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Sample records for genetics pathology management

  1. 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.

  2. Genetics and underlying pathology of dementia.

    Science.gov (United States)

    Ferencz, Beata; Gerritsen, Lotte

    2015-03-01

    As the population steadily ages, dementia, in all its forms, remains a great societal challenge. Yet, our knowledge of their etiology remains rather limited. To this end, genetic studies can give us insight into the underlying mechanisms that lead to the development of dementia, potentially facilitating treatments in the future. In this review we cover the most recent genetic risk factors associated with the onset of the four most common dementia types today, including Alzheimer's disease (AD), Vascular Dementia (VaD), Frontotemporal Lobar Degeneration (FTLD) and Lewy Body Dementia (LBD). Moreover, we discuss the overlap in major underlying pathologies of dementia derived from their genetic associations. While all four dementia types appear to involve genes associated with tau-pathology and neuroinflammation only LBD, AD and VaD appear to involve amyloid genes while LBD and FTLD share alpha synuclein genes. Together these findings suggest that some of the dementias may exist along a spectrum and demonstrates the necessity to conduct large-scale studies pinpointing the etiology of the dementias and potential gene and environment interactions that may influence their development.

  3. 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.

  4. [Quality Management System in Pathological Laboratory].

    Science.gov (United States)

    Koyatsu, Junichi; Ueda, Yoshihiko

    2015-07-01

    Even compared to other clinical laboratories, the pathological laboratory conducts troublesome work, and many of the work processes are also manual. Therefore, the introduction of the systematic management of administration is necessary. It will be a shortcut to use existing standards such as ISO 15189 for this purpose. There is no standard specialized for the pathological laboratory, but it is considered to be important to a pathological laboratory in particular. 1. Safety nianagement of the personnel and environmental conditions. Comply with laws and regulations concerning the handling of hazardous materials. 2. Pre-examination processes. The laboratory shall have documented procedures for the proper collection and handling of primary samples. Developed and documented criteria for acceptance or rejection of samples are applied. 3. Examination processes. Selection, verification, and validation of the examination procedures. Devise a system that can constantly monitor the traceability of the sample. 4. Post-examination processes. Storage, retention, and disposal of clinical samples. 5. Release of results. When examination results fall within established alert or critical intervals, immediately notify the physicians. The important point is to recognize the needs of the client and be aware that pathological diagnoses are always "the final diagnoses".

  5. [To an integrative management of pathological gamblers].

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    Bonnaire, C

    2011-12-01

    Recent researches on pathological gambling indicate that the various gambling activities are heterogeneous by nature. Indeed, some findings support the view that gambling cannot be seen as a homogeneous activity. Therefore, pathological gamblers do not represent a homogeneous population. However, treatment does not appear to take into account this heterogeneity and studies in the field have assessed the efficacy of the various types of treatment. Furthermore, recent empirical data emphasize the need for delineating distinct subtypes of pathological gambling presenting similar symptoms but which, at the same time, differ on certain variables. These subtypes will be essential in the management, treatment, and prognosis of pathological gambling. Blaszczynski and Nower (2002) identified three subtypes of gamblers. The first subtype, referred to as the "emotionally vulnerable problem gamblers", includes gamblers who mainly gamble to escape painful emotional experiences. The second includes "antisocial impulsivist problem gamblers" who are mainly driven by impulsivity and sensation seeking. The last one, referred to as the "behaviourally conditioned problem gamblers", includes gamblers who gamble because of behavioural contingencies offered by the game, rather than psychological difficulties. Each group is characterized by specific psychological variables, and each may require a different treatment approach. Hence, these subgroups should be used and taken into account in the choice of the treatment. The purpose of this article is to provide an integrative model of treatment of this disorder based on the typology of pathological gamblers. Many studies have tried to understand this pathological behaviour by exploring motivational, psychological, biological and ecological correlates of gambling to explain the aetiology. An approach integrating various orientations, at the same time cognitive-behavioural, motivational, psychoanalytical and bodily-centred is the most relevant

  6. Congenital malformations of the brain: Pathological, embryological, clinical, radiological, and genetic aspects

    Energy Technology Data Exchange (ETDEWEB)

    Norman, M.G.; McGillivray, B.; Kalousek, D.K.; Hill, A.; Poskitt, K.

    1995-12-31

    Although I can quibble with the treatment of a few topics, this is by far the best book ever written on human brain malformations. The senior author has studied the pathology of human brain malformations throughout her career and has strengthened the book greatly by seeking coauthors to help with critical areas such as brain imaging, clinical management, and, especially, genetics.

  7. 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.)

  8. Genetic evolution of enterovirus 71: epidemiological and pathological implications.

    Science.gov (United States)

    Bible, Jon M; Pantelidis, Panagiotis; Chan, Paul K S; Tong, C Y William

    2007-01-01

    Since its discovery in the 1970s, enterovirus 71 (EV71) has become one of the most pathogenic enterovirus serotypes causing recurrent outbreaks in different parts of the world. Three waves of outbreaks globally have been recorded over the last three decades and more recently active circulation of EV71 is evident amongst countries in South East Asia and beyond. There is evidence of a continuous evolution in its genetic make up which is likely to impact on its epidemiology and pathological potential. This review examines the molecular genetics and evolution of EV71 in relation to its epidemiological and pathological properties. A thorough understanding of the relationship between the genetic changes and the resulting host-virus interaction is essential for successful control.

  9. Analysis of mouse model pathology: a primer for studying the anatomic pathology of genetically engineered mice.

    Science.gov (United States)

    Cardiff, Robert D; Miller, Claramae H; Munn, Robert J

    2014-06-02

    This primer of pathology is intended to introduce investigators to the structure (morphology) of cancer with an emphasis on genetically engineered mouse (GEM) models (GEMMs). We emphasize the necessity of using the entire biological context for the interpretation of anatomic pathology. Because the primary investigator is responsible for almost all of the information and procedures leading up to microscopic examination, they should also be responsible for documentation of experiments so that the microscopic interpretation can be rendered in context of the biology. The steps involved in this process are outlined, discussed, and illustrated. Because GEMMs are unique experimental subjects, some of the more common pitfalls are discussed. Many of these errors can be avoided with attention to detail and continuous quality assurance.

  10. 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.

  11. Digital workflow management for quality assessment in pathology.

    Science.gov (United States)

    Kalinski, Thomas; Sel, Saadettin; Hofmann, Harald; Zwönitzer, Ralf; Bernarding, Johannes; Roessner, Albert

    2008-01-01

    Information systems (IS) are well established in the multitude of departments and practices of pathology. Apart from being a collection of doctor's reports, IS can be used to organize and evaluate workflow processes. We report on such a digital workflow management using IS at the Department of Pathology, University Hospital Magdeburg, Germany, and present an evaluation of workflow data collected over a whole year. This allows us to measure workflow processes and to distinguish the effects of alterations in the workflow for quality assessment. Moreover, digital workflow management provides the basis for the integration of diagnostic virtual microscopy.

  12. 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

  13. OTOMYCOSIS–MYCOLOGICAL SPECTRUM AETIO-PATHOLOGICAL FACTORS AND MANAGEMENT

    OpenAIRE

    Jyothi Swarup; Waseem Ahmed; Mohan,, V; Sathyaki; Sharadadevi; Fouzia; Vandana; Rashm

    2014-01-01

    Otomycosis is a fungal infection of External auditory canal. Otomycosis has worldwide distribution with high prevalence in hot, humid and dusty climates of tropical and subtropical regions. Management of Otomycosis is dependent on thorough understanding of anatomy of external ear canal, knowledge of microbiology and pathophysiology of potential pathogens. OBJECTIVES: To determine importance of various aetio-pathological factors in causation of Otomycosis. To study pattern ...

  14. 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.

  15. 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

  16. Management of intracranial pathology during pregnancy: Case example and review of management strategies

    Directory of Open Access Journals (Sweden)

    Vijay M Ravindra

    2015-01-01

    Conclusions:Pregnancy presents a challenge for any patient requiring neurosurgical intervention. We present an interesting case example with a rare central nervous system neoplasm and discuss the management of intracranial pathology in pregnant patients.

  17. Defects in trafficking bridge Parkinson's disease pathology and genetics.

    Science.gov (United States)

    Abeliovich, Asa; Gitler, Aaron D

    2016-11-10

    Parkinson's disease is a debilitating, age-associated movement disorder. A central aspect of the pathophysiology of Parkinson's disease is the progressive demise of midbrain dopamine neurons and their axonal projections, but the underlying causes of this loss are unclear. Advances in genetics and experimental model systems have illuminated an important role for defects in intracellular transport pathways to lysosomes. The accumulation of altered proteins and damaged mitochondria, particularly at axon terminals, ultimately might overwhelm the capacity of intracellular disposal mechanisms. Cell-extrinsic mechanisms, including inflammation and prion-like spreading, are proposed to have both protective and deleterious functions in Parkinson's disease.

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

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    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.

  19. The cancer genetics and pathology of male breast cancer.

    Science.gov (United States)

    Deb, Siddhartha; Lakhani, Sunil R; Ottini, Laura; Fox, Stephen B

    2016-01-01

    Male breast cancer (MBC) is an uncommon and poorly understood disease. Recent molecular studies have shown important differences from female breast cancer which are likely to influence treatment strategies from the current female-based management towards a more tailored approach. Significantly more MBCs than female breast cancers arise with an underlying germline cancer predisposition, and display a vastly different penetrance compared with females. Furthermore, the genophenotypical association of basal-like cancer with BRCA1 present in female breast cancer is not observed in male breast cancer. Differences in somatic changes between male and female breast cancer have also been reported, with particular enrichment of PIK3CA mutations and a paucity of TP53 mutations. In general, chromosomal-based changes, in particular regions of gains, are seen more frequently in male than female breast cancer and methylation is seen less frequently. Clinically, several molecular subtypes with prognostic relevance have been described, including chromosomal complex high and methylation high groups, and subgroups with profiling signatures pertaining to epithelial mesenchymal transition and hormonal therapy insensitivity. As with female breast cancer, attention to male specific multicentre trials based on the individual characteristics are needed, together with establishment of reliable preclinical models to understand more clearly the pathogenesis of male breast cancer and improve the general poor outcome of this disease.

  20. Oral pathology in a group of Mexican patients with genetic diseases.

    Science.gov (United States)

    Montoya Pérez, Luis A; Arenas Sordo, María de la Luz; Hernández Zamora, Edgar; Aldape Barrios, Beatriz C

    2007-03-01

    Without considering infectious and traumatic diseases, the great majority of oral cavity diseases have a genetic base, in some cases identifiable, in others not. For the stomatologists it is of great importance to know the clinical characteristics and type of alteration that go with genetic etiology syndromes to be able to offer patients an adequate multidisciplinary treatment. Intentional search and description of oral pathology in patients with diverse genetic diseases. An observational and descriptive 4 month study of 62 patients from the Genetics Department of the National Institute of Rehabilitation, was done. Taken into consideration, aside from oral manifestations and genetic disease, were age, sex, consanguinity and inbreeding. The majority of patients who have genetic pathology do not have curative treatment, but they can receive other treatments to improve their quality of life, among these are dental treatments. The more common diseases we found were hereditary peripheral neuropathies, skeletal dysplasias, limb malformation and muscular dystrophies. Diverse features were described, registered and grouped according to their location. Presently it is important to look for the genetic etiology of all diseases to seek specific treatments and prevent them. This will change the practice of medicine and dentistry.

  1. Fetal laser therapy: applications in the management of fetal pathologies.

    Science.gov (United States)

    Mathis, Jérôme; Raio, Luigi; Baud, David

    2015-07-01

    Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or fetal hyperechoic lung lesions can lead to fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or fetal tumor feeding vessels and laser therapy by fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy.

  2. OTOMYCOSIS–MYCOLOGICAL SPECTRUM AETIO-PATHOLOGICAL FACTORS AND MANAGEMENT

    Directory of Open Access Journals (Sweden)

    Jyothi Swarup

    2014-05-01

    Full Text Available Otomycosis is a fungal infection of External auditory canal. Otomycosis has worldwide distribution with high prevalence in hot, humid and dusty climates of tropical and subtropical regions. Management of Otomycosis is dependent on thorough understanding of anatomy of external ear canal, knowledge of microbiology and pathophysiology of potential pathogens. OBJECTIVES: To determine importance of various aetio-pathological factors in causation of Otomycosis. To study pattern of fungal isolates encountered in cases of Otomycosis. To study management of the disease. MATERIALS AND METHODS: This study was undertaken in the Department of Otorhinolaryngology, Sri Siddhartha Medical College & Hospital, Tumkur from January 2012 to December 2012. It was a time bound study, wherein 51 cases were studied. OBSERVATION AND RESULTS: Highest incidence (25.5% was noted in age group of 21-30 years. Common predisposing factor was use of unsterile material for cleaning ear in 55.3% cases. Fungal debris within canal in form of wet brownish black or grey mouldy mats/ spores with epithelial debris was found in 53.2% cases. Aspergillus was most common fungus isolated in 81%. Clotrimazole showed good response symptomatically and mycological clearance was seen within one week in 74.4% cases and persistence of disease up to 2 - 4 weeks was seen in 25.5% cases. On follow up failure or recurrence disease within 2 months was observed in 10.6% of cases. CONCLUSION: In conclusion Otomycosis/mycotic otitis externa is still a common problem and is often misdiagnosed for other chronic otitis conditions.

  3. Products of nature and the Association for Molecular Pathology v. Myriad Genetics, Inc. Case

    OpenAIRE

    Conde-Gutiérrez, Carlos A.; Díaz, Lina María

    2013-01-01

    The Supreme Court of Justice of the United States in Association for Molecular Pathology vs. Myriad Genetics, Inc. rules out patents over isolated DNA as they were not different from products of nature, yet it maintains patents over synthetizes genes or DNAC. This decision has redefined the scope of the doctrine of products of nature on biotechnological invention as established by Diamond vs. Chakrabarty. Coincidentally, the Supreme Court’s new interpretation is in harmony with the Andean Tri...

  4. Genetics and management of retinoblastoma

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    Bakhshi Sameer

    2007-01-01

    Full Text Available Retinoblastoma is the most common intraocular tumor in childhood. In majority of early stage retinoblastoma, the eyeballs as well as vision can be preserved with chemotherapy and local intraocular therapy with laser or photocoagulation. However, more than half the patients in India and other developing nations present in advanced stage of the disease. This article reviews the genetics, clinical approach, and treatment options for retinoblastoma focussing on advances in chemotherapy for intraocular retinoblastoma (chemoreduction, as well as improvement in survival in advanced retinoblastoma with surgery, chemotherapy, radiotherapy, and bone marrow transplantation.

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

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    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

  6. Neural stem cells genetically-modified to express neprilysin reduce pathology in Alzheimer transgenic models.

    Science.gov (United States)

    Blurton-Jones, Mathew; Spencer, Brian; Michael, Sara; Castello, Nicholas A; Agazaryan, Andranik A; Davis, Joy L; Müller, Franz-Josef; Loring, Jeanne F; Masliah, Eliezer; LaFerla, Frank M

    2014-04-16

    Short-term neural stem cell (NSC) transplantation improves cognition in Alzheimer's disease (AD) transgenic mice by enhancing endogenous synaptic connectivity. However, this approach has no effect on the underlying beta-amyloid (Aβ) and neurofibrillary tangle pathology. Long term efficacy of cell based approaches may therefore require combinatorial approaches. To begin to examine this question we genetically-modified NSCs to stably express and secrete the Aβ-degrading enzyme, neprilysin (sNEP). Next, we studied the effects of sNEP expression in vitro by quantifying Aβ-degrading activity, NSC multipotency markers, and Aβ-induced toxicity. To determine whether sNEP-expressing NSCs can also modulate AD-pathogenesis in vivo, control-modified and sNEP-NSCs were transplanted unilaterally into the hippocampus of two independent and well characterized transgenic models of AD: 3xTg-AD and Thy1-APP mice. After three months, stem cell engraftment, neprilysin expression, and AD pathology were examined. Our findings reveal that stem cell-mediated delivery of NEP provides marked and significant reductions in Aβ pathology and increases synaptic density in both 3xTg-AD and Thy1-APP transgenic mice. Remarkably, Aβ plaque loads are reduced not only in the hippocampus and subiculum adjacent to engrafted NSCs, but also within the amygdala and medial septum, areas that receive afferent projections from the engrafted region. Taken together, our data suggest that genetically-modified NSCs could provide a powerful combinatorial approach to not only enhance synaptic plasticity but to also target and modify underlying Alzheimer's disease pathology.

  7. Mining the human genome after Association for Molecular Pathology v. Myriad Genetics.

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    Evans, Barbara J

    2014-07-01

    The Supreme Court's recent decision in Association for Molecular Pathology v. Myriad Genetics portrays the human genome as a product of nature. This frames medical genetics as an extractive industry that mines a natural resource to produce valuable goods and services. Natural resource law offers insights into problems medical geneticists can expect after this decision and suggests possible solutions. Increased competition among clinical laboratories offers various benefits but threatens to increase fragmentation of genetic data resources, potentially causing waste in the form of lost opportunities to discover the clinical significance of particular gene variants. The solution lies in addressing legal barriers to appropriate data sharing. Sustainable discovery in the field of medical genetics can best be achieved through voluntary data sharing rather than command-and-control tactics, but voluntary mechanisms must be conceived broadly to include market-based approaches as well as donative and publicly funded data commons. The recently revised Health Insurance Portability and Accountability Act Privacy Rule offers an improved--but still imperfect--framework for market-oriented data sharing. This article explores strategies for addressing the Privacy Rule's remaining defects. America is close to having a legal framework that can reward innovators, protect privacy, and promote needed data sharing to advance medical genetics.

  8. Productos de la naturaleza y el caso Association for Molecular Pathology v. Myriad Genetics, Inc.

    OpenAIRE

    Conde-Gutiérrez, Carlos A.; Lina María Díaz

    2013-01-01

    La Corte Suprema de Justicia de Estados Unidos, en el caso Association for Molecular Pathology v. Myriad Genetics, Inc., revocó patentes que reivindicaban secuencias de ADN aislado, por considerar que no son diferentes de los productos de la naturaleza, aunque otras patentes sobre genes que han sido sintetizados (ADNC) resultaron indemnes. Esta decisión redefinió el alcance de la doctrina de los productos de la naturaleza en invenciones biotecnológicas como había sido establecido en Diamond v...

  9. Maternal floor infarction: management of an underrecognized pathology.

    Science.gov (United States)

    Al-Sahan, Nada; Grynspan, David; von Dadelszen, Peter; Gruslin, Andrée

    2014-01-01

    Maternal floor infarction is a relatively rare condition characterized clinically by severe early onset fetal growth restriction with features of uteroplacental insufficiency. It has a very high recurrence rate and carries a significant risk or fetal demise. Pathological characteristics include massive and diffuse fibrin deposition along the decidua basalis and the perivillous space of the basal plate. We present a case of recurrent maternal floor infarction and propose diagnostic clues as well as potential therapeutic options.

  10. Managing genetic diversity and society needs

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    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.

  11. Production of WTC.ZI-zi rat congenic strain and its pathological and genetic analyses.

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    Kuramoto, T; Yamasaki, K; Kondo, A; Nakajima, K; Yamada, M; Serikawa, T

    1998-04-01

    A new rat congenic strain, WTC.ZI-zi, was produced after eleven generations of backcrossing between ZI strain as a donor strain and WTC strain as an inbred partner. WTC.ZI-zi/zi homozygous rats generally exhibit more conspicuous body tremor and much earlier occurrence of flaccid paresis than the original ZI strain. The average life span of the congenic strain is approximately nine months, which is also much shorter than that of the original ZI strain. Pathological analysis of the central nervous system of the congenic strain revealed more aggravated vacuolation and hypomyelination than in the original ZI strain. Establishment of the genetic profile with microsatellite markers showed that the congenic strain was genetically almost identical to the WTC strain except for a small chromosome segment bearing the zitter gene. Analysis of markers in this region implied that the length of the donor segment was approximately 13.4 centimorgans which corresponded to 0.65% of the total genome. Thus, these results suggested that expressional alterations of zitter gene were due to replacement of the genetic background from the original ZI strain to the WTC strain. Furthermore, the WTC.ZI-zi congenic strain could provide a refined tool for the analysis of zitter mutation, because the congenic strain has a strict control strain, WTC, and the length of the donor chromosome is genetically defined.

  12. Productos de la naturaleza y el caso Association for Molecular Pathology v. Myriad Genetics, Inc.

    Directory of Open Access Journals (Sweden)

    Carlos A. Conde-Gutiérrez

    2013-11-01

    Full Text Available La Corte Suprema de Justicia de Estados Unidos, en el caso Association for Molecular Pathology v. Myriad Genetics, Inc., revocó patentes que reivindicaban secuencias de ADN aislado, por considerar que no son diferentes de los productos de la naturaleza, aunque otras patentes sobre genes que han sido sintetizados (ADNC resultaron indemnes. Esta decisión redefinió el alcance de la doctrina de los productos de la naturaleza en invenciones biotecnológicas como había sido establecido en Diamond v. Chakrabart; adicionalmente, esta nueva reinterpretación de la Corte se armoniza con lo establecido con anterioridad por el Tribunal de Justicia Andino. El presente artículo analiza la doctrina de los productos de la naturaleza a la luz del caso Association for Molecular Pathology v. Myriad Genetics, Inc., sus implicaciones para la industria biotecnológica a nivel mundial y la jurisprudencia del Tribunal Andino de Justicia frente al tema.

  13. Dental pathology in conventionally fed and pasture managed dairy cattle.

    Science.gov (United States)

    Fadden, A N; Poulsen, K P; Vanegas, J; Mecham, J; Bildfell, R; Stieger-Vanegas, S M

    2016-01-02

    Healthy teeth are important in the first stages of digestion for dairy cattle, yet little is known about bovine dental disease. This study aimed to investigate dental pathology of dairy cattle in two parts. First dairy cattle cadaver heads (n=11) were examined at the time of culling. Second, the authors performed oral exams in cattle fed a total mixed ration (TMR) (n=200) and pasture-based (n=71) grazing cattle. Cadaver heads were imaged using radiography and computed tomography before gross dissection to study dental anatomy and pathology. The most prevalent dental abnormalities were excessive transverse ridging of the occlusal surface, the presence of diastemas and third molar dental overgrowths (M3DO) in cadaver heads. Average thickness of subocclusal dentine ranged from 3.5 mm to 5.8 mm in cheek teeth but was >10 mm in maxillary teeth with M3DO. Radiographic findings were compared with oral examinations in live cattle. Prevalence of M3DO upon oral examination was 19 per cent and 28 per cent in herds of cattle fed a TMR diet and 0 per cent in a herd of grazing cattle. Dental abnormalities are prevalent in dairy cattle but due to thin subocclusal dentine in the cheek teeth, established equine dental treatment methodology is not appropriate for bovine cheek teeth with the exception of those that have developed M3DO.

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

    Directory of Open Access Journals (Sweden)

    N.K. Malaya

    2014-03-01

    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.

  15. The presentation, pathology, and current management strategies of cutaneous metastasis

    Directory of Open Access Journals (Sweden)

    Christina Yin Bin Wong

    2013-01-01

    Full Text Available Skin metastases are rare in the routine clinical practice of dermatology, but are of major clinical significance because they usually indicate advanced disease. We reviewed the literature on skin metastasis regarding recent trends in clinical presentation and diagnosis of the most common cutaneous lesions. An extensive literature review was conducted using PubMed from May 26, 2011 to July 16, 2013 relating cutaneous metastases. Articles chosen for reference were queried with the following prompts: "Cutaneous metastases", "clinical presentation", "histological features", and "immunohistochemistry". Further searches included "treatment" and "management" options for "metastatic breast", "metastatic colorectal", "metastatic melanoma", "metastatic lung", and "hematologic cancers." We also reviewed the literature on the current management of melanoma as a model for all cutaneous metastatic disease. Our own clinical findings are presented and compared to the literature. Additionally, we highlight the most useful immunohistochemical studies that aid in diagnoses. Several novel therapies and combination therapies such as electrochemotherapy, vemurafenib, and imiquimod will be discussed for palliative treatment of cancers that have been found to improve cutaneous lesions. We review these notable findings and developments regarding skin metastases for the general dermatologist.

  16. Novel Genetic Models to Study the Role of Inflammation in Brain Injury-Induced Alzheimer’s Pathology

    Science.gov (United States)

    2015-12-01

    AWARD NUMBER: W81XWH-12-1-0629 TITLE: Novel Genetic Models to Study the Role of Inflammation in Brain Injury-Induced Alzheimer’s Pathology...30Sep2014 - 29Sep2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER 12109018 TATRC Novel Genetic Models to Study the Role of Inflammation in Brain Injury...another avenue in which brain injury can occur and often a consequence of TBI. Comparing results from TBI and stroke studies will be important is

  17. 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.

  18. 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.

  19. The determination of genetic markers of age-related cancer pathologies in populations from Kazakhstan

    Directory of Open Access Journals (Sweden)

    Leyla Bulatovna Djansugurova

    2013-05-01

    Full Text Available Aging associates with a variety of pathological conditions such as cancer, cardiovascular, neurodegenerative, autoimmune diseases, and metabolic disorders. The oncogenic alterations overlap frequently with the genes linked to aging. Here, we show that several aging related genes may serve as the genetic risk factors for cervical and esophagus cancers. In our study, we analyzed samples obtained from 115 patients with esophageal and 207 patients with cervical cancer. The control groups were selected to match the ethnicity and age of cancer patients. We examined the genes involved in the processes of xenobiotics detoxification (GSTM1 and GSTT1, DNA repair (XRCC1 and XRCC3, and cell cycle regulation and apoptosis (CCND1 and TP53. Our study revealed that deletions of GSTT1 and GSTM1 genes or the distinct point mutations of XRCC1 gene are associated with cervical and esophageal cancers. These results will lead to development of screening for detection of individuals susceptible to esophageal and cervical cancers. Introduction of the screening programs will allow the early and effective preventive measures that will reduce cancer incidence and mortality in Kazakhstan.

  20. Genetic and Environmental Models of Circadian Disruption Link SRC-2 Function to Hepatic Pathology.

    Science.gov (United States)

    Fleet, Tiffany; Stashi, Erin; Zhu, Bokai; Rajapakshe, Kimal; Marcelo, Kathrina L; Kettner, Nicole M; Gorman, Blythe K; Coarfa, Cristian; Fu, Loning; O'Malley, Bert W; York, Brian

    2016-10-01

    Circadian rhythmicity is a fundamental process that synchronizes behavioral cues with metabolic homeostasis. Disruption of daily cycles due to jet lag or shift work results in severe physiological consequences including advanced aging, metabolic syndrome, and even cancer. Our understanding of the molecular clock, which is regulated by intricate positive feedforward and negative feedback loops, has expanded to include an important metabolic transcriptional coregulator, Steroid Receptor Coactivator-2 (SRC-2), that regulates both the central clock of the suprachiasmatic nucleus (SCN) and peripheral clocks including the liver. We hypothesized that an environmental uncoupling of the light-dark phases, termed chronic circadian disruption (CCD), would lead to pathology similar to the genetic circadian disruption observed with loss of SRC-2 We found that CCD and ablation of SRC-2 in mice led to a common comorbidity of metabolic syndrome also found in humans with circadian disruption, non-alcoholic fatty liver disease (NAFLD). The combination of SRC-2(-/-) and CCD results in a more robust phenotype that correlates with human non-alcoholic steatohepatitis (NASH) and hepatocellular carcinoma (HCC) gene signatures. Either CCD or SRC-2 ablation produces an advanced aging phenotype leading to increased mortality consistent with other circadian mutant mouse models. Collectively, our studies demonstrate that SRC-2 provides an essential link between the behavioral activities influenced by light cues and the metabolic homeostasis maintained by the liver.

