik A; Fockens, Paul; van Hooft, Jeanin E

    2017-05-01

    Currently, 3 guidelines are available for the management of pancreatic cysts. These guidelines vary in their indication for resection of high-risk cysts. We retrospectively compared the final pathologic outcome of surgically removed pancreatic cysts with the indications for resection according to 3 different guidelines. Patients who underwent pancreatic resection were extracted from our prospective pancreatic cyst database (2006-present). The final histopathologic diagnosis was compared with the initial indication for surgery stated by the guidelines of the International Association of Pancreatology (IAP), European Study Group on Cystic tumors of the Pancreas and American Gastroenterological Association (AGA). We considered surgery in retrospect justified for malignancy, high-grade dysplasia, solid pseudopapillary neoplasms, neuroendocrine tumors or symptom improvement. Furthermore, we evaluated the patients with suspected intraductal papillary mucinous neoplasm (IPMN) separately. Overall, 115 patients underwent pancreatic resection. The preoperative diagnosis was correct in 83 of 115 patients (72%) and differentiation between benign and premalignant in 99 of 115 patients (86%). In retrospect, surgery was justified according to the aforementioned criteria in 52 of 115 patients (45%). For patients with suspected IPMN (n = 75) resection was justified in 36 of 67 (54%), 36 of 68 (53%), and 32 of 54 (59%) of patients who would have had surgery based on the IAP, European, or AGA guidelines, respectively. The AGA guideline would have avoided resection in 21 of 75 (28%) patients, versus 8 of 75 (11%) and 7 of 75 (9%) when the IAP or European guideline would have been applied strictly. Nevertheless, 4 of 33 patients (12%) with high-grade dysplasia or malignancy would have been missed with the AGA guidelines, compared with none with the IAP or European guidelines. Although fewer patients undergo unnecessary surgery based on the AGA guidelines, the risk of missing

  15. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

    Directory of Open Access Journals (Sweden)

    Cvelbar Mirjam

    2017-05-01

    Full Text Available In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.

  16. Athletes and the Aorta: Normal Adaptations and the Diagnosis and Management of Pathology.

    Science.gov (United States)

    Stephen Hedley, J; Phelan, Dermot

    2017-10-09

    Over a hundred years ago, physicians first recognized that participation in regular, vigorous training resulted in enlargement of the heart. Since that time, the term "athlete's heart" has entered the medical lexicon as a global expression encompassing the electrical, functional, and morphological adaptations that develop in response to physical training. Exercise-induced adaptations of the aorta, which is also exposed to large hemodynamic stresses during prolonged endurance exercise or resistance training, are less well recognized. Young athletes tend to have slightly larger aortas than their sedentary counterparts; however, this rarely exceeds normal ranges for the general population. A systematic approach is advised when presented with an athlete with aortic enlargement. The size of the aorta needs to be first put in the context of the athlete's age, sex, size, and sporting endeavors; however, even in the largest young athletes, the aortic root rarely exceeds 4 cm in men or 3.4 cm in women. A comprehensive evaluation is advised which includes a detailed family history and a thorough physical examination evaluating for signs of any defined connective tissue disorder associated with aortopathy. Downstream testing is then tailored for the individual and may include further tomographic imaging, opthalmology review, and genetic testing. This should ideally be performed at a specialist center. Management of athletes with an aortopathy includes tailoring athletic activity, medical management with strict impulse control, and, in some cases, prophylactic surgery. The issue of sporting eligibility should be individualized and if disqualification is necessary, this should be undertaken by a sports cardiologist or an expert in aortic disease with experience in dealing with an athletic population.

  17. Translating conservation genetics into management: Pan-European minimum requirements for dynamic conservation units of forest tree genetic diversity

    OpenAIRE

    Koskela, Jarkko; Lefèvre, François; Schueler, Silvio; Kraigher, Hojka; Olrik, Ditte C.; Hubert, Jason; Longauer, Roman; Bozzano, Michele; Yrjänä, Leena; Alizoti, Paraskevi; Rotach, Peter; Vietto, Lorenzo; Bordács, Sándor; Myking, Tor; Eysteinsson, Thröstur

    2013-01-01

    This paper provides a review of theoretical and practical aspects related to genetic management of forest trees. The implementation of international commitments on forest genetic diversity has been slow and partly neglected. Conservation of forest genetic diversity is still riddled with problems, and complexities of national legal and administrative structures. Europe is an example of a complex region where the dis- tribution ranges of tree species extend across large geographical areas with ...

  18. Advances in the Management of Upper Gastrointestinal Subepithelial Tumor: Pathologic Diagnosis Using Endoscopy without Endoscopic Ultrasound-Guided Biopsy

    Directory of Open Access Journals (Sweden)

    Hang Lak Lee

    2016-05-01

    Full Text Available Until now, biopsy methods for subepithelial tumors (SETs have focused on endoscopic ultrasound (EUS-guided biopsy; however, these methods have several limitations. We devised a simple method for pathologic diagnosis of SETs. SETs are occasionally diagnosed during endoscopy, and lesions are generally small and asymptomatic. It can be challenging to decide on a management plan for large asymptomatic SETs. EUS imaging provides information regarding the size, layer, and echo pattern of the lesions. Patient management plans have traditionally been determined based on EUS images, whereby the endoscopist chooses to either monitor or remove the tumor. However, EUS alone cannot diagnose and evaluate upper gastrointestinal SETs with high accuracy. As sufficient tissue samples are required for the accurate diagnosis of SETs, EUS-guided biopsy techniques such as EUS fine-needle aspiration and trucut biopsy are currently used. However, these methods have a relatively low diagnostic accuracy and do not always provide information upon immunohistochemical staining. Endoscopists can easily detect a submucosal mass after creating an iatrogenic mucosal ulcer, after which tissue sampling is performed by using endoscopic biopsy. Furthermore, pathologic results can differentiate between benign and premalignant lesions. Here, we introduce a simple method for the pathologic diagnosis of SETs.

  19. Do host genetic traits in the bacterial sensing system play a role in the development of Chlamydia trachomatis-associated tubal pathology in subfertile women?

    Directory of Open Access Journals (Sweden)

    Ito James I

    2006-07-01

    Full Text Available Abstract Background In women, Chlamydia (C. trachomatis upper genital tract infection can cause distal tubal damage and occlusion, increasing the risk of tubal factor subfertility and ectopic pregnancy. Variations, like single nucleotide polymorphisms (SNPs, in immunologically important host genes are assumed to play a role in the course and outcome of a C. trachomatis infection. We studied whether genetic traits (carrying multiple SNPs in different genes in the bacterial sensing system are associated with an aberrant immune response and subsequently with tubal pathology following a C. trachomatis infection. The genes studied all encode for pattern recognition receptors (PRRs involved in sensing bacterial components. Methods Of 227 subfertile women, serum was available for C. trachomatis IgG antibody testing and genotyping (common versus rare allele of the PRR genes TLR9, TLR4, CD14 and CARD15/NOD2. In all women, a laparoscopy was performed to assess the grade of tubal pathology. Tubal pathology was defined as extensive peri-adnexal adhesions and/or distal occlusion of at least one tube. Results Following a C. trachomatis infection (i.e. C. trachomatis IgG positive, subfertile women carrying two or more SNPs in C. trachomatis PRR genes were at increased risk of tubal pathology compared to women carrying less than two SNPs (73% vs 33% risk. The differences were not statistically significant (P = 0.15, but a trend was observed. Conclusion Carrying multiple SNPs in C. trachomatis PRR genes tends to result in an aberrant immune response and a higher risk of tubal pathology following a C. trachomatis infection. Larger studies are needed to confirm our preliminary findings.

  20. A Required Rotation in Clinical Laboratory Management for Pathology Residents: Five-Year Experience at Hofstra Northwell School of Medicine.

    Science.gov (United States)

    Rishi, Arvind; Hoda, Syed T; Crawford, James M

    2016-01-01

    Leadership and management training during pathology residency have been identified repeatedly by employers as insufficient. A 1-month rotation in clinical laboratory management (CLM) was created for third-year pathology residents. We report on our experience and assess the value of this rotation. The rotation was one-half observational and one-half active. The observational component involved being a member of department and laboratory service line leadership, both at the departmental and institutional level. Observational participation enabled learning of both the content and principles of leadership and management activities. The active half of the rotation was performance of a project intended to advance the strategic trajectory of the department and laboratory service line. In our program that matriculates 4 residents per year, 20 residents participated from April 2010 through December 2015. Their projects either activated a new priority area or helped propel an existing strategic priority forward. Of the 16 resident graduates who had obtained their first employment or a fellowship position, 9 responded to an assessment survey. The majority of respondents (5/9) felt that the rotation significantly contributed to their ability to compete for a fellowship or their first employment position. The top reported benefits of the rotation included people management; communication with staff, departmental, and institutional leadership; and involvement in department and institutional meetings and task groups. Our 5-year experience demonstrates both the successful principles by which the CLM rotation can be established and the high value of this rotation to residency graduates.

  1. Genetic, pathological and physiological determinants of transdermal fentanyl pharmacokinetics in 620 cancer patients of the EPOS study

    DEFF Research Database (Denmark)

    Barratt, Daniel T; Bandak, Benedikte; Klepstad, Pål

    2014-01-01

    This study aimed to investigate whether CYP3A4/5 genetic variants, together with clinical and patient factors, influence serum fentanyl and norfentanyl concentrations and their ratio in cancer pain patients receiving transdermal fentanyl....

  2. Moyamoya disease and syndromes: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Guey S

    2015-02-01

    Full Text Available Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO, Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI, magnetic resonance angiography (MRA conventional angiography, and cerebral hemodynamics measurements

  3. Emerging new tools to study and treat muscle pathologies: genetics and molecular mechanisms underlying skeletal muscle development, regeneration, and disease.

    Science.gov (United States)

    Crist, Colin

    2017-01-01

    Skeletal muscle is the most abundant tissue in our body, is responsible for generating the force required for movement, and is also an important thermogenic organ. Skeletal muscle is an enigmatic tissue because while on the one hand, skeletal muscle regeneration after injury is arguably one of the best-studied stem cell-dependent regenerative processes, on the other hand, skeletal muscle is still subject to many degenerative disorders with few therapeutic options in the clinic. It is important to develop new regenerative medicine-based therapies for skeletal muscle. Future therapeutic strategies should take advantage of rapidly developing technologies enabling the differentiation of skeletal muscle from human pluripotent stem cells, along with precise genome editing, which will go hand in hand with a steady and focused approach to understanding underlying mechanisms of skeletal muscle development, regeneration, and disease. In this review, I focus on highlighting the recent advances that particularly have relied on developmental and molecular biology approaches to understanding muscle development and stem cell function. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  4. Ecology, pathology, and management of Port-Orford-Cedar (Chamaecyparis lawsoniana).

    Science.gov (United States)

    Donald B. Zobel; Lewis F. Roth; Glenn M. Hawk

    1982-01-01

    Information about the biology, diseases, and management of Port-Orford- cedar was collected from the literature, from unpublished research data of the authors and the USDA Forest Service, conversations with personnel involved in all facets of Port-Orford-cedar management, and visits to stands throughout the range of the species. Information is summarized and presented...

  5. 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

  6. Bringing genetic diversity to the forefront of conservation policy and management

    DEFF Research Database (Denmark)

    Hoban, S.M.; Hauffe, H.C.; Pérez-Espona, S.

    2013-01-01

    In this essay we explore questions on how to increase the visibility and utility of genetic information for biodiversity managers and policy makers. This is discussed in the light of Aichi CBD Target 13, which for the first time impels signatories to minimise genetic erosion and safeguard genetic...... genetics. We then discuss the implications of these findings for academics involved in conservation genetics and suggest that a much closer partnership between academic conservation geneticists and conservation practitioners is necessary if the full potential of genetic tools in conservation...

  7. The spectrum of Castleman's disease: Mimics, radiologic pathologic correlation and role of imaging in patient management

    International Nuclear Information System (INIS)

    Madan, Rachna; Chen, Jey-Hsin; Trotman-Dickenson, Beatrice; Jacobson, Francine; Hunsaker, Andetta

    2012-01-01

    Castleman's disease (CD) is a rare benign lymphoid disorder with variable clinical course. The two principal histologic subtypes of CD are hyaline-vascular and plasma cell variants and the major clinicoradiological entities are unicentric and multicentric CD. Management of CD is tailored to clinicoradiologic subtype. In this review, we describe the CT, MR and PET/CT findings in Castleman's disease which can help suggest a diagnosis of CD as well as emphasize role of imaging in management of patients with CD.

  8. Diagnostic value of BI-RADS categories in the management of patients with benign breast pathology

    Directory of Open Access Journals (Sweden)

    G. P. Korzhenkova

    2016-01-01

    Full Text Available Reasonable tactics of management of the patients with breast disease depends of the quality of diagnostics methods. Modern requirements to the methods of diagnosis – a precision, high information value, accessibility. In the article BI-RADS (Breast Imaging Reporting and Data System is being discussed. This system is a good tool to determine the proper algorithm of breast disease patients’ management.

  9. Adaptive genetic potential of coniferous forest tree species under climate change: implications for sustainable forest management

    Science.gov (United States)

    Mihai, Georgeta; Birsan, Marius-Victor; Teodosiu, Maria; Dumitrescu, Alexandru; Daia, Mihai; Mirancea, Ionel; Ivanov, Paula; Alin, Alexandru

    2017-04-01

    Mountain ecosystems are extremely vulnerable to climate change. The real potential for adaptation depends upon the existence of a wide genetic diversity in trees populations, upon the adaptive genetic variation, respectively. Genetic diversity offers the guarantee that forest species can survive, adapt and evolve under the influence of changing environmental conditions. The aim of this study is to evaluate the genetic diversity and adaptive genetic potential of two local species - Norway spruce and European silver fir - in the context of regional climate change. Based on data from a long-term provenance experiments network and climate variables spanning over more than 50 years, we have investigated the impact of climatic factors on growth performance and adaptation of tree species. Our results indicate that climatic and geographic factors significantly affect forest site productivity. Mean annual temperature and annual precipitation amount were found to be statistically significant explanatory variables. Combining the additive genetic model with the analysis of nuclear markers we obtained different images of the genetic structure of tree populations. As genetic indicators we used: gene frequencies, genetic diversity, genetic differentiation, genetic variance, plasticity. Spatial genetic analyses have allowed identifying the genetic centers holding high genetic diversity which will be valuable sources of gene able to buffer the negative effects of future climate change. Correlations between the marginal populations and in the optimal vegetation, between the level of genetic diversity and ecosystem stability, will allow the assessment of future risks arising from current genetic structure. Therefore, the strategies for sustainable forest management have to rely on the adaptive genetic variation and local adaptation of the valuable genetic resources. This work was realized within the framework of the project GENCLIM (Evaluating the adaptive potential of the main

  10. Genetic analysis of Enterobius vermicularis isolated from a chimpanzee with lethal hemorrhagic colitis and pathology of the associated lesions.

    Science.gov (United States)

    Yaguchi, Yuji; Okabayashi, Sachi; Abe, Niichiro; Masatou, Haruhisa; Iida, Shinya; Teramoto, Isao; Matsubayashi, Makoto; Shibahara, Tomoyuki

    2014-11-01

    Human pinworms, Enterobius vermicularis, are normally recognized as minor pathogens. However, a fatal case of human pinworm infection has been reported in a nonhuman primate, a zoo reared chimpanzee. Here, we histopathologically examined the lesions in tissues from the deceased chimpanzee and genetically characterized the isolated worms to investigate the pathogenicity and determine the phylogeny. We identified ulcers deep in the submucosa where many parasites were found to have invaded the lamina propria mucosa or submucous tissue. An inflammatory reaction consisting mainly of neutrophils and lymphocytes but not eosinophils was observed around the parasites, and intense hemorrhage in the lamina propria was confirmed. The parasites were morphologically similar to E. vermicularis based on the shape of the copulatory spicules. Mitochondrial cytochrome c oxidase subunit 1 gene products were amplified from worm DNA by PCR and were genetically identified as E. vermicularis based on >98.7% similarity of partial sequences. Phylogenetic analysis revealed that the sequences clustered together with other chimpanzee E. vermicularis isolates in a group which has been referred to as type C and which differs from human isolates (type A). The samples were negative for bacterial pathogens and Entamoeba histolytica indicating that E. vermicularis could be pathogenic in chimpanzees. Phylogenetic clustering of the isolates indicated that the parasite may be host specific.

  11. Pathology, treatment and management of posterior fossa brain tumors in childhood

    International Nuclear Information System (INIS)

    Bonner, K.; Siegel, K.R.

    1988-01-01

    Brain tumors are the second most common childhood malignancy. Between 1975 and 1985, 462 newly diagnosed patients were treated at the Children's Hospital of Philadelphia; 207 (45%) tumors arose in the posterior fossa and 255 (55%) appeared supratentorially. A wide variety of histological subtypes were seen, each requiring tumor-specific treatment approaches. These included primitive neuroectodermal tumor (n = 86, 19%), astrocytoma (n = 135, 30%), brainstem glioma (n = 47, 10%), anaplastic astrocytoma (n = 32, 7%), and ependymoma (n = 30, 6%). Because of advances in diagnostic abilities, surgery, radiotherapy, and chemotherapy, between 60% and 70% of these patients are alive today. Diagnostic tools such as computed tomography and magnetic resonance imaging allow for better perioperative management and follow-up, while the operating microscope, CO 2 laser, cavitron ultrasonic aspirator and neurosurgical microinstrumentation allow for more extensive and safer surgery. Disease specific treatment protocols, utilizing radiotherapy and adjuvant chemotherapy, have made survival common in tumors such as medulloblastoma. As survival rates increase, cognitive, endocrinologic and psychologic sequelae become increasingly important. The optimal management of children with brain tumors demands a multidisciplinary approach, best facilitated by a neuro-oncology team composed of multiple subspecialists. This article addresses incidence, classification and histology, clinical presentation, diagnosis, pre-, intra- and postoperative management, long-term effects and the team approach in posterior fossa tumors in childhood. Management of specific tumor types is included as well. 57 references

  12. Plant Pathology and Information Technology: Opportunity for Management of Disease Outbreak and Applications in Regulation Frameworks

    Directory of Open Access Journals (Sweden)

    Andrea Luvisi

    2016-08-01

    Full Text Available In many European rural areas, agriculture is not only an economic activity, but it is strictly linked to environmental and social characteristics of the area. Thus, sometimes, a pathogen can become a social threat, as in the case of Xylella fastidiosa and olive trees (Olea europaea L. in Salento. Fast and systemic response to threats represents the key to success in stopping pest invasions, and proves a great help in managing lots of data in a short time or coordinating large-scale monitoring coming from applying Information Technology tools. Regarding the field of applications, the advantages provided by new technologies are countless. However, is it the same in agriculture? Electronic identification tools can be applied for plant health management and certification. Treatments, agrochemical management or impact assessment may also be supported by dematerialization of data. Information Technology solution for urban forestry management or traceability of commodities belonging to “Food from Somewhere” regimes were analyzed and compared to protection from pests of a unique tree heritage such as olive trees in Salento.

  13. Biology and pathology of Ribes and their implications for management of white pine blister rust

    Science.gov (United States)

    P. J. Zambino

    2010-01-01

    Ribes (currants and gooseberries) are telial hosts for the introduced and invasive white pine blister rust fungus, Cronartium ribicola. Knowledge of wild and introduced Ribes helps us understand the epidemiology of blister rust on its aecial hosts, white pines, and develop disease control and management strategies. Ribes differ by species in their contribution to...

  14. Computational Pathology

    Science.gov (United States)

    Louis, David N.; Feldman, Michael; Carter, Alexis B.; Dighe, Anand S.; Pfeifer, John D.; Bry, Lynn; Almeida, Jonas S.; Saltz, Joel; Braun, Jonathan; Tomaszewski, John E.; Gilbertson, John R.; Sinard, John H.; Gerber, Georg K.; Galli, Stephen J.; Golden, Jeffrey A.; Becich, Michael J.

    2016-01-01

    Context We define the scope and needs within the new discipline of computational pathology, a discipline critical to the future of both the practice of pathology and, more broadly, medical practice in general. Objective To define the scope and needs of computational pathology. Data Sources A meeting was convened in Boston, Massachusetts, in July 2014 prior to the annual Association of Pathology Chairs meeting, and it was attended by a variety of pathologists, including individuals highly invested in pathology informatics as well as chairs of pathology departments. Conclusions The meeting made recommendations to promote computational pathology, including clearly defining the field and articulating its value propositions; asserting that the value propositions for health care systems must include means to incorporate robust computational approaches to implement data-driven methods that aid in guiding individual and population health care; leveraging computational pathology as a center for data interpretation in modern health care systems; stating that realizing the value proposition will require working with institutional administrations, other departments, and pathology colleagues; declaring that a robust pipeline should be fostered that trains and develops future computational pathologists, for those with both pathology and non-pathology backgrounds; and deciding that computational pathology should serve as a hub for data-related research in health care systems. The dissemination of these recommendations to pathology and bioinformatics departments should help facilitate the development of computational pathology. PMID:26098131

  15. Pathological and Clinical Features and Management of Central Nervous System Hemangioblastomas in von Hippel-Lindau Disease

    Directory of Open Access Journals (Sweden)

    Hiroshi Kanno

    2014-08-01

    Full Text Available Central nervous system (CNS hemangioblastoma is the most common manifestation of von Hippel-Lindau (VHL disease. It is found in 70-80% of VHL patients. Hemangioblastoma is a rare form of benign vascular tumor of the CNS, accounting for 2.0% of CNS tumors. It can occur sporadically or as a familial syndrome. CNS hemangioblastomas are typically located in the posterior fossa and the spinal cord. VHL patients usually develop a CNS hemangioblastoma at an early age. Therefore, they require a special routine for diagnosis, treatment and follow-up. The surgical management of symptomatic tumors depends on many factors such as symptom, location, multiplicity, and progression of the tumor. The management of asymptomatic tumors in VHL patients is controversial since CNS hemangioblastomas grow with intermittent quiescent and rapid-growth phases. Preoperative embolization of large solid hemangioblastomas prevents perioperative hemorrhage but is not necessary in every case. Radiotherapy should be reserved for inoperable tumors. Because of complexities of VHL, a better understanding of the pathological and clinical features of hemangioblastoma in VHL is essential for its proper management.

  16. Clinical management and gross pathological findings of a severe anaplamosis in a dairy cow

    Directory of Open Access Journals (Sweden)

    Yusuf Abba

    2016-06-01

    Results: The cow did not survive the infection as it eventually died of the disease. Post mortem examination showed gross evidence of splenomegaly, hepatomegaly, distended bile duct and generalized jaundice. Conclusion: Based on the consequence of this case report, preventive vector control, prompt and appropriate treatment and improved management practices are recommended in order to prevent clinical anaplasmosis cases among cattle. [J Adv Vet Anim Res 2016; 3(2.000: 195-199

  17. Reliability Based Spare Parts Management Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Rahul Upadhyay

    2015-08-01

    Full Text Available Effective and efficient inventory management is the key to the economic sustainability of capital intensive modern industries. Inventory grows exponentially with complexity and size of the equipment fleet. Substantial amount of capital is required for maintaining an inventory and therefore its optimization is beneficial for smooth operation of the project at minimum cost of inventory. The size and hence the cost of the inventory is influenced by a large no of factors. This makes the optimization problem complex. This work presents a model to solve the problem of optimization of spare parts inventory. The novelty of this study lies with the fact that the developed method could tackle not only the artificial test case but also a real-world industrial problem. Various investigators developed several methods and semi-analytical tools for obtaining optimum solutions for this problem. In this study non-traditional optimization tool namely genetic algorithms GA are utilized. Apart from this Coxs regression analysis is also used to incorporate the effect of some environmental factors on the demand of spares. It shows the efficacy of the applicability of non-traditional optimization tool like GA to solve these problems. This research illustrates the proposed model with the analysis of data taken from a fleet of dumper operated in a large surface coal mine. The optimum time schedules so suggested by this GA-based model are found to be cost effective. A sensitivity analysis is also conducted for this industrial problem. Objective function is developed and the factors like the effect of season and production pressure overloading towards financial year-ending is included in the equations. Statistical analysis of the collected operational and performance data were carried out with the help of Easy-Fit Ver-5.5.The analysis gives the shape and scale parameter of theoretical Weibull distribution. The Coxs regression coefficient corresponding to excessive loading

  18. Tomosynthesis-detected Architectural Distortion: Management Algorithm with Radiologic-Pathologic Correlation.

    Science.gov (United States)

    Durand, Melissa A; Wang, Steven; Hooley, Regina J; Raghu, Madhavi; Philpotts, Liane E

    2016-01-01

    As use of digital breast tomosynthesis becomes increasingly widespread, new management challenges are inevitable because tomosynthesis may reveal suspicious lesions not visible at conventional two-dimensional (2D) full-field digital mammography. Architectural distortion is a mammographic finding associated with a high positive predictive value for malignancy. It is detected more frequently at tomosynthesis than at 2D digital mammography and may even be occult at conventional 2D imaging. Few studies have focused on tomosynthesis-detected architectural distortions to date, and optimal management of these distortions has yet to be well defined. Since implementing tomosynthesis at our institution in 2011, we have learned some practical ways to assess architectural distortion. Because distortions may be subtle, tomosynthesis localization tools plus improved visualization of adjacent landmarks are crucial elements in guiding mammographic identification of elusive distortions. These same tools can guide more focused ultrasonography (US) of the breast, which facilitates detection and permits US-guided tissue sampling. Some distortions may be sonographically occult, in which case magnetic resonance imaging may be a reasonable option, both to increase diagnostic confidence and to provide a means for image-guided biopsy. As an alternative, tomosynthesis-guided biopsy, conventional stereotactic biopsy (when possible), or tomosynthesis-guided needle localization may be used to achieve tissue diagnosis. Practical uses for tomosynthesis in evaluation of architectural distortion are highlighted, potential complications are identified, and a working algorithm for management of tomosynthesis-detected architectural distortion is proposed. (©)RSNA, 2016.

  19. Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age

    Science.gov (United States)

    Cvelbar, Mirjam; Hocevar, Marko; Novakovic, Srdjan; Stegel, Vida; Perhavec, Andraz

    2017-01-01

    Abstract Background In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to

  20. Clinico-Pathological Profile and Management of Acute Mechanical Small Bowel Obstruction: A Prospective Study

    Directory of Open Access Journals (Sweden)

    Tahir Saleem Khan

    2013-06-01

    Conclusion: Abdominal pain and distention of the abdomen are the most common symptoms and physical findings in patients presenting with acute mechanical small bowel obstruction (SBO. Worm (ascaridial obstruction is the most common cause of obstruction followed by postoperative adhesions. Although all patients were managed conservatively to start with, the operative rate in our series remained very high because it is very difficult to distinguish simple from strangulation obstruction on clinical, biochemical and/or radiological grounds with certainty. [Arch Clin Exp Surg 2013; 2(3.000: 154-160

  1. Genetic effects of radiation and prediction of hereditary pathology of population of areas around the former Semipalatinsk test site

    International Nuclear Information System (INIS)

    Bigaliev, A.B.

    1998-01-01

    Epidemiological analysis of diseases and mortality of the population living in areas around Semipalatinsk test site is not only theoretically interesting in terms of the human being genetics, but is important for the health-care in practice, since it allows correct planning the score of medical social aid to the sick people and their families, including measures. Assessment of posterior consequences of low dose radiation effect on health of the population of the areas around the former Semipalatinsk nuclear test site is of special interest. Many underground, atmospheric and above-ground tests of nuclear weapon resulted in a significant increase of the oncologic and blood diseases rate among several generations of the effected people. Moreover, consequences of the above-ground and atmospheric tests of nuclear and hydrogen weapon will show up in the next century, taking into account the fact that the 'open' tests were ceased only at the middle of 60-th. The birth rate of children with the inherent intelligence defects was determined according to the accounting records of the new-born children within 1986-1992 years. Analysis of perinatal mortality was carried out based on the records on autopsy within 1985-1992 years. The two-fold increase of the onco diseases rate was revealed among children. The rate of spontaneous aborts in the Eginbulak district was 9.99% and exceeded the average rate in the region and indexes of other regions

  2. [Medulloblastoma. Pathology].

    Science.gov (United States)

    Siegfried, A; Delisle, M-B

    2018-04-24

    Medulloblastomas, embryonal neuroepithelial tumors developed in the cerebellum or brain stem, are mainly observed in childhood. The treatment of WHO-Grade IV tumors depends on stratifications that are usually based on postoperative data, histopathological subtype, tumor extension and presence of MYC or NMYC amplifications. Recently, molecular biology studies, based on new technologies (i.e. sequencing, transcriptomic, methylomic) have introduced genetic subtypes integrated into the latest WHO-2016 neuropathological classification. According to this classification, the three genetic groups WNT, SHH, with or without mutated TP53 gene, and non-WNT/non-SHH, comprising subgroups 3 and 4, are recalled in this review. The contribution of immunohistochemistry to define these groups is specified. The four histopathological groups are detailed in comparison to the WHO-2007 classification and the molecular data: classic medulloblastoma, desmoplastic/nodular medulloblastoma, medulloblastoma with extensive nodularity, and large cell/anaplastic medulloblastoma. The groups defined on genetic and histopathological grounds are not strictly concordant. Depending on the age of the patients, their correlations are different, as well as their role in the management and prognosis of these tumors. Other embryonal tumors, for which new classifications are in progress and gliomas may be confused with a medulloblastoma and the elements of the differential diagnosis of these entities are discussed. This evolution in classification fully justifies ongoing structuring procedures such as histopathological review (RENOCLIP) and the organization of molecular biology platforms. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  3. Applications of genetic data to improve management and conservation of river fishes and their habitats

    Science.gov (United States)

    Scribner, Kim T.; Lowe, Winsor H.; Landguth, Erin L.; Luikart, Gordon; Infante, Dana M.; Whelan, Gary; Muhlfeld, Clint C.

    2015-01-01

    Environmental variation and landscape features affect ecological processes in fluvial systems; however, assessing effects at management-relevant temporal and spatial scales is challenging. Genetic data can be used with landscape models and traditional ecological assessment data to identify biodiversity hotspots, predict ecosystem responses to anthropogenic effects, and detect impairments to underlying processes. We show that by combining taxonomic, demographic, and genetic data of species in complex riverscapes, managers can better understand the spatial and temporal scales over which environmental processes and disturbance influence biodiversity. We describe how population genetic models using empirical or simulated genetic data quantify effects of environmental processes affecting species diversity and distribution. Our summary shows that aquatic assessment initiatives that use standardized data sets to direct management actions can benefit from integration of genetic data to improve the predictability of disturbance–response relationships of river fishes and their habitats over a broad range of spatial and temporal scales.

  4. Diagnostic accuracy of fine needle biopsy in the management of thyroid pathology in the Hospital Mexico in 2011-2012

    International Nuclear Information System (INIS)

    Elizondo Herrera, Luis Guillermo

    2013-01-01

    The nodule has been a very common thyroid pathology; through palpation is located in a 5% of the population and through ultrasound this figure has increased by almost 50%. The thyroid nodule has been the shape of presentation of thyroid cancer; the majority of times asymptomatic and most recently has shown without relation to the size of the nodule, 5 to 15% of thyroid nodules are malignant. This requires to classify clinically, to decide which patient requires surgical management. In Costa Rica, and especially in the CCSS (Caja Costarricense de Seguro Social); It has had two tools for perform differentiation: ultrasound and FNA (fine needle aspiration biopsy). The diagnostic accuracy of these tests has allowed minimize thyroid surgeries in patients with benign nodules and sift patients with thyroid nodules into search for cancer of thyroid. Previous to routine use of FNA was resected only 14% of malignant nodules, now are resected more than 50%. The diagnostic accuracy of these tests is related to technical aspects and also with the structural and histological features of the lesions valued. The limitations and scope described have allowed to optimize the utilization of direct and indirect costs related to the management of patients with thyroid nodules and decrease morbidity in the management of thyroid pathology. The sensitivity and specificity of fine needle biopsy varies, as is noted in various publications, according to the reference center, has been quite reliable between 0.3 and 3 cm and is highly specific in the case of papillary carcinoma. The diagnostic accuracy of the test has never been studied in the Hospital Mexico. Of the total population for the period 2011-2012, it is documented that the FNA is a study of high specificity (95,5%), with value predictive negative and positive appropriate (>75%) and with an intermediate sensitivity (55,6%). The analysis of ultrasound and FNA as parallel testing has allowed greater sensitivity. The use of ultrasound

  5. System for Informatics in the Molecular Pathology Laboratory: An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management.

    Science.gov (United States)

    Kang, Wenjun; Kadri, Sabah; Puranik, Rutika; Wurst, Michelle N; Patil, Sushant A; Mujacic, Ibro; Benhamed, Sonia; Niu, Nifang; Zhen, Chao Jie; Ameti, Bekim; Long, Bradley C; Galbo, Filipo; Montes, David; Iracheta, Crystal; Gamboa, Venessa L; Lopez, Daisy; Yourshaw, Michael; Lawrence, Carolyn A; Aisner, Dara L; Fitzpatrick, Carrie; McNerney, Megan E; Wang, Y Lynn; Andrade, Jorge; Volchenboum, Samuel L; Furtado, Larissa V; Ritterhouse, Lauren L; Segal, Jeremy P

    2018-04-24

    Next-generation sequencing (NGS) diagnostic assays increasingly are becoming the standard of care in oncology practice. As the scale of an NGS laboratory grows, management of these assays requires organizing large amounts of information, including patient data, laboratory processes, genomic data, as well as variant interpretation and reporting. Although several Laboratory Information Systems and/or Laboratory Information Management Systems are commercially available, they may not meet all of the needs of a given laboratory, in addition to being frequently cost-prohibitive. Herein, we present the System for Informatics in the Molecular Pathology Laboratory, a free and open-source Laboratory Information System/Laboratory Information Management System for academic and nonprofit molecular pathology NGS laboratories, developed at the Genomic and Molecular Pathology Division at the University of Chicago Medicine. The System for Informatics in the Molecular Pathology Laboratory was designed as a modular end-to-end information system to handle all stages of the NGS laboratory workload from test order to reporting. We describe the features of the system, its clinical validation at the Genomic and Molecular Pathology Division at the University of Chicago Medicine, and its installation and testing within a different academic center laboratory (University of Colorado), and we propose a platform for future community co-development and interlaboratory data sharing. Copyright © 2018. Published by Elsevier Inc.

  6. Understanding the cognitive and genetic underpinnings of procrastination: Evidence for shared genetic influences with goal management and executive function abilities.

    Science.gov (United States)

    Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

    2015-12-01

    Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate 2 hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination. (c) 2015 APA, all rights reserved).

  7. Bringing genetic diversity to the forefront of conservation policy and management

    Czech Academy of Sciences Publication Activity Database

    Hoban, S. M.; Hauffe, H. C.; Pérez-Espona, S.; Arntzen, J. W.; Bertorelle, G.; Bryja, Josef; Frith, K.; Gaggiotti, O. E.; Galbusera, P.; Godoy, J. A.; Hoelzel, A. R.; Nichols, R. A.; Primmer, C. R.; Russo, I.-R.; Segelbacher, G.; Siegismund, H. R.; Sihvonen, M.; Vernesi, C.; Vila, C.; Bruford, M. W.

    2013-01-01

    Roč. 5, č. 2 (2013), s. 593-598 ISSN 1877-7252 Institutional support: RVO:68081766 Keywords : Conservation genetics * Aichi target 13 * ConGRESS * Biodiversity management * Biodiversity policy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.136, year: 2013

  8. Genetic diversity and conservation status of managed vicuña (Vicugna vicugna) populations in Argentina.

    Science.gov (United States)

    Anello, M; Daverio, M S; Romero, S R; Rigalt, F; Silbestro, M B; Vidal-Rioja, L; Di Rocco, F

    2016-02-01

    The vicuña (Vicugna vicugna) was indiscriminately hunted for more than 400 years and, by the end of 1960s, it was seriously endangered. At that time, a captive breeding program was initiated in Argentina by the National Institute of Agricultural Technology (INTA) with the aim of preserving the species. Nowadays, vicuñas are managed in captivity and in the wild to obtain their valuable fiber. The current genetic status of Argentinean vicuña populations is virtually unknown. Using mitochondrial DNA and microsatellite markers, we assessed levels of genetic diversity of vicuña populations managed in the wild and compared it with a captive population from INTA. Furthermore, we examined levels of genetic structure and evidence for historical bottlenecks. Overall, all populations revealed high genetic variability with no signs of inbreeding. Levels of genetic diversity between captive and wild populations were not significantly different, although the captive population showed the lowest estimates of allelic richness, number of mitochondrial haplotypes, and haplotype diversity. Significant genetic differentiation at microsatellite markers was found between free-living populations from Jujuy and Catamarca provinces. Moreover, microsatellite data also revealed genetic structure within the Catamarca management area. Genetic signatures of past bottlenecks were detected in wild populations by the Garza Williamson test. Results from this study are discussed in relation to the conservation and management of the species.

  9. Genetic diversity for sustainable rice blast management in China: adoption and impact

    NARCIS (Netherlands)

    Revilla-Molina, I.M.

    2009-01-01

    Keywords: Disease management, genetic diversity, rice interplanting, competition, resource complementarity, technical efficiency, production function, Magnaporthe grisea

    The experience on rice blast in Yunnan Province, China, is one of the most successful and widely publicized examples

  10. Notification: Evaluation of Office of Pesticide Programs’ Genetically Engineered Corn Insect Resistance Management

    Science.gov (United States)

    Project #OPE-FY15-0055, July 09, 2015. The EPA OIG plans to begin preliminary research on the EPA's ability to manage and prevent increased insect resistance to genetically engineered Bacillus thuringiensis (Bt) corn.

  11. Development of a Laboratory Information Management System for Medical Genetic Investigations (LIMS)

    OpenAIRE

    Albers, K.

    2006-01-01

    Studying the genetic factor underlying a set of diseases with modern high- throughput techniques generates huge amounts of data, posing a challenge for data management. In this thesis a database management system called FIDB based on MySQL was developed to handle clinical and experimental genetic data. For the convenience of the users, a web interface was developed to insert, update, delete and display the data. In addition security aspects were taken care of. Currently FIDB is able to organi...

  12. A Preliminary Study of DBH (Encoding Dopamine Beta-Hydroxylase) Genetic Variation and Neural Correlates of Emotional and Motivational Processing in Individuals With and Without Pathological Gambling.

    Science.gov (United States)

    Yang, Bao-Zhu; Balodis, Iris M; Lacadie, Cheryl M; Xu, Jiansong; Potenza, Marc N

    2016-06-01

    Background and aims Corticostriatal-limbic neurocircuitry, emotional and motivational processing, dopaminergic and noradrenergic systems and genetic factors have all been implicated in pathological gambling (PG). However, allelic variants of genes influencing dopaminergic and noradrenergic neurotransmitters have not been investigated with respect to the neural correlates of emotional and motivational states in PG. Dopamine beta-hydroxylase (DBH) converts dopamine to norepinephrine; the T allele of a functional single-nucleotide polymorphism rs1611115 (C-1021T) in the DBH gene is associated with less DBH activity and has been linked to emotional processes and addiction. Here, we investigate the influence of rs1611115 on the neural correlates of emotional and motivational processing in PG and healthy comparison (HC) participants. Methods While undergoing functional magnetic resonance imaging, 18 PG and 25 HC participants, all European Americans, viewed gambling-, sad-, and cocaine-related videotapes. Analyses focused on brain activation differences related to DBH genotype (CC/T-carrier [i.e., CT and TT]) and condition (sad/gambling/cocaine). Results CC participants demonstrated greater recruitment of corticostriatal-limbic regions, relative to T-carriers. DBH variants were also associated with altered corticostriatal-limbic activations across the different videotape conditions, and this association appeared to be driven by greater activation in CC participants relative to T-carriers during the sad condition. CC relative to T-carrier subjects also reported greater subjective sadness to the sad videotapes. Conclusions Individual differences in genetic composition linked to aminergic function contribute significantly to emotional regulation across diagnostic groups and warrant further investigation in PG.

  13. Population genetics of traditionally managed maize : farming practice as a determinant of genetic structure and identity of maize landraces in Mexico

    NARCIS (Netherlands)

    Heerwaarden, van J.

    2007-01-01

    A large amount of crop genetic diversity is being maintained in farmers' fields worldwide. The population genetics of traditionally managed landraces is therefore of interest to the conservation of genetic resources. The growing trend towards agricultural modernization and the prospect of

  14. Conservative management of CIN2: National Audit of British Society for Colposcopy and Cervical Pathology members' opinion.

    Science.gov (United States)

    Macdonald, Madeleine; Smith, John H F; Tidy, John A; Palmer, Julia E

    2018-04-01

    There is no doubt that organised cervical screening programmes have significantly reduced the rates of cervical cancer by detection and treatment of high-grade cervical intraepithelial neoplasia (CIN2, CIN3). National UK guidelines do not differentiate between CIN2 and CIN3 as separate entities and recommend treatment for both, although a degree of uncertainty exists regarding the natural history of CIN2. This national survey of British Society for Colposcopy and Cervical Pathology members aimed to assess attitudes towards conservative management (CM) of CIN2 in the UK and identify potential selection criteria. In total, 511 members responded (response rate 32%); 55.6% offered CM for selective cases; 12.4% for all cases; 16.4% had formal guidelines. Most agreed age group was >40yrs (83%), HPV 16/18 positive (51.4%), smoking (60%), immuno-compromise (74.2%), and large lesion size (80.8%) were relative contraindications for CM. 75.9% favoured six-monthly monitoring, with 80.2% preferring excisional treatment for persistent high-grade disease. Many UK colposcopists manage CIN2 conservatively without formal guidelines. Potential selection criteria should be investigated by a multicentre study. Impact statement Although anecdotally some colposcopists manage many women with CIN2 conservatively, this National Audit of British Society for Colposcopy and Cytopathology members, we believe, is the first time this has been formally recorded. The survey assesses current attitudes towards conservative management (CM) of CIN2 and seeks to identify potential selection criteria that could be used to identify suitable women. It received over 500 responses and significantly, identified many colposcopists recommending CM of CIN2 for patients despite the lack of any formal guidance regarding this approach. The greater majority of respondents were keen to consider participating in a multicentre trial on CM of CIN2 targeting the UK screening population (25-64 years). The paper has

  15. Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

    Science.gov (United States)

    Colombini, Alessandra; Brayda-Bruno, Marco; Ferino, Lucia; Lombardi, Giovanni; Maione, Vincenzo; Banfi, Giuseppe; Cauci, Sabina

    2015-01-01

    Recently, the FokI polymorphism (rs2228570) in the vitamin D receptor gene (VDR) and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females) with lumbar spine disorders were assessed by magnetic resonance imaging (MRI) and 254 (127 males, 127 females) asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP). An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders. PMID:25671813

  16. Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

    Directory of Open Access Journals (Sweden)

    Alessandra Colombini

    2015-02-01

    Full Text Available Recently, the FokI polymorphism (rs2228570 in the vitamin D receptor gene (VDR and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females with lumbar spine disorders were assessed by magnetic resonance imaging (MRI and 254 (127 males, 127 females asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP. An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders.

  17. Cordova: web-based management of genetic variation data.

    Science.gov (United States)

    Ephraim, Sean S; Anand, Nikhil; DeLuca, Adam P; Taylor, Kyle R; Kolbe, Diana L; Simpson, Allen C; Azaiez, Hela; Sloan, Christina M; Shearer, A Eliot; Hallier, Andrea R; Casavant, Thomas L; Scheetz, Todd E; Smith, Richard J H; Braun, Terry A

    2014-12-01

    Cordova is an out-of-the-box solution for building and maintaining an online database of genetic variations integrated with pathogenicity prediction results from popular algorithms. Our primary motivation for developing this system is to aid researchers and clinician-scientists in determining the clinical significance of genetic variations. To achieve this goal, Cordova provides an interface to review and manually or computationally curate genetic variation data as well as share it for clinical diagnostics and the advancement of research. Cordova is open source under the MIT license and is freely available for download at https://github.com/clcg/cordova. Published by Oxford University Press. This work is written by US Government employees and is in the public domain in the US.

  18. Prognostic Modeling in Pathologic N1 Breast Cancer Without Elective Nodal Irradiation After Current Standard Systemic Management.

    Science.gov (United States)

    Yu, Jeong Il; Park, Won; Choi, Doo Ho; Huh, Seung Jae; Nam, Seok Jin; Kim, Seok Won; Lee, Jeong Eon; Kil, Won Ho; Im, Young-Hyuck; Ahn, Jin Seok; Park, Yeon Hee; Cho, Eun Yoon

    2015-08-01

    This study was conducted to establish a prognostic model in patients with pathologic N1 (pN1) breast cancer who have not undergone elective nodal irradiation (ENI) under the current standard management and to suggest possible indications for ENI. We performed a retrospective study with patients with pN1 breast cancer who received the standard local and preferred adjuvant chemotherapy treatment without neoadjuvant chemotherapy and ENI from January 2005 to June 2011. Most of the indicated patients received endocrine and trastuzumab therapy. In 735 enrolled patients, the median follow-up period was 58.4 months (range, 7.2-111.3 months). Overall, 55 recurrences (7.4%) developed, and locoregional recurrence was present in 27 patients (3.8%). Recurrence-free survival was significantly related to lymphovascular invasion (P = .04, hazard ratio [HR], 1.83; 95% confidence interval [CI], 1.03-2.88), histologic grade (P = .03, HR, 2.57; 95% CI, 1.05-6.26), and nonluminal A subtype (P = .02, HR, 3.04; 95% CI, 1.23-7.49) in multivariate analysis. The prognostic model was established by these 3 prognostic factors. Recurrence-free survival was less than 90% at 5 years in cases with 2 or 3 factors. The prognostic model has stratified risk groups in pN1 breast cancer without ENI. Patients with 2 or more factors should be considered for ENI. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Pathologic Analysis of Control Plans for Air Pollution Management in Tehran Metropolis: A Cross-Sectional Study.

    Science.gov (United States)

    Salehi Shahrabi, Narges; Pourezzat, Aliasghar; Mobaraki, Hossein; Mafimoradi, Shiva

    2013-11-01

    The centralization of human activities is associated with different pollutants which enter into environment easily and cause the urban environment more vulnerable. Regarding the importance of air pollution issue for Tehran metropolis, many plans and regulations have been developed. However, most of them failed to decline the pollution. The purpose of this study was to pathologically analyze air-pollution control plans to offer effective solutions for Tehran metropolis. A Qualitative content analysis in addition to a semi-structured interview with 14 practicing professional were used to identify 1) key sources of Tehran's air pollution, 2) recognize challenges towards effective performance of pertinent plans and 3), offer effective solutions. Related challenges to air-pollution control plans can be divided into two major categories including lack of integrated and organized stewardship and PEST challenges. For controlling the air pollution of Tehran effectively, various controlling alternatives were identified as systematization of plan preparation process, standardization and utilization of new technologies & experts, infrastructural development, realization of social justice, developing coordination mechanisms, improving citizens' participatory capacity and focusing on effective management of fuel and energy. Controlling air pollution in Tehran needs a serious attention of policymakers to make enforcements through applying a systemic cycle of preparation comprehensive plans. Further, implement the enforcements and evaluate the environmental impact of the plans through involving all stakeholders.

  20. Medium-term follow-up after deployment of ultraflex expandable metallic stents to manage endobronchial pathology.

    Science.gov (United States)

    Madden, Brendan P; Park, John E S; Sheth, Abhijat

    2004-12-01

    Between March 1997 and March 2004 we deployed 80 Ultraflex metallic expandable stents (Boston Scientific, Waterson, MA) in 69 patients under direct vision using rigid bronchoscopy. We report our medium- to long-term experience in patients for whom these stents were deployed. To date 15 patients have been followed for more than 1 year (median 41 months, range 12 to 83 months) after stent deployment. Indications for stenting in these patients were neoplasia (5), stricture (5), airway malacia (1), iatrogenic tracheal tear (1), and compression from an aortic aneurysm (1), a right interrupted aortic arch (1), and a right brachiocephalic artery aneurysm with tracheomalacia (1). Ten tracheal stents (9 covered, 1 uncovered) and 10 bronchial stents (8 uncovered, 2 covered) were inserted, and 5 patients received two stents. Five of these patients experienced no long-term problems. Complications included troublesome halitosis (5), which was difficult to treat despite various antibiotic regimes; granulation tissue formation above and below the stent that was successfully treated with low-power Nd:YAG laser therapy (7); and metal fatigue (1). We did not encounter stent migration. We conclude that Ultraflex expandable metallic stents have an important role in the management of selected patients with diverse endobronchial pathologies and are well tolerated in the long-term. Although associated granulation tissue can be successfully treated with Nd:YAG laser, halitosis can be a difficult problem to address.

  1. Stem Cell Pathology.

    Science.gov (United States)

    Fu, Dah-Jiun; Miller, Andrew D; Southard, Teresa L; Flesken-Nikitin, Andrea; Ellenson, Lora H; Nikitin, Alexander Yu

    2018-01-24

    Rapid advances in stem cell biology and regenerative medicine have opened new opportunities for better understanding disease pathogenesis and the development of new diagnostic, prognostic, and treatment approaches. Many stem cell niches are well defined anatomically, thereby allowing their routine pathological evaluation during disease initiation and progression. Evaluation of the consequences of genetic manipulations in stem cells and investigation of the roles of stem cells in regenerative medicine and pathogenesis of various diseases such as cancer require significant expertise in pathology for accurate interpretation of novel findings. Therefore, there is an urgent need for developing stem cell pathology as a discipline to facilitate stem cell research and regenerative medicine. This review provides examples of anatomically defined niches suitable for evaluation by diagnostic pathologists, describes neoplastic lesions associated with them, and discusses further directions of stem cell pathology.

  2. Genetic Diversity and Population Structure of Mesoamerican Jaguars (Panthera onca): Implications for Conservation and Management.

    Science.gov (United States)

    Wultsch, Claudia; Caragiulo, Anthony; Dias-Freedman, Isabela; Quigley, Howard; Rabinowitz, Salisa; Amato, George

    2016-01-01

    Mesoamerican jaguars (Panthera onca) have been extirpated from over 77% of their historic range, inhabiting fragmented landscapes at potentially reduced population sizes. Maintaining and restoring genetic diversity and connectivity across human-altered landscapes has become a major conservation priority; nonetheless large-scale genetic monitoring of natural populations is rare. This is the first regional conservation genetic study of jaguars to primarily use fecal samples collected in the wild across five Mesoamerican countries: Belize, Costa Rica, Guatemala, Honduras, and Mexico. We genotyped 445 jaguar fecal samples and examined patterns of genetic diversity and connectivity among 115 individual jaguars using data from 12 microsatellite loci. Overall, moderate levels of genetic variation were detected (NA = 4.50 ± 1.05, AR = 3.43 ± 0.22, HE = 0.59 ± 0.04), with Mexico having the lowest genetic diversity, followed by Honduras, Guatemala, Belize, and Costa Rica. Population-based gene flow measures (FST = 0.09 to 0.15, Dest = 0.09 to 0.21), principal component analysis, and Bayesian clustering applied in a hierarchical framework revealed significant genetic structure in Mesoamerican jaguars, roughly grouping individuals into four genetic clusters with varying levels of admixture. Gene flow was highest among Selva Maya jaguars (northern Guatemala and central Belize), whereas genetic differentiation among all other sampling sites was moderate. Genetic subdivision was most pronounced between Selva Maya and Honduran jaguars, suggesting limited jaguar movement between these close geographic regions and ultimately refuting the hypothesis of contemporary panmixia. To maintain a critical linkage for jaguars dispersing through the Mesoamerican landscape and ensure long-term viability of this near threatened species, we recommend continued management and maintenance of jaguar corridors. The baseline genetic data provided by this study underscores the importance of

  3. Biosafety Management of Genetically Modified Crops (China) | CRDI ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Since 1990, China's agricultural biotechnology sector has experienced tremendous growth. A recent survey shows that the country is developing the largest plant biotechnology capacity outside North America. Public investment in the sector, as well as the number of genetically modified (GM) crops commercialized, ...