  1. ATM cash management using genetic algorithm

    Directory of Open Access Journals (Sweden)

    Ahmadreza Ghodrati

    2013-07-01

    Full Text Available Automatic teller machine (ATM is one of the most popular banking facilities to do daily financial transactions. People use ATM services to pay bills, transfer funds and withdraw cash. Therefore, we can treat ATM as a tradition inventory problem and use simulation technique to analysis the amount of cash required on different occasions such as regular days, holidays, etc. The proposed model of this paper uses genetic algorithm to determine the replenishment cash strategy for each ATM. The survey uses all transactions accomplished during the fiscal years of 2011-2012 on one of Iranian banks named Ayande. The study categorizes various ATM based on the average daily transactions into three groups of low, medium and high levels. The preliminary results of our survey indicate that it is possible to do setup different strategies to manage cash in various banks, optimally.

  2. Identification of management units using population genetic data

    NARCIS (Netherlands)

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

    2007-01-01

    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

  3. 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

  4. GAMPMS: Genetic algorithm managed peptide mutant screening.

    Science.gov (United States)

    Long, Thomas; McDougal, Owen M; Andersen, Tim

    2015-06-30

    The prominence of endogenous peptide ligands targeted to receptors makes peptides with the desired binding activity good molecular scaffolds for drug development. Minor modifications to a peptide's primary sequence can significantly alter its binding properties with a receptor, and screening collections of peptide mutants is a useful technique for probing the receptor-ligand binding domain. Unfortunately, the combinatorial growth of such collections can limit the number of mutations which can be explored using structure-based molecular docking techniques. Genetic algorithm managed peptide mutant screening (GAMPMS) uses a genetic algorithm to conduct a heuristic search of the peptide's mutation space for peptides with optimal binding activity, significantly reducing the computational requirements of the virtual screening. The GAMPMS procedure was implemented and used to explore the binding domain of the nicotinic acetylcholine receptor (nAChR) α3β2-isoform with a library of 64,000 α-conotoxin (α-CTx) MII peptide mutants. To assess GAMPMS's performance, it was compared with a virtual screening procedure that used AutoDock to predict the binding affinity of each of the α-CTx MII peptide mutants with the α3β2-nAChR. The GAMPMS implementation performed AutoDock simulations for as few as 1140 of the 64,000 α-CTx MII peptide mutants and could consistently identify a set of 10 peptides with an aggregated binding energy that was at least 98% of the aggregated binding energy of the 10 top peptides from the exhaustive AutoDock screening.

  5. Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma

    Science.gov (United States)

    Liu, Anqi; Wu, Meiling; Guo, Xiaohe; Guo, Hao; Zhou, Zhifei; Wei, Kewen; Xuan, Kun

    2017-01-01

    Abstract Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma. The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically. The micro-CT findings revealed that the primary tooth had three crowns with two separated pulp chambers, and their root canals were partially fused. The histological findings showed abnormal morphologies of odontoblasts and dentin, hyperplasia of enamel, and malformation of odontogenic epithelium. Furthermore, DNA sequencing and analyze of deafness associated gene GJB2, GJB3, and PDS had not revealed any SNP or mutation; but exon 3 of the causative gene FGF3 could not be amplified, which may be associated with the microdeletion at chromosome 11q13.3. Three month after surgery, the patient was found to be asymptomatic and even the evidence of the extra-oral sinus had disappeared. The dental abnormality of otodental syndrome included congenital missing teeth, globodontia, and multiple complex odontoma. Globodontia exhibited characteristic features of fusion teeth. In addition, gene FGF3 haploinsufficiency was likely to be the cause of otodental syndrome. The report provides some new information in the field of otodental syndrome, which would make dentists more familiar with this disease. PMID:28151902

  6. Combined endoscopic trephination and endoscopic frontal sinusotomy for management of complex frontal sinus pathology.

    Science.gov (United States)

    Batra, Pete S; Citardi, Martin J; Lanza, Donald C

    2005-01-01

    The advances in endoscopic sinus surgery have revolutionized the management of frontal sinus disease. Despite the successes, the purely endoscopic approach has its limitations, especially in patients with alterations in anatomy caused by previous surgical intervention or complex frontal sinus pneumatization patterns. The purpose of this study was to evaluate the efficacy of combined endoscopic trephination and endoscopic frontal sinusotomy (the above and below approach) in the management of these difficult cases. Chart review was performed on patients undergoing the combined approach from October 1999 to June 2004. Demographic data, symptomatology, comorbidity, previous surgery, and primary pathology were determined. Outcome was assessed based on subjective symptom relief and objective endoscopic patency. Twenty-two patients with a mean age of 49.2 years underwent the combined approach. The primary pathology included mucoceles (15 patients), frontal sinusitis (2 patients), inverted papilloma (2 patients), osteoma (1 patient), fibrous dysplasia (1 patient), and pneumocephalus (1 patient). A total of 25 above and below procedures (22 primary and 3 revision procedures) were performed to manage the pathology. Postoperatively, headaches resolved in 47%, improved in 35%, and remained unchanged in 18% of the patients. Orbital symptoms resolved in 63%, improved in 25%, and remained unchanged in 12% of the patients. Endoscopic patency of the frontal sinusotomy was confirmed in 19 of 22 cases (86%) at a mean follow-up of 16.2 months. Management of complex frontal sinus pathology may require adjunct approaches in conjunction to the standard endoscopic techniques. In this series, the above and below approach was used successfully in 22 patients. The combined approach may serve as an important adjunct for management of complex frontal sinus disease.

  7. 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.

  8. CURRENT CONCEPTS ON THE GENETIC FACTORS IN ROTATOR CUFF PATHOLOGY AND FUTURE IMPLICATIONS FOR SPORTS PHYSICAL THERAPISTS

    Science.gov (United States)

    Paré, Jessica; Froehlich, John E

    2017-01-01

    Context Recent advances within the field of genetics are currently changing many of the methodologies in which medicine is practiced. These advances are also beginning to influence the manner in which physical therapy services are rendered. Rotator cuff pathology is one of the most common diagnoses treated by the sports physical therapist. The purpose of this commentary is to educate sports physical therapists on the recent advances regarding how genetics influences rotator cuff pathology, including rotator cuff tears, and provide a perspective on how this information will likely influence post-operative shoulder rehabilitation in the near future. Evidence Acquisition A comprehensive review of the literature was completed using the Medline database along with individual searches of relevant physical therapy, surgical, cell biology, and sports medicine journals. Search terms included: shoulder, rotator cuff pathology, genetics, apoptosis, and physical therapy. Search results were compiled and evaluated; relevant primary studies and review articles were gathered; the results from this comprehensive review are summarized here. Study Design Clinical Commentary, Review of the Literature Results Recent advances within the understanding of rotator cuff pathology have further elucidated the cellular and molecular mechanisms associated with rotator cuff tears. There appears to be a hypoxic-induced apoptotic cellular pathway that contributes to rotator cuff tears. Activation of specific proteins termed matrix metalloproteinases appear to be involved in not only primary rotator cuff tears, but also may influence the re-tear rate after surgical intervention. Further advancements in the understanding of the cellular mechanisms contributing to rotator cuff tears and postoperative techniques to help prevent re-tears, may soon influence the methodology in which physical therapy services are provided to patients sustaining a rotator cuff injury. Conclusions At this time continued

  9. [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.

  10. 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.

  11. 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

  12. Impact of genetics on the clinical management of channelopathies.

    Science.gov (United States)

    Schwartz, Peter J; Ackerman, Michael J; George, Alfred L; Wilde, Arthur A M

    2013-07-16

    There are few areas in cardiology in which the impact of genetics and genetic testing on clinical management has been as great as in cardiac channelopathies, arrhythmic disorders of genetic origin related to the ionic control of the cardiac action potential. Among the growing number of diseases identified as channelopathies, 3 are sufficiently prevalent to represent significant clinical and societal problems and to warrant adequate understanding by practicing cardiologists: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. This review will focus selectively on the impact of genetic discoveries on clinical management of these 3 diseases. For each disorder, we will discuss to what extent genetic knowledge and clinical genetic test results modify the way cardiologists should approach and manage affected patients. We will also address the optimal use of genetic testing, including its potential limitations and the potential medico-legal implications when such testing is not performed. We will highlight how important it is to understand the ways that genotype can affect clinical manifestations, risk stratification, and responses to the therapy. We will also illustrate the close bridge between molecular biology and clinical medicine, and will emphasize that consideration of the genetic basis for these heritable arrhythmia syndromes and the proper use and interpretation of clinical genetic testing should remain the standard of care. Copyright © 2013. Published by Elsevier Inc.

  13. An interdisciplinary treatment to manage pathologic tooth migration: a clinical report.

    Science.gov (United States)

    Oh, Se-Lim

    2011-09-01

    Pathologic tooth migration (PTM) is a common symptom of periodontal disease and a motivation for the patient to seek dental therapy. The primary factors causing PTM are periodontitis and occlusal trauma. Comprehensive treatment for managing a moderate degree of PTM, including periodontal, orthodontic and prosthodontic treatment is described. Increasing the occlusal vertical dimension (OVD) with provisional restorations was attempted to create space for retracting maxillary flared teeth. Retraction and intrusion of maxillary flared incisors were achieved by a sectional orthodontic appliance. Splinted crowns from maxillary right lateral incisor to left lateral incisor were fabricated and connected to posterior prostheses by means of attachments to prevent relapse and to provide long-term stability.

  14. Imaging and image management: A survey on current outlook and awareness in pathology practice

    Directory of Open Access Journals (Sweden)

    M Indu

    2015-01-01

    Full Text Available Background: Flexibility of digital photography enables it to be an integral part of pathology practice. An assessment of guidelines of imaging is essential for proper usage of photographs. Objectives: The purpose of the study was to assess awareness of oral pathologists about various aspects of medical photography. Methods: Questionnaire based on the availability of facilities, usage, technical details and ethical issues of medical photography was sent to postgraduate students and teaching faculties of Oral Pathology in various localities in India. Results: Photographs were taken mostly for the purposes of publication, medical documentation and education. Significant number of postgraduate students and faculties of Oral Pathology didn′t receive any training or hadn′t gone through any publications/books (P = 0.000 about medical photography. Consent for patient photography was taken by significant number of respondents (P = 0.000 but in a verbal form. Majority of people used image editing software, but 19.0% of faculties and 21.1% of postgraduate students were unaware of deleterious effect of image editing. Firm and sensible instructions concerning image storage, sharing and accessibility were not yet created. Conclusion: This survey drew attention towards lack of proper understanding about the technical details, medical protocols and ethical issues related to medical photography. These findings recommend implementation of basic training for medical photography and policy for image management for students and faculties in every health care institution.

  15. Genetic Testing in the Multidisciplinary Management of Melanoma.

    Science.gov (United States)

    Rashid, Omar M; Zager, Jonathan S

    2015-10-01

    Melanoma is increasing in incidence and represents an aggressive type of cancer. Efforts have focused on identifying genetic factors in melanoma carcinogenesis to guide prevention, screening, early detection, and targeted therapy. This article reviews the hereditary risk factors associated with melanoma and the known molecular pathways and genetic mutations associated with this disease. This article also explores the controversies associated with genetic testing and the latest advances in identifying genetic targets in melanoma, which offer promise for future application in the multidisciplinary management of melanoma.

  16. Genomic Relatedness Strengthens Genetic Connectedness Across Management Units.

    Science.gov (United States)

    Yu, Haipeng; Spangler, Matthew L; Lewis, Ronald M; Morota, Gota

    2017-08-31

    Genetic connectedness refers to a measure of genetic relatedness across management units (e.g., herds and flocks). With the presence of high genetic connectedness in management units, best linear unbiased prediction (BLUP) is known to provide reliable comparisons between genetic values. Genetic connectedness has been studied for pedigree-based BLUP; however, relatively little attention has been paid to using genomic information to measure connectedness. In this study, we assessed genome-based connectedness across management units by applying prediction error variance of difference (PEVD), coefficient of determination (CD), and prediction error correlation (r) to a combination of computer simulation and real data (mice and cattle). We found that genomic information (G) increased the estimate of connectedness among individuals from different management units compared to that based on pedigree (A). A disconnected design benefited the most. In both datasets, PEVD and CD statistics inferred increased connectedness across units when using G- rather than A-based relatedness suggesting stronger connectedness. With r once using allele frequencies equal to one-half or scaling G to values between 0 and 2, which is intrinsic to A, connectedness also increased with genomic information. However, PEVD occasionally increased, and r decreased when obtained using the alternative form of G, instead suggesting less connectedness. Such inconsistencies were not found with CD. We contend that genomic relatedness strengthens measures of genetic connectedness across units and has the potential to aid genomic evaluation of livestock species. Copyright © 2017, G3: Genes, Genomes, Genetics.

  17. 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...

  18. How Are Genetic Conditions Treated or Managed?

    Science.gov (United States)

    ... University of Washington and the National Center for Biotechnology Information (NCBI), provides detailed information about the management ... consumer-friendly information about gene therapy , including safety, ethical issues, and availability. Information is also available about precision ...

  19. Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer's disease.

    Science.gov (United States)

    Kotze, Maritha J; van Rensburg, Susan J

    2012-09-01

    Chronic, multi-factorial conditions caused by a complex interaction between genetic and environmental risk factors frequently share common disease mechanisms, as evidenced by an overlap between genetic risk factors for cardiovascular disease (CVD) and Alzheimer's disease (AD). Single nucleotide polymorphisms (SNPs) in several genes including ApoE, MTHFR, HFE and FTO are known to increase the risk of both conditions. The E4 allele of the ApoE polymorphism is the most extensively studied risk factor for AD and increases the risk of coronary heart disease by approximately 40%. It furthermore displays differential therapeutic responses with use of cholesterol-lowering statins and acetylcholinesterase inhibitors, which may also be due to variation in the CYP2D6 gene in some patients. Disease expression may be triggered by gene-environment interaction causing conversion of minor metabolic abnormalities into major brain disease due to cumulative risk. A growing body of evidence supports the assessment and treatment of CVD risk factors in midlife as a preventable cause of cognitive decline, morbidity and mortality in old age. In this review, the concept of pathology supported genetic testing (PSGT) for CVD is described in this context. PSGT combines DNA testing with biochemical measurements to determine gene expression and to monitor response to treatment. The aim is to diagnose treatable disease subtypes of complex disorders, facilitate prevention of cumulative risk and formulate intervention strategies guided from the genetic background. CVD provides a model to address the lifestyle link in most chronic diseases with a genetic component. Similar preventative measures would apply for optimisation of heart and brain health.

  20. 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.

  1. Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features.

    Science.gov (United States)

    Tüfekçi, Özlem; Ören, Hale; Demir Yenigürbüz, Fatma; Gözmen, Salih; Karapınar, Tuba Hilkay; İrken, Gülersu

    2015-06-01

    Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches.

  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. Neoplastic diseases of the spermatic cord: an overview of pathological features, evaluation, and management

    Science.gov (United States)

    Dagur, Gautam; Gandhi, Jason; Kapadia, Kailash; Inam, Rafid; Smith, Noel L.; Joshi, Gargi

    2017-01-01

    Extracellular tumors found with the spermatic cord, known as neoplasms, are usually identified to be benign. However, the accurate and timely diagnosis of spermatic cord masses is highly crucial, especially when most results are often overlooked or unclear. In this review, we discuss the anatomy and embryology of the spermatic cord. Upon rooting these fundamental concepts, we discuss an array of benign and malignant neoplastic tumors, including their origin, pathological features, clinical evaluation and management, as well as other case-specific characteristics of unique presentation. Many of these neoplasms are based on local neurological, vascular, muscular, bone, soft tissue, or lymphatic origin, while others have metastasized from particular areas of the body. PMID:28217455

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

    Science.gov (United States)

    2016-07-01

    sclerosis. Our ongoing study has identified two genes, fft3 (a SMARCAD1 family ATP -dependent DNA helicase) and ypa1 (protein phosphatase type 2A...TERMS Tuberous Sclerosis, Genetic Buffering, Fission Yeast, Recombinase-Mediated Cassette Exchange, protein phosphatase type 2A regulator, ATP -dependent...identified two genes, fft3 (encoding a SMARCAD1 family ATP -dependent DNA helicase) and ypa1 (encoding a PTPA family protein phosphatase regulator) as

  5. Clinical, pathological and genetic study of a kindred of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

    Institute of Scientific and Technical Information of China (English)

    FENG Yan-qing; GUO Ning; HUANG Fan; LI Ling; YAO Xiao-li; LI Xun-hua; ZHANG Cheng; LIANG Xiu-ling

    2005-01-01

    @@ The first description of a syndrome including stroke-like episodes, lactic acidaemia, and ragged red fibres, was reported by Shapira et al in 1975.1 Pavlakis et al2 described further cases, introduced the acronym MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes), and suggested that this represented a distinct mitochondrial disease phenotype. In 1990, Goto et al3 identified A3243G mutation in the transfer RNA (tRNA) leucine (UUR) gene in some patients with MELAS. Although this mutation has now been established to be the commonest mtDNA defect it is often misdiagnosed. Here we report a kindred of MELAS including a mother and a son. Clinical, pathological and genetic studies are proceeding.

  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. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features.

    Science.gov (United States)

    Gaidzik, V I; Teleanu, V; Papaemmanuil, E; Weber, D; Paschka, P; Hahn, J; Wallrabenstein, T; Kolbinger, B; Köhne, C H; Horst, H A; Brossart, P; Held, G; Kündgen, A; Ringhoffer, M; Götze, K; Rummel, M; Gerstung, M; Campbell, P; Kraus, J M; Kestler, H A; Thol, F; Heuser, M; Schlegelberger, B; Ganser, A; Bullinger, L; Schlenk, R F; Döhner, K; Döhner, H

    2016-11-01

    We evaluated the frequency, genetic architecture, clinico-pathologic features and prognostic impact of RUNX1 mutations in 2439 adult patients with newly-diagnosed acute myeloid leukemia (AML). RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR. RUNX1 mutations were associated with older age (16-59 years: 8.5%; ⩾60 years: 15.1%), male gender, more immature morphology and secondary AML evolving from myelodysplastic syndrome. In univariable analyses, RUNX1 mutations were associated with inferior event-free (EFS, P<0.0001), relapse-free (RFS, P=0.0007) and overall survival (OS, P<0.0001) in all patients, remaining significant when age was considered. In multivariable analysis, RUNX1 mutations predicted for inferior EFS (P=0.01). The effect of co-mutation varied by partner gene, where patients with the secondary genotypes RUNX1(mut)/ASXL1(mut) (OS, P=0.004), RUNX1(mut)/SRSF2(mut) (OS, P=0.007) and RUNX1(mut)/PHF6(mut) (OS, P=0.03) did significantly worse, whereas patients with the genotype RUNX1(mut)/IDH2(mut) (OS, P=0.04) had a better outcome. In conclusion, RUNX1-mutated AML is associated with a complex mutation cluster and is correlated with distinct clinico-pathologic features and inferior prognosis.

  8. Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling: focus on fetal pathology.

    Science.gov (United States)

    Joó, József Gábor; Csaba, Ákos; Szigeti, Zsanett; Rigó, János

    2013-07-01

    Cases of spina bifida alone and in association with ventriculomegaly represent important but different malformations according to clinical characteristics. In our study, we analyzed the data on pregancies terminated because of isolated cases (n=307) and ventriculomegaly-associated cases (n=372) of spina bifida. In spina bifida cases in association with hydrocephalus, positive obstetric history was found approximately 1.5 times more frequently than in the isolated ones. The incidence of positive genetic history was nearly two-fold in the latter cases. In isolated cases of spina bifida, associated malformations were more common than in cases of spina bifida and ventriculomegaly together. The most frequent associated malformations were those of the urogenital system (in cases of spina bifida: 11.1%; in cases of SB+V: 9.14%). The risk of recurrence of SB+V is significantly higher than that of isolated SB (8.9% vs. 2.1%). It can be concluded that positive genetic history is more common in cases of isolated spina bifida. Malformations out of the nervous system are more commonly observed in cases of isolated spina bifida. During the prenatal diagnostics of spina bifida, sonography must focus on malformations of the urogenital system.

  9. Strategies for management of animal genetic resources in Uganda

    African Journals Online (AJOL)

    Mo

    production level will be much higher in the developed countries (Delgado et al. 1999). ... farm animal genetic resources (AnGR) of major economic value comprised 6.3 million ... development of strategies for prudent management of AnGR and for a ... drain on the balance of terms of trade already weakened by declines in ...

  10. 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.

  11. Epidemiology, pathology, and genetics of histiocytic sarcoma in the Bernese mountain dog breed.

    Science.gov (United States)

    Abadie, Jérôme; Hédan, Benoit; Cadieu, Edouard; De Brito, Clotilde; Devauchelle, Patrick; Bourgain, Catherine; Parker, Heidi G; Vaysse, Amaury; Margaritte-Jeannin, Patricia; Galibert, Francis; Ostrander, Elaine A; André, Catherine

    2009-01-01

    Histiocytic sarcoma (HS) refers to a highly aggressive and frequently disseminated neoplastic disease belonging to the class of canine histiocytic proliferative disorders. Disseminated HS (previously called malignant histiocytosis) is highly breed specific, with Bernese mountain dogs (BMDs), rottweilers, and retrievers having a high prevalence with a frequency of approximately 25% in the BMD breed. We collected DNA samples and clinical information from 800 BMDs, of which 200 are affected by HS. To better characterize the physiopathology and epidemiology, an in-depth analysis of 89 BMD cases has been performed. The mean age of onset was 6.5 years, males and females being equally affected. The clinical features, biochemical parameters, and pathological features have been determined. The life span after diagnosis has been estimated to be 49 days. A large BMD pedigree of 327 dogs, 121 of which are affected, was assembled. Using a subset of 160 BMDs, encompassing 21 complete sibships, we now propose an oligogenic transmission mode of the disease. Whole-genome linkage scans as well as association studies using a case/control analysis, in parallel with expression profiling of neoplastic versus normal histiocytes, are all underway. Altogether, these complementary approaches are expected to localize the genes for HS in the BMD, leading to advances in our knowledge of histiocyte diseases in dogs and humans.

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

    Science.gov (United States)

    Faita, Francesca; Cori, Liliana; Bianchi, Fabrizio; Andreassi, Maria Grazia

    2013-01-01

    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. PMID:23583964

  13. 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.

  14. 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.

  15. Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.

    Science.gov (United States)

    Bacigaluppi, S; Retta, S F; Pileggi, S; Fontanella, M; Goitre, L; Tassi, L; La Camera, A; Citterio, A; Patrosso, M C; Tredici, G; Penco, S

    2013-01-01

    Cerebral cavernous malformations (CCMs) are a diffuse cerebrovascular disease affecting approximately 0.5% of the population. A CCM is characterized by abnormally enlarged and leaky capillaries arranged in mulberry-like structures with no clear flow pattern. The lesion might predispose to seizures, focal neurological deficits or fatal intracerebral hemorrhage. However, a CCM can also remain neurologically silent. It might either occur sporadically or as an inherited disorder with incomplete penetrance and variable expressivity. Due to advances in imaging techniques, the incidence of CCM diagnoses are increasing, and the patient must be managed on a multidisciplinary basis: genetic counselling, treatment if needed, and follow-up. Advances have been made using radiological and pathological correlates of CCM lesions adding to the accumulated knowledge of this disease, although management of these patients is very variable among centers. This review is aimed at providing an update in genetic and molecular insights of this condition. Included are implications for genetic counselling, and possible approaches to prevention and treatment that derive from the understanding of pathogenetic mechanisms. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

  16. Genetic determinants and clinico-pathological outcomes of helicobacter pylori infection.

    Science.gov (United States)

    Oluwasola, A O

    2014-06-01

    Helicobacter pylori is a spiral Gram-negative bacterium with a relatively small genome and is known to be the most common human bacterial infection worldwide, infecting about half of the world's population. The bacterium represents one of the most successful human pathogens, inducing severe clinical symptoms only in a small subset of individuals, thus signifying a highly balanced degree of co-evolution of H. pylori and humans. The prevalence of Helicobacter pylori infection varies greatly among countries and among population groups within the same country, but is falling in most developed countries. The clinical course of H. pylori infection is highly variable and is influenced by both microbial and host factors including genetic susceptibility while the pattern and distribution of inflammation correlate strongly with the risk of clinical sequelae, namely duodenal or gastric ulcers, mucosal atrophy, gastric carcinoma, or gastric lymphoma. Cytokine gene polymorphisms directly influence inter-individual variation in the magnitude of cytokine response, and this clearly contributes to an individual's ultimate clinical outcome. Polymorphisms in genes coding for innate immune factors have also been incriminated in the pathogenesis of H. pylori related disease, while promoter hypermethylation of tumor suppressor genes is considered an important factor in carcinogenesis and known to be present in H. pylori associated gastric tumors. Functional genomics may fill many of the gaps in our understanding of the pathogenesis of H. pylori infection and accelerate the development of novel therapies, including H. pylori specific antimicrobial agents.

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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.

  2. UNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODS

    Directory of Open Access Journals (Sweden)

    Livia Kotysova

    2014-01-01

    Full Text Available Prader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the PWS/AS critical domain. Apart from unifying methylation-specific PCR and allele specific real-time PCR with melt-curve analysis as the fundamental methods for suspected diagnosis confirmation, we combined several specifically methods used to clarify the molecular cause. In our study we had identified and genotyped 24 PWS and AS patients from 450 suspected. Applied cluster of methods-microsatellite analysis of SNPs within the chromosome 15, Methylation-specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA and UBE3A gene sequence analysis, enable us to determined atypical deletion that does not include common breakpoints, novel highly likely to be pathologic UBE3A mutation, uniparental heterodisomy together with partial isodisomy and epimutation without any deletions in the imprinting centre. We present genotype-phenotype correlation of all positive cases. In addition, we estimate the incidence for Slovakian population at 1 in 20,000 for PWS and 1 in 40,000 for AS.

  3. 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.

  4. Aggressive and malignant prolactin pituitary tumors: pathological diagnosis and patient management.

    Science.gov (United States)

    Zemmoura, Ilyess; Wierinckx, Anne; Vasiljevic, Alexandre; Jan, Michel; Trouillas, Jacqueline; François, Patrick

    2013-12-01

    According to the World Health Organization classification of pituitary tumors, only tumors with systemic metastasis must be considered as carcinomas. Invasive tumors with multiple recurrences are only classified as aggressive tumors or "atypical adenomas". To illustrate the problems encountered in the pathological diagnosis of pituitary carcinoma and in patient management, we present two male patients operated on for an aggressive prolactin pituitary adenoma with and without metastasis. In case 1, 5 surgeries, 3 irradiations, increased doses of dopamine agonists, and trials of temozolomide and carboplatine-VP16 failed to control tumor progression and the appearance of metastases which lead to death 16 years after onset. In case 2, based on the initial diagnosis of an aggressive-invasive adenoma that was resistant to dopamine agonists, gamma-Knife irradiation was initially performed on the intra-cavernous remnant. Eight years after onset, the remnant remained stabilized and the plasma PRL normalized under dopamine agonist. From these 2 cases alongside other cases found in the literature, we propose that the association of certain clinical signs (male sex, dopamine-resistant hyperprolactinemia), radiological signs (invasive macro or giant tumor on MRI) and histological signs (angiogenesis, Ki-67 > 3%, p53 positive, mitoses >2 per high power field, vascular invasion, up-regulation of genes related to invasion and proliferation, and allelic loss of chromosome 11) might suggest aggressiveness and be suspicious of malignancy before the appearance of metastasis. The early detection of an aggressive phenotype of a prolactin pituitary tumor should permit the earlier establishment of the optimum therapeutic strategy associating surgery and radiotherapy to delay or inhibit metastasis.

  5. Inguinoscrotal pathology

    Science.gov (United States)

    Guerra, Luis; Leonard, Michael

    2017-01-01

    Infants, children, and adolescents with inguinoscrotal pathology comprise a significant proportion of emergency department and outpatient visits. Visits to the emergency department primarily comprise individuals presenting with scrotal pain due to testicular torsion or torsion of the testicular appendages. At such time, immediate urological consultation is sought. Outpatient visits comprise those individuals with undescended testes, hydroceles, and varicoceles. Rare, but important problems, such as pediatric testicular tumours, may also present in the office setting. Many of these outpatient visits are to primary care physicians, who should have an appreciation of the timing and need for referral. The purpose of this review is to familiarize the general urologist and primary care physician with these varied pathologies and give insight into their assessment and management. Some of these same conditions are seen in adult patients, but there are some significant differences in their management in the pediatric group. In addition, the utility of imaging studies, such as ultrasound, are discussed within each pathological entity. It is hoped that this overview will assist our general urology and primary care colleagues in patient management for diverse inguinoscrotal pathologies. PMID:28265317

  6. Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report.

    Science.gov (United States)

    Liu, Anqi; Wu, Meiling; Guo, Xiaohe; Guo, Hao; Zhou, Zhifei; Wei, Kewen; Xuan, Kun

    2017-02-01

    Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma.The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically. The micro-CT findings revealed that the primary tooth had three crowns with two separated pulp chambers, and their root canals were partially fused. The histological findings showed abnormal morphologies of odontoblasts and dentin, hyperplasia of enamel, and malformation of odontogenic epithelium. Furthermore, DNA sequencing and analyze of deafness associated gene GJB2, GJB3, and PDS had not revealed any SNP or mutation; but exon 3 of the causative gene FGF3 could not be amplified, which may be associated with the microdeletion at chromosome 11q13.3. Three month after surgery, the patient was found to be asymptomatic and even the evidence of the extra-oral sinus had disappeared.The dental abnormality of otodental syndrome included congenital missing teeth, globodontia, and multiple complex odontoma. Globodontia exhibited characteristic features of fusion teeth. In addition, gene FGF3 haploinsufficiency was likely to be the cause of otodental syndrome. The report provides some new information in the field of otodental syndrome, which would make dentists more familiar with this disease.

  7. Towards a durable management of genetic resistances to Leptosphaeria maculans

    Directory of Open Access Journals (Sweden)

    Pinochet Xavier

    2003-05-01

    Full Text Available Blackeg is the major disease of winter oilseed rape in France. For an efficient control of the disease several tools could be combined, but mainly plant breeding has been used to increase winter oilseed rape resistance to blackleg. A useful step was reached in the nineties, using a specific resistance gene (Rlm1. After being widely used this resistance was broken down by an increase of the virulent sub-populations of the fungus. Such a situation worried the different actors and raised the question of the promotion of a durable management of genetic resistances to Leptosphaeria. After a synthetic presentation of the state of the art in the fields of genetics of resistance, of Leptosphaeria populations and on agronomic practices able to control the pathogen, the promotion of a durable management of resistances is discussed. This target needs to precise the strategy, to improve methodologies to characterise genotypes, to promote proper agronomic practices, to follow Leptosphaeria population behaviour and to motivate economic actors.

  8. Impact of molecular genetics on congenital adrenal hyperplasia management.

    Science.gov (United States)

    Balsamo, A; Baldazzi, L; Menabò, S; Cicognani, A

    2010-09-01

    Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90-95% of all CAH cases, and its biochemical and clinical severity depends on the underlying CYP21A2 gene disruption. Molecular genetic advancements have been achieved in recent years, and the aim of this review is to attempt to highlight its contribution to the comprehension and management of the disease. When possible, we will try to achieve this goal also by providing some results from our personal experience regarding: some aspects of CYP21A2 gene analysis, with basic genotype/phenotype relationships; its crucial role in both genetic counselling and in prenatal diagnosis and treatment in families at risk for 21-OHD; its help in the comprehension of the severity of the disease in patients diagnosed by neonatal screening and possibly treated before an evident salt-loss crisis or before performing adequate blood sampling; its usefulness in the definition of post ACTH 17-hydroxyprogesterone values, discriminating between non-classic, heterozygote and normal subjects; and finally the contribution of genes other than CYP21A2 whose function or dysfunction could influence 21-hydroxylase activity and modify the presentation or management of the disease.

  9. 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.

  10. The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.

    Science.gov (United States)

    Balcom, Jessica R; Kotzer, Katrina E; Waltman, Lindsey A; Kemppainen, Jennifer L; Thomas, Brittany C

    2016-10-01

    Ethical dilemmas are encountered commonly in the setting of the clinical genetic testing laboratory due to the complexity of genetic testing and the number of relevant stakeholders involved in the genetic testing process. Based on their clinical training and role within the laboratory, genetic counselors are uniquely equipped to identify and facilitate management of ethical dilemmas. This paper reviews the historical context of ethical theory and its application to the field of genetic counseling. Theoretical and applied ethics are explored in the context of dilemmas arising in the laboratory setting, with a focus on the role of the laboratory genetic counselor in managing ethical dilemmas. Two illustrative case examples are provided.

  11. Combined TRPC3 and TRPC6 blockade by selective small-molecule or genetic deletion inhibits pathological cardiac hypertrophy.

    Science.gov (United States)

    Seo, Kinya; Rainer, Peter P; Shalkey Hahn, Virginia; Lee, Dong-Ik; Jo, Su-Hyun; Andersen, Asger; Liu, Ting; Xu, Xiaoping; Willette, Robert N; Lepore, John J; Marino, Joseph P; Birnbaumer, Lutz; Schnackenberg, Christine G; Kass, David A

    2014-01-28

    Chronic neurohormonal and mechanical stresses are central features of heart disease. Increasing evidence supports a role for the transient receptor potential canonical channels TRPC3 and TRPC6 in this pathophysiology. Channel expression for both is normally very low but is increased by cardiac disease, and genetic gain- or loss-of-function studies support contributions to hypertrophy and dysfunction. Selective small-molecule inhibitors remain scarce, and none target both channels, which may be useful given the high homology among them and evidence of redundant signaling. Here we tested selective TRPC3/6 antagonists (GSK2332255B and GSK2833503A; IC50, 3-21 nM against TRPC3 and TRPC6) and found dose-dependent blockade of cell hypertrophy signaling triggered by angiotensin II or endothelin-1 in HEK293T cells as well as in neonatal and adult cardiac myocytes. In vivo efficacy in mice and rats was greatly limited by rapid metabolism and high protein binding, although antifibrotic effects with pressure overload were observed. Intriguingly, although gene deletion of TRPC3 or TRPC6 alone did not protect against hypertrophy or dysfunction from pressure overload, combined deletion was protective, supporting the value of dual inhibition. Further development of this pharmaceutical class may yield a useful therapeutic agent for heart disease management.

  12. Management of pathological femoral fracture secondary to breast cancer in pregnancy: A case report

    OpenAIRE

    Ciavattini, Andrea; Mancioli, Francesca; PACI, ENRICO; POLITANO, ROCCO

    2015-01-01

    Bone metastasis resulting from breast cancer in pregnancy is rare. In the literature there are few reports regarding osteolytic lesions in pregnancy and no data on the treatment of such femoral fractures. The present study reports a case of a 29-week primigravida presenting with severe lumbosciatica in the left side, refractory to medical therapy. During neurosurgical examination a spontaneous pathological fracture of the left femur occurred. Damage control orthopedic principals were applied ...

  13. "Double bubble" deep anterior lamellar keratoplasty for management of corneal stromal pathologies.

    Science.gov (United States)

    Jhanji, Vishal; Beltz, Jacqueline; Sharma, Namrata; Graue, Enrique; Vajpayee, Rasik B

    2011-08-01

    'Big Bubble' deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplantation technique for keratoconus and other anterior stromal corneal pathologies that spare the Descemet's membrane (DM) and endothelium. However, it is not always possible to conclusively recognise formation and identification of the 'Big Bubble'. We describe the surgical technique of DALK called 'Double Bubble' technique that allows the surgeon to definitely and immediately identify the formation of an adequate big bubble. DALK was performed using the 'Double Bubble' technique in twelve eyes of twelve patients with corneal stromal pathologies (keratoconus, 9 eyes; macular corneal dystrophy, 2 eyes; postinfectious keratitis corneal stromal scar, 1 eye) at the Royal Victorian Eye and Ear Hospital, Melbourne. Big bubble was successfully formed in 10 eyes. Maximum-depth deep lamellar keratoplasty was performed in two eyes. There were no instances of intraoperative perforation of the DM. All grafts were clear at last follow-up. Best-corrected visual acuity of ≥20/40 was achieved in all the cases at last follow-up (6-12 months). 'Double Bubble' DALK helps in identification of the big bubble and has the potential to increase the success of standard 'Big Bubble' DALK in patients with corneal stromal pathologies sparing the DM and endothelium.

  14. 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

  15. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Science.gov (United States)

    Richards, Sue; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne W; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi L

    2015-05-01

    The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.(1) In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing. By adopting and leveraging next-generation sequencing, clinical laboratories are now performing an ever-increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes, and epigenetic assays for genetic disorders. By virtue of increased complexity, this shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context the ACMG convened a workgroup in 2013 comprising representatives from the ACMG, the Association for Molecular Pathology (AMP), and the College of American Pathologists to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP, and College of American Pathologists stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. This report recommends the use of specific standard terminology-"pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign"-to describe variants identified in genes that cause Mendelian disorders. Moreover, this recommendation describes a process for classifying variants into these five categories based on criteria using typical types of variant evidence (e.g., population data, computational data, functional data, segregation data). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a

  16. Pathologic changes associated with suspected hypovitaminosis A in amphibians under managed care.

    Science.gov (United States)

    Rodríguez, Carlos E; Pessier, Allan P

    2014-01-01

    Vitamin A deficiency is a recently recognized nutritional disease in amphibians fed insect-based diets. The classic pathologic lesion that has been associated with hypovitaminosis A in amphibians is squamous metaplasia of the lingual and oral mucosa. In an attempt to further characterize the range of lesions that may be associated with vitamin A deficiency, we reviewed archived amphibian necropsy reports from three facilities. As previously reported, the tongue was the most commonly affected site in animals presenting with squamous metaplasia. However, metaplastic changes were also observed in a variety of locations that included the oral cavity, nasal cavity, pharynx, esophagus, stomach, cloaca, skin, urinary bladder, ureter, and reproductive tract. In addition, species and age-specific differences were noted in the development of squamous metaplasia. This review highlights the need to establish standardized guidelines for optimal postmortem tissue sampling of amphibians in order to maximize the accurate diagnosis of pathologic lesions that may be associated with hypovitaminosis A. Zoo Biol. 33:508-515, 2014. © 2014 Wiley Periodicals Inc.

  17. 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...

  18. Conservation of forest genetic resources and sustainable forest management in Europe

    NARCIS (Netherlands)

    Koskela, J.; Vries, de S.M.G.; Gil, L.; Mátyás, C.; Rusanen, M.; Paule, L.

    2004-01-01

    Considerable efforts have been made to enhance conservation of forest genetic resources and to promote sustainable forest management in Europe over the past decade. The need to enhance genetic conservation emerged from a concern about the impacts of environmental pollution and genetic erosion on for

  19. Conservation of forest genetic resources and sustainable forest management in Europe

    NARCIS (Netherlands)

    Koskela, J.; Vries, de S.M.G.; Gil, L.; Mátyás, C.; Rusanen, M.; Paule, L.

    2004-01-01

    Considerable efforts have been made to enhance conservation of forest genetic resources and to promote sustainable forest management in Europe over the past decade. The need to enhance genetic conservation emerged from a concern about the impacts of environmental pollution and genetic erosion on

  20. 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.

  1. Sex and the single squirrel: a genetic view of forest management in the Pacific Northwest.

    Science.gov (United States)

    Sally. Duncan

    2003-01-01

    Forest management throughout the world is producing simplified forests. There is growing concern that these forests maintain neither complete vertebrate communities nor conditions favorable to maintenance of genetic diversity of those vertebrate populations that do find habitat in simply structured stands. Genetics is increasingly being used as a basis for management...

  2. 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.

  3. 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....

  4. Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.

    Science.gov (United States)

    Peraita-Ezcurra, Milena; Martínez-García, Mónica; Ruiz-Pérez, Víctor L; Sánchez-Gutiérrez, María Eugenia; Fenollar-Cortés, María; Vélez-Monsalve, Camilo; Ramos-Corrales, Carmen; Pastor, Ignacio; Santonja, Carlos; Trujillo-Tiebas, María José

    2012-05-10

    Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.

  5. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin.

    Science.gov (United States)

    Pietrangelo, Antonello

    2015-10-01

    The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research and discoveries in the iron field have dramatically changed our understanding of human disorders of iron metabolism. Today, hereditary hemochromatosis, the paradigmatic iron-loading disorder, is recognized as an endocrine disease due to the genetic loss of hepcidin, the iron hormone produced by the liver. This syndrome is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs. It is caused by mutations that affect any of the proteins that help hepcidin to monitor serum iron, including HFE and, in rarer instances, transferrin-receptor 2 and hemojuvelin, or make its receptor ferroportin, resistant to the hormone. In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified. HFE gene testing can be used to diagnose hemochromatosis in symptomatic patients, but analyses of liver histology and full gene sequencing are required to identify patients with rare, non-HFE forms of the disease. Due to the central pathogenic role of hepcidin, it is anticipated that nongenetic causes of hepcidin loss (eg, end-stage liver disease) can cause acquired forms of hemochromatosis. The mainstay of hemochromatosis management is still removal of iron by phlebotomy, first introduced in 1950s, but identification of hepcidin has not only shed new light on the pathogenesis of the disease and the approach to diagnosis, but etiologic therapeutic applications from these advances are now foreseen.

  6. 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...

  7. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Bonner, K.; Siegel, K.R.

    1988-04-01

    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/sub 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.

  9. Role of phenotypic and genetic testing in managing clopidogrel therapy.

    Science.gov (United States)

    Chan, Noel C; Eikelboom, John W; Ginsberg, Jeffrey S; Lauw, Mandy N; Vanassche, Thomas; Weitz, Jeffrey I; Hirsh, Jack

    2014-07-31

    The P2Y12 inhibitors, clopidogrel, prasugrel, and ticagrelor, are administered in fixed doses without laboratory monitoring. Randomized trials in acute coronary syndrome have shown that prasugrel and ticagrelor are more effective than standard-dose clopidogrel. Nonetheless, standard-dose clopidogrel remains widely used because it causes less bleeding and is less expensive. Patients treated with standard-dose clopidogrel have substantial variability in platelet inhibition, which is partly explained by genetic polymorphisms encoding CYP2C19, the hepatic enzyme involved in biotransformation of clopidogrel to its active metabolite. Some advocate tailoring P2Y12 inhibitor therapy according to the results of routine laboratory testing. Although there is good evidence for analytic, biological, and clinical validity of several phenotypic and genotypic biomarkers, the benefit of a management strategy that incorporates routine biomarker testing over standard of care without such testing remains unproven. Appropriately designed, adequately powered trials are needed but face the challenges of feasibility, cost, and the progressive switch from clopidogrel to prasugrel or ticagrelor.

  10. Management of pathological femoral fracture secondary to breast cancer in pregnancy: A case report.

    Science.gov (United States)

    Ciavattini, Andrea; Mancioli, Francesca; Paci, Enrico; Politano, Rocco

    2016-01-01

    Bone metastasis resulting from breast cancer in pregnancy is rare. In the literature there are few reports regarding osteolytic lesions in pregnancy and no data on the treatment of such femoral fractures. The present study reports a case of a 29-week primigravida presenting with severe lumbosciatica in the left side, refractory to medical therapy. During neurosurgical examination a spontaneous pathological fracture of the left femur occurred. Damage control orthopedic principals were applied and a biopsy specimen from the femoral lesion was obtained, providing a diagnosis of metastases from breast adenocarcinoma. Cesarean section was performed at 32 gestational weeks. Following delivery, an internal fixator was placed in the left femur for definitive treatment of the fracture and staging of cancer was conducted. Subsequently, adjuvant treatment comprising left mastectomy and percutaneous radiofrequency thermoablation of the sacroiliac lesion were performed. A follow-up one-year following percutaneous radiofrequency thermoablation of the sacroiliac lesion detected no metastatic bone pain, and identified a stable sacroiliac lesion.

  11. 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

  12. 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.

  13. Clinico-pathology, diagnosis and management of Cysticercus fasciolaris and Hymenolepis diminuta co-infection in wistar rats

    Directory of Open Access Journals (Sweden)

    Y. Damodar Singh

    2015-01-01

    Full Text Available Aim: The present study was undertaken to study the pathology and control of sudden unexplained mortality in wistar rats. Materials and Methods: This study was conducted in a colony of 25 male wistar rats where there was mortality of nine rats. The dead rats were subjected to thorough post-mortem examination and necropsy samples were processed for hematoxylin and eosin staining for histopathological studies. Faecal samples of live rats were studied for the presence of parasitic eggs. Treatment with anthelmintics was given to manage the mortality and infections. Results: The investigation revealed a natural co-infection of Cysticercus fasciolaris and Hymenolepis diminuta in wistar rats, which were pathogenic enough to cause mortality. Typical lesions associated with the parasites were found in the dead rats. The mortality and infection were managed with common anthelmintics. Conclusion: C. fasciolaris and H. diminuta infection can cause mortality in wistar rats even when individually they cause asymptomatic infection. The mortality and infection can be managed with common anthelmintics.

  14. Clinico-pathology, diagnosis and management of Cysticercus fasciolaris and Hymenolepis diminuta co-infection in wistar rats

    Science.gov (United States)

    Singh, Y. Damodar; Arya, Rahul Singh

    2015-01-01

    Aim: The present study was undertaken to study the pathology and control of sudden unexplained mortality in wistar rats. Materials and Methods: This study was conducted in a colony of 25 male wistar rats where there was mortality of nine rats. The dead rats were subjected to thorough post-mortem examination and necropsy samples were processed for hematoxylin and eosin staining for histopathological studies. Faecal samples of live rats were studied for the presence of parasitic eggs. Treatment with anthelmintics was given to manage the mortality and infections. Results: The investigation revealed a natural co-infection of Cysticercus fasciolaris and Hymenolepis diminuta in wistar rats, which were pathogenic enough to cause mortality. Typical lesions associated with the parasites were found in the dead rats. The mortality and infection were managed with common anthelmintics. Conclusion: C. fasciolaris and H. diminuta infection can cause mortality in wistar rats even when individually they cause asymptomatic infection. The mortality and infection can be managed with common anthelmintics. PMID:27047007

  15. 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

  16. Prediction of the Pathologic Gleason Score to Inform a Personalized Management Program for Prostate Cancer.

    Science.gov (United States)

    Coley, R Yates; Zeger, Scott L; Mamawala, Mufaddal; Pienta, Kenneth J; Carter, H Ballentine

    2017-07-01

    Active surveillance (AS) is an alternative to curative intervention, but overtreatment persists. Imperfect alignment of prostate biopsy and Gleason score after radical prostatectomy (RP) may be a contributing factor. To develop a statistical model that predicts the post-RP Gleason score (pathologic Gleason score [PGS]) using clinical observations made in the course of AS. Repeated prostate-specific antigen measurements and biopsy Gleason scores from 964 very low-risk patients in the Johns Hopkins Active Surveillance cohort were used in the analysis. PGS observations from 191 patients who underwent RP were also included. A Bayesian joint model based on accumulated clinical data was used to predict PGS in these categories: 6 (grade group 1), 3+4 (grade group 2), 4+3 (grade group 3), and 8-10 (grade groups 4 and 5). The area under the receiver operating characteristic curve (AUC) and calibration of predictions was assessed in patients with post-RP Gleason score observations. The estimated probability of harboring a PGS >6 was 6 was 0.74 (95% confidence interval, 0.66-0.81), and the mean absolute error was 0.022. Although the model requires external validation prior to adoption, PGS predictions can be used in AS to inform decisions regarding follow-up biopsies and remaining on AS. Predictions can be updated as additional data are observed. The joint modeling framework also accommodates novel biomarkers as they are identified and measured on AS patients. Measurements taken in the course of active surveillance can be used to accurately predict patients' underlying prostate cancer status. Predictions can be communicated to patients via a decision support tool and used to guide clinical decision making and reduce patient anxiety. Copyright © 2016 European Association of Urology. Published by Elsevier B.V. All rights reserved.

  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. [Prostatic Stromal Tumors of Uncertain Malignant Potential (STUMP): definition, pathology, prognosis and management].

    Science.gov (United States)

    Michaud, S; Moreau, A; Braud, G; Renaudin, K; Branchereau, J; Bouchot, O; Rigaud, J

    2012-10-01

    Prostatic Stromal Tumors of Uncertain Malignant Potential (STUMP) are rare tumor of the prostate of mesenchymal origin, accounting, with sarcoma for 0.1-0.2% of all malignant prostatic tumours. They however require to be individualized, to differentiate it from a benign prostatic hyperplasia or a sarcoma of the prostate. The therapeutic management should be made keeping in mind the risk of degeneration towards a malignant shape. Although the appropriate treatment is unknown, radical prostatectomy seem to be the treatment of reference, especially for young patient or for extensive lesion.

  19. Diabetes Pathology and Risk of Primary Open-Angle Glaucoma: Evaluating Causal Mechanisms by Using Genetic Information.

    Science.gov (United States)

    Shen, Ling; Walter, Stefan; Melles, Ronald B; Glymour, M Maria; Jorgenson, Eric

    2016-01-15

    Although type 2 diabetes (T2D) predicts glaucoma, the potential for unmeasured confounding has hampered causal conclusions. We performed separate sample genetic instrumental variable analyses using the Genetic Epidemiology Research Study on Adult Health and Aging cohort (n = 69,685; 1995-2013) to estimate effects of T2D on primary open-angle glaucoma (POAG; 3,554 cases). Genetic instrumental variables for overall and mechanism-specific (i.e., linked to T2D via influences on adiposity, β-cell function, insulin regulation, or other metabolic processes) T2D risk were constructed by using 39 genetic polymorphisms established to predict T2D in other samples. Instrumental variable estimates indicated that T2D increased POAG risk (odds ratio = 2.53, 95% confidence interval: 1.04, 6.11). The instrumental variable for β-cell dysregulation also significantly predicted POAG (odds ratioβ-cell = 5.26, 95% confidence interval: 1.75, 15.85), even among individuals without diagnosed T2D, suggesting that metabolic dysregulation may increase POAG risk prior to T2D diagnosis. The T2D risk variant in the melatonin receptor 1B gene (MTNR1B) predicted risk of POAG independently of T2D status, indicating possible pleiotropic physiological functions of melatonin, but instrumental variable effect estimates were significant even excluding MTNR1B variants. To our knowledge, this is the first genetic instrumental variable study of T2D and glaucoma, providing a novel approach to evaluating this hypothesized relationship. Our findings substantially bolster observational evidence that T2D increases POAG risk.

  20. Non-allergic rhinitis in children: Epidemiological aspects, pathological features, diagnostic methodology and clinical management.

    Science.gov (United States)

    Poddighe, Dimitri; Gelardi, Matteo; Licari, Amelia; Del Giudice, Michele Miraglia; Marseglia, Gian Luigi

    2016-12-26

    Chronic rhinitis is a very common disease, as the prevalence in the general population resulted to be 40%. Allergic rhinitis has been considered to be the most frequent form of chronic rhinitis, as non-allergic rhinitis has been estimated to account for 25%. However, several evidences suggested that non-allergic rhinitis have been underrated, especially in children. In pediatrics, the diagnostic definition of non-allergic rhinitis has been often limited to the exclusion of an allergic sensitization. Actually, local allergic rhinitis has been often misdiagnosed as well as mixed rhinitis has not been recognized in most cases. Nasal cytology is a diagnostic procedure being suitable for routine clinical practice with children and could be a very useful tool to characterize and diagnose non-allergic rhinitis, providing important clues for epidemiological analysis and clinical management.

  1. Biochemical genetics in marine fisheries management and conservation

    Digital Repository Service at National Institute of Oceanography (India)

    Menezes, M.R.

    genetic distance dendrogram showing genetic relationships. Nei estimated that for local races of a species, D ranges from nearly 0 to 0.05, for subspecies D =0.02 to 0.2, and for full species D=O. I to 2.0. For genera. D is usually greater than I. 184...

  2. [Initial management of advanced ovarian cancer: What radiological, pathological and surgical information are important for optimal therapeutic strategy?].

    Science.gov (United States)

    Heudel, Pierre-Etienne; Selle, Frédéric; Morice, Philippe; Rouzier, Roman; Taieb, Sophie; Devouassoux-Shisheboran, Mojgan; Genestie, Catherine; Balleyguier, Corinne; Ray-Coquard, Isabelle

    2015-09-01

    Because the majority of patients present advanced disease at diagnosis, the management of epithelial ovarian cancer needs specialist multidisciplinary teamwork. Expertise in surgery, chemotherapy, imaging and histopathology is essential to achieve optimum outcomes. Computed tomography scans are routinely used to determine the extent of disease and to aid in surgical planning. The histologic classification is crucial to plan the best therapeutic strategy and to define the prognosis of disease. Pathological prognostic factors, such as degree of differentiation, FIGO-stage, and histological type have to be described. This report is fundamental to assessing prognosis and selection of appropriate treatment strategy. An adequate staging procedure is an extensive staging by an experienced gynecological oncologist, exploring the entire upper abdomen, and the pelvic and para-aortic lymph node regions to define the Peritoneal Cancer Index (PCI). The final assessment is the completeness of cytoreduction (CC) score, which is an assessment of residual disease after a maximal surgical effort. Initial management of advanced ovarian cancer is best provided by a specialist multidisciplinary team, including a radiologist, a pathologist, a gynecologic oncologist and a medical oncologist.

  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. 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.

  5. A genetic and pathologic study of a DENV2 clinical isolate capable of inducing encephalitis and hematological disturbances in immunocompetent mice.

    Science.gov (United States)

    Amorim, Jaime Henrique; Pereira Bizerra, Raíza Sales; dos Santos Alves, Rúbens Prince; Sbrogio-Almeida, Maria Elisabete; Levi, José Eduardo; Capurro, Margareth Lara; de Souza Ferreira, Luís Carlos

    2012-01-01

    Dengue virus (DENV) is the causative agent of dengue fever (DF), a mosquito-borne illness endemic to tropical and subtropical regions. There is currently no effective drug or vaccine formulation for the prevention of DF and its more severe forms, i.e., dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS). There are two generally available experimental models for the study of DENV pathogenicity as well as the evaluation of potential vaccine candidates. The first model consists of non-human primates, which do not develop symptoms but rather a transient viremia. Second, mouse-adapted virus strains or immunocompromised mouse lineages are utilized, which display some of the pathological features of the infection observed in humans but may not be relevant to the results with regard to the wild-type original virus strains or mouse lineages. In this study, we describe a genetic and pathological study of a DENV2 clinical isolate, named JHA1, which is naturally capable of infecting and killing Balb/c mice and reproduces some of the symptoms observed in DENV-infected subjects. Sequence analyses demonstrated that the JHA1 isolate belongs to the American genotype group and carries genetic markers previously associated with neurovirulence in mouse-adapted virus strains. The JHA1 strain was lethal to immunocompetent mice following intracranial (i.c.) inoculation with a LD(50) of approximately 50 PFU. Mice infected with the JHA1 strain lost weight and exhibited general tissue damage and hematological disturbances, with similarity to those symptoms observed in infected humans. In addition, it was demonstrated that the JHA1 strain shares immunological determinants with the DENV2 NGC reference strain, as evaluated by cross-reactivity of anti-envelope glycoprotein (domain III) antibodies. The present results indicate that the JHA1 isolate may be a useful tool in the study of DENV pathogenicity and will help in the evaluation of anti-DENV vaccine formulations as well as

  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. Genetic management guidelines for captive propagation of freshwater mussels (unionoidea)

    Science.gov (United States)

    Jones, J.W.; Hallerman, E.M.; Neves, R.J.