  4. Chronic disease risk management: Combining genetic testing with ...

    African Journals Online (AJOL)

    Nutrigenetics has been used for decades to prevent rare monogenic disorders such as phenylketonuria. Gene-diet interaction can now also be targeted to prevent or reduce the risk of many chronic conditions long before clinical manifestation. This multidisciplinary approach unites conventional medicine with genetics and ...

  5. Chapter 7. Management strategies for dwarf mistletoes: Biological, chemical, and genetic approaches

    Science.gov (United States)

    S. F. Shamoun; L. E. DeWald

    2002-01-01

    The opportunity and need for management of mistletoe populations with biological, chemical, and genetic approaches are greatest for application to the dwarf mistletoes. Although much information is available on these management strategies (see reviews by Hawksworth 1972, Knutson 1978), significant research and development are still required for these to become...

  6. Use of genetic algorithms in operations management. Part II - Results.

    OpenAIRE

    Stockton, David; Quinn, L. (Liam); Khalil, R. A. (Riham A.)

    2004-01-01

    The insight gained into the relationship between genetic algorithm (GA) structure and optimisation performance, through the research reported in this paper, provided the knowledge to integrate GAs with discrete event simulation which formed the output from IMI EPSRC Project GR/N05871 ‘Responsive Design and Operation of Flexible Machining Lines’ rated by EPSRC as “Tending to Internationally Leading” where industrial partners included , Unipart Group Ltd and Nigel.Shir...

  7. Management of genetic epilepsies: From empirical treatment to precision medicine.

    Science.gov (United States)

    Striano, Pasquale; Vari, Maria Stella; Mazzocchetti, Chiara; Verrotti, Alberto; Zara, Federico

    2016-05-01

    Despite the over 20 antiepileptic drugs (AEDs) now licensed for epilepsy treatment, seizures can be effectively controlled in about ∼70% of patients. Thus, epilepsy treatment is still challenging in about one third of patients and this may lead to a severe medically, physically, and socially disabling condition. However, there is clear evidence of heterogeneity of response to existing AEDs and a significant unmet need for effective intervention. A number of studies have shown that polymorphisms may influence the poor or inadequate therapeutic response as well as the occurrence of adverse effects. In addition, the new frontier of genomic technologies, including chromosome microarrays and next-generation sequencing, improved our understanding of the genetic architecture of epilepsies. Recent findings in some genetic epilepsy syndromes provide insights into mechanisms of epileptogenesis, unrevealing the role of a number of genes with different functions, such as ion channels, proteins associated to the vesical synaptic cycle or involved in energy metabolism. The rapid progress of high-throughput genomic sequencing and corresponding analysis tools in molecular diagnosis are revolutionizing the practice and it is a fact that for some monogenic epilepsies the molecular confirmation may influence the choice of the treatment. Moreover, the novel genetic methods, that are able to analyze all known genes at a reasonable price, are of paramount importance to discover novel therapeutic avenues and individualized (or precision) medicine. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Population genetic structure of savannah elephants in Kenya: conservation and management implications

    DEFF Research Database (Denmark)

    Okello, John B A; Masembe, Charles; Rasmussen, Henrik B

    2008-01-01

    We investigated population genetic structure and regional differentiation among African savannah elephants in Kenya using mitochondrial and microsatellite markers. We observed mitochondrial DNA (mtDNA) nucleotide diversity of 1.68% and microsatellite variation in terms of average number of allele...... through male-mediated gene flow. Our results depicting 3 broad regional mtDNA groups and the observed population genetic differentiation as well as connectivity patterns should be incorporated in the planning of future management activities such as translocations....

  9. Genetic algorithms used for PWRs refuel management automatic optimization: a new modelling

    International Nuclear Information System (INIS)

    Chapot, Jorge Luiz C.; Schirru, Roberto; Silva, Fernando Carvalho da

    1996-01-01

    A Genetic Algorithms-based system, linking the computer codes GENESIS 5.0 and ANC through the interface ALGER, has been developed aiming the PWRs fuel management optimization. An innovative codification, the Lists Model, has been incorporated to the genetic system, which avoids the use of variants of the standard crossover operator and generates only valid loading patterns in the core. The GENESIS/ALGER/ANC system has been successfully tested in an optimization study for Angra-1 second cycle. (author)

  10. Application of genetic algorithm in the fuel management optimization for the high flux engineering test reactor

    International Nuclear Information System (INIS)

    Shi Xueming; Wu Hongchun; Sun Shouhua; Liu Shuiqing

    2003-01-01

    The in-core fuel management optimization model based on the genetic algorithm has been established. An encode/decode technique based on the assemblies position is presented according to the characteristics of HFETR. Different reproduction strategies have been studied. The expert knowledge and the adaptive genetic algorithms are incorporated into the code to get the optimized loading patterns that can be used in HFETR

  11. Market organization and animal genetic resource management: a revealed preference analysis of sheep pricing.

    Science.gov (United States)

    Tindano, K; Moula, N; Leroy, P; Traoré, A; Antoine-Moussiaux, N

    2017-10-01

    Farm animal genetic resources are threatened worldwide. Participation in markets, while representing a crucial way out of poverty for many smallholders, affects genetic management choices with associated sustainability concerns. This paper proposes a contextualized study of the interactions between markets and animal genetic resources management, in the case of sheep markets in Ouagadougou, Burkina Faso. It focusses on the organization of marketing chains and the valuation of genetic characteristics by value chain actors. Marketing chain characterization was tackled through semi-structured interviews with 25 exporters and 15 butchers, both specialized in sheep. Moreover, revealed preference methods were applied to analyse the impact of animals' attributes on market pricing. Data were collected from 338 transactions during three different periods: Eid al-Adha, Christmas and New Year period, and a neutral period. The neutral period is understood as a period not close to any event likely to influence the demand for sheep. The results show that physical characteristics such as live weight, height at withers and coat colour have a strong influence on the animals' prices. Live weight has also had an increasing marginal impact on price. The different markets (local butcher, feasts, export market, sacrifices) represent distinct demands for genetic characteristics, entailing interesting consequences for animal genetic resource management. Any breeding programme should therefore take this diversity into account to allow this sector to contribute better to a sustainable development of the country.

  12. Online management genetic algorithms of microgrid for residential application

    International Nuclear Information System (INIS)

    Mohamed, Faisal A.; Koivo, Heikki N.

    2012-01-01

    Highlights: ► We determine the optimal Generation optimization scheme of Microgrid. ► We employ Genetic Algorithm to the environmental/economic problem of the MG. ► We captured the optimal behavior of the MG with high accuracy even with new six different cases. - Abstract: This paper proposes a generalized formulation to determine the optimal operating strategy and cost optimization scheme for a MicroGrid (MG) for residential application. Genetic Algorithm is applied to the environmental/economic problem of the MG. The proposed problem is formulated as a nonlinear constrained MO optimization problem. Prior to the optimization of the microgrid itself, models for the system components are determined using real data. The proposed cost function takes into consideration the costs of the emissions, NOx, SO 2 , and CO 2 , start up costs, as well as the operation and maintenance costs. The MG considered in this paper consists of a wind turbine, a microturbine, a diesel generator, a photovoltaic array, a fuel cell, and a battery storage. The optimization is aimed at minimizing the cost function of the system while constraining it to meet the costumer demand and safety of the system. We also add a daily income and outgo from sale or purchased power. The results demonstrate the efficiency of the proposed approach to satisfy the load and to reduce the cost and the emissions. The comparison with other techniques demonstrates the superiority of the proposed approach and confirms its potential to solve the problem.

  13. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.

    Science.gov (United States)

    Schneider, M; Chandler, K; Tischkowitz, M; Meyer, S

    2015-07-01

    Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Risk Management of the Natural Gas Consumption using Genetic Algorithms

    Czech Academy of Sciences Publication Activity Database

    Pelikán, Emil; Šimůnek, Milan

    2005-01-01

    Roč. 15, - (2005), s. 425-436 ISSN 1210-0552 R&D Projects: GA AV ČR 1ET400300513 Institutional research plan: CEZ:AV0Z10300504 Keywords : forecasting * risk-management * energy consumption Subject RIV: BB - Applied Statistics, Operational Research

  15. Non-genetic risk factors in haemophilia A inhibitor management

    DEFF Research Database (Denmark)

    Löfgren, Karin Maria; Søndergaard, H.; Skov, Søren

    2016-01-01

    In haemophilia A (HA) management, antidrug antibodies, or inhibitors, are a serious complication that renders factor VIII (FVIII) replacement therapy ineffective, increases morbidity and reduces quality of life for affected patients. Inhibitor development aetiology is multifactorial and covers both...... stressed, injured or dying cells can activate an immune reaction, without the involvement of foreign antigens. Bleeds, trauma, surgery or concomitant infection could be events initiating danger signalling in HA patients, resulting in an immune reaction towards administered FVIII that otherwise would pass...

  16. Statin-associated myopathy: from genetic predisposition to clinical management.

    Science.gov (United States)

    Vrablik, M; Zlatohlavek, L; Stulc, T; Adamkova, V; Prusikova, M; Schwarzova, L; Hubacek, J A; Ceska, R

    2014-01-01

    Statin-associated myopathy (SAM) represents a broad spectrum of disorders from insignificant myalgia to fatal rhabdomyolysis. Its frequency ranges from 1-5 % in clinical trials to 15-20 % in everyday clinical practice. To a large extent, these variations can be explained by the definition used. Thus, we propose a scoring system to classify statin-induced myopathy according to clinical and biochemical criteria as 1) possible, 2) probable or 3) definite. The etiology of this disorder remains poorly understood. Most probably, an underlying genetic cause is necessary for overt SAM to develop. Variants in a few gene groups that encode proteins involved in: i) statin metabolism and distribution (e.g. membrane transporters and enzymes; OATP1B1, ABCA1, MRP, CYP3A4), ii) coenzyme Q10 production (e.g. COQ10A and B), iii) energy metabolism of muscle tissue (e.g. PYGM, GAA, CPT2) and several others have been proposed as candidates which can predispose to SAM. Pharmacological properties of individual statin molecules (e.g. lipophilicity, excretion pathways) and patients´ characteristics influence the likelihood of SAM development. This review summarizes current data as well as our own results.

  17. An Agent-Based Framework for E-Commerce Information Retrieval Management Using Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Floarea NASTASE

    2009-01-01

    Full Text Available The paper addresses the issue of improving retrieval performance management for retrieval from document collections that exist on the Internet. It also comes with a solution that uses the benefits of the agent technology and genetic algorithms in the process of the information retrieving management. The most important paradigms of information retrieval are mentioned having the goal to make more evident the advantages of using the genetic algorithms based one. Within the paper, also a genetic algorithm that can be use for the proposed solution is detailed and a comparative description between the dynamic and static proposed solution is made. In the end, new future directions are shown based on elements presented in this paper. The future results look very encouraging.

  18. Discordant correlation of breast adenoid cystic carcinoma on imaging and pathology: A case report and literature review on surgical management

    Directory of Open Access Journals (Sweden)

    Zhiyan Yan

    2018-01-01

    Conclusion: ACC can be extensively infiltrative and present much larger than its radiological size, as reported in our case. Use of better imaging modalities judiciously, in these cases, are needed to more accurately predict the true pathological size of ACC to prevent inadequate surgery.

  19. Genetic characterization of Western European noble crayfish populations (Astacus astacus) for advanced conservation management strategies

    NARCIS (Netherlands)

    Schrimpf, A.; Piscione, M.; Cammaerts, R.; Collas, M.; Herman, D.; Jung, A.; Ottburg, F.; Roessink, I.; Rollin, X.; Schulz, R.; Theissinger, K.

    2017-01-01

    One central goal of conservation biology is to conserve the genetic diversity of species in order to protect their adaptive potential. The main objective of this study was to identify management units (MUs) for the threatened noble crayfish (Astacus astacus) in Western Europe by utilizing

  20. Portfolio management using value at risk: A comparison between genetic algorithms and particle swarm optimization

    NARCIS (Netherlands)

    V.A.F. Dallagnol (V. A F); J.H. van den Berg (Jan); L. Mous (Lonneke)

    2009-01-01

    textabstractIn this paper, it is shown a comparison of the application of particle swarm optimization and genetic algorithms to portfolio management, in a constrained portfolio optimization problem where no short sales are allowed. The objective function to be minimized is the value at risk

  1. Genetic management strategies for controlling infectious diseases in livestock populations

    Directory of Open Access Journals (Sweden)

    Bishop Stephen C

    2003-06-01

    Full Text Available Abstract This paper considers the use of disease resistance genes to control the transmission of infection through an animal population. Transmission is summarised by R0, the basic reproductive ratio of a pathogen. If R0 > 1.0 a major epidemic can occur, thus a disease control strategy should aim to reduce R0 below 1.0, e.g. by mixing resistant with susceptible wild-type animals. Suppose there is a resistance allele, such that transmission of infection through a population homozygous for this allele will be R02 01, where R01 describes transmission in the wildtype population. For an otherwise homogeneous population comprising animals of these two groups, R0 is the weighted average of the two sub-populations: R0 = R01ρ + R02 (1 - ρ, where ρ is the proportion of wildtype animals. If R01 > 1 and R02 0 ≤ 1, i.e. ρ ≤ (R0 - R02/(R01 - R02. If R02 = 0, the proportion of resistant animals must be at least 1 - 1/R01. For an n genotype model the requirement is still to have R0 ≤ 1.0. Probabilities of epidemics in genetically mixed populations conditional upon the presence of a single infected animal were derived. The probability of no epidemic is always 1/(R0 + 1. When R0 ≤ 1 the probability of a minor epidemic, which dies out without intervention, is R0/(R0 + 1. When R0 > 1 the probability of a minor and major epidemics are 1/(R0 + 1 and (R0 - 1/(R0 + 1. Wherever possible a combination of genotypes should be used to minimise the invasion possibilities of pathogens that have mutated to overcome the effects of specific resistance alleles.

  2. [Pathological gambling].

    Science.gov (United States)

    Dembinsky, Yael; Iancu, Iulian; Dannon, Pinhas

    2007-10-01

    Gambling behaviour is well-known for many centuries and is growing in popularity and frequency. Its etiology is multi-factorial and in this paper we review new developments in the field of pathological gambling, both regarding etiology and treatment progress. The aim of this review is to increase the physicians' awareness towards this entity.

  3. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  4. Simulated Annealing Genetic Algorithm Based Schedule Risk Management of IT Outsourcing Project

    Directory of Open Access Journals (Sweden)

    Fuqiang Lu

    2017-01-01

    Full Text Available IT outsourcing is an effective way to enhance the core competitiveness for many enterprises. But the schedule risk of IT outsourcing project may cause enormous economic loss to enterprise. In this paper, the Distributed Decision Making (DDM theory and the principal-agent theory are used to build a model for schedule risk management of IT outsourcing project. In addition, a hybrid algorithm combining simulated annealing (SA and genetic algorithm (GA is designed, namely, simulated annealing genetic algorithm (SAGA. The effect of the proposed model on the schedule risk management problem is analyzed in the simulation experiment. Meanwhile, the simulation results of the three algorithms GA, SA, and SAGA show that SAGA is the most superior one to the other two algorithms in terms of stability and convergence. Consequently, this paper provides the scientific quantitative proposal for the decision maker who needs to manage the schedule risk of IT outsourcing project.

  5. Management of sleep disorders in neurodevelopmental disorders and genetic syndromes.

    Science.gov (United States)

    Heussler, Helen S

    2016-03-01

    Sleep disorders in individuals with developmental difficulties continue to be a significant challenge for families, carers, and therapists with a major impact on individuals and carers alike. This review is designed to update the reader on recent developments in this area. A systematic search identified a variety of studies illustrating advances in the regulation of circadian rhythm and sleep disturbance in neurodevelopmental disorders. Specific advances are likely to lead in some disorders to targeted therapies. There is strong evidence that behavioural and sleep hygiene measures should be first line therapy; however, studies are still limited in this area. Nonpharmacological measures such as exercise, sensory interventions, and behavioural are reported. Behavioural regulation and sleep hygiene demonstrate the best evidence for improved sleep parameters in individuals with neurodisability. Although the mainstay of management of children with sleep problems and neurodevelopmental disability is similar to that of typically developing children, there is emerging evidence of behavioural strategies being successful in large-scale trials and the promise of more targeted therapies for more specific resistant disorders.

  6. Next-Generation Sequencing for Infectious Disease Diagnosis and Management: A Report of the Association for Molecular Pathology.

    Science.gov (United States)

    Lefterova, Martina I; Suarez, Carlos J; Banaei, Niaz; Pinsky, Benjamin A

    2015-11-01

    Next-generation sequencing (NGS) technologies are increasingly being used for diagnosis and monitoring of infectious diseases. Herein, we review the application of NGS in clinical microbiology, focusing on genotypic resistance testing, direct detection of unknown disease-associated pathogens in clinical specimens, investigation of microbial population diversity in the human host, and strain typing. We have organized the review into three main sections: i) applications in clinical virology, ii) applications in clinical bacteriology, mycobacteriology, and mycology, and iii) validation, quality control, and maintenance of proficiency. Although NGS holds enormous promise for clinical infectious disease testing, many challenges remain, including automation, standardizing technical protocols and bioinformatics pipelines, improving reference databases, establishing proficiency testing and quality control measures, and reducing cost and turnaround time, all of which would be necessary for widespread adoption of NGS in clinical microbiology laboratories. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  7. KEYNOTE INVOLVEMENT OF GENETICS IN KNOWLEDGE, STOCK MANAGEMENT AND CONSERVATION OF AUSTROPOTAMOBIUS PALLIPES IN EUROPE

    Directory of Open Access Journals (Sweden)

    SOUTY-GROSSET C.

    2003-04-01

    Full Text Available In the past, conservation programmes for a given species consisted in restoring the habitat and in translocating individuals without knowledge of their taxonomic status. Even if managers wanted to be informed, the “traditional taxonomy”, based on morphological characters, was discouraging because it could indicate several types of classification. This is the case for Austropotamobius pallipes, considered as a species complex. Today, conservation genetics aims to maintain, on one hand, the genetic specificity of populations (genetic integrity principle and, on the other hand, the genetic diversity within and between populations (biodiversity principle, these basic principles being considered both at the level of protection measures and management measures. As an endangered species, A. pallipes is subjected to a loss of genetic diversity, a result of deterioration of water quality responsible for habitat fragmentation, with populations being confined to headwaters of the catchments. Consequently a certain degree of genetic variability must be maintained within the species because it governs the adaptation potential: the populations must be capable of responding to new environmental conditions. In A. pallipes, recent studies from several countries attempt to first describe the distribution of the present natural populations and secondly, by studying mitochondrial DNA, to clarify the taxonomy (number and identification of the present species and subspecies by phylogenetic inferences and to assess the biogeographical history. These two preliminary steps are fundamental before defining conservation units and working at the catchment level, using highly polymorphic nuclear markers. The new approach has provided a good framework for research, with more frequent dialogues between geneticists and managers.

  8. Genetic methods for area-wide management of Lepidopterous pests with emphasis on F1 sterility

    International Nuclear Information System (INIS)

    Ocampo, V.R.

    1996-01-01

    Enormous losses in the production and marketing of food and fiber are caused by larvae of Lepidoptera. Currently, large quantities of insecticides are used to combat these pests. Insecticide resistance, increasing concern over pesticide pollution, and the desire to effectively manage lepidopteran pests on an area-wide basis have motivated scientists to identify and develop new pest management tactics that are compatible with current IPM. Genetic methods have emerged as a promising control strategy for lepidopteran pests. Genetic control as a practical means of pest management was first successfully implemented by Knipling and colleagues in the USA during the 1960's with the sterile insect technique (SIT) program for the screwworm fly. SIT is not a readily adapted for use against Lepidoptera as against Diptera. Radiation-induced inherited sterility (or F 1 sterility) is generally considered the most promising genetic methods for large-scale suppression of lepidopteran populations. This papers discusses four genetic control methods that have been developed and the progress that has been made in integrating sterility with other IPM tactics. (author)

  9. How does genetic risk information for Lynch syndrome translate to risk management behaviours?

    Science.gov (United States)

    Steel, Emma; Robbins, Andrew; Jenkins, Mark; Flander, Louisa; Gaff, Clara; Keogh, Louise

    2017-01-01

    There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk information and advice to decisions about risk managment behaviours in the Australian healthcare system. Participants of the Australasian Colorectal Cancer Family Registry who had undergone predictive genetic testing for Lynch syndrome were interviewed on their risk management behaviours. Transcripts were analysed thematically using a comparative coding analysis. Thirty-three people were interviewed. Of the non-carriers ( n  = 16), 2 reported having apparently unnecessary colonoscopies, and 6 were unsure about what population-based colorectal cancer screening entails. Of the carriers ( n  = 17), 2 reported they had not had regular colonoscopies, and spoke about their discomfort with the screening process and a lack of faith in the procedure's ability to reduce their risk of developing colorectal cancer. Of the female carriers ( n  = 9), 2 could not recall being informed about the associated risk of gynaecological cancers. Non-carriers and female carriers of Lynch syndrome could benefit from further clarity and advice about appropriate risk management options. For those carriers who did not adhere to colonoscopy screening, a lack of faith in both genetic test results and screening were evident. It is essential that consistent advice is offered to both carriers and non-carriers of Lynch syndrome.

  10. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  11. Familial dyslipidaemias: an overview of genetics, pathophysiology and management.

    Science.gov (United States)

    Hachem, Sahar B; Mooradian, Arshag D

    2006-01-01

    Plasma lipid disorders can occur either as a primary event or secondary to an underlying disease or use of medications. Familial dyslipidaemias are traditionally classified according to the electrophoretic profile of lipoproteins. In more recent texts, this phenotypic classification has been replaced with an aetiological classification. Familial dyslipidaemias are generally grouped into disorders leading to hypercholesterolaemia, hypertriglyceridaemia, a combination of hyper-cholesterolaemia and hypertriglyceridaemia, or abnormal high-density lipoprotein-cholesterol (HDL-C) levels. The management of these disorders requires an understanding of plasma lipid and lipoprotein metabolism. Lipid transport and metabolism involves three general pathways: (i) the exogenous pathway, whereby chylomicrons are synthesised by the small intestine, and dietary triglycerides (TGs) and cholesterol are transported to various cells of the body; (ii) the endogenous pathway, whereby very low-density lipoprotein-cholesterol (VLDL-C) and TGs are synthesised by the liver for transport to various tissues; and (iii) the reverse cholesterol transport, whereby HDL cholesteryl ester is exchanged for TGs in low-density lipoptrotein (LDL) and VLDL particles through cholesteryl ester transfer protein in a series of steps to remove cholesterol from the peripheral tissues for delivery to the liver and steroidogenic organs. The plasma lipid profile can provide a framework to guide the selection of appropriate diet and drug treatment. Many patients with hyperlipoproteinaemia can be treated effectively with diet. However, dietary regimens are often insufficient to bring lipoprotein levels to within acceptable limits. In this article, we review lipid transport and metabolism, discuss the more common lipid disorders and suggest some management guidelines. The choice of a particular agent depends on the baseline lipid profile achieved after 6-12 weeks of intense lifestyle changes and possible use of

  12. [Dual pathology].

    Science.gov (United States)

    Rougier, A

    2008-05-01

    Dual pathology is defined as the association of two potentially epileptogenic lesions, hippocampal (sclerosis, neuronal loss) and extrahippocampal (temporal or extratemporal). Epileptic activity may be generated by either lesion and the relative importance of every lesion's epileptogenicity conditions the surgical strategy adopted. Most frequently associated with hippocampal sclerosis are cortical dysplasias. The common physiopathology of the two lesions is not clearly established. Extrahippocampal lesions may be undetectable on MRI (microdysgenesis, for example) and ictal discharge patterns may vary among dual pathology patients. The surgical strategy depends on the location of the extrahippocampal lesion and its relative role in seizure generation; however, reported surgical results suggest that simultaneous resection of mesial temporal structures along with the extrahippocampal lesion should be performed.

  13. Microglial pathology

    OpenAIRE

    Streit, Wolfgang J; Xue, Qing-Shan; Tischer, Jasmin; Bechmann, Ingo

    2014-01-01

    This paper summarizes pathological changes that affect microglial cells in the human brain during aging and in aging-related neurodegenerative diseases, primarily Alzheimer’s disease (AD). It also provides examples of microglial changes that have been observed in laboratory animals during aging and in some experimentally induced lesions and disease models. Dissimilarities and similarities between humans and rodents are discussed in an attempt to generate a current understanding of microglial ...

  14. Value of conventional, and diffusion- and perfusion weighted MRI in the management of patients with unclear cerebral pathology, admitted to the intensive care unit

    International Nuclear Information System (INIS)

    Sundgren, P.C.; Reinstrup, P.; Romner, B.; Holtaas, S.; Maly, P.

    2002-01-01

    The aim of our retrospective study was to determine the extent to which diffusion- and perfusion- weighted MRI combined with conventional MRI could be helpful in the evaluation of intensive care unit (ICU) patients who have unknown or unclear cerebral pathology underlying a serious clinical condition. Twenty-one ICU patients with disparity between the findings on brain CT scan and their clinical status were studied. All patients underwent conventional MR and diffusion-weighted imaging and 14 also had MR perfusion studies. Abnormalities were present on diffusion-weighted imaging of 17 of the 21 patients and on perfusion-weighted studies of 7 of 14 patients. The MRI results changed the preliminary/working diagnosis in six patients. In eight other patients, MRI revealed additional pathology that had not been suspected clinically, and/or characterized more closely findings that had already been detected by CT or suspected clinically. MRI showed abnormalities in four of the five patients who had normal CT. MRI findings suggested a negative clinical outcome in all nine patients who subsequently died. MRI findings also suggested positive long-term outcome in five of nine patients who improved significantly as based on Glasgow and extended Glasgow outcome scales. In the three unconscious patients who had normal diffusion- and perfusion-weighted imaging the clinical outcome was good. This study suggests that MRI in seriously ill ICU patients with unclear cerebral pathology can provide information that changes, characterizes, or supports diagnoses and/or prognoses and therefore facilitates further management. (orig.)

  15. Are Leadership and Management Essential for Good Research? An Interview Study of Genetic Researchers.

    Science.gov (United States)

    Antes, Alison L; Mart, Adelina; DuBois, James M

    2016-12-01

    Principal investigators are responsible for a myriad of leadership and management activities in their work. The practices they use to navigate these responsibilities ultimately influence the quality and integrity of research. However, leadership and management roles in research have received scant empirical examination. Semi-structured interviews with 32 National Institutes of Health (NIH)-funded genetic researchers revealed that they considered leadership and management essential for effective research, but their scientific training inadequately prepared them. We also report management practices that the researchers described using in their labs, as well as their perceptions of a proposed intervention to enhance laboratory leadership. These findings suggest best practices for the research community, future directions for scientific training, and implications for research on leadership and management in science.

  16. Are Leadership and Management Essential for Good Research? An Interview Study of Genetic Researchers

    Science.gov (United States)

    Antes, Alison L.; Mart, Adelina; DuBois, James M.

    2016-01-01

    Principal investigators are responsible for a myriad of leadership and management activities in their work. The practices they employ to navigate these responsibilities ultimately influence the quality and integrity of research. However, leadership and management roles in research have received scant empirical examination. Semi-structured interviews with 32 National Institutes of Health (NIH)-funded genetic researchers revealed that they considered leadership and management essential for effective research, but their scientific training inadequately prepared them. We also report management practices that the researchers described employing in their labs, as well as their perceptions of a proposed intervention to enhance laboratory leadership. These findings suggest best practices for the research community, future directions for scientific training, and implications for research on leadership and management in science. PMID:27646401

  17. Approaches to quality management and accreditation in a genetic testing laboratory

    Science.gov (United States)

    Berwouts, Sarah; Morris, Michael A; Dequeker, Elisabeth

    2010-01-01

    Medical laboratories, and specifically genetic testing laboratories, provide vital medical services to different clients: clinicians requesting a test, patients from whom the sample was collected, public health and medical-legal instances, referral laboratories and authoritative bodies. All expect results that are accurate and obtained in an efficient and effective manner, within a suitable time frame and at acceptable cost. There are different ways of achieving the end results, but compliance with International Organization for Standardization (ISO) 15189, the international standard for the accreditation of medical laboratories, is becoming progressively accepted as the optimal approach to assuring quality in medical testing. We present recommendations and strategies designed to aid genetic testing laboratories with the implementation of a quality management system, including key aspects such as document control, external quality assessment, internal quality control, internal audit, management review, validation, as well as managing the human side of change. The focus is on pragmatic approaches to attain the levels of quality management and quality assurance required for accreditation according to ISO 15189, within the context of genetic testing. Attention is also given to implementing efficient and effective quality improvement. PMID:20720559

  18. Genetics and Genomics: Discovery, Validation, and Utility of Novel Tools for management of Prostate Cancer

    Directory of Open Access Journals (Sweden)

    Alan W. Shindel

    2017-01-01

    Full Text Available Genomics is the science of how genes influence human health and disease states. It differs from traditional genetic screening in that the transcriptional activity (or other markers in full panels of related genes are studied. Compared to simple genetic testing, assessment of expression levels in a panel of genes provides a more nuanced and holistic understanding of genetic modulation of human disease. Genomic testing may be used to great effect in resolving controversial questions on detection and treatment of prostate cancer. Genomic tests are currently in use for numerous facets of prostate cancer care, including screening, biopsy, and treatment planning. The clinical validity (predictive capacity of these assays has been well established; studies on clinical utility (i.e. usefulness of these tests in guiding patient/provider decisions have shown promising results. Men’s health specialists should be familiar with the role genomic testing will play in contemporary management of prostate cancer.

  19. A multi-objective genetic approach to domestic load scheduling in an energy management system

    International Nuclear Information System (INIS)

    Soares, Ana; Antunes, Carlos Henggeler; Oliveira, Carlos; Gomes, Álvaro

    2014-01-01

    In this paper a multi-objective genetic algorithm is used to solve a multi-objective model to optimize the time allocation of domestic loads within a planning period of 36 h, in a smart grid context. The management of controllable domestic loads is aimed at minimizing the electricity bill and the end-user’s dissatisfaction concerning two different aspects: the preferred time slots for load operation and the risk of interruption of the energy supply. The genetic algorithm is similar to the Elitist NSGA-II (Nondominated Sorting Genetic Algorithm II), in which some changes have been introduced to adapt it to the physical characteristics of the load scheduling problem and improve usability of results. The mathematical model explicitly considers economical, technical, quality of service and comfort aspects. Illustrative results are presented and the characteristics of different solutions are analyzed. - Highlights: • A genetic algorithm similar to the NSGA-II is used to solve a multi-objective model. • The optimized time allocation of domestic loads in a smart grid context is achieved. • A variable preference profile for the operation of the managed loads is included. • A safety margin is used to account for the quality of the energy services provided. • A non-dominated front with the solutions in the two-objective space is obtained

  20. HNPCC (Lynch Syndrome: Differential Diagnosis, Molecular Genetics and Management - a Review

    Directory of Open Access Journals (Sweden)

    Lynch Henry T

    2003-12-01

    Full Text Available Abstract HNPCC (Lynch syndrome is the most common form of hereditary colorectal cancer (CRC, wherein it accounts for between 2-7 percent of the total CRC burden. When considering the large number of extracolonic cancers integral to the syndrome, namely carcinoma of the endometrium, ovary, stomach, hepatobiliary system, pancreas, small bowel, brain tumors, and upper uroepithelial tract, these estimates of its frequency are likely to be conservative. The diagnosis is based upon its natural history in concert with a comprehensive cancer family history inclusive of all anatomic sites. In order for surveillance and management to be effective and, indeed, lifesaving, among these high-risk patients, the linchpin to cancer control would be the physician, who must be knowledgeable about hereditary cancer syndromes, their molecular and medical genetics, genetic counseling, and, most importantly, the natural history of the disorders, so that the entirety of this knowledge can be melded to highly-targeted management.

  1. HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management - a Review

    Science.gov (United States)

    2003-01-01

    HNPCC (Lynch syndrome) is the most common form of hereditary colorectal cancer (CRC), wherein it accounts for between 2-7 percent of the total CRC burden. When considering the large number of extracolonic cancers integral to the syndrome, namely carcinoma of the endometrium, ovary, stomach, hepatobiliary system, pancreas, small bowel, brain tumors, and upper uroepithelial tract, these estimates of its frequency are likely to be conservative. The diagnosis is based upon its natural history in concert with a comprehensive cancer family history inclusive of all anatomic sites. In order for surveillance and management to be effective and, indeed, lifesaving, among these high-risk patients, the linchpin to cancer control would be the physician, who must be knowledgeable about hereditary cancer syndromes, their molecular and medical genetics, genetic counseling, and, most importantly, the natural history of the disorders, so that the entirety of this knowledge can be melded to highly-targeted management.

  2. Genetic diversity and structure of Megabalanus azoricus in the Azores: Implications for aquaculture management

    Science.gov (United States)

    De Girolamo, Mirko; Torboli, Valentina; Pallavicini, Alberto; Isidro, Eduardo

    2017-11-01

    Megabalanus azoricus giant barnacles are the most traditional seafood of the Azores archipelago (NE Atlantic). This valuable commercial species has been highly exploited in the past and it is considered one of the key species for the development of aquaculture in the region. Despite the importance for conservation and aquaculture there is still a lack of basic information about M. azoricus genetic diversity and population structure. Here we used seven microsatellites markers to analyse 300 samples collected at six out of nine islands of the Azores archipelago, including also different locations from a single island, to provide information on the scale of genetic diversity and population structure of this species. Parameters like heterozygosity, allelic richness and effective number of alleles indicated a high genetic diversity and variability among islands. Pairwise comparisons and PCoA analysis on FST and Jost's DEST showed significant and evident differentiation among sampling locations. Additionally, AMOVA allocates a small (6.02%) but statistically significant portion of the variance to the among Island level revealing also a weak resolution (1.87%) at finer scale. Additionally Monte Carlo resampling methods indicated the most likely sources of the recruits were the local or adjacent populations. Genetic risks associated with the giant barnacle potential production scheme should be taken into account in a future management plan delimiting, as precautionary measure, this culture at a single island or at groups of islands here identified. Moreover a monitoring strategy should be implemented with the aim to evaluate possible changes in genetic parameters of native populations.

  3. Oral toxicity management in head and neck cancer patients treated with chemotherapy and radiation: Dental pathologies and osteoradionecrosis (Part 1) literature review and consensus statement.

    Science.gov (United States)

    Buglione, Michela; Cavagnini, Roberta; Di Rosario, Federico; Sottocornola, Lara; Maddalo, Marta; Vassalli, Lucia; Grisanti, Salvatore; Salgarello, Stefano; Orlandi, Ester; Paganelli, Corrado; Majorana, Alessandra; Gastaldi, Giorgio; Bossi, Paolo; Berruti, Alfredo; Pavanato, Giovanni; Nicolai, Piero; Maroldi, Roberto; Barasch, Andrei; Russi, Elvio G; Raber-Durlacher, Judith; Murphy, Barbara; Magrini, Stefano M

    2016-01-01

    Radiotherapy alone or in combination with chemotherapy and/or surgery is the typical treatment for head and neck cancer patients. Acute side effects (such as oral mucositis, dermatitis, salivary changes, taste alterations, etc.), and late toxicities in particular (such as osteo-radionecrosis, hypo-salivation and xerostomia, trismus, radiation caries etc.), are often debilitating. These effects tend to be underestimated and insufficiently addressed in the medical community. A multidisciplinary group of head and neck cancer specialists met in Milan with the aim of reaching a consensus on clinical definitions and management of these toxicities. The Delphi Appropriateness method was used for developing the consensus, and external experts evaluated the conclusions. This paper contains 10 clusters of statements about the clinical definitions and management of head and neck cancer treatment sequels (dental pathologies and osteo-radionecroses) that reached consensus, and offers a review of the literature about these topics. The review was split into two parts: the first part dealt with dental pathologies and osteo-radionecroses (10 clusters of statements), whereas this second part deals with trismus and xerostomia. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  4. Genetic algorithm for the optimization of the loading pattern for reactor core fuel management

    International Nuclear Information System (INIS)

    Zhou Sheng; Hu Yongming; zheng Wenxiang

    2000-01-01

    The paper discusses the application of a genetic algorithm to the optimization of the loading pattern for in-core fuel management with the NP characteristics. The algorithm develops a matrix model for the fuel assembly loading pattern. The burnable poisons matrix was assigned randomly considering the distributed nature of the poisons. A method based on the traveling salesman problem was used to solve the problem. A integrated code for in-core fuel management was formed by combining this code with a reactor physics code

  5. The challenges and promises of genetic approaches for ballast water management

    Science.gov (United States)

    Rey, Anaïs; Basurko, Oihane C.; Rodríguez-Ezpeleta, Naiara

    2018-03-01

    Ballast water is a main vector of introduction of Harmful Aquatic Organisms and Pathogens, which includes Non-Indigenous Species. Numerous and diversified organisms are transferred daily from a donor to a recipient port. Developed to prevent these introduction events, the International Convention for the Control and Management of Ships' Ballast Water and Sediments will enter into force in 2017. This international convention is asking for the monitoring of Harmful Aquatic Organisms and Pathogens. In this review, we highlight the urgent need to develop cost-effective methods to: (1) perform the biological analyses required by the convention; and (2) assess the effectiveness of two main ballast water management strategies, i.e. the ballast water exchange and the use of ballast water treatment systems. We have compiled the biological analyses required by the convention, and performed a comprehensive evaluation of the potential and challenges of the use of genetic tools in this context. Following an overview of the studies applying genetic tools to ballast water related research, we present metabarcoding as a relevant approach for early detection of Harmful Aquatic Organisms and Pathogens in general and for ballast water monitoring and port risk assessment in particular. Nonetheless, before implementation of genetic tools in the context of the ballast water management convention, benchmarked tests against traditional methods should be performed, and standard, reproducible and easy to apply protocols should be developed.

  6. Microglial pathology.

    Science.gov (United States)

    Streit, Wolfgang J; Xue, Qing-Shan; Tischer, Jasmin; Bechmann, Ingo

    2014-09-26

    This paper summarizes pathological changes that affect microglial cells in the human brain during aging and in aging-related neurodegenerative diseases, primarily Alzheimer's disease (AD). It also provides examples of microglial changes that have been observed in laboratory animals during aging and in some experimentally induced lesions and disease models. Dissimilarities and similarities between humans and rodents are discussed in an attempt to generate a current understanding of microglial pathology and its significance during aging and in the pathogenesis of Alzheimer dementia (AD). The identification of dystrophic (senescent) microglia has created an ostensible conflict with prior work claiming a role for activated microglia and neuroinflammation during normal aging and in AD, and this has raised a basic question: does the brain's immune system become hyperactive (inflamed) or does it become weakened (senescent) in elderly and demented people, and what is the impact on neuronal function and cognition? Here we strive to reconcile these seemingly contradictory notions by arguing that both low-grade neuroinflammation and microglial senescence are the result of aging-associated free radical injury. Both processes are damaging for microglia as they synergistically exhaust this essential cell population to the point where the brain's immune system is effete and unable to support neuronal function.

  7. Integrating genetic data and population viability analyses for the identification of harbour seal (Phoca vitulina) populations and management units

    DEFF Research Database (Denmark)

    Olsen, Morten Tange; Andersen, Liselotte Wesley; Dietz, Rune

    2014-01-01

    present a novel approach, integrating genetic, life-history and demographic data to identify populations and management units in southern Scandinavian harbour seals. First, 15 microsatellite markers and model- and distance-based genetic clustering methods were used to determine the population genetic...... structure in harbour seals. Second, we used harbour seal demographic and life-history data to conduct population viability analyses (PVAs) in the VORTEX simulation model in order to determine whether the inferred genetic units could be classified as management units according to Lowe and Allendorf's (2010......, and that the combined use of genetic data and PVAs constitute a promising approach for delineating populations and management units. This article is protected by copyright. All rights reserved....

  8. Dynamics of clinical semiotics in children with pathological tortuosity of internal carotid arteries in remote period after surgical management.

    Science.gov (United States)

    Shoĭkhet, Ya N; Khorev, N G; Kulikova, N I; Beller, A V; Kulikov, V P; Miller, V E

    2010-01-01

    The present study enrolling a total of eighty-eight 4-to-16-year-old children and adolescents was aimed at detailed elaboration and formalization of clinical signs of the internal carotid artery pathological kinking syndrome. To achieve these objectives, the authors carried out a comparative analysis of clinical manifestations of the disease in the surgically treated subjects (constituting the Surgery Group comprising 43 children and adolescents) and non-operated patients (making up the Comparison Group consisting of 45 age- and gender-matched subjects). There were no baseline differences in the incidence rate of clinical syndromes and symptoms between the groups of the would-be operated and conservatively treated patients. Also studied were the remote outcomes (1-to-12-year follow up) of surgical correction for pathological tortuosity of the internal carotid artery. The incidence rate of regression of neurological symptomatology along different clinical signs after surgery was shown to vary within a wide range from 11.6% to 96.3%. Resection of the proximal portion of the internal carotid artery with re-implantation into the old ostium turned out to be clinically effective in 90.0% of cases, with the haemodynamic efficacy amounting to 83.3%. Arteriolysis of the internal carotid artery rendered a clinical effect in 75% of cases, with a haemodynamical effect thereof equalling 25.0%. The decision as to the type of a surgical intervention to perform was primarily made based on the findings of angiography of the internal carotid artery. The operation of arteriolysis did not lead to deterioration of the child's condition.

  9. The ins and outs of molecular pathology reporting.

    Science.gov (United States)

    Tack, Véronique; Dufraing, Kelly; Deans, Zandra C; van Krieken, Han J; Dequeker, Elisabeth M C

    2017-08-01

    The raid evolution in molecular pathology resulting in an increasing complexity requires careful reporting. The need for standardisation is clearer than ever. While synoptic reporting was first used for reporting hereditary genetic diseases, it is becoming more frequent in pathology, especially molecular pathology reports too. The narrative approach is no longer feasible with the growing amount of essential data present on the report, although narrative components are still necessary for interpretation in molecular pathology. On the way towards standardisation of reports, guidelines can be a helpful tool. There are several guidelines that focus on reporting in the field of hereditary diseases, but it is not always feasible to extrapolate these to the reporting of somatic variants in molecular pathology. The rise of multi-gene testing causes challenges for the laboratories. In order to provide a continuous optimisation of the laboratory testing process, including reporting, external quality assessment is essential and has already proven to improve the quality of reports. In general, a clear and concise report for molecular pathology can be created by including elements deemed important by different guidelines, adapting the report to the process flows of the laboratory and integrating the report with the laboratory information management system and the patient record.

  10. Spatial genetic structure within populations and management implications of the South American species Acacia aroma (Fabaceae).

    Science.gov (United States)

    Pometti, Carolina; Bessega, Cecilia; Cialdella, Ana; Ewens, Mauricio; Saidman, Beatriz; Vilardi, Juan

    2018-01-01

    The identification of factors that structure intraspecific diversity is of particular interest for biological conservation and restoration ecology. All rangelands in Argentina are currently experiencing some form of deterioration or desertification. Acacia aroma is a multipurpose species widely distributed throughout this country. In this study, we used the AFLP technique to study genetic diversity, population genetic structure, and fine-scale spatial genetic structure in 170 individuals belonging to 6 natural Argentinean populations. With 401 loci, the mean heterozygosity (HE = 0.2) and the mean percentage of polymorphic loci (PPL = 62.1%) coefficients indicated that the genetic variation is relatively high in A. aroma. The analysis with STRUCTURE showed that the number of clusters (K) was 3. With Geneland analysis, the number of clusters was K = 4, sharing the same grouping as STRUCTURE but dividing one population into two groups. When studying SGS, significant structure was detected in 3 of 6 populations. The neighbourhood size in these populations ranged from 15.2 to 64.3 individuals. The estimated gene dispersal distance depended on the effective population density and disturbance level and ranged from 45 to 864 m. The combined results suggest that a sampling strategy, which aims to maintain a considerable part of the variability contained in natural populations sampled here, would include at least 3 units defined by the clusters analyses that exhibit particular genetic properties. Moreover, the current SGS analysis suggests that within the wider management units/provinces, seed collection from A. aroma should target trees separated by a minimum distance of 50 m but preferably 150 m to reduce genetic relatedness among seeds from different trees.

  11. [Pathologic gambling].

    Science.gov (United States)

    Nespor, K

    1996-01-31

    The author presents a review on pathological gambling. Similarly as in other addictive diseases, early therapeutic intervention is important. The latter may include: 1: Evaluation of the problem 2. Recommendation that the subject should avoid places where the gambling is pursued. He should not have larger financial sums on him. 3. Recommendations pertaining to lifestyle and prevention of excessive stress. 4. Handling of printed material (the author mentions the text issued to his patients). In the paper therapeutic procedures are described, incl. the author's experience such as the foundation of the group of Gamblers anonymous. Prevention is also considered. It is important that gambling should be less readily available and the demand for it should be smaller.

  12. Beliefs about genetic influences on eating behaviors: Characteristics and associations with weight management confidence.

    Science.gov (United States)

    Persky, Susan; Bouhlal, Sofia; Goldring, Megan R; McBride, Colleen M

    2017-08-01

    The development of precision approaches for customized health interventions is a promising application of genomic discovery. To optimize such weight management interventions, target audiences will need to be engaged in research and implementation efforts. Investigation into approaches that engage these audiences will be required to ensure that genomic information, particularly with respect to genomic influences on endophenotypes like eating behavior, is understood and accepted, and not associated with unintended adverse outcomes. We took steps to characterize healthy individuals' beliefs about genetic influences on eating behavior. Data were collected via online survey from 261 participants selected at random from a database. Respondents infrequently spontaneously identified eating behavior-related factors as running in families. However, those who perceived themselves as overweight and perceived a family history of overweight were more likely to attribute eating behavior to genetics on closed-ended assessments, β=0.252, p=0.039. Genetic attributions for eating behaviors were associated with lower confidence in ability to control eating and weight, β=-0.119, p=0.035. These exploratory findings shed light on beliefs about genetic influences on eating, a behavioral trait (rather than a disease). This investigation can inform future health intervention efforts. Published by Elsevier Ltd.

  13. Management applications of genetic structure of anadromous sturgeon populations in the Lower Danube River (LDR, Romania

    Directory of Open Access Journals (Sweden)

    ONĂRĂ Dalia Florentina

    2013-12-01

    Full Text Available During the last decades, the over-exploitation of sturgeon stocks for caviar production simultaneously with severe habitat deteriorations has led to drastic declines in the natural populations of the Danube River. As a result of (i decrease of sturgeon catches from 37.5 tons in year 2002 to 11.8 tons in year 2005, (ii disrupted age class structure of sturgeon adult cohorts in years 2003 and 2004, and (iii lack or low recruitment in the period 2001 – 2004, in 2005 the Romanian Government started the Supportive Stocking Program of Lower Danube River with hatchery-produced young sturgeons in Romania. Subsequently, in 2006 the commercial sturgeon fishing in Romania was banned for a 10-year period. Genetic investigations were undertaken as an attempt to assess the genetic variability of the sturgeon brood fish, captured from the wild, used in two aquaculture facilities in Romania for obtaining juveniles for supportive stocking of LDR with young sturgeons produced by artificial propagation in year 2007. Our data indicate strong genetic diversity in case of stellate sturgeon and lack of diversity within the batch of beluga sturgeon brood fish captured in 2007, analyzed in the current study. Specific measures that could improve the management plan of sturgeon brood fish in the Romanian part of LDR in the light of recent FAO guidelines regarding the sturgeon hatchery practices and management for release were suggested

  14. Genetic polymorphism rs3760396 of the chemokine (C-C motif) ligand 2 gene (CCL2) associated with the susceptibility of lung cancer in a pathological subtype-specific manner in Han-ancestry Chinese: a case control study

    International Nuclear Information System (INIS)

    Li, Xu; Lin, Fangcai; Zhou, Hong

    2016-01-01

    Chemokines are well known inflammatory factors critical for tumor development in diverse tissues, including lung cancer. Chemokine (C-C motif) Ligand 2 (CCL2) was one of such chemokines important for both primary tumor development and metastasis of various cancers. Polymorphism at rs3760396 of CCL2 genes is associated with the prognosis of non-small cell lung cancer (NSCLC). The goal of our study was to examine the relationship of genetic polymorphisms rs3760396 with the susceptibility of lung cancer and its pathological subtypes in Han-ancestry Chinese population. rs3760396 G/C polymorphism of CCL2 was genotyped using PCR in 394 patients with lung cancer and 545 cancer-free controls from the same Northeast region of China. After controlling for gender, age and smoking status, no significant association was observed between rs3760396 polymorphism and overall lung cancer. However, minor allele G of rs3760396 polymorphism was significantly associated with increased risk of adenosquamous lung carcinoma with either allelic genetic model (OR = 5.29, P < 0.001), or dominant genetic model (OR = 9.88, P < 0.001), or genotypic model (GC genotype vs. CC genotype, OR = 10.73, P < 0.001). Although rs3760396 polymorphism was not significantly associated with increased risk of adenocarcinoma subtype, it was nominally associated with the pooled outcome of either adenocarcinoma or adenosquamous carcinoma under allelic genetic model (OR = 1.54, P = 0.023) or dominant genetic model (OR = 1.57, P = 0.031). Our study suggested rs3760396 polymorphism of CCL2 is associated not only with prognosis of NSCLC, but also with risk of lung cancer in a subtype-specific manner. Our results further supported previous evidence of the important role of CCL2 in lung cancer development

  15. Defining management units for cetaceans by combining genetics, morphlogy, acoustics and satellite tracking

    DEFF Research Database (Denmark)

    Sveegaard, Signe; Galatius, Anders; Dietz, Rune

    2015-01-01

    Managing animal units is essential in biological conservation and requires spatial and temporal identification of such units. Since even neighbouring populations often have different conservation status and face different levels of anthropogenic pressure, detailed knowledge of population structure......, seasonal range and overlap with animals from neighbouring populations is required to manage each unit separately. Previous studies on genetic structure and morphologic separation suggests three distinct populations of harbour porpoises with limited geographic overlap in the North Sea (NS), the Belt Sea (BS...... with the least overlap between populations and thus the least error when abundance and population status is estimated. Discriminant analysis of the satellite tracking data from the BS and NS populations showed that the best fit of the management unit border during the summer months was an east-west line from...

  16. Defining management units for cetaceans by combining genetics, morphology, acoustics and satellite tracking

    Directory of Open Access Journals (Sweden)

    Signe Sveegaard

    2015-01-01

    Full Text Available Managing animal units is essential in biological conservation and requires spatial and temporal identification of such units. Since even neighbouring populations often have different conservation status and face different levels of anthropogenic pressure, detailed knowledge of population structure, seasonal range and overlap with animals from neighbouring populations is required to manage each unit separately. Previous studies on genetic structure and morphologic separation suggests three distinct populations of harbour porpoises with limited geographic overlap in the North Sea (NS, the Belt Sea (BS and the Baltic Proper (BP region. In this study, we aim to identify a management unit for the BS population of harbour porpoises. We use Argos satellite data and genetics from biopsies of tagged harbour porpoises as well as acoustic data from 40 passive acoustic data loggers to determine management areas with the least overlap between populations and thus the least error when abundance and population status is estimated. Discriminant analysis of the satellite tracking data from the BS and NS populations showed that the best fit of the management unit border during the summer months was an east–west line from Denmark to Sweden at latitude 56.95°N. For the border between BS and BP, satellite tracking data indicate a sharp decline in population density at 13.5°E, with 90% of the locations being west of this line. This was supported by the acoustic data with the average daily detection rate being 27.5 times higher west of 13.5°E as compared to east of 13.5°E. By using this novel multidisciplinary approach, we defined a management unit for the BS harbour porpoise population. We recommend that these boundaries are used for future monitoring efforts of this population under the EU directives. The boundaries may also be used for conservation efforts during the summer months, while seasonal movements of harbour porpoises should be considered during

  17. Genetic structure of farmer-managed varieties in clonally-propagated crops.

    Science.gov (United States)

    Scarcelli, N; Tostain, S; Vigouroux, Y; Luong, V; Baco, M N; Agbangla, C; Daïnou, O; Pham, J L

    2011-08-01

    The relative role of sexual reproduction and mutation in shaping the diversity of clonally propagated crops is largely unknown. We analyzed the genetic diversity of yam-a vegetatively-propagated crop-to gain insight into how these two factors shape its diversity in relation with farmers' classifications. Using 15 microsatellite loci, we analyzed 485 samples of 10 different yam varieties. We identified 33 different genotypes organized in lineages supported by high bootstrap values. We computed the probability that these genotypes appeared by sexual reproduction or mutation within and between each lineage. This allowed us to interpret each lineage as a product of sexual reproduction that has evolved by mutation. Moreover, we clearly noted a similarity between the genetic structure and farmers' classifications. Each variety could thus be interpreted as being the product of sexual reproduction having evolved by mutation. This highly structured diversity of farmer-managed varieties has consequences for the preservation of yam diversity.

  18. Pathological fractures in children

    Science.gov (United States)

    De Mattos, C. B. R.; Binitie, O.; Dormans, J. P.

    2012-01-01

    Pathological fractures in children can occur as a result of a variety of conditions, ranging from metabolic diseases and infection to tumours. Fractures through benign and malignant bone tumours should be recognised and managed appropriately by the treating orthopaedic surgeon. The most common benign bone tumours that cause pathological fractures in children are unicameral bone cysts, aneurysmal bone cysts, non-ossifying fibromas and fibrous dysplasia. Although pathological fractures through a primary bone malignancy are rare, these should be recognised quickly in order to achieve better outcomes. A thorough history, physical examination and review of plain radiographs are crucial to determine the cause and guide treatment. In most benign cases the fracture will heal and the lesion can be addressed at the time of the fracture, or after the fracture is healed. A step-wise and multidisciplinary approach is necessary in caring for paediatric patients with malignancies. Pathological fractures do not have to be treated by amputation; these fractures can heal and limb salvage can be performed when indicated. PMID:23610658

  19. The future: genetics advances in MEN1 therapeutic approaches and management strategies.

    Science.gov (United States)

    Agarwal, Sunita K

    2017-10-01

    The identification of the multiple endocrine neoplasia type 1 ( MEN1 ) gene in 1997 has shown that germline heterozygous mutations in the MEN1 gene located on chromosome 11q13 predisposes to the development of tumors in the MEN1 syndrome. Tumor development occurs upon loss of the remaining normal copy of the MEN1 gene in MEN1-target tissues. Therefore, MEN1 is a classic tumor suppressor gene in the context of MEN1. This tumor suppressor role of the protein encoded by the MEN1 gene, menin, holds true in mouse models with germline heterozygous Men1 loss, wherein MEN1-associated tumors develop in adult mice after spontaneous loss of the remaining non-targeted copy of the Men1 gene. The availability of genetic testing for mutations in the MEN1 gene has become an essential part of the diagnosis and management of MEN1. Genetic testing is also helping to exclude mutation-negative cases in MEN1 families from the burden of lifelong clinical screening. In the past 20 years, efforts of various groups world-wide have been directed at mutation analysis, molecular genetic studies, mouse models, gene expression studies, epigenetic regulation analysis, biochemical studies and anti-tumor effects of candidate therapies in mouse models. This review will focus on the findings and advances from these studies to identify MEN1 germline and somatic mutations, the genetics of MEN1-related states, several protein partners of menin, the three-dimensional structure of menin and menin-dependent target genes. The ongoing impact of all these studies on disease prediction, management and outcomes will continue in the years to come. © 2017 Society for Endocrinology.

  20. Managing major data of genetically modified mice: from scientific demands to legal obligations.

    Science.gov (United States)

    Staudt, Michael; Trauth, Jürgen; Hindi, Iris El; Galuschka, Claudia; Sitek, Dagmar; Schenkel, Johannes

    2012-10-01

    The number of genetically modified mice is increasing rapidly. Several limitations when working with these animals are to be considered: small colonies, the continued danger of loss, often a limited breeding-success, the need to keep those mutants in stock, difficult and costly import-procedures, and also a major (scientific) value of those mutants often available only with major restrictions. To gather relevant information about all active and archived genetically modified mouse lines available in-house (>1.500) and to deal with a unique resource for several, quite different purposes, a data base was developed enabling optimum knowledge management and easy access. The data base covers also legal restraints and is being linked with the institutional publication repository. To identify the lines available detailed information is provided for each line, as the international designation, a short name, the characterization/description, and the genetic modification including the technique used therefore. The origin of the mutation (gene-ID# and donor organism), the origin of regulatory elements and their donors are listed as well as the genetic background, back-cross generation, phenotype, possible publications, keywords, and some in-house information. Also aspects of animal welfare, obligations to record genetically modified organisms, and technology transfer are displayed; the latter to make licenses possible (if legally permitted). Material transfer agreements, patents, or legal restrictions are listed. This data base helps to avoid double-imports, saves animals and costs since a redundant generation or import can be omitted. However, this is a contribution to the 3R principles developed by Russell and Burch.

  1. Risk management: correct patient and specimen identification in a surgical pathology laboratory. The experience of Infermi Hospital, Rimini, Italy.

    Science.gov (United States)

    Fabbretti, G

    2010-06-01

    Because of its complex nature, surgical pathology practice is prone to error. In this report, we describe our methods for reducing error as much as possible during the pre-analytical and analytical phases. This was achieved by revising procedures, and by using computer technology and automation. Most mistakes are the result of human error in the identification and matching of patient and samples. To avoid faulty data interpretation, we employed a new comprehensive computer system that acquires all patient ID information directly from the hospital's database with a remote order entry; it also provides label and request forms via-Web where clinical information is required before sending the sample. Both patient and sample are identified directly and immediately at the site where the surgical procedures are performed. Barcode technology is used to input information at every step and automation is used for sample blocks and slides to avoid errors that occur when information is recorded or transferred by hand. Quality control checks occur at every step of the process to ensure that none of the steps are left to chance and that no phase is dependent on a single operator. The system also provides statistical analysis of errors so that new strategies can be implemented to avoid repetition. In addition, the staff receives frequent training on avoiding errors and new developments. The results have been shown promising results with a very low error rate (0.27%). None of these compromised patient health and all errors were detected before the release of the diagnosis report.

  2. A genetic-algorithm-aided stochastic optimization model for regional air quality management under uncertainty.

    Science.gov (United States)

    Qin, Xiaosheng; Huang, Guohe; Liu, Lei

    2010-01-01

    A genetic-algorithm-aided stochastic optimization (GASO) model was developed in this study for supporting regional air quality management under uncertainty. The model incorporated genetic algorithm (GA) and Monte Carlo simulation techniques into a general stochastic chance-constrained programming (CCP) framework and allowed uncertainties in simulation and optimization model parameters to be considered explicitly in the design of least-cost strategies. GA was used to seek the optimal solution of the management model by progressively evaluating the performances of individual solutions. Monte Carlo simulation was used to check the feasibility of each solution. A management problem in terms of regional air pollution control was studied to demonstrate the applicability of the proposed method. Results of the case study indicated the proposed model could effectively communicate uncertainties into the optimization process and generate solutions that contained a spectrum of potential air pollutant treatment options with risk and cost information. Decision alternatives could be obtained by analyzing tradeoffs between the overall pollutant treatment cost and the system-failure risk due to inherent uncertainties.

  3. Genetics of host response to Leishmania tropica in mice - different control of skin pathology, chemokine reaction, and iInvasion into spleen and liver

    Czech Academy of Sciences Publication Activity Database

    Kobets, Tetyana; Havelková, Helena; Grekov, Igor; Volkova, Valeriya; Vojtíšková, Jarmila; Slapničková, Martina; Kurey, Irina; Sohrabi, Yahya; Svobodová, M.; Demant, P.; Lipoldová, Marie

    2012-01-01

    Roč. 6, č. 6 (2012), e1667 ISSN 1935-2735 R&D Projects: GA ČR GA310/08/1697; GA ČR GD310/08/H077; GA MŠk(CZ) LC06009 Institutional support: RVO:68378050 Keywords : leishmaniasis * Leishmania tropica * Leishmania major Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.569, year: 2012

  4. Future management of human obesity: understanding the meaning of genetic susceptibility

    Directory of Open Access Journals (Sweden)

    Jenkins AB

    2014-12-01

    Full Text Available Arthur B Jenkins,1,2 Lesley V Campbell2,3 1School of Medicine, University of Wollongong, Wollongong, NSW, Australia; 2Diabetes and Obesity Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia; 3Diabetes Centre and Department of Endocrinology, St Vincent's Hospital, Sydney, NSW, Australia Abstract: Gene–environment interactions are central to the expression of obesity. The condition is strongly heritable (ie, genetic, and most of the variation in obesity levels between countries and between individuals can be explained by the effects of obesogenic environments on individual genetic susceptibilities. The nature of the obesogenic environmental influences is not clear in detail, but they correlate closely with measures of affluence. The causes of variation in genetic susceptibility are also not clearly defined, but their general nature has become clearer. The failure of genome-wide association studies or large linkage studies to identify or replicate causative genetic variants, together with the segregation of obesity-related traits in families, implicates a heterogenetic mechanism in which rare, dominantly or additively expressed genetic variants are responsible for most of common obesity. The search for rare causative variants continues with some successes, but those identified contribute very little to the overall burden and, assuming heterogenetics, there are many more to find. The time when genomic risk factors provide more information than do currently available markers, such as family history, is a long way off. Genomic studies to date have contributed little, if anything, to the prevention and treatment of common obesity and its associated disorders. This contrasts with the obvious and immediate potential implications of the well-established overall genetic basis of obesity, which have not yet been exploited in the clinical or public health arenas. Genomic studies, which have helped to define the genetic basis of

  5. The diagnosis and management of pre-invasive breast disease: Pathology of atypical lobular hyperplasia and lobular carcinoma in situ

    International Nuclear Information System (INIS)

    Simpson, Peter T; Gale, Theodora; Fulford, Laura G; Reis-Filho, Jorge S; Lakhani, Sunil R

    2003-01-01

    The term lobular neoplasia refers to a spectrum of lesions featuring atypical lobular hyperplasia and lobular carcinoma in situ (LCIS). The histopathological characteristics of these lesions are well documented. What is less well understood is the management implications of a patient diagnosed with LCIS; treatment regimes vary and are somewhat controversial. LCIS is now considered a risk factor and a non-obligate precursor for the subsequent development of invasive cancer

  6. How agricultural management shapes soil microbial communities: patterns emerging from genetic and genomic studies

    Science.gov (United States)

    Daly, Amanda; Grandy, A. Stuart

    2016-04-01

    Agriculture is a predominant land use and thus a large influence on global carbon (C) and nitrogen (N) balances, climate, and human health. If we are to produce food, fiber, and fuel sustainably we must maximize agricultural yield while minimizing negative environmental consequences, goals towards which we have made great strides through agronomic advances. However, most agronomic strategies have been designed with a view of soil as a black box, largely ignoring the way management is mediated by soil biota. Because soil microbes play a central role in many of the processes that deliver nutrients to crops and support their health and productivity, agricultural management strategies targeted to exploit or support microbial activity should deliver additional benefits. To do this we must determine how microbial community structure and function are shaped by agricultural practices, but until recently our characterizations of soil microbial communities in agricultural soils have been largely limited to broad taxonomic classes due to methodological constraints. With advances in high-throughput genetic and genomic sequencing techniques, better taxonomic resolution now enables us to determine how agricultural management affects specific microbes and, in turn, nutrient cycling outcomes. Here we unite findings from published research that includes genetic or genomic data about microbial community structure (e.g. 454, Illumina, clone libraries, qPCR) in soils under agricultural management regimes that differ in type and extent of tillage, cropping selections and rotations, inclusion of cover crops, organic amendments, and/or synthetic fertilizer application. We delineate patterns linking agricultural management to microbial diversity, biomass, C- and N-content, and abundance of microbial taxa; furthermore, where available, we compare patterns in microbial communities to patterns in soil extracellular enzyme activities, catabolic profiles, inorganic nitrogen pools, and nitrogen

  7. Energy Management of Dual-Source Propelled Electric Vehicle using Fuzzy Controller Optimized via Genetic Algorithm

    DEFF Research Database (Denmark)

    Khoobi, Saeed; Halvaei, Abolfazl; Hajizadeh, Amin

    2016-01-01

    Energy and power distribution between multiple energy sources of electric vehicles (EVs) is the main challenge to achieve optimum performance from EV. Fuzzy inference systems are powerful tools due to nonlinearity and uncertainties of EV system. Design of fuzzy controllers for energy management...... of EV relies too much on the expert experience and it may lead to sub-optimal performance. This paper develops an optimized fuzzy controller using genetic algorithm (GA) for an electric vehicle equipped with two power bank including battery and super-capacitor. The model of EV and optimized fuzzy...

  8. Genetic progression in microsatellite instability high (MSI-H) colon cancers correlates with clinico-pathological parameters: A study of the TGRbetaRII, BAX, hMSH3, hMSH6, IGFIIR and BLM genes.

    Science.gov (United States)

    Calin, G A; Gafà, R; Tibiletti, M G; Herlea, V; Becheanu, G; Cavazzini, L; Barbanti-Brodano, G; Nenci, I; Negrini, M; Lanza, G

    2000-05-20

    Colon carcinomas with microsatellite mutator phenotype exhibit specific genetic and clinico-pathological features. This report describes the analysis of 63 "microsatellite instability-high" (MSI-H) tumors for the presence of mutations in microsatellites located in the coding regions (CDRs) of 6 genes: TGFbetaRII, BAX, hMSH3, hMSH6, IGFIIR, and BLM. The following frequencies of mutations were detected: TGFbetaRII (70%), BAX (54%), hMSH3 (36.5%), IGFIIR (22%), hMSH6 (17.5%), and BLM (16%). The overall picture revealed combinations of mutations suggestive of a progressive order of accumulation, with mutations of TGFbetaRII and BAX first, followed by frameshifts in hMSH3, hMSH6, IGFIIR, and BLM. Correlations with 12 clinico-pathological parameters revealed that tumors with frameshifts in 1 or 2 CDRs were significantly better differentiated than tumors with frameshifts in more than 2 CDRs. We also found that mutations in the hMSH3 gene were significantly associated with decreased wall invasiveness and aneuploidy, and frameshifts in the BLM gene were significantly associated with the mucinous histotype. A trend toward an association between hMSH3 and IGFIIR with the medullary and conventional adenocarcinoma histotypes, respectively, was seen. Our results strengthen the concept that mutations in target genes have a role in the tumorigenic process of MSI-H tumors, and indicate that frameshifts in microsatellites located in CDRs occur in a limited number of combinations that could determine distinct clinico-pathological traits. Copyright 2000 Wiley-Liss, Inc.

  9. Genetic differentiation and trade among populations of peach palm ( Bactris gasipaes Kunth) in the Peruvian Amazon-implications for genetic resource management.

    Science.gov (United States)

    Adin, A; Weber, J C; Sotelo Montes, C; Vidaurre, H; Vosman, B; Smulders, M J M

    2004-05-01

    Peach palm ( Bactris gasipaes Kunth) is cultivated for fruit and 'heart of palm', and is an important component of agroforestry systems in the Peruvian Amazon. In this study, AFLP was used to compare genetic diversity among domesticated populations along the Paranapura and Cuiparillo rivers, which are managed by indigenous and colonist farming communities, respectively. Gene diversity was 0.2629 for the populations in indigenous communities and 0.2534 in colonist communities. Genetic differentiation among populations ( G(st)) was 0.0377-0.0416 ( Prodents is thought to occur only across relatively short distances (100-200 m), it is likely that exchange of material by farmers and commercial traders is responsible for most of the 'long-distance' (over more than 20 km) gene flow among populations along the two rivers studied. This exchange of material may be important to counteract the effects of selection as well as genetic drift in small groups of trees in farmers' fields, much as in a metapopulation, and may account for the weak genetic differentiation between the two rivers ( G(st)=0.0249, PPeru and Brazil showed the existence of an isolation-by-distance structure up to 3,000 km, consistent with gene flow on a regional scale, likely mediated by trade in the Amazon Basin. Results are discussed with regard to practical implications for the management of genetic resources with farming communities.

  10. [The physical methods for the prevention and management of weather-dependent pathological reactions (a literature review)].

    Science.gov (United States)

    Vasilenko, A M; Agasarov, L G; Sharipova, M M

    The review presents data on the non-pharmacological methods and technologies for the prevention and management of meteopathic reactions (MPR) applied in Russia for the treatment of the patients suffering from obstructive and cardiovascular diseases. It is assumed, based on the concept of heliogeophysical imprinting, that the major factors responsible for the development of MPR are the disturbances of electromagnetic homeostasis. The acupuncture points and channels are regarded as a system designed for the maintenance of electromagnetic balance in the human body. In this context, it is proposed to encourage the application of the methods of electro-diagnostics and reflexology for the prevention and correction of meteopathic reactions.

  11. Insights into the Mechanism of Severe Mitral Regurgitation: RT-3D TEE Guided Management with Pathological Correlation.

    Science.gov (United States)

    Anand, Senthil; Hamoud, Naktal; Thompson, Jess; Janardhanan, Rajesh

    2015-01-01

    Mitral valve perforation is an uncommon but important complication of infective endocarditis. We report a case of a 65-year-old man who was diagnosed to have infective endocarditis of his mitral valve. Through the course of his admission he had a rapid development of hemodynamic instability and pulmonary edema secondary to acutely worsening mitral regurgitation. While the TEE demonstrated an increase in the size of his bacterial vegetation, Real Time 3D TEE was ultimately the imaging modality through which the valve perforation was identified. Through this case report we discuss the advantages that RT-3D TEE has over traditional 2D TEE in the management of valve perforation.

  12. DOG-SPOT database for comprehensive management of dog genetic research data

    Directory of Open Access Journals (Sweden)

    Sutter Nathan B

    2010-12-01

    Full Text Available Abstract Research laboratories studying the genetics of companion animals have no database tools specifically designed to aid in the management of the many kinds of data that are generated, stored and analyzed. We have developed a relational database, "DOG-SPOT," to provide such a tool. Implemented in MS-Access, the database is easy to extend or customize to suit a lab's particular needs. With DOG-SPOT a lab can manage data relating to dogs, breeds, samples, biomaterials, phenotypes, owners, communications, amplicons, sequences, markers, genotypes and personnel. Such an integrated data structure helps ensure high quality data entry and makes it easy to track physical stocks of biomaterials and oligonucleotides.

  13. Morphological and genetic evidence for early Holocene cattle management in northeastern China

    DEFF Research Database (Denmark)

    Zhang, Hucai; Paijmans, Johanna L. A.; Chang, Fengqin

    2013-01-01

    The domestication of cattle is generally accepted to have taken place in two independent centres: around 10,500 years ago in the Near East, giving rise to modern taurine cattle, and two millennia later in southern Asia, giving rise to zebu cattle. Here we provide firmly dated morphological...... and genetic evidence for early Holocene management of taurine cattle in northeastern China. We describe conjoining mandibles from this region that show evidence of oral stereotypy, dated to the early Holocene by two independent (14)C dates. Using Illumina high-throughput sequencing coupled with DNA...... hybridization capture, we characterize 15,406 bp of the mitogenome with on average 16.7-fold coverage. Phylogenetic analyses reveal a hitherto unknown mitochondrial haplogroup that falls outside the known taurine diversity. Our data suggest that the first attempts to manage cattle in northern China predate...

  14. The diagnosis and management of pre-invasive breast disease: Flat epithelial atypia – classification, pathologic features and clinical significance

    International Nuclear Information System (INIS)

    Schnitt, Stuart J

    2003-01-01

    Flat epithelial atypia is a descriptive term that encompasses lesions of the breast terminal duct lobular units in which variably dilated acini are lined by one to several layers of epithelial cells, which are usually columnar in shape and which display low-grade cytologic atypia. Observational studies have suggested that at least some of these lesions may represent either a precursor of ductal carcinoma in situ (DCIS) or the earliest morphological manifestation of DCIS. In contrast, the limited available clinical follow-up data suggest that the risk of both local recurrence and progression of these lesions to invasive cancer is extremely low, supporting the notion that categorizing such lesions as 'clinging carcinoma' and managing them as if they were fully developed DCIS will result in overtreatment of many patients. Additional studies are needed to better understand the biological nature and clinical significance of these lesions

  15. Insights into the Mechanism of Severe Mitral Regurgitation: RT-3D TEE Guided Management with Pathological Correlation

    Directory of Open Access Journals (Sweden)

    Senthil Anand

    2015-01-01

    Full Text Available Mitral valve perforation is an uncommon but important complication of infective endocarditis. We report a case of a 65-year-old man who was diagnosed to have infective endocarditis of his mitral valve. Through the course of his admission he had a rapid development of hemodynamic instability and pulmonary edema secondary to acutely worsening mitral regurgitation. While the TEE demonstrated an increase in the size of his bacterial vegetation, Real Time 3D TEE was ultimately the imaging modality through which the valve perforation was identified. Through this case report we discuss the advantages that RT-3D TEE has over traditional 2D TEE in the management of valve perforation.

  16. A Hybrid Genetic Wind Driven Heuristic Optimization Algorithm for Demand Side Management in Smart Grid

    Directory of Open Access Journals (Sweden)

    Nadeem Javaid

    2017-03-01

    Full Text Available In recent years, demand side management (DSM techniques have been designed for residential, industrial and commercial sectors. These techniques are very effective in flattening the load profile of customers in grid area networks. In this paper, a heuristic algorithms-based energy management controller is designed for a residential area in a smart grid. In essence, five heuristic algorithms (the genetic algorithm (GA, the binary particle swarm optimization (BPSO algorithm, the bacterial foraging optimization algorithm (BFOA, the wind-driven optimization (WDO algorithm and our proposed hybrid genetic wind-driven (GWD algorithm are evaluated. These algorithms are used for scheduling residential loads between peak hours (PHs and off-peak hours (OPHs in a real-time pricing (RTP environment while maximizing user comfort (UC and minimizing both electricity cost and the peak to average ratio (PAR. Moreover, these algorithms are tested in two scenarios: (i scheduling the load of a single home and (ii scheduling the load of multiple homes. Simulation results show that our proposed hybrid GWD algorithm performs better than the other heuristic algorithms in terms of the selected performance metrics.

  17. Open source tools for management and archiving of digital microscopy data to allow integration with patient pathology and treatment information.

    Science.gov (United States)

    Khushi, Matloob; Edwards, Georgina; de Marcos, Diego Alonso; Carpenter, Jane E; Graham, J Dinny; Clarke, Christine L

    2013-02-12

    Virtual microscopy includes digitisation of histology slides and the use of computer technologies for complex investigation of diseases such as cancer. However, automated image analysis, or website publishing of such digital images, is hampered by their large file sizes. We have developed two Java based open source tools: Snapshot Creator and NDPI-Splitter. Snapshot Creator converts a portion of a large digital slide into a desired quality JPEG image. The image is linked to the patient's clinical and treatment information in a customised open source cancer data management software (Caisis) in use at the Australian Breast Cancer Tissue Bank (ABCTB) and then published on the ABCTB website (http://www.abctb.org.au) using Deep Zoom open source technology. Using the ABCTB online search engine, digital images can be searched by defining various criteria such as cancer type, or biomarkers expressed. NDPI-Splitter splits a large image file into smaller sections of TIFF images so that they can be easily analysed by image analysis software such as Metamorph or Matlab. NDPI-Splitter also has the capacity to filter out empty images. Snapshot Creator and NDPI-Splitter are novel open source Java tools. They convert digital slides into files of smaller size for further processing. In conjunction with other open source tools such as Deep Zoom and Caisis, this suite of tools is used for the management and archiving of digital microscopy images, enabling digitised images to be explored and zoomed online. Our online image repository also has the capacity to be used as a teaching resource. These tools also enable large files to be sectioned for image analysis. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5330903258483934.

  18. Open source tools for management and archiving of digital microscopy data to allow integration with patient pathology and treatment information

    Directory of Open Access Journals (Sweden)

    Khushi Matloob

    2013-02-01

    Full Text Available Abstract Background Virtual microscopy includes digitisation of histology slides and the use of computer technologies for complex investigation of diseases such as cancer. However, automated image analysis, or website publishing of such digital images, is hampered by their large file sizes. Results We have developed two Java based open source tools: Snapshot Creator and NDPI-Splitter. Snapshot Creator converts a portion of a large digital slide into a desired quality JPEG image. The image is linked to the patient’s clinical and treatment information in a customised open source cancer data management software (Caisis in use at the Australian Breast Cancer Tissue Bank (ABCTB and then published on the ABCTB website (http://www.abctb.org.au using Deep Zoom open source technology. Using the ABCTB online search engine, digital images can be searched by defining various criteria such as cancer type, or biomarkers expressed. NDPI-Splitter splits a large image file into smaller sections of TIFF images so that they can be easily analysed by image analysis software such as Metamorph or Matlab. NDPI-Splitter also has the capacity to filter out empty images. Conclusions Snapshot Creator and NDPI-Splitter are novel open source Java tools. They convert digital slides into files of smaller size for further processing. In conjunction with other open source tools such as Deep Zoom and Caisis, this suite of tools is used for the management and archiving of digital microscopy images, enabling digitised images to be explored and zoomed online. Our online image repository also has the capacity to be used as a teaching resource. These tools also enable large files to be sectioned for image analysis. Virtual Slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5330903258483934

  19. Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling.

    Science.gov (United States)

    López-Hernández, L B; Gómez-Díaz, B; Escobar-Cedillo, R E; Gama-Moreno, O; Camacho-Molina, A; Soto-Valdés, D M; Anaya-Segura, M A; Luna-Padrón, E; Zúñiga-Guzmán, C; Lopez-Hernández, J A; Vázquez-Cárdenas, N A; Sánchez-Chapul, L; Rangel-Villalobos, H; Canto, P; López-Cardona, M G; García, S; Méndez-Covarrubias, G; Coral-Vázquez, R M

    2014-01-01

    Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. A Multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed and curated by health specialists; including clinical features, age at first symptoms, age at diagnosis, disease progression and management, family history, education, age and cause of death. There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of patients obtained definite diagnosis and most of them are in physiotherapy programs but not under steroid treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p = 0.05). Approximately 93.33% of our patients attended to education programs. Mean age at death was 18.94 +/- 6.73 years and the most frequent cause was pneumonia. Delayed diagnosis of DMD in Mexico is mainly caused by the late detection of first symptoms. There is no difference in early detection of symptoms between familiar and sporadic cases. Lifespan of patients in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect patient management and genetic counseling and could also preclude participation of patients into novel clinical trials.

  20. Incorporating genetic sampling in long-term monitoring and adaptive management in the San Diego County Management Strategic Plan Area, Southern California

    Science.gov (United States)

    Vandergast, Amy G.

    2017-06-02

    Habitat and species conservation plans usually rely on monitoring to assess progress towards conservation goals. Southern California, USA, is a hotspot of biodiversity and home to many federally endangered and threatened species. Here, several regional multi-species conservation plans have been implemented to balance development and conservation goals, including in San Diego County. In the San Diego County Management Strategic Plan Area (MSPA), a monitoring framework for the preserve system has been developed with a focus on species monitoring, vegetation monitoring, threats monitoring and abiotic monitoring. Genetic sampling over time (genetic monitoring) has proven useful in gathering species presence and abundance data and detecting population trends, particularly related to species and threats monitoring objectives. This report reviews genetic concepts and techniques of genetics that relate to monitoring goals and outlines components of a genetic monitoring scheme that could be applied in San Diego or in other monitoring frameworks throughout the Nation.

  1. Curriculum Guidelines for Pathology and Oral Pathology.

    Science.gov (United States)

    Journal of Dental Education, 1985

    1985-01-01

    Guidelines for dental school pathology courses describe the interrelationships of general, systemic, and oral pathology; primary educational goals; prerequisites; a core curriculum outline and behavioral objectives for each type of pathology. Notes on sequencing, faculty, facilities, and occupational hazards are included. (MSE)

  2. Japanese encephalitis in a 114-month-old cow: pathological investigation of the affected cow and genetic characterization of Japanese encephalitis virus isolate.

    Science.gov (United States)

    Kako, Naomi; Suzuki, Seiji; Sugie, Norie; Kato, Tomoko; Yanase, Tohru; Yamakawa, Makoto; Shirafuji, Hiroaki

    2014-03-11

    Japanese encephalitis virus (JEV) is classified into the genus Flavivirus in the family Flaviviridae. JEV can cause febrile illness and encephalitis mainly in humans and horses, and occasionally in cattle. In late September 2010, a 114-month-old cow showed neurological symptoms similar to the symptoms observed in previous bovine cases of Japanese encephalitis (JE); therefore, we conducted virological and pathological tests on the cow. As a result, JEV was isolated from the cerebrum of the affected cow. We determined the complete genome sequence of the JEV isolate, which we named JEV/Bo/Aichi/1/2010, including the envelope (E) gene region and 3' untranslated region (3'UTR). Our phylogenetic analyses of the E region and complete genome showed that the isolate belongs to JEV genotype 1 (G1). The isolate, JEV/Bo/Aichi/1/2010, was most closely related to several JEV G1 isolates in Toyama Prefecture, Japan in 2007-2009 by the phylogenetic analysis of the E region. In addition, the nucleotide alignment revealed that the deletion in the 3'UTR was the same between JEV/Bo/Aichi/1/2010 and several other JEV G1 isolates identified in Toyama Prefecture in 2008-2009. A hemagglutination inhibition (HI) test was conducted for the detection of anti-JEV antibodies in the affected cow, and the test detected 2-mercaptoethanol (2-ME)-sensitive HI antibodies against JEV in the serum of the affected cow. The histopathological investigation revealed nonsuppurative encephalomyelitis in the affected cow, and the immunohistochemical assay detected JEV antigen in the cerebrum. We diagnosed the case as JE of a cow based on the findings of nonsuppurative encephalomyelitis observed in the central nervous system, JEV antigen detected in the cerebrum, JEV isolated from the cerebrum, and 2-ME-sensitive HI antibodies against JEV detected in the serum. This is the first reported case of JE in a cow over 24 months old.

  3. Pathological gambling: An overview

    Directory of Open Access Journals (Sweden)

    Shalini Singh

    2017-01-01

    Full Text Available Gambling activities are popular as a form of recreation and have been a source of income for many people worldwide. Although gambling has been common across continents and time, and a subset of individuals experience problems with gambling. This review attempts to provide an overview of problem gambling for clinicians who are likely to encounter such patients in their practice. The review discusses the relevance, nosology, and epidemiology of gambling. We also discuss the associated comorbidities and principles of management of pathological gambling.

  4. Podocyte Pathology and Nephropathy

    Directory of Open Access Journals (Sweden)

    Sandra eMerscher

    2014-07-01

    Full Text Available Sphingolipids are components of the lipid rafts in plasma membranes, which are important for proper function of podocytes, a key element of the glomerular filtration barrier. Research revealed an essential role of sphingolipids and sphingolipid metabolites in glomerular disorders of genetic and non-genetic origin. The discovery that glucocerebrosides accumulate in Gaucher disease in glomerular cells and are associated with clinical proteinuria initiated intensive research into the function of other sphingolipids in glomerular disorders. The accumulation of sphingolipids in other genetic diseases including Tay-Sachs, Sandhoff, Fabry, hereditary inclusion body myopathy 2, Niemann-Pick and nephrotic syndrome of the Finnish type and its implications with respect to glomerular pathology will be discussed. Similarily, sphingolipid accumulation occurs in glomerular diseases of non-genetic origin including diabetic kidney disease (DKD, HIV-associated nephropathy, focal segmental glomerulosclerosis (FSGS and lupus nephritis. Sphingomyelin metabolites, such as ceramide, sphingosine and sphingosine-1-phosphate have also gained tremendous interest. We recently described that sphingomyelin phosphodiesterase acid-like 3b (SMPDL3b is expressed in podocytes where it modulates acid sphingomyelinase (ASMase activity and acts as a master modulator of danger signaling. Decreased SMPDL3b expression in post-reperfusion kidney biopsies from transplant recipients with idiopathic FSGS correlates with the recurrence of proteinuria in patients and in experimental models of xenotransplantation. Increased SMPDL3b expression is associated with DKD. The consequences of differential SMPDL3b expression in podocytes in these diseases with respect to their pathogenesis will be discussed. Finally, the role of sphingolipids in the formation of lipid rafts in podocytes and their contribution to the maintenance of a functional slit diaphragm in the glomerulus will be discussed.

  5. Incongruent genetic connectivity patterns for VME indicator taxa: implications for the management of New Zealand's vulnerable marine ecosystems

    Science.gov (United States)

    Clark, M. R.; Gardner, J.; Holland, L.; Zeng, C.; Hamilton, J. S.; Rowden, A. A.

    2016-02-01

    In the New Zealand region vulnerable marine ecosystems (VMEs) are at risk from commercial fishing activity and future seabed mining. Understanding connectivity among VMEs is important for the design of effective spatial management strategies, i.e. a network of protected areas. To date however, genetic connectivity in the New Zealand region has rarely been documented. As part of a project developing habitat suitability models and spatial management options for VMEs we used DNA sequence data and microsatellite genotyping to assess genetic connectivity for a range of VME indicator taxa, including the coral Desmophyllum dianthus, and the sponges Poecilastra laminaris and Penares palmatoclada. Overall, patterns of connectivity were inconsistent amonst taxa. Nonetheless, genetic data from each taxon were relevant to inform management at a variety of spatial scales. D. dianthus populations in the Kermadec volcanic arc and the Louisville Seamount Chain were indistinguishable, highlighting the importance of considering source-sink dynamics between populations beyond the EEZ in conservation planning. Poecilastra laminaris populations showed significant divergence across the Chatham Rise, in contrast to P. palmatoclada, which had a uniform haplotypic distribution. However, both sponge species exhibited the highest genetic diversity on the Chatham Rise, suggesting that this area is a genetic hotspot. The spatial heterogeneity of genetic patterns of structure suggest that inclusion of several taxa is necessary to facilitate understanding of regional connectivity patterns, variation in which may be attributed to alternate life history strategies, local hydrodynamic regimes, or in some cases, suboptimal sample sizes. Our findings provide important information for use by environmental managers, including summary maps of genetic diversity and barriers to gene flow, which will be used in spatial management decision-support tools.

  6. Anesthesia and Tau Pathology

    Science.gov (United States)

    Whittington, Robert A.; Bretteville, Alexis; Dickler, Maya F.; Planel, Emmanuel

    2013-01-01

    Alzheimer’s disease (AD) is the most common form of dementia and remains a growing worldwide health problem. As life expectancy continues to increase, the number of AD patients presenting for surgery and anesthesia will steadily rise. The etiology of sporadic AD is thought to be multifactorial, with environmental, biological and genetic factors interacting together to influence AD pathogenesis. Recent reports suggest that general anesthetics may be such a factor and may contribute to the development and exacerbation of this neurodegenerative disorder. Intra-neuronal neurofibrillary tangles (NFT), composed of hyperphosphorylated and aggregated tau protein are one of the main neuropathological hallmarks of AD. Tau pathology is important in AD as it correlates very well with cognitive dysfunction. Lately, several studies have begun to elucidate the mechanisms by which anesthetic exposure might affect the phosphorylation, aggregation and function of this microtubule-associated protein. Here, we specifically review the literature detailing the impact of anesthetic administration on aberrant tau hyperphosphorylation as well as the subsequent development of neurofibrillary pathology and degeneration. PMID:23535147

  7. Genetic Diversity Approach to Fishery Management Spiny Lobster Southern Waters of Java Based on SWOT Analysis and AHP

    Directory of Open Access Journals (Sweden)

    Florensius Eko Haryono

    2017-05-01

    Full Text Available Indonesia as an archipelagic and tropical country, and known as the centre of megabiodiversity. Tropical spiny lobster consists of several species and able to survive without water for a certain period and this excess used to be distributed life conditions.  Spiny lobster fisheries is become an important issue in Indonesia now, due to the catch condition decrease for some decade, and need a policy to manage. Spiny lobster management strategy based on biodiversity genetic of lobster in Southern of Central Java (SCJ and Special  Region of Jogjakarta (SRJ waters done by collecting the lobster randomly, and collecting the questioner to fisherman, lobster collector, government and NGO from February-August 2015.  Data analyzed by SWOT and AHP methods.   The management priorities based on highest score. The first priority management based on genetic of lobster is not carried out on an isolated by each districts. Second priority management based on genetic lobster was avoid of each district management. Third priority was  optimizing new fishingground.  Fourth priority optimized of habitat utilization, optimized  fishing time, and increased number of fishing trips . Key word : Spiny lobster, diversity genetic, SWOT, AHP.

  8. Biotechnologies for the management of genetic resources for food and agriculture.

    Science.gov (United States)

    Lidder, Preetmoninder; Sonnino, Andrea

    2012-01-01

    In recent years, the land area under agriculture has declined as also has the rate of growth in agricultural productivity while the demand for food continues to escalate. The world population now stands at 7 billion and is expected to reach 9 billion in 2045. A broad range of agricultural genetic diversity needs to be available and utilized in order to feed this growing population. Climate change is an added threat to biodiversity that will significantly impact genetic resources for food and agriculture (GRFA) and food production. There is no simple, all-encompassing solution to the challenges of increasing productivity while conserving genetic diversity. Sustainable management of GRFA requires a multipronged approach, and as outlined in the paper, biotechnologies can provide powerful tools for the management of GRFA. These tools vary in complexity from those that are relatively simple to those that are more sophisticated. Further, advances in biotechnologies are occurring at a rapid pace and provide novel opportunities for more effective and efficient management of GRFA. Biotechnology applications must be integrated with ongoing conventional breeding and development programs in order to succeed. Additionally, the generation, adaptation, and adoption of biotechnologies require a consistent level of financial and human resources and appropriate policies need to be in place. These issues were also recognized by Member States at the FAO international technical conference on Agricultural Biotechnologies for Developing Countries (ABDC-10), which took place in March 2010 in Mexico. At the end of the conference, the Member States reached a number of key conclusions, agreeing, inter alia, that developing countries should significantly increase sustained investments in capacity building and the development and use of biotechnologies to maintain the natural resource base; that effective and enabling national biotechnology policies and science-based regulatory frameworks can

  9. Considerations and Changes in the Evaluation, Management, and Outcomes in the Management of Diverticular Disease: The Diagnosis, Pathology, and Treatment of Diverticular Colitis.

    Science.gov (United States)

    Kucejko, Robert J; Poggio, Juan L

    2018-07-01

    Diverticular colitis, also known as segmental colitis associated with diverticulosis, is a colonic inflammatory disorder on the spectrum of inflammatory bowel disease (IBD). The disease consists of macroscopic and microscopic inflammation affecting inter-diverticular mucosa, sparing peri-diverticular mucosa, with inflammation confined to the descending and sigmoid colon. The disease likely arises from the altered immune response of an individual, genetically susceptible to the IBD spectrum of diseases. Patients with segmental colitis associated with diverticulosis (SCAD) are typically older, and likely represent a subgroup of IBD-susceptible patients who lacked an environmental trigger until that point in their life. Most patients remain in remission with initial treatments of mesalamine or topical steroids, and maintenance mesalamine afterwards. Only the most severe form of the disease necessitates immunomodulatory therapy and the consideration of surgery.

  10. Genetic Counseling: MedlinePlus Health Topic

    Science.gov (United States)

    ... Craniosynostosis as a clinical and diagnostic problem: molecular pathology and... Article: GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital ... March of Dimes Birth Defects Foundation Also in Spanish ...

  11. eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology

    Directory of Open Access Journals (Sweden)

    Specht Günther

    2009-05-01

    Full Text Available Abstract Background High-throughput genotyping and phenotyping projects of large epidemiological study populations require sophisticated laboratory information management systems. Most epidemiological studies include subject-related personal information, which needs to be handled with care by following data privacy protection guidelines. In addition, genotyping core facilities handling cooperative projects require a straightforward solution to monitor the status and financial resources of the different projects. Description We developed a database system for an efficient combination and management of phenotypes and genotypes (eCOMPAGT deriving from genetic epidemiological studies. eCOMPAGT securely stores and manages genotype and phenotype data and enables different user modes with different rights. Special attention was drawn on the import of data deriving from TaqMan and SNPlex genotyping assays. However, the database solution is adjustable to other genotyping systems by programming additional interfaces. Further important features are the scalability of the database and an export interface to statistical software. Conclusion eCOMPAGT can store, administer and connect phenotype data with all kinds of genotype data and is available as a downloadable version at http://dbis-informatik.uibk.ac.at/ecompagt.

  12. Magnetic resonance imaging of popliteal artery pathologies

    International Nuclear Information System (INIS)

    Holden, Andrew; Merrilees, Stephen; Mitchell, Nicola; Hill, Andrew

    2008-01-01

    This paper illustrates examples of popliteal artery pathologies imaged with contrast enhanced magnetic resonance angiography (CE-MRA) and magnetic resonance imaging (MRI) at a single tertiary referral centre. Popliteal artery pathologies were identified in 1710 patients referred over a 6-year period with symptoms suggesting lower limb arterial occlusive disease. Common pathologies such as atherosclerotic occlusive disease, thromboemboli and aneurysm disease are discussed as well as unusual pathologies such as cystic adventitial disease, mycotic aneurysm and arterial entrapment. The combination of CE-MRA and the excellent soft tissue resolution of MRI allow detailed evaluation of arterial and peri-arterial pathologies, and facilitate appropriate management decisions

  13. Magnetic resonance imaging of popliteal artery pathologies

    Energy Technology Data Exchange (ETDEWEB)

    Holden, Andrew [Department of Radiology, Auckland City Hospital, Park Road, Grafton, Auckland 9 (New Zealand)], E-mail: andrewh@adhb.govt.nz; Merrilees, Stephen [Department of Radiology, Auckland City Hospital, Park Road, Grafton, Auckland 9 (New Zealand)], E-mail: smerrilees@adhb.govt.nz; Mitchell, Nicola [Department of Radiology, Auckland City Hospital, Park Road, Grafton, Auckland 9 (New Zealand)], E-mail: nmit010@ec.auckland.ac.nz; Hill, Andrew [Department of Vascular Surgery, Auckland City Hospital, Park Road, Grafton, Auckland 9 (New Zealand)], E-mail: ahill@adhb.govt.nz

    2008-07-15

    This paper illustrates examples of popliteal artery pathologies imaged with contrast enhanced magnetic resonance angiography (CE-MRA) and magnetic resonance imaging (MRI) at a single tertiary referral centre. Popliteal artery pathologies were identified in 1710 patients referred over a 6-year period with symptoms suggesting lower limb arterial occlusive disease. Common pathologies such as atherosclerotic occlusive disease, thromboemboli and aneurysm disease are discussed as well as unusual pathologies such as cystic adventitial disease, mycotic aneurysm and arterial entrapment. The combination of CE-MRA and the excellent soft tissue resolution of MRI allow detailed evaluation of arterial and peri-arterial pathologies, and facilitate appropriate management decisions.

  14. Distribution of genetic diversity in wild European populations of prickly lettuce (Lactuca serriola): implications for plant genetic resources management

    NARCIS (Netherlands)

    Wiel, van de C.C.M.; Sretenovic Rajicic, T.; Treuren, van R.; Dehmer, K.J.; Linden, van der C.G.; Hintum, van T.J.L.

    2010-01-01

    Genetic variation in Lactuca serriola, the closest wild relative of cultivated lettuce, was studied across Europe from the Czech Republic to the United Kingdom, using three molecular marker systems, simple sequence repeat (SSR, microsatellites), AFLP and nucleotide-binding site (NBS) profiling. The

  15. Influence of genetic polymorphisms and mutations in the cardiac pathology of iron overload in thalassemia and sickle cell anemia patients: a retrospective study

    Directory of Open Access Journals (Sweden)

    Veronica Agrigento

    2012-11-01

    Full Text Available Cardiac disease in thalassemia is determined by the accumulation of iron in the tissue. Genetic factors could influence the severity and the rapidity of the modifications of the cardiac tissue. Mutations or polymorphisms of genes have already been described as being implicated in cardiac disease. In particular, we studied the polymorphisms C1091T in the Connexin 37 gene (CX 37, 4G -668 5G in the Plasminogen Activator Inhibitor-1 gene (PAI 1 and 5A-1171 6A in the Stromelysin-1 gene (SL in 193 randomly selected patients affected by hemoglobinopathies and 100 normal subjects randomly selected from the general population. A retrospective analysis based on history, clinical data and imaging studies was carried out to assess the presence and type of heart disease. The results of our study do not demonstrate a close association between polymorphism in these candidate genes and cardiac disease, and in particular with myocardial infarction in a cohort of Sicilian patients affected by hemoglobinopathies. 地中海贫血心脏病的关键诱因是组织中的铁沉积。遗传因子可能影响心脏组织修复的严重程度和速度。基因突变或基因多态性与心脏病有关。尤其是,我们研究了193名随机选择的血红蛋白病患者以及从普通人群中随机选择的100名正常受试者的连接蛋白37基因(CX37)的C1091T、纤溶酶原激活物抑制剂-1基因(PAI1)的4G -668 5G 和基质分解素-1基因(SL)的5A-1171 6A等多态性。根据病史、临床资料和影像研究进行回顾性分析,以评估心脏病的存在情况和类型。我们的研究结果并没有表明这些候选基因的多态性和心脏疾病之间存在密切联系,尤其是与一组西西里岛血红蛋白病患者的心肌梗塞存在密切联系。

  16. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

    Directory of Open Access Journals (Sweden)

    John F Staropoli

    Full Text Available Cln3(Δex7/8 mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL, an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL mutation, we performed a broad phenotyping study of Cln3(Δex7/8 mice. Homozygous Cln3(Δex7/8 mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10-14 weeks of age. Homozygous Cln3(Δex7/8 mice also displayed electroretinographic changes reflecting cone function deficits past 5 months of age and a progressive decline of retinal post-receptoral function. Metabolic analysis revealed increases in rectal body temperature and minimum oxygen consumption in 12-13 week old homozygous Cln3(Δex7/8 mice, which were also seen to a lesser extent in heterozygous Cln3(Δex7/8 mice. Heart weight was slightly increased at 20 weeks of age, but no significant differences were observed in cardiac function in young adults. In a comprehensive blood analysis at 15-16 weeks of age, serum ferritin concentrations, mean corpuscular volume of red blood cells (MCV, and reticulocyte counts were reproducibly increased in homozygous Cln3(Δ (ex7/8 mice, and male homozygotes had a relative T-cell deficiency, suggesting alterations in hematopoiesis. Finally, consistent with findings in JNCL patients, vacuolated peripheral blood lymphocytes were observed in homozygous Cln3(Δ (ex7/8 neonates, and to a greater extent in older animals. Early onset, severe vacuolation in clear cells of the epididymis of male homozygous Cln3(Δ (ex7/8 mice was also observed. These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3(Δ (ex7/8 mice that merit further study for JNCL biomarker development.

  17. Genetic relations among procrastination, impulsivity, and goal-management ability: implications for the evolutionary origin of procrastination.

    Science.gov (United States)

    Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

    2014-06-01

    Previous research has revealed a moderate and positive correlation between procrastination and impulsivity. However, little is known about why these two constructs are related. In the present study, we used behavior-genetics methodology to test three predictions derived from an evolutionary account that postulates that procrastination arose as a by-product of impulsivity: (a) Procrastination is heritable, (b) the two traits share considerable genetic variation, and (c) goal-management ability is an important component of this shared variation. These predictions were confirmed. First, both procrastination and impulsivity were moderately heritable (46% and 49%, respectively). Second, although the two traits were separable at the phenotypic level (r = .65), they were not separable at the genetic level (r genetic = 1.0). Finally, variation in goal-management ability accounted for much of this shared genetic variation. These results suggest that procrastination and impulsivity are linked primarily through genetic influences on the ability to use high-priority goals to effectively regulate actions. © The Author(s) 2014.

  18. The Danish Pathology Register

    DEFF Research Database (Denmark)

    Bjerregaard, Beth; Larsen, Ole B

    2011-01-01

    The National Board of Health, Denmark in 1997 published guidelines for reporting of pathology data and the Danish Pathology Register (DPR) was established.......The National Board of Health, Denmark in 1997 published guidelines for reporting of pathology data and the Danish Pathology Register (DPR) was established....

  19. [Role of contemporary pathological diagnostics in the personalized treatment of cancer].

    Science.gov (United States)

    Tímár, József

    2013-03-01

    Due to the developments of pathology in the past decades (immunohistochemistry and molecular pathology) classification of cancers changed fundamentally, laying a ground for personalized management of cancer patients. Our picture of cancer is more complex today, identifying the genetic basis of the morphological variants. On the other hand, this picture has a much higher resolution enabling us to subclassify similar histological cancer types based on molecular markers. This redefined classification of cancers helps us to better predict the possible biological behavior of the disease and/or the therapeutic sensitivity, opening the way toward a more personalized treatment of this disease. The redefined molecular classification of cancer may affect the universal application of treatment protocols. To achieve this goal molecular diagnostics must be an integral and reimbursed part of the routine pathological diagnostics. On the other hand, it is time to extend the multidisciplinary team with molecular pathologist to improve the decision making process of the management of cancer patients.