    2006-01-01

    Although the greatest global diversity of freshwater mussels (???300 species) resides in the United States, the superfamily Unionoidea is also the most imperiled taxon of animals in the nation. Thirty-five species are considered extinct, 70 species are listed as endangered or threatened, and approximately 100 more are species of conservation concern. To prevent additional species losses, biologists have developed methods for propagating juvenile mussels for release into the wild to restore or augment populations. Since 1997, mussel propagation facilities in the United States have released over 1 million juveniles of more than a dozen imperiled species, and survival of these juveniles in the wild has been documented. With the expectation of continued growth of these programs, agencies and facilities involved with mussel propagation must seriously consider the genetic implications of releasing captive-reared progeny. We propose 10 guidelines to help maintain the genetic resources of cultured and wild populations. Preservation of genetic diversity will require robust genetic analysis of source populations to define conservation units for valid species, subspecies, and unique populations. Hatchery protocols must be implemented that minimize risks of artificial selection and other genetic hazards affecting adaptive traits of progeny subsequently released to the wild. We advocate a pragmatic, adaptive approach to species recovery that incorporates the principles of conservation genetics into breeding programs, and prioritizes the immediate demographic needs of critically endangered mussel species.

  8. Kennedy病的临床、病理及AR基因分析一例%Clinical,pathological and genetic analysis of a Chinese patient with Kennedy disease

    Institute of Scientific and Technical Information of China (English)

    李海燕; 李楠; 唐北沙; 齐尚书; 杨清成

    2011-01-01

    Objective To study the clinical, pathological and genetic characteristics of a Chinese patient with Kennedy disease ( KD ). Methods The clinical, electrophysiological and pathological data of the patient were analysed. Blood samples were collected from the patient and his 4 siblings. Mutation analysis of AR gene was made by means of DNA-direct sequencing. Results The patient mainly presented quadriplegia and accompanied with bulbar paralysis, musle atrophy, sensory disturbance and gynaecomastia, blood fat and crestase increased, Electron-eurogram demonstrated sense and motor conductive velocity slowing and electromyogram demonstrated ventricornual motor neurons affecting. Atrophy muscle fibers were found by pathology examination. CAG repeat number of the first exon of AR gene of the patient is 43, but the CAG repeat numbers of his siblings were from 19 to 23. Conclusions A Chinese KD patient is found by AR gene mutation analysis. The symptoms of KD patient are not specified, electro-neurogram and pathology examination are benefical to the diagnosis of KD. AR gene mutation analys is the reliable method for KD diagnosis.%目的 探讨Kennedy病(KD)的临床、病理及基因特点.方法 对1例KD患者进行临床、电生理和病理检查.抽取该患者及4位家族成员外周静脉血并抽提其基因组DNA,采用PCR-DNA直接测序的方法进行AR基因分析.结果 该患者临床表现为缓慢进行性四肢无力,伴有延髓麻痹、肌肉萎缩、肌束跳动、感觉障碍和男性乳房发育;血脂、肌酶升高;肌电图提示前角细胞损害,周围神经感觉及运动传导速度减慢;肌肉病理可见萎缩的肌纤维及肥大固缩的细胞核;AR基因分析发现患者第一外显子CAG重复突变,重复次数为43次,4位家族成员为19~23次.结论该例为散发性KD患者;KD临床表现不典型,肌电图和病理检查提示神经源性损害,确诊需行AR基因分析.

  9. Genetic Diversity and Structure of Brazilian Populations of Diatraea saccharalis (Lepidoptera: Crambidae): Implications for Pest Management.

    Science.gov (United States)

    Silva-Brandão, Karina L; Santos, Thiago V; Cônsoli, Fernando L; Omoto, Celso

    2015-02-01

    The sugarcane borer, Diatraea saccharalis (F.), is the main pest of sugarcane in Brazil. Genetic variability and gene flow among 13 Brazilian populations of the species were evaluated based on mitochondrial DNA sequences to estimate the exchange of genetic information within and among populations. We found high genetic structure among sampled localities (ΦST=0.50923), and pairwise genetic distances were significantly correlated to geographic distances. Demographic analysis and genealogical network of mitochondrial sequences indicate population growth and admixture of D. saccharalis populations, events likely related to the sequential expansion of the corn and sugarcane crops in Brazil. The implications of these findings for pest management are discussed.

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

    Directory of Open Access Journals (Sweden)

    Narges Salehi Shahrabi

    2013-11-01

    Full Text Available 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.

  11. Use of simulated patients for a student learning experience on managing difficult patient behaviour in speech-language pathology contexts.

    Science.gov (United States)

    Bressmann, Tim; Eriks-Brophy, Alice

    2012-04-01

    A student learning experience about managing difficult patients in speech-language pathology is described. In 2006, 40 students participated in a daylong learning experience. The first part of the experience consisted of presentations and discussions of different scenarios of interpersonal difficulty. The theoretical introduction was followed by an active learning experience with simulated patients. A similar experience without the simulated patients was conducted for 45 students in 2010. Both years of students rated the experience with an overall grade and gave qualitative feedback. There was no significant difference between the overall grades given by the students in 2006 and 2010. The qualitative feedback indicated that the students valued the experience and that they felt it added to their learning and professional development. The students in 2006 also provided detailed feedback on the simulation activities. Students endorsed the experience and recommended that the learning experience be repeated for future students. However, the students in 2006 also commented that they had felt inadequately prepared for interacting with the simulated patients. A learning experience with simulated patients can add to students' learning. The inclusion of simulated patients can provide a different, but not automatically better, learning experience.

  12. 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 introducin

  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 introducin

  14. Innovation in conservation, how information technology tools improve the ex situ management of plant genetic resources

    NARCIS (Netherlands)

    Hintum, van T.J.L.

    2012-01-01

    Many new technologies highly relevant to the PGR community have become available over the past years, especially in the fields of genomics and information technology. The effect of the second category of technologies on the ex situ manage-ment of plant genetic resources is explored. After a low init

  15. Understanding the Cognitive and Genetic Underpinnings of Procrastination: Evidence for Shared Genetic Influences with Goal Management and Executive Function Abilities

    OpenAIRE

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

    2015-01-01

    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 two hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF...

  16. Genetic tools for wildlife management: New TWS Working Group focuses on molecular ecology

    Science.gov (United States)

    Latch, Emily; Crowhurst, Rachel S.; Oyler-McCance, Sara J.; Robinson, Stacie

    2014-01-01

    Granted interim status in November, 2013, The Wildlife Society’s (TWS) Molecular Ecology Working Group aims to promote scientific advancement by applying molecular techniques to wildlife ecology, management, and conservation. The working group—composed of sci - entists from diverse backgrounds—met for the first time in Pittsburgh at the TWS Annual Conference held in October. Our overarching goal is to enhance awareness of molecular ecology and genetic applica - tions to wildlife biology and act as an informational and networking resource. During the group’s interim status, which runs for three years, we intend to focus on a broad scope of molecular ecology that is applicable to wildlife including genetic and ge - nomic methods, conservation genetics, non-invasive genetic population monitoring, landscape genetics, evolutionary genetics, and molecular forensics

  17. Surgical management of vertebrobasilar insufficiency due to pathology of the second-third segments of the vertebral artery.

    Science.gov (United States)

    Turliuk, D V; Ianushko, V A; Kardash, O F

    2009-01-01

    To determine efficacy of surgical management for vertebrobasilar insufficiency (VBI) associated with pathological passage of the vertebral artery (VA) within the bone canal. Over the period from 2003 to 2008, a total of twenty-five patients with no effect of conservative therapy during 6 months were subjected to reconstruction of the VA in the 3rd segment. The access to the artery was obtained in a manner similar to that used in reconstruction of the carotid arteries, without intersecting the nodding muscle. All the patients were prior to surgery subjected to neuropsychological testing, extra-and intracranial ultrasonographic study with the positional tests, angiography (NMR or digital subtraction angiography). Doppler ultrasonography of the bypass graft, neuropsychological testing, and angiography by the indications were repeated on postoperative day 7 and 3 months after surgery. In the postoperative period according to the VBI scale and Tinneti scale, we revealed significant improvement of the indices on day 7. The improvement of the cognitive functions was not statistically significant (P >0.05). Transcranial Doppler ultrasonography with the De Kleijn test at baseline revealed that five (21%) patients had a complete arrest of blood circulation along one of the VAs, with a decrease in the blood flow along the basilar artery by more than 50%. In the remaining cases, the difference in the volumetric characteristics of the blood stream along the basilar artery averagely amounted to 42.0 +/- 5.4%. Ultrasonographic study performed both in the short- and long-term postoperative periods (on day 7, at 3 months) did not reveal any significant decrease in the bloodflow along the basilar artery during the positional test. The external-carotid--vertebral transposition improves the blood circulation in the posterior cranial fossa. An operative intervention performed on the 3rd segment of the vertebral artery removes symptomatology of VBI as early as in the immediate

  18. Managing inbreeding in selection and genetic conservation schemes of livestock

    NARCIS (Netherlands)

    Sonesson, A.K.

    2002-01-01

    This thesis deals with the definition of selection and mating criteria for animal breeding populations under selection and for genetic conservation populations, especially emphasizing on populations with small effective sizes that have known pedigrees.Managing inbreeding in selection and genetic conservation schemes of livestock

    NARCIS (Netherlands)

    Sonesson, A.K.

    2002-01-01

    This thesis deals with the definition of selection and mating criteria for animal breeding populations under selection and for genetic conservation populations, especially emphasizing on populations with small effective sizes that have known pedigrees.

    &

  19. 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

  1. A New Technique to Manage Big Bioinformatics Data Using Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Huda Jalil Dikhil

    2016-10-01

    Full Text Available The continuous growth of data, mainly the medical data at laboratories becomes very complex to use and to manage by using traditional ways. So, the researchers start studying genetic information field which increased in the past thirty years in bioinformatics domain (the computer science field, genetic biology field, and DNA. This growth of data becomes known as big bioinformatics data. Thus, efficient algorithms such as Genetic Algorithms are needed to deal with this big and vast amount of bioinformatics data in genetic laboratories. So the researchers proposed two models to manage the big bioinformatics data in addition to the traditional model. The first model by applying Genetic Algorithms before MapReduce, the second model by applying Genetic Algorithms after the MapReduce, and the original or the traditional model by applying only MapReduce without using Genetic Algorithms. The three models were implemented and evaluated using big bioinformatics data collected from the Duchenne Muscular Dystrophy (DMD disorder. The researchers conclude that the second model is the best one among the three models in reducing the size of the data, in execution time, and in addition to the ability to manage and summarize big bioinformatics data. Finally by comparing the percentage errors of the second model with the first model and the traditional model, the researchers obtained the following results 1.136%, 10.227%, and 11.363% respectively. So the second model is the most accurate model with the less percentage error.

  2. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  3. A genetic and pathologic study of a DENV2 clinical isolate capable of inducing encephalitis and hematological disturbances in immunocompetent mice.

    Directory of Open Access Journals (Sweden)

    Jaime Henrique Amorim

    Full Text Available Dengue virus (DENV is the causative agent of dengue fever (DF, a mosquito-borne illness endemic to tropical and subtropical regions. There is currently no effective drug or vaccine formulation for the prevention of DF and its more severe forms, i.e., dengue hemorrhagic fever (DHF and dengue shock syndrome (DSS. There are two generally available experimental models for the study of DENV pathogenicity as well as the evaluation of potential vaccine candidates. The first model consists of non-human primates, which do not develop symptoms but rather a transient viremia. Second, mouse-adapted virus strains or immunocompromised mouse lineages are utilized, which display some of the pathological features of the infection observed in humans but may not be relevant to the results with regard to the wild-type original virus strains or mouse lineages. In this study, we describe a genetic and pathological study of a DENV2 clinical isolate, named JHA1, which is naturally capable of infecting and killing Balb/c mice and reproduces some of the symptoms observed in DENV-infected subjects. Sequence analyses demonstrated that the JHA1 isolate belongs to the American genotype group and carries genetic markers previously associated with neurovirulence in mouse-adapted virus strains. The JHA1 strain was lethal to immunocompetent mice following intracranial (i.c. inoculation with a LD(50 of approximately 50 PFU. Mice infected with the JHA1 strain lost weight and exhibited general tissue damage and hematological disturbances, with similarity to those symptoms observed in infected humans. In addition, it was demonstrated that the JHA1 strain shares immunological determinants with the DENV2 NGC reference strain, as evaluated by cross-reactivity of anti-envelope glycoprotein (domain III antibodies. The present results indicate that the JHA1 isolate may be a useful tool in the study of DENV pathogenicity and will help in the evaluation of anti-DENV vaccine formulations as

  4. Application of Molecular Pathology in Endocrine Pathology.

    Science.gov (United States)

    Linke, Ebru Serinsoz; Tezel, Gaye Güler

    2015-01-01

    Rapid growth in knowledge of cell and molecular biology led to the increased usage of molecular techniques in anatomical pathology. This is also due to the advances achieved in the techniques introduced in the last few years which are less laborious as compared to the techniques used at the beginning of the "molecular era". The initial assays were also very expensive and were not performed except for selected centers. Moreover, the clinicians were not sure how to make use of the accumulating molecular information. That situation has also changed and molecular techniques are being performed in a wide variety of medical settings which also has a reflection on the endocrine system pathology among other organ systems. This review will provide an update of genetic changes observed in different endocrine system pathologies and their diagnostic, therapeutic and prognostic values.

  5. Impact of genetic selection on management of boar replacement.

    Science.gov (United States)

    Robinson, J A B; Buhr, M M

    2005-01-15

    Boars in an artificial insemination centre have been selected for their superior genetic potential, with 'superior' being defined as having traits the customer wants transmitted to his herd. The ability to meet the customers' needs depends on the heritability of the trait, the geneticist's success in devising a selection scheme for the trait in balance with other economically important traits, and the boar's ability to produce sperm that can fertilise oocytes. Genetic evaluation research over the past 20 years has greatly increased the number of traits for which a boar can be selected: currently in the Canadian national program, these include age at 100 kg, backfat at 100 kg, feed efficiency, lean yield and litter size. In the near future, traits that are very likely to be added to this selection list include piglet survival, marbling, loin eye area and structure traits. In Canada, sires are ranked on two estimated breeding value (EBV) indices; one, focused on development of terminal sire lines, is based on the growth and yield traits and another, primarily focused on maternal line development, de-emphasises these traits and incorporates litter size. Boars that are in Canadian AI centres because of their excellent growth traits are typically in the top 5-10% of the national population for terminal sire line index, but they may be only average or substandard for litter size. Conversely, boars selected to be in the top 5-10% for conveying such reproductive traits as litter size may only be in the top 33% for growth traits. The more offspring from a superior boar in either of these indices, the faster the population average for the trait improves. The original sire gets knocked out of the elite group, is culled and replaced by a higher ranked young boar from the now improved general population. Although genetic superiority should govern an AI centre's selection and culling of boars, decision-making in real life is seldom that simple. Selection criteria may be

  6. 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

    2015-02-09

    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.

  7. 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.

  8. 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.

  9. EXTERNALITIES AND THE SIX FACETS MODEL OF TECHNOLOGY MANAGEMENT: GENETICALLY MODIFIED ORGANISMS IN AGRIBUSINESS

    OpenAIRE

    STEPHEN R. LUXMORE; CLYDE EIRÍKUR HULL

    2010-01-01

    The Six Facets Model of technology management has previously only been applied to process innovation at the firm and the industry level. In this article, the model is applied to product innovation for the first time. In the context of genetically-modified organisms in the agribusiness industry, we examine radical product innovation through the Six Facets Model. We propose, based on the history of genetically-modified organisms in agribusiness, that when applied to product innovation the Six F...

  10. The role of genetics in fisheries management under the E.U. common fisheries policy.

    Science.gov (United States)

    Casey, J; Jardim, E; Martinsohn, J Th

    2016-12-01

    Exploitation of fish and shellfish stocks by the European Union fishing fleet is managed under the Common Fisheries Policy (CFP), which aims to ensure that fishing and aquaculture are environmentally, economically and socially sustainable and that they provide a source of healthy food for E.U. citizens. A notable feature of the CFP is its legally enshrined requirement for sound scientific advice to underpin its objectives. The CFP was first conceived in 1970 when it formed part of the Common Agricultural Policy. Its formal inception as a stand-alone regulation occurred in 1983 and since that time, the CFP has undergone reforms in 1992, 2002 and 2013, each time bringing additional challenges to the scientific advisory process as the scope of the advice increased in response to changing objectives arising from E.U. regulations and commitments to international agreements. This paper reviews the influence that genetics has had on fish stock assessments and the provision of management advice for European fisheries under successive reforms of the CFP. The developments in genetics since the inception of the CFP have given rise to a diverse and versatile set of genetic techniques that have the potential to provide significant added value to fisheries assessments and the scientific advisory process. While in some cases, notably Pacific salmon Oncorhynchus spp., genetics appear to be very well integrated into existing management schemes, it seems that for marine fishes, discussions on the use of genetics and genomics for fisheries management are often driven by the remarkable technological progress in this field, rather than imminent needs emerging from policy frameworks. An example is the recent suggestion to use environmental (e)DNA for monitoring purposes. While there is no denying that state-of-the-art genetic and genomic approaches can and will be of value to address a number of issues relevant for the management and conservation of marine renewable natural resources, a

  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. The Genetic Basis of Pheochromocytoma and Paraganglioma: Implications for Management

    Science.gov (United States)

    Shuch, Brian; Ricketts, Christopher J.; Pacak, Karol; Linehan, W. Marston

    2015-01-01

    Chromaffin cells are catecholamine-producing cells derived from neural crest tissue. Chromaffin tumors (ChT) are rare tumors arising from these cells and are divided into pheochromocytoma (PCC) arising from adrenal tissue and paraganglioma (PGL) arising from extra-adrenal ganglia. Previously, ∼10% were believed to be hereditary, but advances in genome sequencing has shown roughly 35% of apparently sporadic tumors have a hereditary component. In this review we describe both classic and newly discovered hereditary ChT syndromes and provide recommendations for genetic testing. In many cases the genes associated with these conditions are linked to common kidney cancer pathways familiar to urologic oncologists. PMID:24642075

  13. Management of rhesus isoimmunization by preimplantation genetic diagnosis.

    Science.gov (United States)

    Avner, R; Reubinoff, B E; Simon, A; Zentner, B S; Friedmann, A; Mitrani-Rosenbaum, S; Laufer, N

    1996-01-01

    A genetic assay by single blastomere analysis was developed for rhesus (RhD) blood group typing of early cleavage stage embryos. The method, which is based on the simultaneous amplification of an RhD-specific sequence and an internal control in single cells, was applied for the selective transfer of RhD-negative embryos in a family of an RhD sensitized woman and a heterozygote partner. The RhD status of two out of three biopsied embryos was determined. According to their amplified products, both were typed as RhD-negative and transferred to the uterus. Pregnancy was not achieved.

  14. Intellectual property management and commercialisation of forest genetic resources

    CSIR Research Space (South Africa)

    Verryn, SD

    2008-07-01

    Full Text Available Intellectual Property (IP) management and commercialisation: the IP should have significant value; it should be effectively delivered to the market; and possession of the IP should be maintained by the inventor. Considering the first criterion, in South... stream_source_info Verryn_2008.pdf.txt stream_content_type text/plain stream_size 2994 Content-Encoding UTF-8 stream_name Verryn_2008.pdf.txt Content-Type text/plain; charset=UTF-8 Intellectual property management...

  15. Infectious hematopoietic necrosis virus (IHNV) outbreak in farmed rainbow trout in Iran: Viral isolation, pathological findings, molecular confirmation, and genetic analysis.

    Science.gov (United States)

    Ahmadivand, Sohrab; Soltani, Mehdi; Mardani, Karim; Shokrpoor, Sara; Hassanzadeh, Reza; Ahmadpoor, Mehran; Rahmati-Holasoo, Hooman; Meshkini, Saeid

    2017-02-02

    Infectious hematopoietic necrosis virus (IHNV) is the etiological agent of a contagious disease (IHN) mainly in salmonid fish. In the present study, we isolated and identified IHNV in trout fry from Iranian trout farms with unexplained high mortality in 2016. The affected fry showed cumulative mortality of 90% with the gross pathological signs including exophthalmia and hemorrhage of the eye, skin darkening, abdominal distension, ulceration of the snout, and the visceral pallor and yellowish fluid in the intestine. Histopathological examination revealed marked necrosis in the anterior kidney, liver and spleen with the intracytoplasmic inclusion bodies in the liver sections. Also, intranuclear inclusion body and marginated chromatin were observable in the hematopoietic cells of the kidney. The homogenates tissues of infected fry induced IHNV-positive cytopathic effects (CPE) in EPC cells and confirmed by RT-PCR reactions and sequencing. Phylogenetic analysis revealed the Iranian IHNV isolates belonged to the European (E) genogroup with 100% identity to some Italian isolates. This is the first report of IHNV infection in farmed trout fry in Iran describing the viral isolation, clinical symptoms, histopathological findings, molecular confirmation, and genetic analysis suggestion of the specific country of origin.

  16. Genetic inhibition of solute-linked carrier 39 family transporter 1 ameliorates aβ pathology in a Drosophila model of Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Minglin Lang

    Full Text Available The aggregation or oligomerization of amyloid-β (Aβ peptide is thought to be the primary causative event in the pathogenesis of Alzheimer's disease (AD. Considerable in vitro evidence indicates that the aggregation/oligomerization of Aβ is promoted in the presence of Zn; however, the functional role of Zn in AD pathogenesis is still not well clarified in vivo. Zn is imported into the brain mainly through the solute-linked carrier (Slc 39 family transporters. Using a genetically tractable Drosophila model, we found that the expression of dZip1, the orthologue of human Slc39 family transporter hZip1 in Drosophila, was altered in the brains of Aβ42-expressing flies, and Zn homeostasis could be modulated by forcible dZip1 expression changes. An array of phenotypes associated with Aβ expression could be modified by altering dZip1 expression. Importantly, Aβ42 fibril deposits as well as its SDS-soluble form were dramatically reduced upon dZip1 inhibition, resulting in less neurodegeneration, significantly improved cognitive performance, and prolonged lifespan of the Aβ42-transgenic flies. These findings suggest that zinc contributes significantly to the Aβ pathology, and manipulation of zinc transporters in AD brains may provide a novel therapeutic strategy.

  17. Osler's pathology.

    Science.gov (United States)

    Pai, S A

    2000-12-01

    Sir William Osler, one of the giants of clinical medicine, had his initial training as a pathologist. He was one of the physicians responsible for the impact that autopsies have had on medicine. He also contributed to the development of laboratory medicine. Osler made significant discoveries in anatomic pathology and hematology. His expertise was restricted not just to human pathology, but also to veterinary pathology. His mentors played a fundamental role in his achievements in academics.

  18. [Pathological jealousy].

    Science.gov (United States)

    Zacher, A

    2004-10-28

    Pathological jealousy can make life unbearable for all concerned. The proximity of this condition to obsessive-compulsive phenomena has given rise to the notion that it might respond to substances of proven value in the treatment of obsessive-compulsive disorders. This case history exemplifies the successful treatment of pathological jealousy with the selective serotonin reuptake inhibitor (SSRI) fluoxetine. The substance not only proved to be a successful antidepressant, but also effectively mitigated the anguish of the patient's pathological jealousy. On the basis of these findings, fluoxetine--as also other SSRIs--should always be considered as a possible effective pharmacological strategy for the treatment of pathological jealousy.

  19. Updates in ophthalmic pathology.

    Science.gov (United States)

    Mendoza, Pia R; Grossniklaus, Hans E

    2017-05-01

    Ophthalmic pathology has a long history and rich heritage in the field of ophthalmology. This review article highlights updates in ophthalmic pathology that have developed significantly through the years because of the efforts of committed individuals and the confluence of technology such as molecular biology and digital pathology. This is an exciting period in the history of ocular pathology, with cutting-edge techniques paving the way for new developments in diagnostics, therapeutics, and research. Collaborations between ocular oncologists and pathologists allow for improved and comprehensive patient care. Ophthalmic pathology continues to be a relevant specialty that is important in the understanding and clinical management of ocular disease, education of eye care providers, and overall advancement of the field.

  20. Stochastic Management of the Open Large Water Reservoir with Storage Function with Using a Genetic Algorithm

    Science.gov (United States)

    Kozel, Tomas; Stary, Milos

    2016-10-01

    Described models are used random forecasting period of flow line with different length. The length is shorter than 1 year. Forecasting period of flow line is transformed to line of managing discharges with same length as forecast. Adaptive managing is used only first value of line of discharges. Stochastic management is worked with dispersion of controlling discharge value. Main advantage stochastic management is fun of possibilities. In article is described construction and evaluation of adaptive stochastic model base on genetic algorithm (classic optimization method). Model was used for stochastic management of open large water reservoir with storage function. Genetic algorithm is used as optimization algorithm. Forecasted inflow is given to model and controlling discharge value is computed by model for chosen probability of controlling discharge value. Model was tested and validated on made up large open water reservoir. Results of stochastic model were evaluated for given probability and were compared to results of same model for 100% forecast (forecasted values are real values). The management of the large open water reservoir with storage function was done logically and with increased sum number of forecast from 300 to 500 the results given by model were better, but another increased from 500 to 750 and 1000 did not get expected improvement. Influence on course of management was tested for different length forecasted inflow and their sum number. Classical optimization model is needed too much time for calculation, therefore stochastic model base on genetic algorithm was used parallel calculation on cluster.

  1. Epidemiological, Clinico-Pathological Profile and Management of Colorectal Carcinoma in a Tertiary Referral Center of Eastern India

    Directory of Open Access Journals (Sweden)

    Shyamal Kumar Halder

    2013-01-01

    Full Text Available Background: The colorectal carcinoma is a common cancer in males and in females and second most common cause of death in Europe and third commonest cause in the United States. Recent Indian study shows that there is a significant increase in incidence of colonic carcinoma but the incidence of rectal carcinoma remains steady. Aims and Objectives: This prospective study was undertaken to assess the clinico-pathological profile and management of colorectal malignancy in a tertiary referral institute of eastern India and to compare the above data with the data from the western world. Material and Methods: The patients admitted with the diagnosis of colorectal carcinoma in IPGME and R (SSKM, a tertiary hospital in eastern India, between January 2006 and December 2010, were included in this study. These patients were prospectively analyzed for age, sex, site of the lesion, clinical presentations, nature of the growth and types of surgery performed. Results: 192 patients were included in this study of which 78 patients were of younger age group (35 years. The mean age of this series was 44.1 years. The male to female ratio of younger and older group was 1.68:1 and 1.85:1 respectively. Reetal bleeding was the commenest symptom irrespective of age and sex. Pain in abdomen (39.7% and intestinal obstruction (21.8% were the predominant presenting features in the patients of younger group whereas weight loss was commonest presenting feature in the patients of older age group. Most common histological type, irrespective of age, was adenocarcinoma (93.8%. Overall, right sided colonic growth was more common in females while rectum was the commonest site of affection in males. The patients of younger age group presented in advanced stage like Duke’s C and Duke’s D. Conclusions: The younger patients are diagnosed with colorectal carcinoma. Cancer of right colon is more common than that of left. The younger patients present more often with abdominal pain and

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

    Science.gov (United States)

    Olsen, Morten T; Andersen, Liselotte W; Dietz, Rune; Teilmann, Jonas; Härkönen, Tero; Siegismund, Hans R

    2014-02-01

    Identification of populations and management units is an essential step in the study of natural systems. Still, there is limited consensus regarding how to define populations and management units, and whether genetic methods allow for inference at the relevant spatial and temporal scale. Here, we 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 (Molecular Ecology, 19, 2010, 3038) 'population viability criterion' for demographic independence. The genetic analyses revealed fine-scale population structuring in southern Scandinavian harbour seals and pointed to the existence of several genetic units. The PVAs indicated that the census population size of each of these genetic units was sufficiently large for long-term population viability, and hence that the units could be classified as demographically independent management units. Our study suggests that population genetic inference can offer the same degree of temporal and spatial resolution as 'nongenetic' methods and that the combined use of genetic data and PVAs constitutes a promising approach for delineating populations and management units.