  20. Multilevel Association Rule Mining for Bridge Resource Management Based on Immune Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Yang Ou

    2014-01-01

    Full Text Available This paper is concerned with the problem of multilevel association rule mining for bridge resource management (BRM which is announced by IMO in 2010. The goal of this paper is to mine the association rules among the items of BRM and the vessel accidents. However, due to the indirect data that can be collected, which seems useless for the analysis of the relationship between items of BIM and the accidents, the cross level association rules need to be studied, which builds the relation between the indirect data and items of BRM. In this paper, firstly, a cross level coding scheme for mining the multilevel association rules is proposed. Secondly, we execute the immune genetic algorithm with the coding scheme for analyzing BRM. Thirdly, based on the basic maritime investigation reports, some important association rules of the items of BRM are mined and studied. Finally, according to the results of the analysis, we provide the suggestions for the work of seafarer training, assessment, and management.

  1. Hybrid Genetic Algorithm - Local Search Method for Ground-Water Management

    Science.gov (United States)

    Chiu, Y.; Nishikawa, T.; Martin, P.

    2008-12-01

    Ground-water management problems commonly are formulated as a mixed-integer, non-linear programming problem (MINLP). Relying only on conventional gradient-search methods to solve the management problem is computationally fast; however, the methods may become trapped in a local optimum. Global-optimization schemes can identify the global optimum, but the convergence is very slow when the optimal solution approaches the global optimum. In this study, we developed a hybrid optimization scheme, which includes a genetic algorithm and a gradient-search method, to solve the MINLP. The genetic algorithm identifies a near- optimal solution, and the gradient search uses the near optimum to identify the global optimum. Our methodology is applied to a conjunctive-use project in the Warren ground-water basin, California. Hi- Desert Water District (HDWD), the primary water-manager in the basin, plans to construct a wastewater treatment plant to reduce future septic-tank effluent from reaching the ground-water system. The treated wastewater instead will recharge the ground-water basin via percolation ponds as part of a larger conjunctive-use strategy, subject to State regulations (e.g. minimum distances and travel times). HDWD wishes to identify the least-cost conjunctive-use strategies that control ground-water levels, meet regulations, and identify new production-well locations. As formulated, the MINLP objective is to minimize water-delivery costs subject to constraints including pump capacities, available recharge water, water-supply demand, water-level constraints, and potential new-well locations. The methodology was demonstrated by an enumerative search of the entire feasible solution and comparing the optimum solution with results from the branch-and-bound algorithm. The results also indicate that the hybrid method identifies the global optimum within an affordable computation time. Sensitivity analyses, which include testing different recharge-rate scenarios, pond

  2. Surgical pathology of urologic diseases

    International Nuclear Information System (INIS)

    Javadpour, N.; Barsky, S.H.

    1987-01-01

    This text details recent advances in methods for detecting, diagnosing, and managing genitourinary diseases. Included are chapters on imaging techniques (including magnetic resonance imaging, computed tomography, and ultrasound; tumor markers (such as alphafetoprotein, human chorionic gonadotropin, prostatic specific antigen, and T-antigens); immunocytochemistry; pediatric urologic pathology; and other key topics

  3. Genetic diversity of wild and hatchery lake trout populations: Relevance for management and restoration in the Great Lakes

    Science.gov (United States)

    Page, K.S.; Scribner, K.T.; Burnham-Curtis, M.

    2004-01-01

    The biological diversity of lake trout Salvelinus namaycush in the upper Great Lakes was historically high, consisting of many recognizable morphological types and discrete spawning populations. During the 1950s and 1960s, lake trout populations were extirpated from much of the Great Lakes primarily as a result of overfishing and predation by the parasitic sea lamprey Petromyzon marinus. Investigations of how genetic diversity is partitioned among remnant wild lake trout populations and hatchery broodstocks have been advocated to guide lake trout management and conservation planning. Using microsatellite genetic markers, we estimated measures of genetic diversity and the apportionment of genetic variance among 6 hatchery broodstocks and 10 wild populations representing three morphotypes (lean, humper, and siscowet). Analyses revealed that different hatchery broodstocks and wild populations contributed disproportionally to the total levels of genetic diversity. The genetic affinities of hatchery lake trout reflected the lake basins of origin of the wild source populations. The variance in allele frequency over all sampled extant wild populations was apportioned primarily on the basis of morphotype (??MT = 0.029) and secondarily among geographically dispersed populations within each morphotype (??ST = 0.024). The findings suggest that the genetic divergence reflected in recognized morphotypes and the associated ecological and physiological specialization occurred prior to the partitioning of large proglacial lakes into the Great Lakes or as a consequence of higher contemporary levels of gene flow within than among morphotypes. Information on the relative contributions of different broodstocks to total gene diversity within the regional hatchery program can be used to prioritize the broodstocks to be retained and to guide future stocking strategies. The findings highlight the importance of ecological and phenotypic diversity in Great Lakes fish communities and

  4. A Theory of Information Genetics: How Four Subforces Generate Information and the Implications for Total Quality Knowledge Management.

    Science.gov (United States)

    Tsai, Bor-sheng

    2002-01-01

    Proposes a model called information genetics to elaborate on the origin of information generating. Explains conceptual and data models; and describes a software program that was developed for citation data mining, infomapping, and information repackaging for total quality knowledge management in Web representation. (Contains 112 references.)…

  5. Hitchhiker's guide to multi-dimensional plant pathology.

    Science.gov (United States)

    Saunders, Diane G O

    2015-02-01

    Filamentous pathogens pose a substantial threat to global food security. One central question in plant pathology is how pathogens cause infection and manage to evade or suppress plant immunity to promote disease. With many technological advances over the past decade, including DNA sequencing technology, an array of new tools has become embedded within the toolbox of next-generation plant pathologists. By employing a multidisciplinary approach plant pathologists can fully leverage these technical advances to answer key questions in plant pathology, aimed at achieving global food security. This review discusses the impact of: cell biology and genetics on progressing our understanding of infection structure formation on the leaf surface; biochemical and molecular analysis to study how pathogens subdue plant immunity and manipulate plant processes through effectors; genomics and DNA sequencing technologies on all areas of plant pathology; and new forms of collaboration on accelerating exploitation of big data. As we embark on the next phase in plant pathology, the integration of systems biology promises to provide a holistic perspective of plant–pathogen interactions from big data and only once we fully appreciate these complexities can we design truly sustainable solutions to preserve our resources.

  6. Biosafety management and commercial use of genetically modified crops in China.

    Science.gov (United States)

    Li, Yunhe; Peng, Yufa; Hallerman, Eric M; Wu, Kongming

    2014-04-01

    As a developing country with relatively limited arable land, China is making great efforts for development and use of genetically modified (GM) crops to boost agricultural productivity. Many GM crop varieties have been developed in China in recent years; in particular, China is playing a leading role in development of insect-resistant GM rice lines. To ensure the safe use of GM crops, biosafety risk assessments are required as an important part of the regulatory oversight of such products. With over 20 years of nationwide promotion of agricultural biotechnology, a relatively well-developed regulatory system for risk assessment and management of GM plants has been developed that establishes a firm basis for safe use of GM crops. So far, a total of seven GM crops involving ten events have been approved for commercial planting, and 5 GM crops with a total of 37 events have been approved for import as processing material in China. However, currently only insect-resistant Bt cotton and disease-resistant papaya have been commercially planted on a large scale. The planting of Bt cotton and disease-resistant papaya have provided efficient protection against cotton bollworms and Papaya ringspot virus (PRSV), respectively. As a consequence, chemical application to these crops has been significantly reduced, enhancing farm income while reducing human and non-target organism exposure to toxic chemicals. This article provides useful information for the colleagues, in particular for them whose mother tongue is not Chinese, to clearly understand the biosafety regulation and commercial use of genetically modified crops in China.

  7. A suite of microsatellite markers for genetic management of captive cracids (Aves, Galliformes).

    Science.gov (United States)

    Costa, M C; Camargo, C; Laganaro, N M; Oliveira, P R R; Davanço, P V; Azeredo, R M A; Simpson, J G P; Silveira, L F; Francisco, M R

    2014-11-27

    Cracids are medium to large frugivorous birds that are endemic to the Neotropics. Because of deforestation and overhunting, many species are threatened. The conservation of several species has relied on captive breeding and reintroduction in the wild, but captive populations may be inbred. Microsatellite tools can permit the construction of genetic pedigrees to reduce inbreeding, but only a few loci are available for this group of birds. Here, we present 10 novel polymorphic microsatellite loci and the cross-amplification of these and of 10 additional loci available in the literature in a panel of 5 cracid species, including 3 species with high conservation concern. We provide the first polymorphic loci for the jacutinga, Aburria jacutinga (N = 8), and red-billed curassow, Crax blumenbachii (N = 9), and additional loci for bare-faced curassow, C. fasciolata (N = 8), Alagoas curassow, Pauxi mitu (N = 5), and razor-billed curassow, P. tuberosa (N = 5). The average number of alleles was 2.9 for A. jacutinga, 2.7 for C. blumenbachii, 3.5 for C. fasciolata, 2.6 for P. mitu, and 5.7 for P. tuberosa. The mean expected heterozygosities were 0.42, 0.40, 0.48, 0.37, and 0.59, respectively. The average probabilities that the set of loci would not exclude a pair of parents of an arbitrary offspring were 2.9% in A. jacutinga, 1% in C. blumenbachii, 0.5% in C. fasciolata, 0.4% in P. mitu, and 0.002% in P. tuberosa suggesting that these loci may be adequate for parentage analysis and to implement ex situ genetic management plans.

  8. Anderson-Fabry, the histrionic disease: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Franco Cecchi

    2013-02-01

    Full Text Available Anderson-Fabry disease (AFD is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A enzyme. The disease may affect males and females, the latter with an average 10 years delay. Metabolites storage (mostly Gb3 and lyso-Gb3 leads to progressive cellular and multiorgan dysfunction, with either early and late onset variable clinical manifestations that usually reduce quality of life and life expectancy. Heart and kidney failure, stroke and sudden death are the most devastating complications. AFD is always been considered a very rare disease, although new epidemiologic data, based on newborn screening, showed that AFD prevalence is probably underestimated and much higher than previously reported, especially for late-onset atypical phenotypes. Currently, the diagnosis may be easier and simpler by evaluating α-gal A enzyme activity and genetic analysis for GLA gene mutations on dried blood spot. While a marked α-gal A deficiency leads to diagnosis of AFD in hemizygous males, the molecular analysis is mandatory in heterozygous females. However, referral to a center with an expert multidisciplinary team is highly advisable, in order to ensure careful management and treatment of patients, based also on accurate molecular and biochemical data interpretation. While long-term efficacy of enzyme replacement therapy (ERT in advanced stage is still debated, increasing evidence shows greater efficacy of early treatment initiation. Concomitant, organ-specific therapy is also needed. New treatment approaches, such as chemical chaperone therapy, alone or in combination with ERT, are currently under investigation. The present review illustrates the major features of the disease, focusing also on biochemical and genetic aspects.

  9. Phylogeography, Genetic Diversity, and Management Units of Hawksbill Turtles in the Indo-Pacific.

    Science.gov (United States)

    Vargas, Sarah M; Jensen, Michael P; Ho, Simon Y W; Mobaraki, Asghar; Broderick, Damien; Mortimer, Jeanne A; Whiting, Scott D; Miller, Jeff; Prince, Robert I T; Bell, Ian P; Hoenner, Xavier; Limpus, Colin J; Santos, Fabrício R; FitzSimmons, Nancy N

    2016-05-01

    Hawksbill turtle (Eretmochelys imbricata) populations have experienced global decline because of a history of intense commercial exploitation for shell and stuffed taxidermied whole animals, and harvest for eggs and meat. Improved understanding of genetic diversity and phylogeography is needed to aid conservation. In this study, we analyzed the most geographically comprehensive sample of hawksbill turtles from the Indo-Pacific Ocean, sequencing 766 bp of the mitochondrial control region from 13 locations (plus Aldabra, n = 4) spanning over 13500 km. Our analysis of 492 samples revealed 52 haplotypes distributed in 5 divergent clades. Diversification times differed between the Indo-Pacific and Atlantic lineages and appear to be related to the sea-level changes that occurred during the Last Glacial Maximum. We found signals of demographic expansion only for turtles from the Persian Gulf region, which can be tied to a more recent colonization event. Our analyses revealed evidence of transoceanic migration, including connections between feeding grounds from the Atlantic Ocean and Indo-Pacific rookeries. Hawksbill turtles appear to have a complex pattern of phylogeography, showing a weak isolation by distance and evidence of multiple colonization events. Our novel dataset will allow mixed-stock analyses of hawksbill turtle feeding grounds in the Indo-Pacific by providing baseline data needed for conservation efforts in the region. Eight management units are proposed in our study for the Indo-Pacific region that can be incorporated in conservation plans of this critically endangered species. © The American Genetic Association. 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  10. Diagnosis and pathology of endocrine diseases

    International Nuclear Information System (INIS)

    Shriver, B.D.

    1988-01-01

    This book contains 22 papers under the headings of Diagnosis and Pathology of endocrine diseases. Topics covered include: Laboratory tests in the diagnosis and management of thyroid disorders, Pathology of thyroid diseases, Diagnosis of adrenourtical disease, Radiologic techniques in evaluating endocrine disorders; and the Pituitary and adrenal glands

  11. Diagnosis and pathology of endocrine diseases

    Energy Technology Data Exchange (ETDEWEB)

    Shriver, B.D.

    1988-01-01

    This book contains 22 papers under the headings of Diagnosis and Pathology of endocrine diseases. Topics covered include: Laboratory tests in the diagnosis and management of thyroid disorders, Pathology of thyroid diseases, Diagnosis of adrenourtical disease, Radiologic techniques in evaluating endocrine disorders; and the Pituitary and adrenal glands.

  12. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  13. Improved weight management using genetic information to personalize a calorie controlled diet

    Directory of Open Access Journals (Sweden)

    Florou Anna

    2007-10-01

    Full Text Available Abstract Background Gene-environment studies demonstrate variability in nutrient requirements depending upon individual variations in genes affecting nutrient metabolism and transport. This study investigated whether the inclusion of genetic information to personalize a patient's diet (nutrigenetics could improve long term weight management. Methods Patients with a history of failures at weight loss were offered a nutrigenetic test screening 24 variants in 19 genes involved in metabolism. 50 patients were in the nutrigenetic group and 43 patients attending the same clinic were selected for comparison using algorithms to match the characteristics: age, sex, frequency of clinical visits and BMI at initial clinic visit. The second group of 43 patients did not receive a nutrigenetic test. BMI reduction at 100 and > 300 days and blood fasting glucose were measured. Results After 300 days of follow-up individuals in the nutrigenetic group were more likely to have maintained some weight loss (73% than those in the comparison group (32%, resulting in an age and gender adjusted OR of 5.74 (95% CI 1.74–22.52. Average BMI reduction in the nutrigenetic group was 1.93 kg/m2(5.6% loss vs. an average BMI gain of 0.51 kg/m2(2.2% gain (p 100 mg/dL, 57% (17/30 of the nutrigenetic group but only 25% (4/16 of the non-tested group had levels reduced to 90 days of weight management therapy (OR for lowering glucose to Conclusion Addition of nutrigenetically tailored diets resulted in better compliance, longer-term BMI reduction and improvements in blood glucose levels.

  14. Diversity of management strategies in Mesoamerican turkeys: archaeological, isotopic and genetic evidence

    Science.gov (United States)

    Manin, Aurelie; Corona-M, Eduardo; Craig, Abigail; Thornton, Erin Kennedy; Yang, Dongya Y.; Richards, Michael

    2018-01-01

    The turkey (Meleagris gallopavo) represents one of the few domestic animals of the New World. While current research points to distinct domestication centres in the Southwest USA and Mesoamerica, several questions regarding the number of progenitor populations, and the timing and intensity of turkey husbandry remain unanswered. This study applied ancient mitochondrial DNA and stable isotope (δ13C, δ15N) analysis to 55 archaeological turkey remains from Mexico to investigate pre-contact turkey exploitation in Mesoamerica. Three different (sub)species of turkeys were identified in the archaeological record (M. g. mexicana, M. g. gallopavo and M. ocellata), indicating the exploitation of diverse local populations, as well as the trade of captively reared birds into the Maya area. No evidence of shared maternal haplotypes was observed between Mesoamerica and the Southwest USA, in contrast with archaeological evidence for trade of other domestic products. Isotopic analysis indicates a range of feeding behaviours in ancient Mesoamerican turkeys, including wild foraging, human provisioning and mixed feeding ecologies. This variability in turkey diet decreases through time, with archaeological, genetic and isotopic evidence all pointing to the intensification of domestic turkey management and husbandry, culminating in the Postclassic period. PMID:29410864

  15. Diversity of management strategies in Mesoamerican turkeys: archaeological, isotopic and genetic evidence.

    Science.gov (United States)

    Manin, Aurelie; Corona-M, Eduardo; Alexander, Michelle; Craig, Abigail; Thornton, Erin Kennedy; Yang, Dongya Y; Richards, Michael; Speller, Camilla F

    2018-01-01

    The turkey ( Meleagris gallopavo ) represents one of the few domestic animals of the New World. While current research points to distinct domestication centres in the Southwest USA and Mesoamerica, several questions regarding the number of progenitor populations, and the timing and intensity of turkey husbandry remain unanswered. This study applied ancient mitochondrial DNA and stable isotope ( δ 13 C, δ 15 N) analysis to 55 archaeological turkey remains from Mexico to investigate pre-contact turkey exploitation in Mesoamerica. Three different (sub)species of turkeys were identified in the archaeological record ( M. g. mexicana , M. g. gallopavo and M. ocellata ), indicating the exploitation of diverse local populations, as well as the trade of captively reared birds into the Maya area. No evidence of shared maternal haplotypes was observed between Mesoamerica and the Southwest USA, in contrast with archaeological evidence for trade of other domestic products. Isotopic analysis indicates a range of feeding behaviours in ancient Mesoamerican turkeys, including wild foraging, human provisioning and mixed feeding ecologies. This variability in turkey diet decreases through time, with archaeological, genetic and isotopic evidence all pointing to the intensification of domestic turkey management and husbandry, culminating in the Postclassic period.

  16. Population genetics of Ceratitis capitata in South Africa: implications for dispersal and pest management.

    Science.gov (United States)

    Karsten, Minette; van Vuuren, Bettine Jansen; Barnaud, Adeline; Terblanche, John S

    2013-01-01

    The invasive Mediterranean fruit fly (medfly), Ceratitis capitata, is one of the major agricultural and economical pests globally. Understanding invasion risk and mitigation of medfly in agricultural landscapes requires knowledge of its population structure and dispersal patterns. Here, estimates of dispersal ability are provided in medfly from South Africa at three spatial scales using molecular approaches. Individuals were genotyped at 11 polymorphic microsatellite loci and a subset of individuals were also sequenced for the mitochondrial cytochrome oxidase subunit I gene. Our results show that South African medfly populations are generally characterized by high levels of genetic diversity and limited population differentiation at all spatial scales. This suggests high levels of gene flow among sampling locations. However, natural dispersal in C. capitata has been shown to rarely exceed 10 km. Therefore, documented levels of high gene flow in the present study, even between distant populations (>1600 km), are likely the result of human-mediated dispersal or at least some form of long-distance jump dispersal. These findings may have broad applicability to other global fruit production areas and have significant implications for ongoing pest management practices, such as the sterile insect technique.

  17. Population genetics of Ceratitis capitata in South Africa: implications for dispersal and pest management.

    Directory of Open Access Journals (Sweden)

    Minette Karsten

    Full Text Available The invasive Mediterranean fruit fly (medfly, Ceratitis capitata, is one of the major agricultural and economical pests globally. Understanding invasion risk and mitigation of medfly in agricultural landscapes requires knowledge of its population structure and dispersal patterns. Here, estimates of dispersal ability are provided in medfly from South Africa at three spatial scales using molecular approaches. Individuals were genotyped at 11 polymorphic microsatellite loci and a subset of individuals were also sequenced for the mitochondrial cytochrome oxidase subunit I gene. Our results show that South African medfly populations are generally characterized by high levels of genetic diversity and limited population differentiation at all spatial scales. This suggests high levels of gene flow among sampling locations. However, natural dispersal in C. capitata has been shown to rarely exceed 10 km. Therefore, documented levels of high gene flow in the present study, even between distant populations (>1600 km, are likely the result of human-mediated dispersal or at least some form of long-distance jump dispersal. These findings may have broad applicability to other global fruit production areas and have significant implications for ongoing pest management practices, such as the sterile insect technique.

  18. Heuristic rules embedded genetic algorithm for in-core fuel management optimization

    Science.gov (United States)

    Alim, Fatih

    The objective of this study was to develop a unique methodology and a practical tool for designing loading pattern (LP) and burnable poison (BP) pattern for a given Pressurized Water Reactor (PWR) core. Because of the large number of possible combinations for the fuel assembly (FA) loading in the core, the design of the core configuration is a complex optimization problem. It requires finding an optimal FA arrangement and BP placement in order to achieve maximum cycle length while satisfying the safety constraints. Genetic Algorithms (GA) have been already used to solve this problem for LP optimization for both PWR and Boiling Water Reactor (BWR). The GA, which is a stochastic method works with a group of solutions and uses random variables to make decisions. Based on the theories of evaluation, the GA involves natural selection and reproduction of the individuals in the population for the next generation. The GA works by creating an initial population, evaluating it, and then improving the population by using the evaluation operators. To solve this optimization problem, a LP optimization package, GARCO (Genetic Algorithm Reactor Code Optimization) code is developed in the framework of this thesis. This code is applicable for all types of PWR cores having different geometries and structures with an unlimited number of FA types in the inventory. To reach this goal, an innovative GA is developed by modifying the classical representation of the genotype. To obtain the best result in a shorter time, not only the representation is changed but also the algorithm is changed to use in-core fuel management heuristics rules. The improved GA code was tested to demonstrate and verify the advantages of the new enhancements. The developed methodology is explained in this thesis and preliminary results are shown for the VVER-1000 reactor hexagonal geometry core and the TMI-1 PWR. The improved GA code was tested to verify the advantages of new enhancements. The core physics code

  19. Insulin dysfunction and Tau pathology

    Directory of Open Access Journals (Sweden)

    Noura eEl Khoury

    2014-02-01

    Full Text Available The neuropathological hallmarks of Alzheimer's disease (AD include senile plaques of β-amyloid (Aβ peptides (a cleavage product of the Amyloid Precursor Protein, or APP and neurofibrillary tangles (NFT of hyperphosphorylated Tau protein assembled in paired helical filaments (PHF. NFT pathology is important since it correlates with the degree of cognitive impairment in AD.Only a small proportion of AD is due to genetic variants, whereas the large majority of cases (~99% is late onset and sporadic in origin. The cause of sporadic AD is likely to be multifactorial, with external factors interacting with biological or genetic susceptibilities to accelerate the manifestation of the disease.Insulin dysfunction, manifested by diabetes mellitus (DM might be such factor, as there is extensive data from epidemiological studies suggesting that DM is associated with an increased relative risk for AD. Type 1 diabetes (T1DM and type 2 diabetes (T2DM are known to affect multiple cognitive functions in patients. In this context, understanding the effects of diabetes on Tau pathogenesis is important since tau pathology show a strong relationship to dementia in AD, and to memory loss in normal aging and mild cognitive impairment.Here, we reviewed preclinical studies that link insulin dysfunction to Tau protein pathogenesis, one of the major pathological hallmarks of AD. We found more than 30 studies reporting on Tau phosphorylation in a mouse or rat model of insulin dysfunction. We also payed attention to potential sources of artifacts, such as hypothermia and anesthesia, that were demonstrated to results in Tau hyperphosphorylation and could major confounding experimental factors. We found that very few studies reported the temperature of the animals, and only a handful did not use anesthesia. Overall, most published studies showed that insulin dysfunction can promote Tau hyperphosphorylation and pathology, both directly and indirectly, through hypothermia.

  20. Pathology Assistant (C - Gamechanger Of Pathology Diagnostic

    Directory of Open Access Journals (Sweden)

    Asel Kudaybergenova

    2016-06-01

    When the competition ended, we received many favor- able reviews and we decided to start another project a little bit similar to the competition. Every month we show three interesting and difficult to diagnose cases provided by the leading Russian pathologists. The participants can look through the clinical data and digitized histological slides, and then discuss what they see among their professional society. There are 400  specialists  from  post  USSR countries.  Moreover, we get a few proposal of partnership to start a similar project in EU. And the last product in line is Pathology Assistant. It is a game changer. Pathology Assistant is a Digital Pathology©technology driven application for pathology diagnostics, tool to innovate pathology diagnostics in more simple, proven by analytical algo- rithm, automatically delivering anticipated support way. The service provides vast and structured database of validated cases, intuitive interface, fast and convenient system of analytical search. Pathology Assistant will streamline and simplify pathologist’s way to the right decision. Pathologists from Memorial Sloan Catering and biggest EU labs are working on preparing the con- tent for the project.  

  1. A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems.

    Science.gov (United States)

    Araújo, Luciano V; Malkowski, Simon; Braghetto, Kelly R; Passos-Bueno, Maria R; Zatz, Mayana; Pu, Calton; Ferreira, João E

    2011-12-22

    Recent medical and biological technology advances have stimulated the development of new testing systems that have been providing huge, varied amounts of molecular and clinical data. Growing data volumes pose significant challenges for information processing systems in research centers. Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes. This paper describes a formal approach to address this challenge through the implementation of a genetic testing management system applied to human genome laboratory. We introduced the Human Genome Research Center Information System (CEGH) in Brazil, a system that is able to support constant changes in human genome testing and can provide patients updated results based on the most recent and validated genetic knowledge. Our approach uses a common repository for process planning to ensure reusability, specification, instantiation, monitoring, and execution of processes, which are defined using a relational database and rigorous control flow specifications based on process algebra (ACP). The main difference between our approach and related works is that we were able to join two important aspects: 1) process scalability achieved through relational database implementation, and 2) correctness of processes using process algebra. Furthermore, the software allows end users to define genetic testing without requiring any knowledge about business process notation or process algebra. This paper presents the CEGH information system that is a Laboratory Information Management System (LIMS) based on a formal framework to support genetic testing management for Mendelian disorder studies. We have proved the feasibility and showed usability benefits of a rigorous approach that is able to specify, validate, and perform genetic testing using easy end user interfaces.

  2. Evaluating genetic traceability methods for captive-bred marine fish and their applications in fisheries management and wildlife forensics

    OpenAIRE

    Bylemans, Jonas; Maes, Gregory E.; Diopere, Eveline; Cariani, Alessia; Senn, Helen; Taylor, Martin I.; Helyar, Sarah; Bargelloni, Luca; Bonaldo, Alessio; Carvalho, Gary; Guarniero, Ilaria; Komen, Hans; Martinsohn, Jann Th; Eg Nielsen, Einar; Tinti, Fausto

    2016-01-01

    Growing demands for marine fish products is leading to increased pressure on already depleted wild populations and a rise in aquaculture production. Consequently, more captive-bred fish are released into the wild through accidental escape or deliberate releases. The increased mixing of captive-bred and wild fish may affect the ecological and/or genetic integrity of wild fish populations. Unambiguous identification tools for captive-bred fish will be highly valuable to manage risks (fisheries ...

  3. Genetic and agronomic assessment of cob traits in corn under low and normal nitrogen management conditions.

    Science.gov (United States)

    Jansen, Constantin; Zhang, Yongzhong; Liu, Hongjun; Gonzalez-Portilla, Pedro J; Lauter, Nick; Kumar, Bharath; Trucillo-Silva, Ignacio; Martin, Juan Pablo San; Lee, Michael; Simcox, Kevin; Schussler, Jeff; Dhugga, Kanwarpal; Lübberstedt, Thomas

    2015-07-01

    Exploring and understanding the genetic basis of cob biomass in relation to grain yield under varying nitrogen management regimes will help breeders to develop dual-purpose maize. With rising energy demands and costs for fossil fuels, alternative energy from renewable sources such as maize cobs will become competitive. Maize cobs have beneficial characteristics for utilization as feedstock including compact tissue, high cellulose content, and low ash and nitrogen content. Nitrogen is quantitatively the most important nutrient for plant growth. However, the influence of nitrogen fertilization on maize cob production is unclear. In this study, quantitative trait loci (QTL) have been analyzed for cob morphological traits such as cob weight, volume, length, diameter and cob tissue density, and grain yield under normal and low nitrogen regimes. 213 doubled-haploid lines of the intermated B73 × Mo17 (IBM) Syn10 population have been resequenced for 8575 bins, based on SNP markers. A total of 138 QTL were found for six traits across six trials using composite interval mapping with ten cofactors and empirical comparison-wise thresholds (P = 0.001). Despite moderate to high repeatabilities across trials, few QTL were consistent across trials and overall levels of explained phenotypic variance were lower than expected some of the cob trait × trial combinations (R (2) = 7.3-43.1 %). Variation for cob traits was less affected by nitrogen conditions than by grain yield. Thus, the economics of cob usage under low nitrogen regimes is promising.

  4. Management of insect pests: Nuclear and related molecular and genetic techniques

    International Nuclear Information System (INIS)

    1993-01-01

    The conference was organized in eight sessions: opening, genetic engineering and molecular biology, genetics, operational programmes, F 1 sterility and insect behaviour, biocontrol, research and development on the tsetse fly, and quarantine. The 64 individual contributions have been indexed separately for INIS. Refs, figs and tabs

  5. Quality in pathology laboratory practice.

    Science.gov (United States)

    Weinstein, S

    1995-06-01

    Quality refers not only to analytical quality control, a traditional area of laboratory excellence, but to the entire science of quality management. As measures of quality, structural indicators refer to staffing and physical facilities, process indicators to the institutions operations and, perhaps most importantly, outcome indicators address the ultimate patient care uses that pathology information is put to. Comparison of performance to peer laboratories, external quality control, is a practical, if limited, yardstick of performance. Customer satisfaction and turn-around-time of tests are receiving more recent attention as quality measures. Blood banking, because of its inherently complex cycle from donor phlebotomy to product infusion, requires special considerations with regard to quality management. Reporting of anatomical pathology, where the only gold standard is a consensus of experts, also does not lend itself to classical numerical quality assessment.

  6. Wolf population genetics in Europe: a systematic review, meta-analysis and suggestions for conservation and management.

    Science.gov (United States)

    Hindrikson, Maris; Remm, Jaanus; Pilot, Malgorzata; Godinho, Raquel; Stronen, Astrid Vik; Baltrūnaité, Laima; Czarnomska, Sylwia D; Leonard, Jennifer A; Randi, Ettore; Nowak, Carsten; Åkesson, Mikael; López-Bao, José Vicente; Álvares, Francisco; Llaneza, Luis; Echegaray, Jorge; Vilà, Carles; Ozolins, Janis; Rungis, Dainis; Aspi, Jouni; Paule, Ladislav; Skrbinšek, Tomaž; Saarma, Urmas

    2017-08-01

    The grey wolf (Canis lupus) is an iconic large carnivore that has increasingly been recognized as an apex predator with intrinsic value and a keystone species. However, wolves have also long represented a primary source of human-carnivore conflict, which has led to long-term persecution of wolves, resulting in a significant decrease in their numbers, genetic diversity and gene flow between populations. For more effective protection and management of wolf populations in Europe, robust scientific evidence is crucial. This review serves as an analytical summary of the main findings from wolf population genetic studies in Europe, covering major studies from the 'pre-genomic era' and the first insights of the 'genomics era'. We analyse, summarize and discuss findings derived from analyses of three compartments of the mammalian genome with different inheritance modes: maternal (mitochondrial DNA), paternal (Y chromosome) and biparental [autosomal microsatellites and single nucleotide polymorphisms (SNPs)]. To describe large-scale trends and patterns of genetic variation in European wolf populations, we conducted a meta-analysis based on the results of previous microsatellite studies and also included new data, covering all 19 European countries for which wolf genetic information is available: Norway, Sweden, Finland, Estonia, Latvia, Lithuania, Poland, Czech Republic, Slovakia, Germany, Belarus, Russia, Italy, Croatia, Bulgaria, Bosnia and Herzegovina, Greece, Spain and Portugal. We compared different indices of genetic diversity in wolf populations and found a significant spatial trend in heterozygosity across Europe from south-west (lowest genetic diversity) to north-east (highest). The range of spatial autocorrelation calculated on the basis of three characteristics of genetic diversity was 650-850 km, suggesting that the genetic diversity of a given wolf population can be influenced by populations up to 850 km away. As an important outcome of this synthesis, we

  7. Patterns of deep-sea genetic connectivity in the New Zealand region: implications for management of benthic ecosystems.

    Directory of Open Access Journals (Sweden)

    Eleanor K Bors

    Full Text Available Patterns of genetic connectivity are increasingly considered in the design of marine protected areas (MPAs in both shallow and deep water. In the New Zealand Exclusive Economic Zone (EEZ, deep-sea communities at upper bathyal depths (<2000 m are vulnerable to anthropogenic disturbance from fishing and potential mining operations. Currently, patterns of genetic connectivity among deep-sea populations throughout New Zealand's EEZ are not well understood. Using the mitochondrial Cytochrome Oxidase I and 16S rRNA genes as genetic markers, this study aimed to elucidate patterns of genetic connectivity among populations of two common benthic invertebrates with contrasting life history strategies. Populations of the squat lobster Munida gracilis and the polychaete Hyalinoecia longibranchiata were sampled from continental slope, seamount, and offshore rise habitats on the Chatham Rise, Hikurangi Margin, and Challenger Plateau. For the polychaete, significant population structure was detected among distinct populations on the Chatham Rise, the Hikurangi Margin, and the Challenger Plateau. Significant genetic differences existed between slope and seamount populations on the Hikurangi Margin, as did evidence of population differentiation between the northeast and southwest parts of the Chatham Rise. In contrast, no significant population structure was detected across the study area for the squat lobster. Patterns of genetic connectivity in Hyalinoecia longibranchiata are likely influenced by a number of factors including current regimes that operate on varying spatial and temporal scales to produce potential barriers to dispersal. The striking difference in population structure between species can be attributed to differences in life history strategies. The results of this study are discussed in the context of existing conservation areas that are intended to manage anthropogenic threats to deep-sea benthic communities in the New Zealand region.

  8. True recurrence vs. new primary ipsilateral breast tumor relapse: An analysis of clinical and pathologic differences and their implications in natural history, prognoses, and therapeutic management

    International Nuclear Information System (INIS)

    Smith, Tanya E.; Lee, Daesung; Turner, Bruce C.; Carter, Darryl; Haffty, Bruce G.

    2000-01-01

    Purpose: The purpose of this study was to classify all ipsilateral breast tumor relapses (IBTR) in patients treated with conservative surgery and radiation therapy (CS+RT) as either new primary tumors (NP) or true local recurrences (TR) and to assess the prognostic and therapeutic implications of this classification. Methods and Materials: Of the 1152 patients who have been treated at Yale-New Haven Hospital before 1990, 136 patients have experienced IBTR as their primary site of failure. These relapses were classified as either NP or TR. Specifically, patients were classified as NP if the recurrence was distinctly different from the primary tumor with respect to the histologic subtype, the recurrence location was in a different location, or if the flow cytometry changed from aneuploid to diploid. This information was determined by a detailed review of each patient's hospital and/or radiotherapy record, mammograms, and pathologic reports. Results: As of 2/99, with a mean follow-up of 14.2 years, the overall ipsilateral breast relapse-free rate for all 1152 patients was 86% at 10 years. Using the classification scheme outlined above, 60 patient relapses were classified as TR, 70 were classified as NP and 6 were unable to be classified. NP patients had a longer mean time to breast relapse than TR patients (7.3 years vs. 3.7 years, p < 0.0001) and were significantly younger than TR patients (48.9 years vs. 54.5 years, p < 0.01). Patients developed both TR and NP at similar rates until approximately 8 years, when TR rates stabilized but NP rates continued to rise. By 15 years following original diagnosis, the TR rate was 6.8% compared to 13.1% for NP. Of the patients who had been previously tested for BRCA1/2 mutations, 17% (8/52) had deleterious mutations. It is noteworthy that all patients with deleterious mutations had new primary IBTR, while patients without deleterious mutations had both TR and NP (p = 0.06). Ploidy was evenly distributed between TR and NP but NP

  9. Governing the management and use of pooled microbial genetic resources: Lessons from the global crop commons

    Directory of Open Access Journals (Sweden)

    Michael Halewood

    2010-01-01

    Full Text Available The paper highlights lessons learned over the last thirty years establishing a governance structure for the global crop commons that are of relevance to current champions of the microbial commons. It argues that the political, legal and biophysical situation in which microbial genetic resources (and their users are located today are similar to the situation of plant genetic resources in the mid-1990s, before the International Treaty on Plant Genetic Resources was negotiated. Consequently, the paper suggests that it may be useful to look to the model of global network of ex situ plant genetic resources collections as a precedent to follow – even if only loosely – in developing an intergovernmentally endorsed legal substructure and governance framework for the microbial commons.

  10. Genetic variations in marine natural population - Measurement and utility in resource management and conservation: A review

    Digital Repository Service at National Institute of Oceanography (India)

    Menezes, M.R.; Parulekar, A.H.

    A number of molecular and biochemical tools which can be applied to the identification of species and the detection of genetic variation within species have been developed in recent years. All these methods rely on the ability to distinguish between...

  11. Simulation Optimization by Genetic Search: A Comprehensive Study with Applications to Production Management

    National Research Council Canada - National Science Library

    Yunker, James

    2003-01-01

    In this report, a relatively new simulation optimization technique, the genetic search, is compared to two more established simulation techniques-the pattern search and the response surface methodology search...

  12. Pathology in Greece.

    Science.gov (United States)

    Sakellariou, S; Patsouris, E

    2015-11-01

    Pathology is the field of medicine that studies diseases. Ancient Greece hosted some of the earliest societies that laid the structural foundations of pathology. Initially, knowledge was based on observations but later on the key elements of pathology were established based on the dissection of animals and the autopsy of human cadavers. Christianized Greece under Ottoman rule (1453-1821) was not conducive to the development of pathology. After liberation, however, a series of events took place that paved the way for the establishment and further development of the specialty. The appointment in 1849 of two Professors of Pathology at the Medical School of Athens for didactical purposes proved to be the most important step in fostering the field of pathology in modern Greece. Presently in Greece there are seven university departments and 74 pathology laboratories in public hospitals, employing 415 specialized pathologists and 90 residents. The First Department of Pathology at the Medical School of Athens University is the oldest (1849) and largest in Greece, encompassing most pathology subspecialties.

  13. Forest pathology in Hawaii

    Science.gov (United States)

    Gardner, D.E.

    2003-01-01

    Native Hawaiian forests are characterised by a high degree of endemism, including pathogens as well as their hosts. With the exceptions of koa (Acacia koa Gray), possibly maile (Alyxia oliviformis Gaud.), and, in the past, sandalwood (Santalum spp.), forest species are of little commercial value. On the other hand, these forests are immensely important from a cultural, ecological, and evolutionary standpoint. Forest disease research was lacking during the mid-twentieth century, but increased markedly with the recognition of ohia (Metrosideros polymorpha Gaud.) decline in the 1970s. Because many pathogens are themselves endemic, or are assumed to be, having evolved with their hosts, research emphasis in natural areas is on understanding host-parasite interactions and evolutionary influences, rather than disease control. Aside from management of native forests, attempts at establishing a commercial forest industry have included importation of several species of pine, Araucaria, and Eucalyptus as timber crops, and of numerous ornamentals. Diseases of these species have been introduced with their hosts. The attacking of native species by introduced pathogens is problematic - for example, Armillaria mellea (Vahl ex Fr.) Que??l. on koa and mamane (Sophora chrysophylla (Salisb.) Seem.). Much work remains to be done in both native and commercial aspects of Hawaiian forest pathology.

  14. Genetic Discrimination

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  15. Management of genetic resources in the nursery system of wild cherry (Prunus avium L.

    Directory of Open Access Journals (Sweden)

    Proietti R

    2006-01-01

    Full Text Available Knowledge of genetic and adaptive traits of reproductive materials used in the nursery system of wild cherry, could be an useful instrument to improve ecological and economic sustainability of plantation ecosystems. This work reports results from a research which the objectives were: 1 to study the genetic variation of a Prunus avium L. Population, used for seed harvesting, through its multi-locus genotypes detected by starch gel electrophoresis; 2 to analyze the level of genetic variation within and among different steps in a commercial nursery system (basic population and sub-populations, seedlings aged S1T1 and S1T2, plantation. Results showed low genetic variation levels of the basic population, similar to a reference system of other 12 wild cherry Italian populations and to other French and Caucasian materials. The genetic distances among Monte Baldo and some closer Lombardy provenances (Area Garda, Bosco Fontana, Valtellina were smaller than the Venice Region populations (Monti Lessini and Asiago. Number of alleles and percentage of polymorphic loci within the complex of Monte Baldo provenance and multiplication materials were similar, whilst a variable value of Fis was noted. Indeed, along with the nursery system until the plantation, heterozygosis initially (S1T1 increased, then decreased proceeding to the plantation. This fluctuation of FIS values could be determined by seed lots characterized initially by higher levels of variation, due to self-incompatibility. In the following steps, a possible selection pressure can affect randomly the genotypic structure of wild cherry by increasing the homozygosity. There is not among population a well defined geographic characterization, as suggested by genetic distances, therefore homogeneous seed harvest could be established an area larger than geographic and administrative borders. On this way we could have reproductive material with a wide genetic base and environmental adaptability. To

  16. LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

    Science.gov (United States)

    Al-Harbi, Khalid M; Abdallah, Atiyeh M

    2016-09-01

    We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure. This is only the second reported case of the p.L76F mutation in LGMD, and highlights that molecular genetics analysis is essential to deliver the most appropriate management to the patient and offer the family genetic counseling.

  17. Pathological gambling and criminality.

    Science.gov (United States)

    Folino, Jorge Oscar; Abait, Patricia Estela

    2009-09-01

    To review research results on the relationship between pathological gambling and criminality, published in 2007 and 2008, in English and in Spanish. An important association between pathological gambling and criminality was confirmed in populations of anonymous gamblers, helpline callers and substance abusers. Helplines provide a timely service to gamblers who have not reached the maximum stages in the development of a pathological gambling pattern. Pathological gambling is associated with violence in couples and dysfunctional families. Inversely, violence is also an antecedent promoting vulnerability toward pathological gambling. Impulsiveness shows diverse relationships with pathological gambling and violence as well. A pathological gambler's involvement in crime is exceptionally considered without responsibility by justice, but it may be an indicator of the disorder severity and the need for special therapeutic tactics. While reviewing the present study, research work was published that contributed to a better understanding of the association between pathological gambling and criminality and went further into their complex relationship and the formulation of explanatory models related to impulsiveness.

  18. Radiographic pathology for technologists

    International Nuclear Information System (INIS)

    Mace, J.D.; Kowalczyk, N.

    1988-01-01

    This book explains the fundamentals of disease mechanisms and relates this to the practice of radiologic science. Each chapter begins with a discussion of normal anatomy and physiology, then covers pathology and demonstrates how the pathology appears on film. Imaging modalities such as computed tomography, MRI, and ultrasound are also discussed. Clinical case studies are included

  19. Pathology annual. Part 2

    International Nuclear Information System (INIS)

    Rosen, P.P.

    1987-01-01

    This book contains 11 selections. Some of the titles are: Applications of in situ DNA hybridization technology to diagnostic surgical pathology; Neoplasms associated with immune deficiencies; Chronic gastritis: The pathologists's role; Necrosis in lymph nodes; Pathologic changes of osteochondrodysplasia in infancy: A review; and Immunoglobulin light chain nephropathies

  20. Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance.

    Science.gov (United States)

    Riley, Jacquelyn D; Procop, Gary W; Kottke-Marchant, Kandice; Wyllie, Robert; Lacbawan, Felicitas L

    2015-05-01

    The ordering of molecular genetic tests by health providers not well trained in genetics may have a variety of untoward effects. These include the selection of inappropriate tests, the ordering of panels when the assessment of individual or fewer genes would be more appropriate, inaccurate result interpretation and inappropriate patient guidance, and significant unwarranted cost expenditure. We sought to improve the utilization of molecular genetic tests by requiring providers without specialty training in genetics to use genetic counselors and molecular genetic pathologists to assist in test selection. We used a genetic and genomic test review process wherein the laboratory-based genetic counselor performed the preanalytic assessment of test orders and test triage. Test indication and clinical findings were evaluated against the test panel composition, methods, and test limitations under the supervision of the molecular genetic pathologist. These test utilization management efforts resulted in a decrease in genetic test ordering and a gross cost savings of $1,531,913 since the inception of these programs in September 2011 through December 2013. The combination of limiting the availability of complex genetic tests and providing guidance regarding appropriate test strategies is an effective way to improve genetic tests, contributing to judicious use of limited health care resources. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  1. Benign breast diseases. Radiology, pathology, risk assessment. 2. ed.

    International Nuclear Information System (INIS)

    Chinyama, Catherine N.

    2014-01-01

    Radiological and pathological correlation of the full range of benign breast lesions, with emphasis on screen-detected lesions. Detailed discussion of risk assessment. Revised and updated edition, with a new chapter on gynaecomastia. Ideal aid to the management of patients with benign or indeterminate breast lesions in a multidisciplinary setting. The second edition of this book has been extensively revised and updated. There have been numerous scientific advances in the radiology, pathology and risk assessment of benign breast lesions since the publication of the first edition. The first edition concentrated on screen-detected lesions, which has since been rectified; new symptomatic and screen-detected lesions are discussed in the second edition and include: mastitis and breast abscesses, idiopathic granulomatous mastitis, diabetic mastopathy, phyllodes tumours, gynaecomastia and pseudoangiomatous stromal hyperplasia. The chapters on columnar cell lesions and mucocele-like lesions have been extensively updated. Where applicable, genetic analysis of the benign lesions, which is becoming part of personalised medicine in the field of breast cancer, has been included. The book also presents detailed analyses of the main models, such as the Gail Model, used to assess the subsequent risk of breast cancer in individuals. The current trend in the management of all cancers is preventative. Screening mammography detects early curable cancers as well as indeterminate lesions, the latter of which are invariably pathologically benign. The author has collated important benign lesions and, based on peer-reviewed publications, has documented the relative risk of subsequent cancer to allow the patient and the clinician to implement preventative measures where possible. This book will therefore serve as an essential component of multidisciplinary management of patients with symptomatic and screen-detected benign breast lesions.

  2. Benign breast diseases. Radiology, pathology, risk assessment. 2. ed.

    Energy Technology Data Exchange (ETDEWEB)

    Chinyama, Catherine N. [Princess Elizabeth Hospital, Le Vauquiedor, St. Martin' s Guernsey, Channel Islands (United Kingdom); Brighton and Sussex Medical School, Brighton (United Kingdom)

    2014-04-01

    Radiological and pathological correlation of the full range of benign breast lesions, with emphasis on screen-detected lesions. Detailed discussion of risk assessment. Revised and updated edition, with a new chapter on gynaecomastia. Ideal aid to the management of patients with benign or indeterminate breast lesions in a multidisciplinary setting. The second edition of this book has been extensively revised and updated. There have been numerous scientific advances in the radiology, pathology and risk assessment of benign breast lesions since the publication of the first edition. The first edition concentrated on screen-detected lesions, which has since been rectified; new symptomatic and screen-detected lesions are discussed in the second edition and include: mastitis and breast abscesses, idiopathic granulomatous mastitis, diabetic mastopathy, phyllodes tumours, gynaecomastia and pseudoangiomatous stromal hyperplasia. The chapters on columnar cell lesions and mucocele-like lesions have been extensively updated. Where applicable, genetic analysis of the benign lesions, which is becoming part of personalised medicine in the field of breast cancer, has been included. The book also presents detailed analyses of the main models, such as the Gail Model, used to assess the subsequent risk of breast cancer in individuals. The current trend in the management of all cancers is preventative. Screening mammography detects early curable cancers as well as indeterminate lesions, the latter of which are invariably pathologically benign. The author has collated important benign lesions and, based on peer-reviewed publications, has documented the relative risk of subsequent cancer to allow the patient and the clinician to implement preventative measures where possible. This book will therefore serve as an essential component of multidisciplinary management of patients with symptomatic and screen-detected benign breast lesions.

  3. Genetic diversity and connectivity in the East African giant mud crab Scylla serrata: Implications for fisheries management.

    Directory of Open Access Journals (Sweden)

    Cyrus Rumisha

    Full Text Available The giant mud crab Scylla serrata provides an important source of income and food to coastal communities in East Africa. However, increasing demand and exploitation due to the growing coastal population, export trade, and tourism industry are threatening the sustainability of the wild stock of this species. Because effective management requires a clear understanding of the connectivity among populations, this study was conducted to assess the genetic diversity and connectivity in the East African mangrove crab S. serrata. A section of 535 base pairs of the cytochrome oxidase subunit I (COI gene and eight microsatellite loci were analysed from 230 tissue samples of giant mud crabs collected from Kenya, Tanzania, Mozambique, Madagascar, and South Africa. Microsatellite genetic diversity (He ranged between 0.56 and 0.6. The COI sequences showed 57 different haplotypes associated with low nucleotide diversity (current nucleotide diversity = 0.29%. In addition, the current nucleotide diversity was lower than the historical nucleotide diversity, indicating overexploitation or historical bottlenecks in the recent history of the studied population. Considering that the coastal population is growing rapidly, East African countries should promote sustainable fishing practices and sustainable use of mangrove resources to protect mud crabs and other marine fauna from the increasing pressure of exploitation. While microsatellite loci did not show significant genetic differentiation (p > 0.05, COI sequences revealed significant genetic divergence between sites on the East coast of Madagascar (ECM and sites on the West coast of Madagascar, mainland East Africa, as well as the Seychelles. Since East African countries agreed to achieve the Convention on Biological Diversity (CBD target to protect over 10% of their marine areas by 2020, the observed pattern of connectivity and the measured genetic diversity can serve to provide useful information for designing

  4. Effects of genetics, management intensity, and seedling density on early stocking in loblolly pine

    Science.gov (United States)

    Scott D. Roberts; Randall J. Rousseau; B. Landis Herrin

    2015-01-01

    Rapid establishment and early tree growth can be key factors in successful plantation management. This generally entails planting good quality planting stock at a seedling density appropriate for the management objectives and then managing at an appropriate intensity with a goal of fully occupying the site as quickly as possible within the context of those objectives....

  5. The use of genetics for the management of a recovering population: temporal assessment of migratory peregrine falcons in North America.

    Directory of Open Access Journals (Sweden)

    Jeff A Johnson

    2010-11-01

    Full Text Available Our ability to monitor populations or species that were once threatened or endangered and in the process of recovery is enhanced by using genetic methods to assess overall population stability and size over time. This can be accomplished most directly by obtaining genetic measures from temporally-spaced samples that reflect the overall stability of the population as given by changes in genetic diversity levels (allelic richness and heterozygosity, degree of population differentiation (F(ST and D(EST, and effective population size (N(e. The primary goal of any recovery effort is to produce a long-term self-sustaining population, and these genetic measures provide a metric by which we can gauge our progress and help make important management decisions.The peregrine falcon in North America (Falco peregrinus tundrius and anatum was delisted in 1994 and 1999, respectively, and its abundance will be monitored by the species Recovery Team every three years until 2015. Although the United States Fish and Wildlife Service makes a distinction between tundrius and anatum subspecies, our genetic results based on eleven microsatellite loci suggest limited differentiation that can be attributed to an isolation by distance relationship and warrant no delineation of these two subspecies in its northern latitudinal distribution from Alaska through Canada into Greenland. Using temporal samples collected at Padre Island, Texas during migration (seven temporal time periods between 1985-2007, no significant differences in genetic diversity or significant population differentiation in allele frequencies between time periods were observed and were indistinguishable from those obtained from tundrius/anatum breeding locations throughout their northern distribution. Estimates of harmonic mean N(e were variable and imprecise, but always greater than 500 when employing multiple temporal genetic methods.These results, including those from simulations to assess the power of

  6. Bar Coding and Tracking in Pathology.

    Science.gov (United States)

    Hanna, Matthew G; Pantanowitz, Liron

    2016-03-01

    Bar coding and specimen tracking are intricately linked to pathology workflow and efficiency. In the pathology laboratory, bar coding facilitates many laboratory practices, including specimen tracking, automation, and quality management. Data obtained from bar coding can be used to identify, locate, standardize, and audit specimens to achieve maximal laboratory efficiency and patient safety. Variables that need to be considered when implementing and maintaining a bar coding and tracking system include assets to be labeled, bar code symbologies, hardware, software, workflow, and laboratory and information technology infrastructure as well as interoperability with the laboratory information system. This article addresses these issues, primarily focusing on surgical pathology. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Pathology as the enabler of human research.

    Science.gov (United States)

    Crawford, James M; Tykocinski, Mark L

    2005-09-01

    Academic Pathology is a key player in human molecular science and in the powerful initiatives of the National Institutes of Health. Pathologists generate data crucial to virtually every molecular study of human tissue, and have the necessary skills and authority to oversee processing of human tissues for research analysis. We advocate that Academic Pathology is optimally positioned to drive the molecular revolution in study of human disease, through human tissue collection, analysis, and databasing. This can be achieved through playing a major role in human tissue procurement and management; establishing high-quality 'Pathology Resource Laboratories'; providing the scientific expertise for pathology data sharing; and recruiting and training physician scientists. Pathology should position itself to be the local institutional driver of technology implementation and development, by operating the resource laboratories, providing the expertise for technical and conceptual design of research projects, maintaining the databases that link molecular and morphological information on human tissues with the requisite clinical databases, providing education and mentorship of technology users, and nurturing new research through the development of preliminary data. We also consider that outstanding pathology journals are available for the publication of research emanating from such studies, to the benefit of the pathology profession as an academic enterprise. It is our earnest hope that Academic Pathology can play a leading role in the remarkable advances to be made as the 21st century unfolds.

  8. Genetic conservation and management of the Californian endemic, Torrey Pine (Pinus torreyana Parry)

    Science.gov (United States)

    Jill A. Hamilton; Jessica W. Wright; F. Thomas. Ledig

    2017-01-01

    Torrey pine (Pinus torreyana) is one of the rarest pine species in the world. Restricted to one mainland and one island population in California, Torrey pine is a species of conservation concern under threat due to low population sizes, lack of genetic variation, and environmental stochasticity. Previous research points to a lack of within population variation that is...

  9. Microsatellite-aided detection of genetic redundancy improves management of the International Cocoa Genebank, Trinidad

    Science.gov (United States)

    Cacao (Theobroma cacao L.), the tree from which cocoa butter and chocolate is derived, is conserved in field genebanks. The largest of these ex situ collections in the public domain is the International Cocoa Genebank, Trinidad (ICG,T). Reduction of genetic redundancy is essential to improve the acc...

  10. Nitrogen, corn, and forest genetics: the agricultural yield strategy-implications for Douglas-fir management.

    Science.gov (United States)

    Roy R. Silen

    1982-01-01

    Agricultural yield strategy simply aims to increase number of grain bearing stalks per acre. Forestry strategies look to thinning, fertilizer, and genetics, each to provide gains. The agricultural strategies applied to Douglas-fir appear to be impractical for long rotations. Concern is expressed for commitments to perpetual inputs of materials and energy to keep a...

  11. Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project

    DEFF Research Database (Denmark)

    Skytthe, A; Valensin, S; Jeune, B

    2011-01-01

    In 2004, the integrated European project GEHA (Genetics of Healthy Ageing) was initiated with the aim of identifying genes involved in healthy ageing and longevity. The first step in the project was the recruitment of more than 2500 pairs of siblings aged 90years or more together with one younger...

  12. Potential role of genetic markers in the management of kidney cancer

    NARCIS (Netherlands)

    Junker, K.; Ficarra, V.; Kwon, E.D.; Leibovich, B.C.; Thompson, R.H.; Oosterwijk, E.

    2013-01-01

    CONTEXT: Kidney cancer is not a single entity but comprises a number of different types of cancer that occur in the kidney including renal cell tumours as the most common type. Four major renal cell tumour subtypes can be distinguished based on morphologic and genetic characteristics. To

  13. Genetic diversity, kinship analysis, and broodstock management of captive Atlantic sturgeon for population restoration

    Science.gov (United States)

    Henderson, A.P.; Spidle, A.P.; King, T.L.

    2005-01-01

    Captive Atlantic sturgeon Acipenser oxyrinchus considered for use as broodstock in a restoration program were genotyped using nuclear DNA microsatellites and compared to wild collections from the Hudson River, New York (source of parents of the captive sturgeon) and from Albemarle Sound, North Carolina. Because the potential broodfish were the progeny of a small number of parents, maintaining genetic diversity and minimizing inbreeding is essential to a successful breeding and supplementation program. The microsatellite loci used in this analysis generated unique multilocus genotypes for each of 136 Atlantic sturgeon. Analyses indicated significant genetic separation between the New York and North Carolina collections and correctly identified the potential broodstock as a subset of the Hudson River population. Pairwise genetic distance (-In proportion of shared alleles) between half and full siblings in the potential broodfish was as great as 1.386, a value exceeded by only 36% of the sampled broodfish pairs available for mating. Because the current broodstock population does not seem to have deviated far from their ancestral population in the Hudson River, progeny from that broodstock, or the parents themselves, would seem to be genetically suitable for release back into the Hudson River.

  14. The genetics of shortleaf pine (Pinus echinata mill.) with implications for restoration and management

    Science.gov (United States)

    John F. Stewart; Rodney E. Will; Barbara S. Crane; C. Dana Nelson

    2016-01-01

    Shortleaf pine (Pinus echinata Mill.) is an important commercial timber resource and forest ecosystem component in the southeastern USA. The species occurs in mainly drier sites as an early- to mid-successional species, is fireadapted, and it plays an important role in the fire ecology of the region. However, shortleaf pine genetics are not well-studied, especially in...

  15. Historical and contemporary population genetic connectivity of the European short-snouted seahorse Hippocampus hippocampus and implications for management.

    Science.gov (United States)

    Woodall, L C; Koldewey, H J; Shaw, P W

    2011-06-01

    This first genetic study of Hippocampus hippocampus covers the species' entire geographic range and employs two mtDNA markers (control region and cytochrome b) to establish patterns of population structuring. A total of 255 specimens from 21 locations were used to obtain 89 concatenated haplotypes. The common haplotype was present in all but one population, however, most haplotypes were unique. The haplotype network had a star-like construction, suggesting expansion from a bottleneck event. F(ST) and AMOVA revealed population subdivision into three geographic regions (English Channel + Bay of Biscay, Mediterranean Sea + Atlantic Ocean Iberian coast + Macaronesian Islands, and West Africa) with barriers to gene flow indentified at Cape Finisterre and the Cape Verde frontal zone. Neutrality tests and nested clade analysis suggest a complex demographic history, with both historic events and contemporary processes shaping patterns of genetic differentiation. The genetic population subdivision detected in this study indicates that H. hippocampus should be managed as three separate units. This is especially pertinent as H. hippocampus populations within the West African region are the only ones known to be specifically targeted for exploitation. © 2011 The Authors. Journal of Fish Biology © 2011 The Fisheries Society of the British Isles.

  16. Influence of Concussion History and Genetics on Event-Related Potentials in Athletes: Potential Use in Concussion Management

    Directory of Open Access Journals (Sweden)

    Taylor Guth

    2018-01-01

    Full Text Available Sports-related concussions are an increasing public health issue with much concern about the possible long-term decrements in cognitive function and quality of life that may occur in athletes. The measurement of cognitive function is a common component of concussion management protocols due to cognitive impairments that occur after sustaining a concussion; however, the tools that are often used may not be sensitive enough to expose long term problems with cognitive function. The current paper is a brief review, which suggests that measuring cognitive processing through the use of event related potentials (ERPs may provide a more sensitive assessment of cognitive function, as shown through recent research showing concussion history to influence ERPs components. The potential influence of genetics on cognitive function and ERPs components will also be discussed in relation to future concussion management.

  17. Management of precancerous conditions and lesions in the stomach (MAPS): guideline from the European Society of Gastrointestinal Endoscopy (ESGE), European Helicobacter Study Group (EHSG), European Society of Pathology (ESP), and the Sociedade Portuguesa de Endoscopia Digestiva (SPED)

    Science.gov (United States)

    Dinis-Ribeiro, M.; Areia, M.; de Vries, A. C.; Marcos-Pinto, R.; Monteiro-Soares, M.; O'Connor, A.; Pereira, C.; Pimentel-Nunes, P.; Correia, R.; Ensari, A.; Dumonceau, J. M.; Machado, J. C.; Macedo, G.; Malfertheiner, P.; Matysiak-Budnik, T.; Megraud, F.; Miki, K.; O'Morain, C.; Peek, R. M.; Ponchon, T.; Ristimaki, A.; Rembacken, B.; Carneiro, F.; Kuipers, E. J.

    2012-01-01

    Atrophic gastritis, intestinal metaplasia, and epithelial dysplasia of the stomach are common and are associated with an increased risk for gastric cancer. In the absence of guidelines, there is wide disparity in the management of patients with these premalignant conditions. The European Society of Gastrointestinal Endoscopy (ESGE), the European Helicobacter Study Group (EHSG), the European Society of Pathology (ESP) and the Sociedade Portuguesa de Endoscopia Digestiva (SPED) have therefore combined efforts to develop evidence-based guidelines on the management of patients with precancerous conditions and lesions of the stomach (termed MAPS). A multidisciplinary group of 63 experts from 24 countries developed these recommendations by means of repeat online voting and a meeting in June 2011 in Porto, Portugal. The recommendations emphasize the increased cancer risk in patients with gastric atrophy and metaplasia, and the need for adequate staging in the case of high grade dysplasia, and they focus on treatment and surveillance indications and methods. PMID:22198778

  18. Disrupted sensory gating in pathological gambling.

    Science.gov (United States)

    Stojanov, Wendy; Karayanidis, Frini; Johnston, Patrick; Bailey, Andrew; Carr, Vaughan; Schall, Ulrich

    2003-08-15

    Some neurochemical evidence as well as recent studies on molecular genetics suggest that pathologic gambling may be related to dysregulated dopamine neurotransmission. The current study examined sensory (motor) gating in pathologic gamblers as a putative measure of endogenous brain dopamine activity with prepulse inhibition of the acoustic startle eye-blink response and the auditory P300 event-related potential. Seventeen pathologic gamblers and 21 age- and gender-matched healthy control subjects were assessed. Both prepulse inhibition measures were recorded under passive listening and two-tone prepulse discrimination conditions. Compared to the control group, pathologic gamblers exhibited disrupted sensory (motor) gating on all measures of prepulse inhibition. Sensory motor gating deficits of eye-blink responses were most profound at 120-millisecond prepulse lead intervals in the passive listening task and at 240-millisecond prepulse lead intervals in the two-tone prepulse discrimination task. Sensory gating of P300 was also impaired in pathologic gamblers, particularly at 500-millisecond lead intervals, when performing the discrimination task on the prepulse. In the context of preclinical studies on the disruptive effects of dopamine agonists on prepulse inhibition, our findings suggest increased endogenous brain dopamine activity in pathologic gambling in line with previous neurobiological findings.

  19. Rethinking the Risk Management Process for Genetically Engineered Crop Varieties in Small-scale, Traditionally Based Agriculture

    Directory of Open Access Journals (Sweden)

    David A. Cleveland

    2005-06-01

    Full Text Available Proponents of genetically engineered (GE crops often assume that the risk management used in the industrial world is appropriate for small-scale, traditionally based agriculture in the Third World. Opponents of GE crops often assume that risk management is inappropriate for the Third World, because it is inherently biased in favor of the industrial world. We examine both of these assumptions, by rethinking risk management for GE crops and transgenes, using the example of maize transgene flow from the U.S. to Mexico. Risk management for the Third World is a necessary first step of a broader benefit-cost analysis of GE crops, which would include comparisons with existing varieties and with alternative varieties such as transgenic farmer varieties and organic varieties. Our goal is to use existing information on GE crops and on the social and biological characteristics of Third World agriculture to identify key processes that need to be considered in risk management, and the additional research required to adequately understand them. The four main steps in risk management are hazard identification, risk analysis (exposure x harm, risk evaluation, and risk treatment. We use informal event trees to identify possible exposure to GE crops and transgenes, and resulting biological and social harm; give examples of farmers' ability to evaluate social harm; and discuss the possibilities for risk treatment. We conclude that risk management is relevant for Third World agriculture, but needs to be based on the unique biological and social characteristics of small-scale, traditionally based agriculture, including the knowledge and values of Third World farmers and consumers.

  20. Your Pathology Report

    Science.gov (United States)

    ... Pathology Tests Breast Cancer News February 20, 2013 Star-gazing software helps fight breast cancer See More ... Phone: (855) 807-6386 email Facebook Twitter Instagram YouTube Contact Us Privacy Policy Site Credits Terms of ...

  1. The use of genetics for the management of a recovering population: temporal assessment of migratory peregrine falcons in North America

    Science.gov (United States)

    Johnson, Jeff A.; Talbot, Sandra L.; Sage, George K.; Burnham, Kurt K.; Brown, Joseph W.; Maechtle, Tom L.; Seegar, William S.; Yates, Michael A.; Anderson, Bud; Mindell, David P.

    2010-01-01

    Background:Our ability to monitor populations or species that were once threatened or endangered and in the process of recovery is enhanced by using genetic methods to assess overall population stability and size over time. This can be accomplished most directly by obtaining genetic measures from temporally-spaced samples that reflect the overall stability of the population as given by changes in genetic diversity levels (allelic richness and heterozygosity), degree of population differentiation (FST and DEST), and effective population size (Ne). The primary goal of any recovery effort is to produce a long-term self-sustaining population, and these measures provide a metric by which we can gauge our progress and help make important management decisions. Methodology/Principal Findings:The peregrine falcon in North America (Falco peregrinus tundrius and anatum) was delisted in 1994 and 1999, respectively, and its abundance will be monitored by the species Recovery Team every three years until 2015. Although the United States Fish and Wildlife Service makes a distinction between tundrius and anatum subspecies, our genetic results based on eleven microsatellite loci, including those from Brown et al. (2007), suggest no differentiation and warrant delineation of a subspecies in its northern latitudinal distribution from Alaska through Canada into Greenland. Using temporal samples collected at Padre Island, Texas during migration (seven temporal time periods between 1985-2007), no significant differences in genetic diversity or significant population differentiation in allele frequencies between time periods were observed and were indistinguishable from those obtained from tundrius/anatum breeding locations throughout their northern distribution. Estimates of harmonic mean Ne were variable and imprecise, but always greater than 500 when employing multiple temporal genetic methods. These results, including those from simulations to assess the power of each method to

  2. Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

    Science.gov (United States)

    Sommerville, R Brian; Vincenti, Margherita Guzzi; Winborn, Kathleen; Casey, Anne; Stitziel, Nathan O; Connolly, Anne M; Mann, Douglas L

    2017-01-01

    Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders. Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich ataxia, and Emery-Dreifuss muscular dystrophy), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments. We also advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis.

    Science.gov (United States)

    Donker, Albertine E; Raymakers, Reinier A P; Vlasveld, L Thom; van Barneveld, Teus; Terink, Rieneke; Dors, Natasja; Brons, Paul P T; Knoers, Nine V A M; Swinkels, Dorine W

    2014-06-19

    During recent years, our understanding of the pathogenesis of inherited microcytic anemias has gained from the identification of several genes and proteins involved in systemic and cellular iron metabolism and heme syntheses. Numerous case reports illustrate that the implementation of these novel molecular discoveries in clinical practice has increased our understanding of the presentation, diagnosis, and management of these diseases. Integration of these insights into daily clinical practice will reduce delays in establishing a proper diagnosis, invasive and/or costly diagnostic tests, and unnecessary or even detrimental treatments. To assist the clinician, we developed evidence-based multidisciplinary guidelines on the management of rare microcytic anemias due to genetic disorders of iron metabolism and heme synthesis. These genetic disorders may present at all ages, and therefore these guidelines are relevant for pediatricians as well as clinicians who treat adults. This article summarizes these clinical practice guidelines and includes background on pathogenesis, conclusions, and recommendations and a diagnostic flowchart to facilitate using these guidelines in the clinical setting. © 2014 by The American Society of Hematology.

  4. Genetic structure analysis of a highly inbred captive population of the African antelope Addax nasomaculatus. Conservation and management implications.

    Science.gov (United States)

    Armstrong, E; Leizagoyen, C; Martínez, A M; González, S; Delgado, J V; Postiglioni, A

    2011-01-01

    The African antelope Addax nasomaculatus is a rare mammal at high risk of extinction, with no more than 300 individuals in the wild and 1,700 captive animals distributed in zoos around the world. In this work, we combine genetic data and genealogical information to assess the structure and genetic diversity of a captive population located at Parque Lecocq Zoo (N=27), originated from only two founders. We amplified 39 microsatellites previously described in other Artiodactyls but new to this species. Seventeen markers were polymorphic, with 2-4 alleles per locus (mean=2.71). Mean expected heterozygosity (He) per locus was between 0.050 (marker ETH3) and 0.650 (marker D5S2), with a global He of 0.43. The mean inbreeding coefficient of the population computed from pedigree records of all registered individuals (N=53) was 0.222. The mean coancestry of the population was 0.298 and F(IS) index was -0.108. These results reflect the importance of an adequate breeding management on a severely bottlenecked captive population, which would benefit by the incorporation of unrelated individuals. Thanks to the successful amplification of a large number of microsatellites commonly used in domestic bovids, this study will provide useful information for the management of this population and serve as future reference for similar studies in other captive populations of this species. © 2010 Wiley-Liss, Inc.

  5. Pathology of pulmonary aspergillomas

    OpenAIRE

    Shah Rajeev; Vaideeswar Pradeep; Pandit Shobhana

    2008-01-01

    Aspergilloma refers to a fungal ball formed by saprophytic overgrowth of Aspergillus species and is seen secondary to cavitatory/cystic respiratory diseases. Paucity of clinical and pathological data of aspergilloma in India prompted us to analyze cases of aspergilloma over 15 years. The clinical features were recorded in all and correlated with detailed pathological examination. Aspergillomas were identified in 41 surgical excisions or at autopsy. There was male predominance; half the patien...

  6. How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease

    DEFF Research Database (Denmark)

    Nielsen, Ole Haagen; LaCasse, Eric Charles

    2017-01-01

    infections, such as Epstein-Barr virus (EBV). Children with XIAP-related XLP-2 may present with either familial hemophagocytic lymphohistiocytosis, often triggered in response to EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed...... treatment history and patient morbidity/mortality since its original identification in 2006. Since XLP-2 is rare, cases are probably undergiagnosed or misdiagnosed. Consideration of XLP-2 in children with severe symptoms of IBD can prevent serious morbidities and mortality, avoid unnecessary procedures......, and expedite specific targeted therapy.Genet Med advance online publication 14 July 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.82....

  7. Pathological Jealousy: An Interactive Condition.

    Science.gov (United States)

    Seeman, Mary V

    2016-01-01

    The aim of this review is to describe the psychopathology, antecedents, and current management of pathological jealousy from an interpersonal perspective. The Google Scholar database was searched with the following terms: delusional jealousy; morbid jealousy; paranoid jealousy; pathological jealousy; Othello syndrome; delusional disorder-jealous type; conjugal paranoia. From a total of 600 articles, 40 were selected based on their currency and pertinence to the interpersonal aspects of jealousy. Findings were that delusional jealousy is equally prevalent among men and women, with a greater prevalence in the elderly. Antecedents to this condition can be neurologic, drug related, and/or psychological, most often preceded by low self-esteem and excessive dependence on a romantic partner. Pathological jealousy can be triggered by the behavior of the partner and maintained by reasoning biases and by the psychological benefits that it initially bestows on the relationship. In the long run, however, it poses dangerous risks to the patient, the partner, and the imagined rival so that involuntary hospitalization is sometimes required. Treatment recommendations include couple therapy, a strong cognitive focus, antipsychotic medication, and interventions which enhance self-esteem of both partners and which address the solidarity of the existing relationship. Treatment effectiveness does not yet have a firm evidence base.

  8. A Novel Approach to Managing Invasive Termite Species Using Genetically Engineered Bacteria

    Science.gov (United States)

    2008-08-01

    Coptotcnnes fonnosanus; lytic peptide; defaunation; tennite gut bacteria ; yeast 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF 18. NUMBER 19a. NAME OF...genetically modified bacteria in a termite colony ; no detrimental gene products were expressed for termite control. Preliminary data suggested that lytic...defaunated within 4 weeks. The yeast -based prototype paratransgenesis system provided proof of concept that a symbiotic microorganism can act as a “Trojan

  9. Genetic Engineering and Sustainable Crop Disease Management: Opportunities for Case-by-Case Decision-Making

    Directory of Open Access Journals (Sweden)

    Paul Vincelli

    2016-05-01

    Full Text Available Genetic engineering (GE offers an expanding array of strategies for enhancing disease resistance of crop plants in sustainable ways, including the potential for reduced pesticide usage. Certain GE applications involve transgenesis, in some cases creating a metabolic pathway novel to the GE crop. In other cases, only cisgenessis is employed. In yet other cases, engineered genetic changes can be so minimal as to be indistinguishable from natural mutations. Thus, GE crops vary substantially and should be evaluated for risks, benefits, and social considerations on a case-by-case basis. Deployment of GE traits should be with an eye towards long-term sustainability; several options are discussed. Selected risks and concerns of GE are also considered, along with genome editing, a technology that greatly expands the capacity of molecular biologists to make more precise and targeted genetic edits. While GE is merely a suite of tools to supplement other breeding techniques, if wisely used, certain GE tools and applications can contribute to sustainability goals.

  10. Optimal Energy Management, Location and Size for Stationary Energy Storage System in a Metro Line Based on Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Huan Xia

    2015-10-01

    Full Text Available The installation of stationary super-capacitor energy storage system (ESS in metro systems can recycle the vehicle braking energy and improve the pantograph voltage profile. This paper aims to optimize the energy management, location, and size of stationary super-capacitor ESSes simultaneously and obtain the best economic efficiency and voltage profile of metro systems. Firstly, the simulation platform of an urban rail power supply system, which includes trains and super-capacitor energy storage systems, is established. Then, two evaluation functions from the perspectives of economic efficiency and voltage drop compensation are put forward. Ultimately, a novel optimization method that combines genetic algorithms and a simulation platform of urban rail power supply system is proposed, which can obtain the best energy management strategy, location, and size for ESSes simultaneously. With actual parameters of a Chinese metro line applied in the simulation comparison, certain optimal scheme of ESSes’ energy management strategy, location, and size obtained by a novel optimization method can achieve much better performance of metro systems from the perspectives of two evaluation functions. The simulation result shows that with the increase of weight coefficient, the optimal energy management strategy, locations and size of ESSes appear certain regularities, and the best compromise between economic efficiency and voltage drop compensation can be obtained by a novel optimization method, which can provide a valuable reference to subway company.

  11. Impaired decisional impulsivity in pathological videogamers.

    Directory of Open Access Journals (Sweden)

    Michael A Irvine

    Full Text Available Pathological gaming is an emerging and poorly understood problem. Impulsivity is commonly impaired in disorders of behavioural and substance addiction, hence we sought to systematically investigate the different subtypes of decisional and motor impulsivity in a well-defined pathological gaming cohort.Fifty-two pathological gaming subjects and age-, gender- and IQ-matched healthy volunteers were tested on decisional impulsivity (Information Sampling Task testing reflection impulsivity and delay discounting questionnaire testing impulsive choice, and motor impulsivity (Stop Signal Task testing motor response inhibition, and the premature responding task. We used stringent diagnostic criteria highlighting functional impairment.In the Information Sampling Task, pathological gaming participants sampled less evidence prior to making a decision and scored fewer points compared with healthy volunteers. Gaming severity was also negatively correlated with evidence gathered and positively correlated with sampling error and points acquired. In the delay discounting task, pathological gamers made more impulsive choices, preferring smaller immediate over larger delayed rewards. Pathological gamers made more premature responses related to comorbid nicotine use. Greater number of hours played also correlated with a Motivational Index. Greater frequency of role playing games was associated with impaired motor response inhibition and strategy games with faster Go reaction time.We show that pathological gaming is associated with impaired decisional impulsivity with negative consequences in task performance. Decisional impulsivity may be a potential target in therapeutic management.

  12. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

    Science.gov (United States)

    Cohen, Stephanie A; Leininger, Anna

    2014-01-01

    Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 years, yet the syndrome remains vastly underdiagnosed. It is important for clinicians to recognize individuals and families who are at risk in order to be able to manage them appropriately and reduce their morbidity and mortality from this condition. This review will touch on the history of Lynch syndrome, the current knowledge of genotype–phenotype correlations, the cancers associated with Lynch syndrome, and management of individuals who are gene carriers. PMID:25161364

  13. Recent developments in preclinical toxicological pathology

    International Nuclear Information System (INIS)

    Finch, John M.

    2005-01-01

    In the late nineteenth century, microscopists developed a quaint method for examining the fine structure of biological specimens: paraffin embedding and staining with hematoxylin and eosin. This ancient technology is here to stay for the foreseeable future, because it can and does reveal the truth about biological processes. However, the role of pathology is developing with ever greater worldwide interaction between pathologists, and better communication and agreeing of international standards. Furthermore, recent techniques including immunohistochemistry, electron microscopy and image analysis complement the traditional tried and tested tools. There is also in toxicologic pathology a willingness to use pathology methods and skills in new contexts, drug discovery in particular. But even in these days of genetic modification, proteomics and high throughput screening, pathologists continue to rely on dyes extracted from a Central American logwood used in Mexico before the Spanish invasion in 1520

  14. Pathological gambling in women: a review

    Directory of Open Access Journals (Sweden)

    Martins Silvia Saboia

    2002-01-01

    Full Text Available Pathological gambling was only recently recognized as a psychiatric disorder (DSM-III, APA, 1980. Most studies of pathological gambling include only male subjects. Despite the paucity of information, it is likely that at least one-third of pathological gamblers are women. The objective of this article is to review clinical and epidemiological characteristics of female gamblers as compared to their male counterparts. MEDLINE and PsycINFO were searched for investigational studies and reviews of the past 10 years on clinical (sociodemographic, course and progression, psychiatric comorbidities, genetics, and personality and epidemiological aspects of female gamblers. Other relevant articles were also selected from reference lists. It is concluded that the current literature indicates some common characteristics in female and male gamblers, but it also indicates the possibility that each gender may carry etiopathogenic differences that when better understood should lead to improved treatment and prevention strategies.

  15. Limitations in the Use of Archived Vent Mussel Samples to Assess Genetic Connectivity Among Seafloor Massive Sulfide Deposits: A Case Study with Implications for Environmental Management

    OpenAIRE

    Boschen, Rachel E.; Rowden, Ashley A.; Clark, Malcolm R.; Gardner, Jonathan P. A.

    2015-01-01

    Genetic connectivity studies can inform the design of mitigation strategies used in environmental management. However, the expense of developing species-specific molecular markers and collecting samples at appropriate spatial and temporal scales can be prohibitive. Using archived material and existing molecular markers may provide a cost-effective way to assess population connectivity. Genetic connectivity studies are increasingly in demand in the deep sea in response to mounting anthropogeni...

  16. Types of psychotherapy for pathological gamblers.

    Science.gov (United States)

    Fong, Timothy W

    2005-05-01

    Several types of psychotherapy are currently used to treat pathological gamblers. These include Gambler's Anonymous, cognitive behavioral therapy, behavioral therapy, psychodynamic therapy, and family therapy. Research into which types of psychotherapy are the most effective for pathological gambling is limited but is a growing area of study. Group therapy, namely Gambler's Anonymous, provides peer support and structure. Cognitive behavior therapy aims to identify and correct cognitive distortions about gambling. Psychodynamic psychotherapy can help recovering gamblers address core conflicts and hidden psychological meanings of gambling. Family therapy is helpful by providing support and education and eliminating enabling behaviors. To date, no single type of psychotherapy has emerged as the most effective form of treatment. As in other addictive disorders, treatment retention of pathological gamblers is highly variable. Understanding the types of psychotherapy that are available for pathological gamblers, as well their underlying principles, will assist clinicians in managing this complex behavioral disorder.

  17. PLANT PATHOLOGY: a discipline at a crossroads.

    Science.gov (United States)

    Weinhold, A R

    1996-01-01

    The Department of Plant Pathology at the University of California at Berkeley was destroyed as a consequence of a contentious reorganization. The circumstances that led to the reorganization provide some insight into the challenges facing the discipline of plant pathology. The underlying basis for plant pathology as a science is to address problems of plant disease. This requires a balance between disciplinary and problem-solving research and a continuum from achieving fundamental advances in knowledge to the development and implementation of problem-solving approaches. Changes in colleges and universities have placed extreme stress on this essential structure. The dilemma that must be addressed is how to reestablish the problem-solving continuum where it has been broken and strengthen it where it has been weakened. Plants are essential for life, and they will always be affected by disease. The understanding and management of these diseases is the responsibility and the challenge of plant pathology today and in the future.

  18. Wolves Recolonizing Islands: Genetic Consequences and Implications for Conservation and Management.

    Directory of Open Access Journals (Sweden)

    Liivi Plumer

    Full Text Available After a long and deliberate persecution, the grey wolf (Canis lupus is slowly recolonizing its former areas in Europe, and the genetic consequences of this process are of particular interest. Wolves, though present in mainland Estonia for a long time, have only recently started to recolonize the country's two largest islands, Saaremaa and Hiiumaa. The main objective of this study was to analyse wolf population structure and processes in Estonia, with particular attention to the recolonization of islands. Fifteen microsatellite loci were genotyped for 185 individuals across Estonia. As a methodological novelty, all putative wolf-dog hybrids were identified and removed (n = 17 from the dataset beforehand to avoid interference of dog alleles in wolf population analysis. After the preliminary filtering, our final dataset comprised of 168 "pure" wolves. We recommend using hybrid-removal step as a standard precautionary procedure not only for wolf population studies, but also for other taxa prone to hybridization. STRUCTURE indicated four genetic groups in Estonia. Spatially explicit DResD analysis identified two areas, one of them on Saaremaa island and the other in southwestern Estonia, where neighbouring individuals were genetically more similar than expected from an isolation-by-distance null model. Three blending areas and two contrasting transition zones were identified in central Estonia, where the sampled individuals exhibited strong local differentiation over relatively short distance. Wolves on the largest Estonian islands are part of human-wildlife conflict due to livestock depredation. Negative public attitude, especially on Saaremaa where sheep herding is widespread, poses a significant threat for island wolves. To maintain the long-term viability of the wolf population on Estonian islands, not only wolf hunting quota should be targeted with extreme care, but effective measures should be applied to avoid inbreeding and minimize conflicts

  19. Application of genetic algorithms to in-core nuclear fuel management optimization

    International Nuclear Information System (INIS)

    Poon, P.W.; Parks, G.T.

    1993-01-01

    The search for an optimal arrangement of fresh and burnt fuel and control material within the core of a PWR represents a formidable optimization problem. The approach of combining the robust optimization capabilities of the Simulated Annealing (SA) algorithm with the computational speed of a Generalized Perturbation Theory (GPT) based evaluation methodology in the code FORMOSA has proved to be very effective. In this paper, we show that the incorporation of another stochastic search technique, a Genetic Algorithm, results in comparable optimization performance on serial computers and offers substantially superior performance on parallel machines. (orig.)

  20. [Adolescent pathological gambling].

    Science.gov (United States)

    Petit, A; Karila, L; Lejoyeux, M

    2015-05-01

    Although experts have long thought that the problems of gambling involved only adults, recent studies tend to show that teenagers are also affected. The objective of this paper is to show the characteristics of pathological gambling in adolescents. This review focuses on the clinical features, prevalence, psychopathology, prevention and treatment of this disorder. A review of the medical literature was conducted, using PubMed, using the following keywords alone or combined: pathological gambling, dependence, addiction and adolescents. We selected 12 English articles from 1997 to 2014. Recent work estimate that between 4 and 8% of adolescents suffer from problem gambling, and the prevalence of pathological gambling is 2-4 times higher in adolescents than in adults. The term adolescent pathological gambler starts early around the age of 10-12 years, with a quick change of status from casual to that of problem gambler and player. Complications appear quickly and comorbidities are common. There is no curative pharmacological treatment approved by health authorities. Pathological gambling among adolescents has grown significantly in recent years and should be promptly taken care of. Further studies must be performed to improve our understanding of this problem among adolescents. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  1. Pathologic conditions in pregnancy

    International Nuclear Information System (INIS)

    Beomonte Zobel, B.; Tella, S.; Innacoli, M.; D'Archivio, C.; Cardone, G.; Masciocchi, C.; Gallucci, M.; Passariello, R.; Cappa, F.

    1991-01-01

    Soma authors suggested that MR imaging could rapresent an effective diagnostic alternative in the study of pathologic conditions of mother and fetus during pregnancy. To verify the actual role of MR imaging, we examined 20 patients in the 2nd and 3rd trimester of gestation, after a preliminary US examination. Fifteen patients presented fetal or placental pathologies; in 4 patients the onset of the pathologic condition occurred during pregnancy; in 1 case of US diagnosis of fetal ascites, MR findings were nornal and the newborn was healty. As for placental pathologies, our series included a case of placental cyst, two hematomas between placenta and uterine wall, and two cases of partial placenta previa. As for fetal malformation, we evaluated a case of omphalocele, one of Prune-Belly syndrome, a case of femoral asimmetry, one of thanatophoric dwarfism, a case of thoracopagus twins with cardiovascular abnormalities, two fetal hydrocephali, and three cases of pyelo-ureteral stenosis. As for maternal pathologies during pregnancy, we observed a case of subserous uterine fibromyoma, one of of right hydronephrosis, one of protrusion of lumbar invertebral disk, and a large ovarian cyst. In our experience, MR imaging exhibited high sensitivity and a large field of view, which were both useful in the investigation of the different conditions occurring during pregnancy. In the evaluation of fetal and placental abnormalities, especially during the 3rd trimester, the diagnostic yieldof MR imaging suggested it as a complementary technique to US for the evaluation of fetal malformation and of intrauterine growth retardation

  2. Is active surveillance a safe alternative in the management of localized prostate cancer? Pathological features of radical prostatectomy specimens in potential candidates for active surveillance

    Directory of Open Access Journals (Sweden)

    Zambrano Norman

    2014-04-01

    Full Text Available Introduction and objectiveActive surveillance (AS has become an accepted alternative for patients with low risk prostate cancer. The purpose of AS is to defer definitive therapy in these patients to avoid treatment-related complications. Our aim was to determine the pathological features of the surgical specimen from potential AS candidates that underwent radical prostatectomy (RP.Materials and MethodsWe retrospectively reviewed a group of patients submitted to RP who met criteria for AS: Gleason score (GS ≤ 3+3 = 6, PSA ≤ 10ng/mL, T1c - T2a, 6 in the RPS (GS 7 n = 49; GS 8 n = 3. Extracapsular extension, seminal vesicle and lymph node involvement was found in 6.1%, 3.1% and 1.2% of the specimens, respectively.ConclusionIn this study a significant proportion of potential candidates for AS showed features of aggressive and/or high-risk tumors in the RPS. Therefore, before considering a patient for an AS protocol, a proper and strict selection must be performed, and informed consent is crucial for these patients.

  3. IMPACTOS DA DECISÃO DA SUPREMA CORTE DOS ESTADOS UNIDOS NA PROTEÇÃO DO PATRIMÔNIO GENÉTICO HUMANO: caso Association for Molecular Pathology vs. Myriad Genetics

    OpenAIRE

    Costa, Beatriz Souza; Brito, Nathalia Bastos do Vale

    2016-01-01

     This article examines the United States Supreme Court’s decision that invalidated patents on human genetic material held by Myriad laboratories. It raises the question about the impact of this decision on the protection of the human genetic heritage, considering it as part of the environment, in light of bioethical considerations. The overall goal is the search for the answer to this question using, for that, the deductive-inductive logic and the bibliographic research technique. Through the...

  4. 6q24 transient neonatal diabetes – how to manage while waiting for genetic results

    Directory of Open Access Journals (Sweden)

    Corina Ramona Nicolescu

    2016-11-01

    Full Text Available Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation.This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the 5th day of life hyperglycemia (180 mg/dl was noted and the next day the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide. Insulin infusion, initially intravenously and then subcutaneously was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump.At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain was genetically confirmed (paternal uniparental disomy of chromosome 6.There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features relies on timely clinical updates.

  5. Managing partnerships and impact on decision-making: the example of health technology assessment in genetics.

    Science.gov (United States)

    Blancquaert, Ingeborg

    2006-01-01

    For an emerging field such as Public Health Genetics, the partnerships that will be developed with stakeholders are of strategic importance, since they may affect long-term impact on policy-making. A concrete example in the field of health technology assessment in genetics was chosen to illustrate how the context in which scientific advisory bodies operate and the nature of partnerships developed over time influence the impact on decision-making at different levels, from the micro (professional) level through the meso (institutional) level to the macro (policy) level. As pointed out in the knowledge transfer literature, impact is not only reflected by instrumental use of knowledge, but also by problem-framing and strategic use of knowledge. Solid partnerships at the micro level, with researchers and health care professionals, are essential to build credibility and trust, and they lay the groundwork for contextualized and relevant advice and potential impact at the policy level. Even though maintaining the necessary critical distance with respect to all stakeholders is easier for institutions that are at arm's length from government, achieving the right balance between an institution's independence and service relationship is a real challenge. Copyright (c) 2006 S. Karger AG, Basel.

  6. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  7. Audit in forensic pathology.

    Science.gov (United States)

    Burke, M P; Opeskin, K

    2000-09-01

    Autopsy numbers in Australian hospitals have declined markedly during the past decade despite evidence of a relatively static rate of demonstrable clinical misdiagnosis during this time. The reason for this decrease in autopsy numbers is multifactorial and may include a general lack of clinical and pathologic interest in the autopsy with a possible decline in autopsy standard, a lack of clinicopathologic correlation after autopsies, and an increased emphasis on surgical biopsy reporting within hospital pathology departments. Although forensic autopsies are currently maintaining their numbers, it is incumbent on forensic pathologists to demonstrate the wealth of important information a carefully performed postmortem examination can reveal. To this end, the Pathology Division of the Victorian Institute of Forensic Medicine has instituted a program of minimum standards in varied types of coroner cases and commenced a system of internal and external audit. The minimum standard for a routine, sudden, presumed natural death is presented and the audit system is discussed.

  8. Dairy farms typology and management of animal genetic resources in the peri-urban zone of Bamako (Mali

    Directory of Open Access Journals (Sweden)

    Abdoulaye Toure

    2015-05-01

    Full Text Available Facing growth in demand, dairy production in peri-urban areas of developing countries is changing rapidly. To characterise this development around Bamako (Mali, this study establishes a typology of dairy production systems with a special focus on animal genetic resources. The survey included 52 dairy cattle farms from six peri-urban sites. It was conducted in 2011 through two visits, in the dry and harvest seasons. The median cattle number per farm was 17 (range 5–118 and 42% of farmers owned cropland (8.3± 7.3 ha, minimum 1 ha, maximum 25 ha. Feeding strategy was a crucial variable in farm characterisation, accounting for about 85% of total expenses. The use of artificial insemination and a regular veterinary follow-up were other important parameters. According to breeders’ answers, thirty genetic profiles were identified, from local purebreds to different levels of crossbreds. Purebred animals raised were Fulani Zebu (45.8 %, Maure Zebu (9.2 %, Holstein (3.0 %, Azawak Zebu (1.3 %, Mere Zebu (0.5% and Kuri taurine (0.1 %. Holstein crossbred represented 30.5% of the total number of animals (19.0% Fulani-Holstein, 11.2% Maure-Holstein and 0.3% Kuri-Holstein. Montbéliarde, Normande and Limousin crossbreds were also found (6.6 %, 0.7% and 0.3 %, respectively. A multivariate analysis helped disaggregate the diversity of management practices. The high diversity of situations shows the need for consideration of typological characteristics for an appropriate intervention. Although strongly anchored on local breeds, the peri-urban dairy systems included a diversity of exotic cattle, showing an uncoordinated quest of breeders for innovation. Without a public intervention, this dynamic will result in an irremediable erosion of indigenous animal genetic resources.

  9. BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

    Science.gov (United States)

    Eccles, D. M.; Mitchell, G.; Monteiro, A. N. A.; Schmutzler, R.; Couch, F. J.; Spurdle, A. B.; Gómez-García, E. B.

    2015-01-01

    Background Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of variants of uncertain clinical significance (VUS) is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives. Design Members of the Clinical Working Group of ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity. Results and conclusion Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system, will facilitate reclassification of variants for clinical use. PMID:26153499

  10. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

    Science.gov (United States)

    Eccles, D M; Mitchell, G; Monteiro, A N A; Schmutzler, R; Couch, F J; Spurdle, A B; Gómez-García, E B

    2015-10-01

    Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of variants of uncertain clinical significance (VUS) is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives. Members of the Clinical Working Group of ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity. Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system, will facilitate reclassification of variants for clinical use. © The Author 2015. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  11. Dual Pathology of Mandible.

    Science.gov (United States)

    Rajurkar, Suday G; Deshpande, Mohan D; Kazi, Noaman; Jadhav, Dhanashree; Ranadive, Pallavi; Ingole, Snehal

    2017-01-01

    Aneurysmal Bone cyst (ABC)is a rare benign lesion of the bone which is infrequent in craniofacial region (12%). Rapid growth pattern causing bone expansion and facial asymmetry is a characteristic feature of ABC. Giant cell lesion is another distinct pathological entity. Here we present to you a rare case of dual pathology in an 11 year old female patient who presented with a large expansile lesion in the left hemimandible. All radiographic investigations were suggestive of ABC, aspiration of the lesion resulted in blood aspirate. However only after a histologic examination the dual nature of the lesion was revealed.

  12. Hip joint pathology

    DEFF Research Database (Denmark)

    Tijssen, M; van Cingel, R E H; de Visser, E

    2017-01-01

    The purpose of this retrospective cohort study was to (a) describe the clinical presentation of femoroacetabular impingement (FAI) and hip labral pathology; (b) describe the accuracy of patient history and physical tests for FAI and labral pathology as confirmed by hip arthroscopy. Patients (18......-65 years) were included if they were referred to a physical therapist to gather pre-operative data and were then diagnosed during arthroscopy. Results of pre-operative patient history and physical tests were collected and compared to arthroscopy. Data of 77 active patients (mean age: 37 years) were...

  13. Otosclerosis: Temporal Bone Pathology.

    Science.gov (United States)

    Quesnel, Alicia M; Ishai, Reuven; McKenna, Michael J

    2018-04-01

    Otosclerosis is pathologically characterized by abnormal bony remodeling, which includes bone resorption, new bone deposition, and vascular proliferation in the temporal bone. Sensorineural hearing loss in otosclerosis is associated with extension of otosclerosis to the cochlear endosteum and deposition of collagen throughout the spiral ligament. Persistent or recurrent conductive hearing loss after stapedectomy has been associated with incomplete footplate fenestration, poor incus-prosthesis connection, and incus resorption in temporal bone specimens. Human temporal bone pathology has helped to define the role of computed tomography imaging for otosclerosis, confirming that computed tomography is highly sensitive for diagnosis, yet limited in assessing cochlear endosteal involvement. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Population Genetic Patterns of Threatened European Mudminnow (Umbra krameri Walbaum, 1792 in a Fragmented Landscape: Implications for Conservation Management.

    Directory of Open Access Journals (Sweden)

    Péter Takács

    Full Text Available The European mudminnow (Umbra krameri is a Middle Danubian endemic fish species, which is characterised by isolated populations living mainly in artificial habitats in the centre of its range, in the Carpathian Basin. For their long term preservation, reliable information is needed about the structure of stocks and the level of isolation. The recent distribution pattern, and the population genetic structure within and among regions were investigated to designate the Evolutionary Significant, Conservation and Management Units (ESUs, CUs, MUs and to explore the conservation biological value of the shrinking populations. In total, eight microsatellite loci were studied in 404 specimens originating from eight regions. The results revealed a pronounced population structure, where strictly limited gene flow was detected among regions, as well as various strengths of connections within regions. Following the results of hierarchical structure analyses, two ESUs were supposed in the Carpathian Basin, corresponding to the Danube and Tisza catchments. Our results recommend designating the borders of CUs in an 80-90km range and 16 clusters should be set up as MUs for the 33 investigated populations. How these genetic findings can be used to better allocate conservation resources for the long term maintenance of the metapopulation structure of this threathened endemic fish is discussed.

  15. Energy management of a power-split plug-in hybrid electric vehicle based on genetic algorithm and quadratic programming

    Science.gov (United States)

    Chen, Zheng; Mi, Chris Chunting; Xiong, Rui; Xu, Jun; You, Chenwen

    2014-02-01

    This paper introduces an online and intelligent energy management controller to improve the fuel economy of a power-split plug-in hybrid electric vehicle (PHEV). Based on analytic analysis between fuel-rate and battery current at different driveline power and vehicle speed, quadratic equations are applied to simulate the relationship between battery current and vehicle fuel-rate. The power threshold at which engine is turned on is optimized by genetic algorithm (GA) based on vehicle fuel-rate, battery state of charge (SOC) and driveline power demand. The optimal battery current when the engine is on is calculated using quadratic programming (QP) method. The proposed algorithm can control the battery current effectively, which makes the engine work more efficiently and thus reduce the fuel-consumption. Moreover, the controller is still applicable when the battery is unhealthy. Numerical simulations validated the feasibility of the proposed controller.

  16. MANAGING NEWLY ESTABLISHED PESTS: Cooperative efforts contained spread of Pierce's disease and found genetic resistance

    Directory of Open Access Journals (Sweden)

    George Bruening

    2014-10-01

    Full Text Available An outbreak of Pierce's disease of grapevine in the Temecula Valley in the late 1990s was one in a decades-long series of sporadic appearances of this infection in California. However, the new outbreak was qualitatively different because of the rapidity with which it spread in the vineyard and its appearance almost simultaneously at distant locations. The causative agent of Pierce's disease is the bacterium Xylella fastidiosa, and the distinct characteristics of the Temecula Valley outbreak were traced to the establishment of a new insect vector in California, the glassy-winged sharpshooter. Intensive and collaborative efforts among government agencies, industry and research institutions over 15 years have successfully contained the disease, and given scientists time to discover promising long-term potential solutions through genetic resistance.

  17. Traditional Amerindian cultivators combine directional and ideotypic selection for sustainable management of cassava genetic diversity.

    Science.gov (United States)

    Duputié, A; Massol, F; David, P; Haxaire, C; McKey, D

    2009-06-01

    Plant domestication provides striking examples of rapid evolution. Yet, it involves more complex processes than plain directional selection. Understanding the dynamics of diversity in traditional agroecosystems is both a fundamental goal in evolutionary biology and a practical goal in conservation. We studied how Amerindian cultivators maintain dynamically evolving gene pools in cassava. Farmers purposely maintain diversity in the form of phenotypically distinct, clonally propagated landraces. Landrace gene pools are continuously renewed by incorporating seedlings issued from spontaneous sexual reproduction. This poses two problems: agronomic quality may decrease because some seedlings are inbred, and landrace identity may be progressively lost through the incorporation of unrelated seedlings. Using a large microsatellite dataset, we show that farmers solve these problems by applying two kinds of selection: directional selection against inbred genotypes, and counter-selection of off-type phenotypes, which maintains high intra-landrace relatedness. Thus, cultural elements such as ideotypes (a representation of the ideal phenotype of a landrace) can shape genetic diversity.

  18. A KBE genetic-causal cost modelling methodology for manufacturing cost contingency management

    NARCIS (Netherlands)

    Curran, R.; Gilmour, M.; McAlleean, C.; Kelly, P.

    2009-01-01

    The paper provides validated evidence of a robust methodology for the management of lean manufacturing cost contingency, with a particular focus on contingency regarding recurring work content. A truly concurrent engineering process is established by capturing a range of knowledge from the design,

  19. Effects of Management and Genetics on Udder Health and Milk Composition in Dairy Cows

    NARCIS (Netherlands)

    Ouweltjes, W.; Beerda, B.; Windig, J.J.; Calus, M.P.L.; Veerkamp, R.F.

    2007-01-01

    Milk production per cow has increased significantly as a result of breeding, feeding, and other management factors. This study aims to address concerns about udder health risks for low- and high-producing dairy cows. In a 2 x 2 x 2 factorial design, Holstein-Friesian heifers (n = 100) of low or high

  20. Location and distribution management of relief centers: a genetic algorithm approach

    NARCIS (Netherlands)

    Najafi, M.; Farahani, R.Z.; de Brito, M.; Dullaert, W.E.H.