  3. Tuberous sclerosis complex: genetic basis and management strategies

    Directory of Open Access Journals (Sweden)

    Tsai V

    2012-02-01

    Full Text Available Victoria Tsai, Peter B CrinoPENN Epilepsy Center, PENN Tuberous Sclerosis Clinic, Department of Neurology and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USAAbstract: Tuberous sclerosis complex (TSC is an autosomal dominant genetic disorder that results from mutations in the TSC1 or TSC2 genes. TSC is a multisystem hamartoma syndrome with manifestations in the brain, heart, lungs, kidney, skin, and eyes. Neurologically, TSC patients may exhibit severe epilepsy, cognitive disabilities, and autism spectrum disorders. Many TSC patients also present with renal angiomyolipomas, polycystic kidney disease, skin lesions, and lymphangiomyomatosis. TSC1 and TSC2 proteins form a heterodimeric complex that serves to inhibit mammalian target of rapamycin (mTOR signaling pathway through Ras homolog enriched in brain (Rheb. TSC1 and TSC2 receive activating or inhibitory signals from multiple inputs including growth factors, insulin signaling, energy and amino acid levels, and proinflammatory pathways, which are then integrated to regulate the activity of the mTOR pathway. mTOR signaling plays a critical role in regulating cell growth, transcription, translation, and autophagy. Animal models have shed light on certain features of TSC, but failed to recapitulate the disease completely and currently further research is under way to better understand this devastating disorder. Clinical trials with mTOR inhibitors have shown promising results for some features of TSC, but further research needs to be conducted to establish full indications for therapeutic treatment.Keywords: tuberous sclerosis complex, TSC, TSC1, TSC2

  4. 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 calculat

  5. Genetics and immunotherapy: using the genetic landscape of gliomas to inform management strategies.

    Science.gov (United States)

    Wang, Joanna Y; Bettegowda, Chetan

    2015-07-01

    Recent work in genetics has identified essential driver mutations in gliomas and has profoundly changed our understanding of tumorigenesis. New insights into the molecular basis of glioma has informed the development of therapies demonstrating considerable potential, including immunotherapeutic approaches such as peptide and dendritic cell vaccines against EGFRvIII. However, the selective targeting of one component of a dysregulated pathway may be inadequate for a durable clinical response, given the intratumoral heterogeneity of glioblastoma (GBM) and hypermutated profiles displayed by tumor recurrences. Immune checkpoint blockade with anti-cytotoxic T lymphocyte antigen-4 (CTLA) and anti-programmed cell death 1 (PD-1) have demonstrated encouraging results in clinical trials with other solid tumors, and recent data suggest that this type of therapy may be particularly useful for tumors with high mutational burdens. Although the survival for patients with GBM has remains grim, the use of immunotherapy may finally change patient outcomes.

  6. A multidisciplinary approach for the management of pathologic tooth migration in a patient with moderately advanced periodontal disease.

    Science.gov (United States)

    Kim, Young-Il; Kim, Myung-Jin; Choi, Jeom-Il; Park, Soo-Byung

    2012-04-01

    The physiologic tooth position is determined by interactions between the periodontal tissue and occlusal, tongue, and lip forces. Bone destruction resulting from chronic periodontal disease disturbs the equilibrium of these interactive balances, leading to pathologic tooth migration, often requiring multidisciplinary treatment approaches. The present case demonstrates a systematic periodontal-orthodontic-prosthetic treatment for achieving the optimal structural, functional, and esthetic outcomes.

  7. 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.

  8. Oral pathology.

    Science.gov (United States)

    Niemiec, Brook A

    2008-05-01

    Oral disease is exceedingly common in small animal patients. In addition, there is a very wide variety of pathologies that are encountered within the oral cavity. These conditions often cause significant pain and/or localized and systemic infection; however, the majority of these conditions have little to no obvious clinical signs. Therefore, diagnosis is not typically made until late in the disease course. Knowledge of these diseases will better equip the practitioner to effectively treat them. This article covers the more common forms of oral pathology in the dog and cat, excluding periodontal disease, which is covered in its own chapter. The various pathologies are presented in graphic form, and the etiology, clinical signs, recommended diagnostic tests, and treatment options are discussed. Pathologies that are covered include: persistent deciduous teeth, fractured teeth, intrinsically stained teeth, feline tooth resorption, caries, oral neoplasia, eosinophilic granuloma complex, lymphoplasmacytic gingivostomatitis, enamel hypoplasia, and "missing" teeth.

  9. Pathology Milestones

    Directory of Open Access Journals (Sweden)

    J. Stacey Klutts MD, PhD

    2015-10-01

    Full Text Available All Accreditation Council for Graduate Medical Education accredited pathology residency training programs are now required to evaluate residents using the new Pathology Milestones assessment tool. Similar to implementation of the 6 Accreditation Council for Graduate Medical Education competencies a decade ago, there have been challenges in implementation of the new milestones for many residency programs. The pathology department at the University of Iowa has implemented a process that divides the labor of the task in rating residents while also maintaining consistency in the process. The process is described in detail, and some initial trends in milestone evaluation are described and discussed. Our experience indicates that thoughtful implementation of the Pathology Milestones can provide programs with valuable information that can inform curricular changes.

  10. The Epidemiology, Genetics and Future Management of Syndactyly

    Science.gov (United States)

    Jordan, D; Hindocha, S; Dhital, M; Saleh, M; Khan, W

    2012-01-01

    Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance. There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary. Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway. Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience. Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy. PMID:22448207

  11. 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 bo...... 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......., 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...

  12. Certified Genetic Counselors: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Cancer Syndromes.

    Science.gov (United States)

    Catts, Zohra Ali-Khan; Hampel, Heather

    2015-10-01

    The role of the cancer genetic counselor in the management of patients with cancer is discussed in this article. This includes explaining what a genetic counselor is trained to do and how they are credentialed and licensed. In addition, the article explains who to refer for cancer genetic counseling. Once referred, the article describes what actually happens in a pretest and posttest cancer genetic counseling session. Use of a cancer genetic registry and how it can help in practice is discussed. Finally, several mechanisms for identifying a cancer genetic counselor at one's institution or nearby are outlined.

  13. Genetic structure of coexisting wild and managed agave populations: implications for the evolution of plants under domestication.

    Science.gov (United States)

    Figueredo, Carmen Julia; Casas, Alejandro; González-Rodríguez, Antonio; Nassar, Jafet M; Colunga-GarcíaMarín, Patricia; Rocha-Ramírez, Víctor

    2015-10-03

    Domestication is a continuous evolutionary process guided by humans. This process leads to divergence in characteristics such as behaviour, morphology or genetics, between wild and managed populations. Agaves have been important resources for Mesoamerican peoples since prehistory. Some species are domesticated and others vary in degree of domestication. Agave inaequidens Koch is used in central Mexico to produce mescal, and a management gradient from gathered wild and silvicultural populations, as well as cultivated plantations, has been documented. Significant morphological differences were reported among wild and managed populations, and a high phenotypic variation in cultivated populations composed of plants from different populations. We evaluated levels of genetic diversity and structure associated with management, hypothesizing that high morphological variation would be accompanied by high genetic diversity in populations with high gene flow and low genetic structure among managed and unmanaged populations. Wild, silvicultural and cultivated populations were studied, collecting tissue of 19-30 plants per population. Through 10 nuclear microsatellite loci, we compared population genetic parameters. We analysed partition of variation associated with management categories to estimate gene flow among populations. Agave inaequidens exhibits high levels of genetic diversity (He = 0.707) and moderate genetic structure (FST = 0.112). No differences were found in levels of genetic diversity among wild (He = 0.704), silviculturally managed (He = 0.733) and cultivated (He = 0.698) populations. Bayesian analysis indicated that five genetic clusters best fit the data, with genetic groups corresponding to habitats where populations grow rather than to management. Migration rates ranged from zero between two populations to markedly high among others (M = 0.73-35.25). Natural mechanisms of gene flow and the dynamic management of agave propagules among populations favour gene

  14. 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.

  15. 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.

  16. Molecular pathology of solid tumours: some practical suggestions for translating research into clinical practice

    OpenAIRE

    Tomlinson, I P M; Ilyas, M

    2001-01-01

    “Molecular pathology” can be broadly defined as the use of genetic data, in addition to the standard pathological parameters, to optimise diagnosis and to indicate treatment and prognosis. The benefit to be gained from the exploitation of molecular techniques to provide additional information to aid patient management is potentially vast. Currently, molecular pathology is rarely used in clinical practice, although it is anticipated that it will eventually become a part of routine practice. Ho...

  17. BRCA-associated ovarian cancer: from molecular genetics to risk management.

    Science.gov (United States)

    Girolimetti, Giulia; Perrone, Anna Myriam; Santini, Donatella; Barbieri, Elena; Guerra, Flora; Ferrari, Simona; Zamagni, Claudio; De Iaco, Pierandrea; Gasparre, Giuseppe; Turchetti, Daniela

    2014-01-01

    Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutations in BRCA1 and BRCA2 genes. The presence of a BRCA mutation in OC patients has been suggested as a prognostic and predictive factor. In addition, the identification of asymptomatic carriers of such mutations offers an unprecedented opportunity for OC prevention. This review is aimed at exploring the current knowledge on epidemiological and molecular aspects of BRCA-associated OC predisposition, on pathology and clinical behavior of OC occurring in BRCA mutation carriers, and on the available options for managing asymptomatic carriers.

  18. BRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management

    Directory of Open Access Journals (Sweden)

    Giulia Girolimetti

    2014-01-01

    Full Text Available Ovarian cancer (OC mostly arises sporadically, but a fraction of cases are associated with mutations in BRCA1 and BRCA2 genes. The presence of a BRCA mutation in OC patients has been suggested as a prognostic and predictive factor. In addition, the identification of asymptomatic carriers of such mutations offers an unprecedented opportunity for OC prevention. This review is aimed at exploring the current knowledge on epidemiological and molecular aspects of BRCA-associated OC predisposition, on pathology and clinical behavior of OC occurring in BRCA mutation carriers, and on the available options for managing asymptomatic carriers.

  19. 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......Identification of populations and management units is an essential step in the study of natural systems. Still, there is limited consensus regarding how to define populations and management units, and whether genetic methods allow for inference at the relevant spatial and temporal scale. Here, we...

  20. Using genetic algorithm based simulated annealing penalty function to solve groundwater management model

    Institute of Scientific and Technical Information of China (English)

    吴剑锋; 朱学愚; 刘建立

    1999-01-01

    The genetic algorithm (GA) is a global and random search procedure based on the mechanics of natural selection and natural genetics. A new optimization method of the genetic algorithm-based simulated annealing penalty function (GASAPF) is presented to solve groundwater management model. Compared with the traditional gradient-based algorithms, the GA is straightforward and there is no need to calculate derivatives of the objective function. The GA is able to generate both convex and nonconvex points within the feasible region. It can be sure that the GA converges to the global or at least near-global optimal solution to handle the constraints by simulated annealing technique. Maximum pumping example results show that the GASAPF to solve optimization model is very efficient and robust.

  1. Interactive decision support for risk management: a qualitative evaluation in cancer genetic counselling sessions.

    Science.gov (United States)

    Glasspool, David W; Oettinger, Ayelet; Braithwaite, Dejana; Fox, John

    2010-09-01

    Genetic counselling for inherited susceptibility to cancer involves communication of a significant amount of information about possible consequences of different interventions. This study explores counsellors' attitudes to computer software designed to aid this process. Eight genetic counsellors used the software with actors playing patients. Clinicians' rating of expected patient satisfaction, content, accuracy, timeliness, format, overall value, ease of use, effect on the patient-provider relationship and effect on clinician's performance were evaluated via qualitative and quantitative analysis of interviews, training tasks and questionnaires. Most counsellors found the software effective. Concerns related to possible impact on consultation dynamics and content. Participants suggested countering these through appropriate new counselling skills and selective use of the computer. The REACT software could provide effective support for genetic risk management counselling.

  2. Digital pathology

    CERN Document Server

    Sucaet, Yves

    2014-01-01

    Digital pathology has experienced exponential growth, in terms of its technology and applications, since its inception just over a decade ago. Though it has yet to be approved for primary diagnostics, its values as a teaching tool, facilitator of second opinions and quality assurance reviews and research are becoming, if not already, undeniable. It also offers the hope of providing pathology consultant and educational services to under-served areas, including regions of the world that could not possibly sustain this level of services otherwise. And this is just the beginning, as its adoption b

  3. Genetics of non-alcoholic fatty liver disease: From susceptibility and nutrient interactions to management

    Institute of Scientific and Technical Information of China (English)

    Vishnubhotla; Venkata; Ravi; Kanth; Mitnala; Sasikala; Mithun; Sharma; Padaki; Nagaraja; Rao; Duvvuru; Nageshwar; Reddy

    2016-01-01

    Genetics plays an important role in determining the susceptibility of an individual to develop a disease. Complex, multi factorial diseases of modern day(diabetes, cardiovascular disease, hypertension and obesity) are a result of disparity between the type of food consumed and genes, suggesting that food which does not match the host genes is probably one of the major reasons for developing life style diseases. Non-alcoholic fatty liver is becoming a global epidemic leading to substantial morbidity. While various genotyping approaches such as whole exome sequencing using next generation sequencers and genome wide association studies have identified susceptibility loci for non-alcoholic fatty liver disease(NAFLD) including variants in patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 genes apart from others; nutrient based studies emphasized on a combination of vitamin D, E and omega-3 fatty acids to manage fatty liver disease. However majority of the studies were conducted independent of each other and very few studies explored the interactions between the genetic susceptibility and nutrient interactions. Identifying such interactions will aid in optimizing the nutrition tailor made to an individual’s genetic makeup, thereby aiding in delaying the onset of the disease and its progression. The present topic focuses on studies that identified the genetic susceptibility for NAFLD, nutritional recommendations, and their interactions for better management of NAFLD.

  4. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

    Science.gov (United States)

    Syngal, Sapna; Brand, Randall E; Church, James M; Giardiello, Francis M; Hampel, Heather L; Burt, Randall W

    2015-02-01

    This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

  5. Genetic management of endangered species at the Patuxent Wildlife Research Center

    Science.gov (United States)

    Gabel, R.R.; Gee, G.F.

    1987-01-01

    Summary: The Patuxent Wildlife Research Center conducts one of the world's largest and best-known research programs for captive propagation of endangered wildlife. In order to be effective and to ensure the long-term survival of species, researchers at Patuxent attempt to manage captive populations according to the principles of population genetics. This includes the use of estimated inbreeding levels for mate selections in Masked Bobwhites and biochemical analyses to measure extant genetic material and determine relationships among Whooping Cranes. As added insurance against catastrophic losses, or even random losses of key individuals representing unique lineages, cryopreservation of semen has been studied and used for some species. Artificial insemination, using either stored or fresh semen, is used to improve fertility rates, thereby increasing the chances for survival of unique genetic lines. Finally, a periodic influx of unrelated stock occurs, when feasible, in order to enhance the genetic base of captive populations. The application of these techniques will ensure that future releases utilize genetically viable animals, thereby improving the potential for successful reintroductions into the wild.

  6. Pathology Reports

    Science.gov (United States)

    ... Resources Conducting Clinical Trials Statistical Tools and Data Terminology Resources NCI Data Catalog Cryo-EM NCI's Role ... Report (RPPR) Grant Closeout Grant Resources NCI Grants Management Legal Requirements NCI Grant Policies Grants Management Contacts ...

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    Cohen SA

    2014-07-01

    Full Text Available Stephanie A Cohen,1 Anna Leininger2 1Cancer Genetics Risk Assessment Program, St Vincent Health, Indianapolis, IN, USA; 2Minnesota Oncology, Woodbury, MN, USA Abstract: 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. Keywords: Lynch syndrome, hereditary cancer, hereditary nonpolyposis colorectal cancer, mismatch repair, mismatch repair genes, immunohistochemistry, microsatellite instability

  9. 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

  10. Genetic structure of Mediterranean chukar ( Alectoris chukar, Galliformes) populations: conservation and management implications

    Science.gov (United States)

    Barbanera, Filippo; Marchi, Chiara; Guerrini, Monica; Panayides, Panicos; Sokos, Christos; Hadjigerou, Pantelis

    2009-10-01

    The chukar ( Alectoris chukar, Galliformes) is a species hunted throughout its native range from the East Mediterranean to Manchuria and in the USA, which hosts the world’s largest introduced population. This study aims to investigate the genetic structure of Mediterranean chukar populations to aid management decisions. We genotyped 143 specimens at two regions of the mitochondrial DNA (mtDNA: cytochrome b, control region) and eight loci of the microsatellite DNA. Samples were collected in northern (Limnos, Lesvos, Chios) and southern (Crete) Aegean islands (Greece) and Cyprus. We also carried out mtDNA-based comparison with chukars ( n = 124) from Asia (16 countries) and the USA (five states). We propose six management units for Mediterranean populations. Given their genetic integrity, Limnos and Cyprus, which host different subspecies, proved to be of primary conservation interest. We found exotic A. chukar mtDNA lineages in Lesvos, Chios and Crete and produced definitive genetic evidence for the Asian origin of the US chukars.

  11. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.

    Science.gov (United States)

    Zadeh, Neda; Getzug, Terri; Grody, Wayne W

    2011-03-01

    Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine.

  12. Mitochondrial and pedigree analysis in Przewalski's horse populations: implications for genetic management and reintroductions.

    Science.gov (United States)

    Liu, Gang; Xu, Chao-Qun; Cao, Qing; Zimmermann, Waltraut; Songer, Mellisa; Zhao, Sha-Sha; Li, Kai; Hu, De-Fu

    2014-08-01

    Przewalski's horses have been imported from the western zoos to China since 1985. Yet the genetic diversity in China's populations has not been studied, thus lacking of such knowledge inevitably affects this population's management. The aim of this study was to assess genetic diversity in Chinese population of Przewalski's horses via mitochondrial DNA (mtDNA) control region and pedigree analysis. Two captive and one reintroduced populations were examined based on mitochondrial DNA control region variation via fecal sampling from 2010 to 2012, together with pedigree analysis. Amplification success rates of fecal mtDNA were as high as 96.2% (93.8%-100%), and were higher for sample in winter than in summer and autumn. Two haplotypes were identified and shared among three populations, but the proportion of individuals with each haplotype varied among the three populations (F(ST) = 0.10874, p = 0.00978). Haplotype diversity in the released population (0.153) was much lower than that in the two captive populations (0.4011 and 0.4966), in accordance with the direction of increase in probability of identity at the dam lines. Future concerns in Przewalski's horse population management should emphasize on strict reproduction control to minimize inbreeding in captivity, followed by long-term genetic diversity guidelines and non-invasive monitoring in the reintroduction programmes.

  13. Pedigree analysis for the genetic management of group-living species.

    Science.gov (United States)

    Jiménez-Mena, Belén; Schad, Kristine; Hanna, Nick; Lacy, Robert C

    2016-05-01

    Captive breeding programs are an important tool for the conservation of endangered species. These programs are commonly managed using pedigrees containing information about the history of each individual's family, such as breeding pairs and parentage. However, there are some species that are kept in groups where it is hard to distinguish between particular individuals within the group, making it very difficult to record any information at an individual level. Currently, software and methods commonly used for registering and analyzing pedigrees to help manage populations at an individual level are not adequate for managing these group-living species. Therefore, there is a need to further develop these tools and methodologies for pedigree analysis to better manage group-living species. PMx is a program used for the management of ex situ populations in zoos and aquariums. We adapted the pedigree analysis method implemented in PMx to analyze pedigrees (records of descendant lineages) of group-living species. In addition, we developed a group pedigree data entry sheet and group2PMx, a converter program that enables group datasets to be imported into PMx. We show how pedigree analysis of a group-living species can be used for population management using the studbook of the endangered Texas blind cave salamander Eurycea rathbuni. Such analyses of the pedigree of groups can improve the management of group-living species in ex situ breeding programs. Firstly, it enables better management decisions based on more accurate genetic measures between groups, allowing for greater control of inbreeding. Secondly, it can improve the conditions in which group-living species are held by adapting husbandry practices to better reflect conditions of these species living in the wild. The use of the spreadsheet and group2PMx extends the application of PMx, allowing conservation managers and other institutions outside the zoo and aquarium community to easily import and analyze their

  14. 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...

  15. Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management

    Indian Academy of Sciences (India)

    Govindasamy Kumaramanickavel; Biju Joseph; Komaravelly Narayana; Sribhargava Natesh; Gandra Mamatha; Mahesh P. Shanmugam; Anuradha Elamparathi; Jyotirmay Biswas

    2003-04-01

    Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral retinoblastoma, underwent complete ophthalmic examination, cytogenetic study, retinoblastoma gene (RB1) mutational analysis and RB1 promoter region methylation screening. In the bilateral retinoblastoma patient deletion of chromosome region 13q14 in peripheral blood lymphocytes and a hemizygous novel 8-bp deletion in exon 4 of RB1 in tumour sample were observed. In the unilaterally affected patient CGA to TGA transition protein truncation mutations were observed in exons 8 and 14 of RB1.

  16. Genetic algorithm for autonomic joint radio resource management in end-to-end reconfigurable systems

    Institute of Scientific and Technical Information of China (English)

    ZENG Xian; MA Tao; LIN Yue-wei; FENG Zhi-yong

    2008-01-01

    This article presents the genetic algorithm (GA) asan autonomic approach for the joint radio resource management(JRRM) amongst heterogeneous radio access technologies(RATs) in the end-to-end reconfigurable systems. The jointsession admission control (JOSAC) and the bandwidth allocationare combined as a specific decision made by the operations ofthe genetic algorithm with certain advisable modifications. Theproposed algorithm is triggered on the following two conditions.When a session is initiated, it is triggered for the session tocamp on the most appropriate RAT and select the most suitablebandwidth for the desired service. When a session terminates, itis also used to adjust the distribution of the ongoing sessionsthrough the handovers. This will increase the adjustmentfrequency of the JRRM controller for the best systemperformance. Simulation results indicate that the proposedautonomic JRRM scheme not only effectively reduces thehandover times, but also achieves well trade-off between thespectrum utility and the blocking probability.

  17. Managing genetic tests, surveillance, and preventive medicine under a public health insurance system.

    Science.gov (United States)

    Filipova-Neumann, Lilia; Hoy, Michael

    2014-03-01

    There is a prospect in the medium to long term future of substantial advancements in the understanding of the relationship between disease and genetics. We consider the implications of increased information from genetic tests about predisposition to diseases from the perspective of managing health care provision under a public health insurance scheme. In particular, we consider how such information may potentially improve the targeting of medical surveillance (or prevention) activities to improve the chances of early detection of disease onset. We show that the moral hazard implications inherent in surveillance and prevention decisions that are chosen to be privately rather than socially optimal may be exacerbated by increased information about person-specific predisposition to disease.

  18. 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 alleles...... 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......., expected and observed heterozygosities in the total study population of 10.20, 0.75, and 0.69, respectively. Hierarchical analysis of molecular variance of mtDNA variation revealed significant differentiation among the 3 geographical regions studied (F(CT) = 0.264; P

  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. 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

  1. Genetic professionals' views on genetic counsellors: a French survey.

    Science.gov (United States)

    Cordier, Christophe; Taris, Nicolas; Moldovan, Ramona; Sobol, Hagay; Voelckel, Marie-Antoinette

    2016-01-01

    The genetic counselling profession was established in France in 2004. Eight years later, 122 genetic counsellors have graduated from the unique educational French program which awards the Professional Master Degree of Human Pathology, entitled "Master of Genetic Counselling and Predictive Medicine". As part of a global evaluation of this new profession by health genetic professionals, we undertook a national survey investigating various aspects such as employment, work responsibilities and integration. To our knowledge, this is the first study to investigate the views of genetic professionals on the genetic counsellors' role. Of 422 French professionals invited to take part in this study, 126 participated. The survey underlines that this profession is significantly recognized by physicians practicing within genetics departments. French genetic counsellors are allowed to manage consultations independently, without the necessary presence of a qualified medical geneticist but under his or her responsibility. Genetic counsellors participate in a wide range of consultations. They provide both information for relevant and for genetic testing and sometimes disclose the genetic test result to patient. Eventually, the role of genetic counsellors appears to be directly dependent from the relationship of trust between the two health professions.

  2. 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

  3. 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

    2017-03-26

    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.

  4. 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...

  5. 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.

  6. Adaptive introgression as a resource for management and genetic conservation in a changing climate.

    Science.gov (United States)

    Hamilton, Jill A; Miller, Joshua M

    2016-02-01

    Current rates of climate change require organisms to respond through migration, phenotypic plasticity, or genetic changes via adaptation. We focused on questions regarding species' and populations' ability to respond to climate change through adaptation. Specifically, the role adaptive introgression, movement of genetic material from the genome of 1 species into the genome of another through repeated interbreeding, may play in increasing species' ability to respond to a changing climate. Such interspecific gene flow may mediate extinction risk or consequences of limited adaptive potential that result from standing genetic variation and mutation alone, enabling a quicker demographic recovery in response to changing environments. Despite the near dismissal of the potential benefits of hybridization by conservation practitioners, we examined a number of case studies across different taxa that suggest gene flow between sympatric or parapatric sister species or within species that exhibit strong ecotypic differentiation may represent an underutilized management option to conserve evolutionary potential in a changing environment. This will be particularly true where advanced-generation hybrids exhibit adaptive traits outside the parental phenotypic range, a phenomenon known as transgressive segregation. The ideas presented in this essay are meant to provoke discussion regarding how we maintain evolutionary potential, the conservation value of natural hybrid zones, and consideration of their important role in adaptation to climate.

  7. Genetic and Epigenetic Contributions to Human Nutrition and Health: Managing Genome–Diet Interactions

    Science.gov (United States)

    STOVER, PATRICK J.; CAUDILL, MARIE A.

    2017-01-01

    The Institute of Medicine recently convened a workshop to review the state of the various domains of nutritional genomics research and policy and to provide guidance for further development and translation of this knowledge into nutrition practice and policy. Nutritional genomics holds the promise to revolutionize both clinical and public health nutrition practice and facilitate the establishment of (a) genome-informed nutrient and food-based dietary guidelines for disease prevention and healthful aging, (b) individualized medical nutrition therapy for disease management, and (c) better targeted public health nutrition interventions (including micronutrient fortification and supplementation) that maximize benefit and minimize adverse outcomes within genetically diverse human populations. As the field of nutritional genomics matures, which will include filling fundamental gaps in knowledge of nutrient–genome interactions in health and disease and demonstrating the potential benefits of customizing nutrition prescriptions based on genetics, registered dietitians will be faced with the opportunity of making genetically driven dietary recommendations aimed at improving human health. PMID:18755320

  8. MGIS: managing banana (Musa spp.) genetic resources information and high-throughput genotyping data

    Science.gov (United States)

    Guignon, V.; Sempere, G.; Sardos, J.; Hueber, Y.; Duvergey, H.; Andrieu, A.; Chase, R.; Jenny, C.; Hazekamp, T.; Irish, B.; Jelali, K.; Adeka, J.; Ayala-Silva, T.; Chao, C.P.; Daniells, J.; Dowiya, B.; Effa effa, B.; Gueco, L.; Herradura, L.; Ibobondji, L.; Kempenaers, E.; Kilangi, J.; Muhangi, S.; Ngo Xuan, P.; Paofa, J.; Pavis, C.; Thiemele, D.; Tossou, C.; Sandoval, J.; Sutanto, A.; Vangu Paka, G.; Yi, G.; Van den houwe, I.; Roux, N.