    2015-01-01

    Humanitarian logistics is regarded as a key area for improved disaster management efficiency and effectiveness. In this study, a multi-objective integrated logistic model is proposed to locate disaster relief centers while taking into account network costs and responsiveness. Because this location

  1. Management of Uncertainty by Statistical Process Control and a Genetic Tuned Fuzzy System

    Directory of Open Access Journals (Sweden)

    Stephan Birle

    2016-01-01

    Full Text Available In food industry, bioprocesses like fermentation often are a crucial part of the manufacturing process and decisive for the final product quality. In general, they are characterized by highly nonlinear dynamics and uncertainties that make it difficult to control these processes by the use of traditional control techniques. In this context, fuzzy logic controllers offer quite a straightforward way to control processes that are affected by nonlinear behavior and uncertain process knowledge. However, in order to maintain process safety and product quality it is necessary to specify the controller performance and to tune the controller parameters. In this work, an approach is presented to establish an intelligent control system for oxidoreductive yeast propagation as a representative process biased by the aforementioned uncertainties. The presented approach is based on statistical process control and fuzzy logic feedback control. As the cognitive uncertainty among different experts about the limits that define the control performance as still acceptable may differ a lot, a data-driven design method is performed. Based upon a historic data pool statistical process corridors are derived for the controller inputs control error and change in control error. This approach follows the hypothesis that if the control performance criteria stay within predefined statistical boundaries, the final process state meets the required quality definition. In order to keep the process on its optimal growth trajectory (model based reference trajectory a fuzzy logic controller is used that alternates the process temperature. Additionally, in order to stay within the process corridors, a genetic algorithm was applied to tune the input and output fuzzy sets of a preliminarily parameterized fuzzy controller. The presented experimental results show that the genetic tuned fuzzy controller is able to keep the process within its allowed limits. The average absolute error to the

  2. Pathological Gambling Subtypes

    Science.gov (United States)

    Vachon, David D.; Bagby, R. Michael

    2009-01-01

    Although pathological gambling (PG) is regarded in the 4th edition of the "Diagnostic and Statistical Manual of Mental Disorders" (American Psychiatric Association, 1994) as a unitary diagnostic construct, it is likely composed of distinct subtypes. In the current report, the authors used cluster analyses of personality traits with a…

  3. TC pathological Neck

    International Nuclear Information System (INIS)

    Garcia Fontes, M.

    2012-01-01

    This presentation is about different imaging techniques such as ultrasound, CT, RNM, PET-CT. These techniques permit to detect head and neck tumors, breast and digestive pathologies as well as congenital diseases and glandular tumor in the thyroid, parathyroid, muscles, lymphatic, nerves and vessels

  4. Next-Generation Pathology.

    Science.gov (United States)

    Caie, Peter D; Harrison, David J

    2016-01-01

    The field of pathology is rapidly transforming from a semiquantitative and empirical science toward a big data discipline. Large data sets from across multiple omics fields may now be extracted from a patient's tissue sample. Tissue is, however, complex, heterogeneous, and prone to artifact. A reductionist view of tissue and disease progression, which does not take this complexity into account, may lead to single biomarkers failing in clinical trials. The integration of standardized multi-omics big data and the retention of valuable information on spatial heterogeneity are imperative to model complex disease mechanisms. Mathematical modeling through systems pathology approaches is the ideal medium to distill the significant information from these large, multi-parametric, and hierarchical data sets. Systems pathology may also predict the dynamical response of disease progression or response to therapy regimens from a static tissue sample. Next-generation pathology will incorporate big data with systems medicine in order to personalize clinical practice for both prognostic and predictive patient care.

  5. Forms of pathologization

    DEFF Research Database (Denmark)

    Brinkmann, Svend

    disorder, and similar figures are found for many other mental disorders. These figures are striking, but are hard to interpret. This presentation argues in favour of the pathologization thesis, which claims that it cannot be argued in a straightforward manner that we are simply more ill and disordered than...

  6. Genome-wide association study of pathological gambling.

    Science.gov (United States)

    Lang, M; Leménager, T; Streit, F; Fauth-Bühler, M; Frank, J; Juraeva, D; Witt, S H; Degenhardt, F; Hofmann, A; Heilmann-Heimbach, S; Kiefer, F; Brors, B; Grabe, H-J; John, U; Bischof, A; Bischof, G; Völker, U; Homuth, G; Beutel, M; Lind, P A; Medland, S E; Slutske, W S; Martin, N G; Völzke, H; Nöthen, M M; Meyer, C; Rumpf, H-J; Wurst, F M; Rietschel, M; Mann, K F

    2016-08-01

    Pathological gambling is a behavioural addiction with negative economic, social, and psychological consequences. Identification of contributing genes and pathways may improve understanding of aetiology and facilitate therapy and prevention. Here, we report the first genome-wide association study of pathological gambling. Our aims were to identify pathways involved in pathological gambling, and examine whether there is a genetic overlap between pathological gambling and alcohol dependence. Four hundred and forty-five individuals with a diagnosis of pathological gambling according to the Diagnostic and Statistical Manual of Mental Disorders were recruited in Germany, and 986 controls were drawn from a German general population sample. A genome-wide association study of pathological gambling comprising single marker, gene-based, and pathway analyses, was performed. Polygenic risk scores were generated using data from a German genome-wide association study of alcohol dependence. No genome-wide significant association with pathological gambling was found for single markers or genes. Pathways for Huntington's disease (P-value=6.63×10(-3)); 5'-adenosine monophosphate-activated protein kinase signalling (P-value=9.57×10(-3)); and apoptosis (P-value=1.75×10(-2)) were significant. Polygenic risk score analysis of the alcohol dependence dataset yielded a one-sided nominal significant P-value in subjects with pathological gambling, irrespective of comorbid alcohol dependence status. The present results accord with previous quantitative formal genetic studies which showed genetic overlap between non-substance- and substance-related addictions. Furthermore, pathway analysis suggests shared pathology between Huntington's disease and pathological gambling. This finding is consistent with previous imaging studies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Determining customer satisfaction in anatomic pathology.

    Science.gov (United States)

    Zarbo, Richard J

    2006-05-01

    Measurement of physicians' and patients' satisfaction with laboratory services has become a standard practice in the United States, prompted by national accreditation requirements. Unlike other surveys of hospital-, outpatient care-, or physician-related activities, no ongoing, comprehensive customer satisfaction survey of anatomic pathology services is available for subscription that would allow continual benchmarking against peer laboratories. Pathologists, therefore, must often design their own local assessment tools to determine physician satisfaction in anatomic pathology. To describe satisfaction survey design that would elicit specific information from physician customers about key elements of anatomic pathology services. The author shares his experience in biannually assessing customer satisfaction in anatomic pathology with survey tools designed at the Henry Ford Hospital, Detroit, Mich. Benchmarks for physician satisfaction, opportunities for improvement, and characteristics that correlated with a high level of physician satisfaction were identified nationally from a standardized survey tool used by 94 laboratories in the 2001 College of American Pathologists Q-Probes quality improvement program. In general, physicians are most satisfied with professional diagnostic services and least satisfied with pathology services related to poor communication. A well-designed and conducted customer satisfaction survey is an opportunity for pathologists to periodically educate physician customers about services offered, manage unrealistic expectations, and understand the evolving needs of the physician customer. Armed with current information from physician customers, the pathologist is better able to strategically plan for resources that facilitate performance improvements in anatomic pathology laboratory services that align with evolving clinical needs in health care delivery.

  8. Routine digital pathology workflow: The Catania experience

    Directory of Open Access Journals (Sweden)

    Filippo Fraggetta

    2017-01-01

    Full Text Available Introduction: Successful implementation of whole slide imaging (WSI for routine clinical practice has been accomplished in only a few pathology laboratories worldwide. We report the transition to an effective and complete digital surgical pathology workflow in the pathology laboratory at Cannizzaro Hospital in Catania, Italy. Methods: All (100% permanent histopathology glass slides were digitized at ×20 using Aperio AT2 scanners. Compatible stain and scanning slide racks were employed to streamline operations. eSlide Manager software was bidirectionally interfaced with the anatomic pathology laboratory information system. Virtual slide trays connected to the two-dimensional (2D barcode tracking system allowed pathologists to confirm that they were correctly assigned slides and that all tissues on these glass slides were scanned. Results: Over 115,000 glass slides were digitized with a scan fail rate of around 1%. Drying glass slides before scanning minimized them sticking to scanner racks. Implementation required introduction of a 2D barcode tracking system and modification of histology workflow processes. Conclusion: Our experience indicates that effective adoption of WSI for primary diagnostic use was more dependent on optimizing preimaging variables and integration with the laboratory information system than on information technology infrastructure and ensuring pathologist buy-in. Implementation of digital pathology for routine practice not only leveraged the benefits of digital imaging but also creates an opportunity for establishing standardization of workflow processes in the pathology laboratory.

  9. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  10. Demand management: an audit of chemical pathology test rejections by an electronic gate-keeping system at an academic hospital in Cape Town.

    Science.gov (United States)

    Smit, Ida; Zemlin, Annalise E; Erasmus, Rajiv T

    2015-07-01

    Demand management is an area of laboratory activity, which is becoming increasingly important. Within the health-care system, demand management can be defined as the use of health resources to maximise its utility. Tygerberg Hospital has introduced an electronic gate-keeping system. Chemistry tests which generate the highest cost are subjected to this system and may be automatically rejected according to a set of rules. This study aimed: (1) to identify the number of chemistry tests rejected by the eGK; (2) to identify which of these rejected tests were subsequently restored and (3) to assess the impact of rejections on clinical outcome and cost-saving. A retrospective audit was conducted to determine the number of chemistry tests rejected and subsequently restored over a 6-month period. The case-notes of patients for whom requested tests previously rejected had been restored were randomly selected and investigated to assess clinical impact. Any cost-saving was calculated. A total of 68,480 tests were subjected to gate-keeping, and 4605 tests (6.7%) were rejected while 679 (14.7%) of these were restored by the requestor phoning the laboratory after obtaining authorisation. After examining a subset of clinical notes it was found that in most cases (80%), patient care was unaffected. The total cost saved was £ 25,387. The majority of the rejected tests were unnecessary and following rejection, real savings were made. Electronic gate-keeping is a simple, effective and sustainable method of demand management. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  11. Eating disorder pathology in elite adolescent athletes.

    Science.gov (United States)

    Giel, Katrin Elisabeth; Hermann-Werner, Anne; Mayer, Jochen; Diehl, Katharina; Schneider, Sven; Thiel, Ansgar; Zipfel, Stephan

    2016-06-01

    We aimed to investigate eating disorder pathology in German elite adolescent athletes. Evidence suggests that eating disorder pathology is more common in adult elite sports, especially in female athletes and in sports emphasizing leanness. There is a scarcity of studies in elite adolescent athletes who are in a vulnerable developmental stage and are affected by general as well as sport-specific risk factors. Our data was derived from the German Young Olympic Athletes' Lifestyle and Health Management Study (GOAL) which conducted a survey in 1138 elite adolescent athletes. In this sample, we assessed body weight, weight control behavior, body acceptance and screened overall for core symptoms of eating disorders, depression and anxiety. We performed a tree analysis to identify high risk groups for eating disorder pathology. High risk groups comprised (a) athletes competing in weight dependent sports, and among athletes competing in disciplines other than weight dependent sports (b) athletes who are high on negative affectivity, (c) female athletes and (d) male athletes competing in endurance, technical or power sports. Athletes competing in weight dependent disciplines reported wide spread use of compensatory behaviors to influence body weight. Athletes reporting eating disorder pathology showed higher levels of depression and anxiety than athletes without eating disorder pathology. Increased psychosocial burden in athletes with eating disorder pathology suggests that eating disorder symptoms should not be accepted as an unproblematic and functional part of elite sports. The prevention and management of eating disorder pathology is especially important in weight dependent sports. © 2016 Wiley Periodicals, Inc. (Int J Eat Disord 2016; 49:553-562). © 2016 Wiley Periodicals, Inc.

  12. Production of marine plant biomass: Management, cultivation, and genetic modification of macrophytic algae

    Science.gov (United States)

    Vandermeer, J. P.

    1982-12-01

    Every second of every day, the Sun's fusion reactions convert thousands of tons of hydrogen into helium with the release of almost unimaginable amounts of energy. Through the photosynthetic activity of plants, both aquatic and terrestrial, a small fraction of this energy is trapped and stored as plant biomass. The oceans cover a greater fraction of the globe than do the land masses, making it appropriate to consider their contribution to the total biomass production, and their potential as a source of raw materials for the extraction of chemicals and fuels. A rather broad synthesis, convering the total seaweed resource and some of the constraints placed on harvesting these plants, attempts to farm the oceans to increase the supply of desirable species, attempts to cultivate seaweeds in enclosures where environmental parameters are controlled, and finally, the limited amount of genetic manipulation that was applied to these plants was presented. Only the larger red and brown seaweeds were considered because they represent the bulk of the biomass.

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of ...

  14. [Concept of occupational pathology service development in Kazakhstan].

    Science.gov (United States)

    Amanbekova, A U; Sakiev, K Z; Dzhakupbekova, G M; Ibrayeva, L K

    2015-01-01

    Improvement of occupational medical care management is aimed to preserve workers' health through better prevention, early diagnosis and rehabilitation of occupational diseases. Strategic directions of occupational pathology service development are improvement of legislation base on occupational diseases, modernization of occupational pathology service, development of personnel resources system, advancement of research activity in medical ecology, industrial hygiene and occupational pathology and increased efficiency of intra-sectoral and inter-agency interactions about workers' health preservation.

  15. Investigating genetic diversity and habitat dynamics in Plantago brutia (Plantaginaceae), implications for the management of narrow endemics in Mediterranean mountain pastures.

    Science.gov (United States)

    De Vita, A; Bernardo, L; Gargano, D; Palermo, A M; Peruzzi, L; Musacchio, A

    2009-11-01

    Many factors have contributed to the richness of narrow endemics in the Mediterranean, including long-lasting human impact on pristine landscapes. The abandonment of traditional land-use practices is causing forest recovery throughout the Mediterranean mountains, by increasing reduction and fragmentation of open habitats. We investigated the population genetic structure and habitat dynamics of Plantago brutia Ten., a narrow endemic in mountain pastures of S Italy. Some plants were cultivated in the botanical garden to explore the species' breeding system. Genetic diversity was evaluated based on inter-simple sequence repeat (ISSR) polymorphisms in 150 individuals from most of known stands. Recent dynamics in the species habitat were checked over a 14-year period. Flower phenology, stigma receptivity and experimental pollinations revealed protogyny and self-incompatibility. With the exception of very small and isolated populations, high genetic diversity was found at the species and population level. amova revealed weak differentiation among populations, and the Mantel test suggested absence of isolation-by-distance. Multivariate analysis of population and genetic data distinguished the populations based on genetic richness, size and isolation. Landscape analyses confirmed recent reduction and isolation of potentially suitable habitats. Low selfing, recent isolation and probable seed exchange may have preserved P. brutia populations from higher loss of genetic diversity. Nonetheless, data related to very small populations suggest that this species may suffer further fragmentation and isolation. To preserve most of the species' genetic richness, future management efforts should consider the large and isolated populations recognised in our analyses.

  16. Genetic structure of brown pelicans (Pelecanus occidentalis in the northern Gulf of Mexico in the context of human management and disturbance.

    Directory of Open Access Journals (Sweden)

    Brock Geary

    Full Text Available Environmental disturbances, both natural and anthropogenic, have the capacity to substantially impact animal behavior and abundance, which can in turn influence patterns of genetic diversity and gene flow. However, little empirical information is available on the nature and degree of such changes due to the relative rarity of longitudinal genetic sampling of wild populations at appropriate intervals. Addressing this knowledge gap is therefore of interest to evolutionary biologists, policy makers, and managers. In the past half century, populations of the brown pelican (Pelecanus occidentalis in the southeastern United States have been exposed to regional extirpations, translocations, colony losses, and oil spills, but potential impacts on genetic diversity and population structure remain unknown. To investigate the cumulative impacts of recent disturbances and management actions, we analyzed seven microsatellite loci using genetic samples collected from 540 nestlings across twelve pelican colonies from two time periods, corresponding to before (n = 305 and after (n = 235 the 2010 Deepwater Horizon oil spill. Pre-2010 populations in Texas were significantly differentiated from Louisiana, Alabama, and Florida populations to the east, with reintroduced populations in southeastern Louisiana having less genetic diversity than sites in Texas, consistent with a recent bottleneck. In contrast, there was no evidence of a geographic component to genetic structure among colonies sampled after the spill, consistent with increased dispersal among sites following the event. This pattern may be associated with reduced philopatry in response to colony abandonment in the areas most heavily impacted by the Deepwater Horizon event, though other factors (e.g., rehabilitation and translocation of oiled birds or colony loss due to erosion and tropical storms were likely also involved. Future monitoring is necessary to determine if bottlenecks and loss of genetic

  17. Organisational Pathologies Under Conditions of Economic Downswing

    Directory of Open Access Journals (Sweden)

    Pasieczny Jacek

    2017-06-01

    Full Text Available The topic of organisational pathology is surprisingly absent in literature on management, especially when bearing in mind the theoretical and practical import of such questions. The intention of the author is to fill in this gap, at least partially. The paper is based on an analysis of literature and an empirical research conducted by the author. The research applied partially structured interviews as its method. These interviews were conducted with entrepreneurs and managers of various levels. They made possible the drawing of conclusions relating to conditions behind the genesis and growth of selected organisational pathologies in a situation of economic downswing. The article briefly presents the concept and influence of pathology on the functioning of an organisation. The author concentrates on the causes of the phenomenon and presents them from various perspectives. It is during times of economic downswing that an increase in unethical behaviour, including corruption, mobbing as well as others, becomes particularly visible. Also noticeable is concentrating on limiting costs, which can sometimes reach pathological scale. This can lead to a permanent loss of pro-development potential by the organisation. Moreover, numerous pathological phenomena emerge at the tangent point of the organisation and its surroundings. The source of many undesirable phenomena in the organisation and in its relations with its surroundings is a fall in trust, which makes its appearance in crisis situations. More often than not, managers facing a situation in which they have no choice perpetuate organisational pathologies, whilst, at the same time, being aware of the lack of validity of their actions. However, a more frequent source of problems is the differences in perspective in perceiving organisational phenomena by various actors and stakeholders.

  18. Trends in Ankle Arthroscopy and Its Use in the Management of Pathologic Conditions of the Lateral Ankle in the United States: A National Database Study.

    Science.gov (United States)

    Werner, Brian C; Burrus, M Tyrrell; Park, Joseph S; Perumal, Venkat; Gwathmey, F Winston

    2015-07-01

    This study aimed to investigate current trends in ankle arthroscopy across time, sex, age, and region of the United States as well as the use of ankle arthroscopy in the management of lateral ankle instability. Patients who underwent ankle arthroscopy and those who underwent ankle arthroscopy and lateral ankle ligament repair or peroneal retinacular repair from 2007 through 2011 were identified using the PearlDiver national database. These searches yielded volumes of unique patients, sex and age distribution, and regional volumes of patients. Χ-square linear-by-linear association analysis was used for comparisons, with P arthroscopy procedures in the database from 2007 to 2011. Over the 5-year study period, there was a significant increase in the overall number of ankle arthroscopies being performed, from 2,814 in 2007 to 3,314 in 2011 (P arthroscopy more frequently than did male patients (P = .027). The majority of patients who had ankle arthroscopy were between the ages of 30 and 49 years. The use of ankle arthroscopy during lateral ligament repair procedures increased from 37.2% in 2007 to 43.7% in 2011 (P arthroscopy and peroneal tendon retinacular repair increased 50%, from 2.8/100 ankle arthroscopies in 2007 to 4.2/100 ankle arthroscopies in 2011 (P arthroscopy increased significantly from 2007 to 2011, outpacing shoulder, knee, and elbow arthroscopy. Ankle arthroscopy was performed more frequently in female patients and most commonly in patients younger than 50 years. The use of ankle arthroscopy in the surgical management of lateral ankle instability also increased significantly. The incidence of concomitant ankle arthroscopy and lateral ligament repair increased significantly, as did the incidence of concomitant ankle arthroscopy and repair of peroneal tendon subluxation. Level IV, therapeutic case series. Copyright © 2015 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

  19. Male breast pathology

    International Nuclear Information System (INIS)

    Puebla, C.; Sainz, J.M.; Pujala, M.; Villavieja, J.L.

    1998-01-01

    To review the specific radiological signs of male breast pathology observed in our center over the past five years, as well as the pertinent medical literature. A retrospective study was carried out of the 47 mammographic studies performed in 41 men. Oblique mediolateral and craniocaudal views were employed. The distribution of different types of male breast pathology among our patients was as follows: gynecomastia was detected in 30 cases (73.1%), pseudogynectomastia in 4 (9.7%), carcinoma in 3(7.3%), abscess in 2 (4.9%), lipoma in 1 (2.5%) and epidermoid cyst in the remaining patient (2.5%). The results obtained agree with those reported in the literature reviewed. The most significant findings were the low incidence of carcinoma and the high rate of gynecomastia. (Author) 26 refs

  20. Pathology of pulmonary aspergillomas.

    Science.gov (United States)

    Shah, Rajeev; Vaideeswar, Pradeep; Pandit, Shobhana P

    2008-01-01

    Aspergilloma refers to a fungal ball formed by saprophytic overgrowth of Aspergillus species and is seen secondary to cavitatory/cystic respiratory diseases. Paucity of clinical and pathological data of aspergilloma in India prompted us to analyze cases of aspergilloma over 15 years. The clinical features were recorded in all and correlated with detailed pathological examination. Aspergillomas were identified in 41 surgical excisions or at autopsy. There was male predominance; half the patients were in their fourth decade. Episodic hemoptysis was the commonest mode of presentation (85.4%). Forty aspergillomas were complex, occurring in cavitatory lesions (82.9%) or in bronchiectasis (14.6%). Simple aspergilloma was seen as an incidental finding in only one. Tuberculosis was the etiological factor in 31 patients, producing cavitatory or bronchiectatic lesions; other causes were chronic lung abscess and bronchiectasis (unrelated to tuberculosis). Surgical resections are endorsed in view of high risk of unpredictable, life-threatening hemoptysis.

  1. Pathology of pulmonary aspergillomas

    Directory of Open Access Journals (Sweden)

    Shah Rajeev

    2008-07-01

    Full Text Available Aspergilloma refers to a fungal ball formed by saprophytic overgrowth of Aspergillus species and is seen secondary to cavitatory/cystic respiratory diseases. Paucity of clinical and pathological data of aspergilloma in India prompted us to analyze cases of aspergilloma over 15 years. The clinical features were recorded in all and correlated with detailed pathological examination. Aspergillomas were identified in 41 surgical excisions or at autopsy. There was male predominance; half the patients were in their fourth decade. Episodic hemoptysis was the commonest mode of presentation (85.4%. Forty aspergillomas were complex, occurring in cavitatory lesions (82.9% or in bronchiectasis (14.6%. Simple aspergilloma was seen as an incidental finding in only one. Tuberculosis was the etiological factor in 31 patients, producing cavitatory or bronchiectatic lesions; other causes were chronic lung abscess and bronchiectasis (unrelated to tuberculosis. Surgical resections are endorsed in view of high risk of unpredictable, life-threatening hemoptysis.

  2. [Pathological gambling: risk factors].

    Science.gov (United States)

    Bouju, G; Grall-Bronnec, M; Landreat-Guillou, M; Venisse, J-L

    2011-09-01

    In France, consumption of gambling games increased by 148% between 1960 and 2005. In 2004, gamblers lost approximately 0.9% of household income, compared to 0.4% in 1960. This represents approximately 134 Euros per year and per head. In spite of this important increase, the level remains lower than the European average (1%). However, gambling practices may continue to escalate in France in the next few years, particularly with the recent announce of the legalisation of online games and sports betting. With the spread of legalised gambling, pathological gambling rates may increase in France in the next years, in response to more widely available and more attractive gambling opportunities. In this context, there is a need for better understanding of the risk factors that are implicated in the development and maintenance of pathological gambling. This paper briefly describes the major risk factors for pathological gambling by examining the recent published literature available during the first quarter of 2008. This documentary basis was collected by Inserm for the collective expert report procedure on Gambling (contexts and addictions). Seventy-two articles focusing on risk factors for pathological gambling were considered in this review. Only 47 of them were taken into account for analysis. The selection of these 47 publications was based on the guide on literature analysis established by the French National Agency for Accreditation and Assessment in Health (ANAES, 2000). Some publications from more recent literature have also been added, mostly about Internet gambling. We identify three major types of risk factors implicated in gambling problems: some of them are related to the subject (individual factors), others are related to the object of the addiction, here the gambling activity by itself (structural factors), and the last are related to environment (contextual or situational factors). Thus, the development and maintenance of pathological gambling seems to be

  3. Molecular pathology of chondroid neoplasms: part 1, benign lesions

    Energy Technology Data Exchange (ETDEWEB)

    Bell, W.C. [University of Alabama at Birmingham, Department of Pathology, Birmingham, AL (United States); University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States); University of Alabama at Birmingham, Department of Diagnostic Radiology, Birmingham, AL (United States); Klein, M.J. [University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States); University of Alabama at Birmingham, Department of Pathology, Birmingham, AL (United States); University of Alabama at Birmingham, Department of Diagnostic Radiology, Birmingham, AL (United States); Pitt, M.J. [University of Alabama at Birmingham, Department of Diagnostic Radiology, Birmingham, AL (United States); University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States); Siegal, G.P. [University of Alabama at Birmingham, Departments of Pathology, Cell Biology, and Surgery, and the Center for Metabolic Bone Disease, Birmingham, AL (United States)

    2006-11-15

    This two-part review presents an overview of the molecular findings associated with both benign and malignant chondroid neoplasms. This first part presents a brief review of methods in molecular pathology along with a review of the cytogenetic and molecular genetic findings in benign chondroid neoplasms. Clinical aspects of the various lesions are briefly discussed, and each tumor is illustrated with representative radiographic and pathologic images. Malignant chondroid neoplasms will be considered in the second part of this review. (orig.)

  4. Molecular pathology of chondroid neoplasms: part 1, benign lesions

    International Nuclear Information System (INIS)

    Bell, W.C.; Klein, M.J.; Pitt, M.J.; Siegal, G.P.

    2006-01-01

    This two-part review presents an overview of the molecular findings associated with both benign and malignant chondroid neoplasms. This first part presents a brief review of methods in molecular pathology along with a review of the cytogenetic and molecular genetic findings in benign chondroid neoplasms. Clinical aspects of the various lesions are briefly discussed, and each tumor is illustrated with representative radiographic and pathologic images. Malignant chondroid neoplasms will be considered in the second part of this review. (orig.)

  5. Management of Surgical Third Lower Molar Extraction and Postoperative Progress in Patients With Factor VII Deficiency: A Clinical Protocol and Focus on This Rare Pathologic Entity.

    Science.gov (United States)

    Passarelli, Pier Carmine; Pasquantonio, Guido; D'Addona, Antonio

    2017-10-01

    The purpose of the present study was to analyze the management of surgical third molar extraction and postoperative progress in patients with a diagnosis of factor VII deficiency. Close collaboration between the oral-maxillofacial surgeon and hematologist will allow the team to categorize the risk and operate safely, thereby minimizing the incidence and severity of intraoperative and postoperative complications. The present retrospective study included 7 patients with factor VII deficiency who had undergone third lower molar surgery. Their factor VII deficiency ranged from 10.5 to 21.0%. Recombinant activated factor VII (rFVIIa) (coagulation factor VIIa [recombinant]; NovoSeven RT; Novo Nordisk, Bagsvaerd, Denmark) was transfused intravenously in a single dose of 25 μg/kg body weight, 30 minutes before surgical extractions. After the surgery, betamethasone, an analgesic, and an ice pack were administered. Pretreatment with recombinant activated factor VII resulted in excellent hemostasis. No hemorrhagic complications and no postoperative major bleeding were observed. The extraction of the third lower molar appears to be a safe procedure for patients with factor VII deficiency when appropriate prophylaxis with rFVIIa is used. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  6. Pathology in Undergraduate Training Program

    Directory of Open Access Journals (Sweden)

    Shiva Raj K.C.

    2018-04-01

    Full Text Available Pathology is a study of disease which deals with etiology, pathogenesis and morphological features and the associated clinical features. Pathology acts as a bridge that fills the gap between basic sciences and clinical medicine. With proper understanding of pathological processes, one can understand the disease process. In Nepal, since the beginning of medical school teaching, Pathology as a basic science discipline and is a component of the preclinical medical school curriculum.Pathology teaching in 19th century was vague, disorganized and very little, though precious. The lectures used to be conducted by surgeons. At Barts, surgeon Sir James Paget had taught surgical pathology. The real revolution in pathology teaching began in the early 1900s when, spurred on by increasing understanding of disease mechanisms, pathology began to be accepted as a specialty in its own right.During the early and mid of 20th century, pathology teaching was a part of clinical teaching with daily, autopsy demonstration. By the late 1980s, significant change had taken place. In many medical schools, debate started regarding relevance of vigorous preclinical teaching. Then system-based approach was incorporated and traditional preclinical course had been abandoned. With this pathology teaching also began to change with pathologists being involved in teaching histology, often alongside pathology to highlight its clinical relevance. In medical schools the pathology teaching time was cut. Autopsy demonstrations, which had been so popular with generations of medical students, were becoming irregular and less well attended.Though teaching of pathology in blocks to ‘avoid fragmentation’ has disappeared in western countries; it is still practice in Nepal. In western countries there was traditional practice of teaching general pathology in the first two years and systemic pathology in the clinical years. Now pathology teaching is integrated throughout the course. A

  7. Intraspecific Variation in Pines from the Trans-Mexican Volcanic Belt Grown under Two Watering Regimes: Implications for Management of Genetic Resources

    Directory of Open Access Journals (Sweden)

    Andrés Flores

    2018-01-01

    Full Text Available Management of forest genetic resources requires experimental data related to the genetic variation of the species and populations under different climatic conditions. Foresters also demand to know how the main selective drivers will influence the adaptability of the genetic resources. To assess the inter- and intraspecific variation and plasticity in seedling drought tolerance at a relevant genetic resource management scale, we tested the changes in growth and biomass allocation of seedlings of Pinus oocarpa, P. patula and P. pseudostrobus under two contrasting watering regimes. We found general significant intraspecific variation and intraspecific differences in plasticity, since both population and watering by population interaction were significant for all three species. All the species and populations share a common general avoidance mechanism (allometric adjustment of shoot/root biomass. However, the intraspecific variation and differences in phenotypic plasticity among populations modify the adaptation strategies of the species to drought. Some of the differences are related to the climatic conditions of the location of origin. We confirmed that even at reduced geographical scales, Mexican pines present differences in the response to water stress. The differences among species and populations are relevant in afforestation programs as well as in genetic conservation activities.

  8. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

    Directory of Open Access Journals (Sweden)

    Swati Tomar

    Full Text Available Retinoblastoma (RB is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59 while only 42.4% (25/59 of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9% of tumors screened. There were 3 cases (5.1% in which no mutations could be detected and germline mutations were detected in 19.5% (8/41 of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59 of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and

  9. Brain pathologies in extreme old age.

    Science.gov (United States)

    Neltner, Janna H; Abner, Erin L; Jicha, Gregory A; Schmitt, Frederick A; Patel, Ela; Poon, Leonard W; Marla, Gearing; Green, Robert C; Davey, Adam; Johnson, Mary Ann; Jazwinski, S Michal; Kim, Sangkyu; Davis, Daron; Woodard, John L; Kryscio, Richard J; Van Eldik, Linda J; Nelson, Peter T

    2016-01-01

    With an emphasis on evolving concepts in the field, we evaluated neuropathologic data from very old research volunteers whose brain autopsies were performed at the University of Kentucky Alzheimer's Disease Center, incorporating data from the Georgia Centenarian Study (n = 49 cases included), Nun Study (n = 17), and University of Kentucky Alzheimer's Disease Center (n = 11) cohorts. Average age of death was 102.0 (range: 98-107) years overall. Alzheimer's disease pathology was not universal (62% with "moderate" or "frequent" neuritic amyloid plaque densities), whereas frontotemporal lobar degeneration was absent. By contrast, some hippocampal neurofibrillary tangles (including primary age-related tauopathy) were observed in every case. Lewy body pathology was seen in 16.9% of subjects and hippocampal sclerosis of aging in 20.8%. We describe anatomic distributions of pigment-laden macrophages, expanded Virchow-Robin spaces, and arteriolosclerosis among Georgia Centenarians. Moderate or severe arteriolosclerosis pathology, throughout the brain, was associated with both hippocampal sclerosis of aging pathology and an ABCC9 gene variant. These results provide fresh insights into the complex cerebral multimorbidity, and a novel genetic risk factor, at the far end of the human aging spectrum. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Future-proofing pathology: the case for clinical adoption of digital pathology.

    Science.gov (United States)

    Williams, Bethany Jill; Bottoms, David; Treanor, Darren

    2017-12-01

    This document clarifies the strategic context of digital pathology adoption, defines the different use cases a healthcare provider may wish to consider as part of a digital adoption and summarises existing reasons for digital adoption and its potential benefits. The reader is provided with references to the relevant literature, and illustrative case studies. The authors hope this report will be of interest to healthcare providers, pathology managers, departmental heads, pathologists and biomedical scientists that are considering digital pathology, deployments or preparing business cases for digital pathology adoption in clinical settings. The information contained in this document can be shared and used in any documentation the reader wishes to present for their own institutional case for adoption report or business case. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  11. Standardization efforts of digital pathology in Europe.

    Science.gov (United States)

    Rojo, Marcial García; Daniel, Christel; Schrader, Thomas

    2012-01-01

    EURO-TELEPATH is a European COST Action IC0604. It started in 2007 and will end in November 2011. Its main objectives are evaluating and validating the common technological framework and communication standards required to access, transmit, and manage digital medical records by pathologists and other medical specialties in a networked environment. Working Group 1, "Business Modelling in Pathology," has designed main pathology processes - Frozen Study, Formalin Fixed Specimen Study, Telepathology, Cytology, and Autopsy - using Business Process Modelling Notation (BPMN). Working Group 2 has been dedicated to promoting the application of informatics standards in pathology, collaborating with Integrating Healthcare Enterprise (IHE), Digital Imaging and Communications in Medicine (DICOM), Health Level Seven (HL7), and other standardization bodies. Health terminology standardization research has become a topic of great interest. Future research work should focus on standardizing automatic image analysis and tissue microarrays imaging.

  12. Molecular pathology of chondroid neoplasms: part 2, malignant lesions

    International Nuclear Information System (INIS)

    Bell, W.C.; Klein, M.J.; Pitt, M.J.; Siegal, G.P.

    2006-01-01

    This is the second part of a two-part review presenting an overview of the molecular findings associated with both benign and malignant chondroid neoplasms. The first part presented a brief review of modern methods in molecular pathology, along with a review of the cytogenetic and molecular genetic findings in benign chondroid neoplasms. This second part reviews the cytogenetic and molecular genetic findings in malignant chondroid neoplasms. Clinical aspects of the various lesions are briefly discussed, and each tumor is illustrated with representative radiographic and pathologic images. (orig.)

  13. Molecular pathology of chondroid neoplasms: part 2, malignant lesions

    Energy Technology Data Exchange (ETDEWEB)

    Bell, W.C. [University of Alabama at Birmingham, Department of Pathology, Birmingham, AL (United States); University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States); Klein, M.J. [University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States); University of Alabama at Birmingham, Department of Pathology, Birmingham, AL (United States); Pitt, M.J. [University of Alabama at Birmingham, Department of Diagnostic Radiology, Birmingham, AL (United States); University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States); Siegal, G.P. [University of Alabama at Birmingham, Departments of Pathology, Cell Biology, and Surgery, Birmingham, AL (United States); University of Alabama at Birmingham, Center for Metabolic Bone Disease, Birmingham, AL (United States)

    2006-12-15

    This is the second part of a two-part review presenting an overview of the molecular findings associated with both benign and malignant chondroid neoplasms. The first part presented a brief review of modern methods in molecular pathology, along with a review of the cytogenetic and molecular genetic findings in benign chondroid neoplasms. This second part reviews the cytogenetic and molecular genetic findings in malignant chondroid neoplasms. Clinical aspects of the various lesions are briefly discussed, and each tumor is illustrated with representative radiographic and pathologic images. (orig.)

  14. Cortical myoclonus and cerebellar pathology

    NARCIS (Netherlands)

    Tijssen, MAJ; Thom, M; Ellison, DW; Wilkins, P; Barnes, D; Thompson, PD; Brown, P

    2000-01-01

    Objective To study the electrophysiologic and pathologic findings in three patients with cortical myoclonus. In two patients the myoclonic ataxic syndrome was associated with proven celiac disease. Background: The pathologic findings in conditions associated with cortical myoclonus commonly involve

  15. Cortical myoclonus and cerebellar pathology

    NARCIS (Netherlands)

    Tijssen, M. A.; Thom, M.; Ellison, D. W.; Wilkins, P.; Barnes, D.; Thompson, P. D.; Brown, P.

    2000-01-01

    OBJECTIVE: To study the electrophysiologic and pathologic findings in three patients with cortical myoclonus. In two patients the myoclonic ataxic syndrome was associated with proven celiac disease. BACKGROUND: The pathologic findings in conditions associated with cortical myoclonus commonly involve

  16. Pathology Gross Photography: The Beginning of Digital Pathology.

    Science.gov (United States)

    Rampy, B Alan; Glassy, Eric F

    2015-06-01

    The underutilized practice of photographing anatomic pathology specimens from surgical pathology and autopsies is an invaluable benefit to patients, clinicians, pathologists, and students. Photographic documentation of clinical specimens is essential for the effective practice of pathology. When considering what specimens to photograph, all grossly evident pathology, absent yet expected pathologic features, and gross-only specimens should be thoroughly documented. Specimen preparation prior to photography includes proper lighting and background, wiping surfaces of blood, removing material such as tubes or bandages, orienting the specimen in a logical fashion, framing the specimen to fill the screen, positioning of probes, and using the right-sized scale. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Genetic Manipulation of Leishmania donovani to Explore the Involvement of Argininosuccinate Synthase in Oxidative Stress Management

    Science.gov (United States)

    Sardar, Abul Hasan; Jardim, Armando; Ghosh, Ayan Kumar; Mandal, Abhishek; Das, Sushmita; Saini, Savita; Abhishek, Kumar; Singh, Ruby; Verma, Sudha; Kumar, Ajay; Das, Pradeep

    2016-01-01

    Reactive oxygen and nitrogen species (ROS and RNS) produced by the phagocytic cells are the most common arsenals used to kill the intracellular pathogens. However, Leishmania, an intracellular pathogen, has evolved mechanisms to survive by counterbalancing the toxic oxygen metabolites produced during infection. Polyamines, the major contributor in this anti-oxidant machinery, are largely dependent on the availability of L-arginine in the intracellular milieu. Argininosuccinate synthase (ASS) plays an important role as the rate-limiting step required for converting L-citrulline to argininosuccinate to provide arginine for an assortment of metabolic processes. Leishmania produce an active ASS enzyme, yet it has an incomplete urea cycle as it lacks an argininosuccinate lyase (ASL). There is no evidence for endogenous synthesis of L-arginine in Leishmania, which suggests that these parasites salvage L-arginine from extracellular milieu and makes the biological function of ASS and the production of argininosuccinate in Leishmania unclear. Our previous quantitative proteomic analysis of Leishmania promastigotes treated with sub-lethal doses of ROS, RNS, or a combination of both, led to the identification of several differentially expressed proteins which included ASS. To assess the involvement of ASS in stress management, a mutant cell line with greatly reduced ASS activity was created by a double-targeted gene replacement strategy in L. donovani promastigote. Interestingly, LdASS is encoded by three copies of allele, but Western blot analysis showed the third allele did not appear to express ASS. The free thiol levels in the mutant LdASS-/-/+ cell line were decreased. Furthermore, the cell viability in L-arginine depleted medium was greatly attenuated on exposure to different stress environments and was adversely impacted in its ability to infect mice. These findings suggest that ASS is important for Leishmania donovani to counterbalance the stressed environments

  18. Genetic Manipulation of Leishmania donovani to Explore the Involvement of Argininosuccinate Synthase in Oxidative Stress Management.

    Directory of Open Access Journals (Sweden)

    Abul Hasan Sardar

    2016-03-01

    Full Text Available Reactive oxygen and nitrogen species (ROS and RNS produced by the phagocytic cells are the most common arsenals used to kill the intracellular pathogens. However, Leishmania, an intracellular pathogen, has evolved mechanisms to survive by counterbalancing the toxic oxygen metabolites produced during infection. Polyamines, the major contributor in this anti-oxidant machinery, are largely dependent on the availability of L-arginine in the intracellular milieu. Argininosuccinate synthase (ASS plays an important role as the rate-limiting step required for converting L-citrulline to argininosuccinate to provide arginine for an assortment of metabolic processes. Leishmania produce an active ASS enzyme, yet it has an incomplete urea cycle as it lacks an argininosuccinate lyase (ASL. There is no evidence for endogenous synthesis of L-arginine in Leishmania, which suggests that these parasites salvage L-arginine from extracellular milieu and makes the biological function of ASS and the production of argininosuccinate in Leishmania unclear. Our previous quantitative proteomic analysis of Leishmania promastigotes treated with sub-lethal doses of ROS, RNS, or a combination of both, led to the identification of several differentially expressed proteins which included ASS. To assess the involvement of ASS in stress management, a mutant cell line with greatly reduced ASS activity was created by a double-targeted gene replacement strategy in L. donovani promastigote. Interestingly, LdASS is encoded by three copies of allele, but Western blot analysis showed the third allele did not appear to express ASS. The free thiol levels in the mutant LdASS-/-/+ cell line were decreased. Furthermore, the cell viability in L-arginine depleted medium was greatly attenuated on exposure to different stress environments and was adversely impacted in its ability to infect mice. These findings suggest that ASS is important for Leishmania donovani to counterbalance the stressed

  19. Genetic differentiation and trade among populations of Peach Palm (Bactris gasipaes Kunth) in the Peruvian Amazon - implications for genetic resource management

    NARCIS (Netherlands)

    Adin, A.; Weber, J.C.; Sotelo Montes, C.; Vidaurre, H.; Vosman, B.J.; Smulders, M.J.M.

    2004-01-01

    Peach palm (Bactris gasipaes Kunth) is cultivated for fruit and 'heart of palm', and is an important component of agroforestry systems in the Peruvian Amazon. In this study, AFLP was used to compare genetic diversity among domesticated populations along the Paranapura and Cuiparillo rivers, which

  20. The nexus between periodontics and oral pathology.

    Science.gov (United States)

    Rich, Alison M; Seo, Benedict; Parachuru, Venkata; Hussaini, Haizal M

    2017-06-01

    A wide variety of lesions may arise from the oral mucosa, fibrous connective tissue, bone and cementum of the periodontium. The commonest pathology occurs as a result of bacterial infection and is very well known to dentists and periodontists, but rarer conditions present as gingival pathology. The pathogenesis of these conditions ranges from genetic to traumatic to immunological to neoplastic, and includes benign, malignant and metastatic lesions. This paper outlines some of these conditions and describes how the periodontist and oral pathologist can work together using a framework, and how with careful consideration of the clinical features and the use of appropriate special tests, including obtaining an adequate tissue specimen, a timely and accurate diagnosis can be obtained. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Neuronal Models for Studying Tau Pathology

    Directory of Open Access Journals (Sweden)

    Thorsten Koechling

    2010-01-01

    Full Text Available Alzheimer's disease (AD is the most frequent neurodegenerative disorder leading to dementia in the aged human population. It is characterized by the presence of two main pathological hallmarks in the brain: senile plaques containing -amyloid peptide and neurofibrillary tangles (NFTs, consisting of fibrillar polymers of abnormally phosphorylated tau protein. Both of these histological characteristics of the disease have been simulated in genetically modified animals, which today include numerous mouse, fish, worm, and fly models of AD. The objective of this review is to present some of the main animal models that exist for reproducing symptoms of the disorder and their advantages and shortcomings as suitable models of the pathological processes. Moreover, we will discuss the results and conclusions which have been drawn from the use of these models so far and their contribution to the development of therapeutic applications for AD.

  2. Toxicologic Pathology: The Basic Building Block of Risk Assessment

    Science.gov (United States)

    Human health risk assessment is a critical factor in many risk management decisions. Evaluation of human health risk requires research the provides information that appropriately characterizes potential hazards from exposure. Pathology endpoints are the central response around ...

  3. [Apoptosis and pathological process].

    Science.gov (United States)

    Rami, Mukhammed Salim Iusef

    2007-01-01

    Apoptosis (programmed cell death) occurs normally for maitenance of tissue homeostasis and play an important role in morphogenesis, embriogenesis and tissue growth. On the other hand, apoptosis may be involved in different pathological processes such as malignancy, infectious diseases and autoimmune disorders. Apoptosis is regulated by various mediators. Caspases, death receptors, mitochondria, Bcl-2 protoncogenes and tumor supressor genes are considered to be the most important of them. Advance in apoptosis regulation research suggests enormouse facilities for therapy of wide range of human illnesses.

  4. Marketing the pathology practice.

    Science.gov (United States)

    Berkowitz, E N

    1995-07-01

    Effective marketing of the pathology practice is essential in the face of an increasingly competitive market. Successful marketing begins with a market-driven planning process. As opposed to the traditional planning process used in health care organizations, a market-driven approach is externally driven. Implementing a market-driven plan also requires recognition of the definition of the service. Each market to which pathologists direct their service defines the service differently. Recognition of these different service definitions and creation of a product to meet these needs could lead to competitive advantages in the marketplace.

  5. Genetic diversity and structure of managed and semi-natural populations of cocoa (Theobroma cacao) in the Huallaga and Ucayali Valleys of Peru.

    Science.gov (United States)

    Zhang, Dapeng; Arevalo-Gardini, Enrique; Mischke, Sue; Zúñiga-Cernades, Luis; Barreto-Chavez, Alejandro; Del Aguila, Jorge Adriazola

    2006-09-01

    Cocoa (Theobroma cacao) is indigenous to the Amazon region of South America, and it is well known that the Peruvian Amazon harbours a large number of diverse cocoa populations. A small fraction of the diversity has been collected and maintained as an ex-situ germplasm repository in Peru. However, incorrect labelling of accessions and lack of information on genetic diversity have hindered efficient conservation and use of this germplasm. This study targeted assessment of genetic diversity and population structure in a managed and a semi-natural population. Using a capillary electrophoresis genotyping system, 105 cocoa accessions collected from the Huallaga and Ucayali valleys of Peru were fingerprinted. Based on 15 loci SSR profiles, genetic identity was examined for each accession and duplicates identified, population structure assessed and genetic diversity analysed in these two populations. Ten synonymous mislabelled groups were identified among the 105 accessions. The germplasm group in the Huallaga valley was clearly separated from the group in Ucayali valley by the Bayesian assignment test. The Huallaga group has lower genetic diversity, both in terms of allelic richness and of gene diversity, than the Ucayali group. Analysis of molecular variance suggested genetic substructure in the Ucayali group. Significant spatial correlation between genetic distance and geographical distances was detected in the Ucayali group by Mantel tests. These results substantiate the hypothesis that the Peruvian Amazon hosts a high level of cocoa genetic diversity, and the diversity has a spatial structure. The introduction of exotic seed populations into the Peruvian Amazon is changing the cocoa germplasm spectrum in this region. The spatial structure of cocoa diversity recorded here highlights the need for additional collecting and conservation measures for natural and semi-natural cocoa populations.

  6. Challenges in Sex- and Gender-Centered Prevention and Management of Cardiovascular Disease: Implications of Genetic, Metabolic, and Environmental Paths.

    Science.gov (United States)

    Kouvari, Matina; Yannakoulia, Mary; Souliotis, Kyriakos; Panagiotakos, Demosthenes B

    2018-01-01

    The recognition of cardiovascular disease (CVD) as a "male" privilege has been a commonly held concept. However, emerging data describe another reality. Heterogeneities have been convincingly demonstrated regarding CVD manifestations, risk factor burden, and prognosis between males and females. The aim of the present narrative review was to highlight sex- and gender-related discrepancies in primary and secondary CVD prevention, underscoring plausible underlying mechanisms. Manifestation of CVD in women is characterized by atypical symptoms/signs and inadequately studied pathophysiology features challenging accurate diagnosis and effective treatment. Regarding CVD risk assessment, the burden and effect size of conventional, novel, and female-specific risk factors needs better clarification. Hitherto outcomes are nonconsistent, while most importantly, the interpretation of the attendant metabolic paths remains a challenge; the interactions among genetic, metabolic, and environmental factors are of high complexity regulated by genomic and nongenomic sex hormones effects. To deal with these key points, the National Institutes of Health currently calls upon investigators to provide a sex- and gender-specific reporting in all health research hypotheses. The implementation of high-quality studies addressing these issues is an imperative need to maximize cost-effectiveness in prevention and management strategies.

  7. Pathology of the vestibulocochlear nerve

    Energy Technology Data Exchange (ETDEWEB)

    De Foer, Bert [Department of Radiology, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: bert.defoer@GZA.be; Kenis, Christoph [Department of Radiology, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: christophkenis@hotmail.com; Van Melkebeke, Deborah [Department of Neurology, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: Deborah.vanmelkebeke@Ugent.be; Vercruysse, Jean-Philippe [University Department of ENT, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: jphver@yahoo.com; Somers, Thomas [University Department of ENT, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: Thomas.somers@GZA.be; Pouillon, Marc [Department of Radiology, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: marc.pouillon@GZA.be; Offeciers, Erwin [University Department of ENT, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium)], E-mail: Erwin.offeciers@GZA.be; Casselman, Jan W. [Department of Radiology, AZ Sint-Jan AV Hospital, Ruddershove 10, Bruges (Belgium); Consultant Radiologist, Sint-Augustinus Hospital, Oosterveldlaan 24, 2610 Wilrijk (Belgium); Academic Consultent, University of Ghent (Belgium)], E-mail: jan.casselman@azbrugge.be

    2010-05-15

    There is a large scala of pathology affecting the vestibulocochlear nerve. Magnetic resonance imaging is the method of choice for the investigation of pathology of the vestibulocochlear nerve. Congenital pathology mainly consists of agenesis or hypoplasia of the vestibulocochlear nerve. Tumoral pathology affecting the vestibulocochlear nerve is most frequently located in the internal auditory canal or cerebellopontine angle. Schwannoma of the vestibulocochlear nerve is the most frequently found tumoral lesion followed by meningeoma, arachnoid cyst and epidermoid cyst. The most frequently encountered pathologies as well as some more rare entities are discussed in this chapter.

  8. Pathology of the vestibulocochlear nerve

    International Nuclear Information System (INIS)

    De Foer, Bert; Kenis, Christoph; Van Melkebeke, Deborah; Vercruysse, Jean-Philippe; Somers, Thomas; Pouillon, Marc; Offeciers, Erwin; Casselman, Jan W.

    2010-01-01

    There is a large scala of pathology affecting the vestibulocochlear nerve. Magnetic resonance imaging is the method of choice for the investigation of pathology of the vestibulocochlear nerve. Congenital pathology mainly consists of agenesis or hypoplasia of the vestibulocochlear nerve. Tumoral pathology affecting the vestibulocochlear nerve is most frequently located in the internal auditory canal or cerebellopontine angle. Schwannoma of the vestibulocochlear nerve is the most frequently found tumoral lesion followed by meningeoma, arachnoid cyst and epidermoid cyst. The most frequently encountered pathologies as well as some more rare entities are discussed in this chapter.