    2017-01-01

    Abstract Unraveling the genetic diversity held in genebanks on a large scale is underway, due to advances in Next-generation sequence (NGS) based technologies that produce high-density genetic markers for a large number of samples at low cost. Genebank users should be in a position to identify and select germplasm from the global genepool based on a combination of passport, genotypic and phenotypic data. To facilitate this, a new generation of information systems is being designed to efficiently handle data and link it with other external resources such as genome or breeding databases. The Musa Germplasm Information System (MGIS), the database for global ex situ-held banana genetic resources, has been developed to address those needs in a user-friendly way. In developing MGIS, we selected a generic database schema (Chado), the robust content management system Drupal for the user interface, and Tripal, a set of Drupal modules which links the Chado schema to Drupal. MGIS allows germplasm collection examination, accession browsing, advanced search functions, and germplasm orders. Additionally, we developed unique graphical interfaces to compare accessions and to explore them based on their taxonomic information. Accession-based data has been enriched with publications, genotyping studies and associated genotyping datasets reporting on germplasm use. Finally, an interoperability layer has been implemented to facilitate the link with complementary databases like the Banana Genome Hub and the MusaBase breeding database. Database URL: https://www.crop-diversity.org/mgis/

  9. Genetic use restriction technologies and possible applications in the integrated pest management

    Directory of Open Access Journals (Sweden)

    Giliardi Dalazen

    Full Text Available ABSTRACT: Genetic use restriction technologies (GURTs were developed to preserve the intellectual property of genetically modified crops (GM and ensure the return of investments made by industry to obtain technology delivered through seeds. The aims of this review are to discuss the GURTs and analyze their possible applications in integrated management of agricultural pests. There are two classes of GURTs: T-GURTs (trait-based GURTs, wherein the generated seed are viable, but the next generation does not express the trait of agronomic interest, and V-GURT (variety-based GURTs, in which plants produce non viable seeds. However, beyond the seed protection purpose, the GURTs could have also other application to solve agronomic problems. One of the most important is the use of GURTs as a tool to restrict gene flow of GM traits to relative weeds. In addition, it is proposed the use of this technology in integrated weed management by preventing the GMs seed germination, which produces volunteer plants that compete with the crop of interest. Also, these volunteer plants may serve as alternative hosts for insects and pathogens in between crop seasons. The GURTs could contribute to the control of undesirable agents in agricultural systems, reducing the use of pesticides and increasing crop yields.

  10. 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

  11. 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.

  12. 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.

  13. Impact of computer-assisted data collection, evaluation and management on the cancer genetic counselor's time providing patient care.

    Science.gov (United States)

    Cohen, Stephanie A; McIlvried, Dawn E

    2011-06-01

    Cancer genetic counseling sessions traditionally encompass collecting medical and family history information, evaluating that information for the likelihood of a genetic predisposition for a hereditary cancer syndrome, conveying that information to the patient, offering genetic testing when appropriate, obtaining consent and subsequently documenting the encounter with a clinic note and pedigree. Software programs exist to collect family and medical history information electronically, intending to improve efficiency and simplicity of collecting, managing and storing this data. This study compares the genetic counselor's time spent in cancer genetic counseling tasks in a traditional model and one using computer-assisted data collection, which is then used to generate a pedigree, risk assessment and consult note. Genetic counselor time spent collecting family and medical history and providing face-to-face counseling for a new patient session decreased from an average of 85-69 min when using the computer-assisted data collection. However, there was no statistically significant change in overall genetic counselor time on all aspects of the genetic counseling process, due to an increased amount of time spent generating an electronic pedigree and consult note. Improvements in the computer program's technical design would potentially minimize data manipulation. Certain aspects of this program, such as electronic collection of family history and risk assessment, appear effective in improving cancer genetic counseling efficiency while others, such as generating an electronic pedigree and consult note, do not.

  14. 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.

  15. Genes Predisposing to Thoracic Aortic Aneurysms and Dissections: Associated Phenotypes, Gene-Specific Management, and Genetic Testing

    Science.gov (United States)

    Milewicz, Dianna M.; Carlson, Alicia A.; Regalado, Ellen S.

    2011-01-01

    Thoracic aortic aneurysms leading to type A dissections (TAAD) are the major diseases affecting the aorta. A genetic predisposition for TAAD can occur as part of a genetic syndrome, as is the case for Marfan syndrome, due to mutations in FBN1, and Loeys-Dietz syndrome, which results from mutations in either TGFBR1 or TGFBR2. A predisposition to TAAD in the absence of syndromic features can be inherited in an autosomal dominant manner with decreased penetrance and variable expression, termed familial TAAD. Familial TAAD exhibits clinical and genetic heterogeneity. Genetic heterogeneity for familial TAAD has been demonstrated by the identification of four genes leading to TAAD, including TGFBR2 and TGFBR1, MYH11, and ACTA2. The phenotype and management of patients harboring mutations in these genes, along with genetic testing, will be addressed in this review. PMID:20452526

  16. 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

  17. Does population genetic structure support present management regulations of the northern shrimp (Pandalus borealis) in Skagerrak and the North Sea?

    DEFF Research Database (Denmark)

    Knutsen, Halvor; Jorde, Per Erik; Gonzalez, Enrique Blanco;

    2015-01-01

    Population structuring in the northern shrimp (Pandalus borealis) in the North Sea area (including Fladen and Skagerrak) was studied by microsatellite DNA analyses. Screening 20 sample locations in the open ocean and Skagerrak fjords for nine loci revealed low but significant genetic heterogeneity....... The spatial genetic structure among oceanic samples of Skagerrak and the eastern North Sea was weak and non-significant, consistent with the current management regime of one single stock. However, Skagerrak fjord samples generally displayed elevated levels of genetic differentiation, and significantly so...

  18. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

    Science.gov (United States)

    Khan, Naheed L; Jain, Shushant; Lynch, John M; Pavese, Nicola; Abou-Sleiman, Patrick; Holton, Janice L; Healy, Daniel G; Gilks, William P; Sweeney, Mary G; Ganguly, Milan; Gibbons, Vaneesha; Gandhi, Sonia; Vaughan, Jenny; Eunson, Louise H; Katzenschlager, Regina; Gayton, Juliet; Lennox, Graham; Revesz, Tamas; Nicholl, David; Bhatia, Kailash P; Quinn, Niall; Brooks, David; Lees, Andrew J; Davis, Mary B; Piccini, Paola; Singleton, Andrew B; Wood, Nicholas W

    2005-12-01

    We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's disease where affected subjects share a Y1699C missense mutation we provide a detailed clinical, pathological and imaging report. The phenotype in this large British kindred included asymmetrical, levodopa-responsive parkinsonism where unilateral leg tremor at onset and foot dystonia were prominent features. There was no significant abnormality of cognition but there was prominent behavioural disorder. We observed a lower age of onset in successive generations. Histopathology in one patient showed substantia nigra cell loss and Lewy body formation, with small numbers of cortical Lewy bodies. 18F-dopa positron emission tomography (PET) in another patient showed a pattern of nigrostriatal dysfunction typical of idiopathic Parkinson's disease. 18F-dopa-PET scans in unaffected family members prior to identifying the disease locus did not detect subclinical nigrostriatal dysfunction. Olfaction was assessed in affected subjects and Lewy bodies were identified in the olfactory bulb as well as cortex and brainstem of one deceased patient. In order to assess the role of mutations in this gene in other familial cases we undertook a mutation screen of all 51 exons of LRRK2 in 117 other smaller British kindreds with familial Parkinson's disease. The commonest mutation was G2019S and we also identified two novel mutations, R1941H and T2356I, in the coding sequence. These data suggest that parkinsonism caused by mutations in LRRK2 is likely to represent the commonest locus for autosomal dominant Parkinson's disease with a phenotype, pathology and in vivo imaging similar to idiopathic, late-onset Parkinson's disease.

  19. A genetic comparison of West Greenland and Baffin Island (Canada walruses: Management implications

    Directory of Open Access Journals (Sweden)

    Liselotte Wesley Andersen

    2014-12-01

    Full Text Available Until recently Atlantic walruses (Odobenus rosmarus rosmarus have been subject to relatively intense exploitation in West Greenland. Animals in this stock have also been hunted in Nunavut/Canada. However, the demographic identity of these animals and their connection with walruses in neighbouring areas is poorly resolved, hampering the determination of sustainable harvest levels. It has been suggested that walruses in West Greenland are genetically linked with walruses at SE Baffin Island (Canada where they are also hunted for subsistence purposes. To determine the relationship(s between walruses in these areas we conducted a genetic analysis including recent samples from West Greenland, Southeast Baffin Island in western Davis Strait, Hudson Strait in Canada and Northwest Greenland in northern Baffin Bay. Seventeen microsatellite markers were applied to all samples. Walruses in West Greenland and at Southeast Baffin Island did not differ from each other and therefore may be regarded as belonging to the same stock. However, walruses in these two areas differed genetically from both Northwest Greenland and Hudson Strait walruses. These findings support (1 that there are subunits within the range of walruses in the Hudson Strait-Davis Strait-Baffin Bay region and (2 that walruses along E Baffin Island and W Greenland constitute a common population that receive some influx from Hudson Strait. Thus, sustainable catch levels in Southeast Baffin Island (Nunavut and in West Greenland must be set in light of the finding that they belong to the same stock, which is exploited in these two areas. This requires Canadian-Greenlandic co-management of the W Greenland-SE Baffin Island walrus stock.

  20. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

    Directory of Open Access Journals (Sweden)

    Leoz ML

    2015-04-01

    Full Text Available Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS, Barcelona, Catalonia, Spain Abstract: Familial adenomatous polyposis (FAP is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP. FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC, and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP. Keywords: colorectal cancer, familial adenomatous polyposis, MAP, APC, MUTYH

  1. Genetic Diversity Strategy for the Management and Use of Rubber Genetic Resources: More than 1,000 Wild and Cultivated Accessions in a 100-Genotype Core Collection.

    Directory of Open Access Journals (Sweden)

    Livia Moura de Souza

    Full Text Available The rubber tree [Hevea brasiliensis (Willd. ex Adr. de Juss. Muell. Arg.] is the only plant species worldwide that is cultivated for the commercial production of natural rubber. This study describes the genetic diversity of the Hevea spp. complex that is available in the main ex situ collections of South America, including Amazonian populations that have never been previously described. Genetic data were analyzed to determine the genetic structure of the wild populations, quantify the allelic diversity and suggest the composition of a core collection to capture the maximum genetic diversity within a minimal sample size. A total of 1,117 accessions were genotyped with 13 microsatellite markers. We identified a total of 408 alleles, 319 of which were shared between groups and 89 that were private in different groups of accessions. In a population structure and principal component analysis, the level of clustering reflected a primary division into the following two subgroups: cluster 1, which consisted of varieties from the advanced breeding germplasm that originated from the Wickham and Mato Grosso accessions; and cluster 2, which consisted of the wild germplasm from the Acre, Amazonas, Pará and Rondônia populations and Hevea spp. The analyses revealed a high frequency of gene flow between the groups, with the genetic differentiation coefficient (GST estimated to be 0.018. Additionally, no distinct separation among the H. brasiliensis accessions and the other species from Amazonas was observed. A core collection of 99 accessions was identified that captured the maximum genetic diversity. Rubber tree breeders can effectively utilize this core collection for cultivar improvement. Furthermore, such a core collection could provide resources for forming an association panel to evaluate traits with agronomic and commercial importance. Our study generated a molecular database that should facilitate the management of the Hevea germplasm and its use for

  2. Genetic Diversity Strategy for the Management and Use of Rubber Genetic Resources: More than 1,000 Wild and Cultivated Accessions in a 100-Genotype Core Collection

    Science.gov (United States)

    Cerqueira-Silva, Carlos Bernardo Moreno; Silva, Carla Cristina; Mantello, Camila Campos; Conson, Andre Ricardo Oliveira; Vianna, João Paulo Gomes; Zucchi, Maria Imaculada; Scaloppi Junior, Erivaldo José; Fialho, Josefino de Freitas; de Moraes, Mario Luis Teixeira; Gonçalves, Paulo de Souza; de Souza, Anete Pereira

    2015-01-01

    The rubber tree [Hevea brasiliensis (Willd. ex Adr. de Juss.) Muell. Arg.] is the only plant species worldwide that is cultivated for the commercial production of natural rubber. This study describes the genetic diversity of the Hevea spp. complex that is available in the main ex situ collections of South America, including Amazonian populations that have never been previously described. Genetic data were analyzed to determine the genetic structure of the wild populations, quantify the allelic diversity and suggest the composition of a core collection to capture the maximum genetic diversity within a minimal sample size. A total of 1,117 accessions were genotyped with 13 microsatellite markers. We identified a total of 408 alleles, 319 of which were shared between groups and 89 that were private in different groups of accessions. In a population structure and principal component analysis, the level of clustering reflected a primary division into the following two subgroups: cluster 1, which consisted of varieties from the advanced breeding germplasm that originated from the Wickham and Mato Grosso accessions; and cluster 2, which consisted of the wild germplasm from the Acre, Amazonas, Pará and Rondônia populations and Hevea spp. The analyses revealed a high frequency of gene flow between the groups, with the genetic differentiation coefficient (GST) estimated to be 0.018. Additionally, no distinct separation among the H. brasiliensis accessions and the other species from Amazonas was observed. A core collection of 99 accessions was identified that captured the maximum genetic diversity. Rubber tree breeders can effectively utilize this core collection for cultivar improvement. Furthermore, such a core collection could provide resources for forming an association panel to evaluate traits with agronomic and commercial importance. Our study generated a molecular database that should facilitate the management of the Hevea germplasm and its use for subsequent genetic

  3. 医院病理资料管理方法的探讨%Management Method for Pathological Information in Hospital

    Institute of Scientific and Technical Information of China (English)

    张伟; 陈晓东; 周永梅; 彭大云; 陈敬文

    2012-01-01

    本文就建立一个既节省时间与空间,又提高工作效率的信息与实物相结合的病理资料管理新方法,介绍借助计算机与密集柜相结合的病理资料管理新模式;该模式既顺应新形式下医疗发展的需求,又能在教学与科研等回顾性研究及医疗纠纷的举证中发挥重要作用.%The article was intended to describe a new model of pathological data management through combination computers with filing cabinet. It was convenient for work and in good effect because of time and space saving, productivity increase, combination of information and entity. The new mode did not only meet the medical development needs in new medical forms, but also play an important role in retrospective study on teaching and scientific researc h, as well as providing evidence for medical disputes.

  4. Genetic differences among patients of different races with different pathological phenotypes of malignant melanoma%不同病理类型及种族恶性黑素瘤遗传学差异

    Institute of Scientific and Technical Information of China (English)

    徐晨琛; 刘跃华

    2013-01-01

    恶性黑素瘤是一种起源于黑素细胞的高度恶性肿瘤,在西方国家的发病率很高,但对于发病率相对较低的黄种人及其他有色人种,黑素瘤的常见病理类型和相应的遗传学改变和分子机制有很大的不同.白种人常见的病理类型是非慢性阳光损伤型恶性黑素瘤,遗传学上以BRAF和NRAS基因突变多见,亚洲人及其他有色人种常见的病理类型是肢端型及黏膜型恶性黑素瘤,以kit变异和CCND1扩增多见.通过对不同病理类型的恶性黑素瘤的遗传学改变的研究,有助于疾病的早期基因诊断和靶向治疗药物的研发.%Malignant melanoma is a highly malignant tumor originating from melanocytes.The incidence of malignant melanoma is high in Caucasians,but low in the other colored races,such as the yellow race.Also,malignant melanoma varies considerably with races in common pathological phenotypes,genetic changes,and molecular mechanisms.Melanoma arising on skin without chronic sun damage is relatively common in Caucasians,with BRAF and NRAS mutations as the frequent genetic alterations,while kit mutation and cyclin D1 amplification are frequent in acral and mucosal melanomas,which are commonly seen in Asians or other colored races.To assess the difference in genetic alterations between melanomas of different pathological types may benefit the genetic diagnosis of,as well as development of targeted drugs for,melanoma.

  5. Germline and somatic genetic predictors of pathological response in neoadjuvant settings of rectal and esophageal cancers: systematic review and meta-analysis.

    Science.gov (United States)

    Salnikova, L E; Kolobkov, D S

    2016-06-01

    Oncologists have pointed out an urgent need for biomarkers that can be useful for clinical application to predict the susceptibility of patients to preoperative therapy. This review collects, evaluates and combines data on the influence of reported somatic and germline genetic variations on histological tumor regression in neoadjuvant settings of rectal and esophageal cancers. Five hundred and twenty-seven articles were identified, 204 retrieved and 61 studies included. Among 24 and 14 genetic markers reported for rectal and esophageal cancers, respectively, significant associations in meta-analyses were demonstrated for the following markers. In rectal cancer, major response was more frequent in carriers of the TYMS genotype 2 R/2 R-2 R/3 R (rs34743033), MTHFR genotype 677C/C (rs1801133), wild-type TP53 and KRAS genes. In esophageal cancer, successful therapy appeared to correlate with wild-type TP53. These results may be useful for future research directions to translate reported data into practical clinical use.

  6. 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.

  7. Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management.

    Science.gov (United States)

    Baxi, Ameya Jagdish; Restrepo, Carlos S; Vargas, Daniel; Marmol-Velez, Alejandro; Ocazionez, Daniel; Murillo, Horacio

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of diseases related to sarcomere gene mutations exhibiting heterogeneous phenotypes with an autosomal dominant mendelian pattern of inheritance. The disorder is characterized by diverse phenotypic expressions and variable natural progression, which may range from dyspnea and/or syncope to sudden cardiac death. It is found across all racial groups and is associated with left ventricular hypertrophy in the absence of another systemic or cardiac disease. The management of HCM is based on a thorough understanding of the underlying morphology, pathophysiology, and clinical course. Imaging findings of HCM mirror the variable expressivity and penetrance heterogeneity, with the added advantage of diagnosis even in cases where a specific mutation may not yet be found. The diagnostic information obtained from imaging varies depending on the specific stage of HCM-phenotype manifestation, including the prehypertrophic, hypertrophic, and later stages of adverse remodeling into the burned-out phase of overt heart failure. However, subtle or obvious, these imaging findings become critical components in diagnosis, management, and follow-up of HCM patients. Although diagnosis of HCM traditionally relies on clinical assessment and transthoracic echocardiography, recent studies have demonstrated increased utility of multidetector computed tomography (CT) and particularly cardiac magnetic resonance (MR) imaging in diagnosis, phenotype differentiation, therapeutic planning, and prognostication. In this article, we provide an overview of the genetics, pathophysiology, and clinical manifestations of HCM, with the spectrum of imaging findings at MR imaging and CT and their contribution in diagnosis, risk stratification, and therapy.

  8. Multiobjective fuel management optimization for self-fuel-providing LMFBR using genetic algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Toshinsky, Vladimir G.; Sekimoto, Hiroshi [Research Laboratory for Nuclear Reactors, Tokyo Institute of Technology, O-Okayama, Meguro-ku, Tokyo (Japan); Toshinsky, Georgy I. [State Scientific Center, Institute of Physics and Power Engineering, Obninsk (Russian Federation)

    1999-06-01

    One of the conceptual options under consideration for the future of nuclear power is the long-term development without fuel reprocessing. This concept is based on a reactor that requires no plutonium reprocessing for itself, and provides high efficiency of natural uranium utilization, so called Self-Fuel-Providing LMFBR (SFPR). Several design considerations were previously given to this reactor type which, however, suffer from some problems connected with insufficient power flattening, large reactivity swings during burnup cycles, and peak fuel burnup being significantly higher than recent technology experience, which is about 18% for U-10 wt%Zr metallic fuel to be considered. Yet, the mentioned core parameters demonstrate high sensitivity to the fuel management strategy selected for the reactor. Therefore, the aim of this study is to develop a practical tool for the improvement of the core characteristics by fuel management optimization, which is based on advanced optimization techniques such as Genetic Algorithms (GA). The calculation results obtained by a simplified reactor model can serve as estimates of achievable values for mentioned core parameters, which are necessary to make decisions at the preliminary optimization stage.

  9. Genetic diversity and the genetic structure of natural populations of Chamaecyparis obtusa: implications for management and conservation.

    Science.gov (United States)

    Tsumura, Y; Matsumoto, A; Tani, N; Ujino-Ihara, T; Kado, T; Iwata, H; Uchida, K

    2007-08-01

    We investigated 25 natural populations of Chamaecyparis obtusa using 51 cleaved amplified polymorphic sequence (CAPS) markers, which were developed using information on sequence-tagged sites (STS) in Cryptomeria japonica. Most CAPS markers have codominant expression patterns, and are suitable for population studies because of their robustness and convenience. We estimated various genetic diversity parameters, including average heterozygosity (H(e)) and allelic richness and found that the more peripheral populations tended to have lower genetic diversity than central populations, in agreement with a previous theoretical study. The overall genetic differentiation between populations was low, but statistically significant (G(ST)=0.039), and similar to the level reported in a previous allozyme study. We attempted to detect non-neutral loci associated with local adaptation to clarify the relationship between the fixation index (F(ST)) and H(e) values for each locus and found seven candidates non-neutral loci. Phylogenetic tree analysis of the populations and Bayesian clustering analysis revealed a pattern of gradually increasing isolation of populations with increasing geographical distance. Three populations had a high degree of linkage disequilibrium, which we attribute to severe bottlenecks due to human disturbance or competition with other species during their migration from refugia after the most recent glaciation. We concluded that the small populations in western Japan and in Kanto district are more important, from a conservation perspective, than the populations in central Japan, due to their genetic divergence, relatively small sizes and restricted areas.

  10. Within-population genetic structure in beech (Fagus sylvatica L.) stands characterized by different disturbance histories: does forest management simplify population substructure?

    NARCIS (Netherlands)

    Piotti, A.; Leonardi, S.; Heuertz, M.; Buiteveld, J.; Geburek, T.; Gerber, S.; Kramer, K.; Vettori, C.; Vendramin, G.G.

    2013-01-01

    The fine-scale assessment of both spatially and non-spatially distributed genetic variation is crucial to preserve forest genetic resources through appropriate forest management. Cryptic within-population genetic structure may be more common than previously thought in forest tree populations, which

  11. Within-population genetic structure in beech (Fagus sylvatica L.) stands characterized by different disturbance histories: does forest management simplify population substructure?

    NARCIS (Netherlands)

    Piotti, A.; Leonardi, S.; Heuertz, M.; Buiteveld, J.; Geburek, T.; Gerber, S.; Kramer, K.; Vettori, C.; Vendramin, G.G.

    2013-01-01

    The fine-scale assessment of both spatially and non-spatially distributed genetic variation is crucial to preserve forest genetic resources through appropriate forest management. Cryptic within-population genetic structure may be more common than previously thought in forest tree populations, which

  12. 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.)…

  13. 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.)…

  14. Procedures and best management practices for genetically engineered traits in USDA/ARS germplasm and breeding lines

    Science.gov (United States)

    Two decades have passed since the commercialization in the U. S. of crops with genetically engineered (GE) traits. Today more than 80% of corn, soybean, canola, sugar beet and cotton acreage in the United States is planted to transgenic cultivars, but concerns exist regarding how best to manage the ...

  15. 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)

  16. Linking noninvasive genetic sampling and traditional monitoring to aid management of a trans-border carnivore population.

    Science.gov (United States)

    Bischof, Richard; Swenson, Jon E

    2012-01-01

    Noninvasive genetic sampling has been embraced by wildlife managers and ecologists, especially those charged with monitoring rare and elusive species over large areas. Challenges arise when desired population measures are not directly attainable from genetic data and when monitoring targets trans-border populations. Norwegian management authorities count individual brown bears (Ursus arctos) using noninvasive genetic sampling but express management goals in the annual number of bear reproductions (females that produce cubs), a measure that is not directly available from genetic data. We combine noninvasive genetic sampling data with information obtained from a long-term intensive monitoring study in neighboring Sweden to estimate the number of annual reproductions by females detected within Norway. Most female brown bears in Norway occur near the border with neighboring countries (Sweden, Finland, and Russia) and their potential reproduction can therefore only partially be credited to Norway. Our model includes a simulation-based method that corrects census data to account for this. We estimated that 4.3 and 5.7 reproductions can be credited to females detected with noninvasive genetic sampling in Norway in 2008 and 2009, respectively. These numbers fall substantially short of the national target (15 annual reproductions). Ignoring the potential for home ranges to extend beyond Norway's borders leads to an increase in the estimate of the number of reproductions by -30%. Our study shows that combining noninvasive genetic sampling with information obtained from traditional intensive/invasive monitoring can help answer contemporary management questions in the currency desired by managers and policy makers. Furthermore, combining methodologies and thereby accounting for space use increases the accuracy of the information on which decisions are based. It is important that the information derived from multiple approaches is applicable to the same focal population and

  17. No increases in biomarkers of genetic damage or pathological changes in heart and brain tissues in male rats administered methylphenidate hydrochloride (Ritalin) for 28 days.

    Science.gov (United States)

    Witt, Kristine L; Malarkey, David E; Hobbs, Cheryl A; Davis, Jeffrey P; Kissling, Grace E; Caspary, William; Travlos, Gregory; Recio, Leslie

    2010-01-01

    Following a 2005 report of chromosomal damage in children with attention deficit/hyperactivity disorder (ADHD) who were treated with the commonly prescribed medication methylphenidate (MPH), numerous studies have been conducted to clarify the risk for MPH-induced genetic damage. Although most of these studies reported no changes in genetic damage endpoints associated with exposure to MPH, one recent study (Andreazza et al. [2007]: Prog Neuropsychopharmacol Biol Psychiatry 31:1282-1288) reported an increase in DNA damage detected by the Comet assay in blood and brain cells of Wistar rats treated by intraperitoneal injection with 1, 2, or 10 mg/kg MPH; no increases in micronucleated lymphocyte frequencies were observed in these rats. To clarify these findings, we treated adult male Wistar Han rats with 0, 2, 10, or 25 mg/kg MPH by gavage once daily for 28 consecutive days and measured micronucleated reticulocyte (MN-RET) frequencies in blood, and DNA damage in blood, brain, and liver cells 4 hr after final dosing. Flow cytometric evaluation of blood revealed no significant increases in MN-RET. Comet assay evaluations of blood leukocytes and cells of the liver, as well as of the striatum, hippocampus, and frontal cortex of the brain showed no increases in DNA damage in MPH-treated rats in any of the three treatment groups. Thus, the previously reported observations of DNA damage in blood and brain tissue of rats exposed to MPH for 28 days were not confirmed in this study. Additionally, no histopathological changes in brain or heart, or elevated serum biomarkers of cardiac injury were observed in these MPH-exposed rats.

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

    Directory of Open Access Journals (Sweden)

    Tetyana Kobets

    Full Text Available BACKGROUND: Leishmaniasis is a disease caused by protozoan parasites of genus Leishmania. The frequent involvement of Leishmania tropica in human leishmaniasis has been recognized only recently. Similarly as L. major, L. tropica causes cutaneous leishmaniasis in humans, but can also visceralize and cause systemic illness. The relationship between the host genotype and disease manifestations is poorly understood because there were no suitable animal models. METHODS: We studied susceptibility to L. tropica, using BALB/c-c-STS/A (CcS/Dem recombinant congenic (RC strains, which differ greatly in susceptibility to L. major. Mice were infected with L. tropica and skin lesions, cytokine and chemokine levels in serum, and parasite numbers in organs were measured. PRINCIPAL FINDINGS: Females of BALB/c and several RC strains developed skin lesions. In some strains parasites visceralized and were detected in spleen and liver. Importantly, the strain distribution pattern of symptoms caused by L. tropica was different from that observed after L. major infection. Moreover, sex differently influenced infection with L. tropica and L. major. L. major-infected males exhibited either higher or similar skin pathology as females, whereas L. tropica-infected females were more susceptible than males. The majority of L. tropica-infected strains exhibited increased levels of chemokines CCL2, CCL3 and CCL5. CcS-16 females, which developed the largest lesions, exhibited a unique systemic chemokine reaction, characterized by additional transient early peaks of CCL3 and CCL5, which were not present in CcS-16 males nor in any other strain. CONCLUSION: Comparison of L. tropica and L. major infections indicates that the strain patterns of response are species-specific, with different sex effects and largely different host susceptibility genes.

  19. 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.

  20. 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.

  1. 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.