  9. Coronarography in pathologic morphology

    International Nuclear Information System (INIS)

    Rozenberg, V.D.; Nepomnyashchikh, L.M.; Borodin, Yu.I.

    1987-01-01

    Of many years experience of the authors and data in world literature on post mortal coronarography during the most important general pathological processes in heart have been generalized in the monograph. Problems of radioanatomy of coronary artery were considered and data on use of postmortal coronarography in terms of correlation together with selective in-life coronarography are given. Much place takes the description of main coronarography semiotics of obstructive atherosclerosis injuries of the heart coronal system, compensation and decompensation processes of broken coronary circulation. Results of coronarography investigations in geronitogenesis as well as in sudden death are presented. Electrocardiographic-coronarographic and pathomorphologic parallels, clinical-anatomical diagnostical symptomocomplex - syndrom of menocoronary ''robbing'' are elucidated in detail. Technology of different techniques of postmortal coronarography in order to investigate macro-, microhemocirculation heart bed are described in detail as well as techniques of coronarogramm analysis which permits to use the monograph as a manual

  10. Synchronous colonic tumours of dual pathology.

    Science.gov (United States)

    Basu, S; Selvachandran, S N; Cade, D

    2001-05-01

    Synchronous colonic tumours of dual pathology are extremely rare. A review of the literature revealed that few cases have been reported to date. Because of their rarity and lack of specific symptoms, preoperative diagnosis is not easy and there is no protocol as yet for the ideal management of these cases. We present such a case which was treated by a combination of surgery and chemotherapy.

  11. Gynecological pelvic pain as emergency pathology.

    Science.gov (United States)

    Rivera Domínguez, A; Mora Jurado, A; García de la Oliva, A; de Araujo Martins-Romeo, D; Cueto Álvarez, L

    Acute pelvic pain is a common condition in emergency. The sources of acute pelvic pain are multifactorial, so it is important to be familiar with this type of pathologies. The purpose of this article is review the main causes of gynecological acute pelvic pain and their radiologic appearances to be able to make an accurate diagnosis and provide objective criteria for patient management. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Pathological responses to terrorism.

    Science.gov (United States)

    Yehuda, Rachel; Bryant, Richard; Marmar, Charles; Zohar, Joseph

    2005-10-01

    Many important gains have been made in understanding PTSD and other responses to trauma as a result of neuroscience-based observations. Yet there are many gaps in our knowledge that currently impede our ability to predict those who will develop pathologic responses. Such knowledge is essential for developing appropriate strategies for mounting a mental health response in the aftermath of terrorism and for facilitating the recovery of individuals and society. This paper reviews clinical and biological studies that have led to an identification of pathologic responses following psychological trauma, including terrorism, and highlights areas of future-research. It is important to not only determine risk factors for the development of short- and long-term mental health responses to terrorism, but also apply these risk factors to the prediction of such responses on an individual level. It is also critical to consider the full spectrum of responses to terrorism, as well as the interplay between biological and psychological variables that contribute to these responses. Finally, it is essential to remove the barriers to collecting data in the aftermath of trauma by creating a culture of education in which the academic community can communicate to the public what is and is not known so that survivors of trauma and terrorism will understand the value of their participation in research to the generation of useful knowledge, and by maintaining the acquisition of knowledge as a priority for the government and those involved in the immediate delivery of services in the aftermath of large-scale disaster or trauma.

  13. Towards sustainable fishery management for skates in South America: The genetic population structure of Zearaja chilensis and Dipturus trachyderma (Chondrichthyes, Rajiformes in the south-east Pacific Ocean.

    Directory of Open Access Journals (Sweden)

    Carolina Vargas-Caro

    Full Text Available The longnose skates (Zearaja chilensis and Dipturus trachyderma are the main component of the elasmobranch fisheries in the south-east Pacific Ocean. Both species are considered to be a single stock by the fishery management in Chile however, little is known about the level of demographic connectivity within the fishery. In this study, we used a genetic variation (560 bp of the control region of the mitochondrial genome and ten microsatellite loci to explore population connectivity at five locations along the Chilean coast. Analysis of Z. chilensis populations revealed significant genetic structure among off-shore locations (San Antonio, Valdivia, two locations in the Chiloé Interior Sea (Puerto Montt and Aysén and Punta Arenas in southern Chile. For example, mtDNA haplotype diversity was similar across off-shore locations and Punta Arenas (h = 0.46-0.50, it was significantly different to those in the Chiloé Interior Sea (h = 0.08. These results raise concerns about the long-term survival of the species within the interior sea, as population resilience will rely almost exclusively on self-recruitment. In contrast, little evidence of genetic structure was found for D. trachyderma. Our results provide evidence for three management units for Z. chilensis, and we recommend that separate management arrangements are required for each of these units. However, there is no evidence to discriminate the extant population of Dipturus trachyderma as separate management units. The lack of genetic population subdivision for D. trachyderma appears to correspond with their higher dispersal ability and more offshore habitat preference.

  14. Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Priti G. Dalal

    2015-12-01

    Full Text Available A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia. The disease was confirmed and further characterized by genetic testing, which revealed evidence of the presence of two known pathogenic mutations in the SMPD1 gene, and enzyme studies showed a corresponding very low level of enzymatic activity of acidic sphingomyelinase. The anesthetic management involved strategies to manage an anticipated difficult intubation and avoid post-operative ventilation.

  15. Non-genetic risk factors in haemophilia A inhibitor management - the danger theory and the use of animal models.

    Science.gov (United States)

    Lövgren, K M; Søndergaard, H; Skov, S; Wiinberg, B

    2016-09-01

    In haemophilia A (HA) management, antidrug antibodies, or inhibitors, are a serious complication that renders factor VIII (FVIII) replacement therapy ineffective, increases morbidity and reduces quality of life for affected patients. Inhibitor development aetiology is multifactorial and covers both genetic and therapy related risk factors. Many therapy-related risk factors have proven difficult to confirm due to several confounding factors and the small study populations available. However, clinical studies indicate that e.g. on-demand treatment and surgery affect inhibitor development, and explanations for this association are being investigated. A potential explanation is the danger signal effect, where the immune response is activated by endogenous or exogenous danger or damage signals present at the time and site of FVIII administration. The danger theory explains how alarm signals from stressed, injured or dying cells can activate an immune reaction, without the involvement of foreign antigens. Bleeds, trauma, surgery or concomitant infection could be events initiating danger signalling in HA patients, resulting in an immune reaction towards administered FVIII that otherwise would pass unnoticed. This role of danger in HA inhibitor formation has previously been suggested, but a thorough discussion of this subject is lacking. The present review will discuss the potential role of danger signals in haemophilia and inhibitor development, with focus on treatment related risk factors with a suspected danger signal aetiology; on-demand treatment, treatment during major bleeds or surgery, and treatment during infection or vaccination. Clinical studies as well as animal experiments addressing these factors will be reviewed. © 2016 John Wiley & Sons Ltd.

  16. Identification of intra-accession genetic diversity in selfing crops using AFLP markers: implications for collection management

    NARCIS (Netherlands)

    Treuren, van R.; Hintum, van Th.J.L.

    2001-01-01

    Germplasm conserved as seeds in genebanks requires regular regeneration. In this process, selection and genetic drift may cause loss of genetic diversity from accessions. In the case of selfing crops, separation of distinct lines into different accessions may be an efficient strategy to avoid these

  17. Molecular Cloning Designer Simulator (MCDS: All-in-one molecular cloning and genetic engineering design, simulation and management software for complex synthetic biology and metabolic engineering projects

    Directory of Open Access Journals (Sweden)

    Zhenyu Shi

    2016-12-01

    Full Text Available Molecular Cloning Designer Simulator (MCDS is a powerful new all-in-one cloning and genetic engineering design, simulation and management software platform developed for complex synthetic biology and metabolic engineering projects. In addition to standard functions, it has a number of features that are either unique, or are not found in combination in any one software package: (1 it has a novel interactive flow-chart user interface for complex multi-step processes, allowing an integrated overview of the whole project; (2 it can perform a user-defined workflow of cloning steps in a single execution of the software; (3 it can handle multiple types of genetic recombineering, a technique that is rapidly replacing classical cloning for many applications; (4 it includes experimental information to conveniently guide wet lab work; and (5 it can store results and comments to allow the tracking and management of the whole project in one platform. MCDS is freely available from https://mcds.codeplex.com. Keywords: BioCAD, Genetic engineering software, Molecular cloning software, Synthetic biology, Workflow simulation and management

  18. Pitfalls in lung cancer molecular pathology: how to limit them in routine practice?

    Science.gov (United States)

    Ilie, M; Hofman, P

    2012-01-01

    New treatment options in advanced non-small cell lung carcinoma (NSCLC) targeting activating epidermal growth factor receptor (EGFR) gene mutations and other genetic alterations demonstrated the clinical significance of the molecular features of specific subsets of tumors. Therefore, the development of personalized medicine has stimulated the routine integration into pathology departments of somatic mutation testing. However, clinical mutation testing must be optimized and standardized with regard to histological profile, type of samples, pre-analytical steps, methodology and result reporting. Routine molecular testing in NSCLC is currently moving beyond EGFR mutational analysis. Recent progress of targeted therapies will require molecular testing for a wide panel of mutations for a personalized molecular diagnosis. As a consequence, efficient testing of multiple molecular abnormalities is an urgent requirement in thoracic oncology. Moreover, increasingly limited tumor sample becomes a major challenge for molecular pathology. Continuous efforts should be made for safe, effective and specific molecular analyses. This must be based on close collaboration between the departments involved in the management of lung cancer. In this review we explored the practical issues and pitfalls surrounding the routine implementation of molecular testing in NSCLC in a pathology laboratory.

  19. Social cost of pathological gambling.

    Science.gov (United States)

    Ladouceur, R; Boisvert, J M; Pépin, M; Loranger, M; Sylvain, C

    1994-12-01

    Pathological gambling creates enormous problems for the afflicted individuals, their families, employers, and society, and has numerous disastrous financial consequences. The present study evaluates the financial burdens of pathological gambling by questioning pathological gamblers in treatment in Gamblers Anonymous (n=60; 56 males, 4 females; mean age = 40 years old) about personal debts, loss of productivity at work, illegal activities, medical costs and the presence of other dependencies. Results show that important debts, loss of productivity at work and legal problems are associated with pathological gambling. Discussion is formulated in terms of the social cost of adopting a liberal attitude toward the legalization of various gambling activities.

  20. Rotator cuff pathology

    International Nuclear Information System (INIS)

    Pigeau, I.; Doursounian, L.; Maigne, J.Y.; Guinet, C.; Meary, E.; Buy, J.N.; Touzard, R.C.; Vadrot, D.; Laval-Jeantet, M.

    1989-01-01

    Fifteen volunteers and 73 patients with suspected rotator cuff lesions were examined at 0.5 T with T2 * -weighted gradient-echo (GE) MR imaging (700/33/30 degrees) (oblique coronal and sagittal 3 mm thick, surface coil). Results were compared with those of arthrography (all cases), T1-weighted GE imaging (400/20/90 degrees) (35 cases), surgery (28 cases), and T2-weighted spin-echo (SE) images (2,000/60-120) (17 cases). GE images demonstrated all tears (complete, 32, partial, 12) and was superior to arthrography in determining site and size and in displaying muscles (critical point in surgical planning). In 20 cases without tears on arthrography, GE imaging demonstrated five cases of tendinitis, five cases of bursitis, and six probable intratendinous or superficial partial tears. T2 * -weighted GE imaging was superior to T2-weighted SE and T1-weighted GE imaging, with higher fluid contrast and a low fat signal. Therefore, it might replace arthrography in the diagnosis and surgical approach to this pathology

  1. [Meta-analysis of pathological gambling 1997-2007].

    Science.gov (United States)

    Muñoz-Molina, Yaromir

    2008-01-01

    Determining the prevalence of pathological gambling related to variables such as age and sex; furthermore, identifying the most current tools used for measuring it and the kind of gaming associated with this type of obsessive behavior. A meta-analysis of studies concerning pathological gambling published between 1997 and 2007 was carried out. Inclusion criteria for papers consisted of having a probabilistic sample, indicating the tool used for measuring it and presenting the prevalence rate. It was observed that pathological gambling affects men more than women; furthermore, there are differences amongst adults and adolescents related to this type of behaviour, the latter group having the higher prevalence rate. Video lottery terminals are the most frequently occurring type of game associated with pathological gambling. Pathological gambling deserves more attention by public health managers. Prevalence studies help to understand it better.

  2. Population genetic structure of eelgrass (Zostera marina on the Korean coast: Current status and conservation implications for future management.

    Directory of Open Access Journals (Sweden)

    Jae Hwan Kim

    Full Text Available Seagrasses provide numerous ecosystem services for coastal and estuarine environments, such as nursery functions, erosion protection, pollution filtration, and carbon sequestration. Zostera marina (common name "eelgrass" is one of the seagrass bed-forming species distributed widely in the northern hemisphere, including the Korean Peninsula. Recently, however, there has been a drastic decline in the population size of Z. marina worldwide, including Korea. We examined the current population genetic status of this species on the southern coast of Korea by estimating the levels of genetic diversity and genetic structure of 10 geographic populations using eight nuclear microsatellite markers. The level of genetic diversity was found to be significantly lower for populations on Jeju Island [mean allelic richness (AR = 1.92, clonal diversity (R = 0.51], which is located approximately 155 km off the southernmost region of the Korean Peninsula, than for those in the South Sea (mean AR = 2.69, R = 0.82, which is on the southern coast of the mainland. South Korean eelgrass populations were substantially genetically divergent from one another (FST = 0.061-0.573, suggesting that limited contemporary gene flow has been taking place among populations. We also found weak but detectable temporal variation in genetic structure within a site over 10 years. In additional depth comparisons, statistically significant genetic differentiation was observed between shallow (or middle and deep zones in two of three sites tested. Depleted genetic diversity, small effective population sizes (Ne and limited connectivity for populations on Jeju Island indicate that these populations may be vulnerable to local extinction under changing environmental conditions, especially given that Jeju Island is one of the fastest warming regions around the world. Overall, our work will inform conservation and restoration efforts, including transplantation for eelgrass populations at the

  3. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.

    Science.gov (United States)

    Timmerman, Vincent; Clowes, Virginia E; Reid, Evan

    2013-08-01

    In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. The Arctic: Glacial Refugium or Area of Secondary Contact? Inference from the Population Genetic Structure of the Thick-Billed Murre (Uria lomvia), with Implications for Management.

    Science.gov (United States)

    Tigano, Anna; Damus, Martin; Birt, Tim P; Morris-Pocock, Jamie A; Artukhin, Yuri B; Friesen, Vicki L

    2015-01-01

    Quaternary glaciations affected the distribution of many species. Here, we investigate whether the Arctic represented a glacial refugium during the Last Glacial Maximum or an area of secondary contact following the ice retreat, by analyzing the genetic population structure of the thick-billed murre (Uria lomvia), a seabird that breeds throughout the North Atlantic, North Pacific and Arctic Oceans. The thick-billed murre is a species of socio-economic importance and faces numerous threats including hunting, oil pollution, gill netting, and climate change. We compared variation in the mitochondrial DNA (mtDNA) control region (n = 424), supplemented by 4 microsatellite loci (n = 445), among thick-billed murres sampled throughout their range. MtDNA data indicated that colonies comprise 4 genetically differentiated groups (Φst = 0.11-0.81): 1) Atlantic Ocean plus New Siberian Islands region, 2) Cape Parry, 3) Chukchi Sea, and 4) Pacific Ocean. Microsatellite variation differed between Atlantic and Pacific populations. Otherwise, little substructure was found within either ocean. Atlantic and Pacific populations appear to have been genetically isolated since the last interglacial period and should be considered separate evolutionary significant units for management. The Chukchi Sea and Cape Parry appear to represent areas of secondary contact, rather than arctic refugial populations. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  5. FROM PHYSIOLOGICAL TO PATHOLOGICAL METEOSENSITIVITY

    Directory of Open Access Journals (Sweden)

    M. I. Yabluchanskiy

    2013-12-01

    Full Text Available This paper is dedicated to the problem of physiological and pathological meteosensitivity (meteodependency or meteopathy.We introduce and discuss the definition for individual meteodependency, define factors, mechanisms, clinical signs, diagnosis, and approaches to prophylaxy and treatment of individual pathological meteosensitivity.

  6. NMR imaging of osteoarticular pathology

    International Nuclear Information System (INIS)

    Frocrain, L.; Duvauferrier, R.; Gagey, N.

    1987-01-01

    NMR imaging is assuming an increasingly important role in the diagnosis of osteo-articular disorders. Semiological descriptions of the mean pathological disorders of the locomotor system are presented. Some investigation strategies are proposed to compare NMR imaging with other imaging techniques in various pathological states [fr

  7. The Pathology Laboratory Act 2007 explained.

    Science.gov (United States)

    Looi, Lai-Meng

    2008-06-01

    laboratory practices are left to be specified by the Director-General of Health, providing for a formal recognition process and room for revision as pathology practices evolve. Encompassed in the responsibilities of the licensee is the requirement that samples are received and results issued through, and management vested in, a registered medical or dental practitioner. This effectively prohibits "walk-ins" to the laboratory and indiscriminate public screening. The requirement for a person-in-charge in accordance with class and speciality of laboratory ensures that the laboratory is under the charge of the pathology profession. Examined carefully, the requirements of the Act are similar to laboratory accreditation, but are backed by legislation. Many of these details will be spelt out in the Regulations, and these in turn are likely to fall back on National professional guidelines, as accreditation does. Although not at first obvious, enforcement of the Act is based on self-regulation by pathology laboratory professionals. Sincere professional input is thus required to embrace its philosophy, ensure rational and transparent enforcement of legislation, and develop National guidelines for good pathology practices upon which enforcement may be based.

  8. Procedure for implementing the system of quality management in the testing laboratory of the Center for Genetic Engineering and Biotechnology in Sancti Spiritus.

    Directory of Open Access Journals (Sweden)

    Lídice Peraza Cruz

    2014-03-01

    Full Text Available Implementation of Quality Management System in testing laboratories offers the possibility of its accreditation and a frame for cooperation with other organizations, supporting information and experience exchange, as well as standards and procedures harmonization. To improve the performance of the Center for Genetic Engineering and Biotechnology of Sancti Spíritus testing laboratory, assuring technically valid data and results which promote technical competence and credibility of in vitro diagnostics and biological reagents products, a procedure was designed to implement a Quality Management System. This procedure applies Deming´s Quality Cycle and considers all relevant requirements in NC ISO/IEC 17025:2006 “General requirements for the competence of testing and calibration laboratories” and Regulation No. 20 2004 “Good Manufacturing Practices for in vitro Diagnostics” of Center for State Control of Drugs, Equipment and Medical Devices. We recommend an auto evaluation method, designed by authors, to verify quality management system accomplishment.

  9. Fetal MRI of pathological brain development

    International Nuclear Information System (INIS)

    Brugger, P.C.; Prayer, D.

    2006-01-01

    Because of the superior tissue contrast, high spatial resolution, and multiplanar capabilities, fetal magnetic resonance imaging (MRI) can depict fetal brain pathologies with high accuracy. Pathological fetal brain development may result from malformations or acquired conditions. Differentiation of these etiologies is important with respect to managing the actual pregnancy or counseling future pregnancies. As a widened ventricular system is a common hallmark of both maldevelopment and acquired conditions, it may cause problems in the differential diagnosis. Fetal MRI can provide detailed morphological information, which allows refinement of the diagnosis of ventricular enlargement in a large number of cases. Systematic work-up of morphological details that may be recognized on MR images provides an approach for achieving a correct diagnosis in cases of ventricle enlargement. (orig.) [de

  10. Wildfire risk as a socioecological pathology

    Science.gov (United States)

    Fischer, A. Paige; Spies, Thomas A; Steelman, Toddi A; Moseley, Cassandra; Johnson, Bart R.; Bailey, John D.; Ager, Alan A; Bourgeron, Patrick S.; Charnley, Susan; Collins, Brandon M.; Kline, Jeffrey D; Leahy, Jessica E; Littell, Jeremy; Millington, James D. A.; Nielsen-Pincus, Max; Olsen, Christine S; Paveglio, Travis B; Roos, Christopher I.; Steen-Adams, Michelle M; Stevens, Forrest R; Vukomanovic, Jelena; White, Eric M; Bowman, David M J S

    2016-01-01

    Wildfire risk in temperate forests has become a nearly intractable problem that can be characterized as a socioecological “pathology”: that is, a set of complex and problematic interactions among social and ecological systems across multiple spatial and temporal scales. Assessments of wildfire risk could benefit from recognizing and accounting for these interactions in terms of socioecological systems, also known as coupled natural and human systems (CNHS). We characterize the primary social and ecological dimensions of the wildfire risk pathology, paying particular attention to the governance system around wildfire risk, and suggest strategies to mitigate the pathology through innovative planning approaches, analytical tools, and policies. We caution that even with a clear understanding of the problem and possible solutions, the system by which human actors govern fire-prone forests may evolve incrementally in imperfect ways and can be expected to resist change even as we learn better ways to manage CNHS.

  11. Aligning Organizational Pathologies and Organizational Resilience Indicators

    Directory of Open Access Journals (Sweden)

    Manuel Morales Allende

    2017-07-01

    Full Text Available Developing resilient individuals, organizations and communities is a hot topic in the research agenda in Management, Ecology, Psychology or Engineering. Despite the number of works that focus on resilience is increasing, there is not completely agreed definition of resilience, neither an entirely formal and accepted framework. The cause may be the spread of research among different fields. In this paper, we focus on the study of organizational resilience with the aim of improving the level of resilience in organizations. We review the relation between viable and resilient organizations and their common properties. Based on these common properties, we defend the application of the Viable System Model (VSM to design resilient organizations. We also identify the organizational pathologies defined applying the VSM through resilience indicators. We conclude that an organization with any organizational pathology is not likely to be resilient because it does not fulfill the requirements of viable organizations.

  12. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

  13. Pediatric Benign Soft Tissue Oral and Maxillofacial Pathology.

    Science.gov (United States)

    Glickman, Alexandra; Karlis, Vasiliki

    2016-02-01

    Despite the many types of oral pathologic lesions found in infants and children, the most commonly encountered are benign soft tissue lesions. The clinical features, diagnostic criteria, and treatment algorithms of pathologies in the age group from birth to 18 years of age are summarized based on their prevalence in each given age distribution. Treatment modalities include both medical and surgical management. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Pathology and risk assessment

    International Nuclear Information System (INIS)

    Anon.

    1976-01-01

    Programs for providing basic data for use in evaluating the hazard to man from exposure to radiation and other energy-related pollutants are reviewed. A computer program was developed that takes the existing mortality and fertility data on a given population and applies dose-response coefficients and estimated increments of exposure to chemical or radioactive effluents and derives the excess deaths by age and sex for 5-year intervals. The program was used in an analysis of the health effects of airborne coal combustion effluents. Preliminary results are reported from a study of the influence of products of fossil fuel combustion on the spontaneous activity patterns and daily metabolic cycles of mice as a factor of age, environment, and genetic constitution. Preliminary results are reported from studies on the early and late effects of polycyclic hydrocarbons on the immune competence of mice. Studies to determine the risk to human populations from radionuclides released to the environment from nuclear energy facilities use relative toxicity and dose response data from laboratory animals of different body size and life span and comparisons of the effects of internal exposure with those of external exposure to fission neutrons or gamma sources

  15. Genetic Evidence of Hybridization between the Endangered Native Species Iguana delicatissima and the Invasive Iguana iguana (Reptilia, Iguanidae) in the Lesser Antilles: Management Implications.

    Science.gov (United States)

    Vuillaume, Barbara; Valette, Victorien; Lepais, Olivier; Grandjean, Frédéric; Breuil, Michel

    2015-01-01

    The worldwide increase of hybridization in different groups is thought to have become more important with the loss of isolating barriers and the introduction of invasive species. This phenomenon could result in the extinction of endemic species. This study aims at investigating the hybridization dynamics between the endemic and threatened Lesser Antillean iguana (Iguana delicatissima) and the invasive common green iguana (Iguana iguana) in the Lesser Antilles, as well as assessing the impact of interspecific hybridization on the decline of I. delicatissima. 59 I. delicatissima (5 localities), 47 I. iguana (12 localities) and 27 hybrids (5 localities), who were all identified based on morphological characters, have been genotyped at 15 microsatellites markers. We also sequenced hybrids using ND4 mitochondrial loci to further investigate mitochondrial introgression. The genetic clustering of species and hybrid genetic assignment were performed using a comparative approach, through the implementation of a Discriminant Analysis of Principal Component (DAPC) based on statistics, as well as genetic clustering approaches based on the genetic models of several populations (Structure, NewHybrids and HIest), in order to get full characterization of hybridization patterns and introgression dynamics across the islands. The iguanas identified as hybrids in the wild, thanks to morphological analysis, were all genetically F1, F2, or backcrosses. A high proportion of individuals were also the result of a longer-term admixture. The absence of reproductive barriers between species leads to hybridization when species are in contact. Yet morphological and behavioral differences between species could explain why males I. iguana may dominate I. delicatissima, thus resulting in short-term species displacement and extinction by hybridization and recurrent introgression from I. iguana toward I. delicatissima. As a consequence, I. delicatissima gets eliminated through introgression, as

  16. Genetic Evidence of Hybridization between the Endangered Native Species Iguana delicatissima and the Invasive Iguana iguana (Reptilia, Iguanidae) in the Lesser Antilles: Management Implications

    Science.gov (United States)

    Vuillaume, Barbara; Valette, Victorien; Lepais, Olivier; Grandjean, Frédéric; Breuil, Michel

    2015-01-01

    The worldwide increase of hybridization in different groups is thought to have become more important with the loss of isolating barriers and the introduction of invasive species. This phenomenon could result in the extinction of endemic species. This study aims at investigating the hybridization dynamics between the endemic and threatened Lesser Antillean iguana (Iguana delicatissima) and the invasive common green iguana (Iguana iguana) in the Lesser Antilles, as well as assessing the impact of interspecific hybridization on the decline of I. delicatissima. 59 I. delicatissima (5 localities), 47 I. iguana (12 localities) and 27 hybrids (5 localities), who were all identified based on morphological characters, have been genotyped at 15 microsatellites markers. We also sequenced hybrids using ND4 mitochondrial loci to further investigate mitochondrial introgression. The genetic clustering of species and hybrid genetic assignment were performed using a comparative approach, through the implementation of a Discriminant Analysis of Principal Component (DAPC) based on statistics, as well as genetic clustering approaches based on the genetic models of several populations (Structure, NewHybrids and HIest), in order to get full characterization of hybridization patterns and introgression dynamics across the islands. The iguanas identified as hybrids in the wild, thanks to morphological analysis, were all genetically F1, F2, or backcrosses. A high proportion of individuals were also the result of a longer-term admixture. The absence of reproductive barriers between species leads to hybridization when species are in contact. Yet morphological and behavioral differences between species could explain why males I. iguana may dominate I. delicatissima, thus resulting in short-term species displacement and extinction by hybridization and recurrent introgression from I. iguana toward I. delicatissima. As a consequence, I. delicatissima gets eliminated through introgression, as

  17. Genetic Evidence of Hybridization between the Endangered Native Species Iguana delicatissima and the Invasive Iguana iguana (Reptilia, Iguanidae in the Lesser Antilles: Management Implications.

    Directory of Open Access Journals (Sweden)

    Barbara Vuillaume

    Full Text Available The worldwide increase of hybridization in different groups is thought to have become more important with the loss of isolating barriers and the introduction of invasive species. This phenomenon could result in the extinction of endemic species. This study aims at investigating the hybridization dynamics between the endemic and threatened Lesser Antillean iguana (Iguana delicatissima and the invasive common green iguana (Iguana iguana in the Lesser Antilles, as well as assessing the impact of interspecific hybridization on the decline of I. delicatissima. 59 I. delicatissima (5 localities, 47 I. iguana (12 localities and 27 hybrids (5 localities, who were all identified based on morphological characters, have been genotyped at 15 microsatellites markers. We also sequenced hybrids using ND4 mitochondrial loci to further investigate mitochondrial introgression. The genetic clustering of species and hybrid genetic assignment were performed using a comparative approach, through the implementation of a Discriminant Analysis of Principal Component (DAPC based on statistics, as well as genetic clustering approaches based on the genetic models of several populations (Structure, NewHybrids and HIest, in order to get full characterization of hybridization patterns and introgression dynamics across the islands. The iguanas identified as hybrids in the wild, thanks to morphological analysis, were all genetically F1, F2, or backcrosses. A high proportion of individuals were also the result of a longer-term admixture. The absence of reproductive barriers between species leads to hybridization when species are in contact. Yet morphological and behavioral differences between species could explain why males I. iguana may dominate I. delicatissima, thus resulting in short-term species displacement and extinction by hybridization and recurrent introgression from I. iguana toward I. delicatissima. As a consequence, I. delicatissima gets eliminated through

  18. Influence of genetics on tumoral pathologies: The example of the adenocarcinoma arising in Barrett's esophagus Influencia de la genética en la patología tumoral: El ejemplo del adenocarcinoma desarrollado sobre el esófago de Barrett

    Directory of Open Access Journals (Sweden)

    Vincenzo Villanacci

    2012-12-01

    Full Text Available Barrett's esophagus (BE refers to an abnormal change (metaplasia in the cells of the inferior portion of the esophagus. About 10% of patients with symptomatic gastroesophageal reflux disease (GERD have BE. In some cases, BE develops as an advanced stage of erosive esophagitis. The risk of esophageal cancer appears to be increased in patients with BE. The only way to diagnose BE is by endoscopy and histology. Some studies suggest that intensive treatment of Barrett's esophagus with effective acid suppression can reduce the amount of abnormal lining in the esophagus. It is not clear whether such treatment also prevents esophageal cancer. Generally, the cancer starts out as carcinoma of the esophagus on the surface, and then invades the surrounding tissue. Surgery offers the best chance of long-term survival. There are many events that occur in Barrett's esophagus that lead to the development of cancer and most of them appear to occur early, before high-grade dysplasia or cancer develops. No one knows what the late events are and how cells acquire the ability to leave their normal growth boundaries. It is now widely accepted that the development of most cancers is due to something called genomic or genetic instability. The aim of this review is to show BE pathology in its progression to cancer looking for new biomarkers to distinguish between BE-dysplasia (low grade and high grade- adenocarcinoma (ADC and to characterize the ADC, giving more hope for its treatment.

  19. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... was first described in a large, multi-generational German family with more than 100 affected members. Since ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  20. Brain venous pathologies: MRI findings

    International Nuclear Information System (INIS)

    Salvatico, Rosana; Gonzalez, Alejandro; Yanez, Paulina; Romero, Carlos; Trejo, Mariano; Lambre, Hector

    2006-01-01

    Purpose: To describe MRI findings of the different brain venous pathologies. Material and Methods: Between January 2002 and March 2004, 18 patients were studied 10 males and 8 females between 6 and 63 years old; with different brain venous pathologies. In all cases brain MRI were performed including morphological sequences with and without gadolinium injection and angiographic venous sequences. Results: 10 venous occlusions were found, 6 venous angiomas, and 2 presented varices secondary to arteriovenous dural fistula. Conclusion: Brain venous pathologies can appear in many different clinical contexts, with different prognosis and treatment. In all the cases brain MRI was the best imaging study to disclose typical morphologic abnormalities. (author) [es

  1. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    ac.in/article/fulltext/jgen/092/02/0273-0280 ... Department of Genetics and Plant Breeding, Institute of Agricultural Sciences, Banaras Hindu University, Varanas 221 005, India; Department of Mycology and Plant Pathology, Institute of Agricultural ...

  2. Direct costs of microsurgical management of radiosurgically amenable intracranial pathology in Germany: an analysis of meningiomas, acoustic neuromas, metastases and arteriovenous malformations of less than 3 cm in diameter

    International Nuclear Information System (INIS)

    Wellis, G.; Nagel, R.; Vollmar, C.; Steiger, H.-J.

    2003-01-01

    The purpose of the analysis was to appreciate and compare the effective direct costs of microsurgical treatment of intracranial pathology potentially amenable to radiosurgery as they arose in 1998-99. Treatment costs of 127 microsurgically treated patients harboring an arteriovenous malformation (AVM), acoustic neuroma, meningioma or brain metastasis potentially amenable to radiosurgery were reviewed. Costs for the surgical procedure, ICU rare, medical and nursing care on the ward, interclinical bills (ICB) for services provided by other departments and the overhead for basic hotel service were added. For comparison gamma knife costs were calculated by dividing the global operating cost of the gamma knife centre by the number of patients treated in 1999. Average hospitalization time for the entire microsurgical patients was 15.4 + 8.6 days. The patients spent an average of 1.2 ± 2.8 days on ICU. Average operating time for all patients, including preparation, was 393 ± 118 minutes. Average costs for the microsurgical therapy were Eur 10814 ± 6108. These consisted of Eur 1417 ± 426 for the surgical procedure, Eur 1188 ± 2658 for ICU care, Eur 2333 ± 1582 for medical and nursing care on the ward, Eur 1671 ± 1433 for interclinical bills and Eur 4204 ± 2338 for basic hotel service (overhead, Eur 273 per day). 70 % of the microsurgically treated patients needed ancillary inpatient rehabilitation or radiotherapy resulting in an average additional cost for all patients of Eur 2744. Furthermore 20 % of the microsurgically treated patients required an unplanned readmission after discharge, resulting in an average additional costs for all patients of Eur 1684. Average overall costs per patient including ancillary therapy and unplanned read-missions amounted to Eur 15242. For comparison, gamma knife treatment costs per patient amounted to Eur 7920 in 1999. The current analysis showed that for established radiosurgical indications the primary costs of microsurgery

  3. Slot Machine Response Frequency Predicts Pathological Gambling

    DEFF Research Database (Denmark)

    Linnet, Jakob; Rømer Thomsen, Kristine; Møller, Arne

    2013-01-01

    . This study tested the hypothesis that response frequency is associated with symptom severity in pathological gambling. We tested response frequency among twenty-two pathological gambling sufferers and twenty-one non-problem gamblers on a commercially available slot machine, and screened for pathological...... in individuals with exacerbated pathological gambling symptoms. These findings may have important implications for detecting behaviors underlying pathological gambling....

  4. Pathological gambling: an update on neuropathophysiology and pharmacotherapy.

    Science.gov (United States)

    Iancu, Iulian; Lowengrub, Katherine; Dembinsky, Yael; Kotler, Moshe; Dannon, Pinhas N

    2008-01-01

    Neurobiological research has shown the potential involvement of serotonergic, dopaminergic and opioid dysfunction in the pathophysiology of pathological gambling. In this review, we present current theories of the neuropathology of pathological gambling, paying particular attention to the role of the neural circuitry underlying motivation, reward, decision-making and impulsivity. This review also presents a literature review of current pharmacological treatment strategies for pathological gambling, such as selective serotonin reuptake inhibitors (SSRIs), opioid receptor antagonists, anti-addiction drugs and mood stabilizers, and also discusses the role of nonpharmacological interventions.A hypothetical model of the clinical subtypes of pathological gambling is presented, e.g. the impulsive subtype, the obsessive-compulsive subtype and the addictive subtype. This model attempts to integrate current knowledge in the field of pathological gambling regarding neuropathology, psychiatric co-morbidity, family history, genetics, course of illness, gender and response to pharmacological treatment. Finally, it is proposed that the existence of possible clinical subtypes of pathological gambling may provide a potential framework for matching the various subtypes with specific pharmacotherapies.

  5. Systems pathology: a critical review.

    Science.gov (United States)

    Costa, Jose

    2012-02-01

    The technological advances of the last twenty years together with the dramatic increase in computational power have injected new life into systems-level thinking in Medicine. This review emphasizes the close relationship of Systems Pathology to Systems Biology and delineates the differences between Systems Pathology and Clinical Systems Pathology. It also suggests an algorithm to support the application of systems-level thinking to clinical research, proposes applying systems-level thinking to the health care systems and forecasts an acceleration of preventive medicine as a result of the coupling of personal genomics with systems pathology. Copyright © 2011 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

  6. Oral Pathology in Forensic Investigation.

    Science.gov (United States)

    Shamim, Thorakkal

    2018-01-01

    Forensic odontology is the subdiscipline of dentistry which analyses dental evidence in the interest of justice. Oral pathology is the subdiscipline of dentistry that deals with the pathology affecting the oral and maxillofacial regions. This subdiscipline is utilized for identification through oral and maxillofacial pathologies with associated syndromes, enamel rod patterns, sex determination using exfoliative cytology, identification from occlusal morphology of teeth, and deoxyribonucleic acid profiling from teeth. This subdiscipline is also utilized for age estimation studies which include Gustafson's method, incremental lines of Retzius, perikymata, natal line formation in teeth, neonatal line, racemization of collagen in dentin, cemental incremental lines, thickness of the cementum, and translucency of dentin. Even though the expertise of an oral pathologist is not taken in forensic investigations, this paper aims to discuss the role of oral pathology in forensic investigation.

  7. Development of an integrated genome informatics, data management and workflow infrastructure: A toolbox for the study of complex disease genetics

    Directory of Open Access Journals (Sweden)

    Burren Oliver S

    2004-01-01

    Full Text Available Abstract The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integration of databases, genome informatics and genetic analyses in an easily updated and scaleable format. To find genes involved in multifactorial diseases such as type 1 diabetes (T1D, chromosome regions are defined based on functional candidate gene content, linkage information from humans and animal model mapping information. For each region, genomic information is extracted from Ensembl, converted and loaded into ACeDB for manual gene annotation. Homology information is examined using ACeDB tools and the gene structure verified. Manually curated genes are extracted from ACeDB and read into the feature database, which holds relevant local genomic feature data and an audit trail of laboratory investigations. Public domain information, manually curated genes, polymorphisms, primers, linkage and association analyses, with links to our genotyping database, are shown in Gbrowse. This system scales to include genetic, statistical, quality control (QC and biological data such as expression analyses of RNA or protein, all linked from a genomics integrative display. Our system is applicable to any genetic study of complex disease, of either large or small scale.

  8. Hybridization Leads to Loss of Genetic Integrity in Shortleaf Pine: Unexpected Consequences of Pine Management and Fire Suppression

    Science.gov (United States)

    Charles G. Tauer; John F. Stewart; Rodney E. Will; Curtis J. Lilly; James M. Guldin; C. Dana Nelson

    2012-01-01

    Hybridization between shortleaf pine and loblolly pine is causing loss of genetic integrity (the tendency of a population to maintain its genotypes over generations) in shortleaf pine, a species already exhibiting dramatic declines due to land-use changes. Recent findings indicate hybridization has increased in shortleaf pine stands from 3% during the 1950s to 45% for...

  9. The Use of Genetics for the Management of a Recovering Population: Temporal Assessment of Migratory Peregrine Falcons in North America

    Science.gov (United States)

    2010-11-01

    Alaska; Tanana River, Alaska; Porcupine River, Alaska; Yukon, Canada. 5Quebec, Newfoundland, and Labrador, Canada. 6Patagonia, Argentina. 7significant Fis...population decline. Biology Letters 2: 316–319. 102. Halbert ND, Derr JN (2008) Patterns of genetic variation in US federal bison herds . Molecular Ecology 17

  10. Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.

    Science.gov (United States)

    Murugappan, Gayathree; Ohno, Mika S; Lathi, Ruth B

    2015-05-01

    To determine whether in vitro fertilization with preimplantation genetic screening (IVF/PGS) is cost effective compared with expectant management in achieving live birth for patients with unexplained recurrent pregnancy loss (RPL). Decision analytic model comparing costs and clinical outcomes. Academic recurrent pregnancy loss programs. Women with unexplained RPL. IVF/PGS with 24-chromosome screening and expectant management. Cost per live birth. The IVF/PGS strategy had a live-birth rate of 53% and a clinical miscarriage rate of 7%. Expectant management had a live-birth rate of 67% and clinical miscarriage rate of 24%. The IVF/PGS strategy was 100-fold more expensive, costing $45,300 per live birth compared with $418 per live birth with expectant management. In this model, IVF/PGS was not a cost-effective strategy for increasing live birth. Furthermore, the live-birth rate with IVF/PGS needs to be 91% to be cost effective compared with expectant management. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  11. Predicament of Chinese legislation on genetically modified food (GMF) labeling management and solutions - from the perspective of the new food safety law.

    Science.gov (United States)

    Li, Wei; Li, Han

    2017-11-01

    This paper considers the background of Article 69 of the newly revised Food Safety Law in China in combination with the current situation of Chinese legislation on GMF labeling management, compared with a foreign genetically modified food labeling management system, revealing deficiencies in the Chinese legislation with respect to GMF labeling management, and noting that institutions should properly consider the GMF labeling management system in China. China adheres to the principle of mandatory labeling based on both product and processes in relation to GMFs and implements a system of process-centered mandatory labeling under a negotiation-construction form. However, China has not finally defined the supervision mode of mandatory labeling of GMFs through laws, and this remains a challenge for GMF labeling management when two mandatory labeling modes coexist. Since April 2015 and October 1, 2015 when the Food Safety Law was revised and formally implemented respectively, the applicable judicial interpretations and enforcement regulations have not made applicable revisions and only principle-based terms have been included in the Food Safety Law, it is still theoretically and practically difficult for mandatory labeling of GMFs in juridical practices and conflicts between the principle of GMF labeling and the purpose that safeguards consumers' right to know remain. The GMF labeling system should be legislatively and practically improved to an extent that protects consumers' right to know. © 2017 Society of Chemical Industry. © 2017 Society of Chemical Industry.

  12. Stroop performance in pathological gamblers.

    Science.gov (United States)

    Kertzman, Semion; Lowengrub, Katherine; Aizer, Anat; Nahum, Zeev Ben; Kotler, Moshe; Dannon, Pinhas N

    2006-05-30

    Pathological gambling is a relatively prevalent psychiatric disorder that typically leads to severe family, social, legal, and occupational problems and is associated with a high rate of suicide attempts. Understanding the neurobiological basis of pathological gambling is a current focus of research, and emerging data have demonstrated that pathological gamblers may have impaired decision-making because of an inability to inhibit irrelevant information. In this study, we examined pathological gamblers by using the Stroop Color-Word Test, a neurocognitive task used to assess interference control. The "reverse" variant of the Stroop Color-Word Test was administered to a cohort of medication-free pathological gamblers (n=62) and a cohort of age-matched controls (n=83). In the reverse variant of the Stroop task, subjects are asked to read the meaning of the word rather than name the ink color. The reverse Stroop task was chosen because it highly discriminates ability to inhibit interference in a population of psychiatric patients. In our study, performance on the reverse Stroop task in the pathological gamblers was significantly slower and less accurate than in the healthy subjects. A new finding in our study was that for pathological gamblers, the average reaction time in the neutral condition (where the color names are displayed in black letters) was slower than the average reaction time in the incongruent condition (where the meaning of the color name and the color of the printed letters are different). This controlled study extends previous findings by showing that performance on the Stroop task is impaired in a sample of medication-free pathological gamblers.

  13. Profile of the pathological gambler.

    Science.gov (United States)

    Custer, R L

    1984-12-01

    Pathological (compulsive) gambling is a serious emotional and social problem that has existed for centuries but has only recently been recognized as a distinct diagnostic entity that can be effectively treated. The development and progression of pathological gambling are outlined. The progression of the disorder through three identifiable phases leads to predictable complications. The treatment of the gambler within the framework of Gamblers Anonymous and/or by mental health professionals is described.

  14. Late radiation pathology of mammals

    Energy Technology Data Exchange (ETDEWEB)

    Alexandrov, S N

    1982-01-01

    The comprehensive monograph on delayed radiation effects in mammals including man comprises 3 main chapters dealing with non-neoplastic as well as neoplastic manifestations of late radiation pathology, with the prophylaxis of delayed radiation effects, and with the therapy of radiation injuries. Alterations induced by whole-body irradiation and delayed radiation effects caused by partial body irradiation are described in detail. The developmental mechanisms and pathogenesis of non-neoplastic pathological changes and of radiation-induced neoplasms are elaborated.

  15. The preanalytic phase in veterinary clinical pathology.

    Science.gov (United States)

    Braun, Jean-Pierre; Bourgès-Abella, Nathalie; Geffré, Anne; Concordet, Didier; Trumel, Cathy

    2015-03-01

    This article presents the general causes of preanalytic variability with a few examples showing specialists and practitioners that special and improved care should be given to this too often neglected phase. The preanalytic phase of clinical pathology includes all the steps from specimen collection to analysis. It is the phase where most laboratory errors occur in human, and probably also in veterinary clinical pathology. Numerous causes may affect the validity of the results, including technical factors, such as the choice of anticoagulant, the blood vessel sampled, and the duration and conditions of specimen handling. While the latter factors can be defined, influence of biologic and physiologic factors such as feeding and fasting, stress, and biologic and endocrine rhythms can often not be controlled. Nevertheless, as many factors as possible should at least be documented. The importance of the preanalytic phase is often not given the necessary attention, although the validity of the results and consequent clinical decision making and medical management of animal patients would likely be improved if the quality of specimens submitted to the laboratory was optimized. © 2014 American Society for Veterinary Clinical Pathology.

  16. Molecular Pathology of Human Prion Diseases

    Directory of Open Access Journals (Sweden)

    2009-03-01

    Full Text Available Prion diseases are fatal neurodegenerative conditions in humans and animals. In this review, we summarize the molecular background of phenotypic variability, relation of prion protein (PrP to other proteins associated with neurodegenerative diseases, and pathogenesis of neuronal vulnerability. PrP exists in different forms that may be present in both diseased and non-diseased brain, however, abundant disease-associated PrP together with tissue pathology characterizes prion diseases and associates with transmissibility. Prion diseases have different etiological background with distinct pathogenesis and phenotype. Mutations of the prion protein gene are associated with genetic forms. The codon 129 polymorphism in combination with the Western blot pattern of PrP after proteinase K digestion serves as a basis for molecular subtyping of sporadic Creutzfeldt-Jakob disease. Tissue damage may result from several parallel, interacting or subsequent pathways that involve cellular systems associated with synapses, protein processing, oxidative stress, autophagy, and apoptosis.

  17. Precision Medicine in Gastrointestinal Pathology.

    Science.gov (United States)

    Wang, David H; Park, Jason Y

    2016-05-01

    -Precision medicine is the promise of individualized therapy and management of patients based on their personal biology. There are now multiple global initiatives to perform whole-genome sequencing on millions of individuals. In the United States, an early program was the Million Veteran Program, and a more recent proposal in 2015 by the president of the United States is the Precision Medicine Initiative. To implement precision medicine in routine oncology care, genetic variants present in tumors need to be matched with effective clinical therapeutics. When we focus on the current state of precision medicine for gastrointestinal malignancies, it becomes apparent that there is a mixed history of success and failure. -To present the current state of precision medicine using gastrointestinal oncology as a model. We will present currently available targeted therapeutics, promising new findings in clinical genomic oncology, remaining quality issues in genomic testing, and emerging oncology clinical trial designs. -Review of the literature including clinical genomic studies on gastrointestinal malignancies, clinical oncology trials on therapeutics targeted to molecular alterations, and emerging clinical oncology study designs. -Translating our ability to sequence thousands of genes into meaningful improvements in patient survival will be the challenge for the next decade.

  18. Tau pathology in Creutzfeldt-Jakob disease revisited.

    Science.gov (United States)

    Kovacs, Gabor G; Rahimi, Jasmin; Ströbel, Thomas; Lutz, Mirjam I; Regelsberger, Günther; Streichenberger, Nathalie; Perret-Liaudet, Armand; Höftberger, Romana; Liberski, Pawel P; Budka, Herbert; Sikorska, Beata

    2017-05-01

    Creutzfeldt-Jakob disease (CJD) is a human prion disease with different etiologies. To determine the spectrum of tau pathologies in CJD, we assessed phospho-Tau (pTau) immunoreactivities in 75 sporadic CJD cases including an evaluation of the entorhinal cortex and six hippocampal subregions. Twelve cases (16%) showed only small tau-immunoreactive neuritic profiles. Fifty-two (69.3%) showed additional tau pathology in the medial temporal lobe compatible with primary age related tauopathy (PART). In 22/52 cases the lower pTau immunoreactivity load in the entorhinal cortex as compared to subiculum, dentate gyrus or CA4 region of the hippocampus was significantly different from the typical distribution of the Braak staging. A further 11 cases (14.7%) showed widespread tau pathologies compatible with features of primary tauopathies or the gray matter type of ageing-related tau astrogliopathy (ARTAG). Prominent gray matter ARTAG was also observed in two out of three additionally examined V203I genetic CJD cases. Analysis of cerebrospinal fluid revealed prominent increase of total tau protein in cases with widespread tau pathology, while pTau (T181) level was increased only in four. This correlated with immunohistochemical observations showing less pathology with anti-pTau T181 antibody when compared to anti-pTau S202/T205, T212/S214 and T231. The frequency of tau pathologies is not unusually high in sporadic CJD and does not precisely relate to PrP deposition. However, the pattern of hippocampal tau pathology often deviates from the stages of Braak. Currently applied examination of cerebrospinal fluid pTau (T181) level does not reliably reflect primary tauopathies, PART and ARTAG seen in CJD brains. © 2016 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.

  19. Specific Genetic Disorders

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  20. Standards to support information systems integration in anatomic pathology.

    Science.gov (United States)

    Daniel, Christel; García Rojo, Marcial; Bourquard, Karima; Henin, Dominique; Schrader, Thomas; Della Mea, Vincenzo; Gilbertson, John; Beckwith, Bruce A

    2009-11-01

    Integrating anatomic pathology information- text and images-into electronic health care records is a key challenge for enhancing clinical information exchange between anatomic pathologists and clinicians. The aim of the Integrating the Healthcare Enterprise (IHE) international initiative is precisely to ensure interoperability of clinical information systems by using existing widespread industry standards such as Digital Imaging and Communication in Medicine (DICOM) and Health Level Seven (HL7). To define standard-based informatics transactions to integrate anatomic pathology information to the Healthcare Enterprise. We used the methodology of the IHE initiative. Working groups from IHE, HL7, and DICOM, with special interest in anatomic pathology, defined consensual technical solutions to provide end-users with improved access to consistent information across multiple information systems. The IHE anatomic pathology technical framework describes a first integration profile, "Anatomic Pathology Workflow," dedicated to the diagnostic process including basic image acquisition and reporting solutions. This integration profile relies on 10 transactions based on HL7 or DICOM standards. A common specimen model was defined to consistently identify and describe specimens in both HL7 and DICOM transactions. The IHE anatomic pathology working group has defined standard-based informatics transactions to support the basic diagnostic workflow in anatomic pathology laboratories. In further stages, the technical framework will be completed to manage whole-slide images and semantically rich structured reports in the diagnostic workflow and to integrate systems used for patient care and those used for research activities (such as tissue bank databases or tissue microarrayers).

  1. Genetic differentiation among Maruca vitrata F. (Lepidoptera: Crambidae populations on cultivated cowpea and wild host plants: implications for insect resistance management and biological control strategies.