  2. Genetic analysis of clinical mastitis data from on-farm management software using threshold models.

    Science.gov (United States)

    Zwald, N R; Weigel, K A; Chang, Y M; Welper, R D; Clay, J S

    2006-01-01

    Producer-recorded clinical mastitis data from 77,791 cows in 418 herds were used to determine the potential for genetic improvement of mastitis resistance using data from on-farm management software programs. The following threshold sire models were applied: 1) a single-trait lactation model, where mastitis was recorded as 0 or 1 in first lactation only; 2) a 3-trait lactation model, where mastitis was recorded as 0 or 1 in each of the first 3 lactations, and 3) a 12-trait, lactation-segment model, where mastitis was recorded as 0 or 1 in each of 4 segments (0 to 50, 51 to 155, 156 to 260, and 261 to 365 d postpartum) in each of the first 3 lactations. Lactation incidence rates were 0.16, 0.20, and 0.24 in first, second, and third lactation, respectively, and incidence rates within various segments of these lactations ranged from 0.036 in late first lactation to 0.093 in early third lactation. Estimated heritability of liability to clinical mastitis ranged from 0.07 to 0.15, depending on the model and stage of lactation. Heritability estimates were higher in first lactation than in subsequent lactations, but estimates were generally similar for different segments of the same lactation. Genetic correlations between lactations from the 3-trait model ranged from 0.42 to 0.49, while correlations between segments within lactation from the 12-trait model ranged from 0.26 to 0.64. Based on the results presented herein, it appears that at least 2 segments are needed per lactation, because mastitis in early lactation is lowly correlated with mastitis in mid or late lactation. Predicted transmitting abilities of sires ranged from 0.77 to 0.89 for probability of no mastitis during the first lactation and from 0.36 to 0.59 for probability of no mastitis during the first 3 lactations. Overall, this study shows that farmer-recorded clinical mastitis data can make a valuable contribution to genetic selection programs, but additional systems for gathering and storing this

  3. Pathology of hepatic iron overload

    Institute of Scientific and Technical Information of China (English)

    Yves Deugnier; Bruno Turlin

    2007-01-01

    Although progress in imaging and genetics allow for a noninvasive diagnosis of most cases of genetic iron overload, liver pathology remains often useful (1) to assess prognosis by grading fibrosis and seeking for associated lesions and (2) to guide the etiological diagnosis, especially when no molecular marker is available.Then, the type of liver siderosis (parenchymal, mesenchymal or mixed) and its distribution throughout the lobule and the liver are useful means for suggesting its etiology: HLA-linked hemochromatosis gene (HFE) hemochromatosis or other rare genetic hemochromatosis,nonhemochromatotic genetic iron overload (ferroportin disease, aceruloplasminemia), or iron overload secondary to excessive iron supply, inflammatory syndrome,noncirrhotic chronic liver diseases including dysmetabolic iron overload syndrome, cirrhosis, and blood disorders.

  4. 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.

    the laboratory methods and genetic interpretation of gel phenotypes along with statistical methods for data analysis. The applications and perspectives for identifying and protecting genetic variation within and among marine populations are discussed in the light...

  5. Applying GIS and population genetics for managing livestock insect pests: case studies of tsetse and screwworm flies.

    Science.gov (United States)

    Feldmann, U; Ready, P D

    2014-10-01

    The Food and Agriculture Organization of the United Nations (FAO) and the International Atomic Energy Agency (IAEA) have supported a Co-ordinated Research Project (CRP) on 'Applying GIS and population genetics for managing livestock insect pests'. This six-year CRP (2008-2013) focused on research aimed at under-pinning the Area-Wide Integrated Pest Management (AW-IPM) of populations of tsetse and screwworm flies, and this introductory paper to the Special Issue integrates the findings of the CRP participants and discusses them in a broader context. The tools and techniques for mapping and modelling the distributions of genetically-characterised populations of tsetse and screwworm flies are increasingly used by researchers and managers for more effective decision-making in AW-IPM programmes, as illustrated by the reports in this Special Issue. Currently, the insect pests are often characterized only by neutral genetic markers suitable for recognizing spatially isolated populations that are sometimes associated with specific environments. Two challenges for those involved in AW-IPM are the standardization of best practice to permit the efficient application of GIS and genetic tools by regional teams, and the need to develop further the mapping and modelling of parasite and pest phenotypes that are epidemiologically important. Copyright © 2014 International Atomic Energy Agency 2014. Published by Elsevier B.V. All rights reserved.

  6. Hypertrophic cardiomyopathy: Part 1 - Introduction, pathology and pathophysiology

    Directory of Open Access Journals (Sweden)

    Praveen Kerala Varma

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common genetic cardiovascular disease with many genotype and phenotype variations. Earlier terminologies, hypertrophic obstructive cardiomyopathy and idiopathic hypertrophic sub-aortic stenosis are no longer used to describe this entity. Patients present with or without left ventricular outflow tract (LVOT obstruction. Resting or provocative LVOT obstruction occurs in 70% of patients and is the most common cause of heart failure. The pathology and pathophysiology of HCM includes hypertrophy of the left ventricle with or without right ventricular hypertrophy, systolic anterior motion of mitral valve, dynamic and mechanical LVOT obstruction, mitral regurgitation, diastolic dysfunction, myocardial ischemia, and fibrosis. Thorough understanding of pathology and pathophysiology is important for anesthetic and surgical management.

  7. Genetic conservation and management of the California endemic, Torrey pine (Pinus torreyana Parry): implications of genetic rescue in a genetically depauperate species

    Science.gov (United States)

    Jill A. Hamilton; Raphaël Royauté; Jessica W. Wright; Paul Hodgskiss; F. Thomas Ledig

    2017-01-01

    Rare species present a challenge under changing environmental conditions as the genetic consequences of rarity may limit species ability to adapt to environmental change. To evaluate the evolutionary potential of a rare species, we assessed variation in traits important to plant fitness using multigenerational common garden experiments. Torrey pine, ...

  8. Elephant behaviour and conservation: social relationships, the effects of poaching, and genetic tools for management.

    Science.gov (United States)

    Archie, Elizabeth A; Chiyo, Patrick I

    2012-02-01

    Genetic tools are increasingly valuable for understanding the behaviour, evolution, and conservation of social species. In African elephants, for instance, genetic data provide basic information on the population genetic causes and consequences of social behaviour, and how human activities alter elephants' social and genetic structures. As such, African elephants provide a useful case study to understand the relationships between social behaviour and population genetic structure in a conservation framework. Here, we review three areas where genetic methods have made important contributions to elephant behavioural ecology and conservation: (1) understanding kin-based relationships in females and the effects of poaching on the adaptive value of elephant relationships, (2) understanding patterns of paternity in elephants and how poaching can alter these patterns, and (3) conservation genetic tools to census elusive populations, track ivory, and understand the behavioural ecology of crop-raiding. By comparing studies from populations that have experienced a range of poaching intensities, we find that human activities have a large effect on elephant behaviour and genetic structure. Poaching disrupts kin-based association patterns, decreases the quality of elephant social relationships, and increases male reproductive skew, with important consequences for population health and the maintenance of genetic diversity. In addition, we find that genetic tools to census populations or gather forensic information are almost always more accurate than non-genetic alternatives. These results contribute to a growing understanding of poaching on animal behaviour, and how genetic tools can be used to understand and conserve social species. © 2011 Blackwell Publishing Ltd.

  9. The population genetics of using homing endonuclease genes in vector and pest management.

    Science.gov (United States)

    Deredec, Anne; Burt, Austin; Godfray, H C J

    2008-08-01

    Homing endonuclease genes (HEGs) encode proteins that in the heterozygous state cause double-strand breaks in the homologous chromosome at the precise position opposite the HEG. If the double-strand break is repaired using the homologous chromosome, the HEG becomes homozygous, and this represents a powerful genetic drive mechanism that might be used as a tool in managing vector or pest populations. HEGs may be used to decrease population fitness to drive down population densities (possibly causing local extinction) or, in disease vectors, to knock out a gene required for pathogen transmission. The relative advantages of HEGs that target viability or fecundity, that are active in one sex or both, and whose target is expressed before or after homing are explored. The conditions under which escape mutants arise are also analyzed. A different strategy is to place HEGs on the Y chromosome that cause one or more breaks on the X chromosome and so disrupt sex ratio. This strategy can cause severe sex-ratio biases with efficiencies that depend on the details of sperm competition and zygote mortality. This strategy is probably less susceptible to escape mutants, especially when multiple X shredders are used.

  10. Genetic algorithms in supply chain management: A critical analysis of the literature

    Indian Academy of Sciences (India)

    SUNIL KUMAR JAUHAR; MILLIE PANT

    2016-09-01

    Genetic algorithms (GAs) are perhaps the oldest and most frequently used search techniques for dealing with complex and intricate real-life problems that are otherwise difficult to solve by the traditional methods. The present article provides an extensive literature review of the application of GA on supply chain management (SCM). SCM consists of several intricate processes and each process is equally important formaintaining a successful supply chain. In this paper, eight processes (where each process has a set of subprocesses) as given by Council of SCM Professionals (CSCMF) are considered. The idea is to review the application of GA on these aspects and to provide the readers a detailed study in this area. The authors have considered more than 220 papers covering a span of nearly two decades for this study. The analysis is shown in detail with the help of graphs and tables. It is expected that such an extensive study will encourage and motivate the fellow researchers working in related area; to identify the gaps and to come up with innovative ideas.

  11. 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.

  12. Genetic diversity in commercial wineries: effects of the farming system and vinification management on wine yeasts.

    Science.gov (United States)

    Tello, J; Cordero-Bueso, G; Aporta, I; Cabellos, J M; Arroyo, T

    2012-02-01

    Analysis of the diversity and distribution of wine yeasts isolated from organically and conventionally grown grapes, and during the subsequent fermentation with or without starter cultures in six different commercial wineries. PCR-RFLP screening of isolates revealed the involvement of ten different species. Saccharomyces cerevisiae, scarcely isolated from grapes, was the dominant species during the latter phases of fermentation, identifying 108 different genotypes by means of SSR analysis. Species and strains' diversity and presence were strongly influenced by the farming system used to grow the grapes and the system of vinification. Organic farming management was more beneficial in terms of diversity and abundance than the conventional one. Induced fermentation generated a great replacement of native yeasts. Although winery-resident yeasts resulted to be predominant in the process, some noncommercial strains originally in the vineyard were found in final stages of the fermentation, confirming that autochthonous strains of S. cerevisiae are capable to conduct the fermentation process up to its end. The study of natural yeast communities from commercial vineyards and wineries is an important step towards the preservation of native genetic resources. Our results have special relevance because it is the first time that the real situation of the yeast ecology of alcoholic fermentation in commercial wineries belonging to the relevant wine-producing Appellation of Origin 'Vinos de Madrid' is shown. © 2012 The Authors. Journal of Applied Microbiology © 2012 The Society for Applied Microbiology.

  13. 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.

  14. 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.

  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. 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....

  17. 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.

  18. Forensic Pathology Education in Pathology Residency

    Science.gov (United States)

    Ross, Wayne K.; Domen, Ronald E.

    2017-01-01

    Forensic pathology is a fundamental part of anatomic pathology training during pathology residency. However, the lack of information on forensic teaching suggests the highly variable nature of forensic education. A survey of pathology residency program directors was performed to determine key aspects of their respective forensic rotations and curriculum. A total of 38.3% of programs from across the country responded, and the survey results show 5.6% don’t require a forensic pathology rotation. In those that do, most forensic pathology rotations are 4 weeks long, are done at a medical examiner’s office, and require set prerequisites. A total of 21.1% of responding programs have residents who are not receiving documented evaluations for this rotation. While 39.6% of programs have a defined forensics curriculum, as many as 15% do not. Furthermore, nearly 43% of programs place no limit on counting forensic autopsies when applying for pathology board examinations. Our survey confirmed the inconsistent nature of forensic pathology training in resident education. Additionally, our curriculum was reorganized to create a more robust educational experience. A pre- and post-forensic lecture quiz and Resident In-Service Examination scores were analyzed to determine our curriculum’s impact and effectiveness. Analysis of our pre- and post-lecture quiz showed an improved overall average as well as an increase in Resident In-Service Examination scores, indicating improved general forensic pathology knowledge. Using this knowledge, along with changes in our curriculum, we generated a number of recommendations for improving forensic pathology education in pathology residency. PMID:28913415

  19. Scientific Opinion updating the risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize MON 810

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-12-01

    Full Text Available Following a request from the European Commission, the Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA GMO Panel compiled its previous risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize MON 810, and considered their validity in the light of new relevant scientific publications published from 2009 onwards. Following a search of the scientific literature published between 2009 and October 2012, the EFSA GMO Panel identified 165 peer-reviewed publications containing evidence specific to the risk assessment and/or management of maize MON 810, of which 68 publications were discussed and/or cited in previous EFSA GMO Panel scientific outputs. From the remaining 97 publications, eight were relevant for the molecular characterisation, 27 for food and feed safety assessment, 55 for the environmental risk assessment and/or risk management, two for the molecular characterisation and the environmental risk assessment and/or risk management and five for the food and feed safety assessment and the environmental risk assessment and/or risk management of maize MON 810. None of these publications reported new information that would invalidate the previous conclusions on the safety of maize MON 810 made by the EFSA GMO Panel. Therefore, the EFSA GMO Panel considers that its previous risk assessment conclusions on maize MON 810, as well as its previous recommendations on risk mitigation measures and monitoring, remain valid and applicable.

  20. Cow-calf reproductive, genetic, and nutritional management to improve the sustainability of whole beef production systems.

    Science.gov (United States)

    White, R R; Brady, M; Capper, J L; McNamara, J P; Johnson, K A

    2015-06-01

    Optimizing efficiency in the cow-calf sector is an important step toward improving beef sustainability. The objective of the study was to use a model to identify the relative roles of reproductive, genetic, and nutritional management in minimizing beef production systems' environmental impact in an economically viable, socially acceptable manner. An economic and environmental diet optimizer was used to identify ideal nutritional management of beef production systems varying in genetic and reproductive technology use. Eight management scenarios were compared to a least cost baseline: average U.S. production practices (CON), CON with variable nutritional management (NUT), twinning cattle (TWN), early weaning (EW), sire selection by EPD using either on-farm bulls (EPD-B) or AI (EPD-AI), decreasing the calving window (CW), or selecting bulls by EPD and reducing the calving window (EPD-CW). Diets to minimize land use, water use, and/or greenhouse gas (GHG) emissions were optimized under each scenario. Increases in diet cost attributable to reducing environmental impact were constrained to less than stakeholder willingness to pay for improved efficiency and reduced environmental impact. Baseline land use, water use, and GHG emissions were 188 m, 712 L, and 21.9 kg/kg HCW beef. The NUT scenario, which assessed opportunities to improve sustainability by altering nutritional management alone, resulted in a simultaneous 1.5% reduction in land use, water use, and GHG emissions. The CW scenario improved calf uniformity and simultaneously decreased land use, water use, and GHG emissions by 3.2%. Twinning resulted in a 9.2% reduction in the 3 environmental impact metrics. The EW scenario allowed for an 8.5% reduction in the 3 metrics. The EPD-AI scenario resulted in an 11.1% reduction, which was comparable to the 11.3% reduction achieved by EPD-B in the 3 metrics. Improving genetic selection by using AI or by purchasing on-farm bulls based on their superior EPD demonstrated

  1. Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management.

    Science.gov (United States)

    Ysunza, Antonio; Carmen Pamplona, Maria; Santiago Morales, M A

    2011-10-01

    Velocardiofacial syndrome (VCFS) is the most common genetic syndrome associated with cleft palate. There are reports describing several anomalies associated with the palatal cleft in patients with VCFS, which can affect the characteristics of the velopharyngeal insufficiency (VPI) in these cases. The purpose of this study is to assess velopharyngeal sphincter function during speech, using videonasopharyngoscopy (VNP) and videofluoroscopy (VF), in patients with VCFS, as compared with patients with non-syndromic palatal clefts (NSCP). Twenty patients with VCFS corroborated by a FISH test were studied. All patients showed a palatal cleft. All patients had received previous management including speech therapy and palatal repair. These patients underwent a thorough clinical speech evaluation, including VNP and VF. Twenty patients with NSCP matched by sex, type of cleft and within the age range of the patients with VCFS were studied as controls. From the patients with VCFS, seventeen patients showed a submucous cleft palate. Three patients showed sub-total cleft of the secondary palate. Fourteen patients (70%) showed a coronal velopharyngeal closure pattern. Six patients (30%) showed a circular pattern. In contrast, 10 patients (50%) from the NSCP group showed a circular pattern, two of them showed a Passavant's ridge. Seven patients (35%) showed a coronal pattern and 3 patients (15%) showed a saggital pattern. Mean velum (V) and lateral pharyngeal wall (LPW) motion were significantly decreased in patients with VCFS (V=46% vs 71%; LPW=14% vs 30%; Pspeech was significantly increased in patients with VCFS (34.57% vs 67.37%; Pspeech is significantly different in patients with VCFS as compared with patients with NSCP. Several anomalies associated with the palatal cleft in patients with VCFS can explain these differences. Thus, the surgical approach for repairing a palatal cleft should consider these differences. Moreover, surgical planning should be performed according to

  2. Seed-mediated gene flow promotes genetic diversity of weedy rice within populations: implications for weed management.

    Science.gov (United States)

    He, Zhuoxian; Jiang, Xiaoqi; Ratnasekera, Disna; Grassi, Fabrizio; Perera, Udugahapattuwage; Lu, Bao-Rong

    2014-01-01

    Increased infestation of weedy rice-a noxious agricultural pest has caused significant reduction of grain yield of cultivated rice (Oryza sativa) worldwide. Knowledge on genetic diversity and structure of weedy rice populations will facilitate the design of effective methods to control this weed by tracing its origins and dispersal patterns in a given region. To generate such knowledge, we studied genetic diversity and structure of 21 weedy rice populations from Sri Lanka based on 23 selected microsatellite (SSR) loci. Results indicated an exceptionally high level of within-population genetic diversity (He = 0.62) and limited among-population differentiation (Fst = 0.17) for this predominantly self-pollinating weed. UPGMA analysis showed a loose genetic affinity of the weedy rice populations in relation to their geographical locations, and no obvious genetic structure among populations across the country. This phenomenon was associated with the considerable amount of gene flow between populations. Limited admixture from STRUCTURE analyses suggested a very low level of hybridization (pollen-mediated gene flow) between populations. The abundant within-population genetic diversity coupled with limited population genetic structure and differentiation is likely caused by the considerable seed-mediated gene flow of weedy rice along with the long-distance exchange of farmer-saved rice seeds between weedy-rice contaminated regions in Sri Lanka. In addition to other effective weed management strategies, promoting the application of certified rice seeds with no weedy rice contamination should be the immediate action to significantly reduce the proliferation and infestation of this weed in rice ecosystems in countries with similar rice farming styles as in Sri Lanka.

  3. IMAGING OF HIP JOINT PATHOLOGIES

    Directory of Open Access Journals (Sweden)

    Parul Dutta

    2016-08-01

    Full Text Available The hip joint is a large and complex articulation and can be involved by numerous pathologic conditions like congenital and developmental, infective, arthritic, and neoplastic. Early diagnosis and characterisation of pathology has vital role in proper management and follow up of the disease for the clinicians. Present study was conducted in 45 patients who underwent clinical, radiological, and pathological examination in GMCH. Maximum no of patient between age group of 10-30 yrs. male-female ratio was 1.8:1 and 30% cases are unilateral. FSE STAIR images were most useful in delineating pathologies. Gadolinium-enhanced scan were used to evaluate the extent of the disease and the pattern of involvement. AVN was the most common pathology detected comprising 29%. The next common abnormality detected was infective arthritis found in 26% of cases. In case of Legg-Calve-Perthes disease, there was abnormal linear increase in the signal intensity at junction of the epiphyseal cartilage. Ultrasonography is useful for the screening of paediatric hip cases and also for guided aspiration for histopathology. CT scan shows better resolution of soft tissue then the radiograph. The importance of early diagnosis can be gauzed from the fact that early initiation of treatment creates the difference between a responsible, worthwhile life, and a cripple handicapped life. The role of imaging can never be undermined considering the fact that early suspicion and detection is within the realms of imaging.

  4. Frontotemporal Dementia: clinical, genetic, and pathological heterogeneity

    OpenAIRE

    Seelaar, Harro

    2011-01-01

    textabstractThe current clinical syndrome frontotemporal dementia (FTD) was first described in 1892 by the Czech psychiatrist Arnold Pick. He described a patient with aphasia and behavioural changes with on macroscopic examination marked left frontotemporal atrophy. In 1911, Alois Alzheimer described the detailed microscopic changes, including argyrophilic neuronal inclusions, which are still known as Pick bodies. The term Pick’s disease was introduced in 1926 and was used till the early 90’s...

  5. Frontotemporal Dementia: clinical, genetic, and pathological heterogeneity

    NARCIS (Netherlands)

    H. Seelaar (Harro)

    2011-01-01

    textabstractThe current clinical syndrome frontotemporal dementia (FTD) was first described in 1892 by the Czech psychiatrist Arnold Pick. He described a patient with aphasia and behavioural changes with on macroscopic examination marked left frontotemporal atrophy. In 1911, Alois Alzheimer describe

  6. Frontotemporal Dementia: clinical, genetic, and pathological heterogeneity

    NARCIS (Netherlands)

    H. Seelaar (Harro)

    2011-01-01

    textabstractThe current clinical syndrome frontotemporal dementia (FTD) was first described in 1892 by the Czech psychiatrist Arnold Pick. He described a patient with aphasia and behavioural changes with on macroscopic examination marked left frontotemporal atrophy. In 1911, Alois Alzheimer

  7. Pathology and Genetics of Syndromic Gastric Polyps

    NARCIS (Netherlands)

    Brosens, Lodewijk A A; Wood, Laura D; Offerhaus, G Johan; Arnold, Christina A; Lam-Himlin, Dora; Giardiello, Francis M; Montgomery, Elizabeth A

    2016-01-01

    Gastric polyps are found in 1% to 4% of patients undergoing gastroscopy. The vast majority are sporadic, but some gastric polyps indicate an underlying syndrome. Gastric polyps can manifest in each of the gastrointestinal polyposis syndromes, including the recently described gastric adenocarcinoma a

  8. Implications for management and conservation of the population genetic structure of the wedge clam Donax trunculus across two biogeographic boundaries

    Science.gov (United States)

    Marie, Amandine D.; Lejeusne, Christophe; Karapatsiou, Evgenia; Cuesta, José A.; Drake, Pilar; MacPherson, Enrique; Bernatchez, Louis; Rico, Ciro

    2016-12-01

    In a resource management perspective, the understanding of the relative influence of the physical factors on species connectivity remains a major challenge and is also of great ecological and conservation biology interest. Despite the overfishing threat on the wedge clam Donax trunculus in Europe, relatively little information is known about its population genetic structure and connectivity and their consequences on conservation policies. We employed 16 microsatellite loci to characterise the genetic diversity and population structure of D. trunculus. A total of 514 samples from seven different localities along the Atlantic-Mediterranean transition, from the Atlantic (Gulf of Cádiz) to the north-western Mediterranean were genotyped. The analysis of the population genetic structure displayed a clear distinction along the Atlantic-Mediterranean transition with different clusters in the Atlantic Ocean, the Alboran Sea and the northwestern Mediterranean. Consequently, we recommend that these three areas should be considered as different management units. We showed that all populations seem to be at high long-term risk of extinction with the exception of the protected Doñana National Park population which still seems to have evolutionary potential. Therefore, our results emphasized the necessity of protection of this economic resource and the validity of molecular tools to evaluate the population dynamics.

  9. 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.

  10. 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.

  11. Non-genetic risk factors and their influence on the management of patients in the clinic.

    Science.gov (United States)

    Álvarez, Teresa; Soto, Immaculada; Astermark, Jan

    2015-02-01

    The development of inhibitors is the most serious iatrogenic complication affecting patients with haemophilia. This complication is associated with impaired vital or functional prognosis, reduced quality of life and increased cost of treatment. The reasons why some patients develop antibodies to factor replacement and others do not remain unclear. It is however clear that inhibitor development results from a complex multifactorial interaction between genetic and non-genetic risk factors. Environmental influences implicated in increasing the risk of inhibitor formation can be viewed as modifiable risk factors. Therefore, identification of the non-genetic risk factors may offer the possibility of personalising haemophilia therapy by modifying treatment strategies in high-risk patients in the critical early phase of factor VIII exposure. In this article, we review the non-genetic factors reported as well as the potential impact of danger signals and the different scores for inhibitor development risk stratification.

  12. Management of bison in the National Wildlife Refuge System : Genetic conservation

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report on bison and their management at National Wildlife Refuges and National Parks. It includes background information on bison management, current status of...

  13. Contrasting Genetic Structure and Diversity of Galaxias maculatus (Jenyns, 1848) Along the Chilean Coast: Stock Identification for Fishery Management.

    Science.gov (United States)

    González-Wevar, Claudio; Salinas, Pilar; Hüne, Mathias; Segovia, Nicolás; Vargas-Chacoff, Luis; Oda, Esteban; Poulin, Elie

    2015-01-01

    Galaxias maculatus (Pisces: Galaxiidae) commonly known as "puye" has a disjunct distribution along the Southern Hemisphere including landlocked and migratory populations at latitudes over 30°S in South America, Australia, Tasmania, and New Zealand. Chilean artisanal fishery of G. maculatus has become less important as a resource due to multiple factors including overexploitation, pollution, introduction of predators, and competitors. At the same time, the current conservation status of the species in Chile is still uncertain. Here, we used mtDNA control region sequences (925bp) to investigate main patterns of genetic diversity and structure in populations from 2 biogeographic areas along the Chilean coast. Extremely high levels of genetic diversity characterize the species, suggesting a low amount of influence of the last glacial cycle over its demography compared with other studies in freshwater and marine South American fishes. However, we recognized contrasting genetic patterns between the Intermediate Area (between 30°S and 42°S) and the Magellanic Province (between 42°S and 56°S). On the one hand, over a narrow geographical range (stock units for G. maculatus and this information should be integrated in future management strategies and aquaculture programs for this species. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  14. Genetic diversity and structure of natural and managed populations of Cedrus atlantica (Pinaceae) assessed using random amplified polymorphic DNA.

    Science.gov (United States)

    Renau-Morata, Begoña; Nebauer, Sergio G; Sales, Ester; Allainguillaume, Joel; Caligari, Peter; Segura, Juan

    2005-05-01

    Cedrus atlantica (Pinaceae) is a large and exceptionally long-lived conifer native to the Rif and Atlas Mountains of North Africa. To assess levels and patterns of genetic diversity of this species, samples were obtained throughout the natural range in Morocco and from a forest plantation in Arbúcies, Girona (Spain) and analyzed using RAPD markers. Within-population genetic diversity was high and comparable to that revealed by isozymes. Managed populations harbored levels of genetic variation similar to those found in their natural counterparts. Genotypic analyses of molecular variance (AMOVA) found that most variation was within populations, but significant differentiation was also found between populations, particularly in Morocco. Bayesian estimates of F(ST) corroborated the AMOVA partitioning and provided evidence for population differentiation in C. atlantica. Both distance- and Bayesian-based clustering methods revealed that Moroccan populations comprise two genetically distinct groups. Within each group, estimates of population differentiation were close to those previously reported in other gymnosperms. These results are interpreted in the context of the postglacial history of the species and human impact. The high degree of among-group differentiation recorded here highlights the need for additional conservation measures for some Moroccan populations of C. atlantica.

  15. 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

    X-linked lymphoproliferative disease type 2 (XLP-2, OMIM 300635) is a primary immunodeficiency caused by the loss of X chromosome-linked inhibitor of apoptosis (XIAP), the X-linked inhibitor of apoptosis gene at Xq25. XLP-2 individuals are susceptible to several specific and potentially fatal inf......, and expedite specific targeted therapy.Genet Med advance online publication 14 July 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.82....

  16. 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.

  17. 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....