    Directory of Open Access Journals (Sweden)

    Tolulope A Agunbiade

    Full Text Available Maruca vitrata Fabricius (Lepidoptera: Crambidae is a polyphagous insect pest that feeds on a variety of leguminous plants in the tropics and subtropics. The contribution of host-associated genetic variation on population structure was investigated using analysis of mitochondrial cytochrome oxidase 1 (cox1 sequence and microsatellite marker data from M. vitrata collected from cultivated cowpea (Vigna unguiculata L. Walp., and alternative host plants Pueraria phaseoloides (Roxb. Benth. var. javanica (Benth. Baker, Loncocarpus sericeus (Poir, and Tephrosia candida (Roxb.. Analyses of microsatellite data revealed a significant global FST estimate of 0.05 (P≤0.001. The program STRUCTURE estimated 2 genotypic clusters (co-ancestries on the four host plants across 3 geographic locations, but little geographic variation was predicted among genotypes from different geographic locations using analysis of molecular variance (AMOVA; among group variation -0.68% or F-statistics (FSTLoc = -0.01; P = 0.62. These results were corroborated by mitochondrial haplotype data (φSTLoc = 0.05; P = 0.92. In contrast, genotypes obtained from different host plants showed low but significant levels of genetic variation (FSTHost = 0.04; P = 0.01, which accounted for 4.08% of the total genetic variation, but was not congruent with mitochondrial haplotype analyses (φSTHost = 0.06; P = 0.27. Variation among host plants at a location and host plants among locations showed no consistent evidence for M. vitrata population subdivision. These results suggest that host plants do not significantly influence the genetic structure of M. vitrata, and this has implications for biocontrol agent releases as well as insecticide resistance management (IRM for M. vitrata in West Africa.

  2. Molecular Cloning Designer Simulator (MCDS): All-in-one molecular cloning and genetic engineering design, simulation and management software for complex synthetic biology and metabolic engineering projects.

    Science.gov (United States)

    Shi, Zhenyu; Vickers, Claudia E

    2016-12-01

    Molecular Cloning Designer Simulator (MCDS) is a powerful new all-in-one cloning and genetic engineering design, simulation and management software platform developed for complex synthetic biology and metabolic engineering projects. In addition to standard functions, it has a number of features that are either unique, or are not found in combination in any one software package: (1) it has a novel interactive flow-chart user interface for complex multi-step processes, allowing an integrated overview of the whole project; (2) it can perform a user-defined workflow of cloning steps in a single execution of the software; (3) it can handle multiple types of genetic recombineering, a technique that is rapidly replacing classical cloning for many applications; (4) it includes experimental information to conveniently guide wet lab work; and (5) it can store results and comments to allow the tracking and management of the whole project in one platform. MCDS is freely available from https://mcds.codeplex.com.

  3. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  4. Genetic Factors Involved in Fumonisin Accumulation in Maize Kernels and Their Implications in Maize Agronomic Management and Breeding.

    Science.gov (United States)

    Santiago, Rogelio; Cao, Ana; Butrón, Ana

    2015-08-20

    Contamination of maize with fumonisins depends on the environmental conditions; the maize resistance to contamination and the interaction between both factors. Although the effect of environmental factors is a determinant for establishing the risk of kernel contamination in a region, there is sufficient genetic variability among maize to develop resistance to fumonisin contamination and to breed varieties with contamination at safe levels. In addition, ascertaining which environmental factors are the most important in a region will allow the implementation of risk monitoring programs and suitable cultural practices to reduce the impact of such environmental variables. The current paper reviews all works done to address the influence of environmental variables on fumonisin accumulation, the genetics of maize resistance to fumonisin accumulation, and the search for the biochemical and/or structural mechanisms of the maize plant that could be involved in resistance to fumonisin contamination. We also explore the outcomes of breeding programs and risk monitoring of undertaken projects.

  5. Managing sensitive phenotypic data and biomaterial in large-scale collaborative psychiatric genetic research projects: practical considerations.

    Science.gov (United States)

    Demiroglu, S Y; Skrowny, D; Quade, M; Schwanke, J; Budde, M; Gullatz, V; Reich-Erkelenz, D; Jakob, J J; Falkai, P; Rienhoff, O; Helbing, K; Heilbronner, U; Schulze, T G

    2012-12-01

    Large-scale collaborative research will be a hallmark of future psychiatric genetic research. Ideally, both academic and non-academic institutions should be able to participate in such collaborations to allow for the establishment of very large samples in a straightforward manner. Any such endeavor requires an easy-to-implement information technology (IT) framework. Here we present the requirements for a centralized framework and describe how they can be met through a modular IT toolbox.

  6. BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

    OpenAIRE

    Eccles, D. M.; Mitchell, G.; Monteiro, A. N. A.; Schmutzler, R.; Couch, F. J.; Spurdle, A. B.; Gómez-García, E. B.

    2015-01-01

    BackgroundIncreasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of Variants of Uncertain clinical Significance (VUS) ...

  7. Genetic conservation and paddlefish propagation

    Science.gov (United States)

    Sloss, Brian L.; Klumb, Robert A.; Heist, Edward J.

    2009-01-01

    The conservation of genetic diversity of our natural resources is overwhelmingly one of the central foci of 21st century management practices. Three recommendations related to the conservation of paddlefish Polyodon spathula genetic diversity are to (1) identify genetic diversity at both nuclear and mitochondrial DNA loci using a suggested list of 20 sampling locations, (2) use genetic diversity estimates to develop genetic management units, and (3) identify broodstock sources to minimize effects of supplemental stocking on the genetic integrity of native paddlefish populations. We review previous genetic work on paddlefish and described key principles and concepts associated with maintaining genetic diversity within and among paddlefish populations and also present a genetic case study of current paddlefish propagation at the U.S. Fish and Wildlife Service Gavins Point National Fish Hatchery. This study confirmed that three potential sources of broodfish were genetically indistinguishable at the loci examined, allowing the management agencies cooperating on this program flexibility in sampling gametes. This study also showed significant bias in the hatchery occurred in terms of male reproductive contribution, which resulted in a shift in the genetic diversity of progeny compared to the broodfish. This shift was shown to result from differential male contributions, partially attributed to the mode of egg fertilization. Genetic insights enable implementation of a paddlefish propagation program within an adaptive management strategy that conserves inherent genetic diversity while achieving demographic goals.

  8. Mucosal malignant melanoma - a clinical, oncological, pathological and genetic survey

    DEFF Research Database (Denmark)

    Mikkelsen, Lauge H; Larsen, Ann-Cathrine; von Buchwald, Christian

    2016-01-01

    cavity (0.2/million/year). Anorectal melanoma occurs slightly more often in females, whereas oral melanoma has a male predilection. Mucosal melanoma most commonly develops in a patient's sixth or seventh decade of life, and no differences between races have been found except for sinonasal melanoma...

  9. Bioinformatics Education in Pathology Training: Current Scope and Future Direction

    Directory of Open Access Journals (Sweden)

    Michael R Clay

    2017-04-01

    Full Text Available Training anatomic and clinical pathology residents in the principles of bioinformatics is a challenging endeavor. Most residents receive little to no formal exposure to bioinformatics during medical education, and most of the pathology training is spent interpreting histopathology slides using light microscopy or focused on laboratory regulation, management, and interpretation of discrete laboratory data. At a minimum, residents should be familiar with data structure, data pipelines, data manipulation, and data regulations within clinical laboratories. Fellowship-level training should incorporate advanced principles unique to each subspecialty. Barriers to bioinformatics education include the clinical apprenticeship training model, ill-defined educational milestones, inadequate faculty expertise, and limited exposure during medical training. Online educational resources, case-based learning, and incorporation into molecular genomics education could serve as effective educational strategies. Overall, pathology bioinformatics training can be incorporated into pathology resident curricula, provided there is motivation to incorporate, institutional support, educational resources, and adequate faculty expertise.

  10. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  11. Communication skills in diagnostic pathology.

    Science.gov (United States)

    Lehr, Hans-Anton; Bosman, Fred T

    2016-01-01

    Communication is an essential element of good medical practice also in pathology. In contrast to technical or diagnostic skills, communication skills are not easy to define, teach, or assess. Rules almost do not exist. In this paper, which has a rather personal character and cannot be taken as a set of guidelines, important aspects of communication in pathology are explored. This includes what should be communicated to the pathologist on the pathology request form, communication between pathologists during internal (interpathologist) consultation, communication around frozen section diagnoses, modalities of communication of a final diagnosis, with whom and how critical and unexpected findings should be communicated, (in-)adequate routes of communication for pathology diagnoses, who will (or might) receive pathology reports, and what should be communicated and how in case of an error or a technical problem. An earlier more formal description of what the responsibilities are of a pathologist as communicator and as collaborator in a medical team is added in separate tables. The intention of the paper is to stimulate reflection and discussion rather than to formulate strict rules.

  12. Pathological gambling: a general overview.

    Science.gov (United States)

    Ashley, Larry L; Boehlke, Karmen K

    2012-01-01

    Throughout the course of history, gambling has been a popular activity across most cultures. In the United States, gambling has transitioned from early acceptance to prohibition to widespread proliferation. For most, gambling is a relaxing and recreational activity; however, for some individuals gambling becomes more than harmless fun. The most severe form of gambling, pathological gambling, is recognized as a mental health disorder. Pathological gambling is currently classified as an impulse control disorder in the DSM-IV-TR, but it shares many important features with substance use disorders, especially in terms of diagnostic criteria, clinical course, and treatment. Consequently, the DSM-V Task Force has suggested that pathological gambling be reclassified and included in a new category entitled "Addiction and Related Disorders." The category would include both substance-related and non-substance/behavioral addictions. This article provides a general overview of some of the available literature regarding pathological gambling and includes the presentation of a number of relevant topics including etiology, risk factors, comorbidity, prevention, and treatment. However, as with most complex, multifaceted, and multidimensional phenomena, more research is needed in order to improve both prevention and treatment efforts for pathological gambling.

  13. Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Alexander Ioscovich

    2013-01-01

    Full Text Available Purpose: To date, there has been no comparison of outcomes in women undergoing anesthesia for in vitro fertilization (IVF oocyte retrieval for the purpose of pre-implantation genetic diagnosis (PGD because of their or their partner′s genetic disease relative to the outcome in women requiring IVF because of fertility issues. Materials and Methods: A prospective observational study, wherein all demographic and anesthetic management data were collected from IVF and PGD units′ records for a 6-month period. Descriptive analyses and parametric tests were employed. Results: There were 307 cases IVF and 76 cases PGD: most (97.4% and 99.7%, respectively received general anesthesia with propofol and fentanyl ± dipyrone (90.5% and 93.3%, respectively with no adverse effects. The only statistically significant difference between IVF and PGD groups that was potentially clinically significant was post-procedure recovery time (23.0 ± 20.4 vs. 29.4 ± 35.8 min, respectively; P < 0.0001, but is explainable as greater caution by Anesthesiologists for higher-risk PGD cases having autosomal dominant diseases that may impact anesthesia management (myotonic dystrophy, neurofibromatosis, Marfan′s; two of these cases also recovered in the general post-anesthesia care unit, as a precaution for early diagnosis and treatment of potential post-procedural complication. Conclusions: Results of this first-ever survey of anesthesia for PGD compared with IVF cases imply that propofol-and-fentanyl-based anesthesia is safe and can be recommended, bearing in mind that with patients who have autosomal dominant diseases impacting anesthetic management it is prudent to be more cautious post-recovery.

  14. Evaluating imaging-pathology concordance and discordance after ultrasound-guided breast biopsy

    Science.gov (United States)

    2018-01-01

    Ultrasound (US)-guided breast biopsy has become the main method for diagnosing breast pathology, and it has a high diagnostic accuracy, approaching that of open surgical biopsy. However, methods for confirming adequate lesion retrieval after US-guided biopsy are relatively limited and false-negative results are unavoidable. Determining imaging-pathology concordance after US-guided biopsy is essential for validating the biopsy result and providing appropriate management. In this review article, we briefly present the results of US-guided breast biopsy; describe general aspects to consider when establishing imaging-pathology concordance; and review the various categories of imaging-pathology correlations and corresponding management strategies. PMID:29169231

  15. Development of a hybrid genetic algorithm based decision support system for vehicle routing and scheduling in supply chain logistics managment

    OpenAIRE

    Khanian, Seyed Mohammad Shafi

    2007-01-01

    Vehicle Routing and Scheduling (VRS) constitute an important part of logistics management. Given the fact that the worldwide cost on physical distribution is evermore increasing, the global competition and the complex nature of logistics problems, one area, which determines the efficiency of all others, is the VRS activities. The application of Decision Support Systems (DSS) to assist logistics management with an efficient VRS could be of great benefit. Although the benefits of DSS in VRS are...

  16. Digital pathology in nephrology clinical trials, research, and pathology practice.

    Science.gov (United States)

    Barisoni, Laura; Hodgin, Jeffrey B

    2017-11-01

    In this review, we will discuss (i) how the recent advancements in digital technology and computational engineering are currently applied to nephropathology in the setting of clinical research, trials, and practice; (ii) the benefits of the new digital environment; (iii) how recognizing its challenges provides opportunities for transformation; and (iv) nephropathology in the upcoming era of kidney precision and predictive medicine. Recent studies highlighted how new standardized protocols facilitate the harmonization of digital pathology database infrastructure and morphologic, morphometric, and computer-aided quantitative analyses. Digital pathology enables robust protocols for clinical trials and research, with the potential to identify previously underused or unrecognized clinically useful parameters. The integration of digital pathology with molecular signatures is leading the way to establishing clinically relevant morpho-omic taxonomies of renal diseases. The introduction of digital pathology in clinical research and trials, and the progressive implementation of the modern software ecosystem, opens opportunities for the development of new predictive diagnostic paradigms and computer-aided algorithms, transforming the practice of renal disease into a modern computational science.

  17. Pathological Gambling in Parkinson's Disease

    DEFF Research Database (Denmark)

    Callesen, Mette Buhl; Linnet, Jakob; Thomsen, Kristine Rømer

    Pathological Gambling in Parkinson’s Disease Mette Buhl Callesen, Jakob Linnet, Kristine Rømer Thomsen, Albert Gjedde, Arne Møller PET Center, Aarhus University Hospital and Center of Functionally Integrative Neuroscience, Aarhus University.   The neurotransmitter dopamine is central to many...... aspects of human functioning, e.g., reward, learning, and addiction, including Pathological Gambling (PG), and its loss is key to Parkinson’s Disease (PD). PD is a neurodegenrative disorder caused by progressive loss of dopamine-producing cells in the midbrain [1]. One type of treatment of PD symptoms...

  18. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  19. Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

    Science.gov (United States)

    Umrigar, Ayesha; Musso, Amanda; Mercer, Danielle; Hurley, Annette; Glausier, Cassondra; Bakeer, Mona; Marble, Michael; Hicks, Chindo; Tsien, Fern

    2017-01-01

    Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient's family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

  20. Blood-based biomarkers of microvascular pathology in Alzheimer's disease.

    LENUS (Irish Health Repository)

    Ewers, Michael

    2012-02-01

    Sporadic Alzheimer\\'s disease (AD) is a genetically complex and chronically progressive neurodegenerative disorder with molecular mechanisms and neuropathologies centering around the amyloidogenic pathway, hyperphosphorylation and aggregation of tau protein, and neurofibrillary degeneration. While cerebrovascular changes have not been traditionally considered to be a central part of AD pathology, a growing body of evidence demonstrates that they may, in fact, be a characteristic feature of the AD brain as well. In particular, microvascular abnormalities within the brain have been associated with pathological AD hallmarks and may precede neurodegeneration. In vivo assessment of microvascular pathology provides a promising approach to develop useful biological markers for early detection and pathological characterization of AD. This review focuses on established blood-based biological marker candidates of microvascular pathology in AD. These candidates include plasma concentration of vascular cell adhesion molecule-1 (VCAM-1) and intercellular adhesion molecule-1 (ICAM-1) that are increased in AD. Measures of endothelial vasodilatory function including endothelin (ET-1), adrenomedullin (ADM), and atrial natriuretic peptide (ANP), as well as sphingolipids are significantly altered in mild AD or during the predementia stage of mild cognitive impairment (MCI), suggesting sensitivity of these biomarkers for early detection and diagnosis. In conclusion, the emerging clinical diagnostic evidence for the value of blood-based microvascular biomarkers in AD is promising, however, still requires validation in phase II and III diagnostic trials. Moreover, it is still unclear whether the described protein dysbalances are early or downstream pathological events and how the detected systemic microvascular alterations relate to cerebrovascular and neuronal pathologies in the AD brain.

  1. Pathological and Clinical Correlation between Celiac Disease and Helicobacter Pylori Infection; a Review of Controversial Reports.

    Science.gov (United States)

    Rostami-Nejad, Mohammad; Javad Ehsani-Ardakani, Mohammad; Assadzadeh, Hamid; Shahbazkhani, Bijan; Ierardi, Enzo; Losurdo, Giuseppe; Zojaji, Homayon; Alizadeh, Amirhoshang Mohammad; Naderi, Nosratollah; Sadeghi, Amir; Zali, Mohammad Reza

    2016-04-01

    There are overwhelming reports and descriptions about celiac associated disorders. Although there is a clear genetic association between celiac disease (CD) and some gastrointestinal disorders, there are controversial reports claiming an association between CD and Helicobacter pylori (H. pylori) infection. Different studies indicated the possible association between lymphocytic gastritis and both CD and H. pylori infection, although this evidence is not consistently accepted. Also it was shown that an increase in intraepithelial lymphocytes count is associated with both H. pylori infection and celiac disease. Therefore the following questions may raise: how far is this infection actually related to CD?, which are the underlying patho-mechanisms for these associations? what are the clinical implications? what is the management? and what would be the role of gluten free diet in treating these conditions? PubMed (PubMed Central), Ovid, ISI of web knowledge, and Google scholar were searched for full text articles published between 1985 and 2015. The associated keywords were used, and papers described particularly the impact of pathological and clinical correlation between CD and H. pylori infection were identified. In this review we tried to answer the above questions and discussed some of the recent developments in the pathological and clinical aspects of CD and H. pylori infection.

  2. Frequency of gambling problems among parents of pathological, versus nonpathological, casino gamblers using slot machines.

    Science.gov (United States)

    Versini, Audrey; LeGauffre, Cindy; Romo, Lucia; Adès, Jean; Gorwood, Philip

    2012-01-01

    Familial and twin studies suggest the implication of a genetic factor in pathological gambling, but mainly assess probands through treatment settings or advertisements. The question raised here is: are parents of casino pathological gamblers using slot machines more affected with pathological gambling than nonpathological gamblers, all interviewed on site at the same casino? Three hundred and fifty-five casino gamblers on slot machines, which included 96 pathological gamblers, 116 problem gamblers, and 143 nonproblem gamblers, were recruited in situ at the largest casino in the Paris suburbs. We evaluated pathological gambling and two addictive disorders (alcohol dependence and tobacco consumption) in the gamblers and their 690 parents (through the proband). Familial aggregation of pathological gambling was confirmed, with a risk of 3.3 for being a pathological gambler when at least one of the parents has problematic gambling. No familial co-aggregation of pathological gambling with alcohol or tobacco dependence was observed. Pathological gambling is found in excess in the parents of pathological casino gamblers, in accordance with previous aggregation studies devoted to other types of gambling, and with studies recruiting gamblers in different settings.  Copyright © American Academy of Addiction Psychiatry.

  3. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  4. Learning Biology with Plant Pathology.

    Science.gov (United States)

    Carroll, Juliet E.

    This monograph contains 10 plant pathology experiments that were written to correspond to portions of a biology curriculum. Each experiment is suitable to a biology topic and designed to encourage exploration of those biological concepts being taught. Experiments include: (1) The Symptoms and Signs of Disease; (2) Koch's Postulates; (3)…

  5. CT features of jejunal pathology

    International Nuclear Information System (INIS)

    Hyland, R.; Chalmers, A.

    2007-01-01

    The imaging of duodenal and ileal diseases is well documented in radiological literature but the jejunum has been relatively neglected. The aim of this review is to outline the current methods of investigation of the jejunum, and provide a comprehensive review of common pathologies affecting the jejunum, with particular emphasis on investigation by computed tomography

  6. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  7. Phytochemical, toxicological and histo-pathological studies of some ...

    African Journals Online (AJOL)

    The plants therefore possess some important biological activities that could be harnessed and employed beneficially in the management of viral and bacterial infections. Keywords: Phytochemistry; toxicology; histo-pathology; rat; medicinal plants; Nigeria International Journal of Natural and Applied Sciences Vol. 2 (3) 2006: ...

  8. Chemical pathology - to be or not to be?

    African Journals Online (AJOL)

    psychiatrists, radiologists and paediatricians. Indeed, all medical specialists are instantly identifiable by ... are often directly involved in the management of patients, that they 'can contribute significantly to the cost- ... action, chemical pathology will continue to lose the critical mass and sense of direction essential to a viable ...

  9. One fungus, one name promotes progressive plant pathology

    NARCIS (Netherlands)

    Wingfield, M.J.; De Beer, Z.W.; Slippers, B.; Wingfield, B.D.; Groenewald, J.Z.; Lombard, L.; Crous, P.W.

    2011-01-01

    The robust and reliable identification of fungi underpins virtually every element of plant pathology, from disease diagnosis to studies of biology, management/control, quarantine and, even more recently, comparative genomics. Most plant diseases are caused by fungi, typically pleomorphic organisms,

  10. One fungus, one name promotes progressive plant pathology

    NARCIS (Netherlands)

    Wingfield, M.J.; Beer, de Z.W.; Slippers, B.; Wingfield, B.D.; Groenewald, J.Z.; Lombard, L.; Crous, P.W.

    2012-01-01

    The robust and reliable identification of fungi underpins virtually every element of plant pathology, from disease diagnosis to studies of biology, management/control, quarantine and, even more recently, comparative genomics. Most plant diseases are caused by fungi, typically pleomorphic organisms,

  11. Paediatric urologic pathologies at the national teaching hospital in ...

    African Journals Online (AJOL)

    Background: Urological pathologies of children are dominated by congenital malformations of the kidneys and urinary tract. Their management is often surgical. The objective of this survey was to study etiological and therapeutic aspects of urological presentations in children. Patients and Methods: Data for aetiology, ...

  12. Genetic diversity of Morato's Digger Toad, Proceratophrys moratoi: spatial structure, gene flow, effective size and the need for differential management strategies of populations

    Directory of Open Access Journals (Sweden)

    Mauricio P. Arruda

    2017-06-01

    Full Text Available Abstract The Morato's Digger Toad, Proceratophrys moratoi, is a critically endangered toad species with a marked population decline in southern Brazilian Cerrado. Despite this, new populations are being discovered, primarily in the northern part of the distribution range, which raises a number of questions with regard to the conservation status of the species. The present study analyzed the genetic diversity of the species based on microsatellite markers. Our findings permitted the identification of two distinct management units. We found profound genetic structuring between the southern populations, on the left margin of the Tietê River, and all other populations. A marked reduction was observed in the contemporary gene flow among the central populations that are most affected by anthropogenic impacts, such as extensive sugar cane plantations, which presumably decreases habitat connectivity. The results indicated reduced diversity in the southern populations which, combined with a smaller effective population size, may make these populations more susceptible to extinction. We recommend the reclassification of P. moratoi as vulnerable and the establishment of a special protection program for the southern populations. Our results provide important insights about the local extinction of southern populations of this toad.

  13. Digital pathology: DICOM-conform draft, testbed, and first results.

    Science.gov (United States)

    Zwönitzer, Ralf; Kalinski, Thomas; Hofmann, Harald; Roessner, Albert; Bernarding, Johannes

    2007-09-01

    Hospital information systems are state of the art nowadays. Therefore, Digital Pathology, also labelled as Virtual Microscopy, has gained increased attention. Triggered by radiology, standardized information models and workflows were world-wide defined based on DICOM. However, DICOM-conform integration of Digital Pathology into existing clinical information systems imposes new problems requiring specific solutions concerning the huge amount of data as well as the special structure of the data to be managed, transferred, and stored. We implemented a testbed to realize and evaluate the workflow of digitized slides from acquisition to archiving. The experiences led to the draft of a DICOM-conform information model that accounted for extensions, definitions, and technical requirements necessary to integrate digital pathology in a hospital-wide DICOM environment. Slides were digitized, compressed, and could be viewed remotely. Real-time transfer of the huge amount of data was optimized using streaming techniques. Compared to a recent discussion in the DICOM Working Group for Digital Pathology (WG26) our experiences led to a preference of a JPEG2000/JPIP-based streaming of the whole slide image. The results showed that digital pathology is feasible but strong efforts by users and vendors are still necessary to integrate Digital Pathology into existing information systems.

  14. The history of pathology informatics: A global perspective

    Science.gov (United States)

    Park, Seung; Parwani, Anil V.; Aller, Raymond D.; Banach, Lech; Becich, Michael J.; Borkenfeld, Stephan; Carter, Alexis B.; Friedman, Bruce A.; Rojo, Marcial Garcia; Georgiou, Andrew; Kayser, Gian; Kayser, Klaus; Legg, Michael; Naugler, Christopher; Sawai, Takashi; Weiner, Hal; Winsten, Dennis; Pantanowitz, Liron

    2013-01-01

    Pathology informatics has evolved to varying levels around the world. The history of pathology informatics in different countries is a tale with many dimensions. At first glance, it is the familiar story of individuals solving problems that arise in their clinical practice to enhance efficiency, better manage (e.g., digitize) laboratory information, as well as exploit emerging information technologies. Under the surface, however, lie powerful resource, regulatory, and societal forces that helped shape our discipline into what it is today. In this monograph, for the first time in the history of our discipline, we collectively perform a global review of the field of pathology informatics. In doing so, we illustrate how general far-reaching trends such as the advent of computers, the Internet and digital imaging have affected pathology informatics in the world at large. Major drivers in the field included the need for pathologists to comply with national standards for health information technology and telepathology applications to meet the scarcity of pathology services and trained people in certain countries. Following trials by a multitude of investigators, not all of them successful, it is apparent that innovation alone did not assure the success of many informatics tools and solutions. Common, ongoing barriers to the widespread adoption of informatics devices include poor information technology infrastructure in undeveloped areas, the cost of technology, and regulatory issues. This review offers a deeper understanding of how pathology informatics historically developed and provides insights into what the promising future might hold. PMID:23869286

  15. State of the art and trends for digital pathology.

    Science.gov (United States)

    García Rojo, Marcial

    2012-01-01

    Anatomic pathology is a medical specialty where both information management systems and digital images systems paly a most important role. Digital pathology is a new concept that considers all uses of this information, including diagnosis, biomedical research and education. Virtual microscopy or whole slide imaging, resulting in digital slides, is an outreaching technology in anatomic pathology. Limiting factors in the expansion of virtual microscopy are formidable storage dimension, scanning speed, quality of image and cultural change. Anatomic pathology data and images should be an important part of the patient electronic health records as well as of clinical data warehouse, epidemiological or biomedical research databases, and platforms dedicated to translational medicine. Integrating anatomic pathology to the "healthcare enterprise" can only be achieved using existing and emerging medical informatics standards like Digital Imaging and Communications in Medicine (DICOM®1), Health Level Seven (HL7®), and Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT®), following the recommendations of Integrating the Healthcare Enterprise (IHE®). The consequences of the full digitalization of pathology departments are hard to foresee, but short term issues have arisen that imply interesting challenges for health care standards bodies.

  16. Optimal design and management of chlorination in drinking water networks: a multi-objective approach using Genetic Algorithms and the Pareto optimality concept

    Science.gov (United States)

    Nouiri, Issam

    2017-11-01

    This paper presents the development of multi-objective Genetic Algorithms to optimize chlorination design and management in drinking water networks (DWN). Three objectives have been considered: the improvement of the chlorination uniformity (healthy objective), the minimization of chlorine booster stations number, and the injected chlorine mass (economic objectives). The problem has been dissociated in medium and short terms ones. The proposed methodology was tested on hypothetical and real DWN. Results proved the ability of the developed optimization tool to identify relationships between the healthy and economic objectives as Pareto fronts. The proposed approach was efficient in computing solutions ensuring better chlorination uniformity while requiring the weakest injected chlorine mass when compared to other approaches. For the real DWN studied, chlorination optimization has been crowned by great improvement of free-chlorine-dosing uniformity and by a meaningful chlorine mass reduction, in comparison with the conventional chlorination.

  17. Cash balance management: A comparison between genetic algorithms and particle swarm optimization - doi: 10.4025/actascitechnol.v34i4.12194

    Directory of Open Access Journals (Sweden)

    Marcelo Botelho da Costa Moraes

    2012-10-01

    Full Text Available This work aimed to apply genetic algorithms (GA and particle swarm optimization (PSO in cash balance management using Miller-Orr model, which consists in a stochastic model that does not define a single ideal point for cash balance, but an oscillation range between a lower bound, an ideal balance and an upper bound. Thus, this paper proposes the application of GA and PSO to minimize the Total Cost of cash maintenance, obtaining the parameter of the lower bound of the Miller-Orr model, using for this the assumptions presented in literature. Computational experiments were applied in the development and validation of the models. The results indicated that both the GA and PSO are applicable in determining the cash level from the lower limit, with best results of PSO model, which had not yet been applied in this type of problem.

  18. A new approach to the use of genetic algorithms to solve the pressurized water reactor's fuel management optimization problem

    Energy Technology Data Exchange (ETDEWEB)

    Chapot, Jorge Luiz C. [ELETRONUCLEAR, Rio de Janeiro, RJ (Brazil); Carvalho Da Silva, Fernando; Schirru, Roberto [COPPE/UFRJ-Nuclear, Rio de Janeiro, RJ (Brazil)

    1999-05-01

    A Genetic Algorithm (GA) based system, coupling the computer codes GENESIS 5.0 and ANC through the interface ALGER has been developed aiming at pressurized water reactor's (PWR) fuel management optimization. An innovative codification, the List Model (LM), has been incorporated into the system. LM avoids the use of heuristic crossover operators and only generates valid nonrepetitive loading patterns in the reactor core. The LM has been used to solve the Traveling Salesman Problem (TSP). The results got for a benchmark problem were very satisfactory, in terms of precision and computational costs. The GENESIS/ALGER/ANC system has been successfully tested in optimization studies for Angra 1 power plant reloads.

  19. An Evaluation of the NSGA-II and MOCell Genetic Algorithms for Self-management Planning in a Pervasive Service Middleware

    DEFF Research Database (Denmark)

    Zhang, Weishan; Hansen, Klaus Marius

    2009-01-01

    Planning (for example choosing most suitable servicesfor self-configuration) is one important task in selfmanagement for pervasive service computing, and can bereduced to the problem of multi-objective services selectionwith constraints. Genetic algorithms (GAs) are effectivein solving such multi......-objective optimization problems, andare one of the most successful computational intelligenceapproaches currently available. GAs are beginning to beused in planning for self-management, but there is a lack ofcomprehensive work that evaluates GAs performance andsolution quality, and guides the setting of GAs’ parameters.......This situation makes the application of GAs difficultin the pervasive service computing domain in which performance may be critical and the settings of parameters may have big consequences for performance. In this paper, wewill present our evaluations of two GAs, namely NSGA-IIand MOCell, in the GA framework...

  20. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  1. Towards a real-time Energy Management System for a Microgrid using a multi-objective genetic algorithm

    DEFF Research Database (Denmark)

    Vergara, Pedro P.; Torquato, Ricardo; Da Silva, Luiz C.P.

    2015-01-01

    This paper proposes a real-time Energy Management System (EMS) for a low voltage (LV) Microgrid (MG). The system operation consists in solving the Unit Commitment (UC) and Economic Load Dispatch (ELD) simultaneously for 24 hours ahead at every 15-minute period. This operation is formulated...

  2. Potential Alternatives to Classical Biocontrol: Using Native Agents in Invaded Habitats and Genetically Engineered Sterile Cultivars for Invasive Plant Management

    Science.gov (United States)

    ShiLi Miao; Yi Li; Qinfeng Guo; Hua Yu; JiangQing Ding; et al.

    2012-01-01

    The development of an effective approach to control and eradication of invasive species has become a major challenge to scientists, managers, and society. Biocontrol has been widely utilized to control exotic plants in the past few decades with some degree of sucess. However, there have been an increasing number of controversies pertaining to this approach, largely...

  3. Pathology economic model tool: a novel approach to workflow and budget cost analysis in an anatomic pathology laboratory.

    Science.gov (United States)

    Muirhead, David; Aoun, Patricia; Powell, Michael; Juncker, Flemming; Mollerup, Jens

    2010-08-01

    The need for higher efficiency, maximum quality, and faster turnaround time is a continuous focus for anatomic pathology laboratories and drives changes in work scheduling, instrumentation, and management control systems. To determine the costs of generating routine, special, and immunohistochemical microscopic slides in a large, academic anatomic pathology laboratory using a top-down approach. The Pathology Economic Model Tool was used to analyze workflow processes at The Nebraska Medical Center's anatomic pathology laboratory. Data from the analysis were used to generate complete cost estimates, which included not only materials, consumables, and instrumentation but also specific labor and overhead components for each of the laboratory's subareas. The cost data generated by the Pathology Economic Model Tool were compared with the cost estimates generated using relative value units. Despite the use of automated systems for different processes, the workflow in the laboratory was found to be relatively labor intensive. The effect of labor and overhead on per-slide costs was significantly underestimated by traditional relative-value unit calculations when compared with the Pathology Economic Model Tool. Specific workflow defects with significant contributions to the cost per slide were identified. The cost of providing routine, special, and immunohistochemical slides may be significantly underestimated by traditional methods that rely on relative value units. Furthermore, a comprehensive analysis may identify specific workflow processes requiring improvement.

  4. Consensus statement on surgical pathology of the aorta from the Society for Cardiovascular Pathology and the Association For European Cardiovascular Pathology: II. Noninflammatory degenerative diseases - nomenclature and diagnostic criteria

    NARCIS (Netherlands)

    Halushka, Marc K.; Angelini, Annalisa; Bartoloni, Giovanni; Basso, Cristina; Batoroeva, Lubov; Bruneval, Patrick; Buja, L. Maximilian; Butany, Jagdish; d'Amati, Giulia; Fallon, John T.; Gallagher, Patrick J.; Gittenberger-de Groot, Adriana C.; Gouveia, Rosa H.; Kholova, Ivana; Kelly, Karen L.; Leone, Ornella; Litovsky, Silvio H.; Maleszewski, Joseph J.; Miller, Dylan V.; Mitchell, Richard N.; Preston, Stephen D.; Pucci, Angela; Radio, Stanley J.; Rodriguez, E. Rene; Sheppard, Mary N.; Stone, James R.; Suvarna, S. Kim; Tan, Carmela D.; Thiene, Gaetano; Veinot, John P.; van der Wal, Allard C.

    2016-01-01

    Surgical aortic specimens are usually examined in Pathology Departments as a result of treatment of aneurysms or dissections. A number of diseases, genetic syndromes (Marfan syndrome, Loeys-Dietz syndrome, etc.), and vasculopathic aging processes involved in vascular injury can cause both distinct

  5. Digital pathology: A systematic evaluation of the patent landscape

    Directory of Open Access Journals (Sweden)

    Ioan C. Cucoranu

    2014-01-01

    Full Text Available Introduction: Digital pathology is a relatively new field. Inventors of technology in this field typically file for patents to protect their intellectual property. An understanding of the patent landscape is crucial for companies wishing to secure patent protection and market dominance for their products. To our knowledge, there has been no prior systematic review of patents related to digital pathology. Therefore, the aim of this study was to systematically identify and evaluate United States patents and patent applications related to digital pathology. Materials and Methods: Issued patents and patent applications related to digital pathology published in the United States Patent and Trademark Office (USPTO database (www.uspto.gov (through January 2014 were searched using the Google Patents search engine (Google Inc., Mountain View, California, USA. Keywords and phrases related to digital pathology, whole-slide imaging (WSI, image analysis, and telepathology were used to query the USPTO database. Data were downloaded and analyzed using the Papers application (Mekentosj BV, Aalsmeer, Netherlands. Results: A total of 588 United States patents that pertain to digital pathology were identified. In addition, 228 patent applications were identified, including 155 that were pending, 65 abandoned, and eight rejected. Of the 588 patents granted, 348 (59.18% were specific to pathology, while 240 (40.82% included more general patents also usable outside of pathology. There were 70 (21.12% patents specific to pathology and 57 (23.75% more general patents that had expired. Over 120 unique entities (individual inventors, academic institutions, and private companies applied for pathology specific patents. Patents dealt largely with telepathology and image analysis. WSI related patents addressed image acquisition (scanning and focus, quality (z-stacks, management (storage, retrieval, and transmission of WSI files, and viewing (graphical user interface (GUI

  6. Digital pathology: A systematic evaluation of the patent landscape.

    Science.gov (United States)

    Cucoranu, Ioan C; Parwani, Anil V; Vepa, Suryanarayana; Weinstein, Ronald S; Pantanowitz, Liron

    2014-01-01

    Digital pathology is a relatively new field. Inventors of technology in this field typically file for patents to protect their intellectual property. An understanding of the patent landscape is crucial for companies wishing to secure patent protection and market dominance for their products. To our knowledge, there has been no prior systematic review of patents related to digital pathology. Therefore, the aim of this study was to systematically identify and evaluate United States patents and patent applications related to digital pathology. Issued patents and patent applications related to digital pathology published in the United States Patent and Trademark Office (USPTO) database (www.uspto.gov) (through January 2014) were searched using the Google Patents search engine (Google Inc., Mountain View, California, USA). Keywords and phrases related to digital pathology, whole-slide imaging (WSI), image analysis, and telepathology were used to query the USPTO database. Data were downloaded and analyzed using the Papers application (Mekentosj BV, Aalsmeer, Netherlands). A total of 588 United States patents that pertain to digital pathology were identified. In addition, 228 patent applications were identified, including 155 that were pending, 65 abandoned, and eight rejected. Of the 588 patents granted, 348 (59.18%) were specific to pathology, while 240 (40.82%) included more general patents also usable outside of pathology. There were 70 (21.12%) patents specific to pathology and 57 (23.75%) more general patents that had expired. Over 120 unique entities (individual inventors, academic institutions, and private companies) applied for pathology specific patents. Patents dealt largely with telepathology and image analysis. WSI related patents addressed image acquisition (scanning and focus), quality (z-stacks), management (storage, retrieval, and transmission of WSI files), and viewing (graphical user interface (GUI), workflow, slide navigation and remote control). An

  7. Innovations in teaching plant pathology.

    Science.gov (United States)

    Schumann, G L

    2003-01-01

    The teaching environment for plant pathology is changing in both positive and negative ways. Teaching expectations are increasing and resources are decreasing, but recent educational research and instructional technology offer new approaches to meet these challenges. Plant pathologists are teaching courses that may attract new students to the discipline or at least improve agricultural awareness. The Internet offers rapid access to information and images for both students and instructors. Instructional technology provides new tools for classroom presentations, communication with students, reaching new audiences, and distance learning, but using these new tools to enhance learning requires skilled and creative instructors. In the past, many plant pathology instructors worked in relative isolation, but new communication technologies and publishing opportunities for teaching scholarship should improve the sharing of instructional resources and methods.

  8. Radioisotope studies under pathologic conditions

    International Nuclear Information System (INIS)

    DeRossi; Salvatori, M.; Valenza, V.

    1987-01-01

    This article presents a general discussion on salivary pathology, before dealing with the various salivary gland diseases which can draw real advantage from radioisotope studies. Clinical problems related to the salivary glands first concern diffuse or focal glandular swelling. Focal swelling includes inflammatory or metastatic deposits in preauricular or submandibular lymph nodes, cysts, abscesses, foci of inflammation, benign and malignant neoplasms of the salivary glands themselves or of surrounding blood or lymph vessels, nerves, connective tissue, and oral mucosa. Primary tumors of the salivary glands are rare and usually benign. The combination of a systemic disease with dry mouth and dry eyes due to inflamed conjunctiva and cornea because of decreased fluid production, forms Sjogren syndrome. It may also cause diffuse glandular swelling. Chronic alcoholism, cirrhosis, diabetes mellitus, hyperlipoproteinemia, and malnutrition are other pathologic conditions sometimes associated with diffuse salivary gland swelling

  9. Interleukin-22: immunobiology and pathology

    Science.gov (United States)

    Dudakov, Jarrod A.; Hanash, Alan M.; van den Brink, Marcel R.M.

    2015-01-01

    Interleukin-22 (IL-22) is a recently described IL-10 family cytokine that is produced by T-helper (Th)-17 cells, γδ T cells, NKT cells and newly described innate lymphoid cells (ILCs). Knowledge of IL-22 biology has rapidly evolved since its discovery in 2000, and a role for IL-22 has been identified in numerous tissues including the intestines, lung, liver, kidney, thymus, pancreas and skin. IL-22 primarily targets non-hematopoietic epithelial and stromal cells where it can promote proliferation and play a role in tissue regeneration. In addition, IL-22 regulates host defense at barrier surfaces. However, IL-22 has also been linked to several conditions involving inflammatory tissue pathology. In this review, we will assess the current understanding of this cytokine, including its physiologic and pathologic effects on epithelial cell function. PMID:25706098

  10. Pharmacological Treatments in Pathological Gambling

    DEFF Research Database (Denmark)

    Grant, Jon E; Odlaug, Brian Lawrence; Schreiber, Liana R N

    2012-01-01

    AIMS: Pathological gambling (PG) is a relatively common and often disabling psychiatric condition characterized by intrusive urges to engage in deleterious gambling behavior. Although common and financially devastating to individuals and families, there currently exist no formally approved...... pharmacotherapeutic interventions for this disorder. This review seeks to examine the history of medication treatments for PG. METHODS: A systematic review of the 18 double-blind, placebo-controlled pharmacotherapy studies conducted for the treatment of pathological gambling was conducted. Study outcome and the mean...... demonstrated mixed results in controlled clinical trials. Although limited information is available, opioid antagonists and glutamatergic agents have demonstrated efficacious outcomes, especially for individuals with PG suffering from intense urges to engage in the behavior. CONCLUSIONS: Given that several...

  11. CYP polymorphisms and pathological conditions related to chronic exposure to organochlorine pesticides

    Directory of Open Access Journals (Sweden)

    Anca Oana Docea

    Full Text Available The association between genetic variations in the cytochrome P450 (CYP family genes and pathological conditions related to long-term exposure to organochlorine compounds (OCs deserves further elucidation. OCs are persistent organic pollutants with bioaccumulative and lipophilic characteristics. They can act as endocrine disruptors and perturb cellular mechanisms. Prolonged exposure to OCs has been associated with different pathological manifestations. CYP genes are responsible for transcribing enzymes essential in xenobiotic metabolism. Therefore, polymorphisms in these genetic sequences a. alter the metabolic pathways, b. induce false cellular responses, and c. may provoke pathological conditions. The main aim of this review is to define the interaction between parameters a, b and c at a mechanistic/molecular level, with references in clinical cases. Keywords: Organochlorine compounds, Cytochrome P450, Genetic polymorphisms, Pathogenesis, Environmental pollutants

  12. The normal and pathological language

    OpenAIRE

    Espejo, Luis D.

    2014-01-01

    The extraordinary development of normal and pathological psychology has achieved in recent decades, thanks to the dual method of objective observation and oral survey enabled the researcher spirit of neuro-psychiatrist penetrate the intimate mechanism of the nervous system whose supreme manifestation is thought. It is normal psychology explaining the complicated game of perceptions: their methods of transmission, their centers of projection, its transformations and its synthesis to construct ...

  13. Informational pathologies and interest bubbles

    DEFF Research Database (Denmark)

    Hendricks, Vincent Fella; Wiewiura, Joachim Schmidt

    2017-01-01

    This article contends that certain configurations of information networks facilitate specific cognitive states that are instrumental for decision and action on social media. Group-related knowledge and belief states—in particular common knowledge and pluralistic ignorance—may enable strong public...... signals. Indeed, some network configurations and attitude states foster informational pathologies that may fuel interest bubbles affecting agenda-setting and the generation of narratives in public spheres....

  14. Pathological features of glutaminase toxicity.

    Science.gov (United States)

    Baskerville, A.; Hambleton, P.; Benbough, J. E.

    1980-01-01

    In an investigation of the toxicity of the anti-tumour enzyme glutaminase Rhesus monkeys, marmosets, rabbits and mice were given various doses of chemically modified glutaminase parenterally. The enzyme induced diarrhoea and dysentery and at all but the lowest doses caused illness which was fatal within 10 days. Pathological lesions produced were hepatic lipidosis and glycogen accumulation, and, in the primates, acute necrotizing colitis. Images Fig. 1 Fig. 2 PMID:6775661

  15. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    DEFF Research Database (Denmark)

    Ferrari, Raffaele; Wang, Yunpeng; Vandrovcova, Jana

    2017-01-01

    BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between...

  16. Sunlight to hydrogen conversion: Design optimization and energy management of concentrated photovoltaic (CPV-Hydrogen) system using micro genetic algorithm

    International Nuclear Information System (INIS)

    Burhan, Muhammad; Chua, Kian Jon Ernest; Ng, Kim Choon

    2016-01-01

    Owing to the intermittent solar irradiance from cloud cover in the diurnal period and unavailability at night time, the practical design of a solar system requires energy backup storage for an uninterrupted supply or for off-grid operation. However, for highly efficient CPV (concentrated photovoltaic) system, the literature is lacking for energy management and optimization algorithm and tool for standalone operation. In this paper, a system with CPV and electrolyser is presented where beam irradiance of sunlight is harnessed to convert the instantaneously generated electricity into useful Hydrogen/Oxygen gas, where they can be stored and re-used for downstream applications such as the fuel cells, etc. The multi-variable design and multi-objective optimization strategies are proposed and presented for a standalone operation of the CPV-Hydrogen system as well as their system performances, particularly electrical rating of CPV based upon the real weather data of Singapore. - Highlights: • Design modelling and energy management strategy is proposed for CPV-Hydrogen system. • Micro GA does multi-variable and multi-objective optimization for standalone operation. • Design is verified and analysed for minimum cost, zero PSFT and optimal storage. • Performance of each component is presented for different real weather data conditions. • Proposed design approach is applicable in all regions with low and high DNI.

  17. Outdoor air pollution, genetic susceptibility, and asthma management: opportunities for intervention to reduce the burden of asthma.

    Science.gov (United States)

    Gilliland, Frank D

    2009-03-01

    Outdoor air pollution at levels occurring in many urban areas around the world has substantial adverse effects on health. Children in general, and children with asthma in particular, are sensitive to the adverse effects of outdoor air pollutants, including ozone, nitrogen oxides, and respirable particulate matter. A growing number of studies also show that children living in environments near traffic have increased risks of new-onset asthma, asthma symptoms, exacerbations, school absences, and asthma-related hospitalizations. The large population of children exposed to high levels of outdoor air pollutants and the substantial risks for adverse health effects present unexploited opportunities to reduce the burden of asthma. Because the evidence indicates significant adverse effects of air pollution at current levels, there is clearly a need to reduce levels of regulated pollutants such as ozone, as well as unregulated pollutants in tailpipe emissions from motor vehicles. Achieving this long-term goal requires the active involvement of physicians and medical providers to ensure that the health of children is at the top of the list of competing priorities for regulatory policy decision-making. Clinical approaches include treatment to control asthma and patient education to reduce adverse effects of the disease. Reduction in exposures also can be approached at a policy level through changes in schools and school bus operations. Beyond clinical and public health approaches to reduce exposure, another strategy to be used before clean air goals are met is to decrease the susceptibility of children to air pollution. Emerging research indicates that dietary supplementation for individuals with low antioxidant levels is one promising approach to reducing susceptibility to air pollution. A second approach involves induction of enzymatic antioxidant defenses, especially for individuals with at-risk genetic variants of key antioxidant enzymes.

  18. The relation between dimensions of normal and pathological personality and childhood maltreatment in incarcerated boys.

    Science.gov (United States)

    Nederlof, E; Van der Ham, J M; Dingemans, P M J A; Oei, T I

    2010-12-01

    The relation between subtypes of maltreatment and dimensions of personality and personality pathology was investigated in a representative sample of 142 incarcerated Dutch male juveniles. Normal personality dimensions were assessed with the Big Five Inventory, the Dimensional Assessment of Personality Pathology-Basic Questionnaire for Adolescents was used to measure pathological personality dimensions, and the Childhood Trauma Questionnaire was used to assess childhood maltreatment. The five maltreatment subtypes were found to be differentially and uniquely related to the normal and pathological personality dimensions in juvenile delinquents. The association between the abusive subtypes and Emotional Dysregulation depended on the co-occurrence of neglect. It was concluded that subtypes of maltreatment are distinctively related to dimensions of personality and personality pathology, possibly due to specific gene-environment interactions. Further research on this interplay is needed to be able to recognize genetic vulnerability. Early identification of children at risk could aid to limit the long-term consequences of maltreatment.

  19. Noel T. Keen--pioneer leader in molecular plant pathology.

    Science.gov (United States)

    Collmer, Alan; Gold, Scott

    2007-01-01

    Noel T. Keen (1940-2002) made pioneering contributions to molecular plant pathology during a period when the study of disease mechanisms was transformed by the new tools of molecular genetics. His primary contributions involved race-specific elicitors of plant defenses and bacterial pectic enzymes. In collaboration with Brian J. Staskawicz and Frances Jurnak, respectively, Noel cloned the first avirulence gene and determined that pectate lyase C possessed a novel structural motif, known as the parallel beta-helix. Noel received his B.S. and M.S. from Iowa State University in Ames and his Ph.D. from the Department of Plant Pathology at the University of Wisconsin in Madison in 1968. He joined the faculty of the Department of Plant Pathology at the University of California at Riverside the same year and remained there his entire career. He served as Chair of the department from 1983 to 1989 and in 1997 assumed the William and Sue Johnson Endowed Chair in Molecular Plant Pathology. He became a Fellow of the American Phytopathological Society in 1991, a Fellow of the American Association for the Advancement of Science in 1996, a Fellow of the American Academy of Microbiology in 1997, and a member of the National Academy of Sciences in 1997. He was serving as President of the American Phytopathological Society (2001-2002) at the time of his death.

  20. Informational Aspects of Telepathology in Routine Surgical Pathology

    Directory of Open Access Journals (Sweden)

    Peter Gombas

    2000-01-01

    Full Text Available Application of computer and telecommunication technology calls serious challenges in routine diagnostic pathology. Complete data integration, fast access patients' data to usage of diagnosis thesaurus labeled with standardized codes and free text supplements, complex inquiry of the data contents, data exchange via teleconsultation and multilevel data protection are required functions of an integrated information system. Increasing requirement for teleconsultation transferring a large amount of multimedia data among different pathology information systems raises new questions in telepathology. Creation of complex telematic systems in pathology requires efficient methods of software engineering and implementation. Information technology of object‐oriented modeling, usage of client server architecture and relational database management systems enables more compatible systems in field of telepathology. The aim of this paper is to present a practical example how to unify text based database, image archive and teleconsultation in a frame of an integrated telematic system and to discuss the main conceptual questions of information technology of telepathology.