  18. Genetic inhibition of phosphorylation of the translation initiation factor eIF2α does not block Aβ-dependent elevation of BACE1 and APP levels or reduce amyloid pathology in a mouse model of Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Katherine R Sadleir

    Full Text Available β-site amyloid precursor protein (APP cleaving enzyme 1 (BACE1 initiates the production of β-amyloid (Aβ, the major constituent of amyloid plaques in Alzheimer's disease (AD. BACE1 is elevated ∼2-3 fold in AD brain and is concentrated in dystrophic neurites near plaques, suggesting BACE1 elevation is Aβ-dependent. Previously, we showed that phosphorylation of the translation initiation factor eIF2α de-represses translation of BACE1 mRNA following stress such as energy deprivation. We hypothesized that stress induced by Aβ might increase BACE1 levels by the same translational mechanism involving eIF2α phosphorylation. To test this hypothesis, we used three different genetic strategies to determine the effects of reducing eIF2α phosphorylation on Aβ-dependent BACE1 elevation in vitro and in vivo: 1 a two-vector adeno-associated virus (AAV system to express constitutively active GADD34, the regulatory subunit of PP1c eIF2α phosphatase; 2 a non-phosphorylatable eIF2α S51A knockin mutation; 3 a BACE1-YFP transgene lacking the BACE1 mRNA 5' untranslated region (UTR required for eIF2α translational regulation. The first two strategies were used in primary neurons and 5XFAD transgenic mice, while the third strategy was employed only in 5XFAD mice. Despite very effective reduction of eIF2α phosphorylation in both primary neurons and 5XFAD brains, or elimination of eIF2α-mediated regulation of BACE1-YFP mRNA translation in 5XFAD brains, Aβ-dependent BACE1 elevation was not decreased. Additionally, robust inhibition of eIF2α phosphorylation did not block Aβ-dependent APP elevation in primary neurons, nor did it reduce amyloid pathology in 5XFAD mice. We conclude that amyloid-associated BACE1 elevation is not caused by translational de-repression via eIF2α phosphorylation, but instead appears to involve a post-translational mechanism. These definitive genetic results exclude a role for eIF2α phosphorylation in Aβ-dependent BACE1 and

  19. Genetic inhibition of phosphorylation of the translation initiation factor eIF2α does not block Aβ-dependent elevation of BACE1 and APP levels or reduce amyloid pathology in a mouse model of Alzheimer's disease.

    Science.gov (United States)

    Sadleir, Katherine R; Eimer, William A; Kaufman, Randal J; Osten, Pavel; Vassar, Robert

    2014-01-01

    β-site amyloid precursor protein (APP) cleaving enzyme 1 (BACE1) initiates the production of β-amyloid (Aβ), the major constituent of amyloid plaques in Alzheimer's disease (AD). BACE1 is elevated ∼2-3 fold in AD brain and is concentrated in dystrophic neurites near plaques, suggesting BACE1 elevation is Aβ-dependent. Previously, we showed that phosphorylation of the translation initiation factor eIF2α de-represses translation of BACE1 mRNA following stress such as energy deprivation. We hypothesized that stress induced by Aβ might increase BACE1 levels by the same translational mechanism involving eIF2α phosphorylation. To test this hypothesis, we used three different genetic strategies to determine the effects of reducing eIF2α phosphorylation on Aβ-dependent BACE1 elevation in vitro and in vivo: 1) a two-vector adeno-associated virus (AAV) system to express constitutively active GADD34, the regulatory subunit of PP1c eIF2α phosphatase; 2) a non-phosphorylatable eIF2α S51A knockin mutation; 3) a BACE1-YFP transgene lacking the BACE1 mRNA 5' untranslated region (UTR) required for eIF2α translational regulation. The first two strategies were used in primary neurons and 5XFAD transgenic mice, while the third strategy was employed only in 5XFAD mice. Despite very effective reduction of eIF2α phosphorylation in both primary neurons and 5XFAD brains, or elimination of eIF2α-mediated regulation of BACE1-YFP mRNA translation in 5XFAD brains, Aβ-dependent BACE1 elevation was not decreased. Additionally, robust inhibition of eIF2α phosphorylation did not block Aβ-dependent APP elevation in primary neurons, nor did it reduce amyloid pathology in 5XFAD mice. We conclude that amyloid-associated BACE1 elevation is not caused by translational de-repression via eIF2α phosphorylation, but instead appears to involve a post-translational mechanism. These definitive genetic results exclude a role for eIF2α phosphorylation in Aβ-dependent BACE1 and APP elevation

  20. Ultrasound-Guided Needle Biopsy of Neck Lymph Nodes in Patients With Suspected Lung Cancer: Are the Specimens Sufficient for Complete Pathologic Evaluation to Guide Patient Management?

    Science.gov (United States)

    Duguay, Sean; Wagner, Jason M; Zheng, Wei; Ling, Johnny; Zhao, Lichao C; Allen, Karen S; North, Justin C; Deb, Subrato J

    2017-06-01

    The purpose of this study is to determine the ability of ultrasound guided needle biopsy of a neck lymph node to provide adequate tissue for complete pathologic evaluation of suspected metastatic lung cancer, including molecular testing for epidermal growth factor receptor gene mutations by pyrosequencing and anaplastic lymphoma kinase gene rearrangement by fluorescence in situ hybridization. Institutional review board approval was obtained and the requirement for informed consent was waived. All ultrasound guided neck biopsies performed July 1, 2011, to June 30, 2015, were retrospectively reviewed, and all biopsies performed for suspected lung cancer metastatic to supraclavicular and cervical lymph nodes were included. Forty patients with suspected lung cancer underwent ultrasound-guided needle biopsy of an abnormal appearing neck lymph node identified on preprocedure computed tomography or positron emission tomography/computed tomography. Thirty-seven patients were subsequently diagnosed with lung cancer and 3 were diagnosed with lymphoma. A definitive pathologic diagnosis was rendered in 95% of neck node biopsies (38/40; 95% confidence interval, 84%-99%). Of the 36 specimens diagnostic for lung cancer, 16 were considered for further molecular testing and the specimen was adequate for molecular testing in 15 (94%; 73%-100%) cases. Therefore, the neck node biopsy specimens were adequate for complete pathologic workup in 93% (37/40; 81%-98%). No complications related to the biopsies were observed. In patients presenting with suspected lung cancer and suspicious neck lymph nodes, ultrasound-guided needle biopsy frequently provides adequate tissue for complete pathologic evaluation and eliminates the need for more invasive procedures.

  1. Preservation of the wild European mouflon: the first example of genetic management using a complete program of reproductive biotechnologies.

    Science.gov (United States)

    Ptak, Grazyna; Clinton, Michael; Barboni, Barbara; Muzzeddu, Marco; Cappai, Pietro; Tischner, Marian; Loi, Pasqualino

    2002-03-01

    Although the potential use of reproductive biotechnologies for safeguarding endangered wildlife species is undoubted, practical efforts have met with limited success to date. In those instances in which modern technologies have been adapted to rescuing rare or endangered species, procedures have been applied piecemeal, and no consistent breeding program based on reproductive biotechnologies has been undertaken. Here we describe for the first time the rescue of an endangered species, the European mouflon (Ovis orientalis musimon), by the application of an integrated package of reproductive biotechnologies. This genetic management extended from the initial collection of gametes, through the in vitro production of embryos and interspecific transfer, to the birth of healthy mouflon offspring. In addition, a genetic resource bank for the European mouflon was established, with cryopreserved sperm, embryos, and somatic cells.

  2. Within-population genetic structure in beech (Fagus sylvatica L. stands characterized by different disturbance histories: does forest management simplify population substructure?

    Directory of Open Access Journals (Sweden)

    Andrea Piotti

    Full Text Available The fine-scale assessment of both spatially and non-spatially distributed genetic variation is crucial to preserve forest genetic resources through appropriate forest management. Cryptic within-population genetic structure may be more common than previously thought in forest tree populations, which has strong implications for the potential of forests to adapt to environmental change. The present study was aimed at comparing within-population genetic structure in European beech (Fagus sylvatica L. plots experiencing different disturbance levels. Five plot pairs made up by disturbed and undisturbed plots having the same biogeographic history were sampled throughout Europe. Overall, 1298 individuals were analyzed using four highly polymorphic nuclear microsatellite markers (SSRs. Bayesian clustering within plots identified 3 to 11 genetic clusters (within-plot θ ST ranged from 0.025 to 0.124. The proportion of within-population genetic variation due to genetic substructuring (F CluPlot = 0.067 was higher than the differentiation among the 10 plots (F PlotTot = 0.045. Focusing on the comparison between managed and unmanaged plots, disturbance mostly explains differences in the complexity of within-population genetic structure, determining a reduction of the number of genetic clusters present in a standardized area. Our results show that: i genetic substructuring needs to be investigated when studying the within-population genetic structure in forest tree populations, and ii indices describing subtle characteristics of the within-population genetic structure are good candidates for providing early signals of the consequences of forest management, and of disturbance events in general.

  3. Within-population genetic structure in beech (Fagus sylvatica L.) stands characterized by different disturbance histories: does forest management simplify population substructure?

    Science.gov (United States)

    Piotti, Andrea; Leonardi, Stefano; Heuertz, Myriam; Buiteveld, Joukje; Geburek, Thomas; Gerber, Sophie; Kramer, Koen; Vettori, Cristina; Vendramin, Giovanni Giuseppe

    2013-01-01

    The fine-scale assessment of both spatially and non-spatially distributed genetic variation is crucial to preserve forest genetic resources through appropriate forest management. Cryptic within-population genetic structure may be more common than previously thought in forest tree populations, which has strong implications for the potential of forests to adapt to environmental change. The present study was aimed at comparing within-population genetic structure in European beech (Fagus sylvatica L.) plots experiencing different disturbance levels. Five plot pairs made up by disturbed and undisturbed plots having the same biogeographic history were sampled throughout Europe. Overall, 1298 individuals were analyzed using four highly polymorphic nuclear microsatellite markers (SSRs). Bayesian clustering within plots identified 3 to 11 genetic clusters (within-plot θ ST ranged from 0.025 to 0.124). The proportion of within-population genetic variation due to genetic substructuring (F CluPlot = 0.067) was higher than the differentiation among the 10 plots (F PlotTot = 0.045). Focusing on the comparison between managed and unmanaged plots, disturbance mostly explains differences in the complexity of within-population genetic structure, determining a reduction of the number of genetic clusters present in a standardized area. Our results show that: i) genetic substructuring needs to be investigated when studying the within-population genetic structure in forest tree populations, and ii) indices describing subtle characteristics of the within-population genetic structure are good candidates for providing early signals of the consequences of forest management, and of disturbance events in general.

  4. Scientific Opinion updating the risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize 1507

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-10-01

    Full Text Available

    Following a request from the European Commission, the Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA GMO Panel compiled its previous risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize 1507, and considered their validity in the light of new relevant scientific publications published from 2005 onwards. The EFSA GMO Panel performed a search of the scientific literature published between 2005 and September 2012, and identified 61 peer-reviewed publications containing evidence specific to the risk assessment and/or management of maize 1507, of which two were relevant for the food and feed safety assessment, and 34 for the environmental risk assessment and/or risk management. None of these publications reported new information that would invalidate the previous conclusions on the safety of maize 1507 made by the EFSA GMO Panel. Therefore, the EFSA GMO Panel considers that its previous risk assessment conclusions on maize 1507, as well as its previous recommendations on risk mitigation measures and monitoring, remain valid and applicable.

  5. Scientific Opinion updating the risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize Bt11

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-12-01

    Full Text Available Following a request from the European Commission, the Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA GMO Panel compiled its previous risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize Bt11, and considered their validity in the light of new relevant scientific publications published from 2005 onwards. Following a search of the scientific literature published between 2005 and October 2012, the EFSA GMO Panel identified 287 peer-reviewed publications containing evidence specific to the risk assessment and/or management of maize Bt11, of which 270 publications were previously discussed and cited in relevant GM maize-related applications and/or the numerous EFSA GMO Panel scientific outputs. From the remaining 17 publications, three were relevant for the food and feed safety assessment, and 14 for the environmental risk assessment and/or risk management of maize Bt11. None of these publications reported new information that would invalidate the previous conclusions on the safety of maize Bt11 made by the EFSA GMO Panel. Therefore, the EFSA GMO Panel considers that its previous risk assessment conclusions on maize Bt11, as well as its previous recommendations on risk mitigation measures and monitoring, remain valid and applicable.

  6. Genetics of Parkinson's disease and parkinsonism.

    Science.gov (United States)

    Douglas, Michael R; Lewthwaite, Alistair J; Nicholl, David J

    2007-06-01

    The past 10 years has seen a shift in our etiological concepts of Parkinson's disease, moving from a nearly exclusively environmentally mediated disease towards a complex disorder with important genetic contributors. The identification of responsible mutations in certain genes, particularly alpha-synuclein, Parkin, PINK1, DJ-1 and LRRK2, has increased our understanding of the clinical and pathological changes underlying Parkinson's disease, with implications for patient diagnosis, management and future research. This review will outline the specific genetic advances, discuss their implications for clinical practice and hint at future directions for research into this common and disabling disease.

  7. 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

  8. Pheochromocytoma/Paraganglioma: Review of perioperative management of blood pressure and update on genetic mutations associated with pheochromocytoma.

    Science.gov (United States)

    Fishbein, Lauren; Orlowski, Robert; Cohen, Debbie

    2013-06-01

    Pheochromocytomas and paragangliomas are rare tumors with high morbidity rates caused by excessive catecholamine secretion, even though the majority of tumors are benign. The use of perioperative blockade regimens, together with improved surgical techniques, has greatly impacted the perioperative morbidity associated with these tumors. The old dogma of the "tumor of tens" no longer holds true. For example, at least one third of all pheochromocytomas and paragangliomas are hereditary, with mutations in 1 of 10 well-characterized susceptibility genes, and one quarter of all tumors are malignant. This review focuses on the perioperative management of pheochromocytoma and paragangliomas and the clinical implications of the associated genetic mutations.

  9. Pheochromocytoma/Paraganglioma: Review of perioperative management of blood pressure and update on genetic mutations associated with pheochromocytoma

    Science.gov (United States)

    Fishbein, Lauren; Orlowski, Robert; Cohen, Debbie

    2015-01-01

    Pheochromocytomas and paragangliomas are rare tumors with high morbidity, due to excessive catecholamine secretion, even though the majority of tumors are benign. The use of perioperative blockade regimens, together with improved surgical techniques, has greatly impacted the perioperative morbidity associated with these tumors. The old dogma of the “tumor of tens” no longer holds true. For example, at least one-third of all pheochromocytomas and paragangliomas are hereditary with mutations in one of ten well characterized susceptibility genes, and one-quarter of all tumors are malignant. This review will focus on the perioperative management of pheochromocytoma and paragangliomas and the clinical implications of the associated genetic mutations. PMID:23730992

  10. 肾穿刺活检病理信息管理系统的研究与应用%Research and application of the information management system of renal biopsy for pathologic diagnosis

    Institute of Scientific and Technical Information of China (English)

    李刚; 孙玉静; 尹小青; 王占明; 肖逸平; 黄志中

    2012-01-01

    在分析肾活检病理诊断医疗用语的基础上,以PowerBuilder 9.0、Visual C++6.0为客户端、以MicroSoft SQL Server 为服务器,介绍了该系统的设计思路及关键技术,初步实现了数据的结构化表达、录入及提高病理图像网络传输效率的方法.临床应用显示,该系统能有效提高临床医师收集、处理肾活检病理信息的效率,并在肾活检科学研究和培训中具有较好应用和推广价值.%A web-based management information system of renal biopsy for pathologic diagnosis was designed based on the analysis of medical terms of renal biopsy for pathologic diagnosis. The client of system was designed by PowerBuilder 9.0 and Visual C + +6.0. The server was set up by using MicroSoft SQL Server. The primary structured data expression and input were implemented. A method for improving the efficiency of network transmission of pathologic images was put forward. Clinical application results show that the system can improve doelors'efficiency of collecting and processing renal biopsy information for pathologic diagnosis, and achieve satisfactory results in research and training of renal biopsy.

  11. 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.

  12. 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.

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

    Science.gov (United States)

    2008-08-01

    Journal of Parasitology 86 (6), pp. 1355–1359. Nickoloff, J. A. (1995) In: J.A. Nickoloff, Ed, Electroporation Protocols for Microorganisms, Methods in...Agricultural Center, Veterinary Science, 404 Life Sciences Building, Baton Rouge, LA Paratransgenesis is the genetic manipulation of a host’s symbiotic

  14. 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

  15. Role of genetic testing in the management of patients with inherited porphyria and their families.

    Science.gov (United States)

    Whatley, S D; Badminton, M N

    2013-05-01

    The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. The role of genetic testing in the autosomal dominant acute porphyrias (acute intermittent porphyria, hereditary coproporphyria and variegate porphyria) is to identify presymptomatic carriers of the family specific pathogenic mutation so that they can be counselled on how to minimize their risk of suffering an acute attack. At present the additional genetic factors that influence penetrance are not known, and all patients are treated as equally at risk. Genetic testing in the erythropoietic porphyrias (erythropoietic protoporphyria, congenital erythropoietic porphyria and X-linked dominant protoporphyria) is focused on predictive and preconceptual counselling, prenatal testing and genotype-phenotype correlation. Recent advances in analytical technology have resulted in increased sensitivity of mutation detection with success rates of greater than 90% for most of the genes. The ethical and consent issues are discussed. Current research into genetic factors that affect penetrance is likely to lead to a more refined approach to counselling for presymptomatic gene carriers.

  16. 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

    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...

  17. 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...

  18. 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 individuali

  19. CT in vascular pathologies

    Energy Technology Data Exchange (ETDEWEB)

    Bartolozzi, C.; Neri, E.; Caramella, D. [Diagnostic and Interventional Radiology Department of Oncology, University of Pisa, Via Roma 67, I-56100 Pisa (Italy)

    1998-06-02

    Since the introduction of helical scanners, CT angiography (CTA) has achieved an essential role in many vascular applications that were previously managed with conventional angiography. The performance of CTA is based on the accurate selection of collimation width, pitch, reconstruction spacing and scan delay, which must be modulated on the basis of the clinical issue. However, the major improvement of CT has been provided by the recent implementation of many post-processing techniques, such as multiplanar reformatting, shaded surface display, maximum intensity projections, 3D perspectives of surface and volume rendering, which simulate virtual intravascular endoscopy. The integration of the potentialities of the scanner and of the image processing techniques permitted improvement of: (a) the evaluation of aneurysms, dissection and vascular anomalies involving the thoracic aorta; (b) carotid artery stenosis; (c) aneurysms of abdominal aorta; (d) renal artery stenosis; (e) follow-up of renal artery stenting; and (f) acute or chronic pulmonary embolism. Our experience has shown that the assessment of arterial pathologies with CTA requires the integration of 3D post-processing techniques in most applications. (orig.) With 4 figs., 34 refs.

  20. A simulation-based inventory management with genetic algorithm for uncertain demand for third-party logistics provider

    Directory of Open Access Journals (Sweden)

    Wuthichai Wongthatsanekorn

    2014-09-01

    Full Text Available This research aims to study and apply inventory management system for Third party logistics provider. Currently, the company uses economic order quantity to control inventory. The analysis of historical demand data shows that the demand is not deterministic. Hence, assumptions of using economic order quantity are violated. In this research, the simulation-based technique is applied to solve for optimal order quantity and reorder point. Since there are numerous items in the considered warehouse, ABC analysis is utilized to select important items to analyze. Then simulation and genetic algorithm are applied to find the optimal solution. Design of experiment with full factorial design is used to determine the best parameter setting of genetic algorithm. The performance measures are the average total inventory cost which composes of average ordering cost, average inventory holding cost and average lost sale cost. The results show that the average total cost for product code G2654, G2581, G0706, G2791 can be reduced by 73.43%, 49.86%, 28.50% and 13.38% respectively. For product code G2654, the average lost sale cost can be reduced by 85.30%. In summary, the solution from simulation and genetic algorithm provides better results than the one from economic order quantity method.

  1. Handheld computing in pathology

    Directory of Open Access Journals (Sweden)

    Seung Park

    2012-01-01

    Full Text Available Handheld computing has had many applications in medicine, but relatively few in pathology. Most reported uses of handhelds in pathology have been limited to experimental endeavors in telemedicine or education. With recent advances in handheld hardware and software, along with concurrent advances in whole-slide imaging (WSI, new opportunities and challenges have presented themselves. This review addresses the current state of handheld hardware and software, provides a history of handheld devices in medicine focusing on pathology, and presents future use cases for such handhelds in pathology.

  2. Handheld computing in pathology

    Science.gov (United States)

    Park, Seung; Parwani, Anil; Satyanarayanan, Mahadev; Pantanowitz, Liron

    2012-01-01

    Handheld computing has had many applications in medicine, but relatively few in pathology. Most reported uses of handhelds in pathology have been limited to experimental endeavors in telemedicine or education. With recent advances in handheld hardware and software, along with concurrent advances in whole-slide imaging (WSI), new opportunities and challenges have presented themselves. This review addresses the current state of handheld hardware and software, provides a history of handheld devices in medicine focusing on pathology, and presents future use cases for such handhelds in pathology. PMID:22616027

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. Delivering a pathology curriculum in an integrated medical course.

    Science.gov (United States)

    Carr, Norman J; Olmos, Martin; Bushnell, John

    2008-10-01

    Modern integrated medical curricula usually do not include a separate pathology course. Consequently, there is a risk that important pathological principles may be omitted. We aimed to ensure that pathology is properly represented by developing a core pathology curriculum created in consultation with local pathologists. Appropriate information technology to track the delivery of this material within the integrated curriculum structure was developed using a learning content management system in which a metadata schema was constructed. This allows a sophisticated view of where and how pathology appears in the course and can also increase the visibility of the subject by demonstrating the central place of pathology in medicine. In conclusion, a core curriculum in pathology that can be tracked by information technology with sufficient power and flexibility is a solution to the potential loss of pathology from integrated medical courses. We believe the result is superior to a stand-alone pathology course.

  8. 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.

  9. CONGESTION MANAGEMENT IN DEREGULATED POWER SYSTEMS USING REAL CODED GENETIC ALGORITHM

    Directory of Open Access Journals (Sweden)

    Sujatha Balaraman

    2010-11-01

    Full Text Available In this paper, an efficient method has been proposed for transmission line over load alleviation in deregulated power system using real coded genetic algorithm (RCGA. For secure operation of power system, the network loading has to be maintained within specified limits. Transmission line congestion initiates the cascading outages which forces the system to collapse. Accurate prediction and alleviation of line overloads is the suitable corrective action to avoid network collapse. In this paper an attempt is made to explore the use of real coded genetic algorithm to find the optimal generation rescheduling for relieving congestion. The effectiveness of the proposed algorithm has been analyzed on IEEE 30 bus test system. The results obtained by the proposed method are found to be quite encouraging when compared with Simulated Annealing (SA and hence it will be useful in electrical restructuring.

  10. 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 structur...

  11. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

    Science.gov (United States)

    Maiorana, Arianna; Barbetti, Fabrizio; Boiani, Arianna; Rufini, Vittoria; Pizzoferro, Milena; Francalanci, Paola; Faletra, Flavio; Nichols, Colin G; Grimaldi, Chiara; de Ville de Goyet, Jean; Rahier, Jacques; Henquin, Jean-Claude; Dionisi-Vici, Carlo

    2014-11-01

    Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the response to a therapeutic diazoxide trial an early, crucial step before proceeding (or not) to specific genetic testing and eventually imaging, aimed at distinguishing diffuse vs focal CHI. However, interpretation of the diazoxide test is not trivial and can vary between research groups, which may lead to inappropriate decisions. Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions. Two CHI patients weaned from parenteral glucose infusion and glucagon after starting diazoxide. No hypoglycaemia was registered during a 72-h continuous glucose monitoring (CGMS), or hypoglycaemic episodes were present for no longer than 3% of 72-h. Normoglycaemia was obtained by low-medium dose diazoxide combined with frequent carbohydrate feeds for several years. We identified monoallelic, paternally inherited mutations in KATP channel genes, and (18) F-DOPA PET-CT revealed a focal lesion that was surgically resected, resulting in complete remission of hypoglycaemia. Although rare, some patients with focal lesions may be responsive to diazoxide. As a consequence, we propose an algorithm that is not based on a 'formal' diazoxide response but on genetic testing, in which patients carrying paternally inherited ABCC8 or KCNJ11 mutations should always be subjected to (18) F-DOPA PET-CT. © 2014 John Wiley & Sons Ltd.

  12. Multiobjective waste management optimization strategy coupling life cycle assessment and genetic algorithms: application to PET bottles

    OpenAIRE

    Komly, Claude-Emma; Azzaro-Pantel, Catherine; Hubert, Antoine; Pibouleau, Luc; Archambault, Valérie

    2012-01-01

    International audience; A mathematical model based on life-cycle assessment (LCA) results is developed to assess the environmental efficiency of the end-of-life management of polyethylene terephthalate (PET) bottles. For this purpose, multiobjective optimization and decision support tools are used to define optimal targets for efficient waste management. The global environmental impacts associated with the treatment of PET bottles from their cradle to their ultimate graves (incineration, land...

  13. Consolidation of the North Shore-LIJ Health System anatomic pathology services: the challenge of subspecialization, operations, quality management, staffing, and education.

    Science.gov (United States)

    Groppi, Diane E; Alexis, Claudine E; Sugrue, Chiara F; Bevis, Cynthia C; Bhuiya, Tawfiqul A; Crawford, James M

    2013-07-01

    To describe our experience, both in meeting challenges and in reporting outcomes, of the consolidation of anatomic pathology services in the North Shore-LIJ Health System in February 2011. We addressed issues of governance, personnel, physical plant, quality programming, connectivity, and education. The highly regulated nature of the laboratory industry and the fact that patient care necessarily never pauses require that such a consolidation take place without a break in service or degradation in turnaround time and quality while engaging personnel at all levels in the extra duties related to consolidation. Subspecialization has allowed us to better meet the needs of our in-system health care community while increasing our access to the competitive outreach marketplace.

  14. 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.

  15. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

    Science.gov (United States)

    Obici, Laura; Kuks, Jan B.; Buades, Juan; Adams, David; Suhr, Ole B.; Coelho, Teresa; Kyriakides, Theodore

    2016-01-01

    Purpose of review These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene. Recent findings The effectiveness of current treatment options is still limited in patients with TTR-FAP beyond stage I. Diagnosis in the early stages of TTR-FAP is essential to prevent or delay the progression of disease. Existing legal and cultural issues differ among countries within Europe. Experts of the European Network for TTR-FAP (ATTReuNET) concluded that genetic counselling for diagnosed individuals and at-risk family members is mostly beneficial and should be carried out with care by trained professionals. Systematic and regular monitoring of an asymptomatic carrier is necessary to detect early signs of TTR-FAP and maximize the effectiveness of treatment. This includes five areas of assessment: history/clinical examination, sensorimotor function, autonomic dysfunction, cardiac function, and renal function. At least two related symptoms and positive biopsy findings are required to confirm diagnosis of TTR-FAP. Summary Early detection of TTR-FAP is essential to improve the prognosis of TTR-FAP. ATTReuNET recommends genetic counselling and routine monitoring for asymptomatic carriers of TTR-FAP. PMID:26734953

  16. Hip joint pathology

    DEFF Research Database (Denmark)

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

    2016-01-01

    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 (18-6...

  17. 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

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

    Science.gov (United States)

    Plumer, Liivi; Keis, Marju; Remm, Jaanus; Hindrikson, Maris; Jõgisalu, Inga; Männil, Peep; Kübarsepp, Marko; Saarma, Urmas

    2016-01-01

    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 with local

  19. [The new algorithm for disease management of patients with epilepsy based on genetic research].

    Science.gov (United States)

    Oros, M M; Smolanka, V I

    2012-01-01

    We have developed and proposed a new algorithm for treating patients with epilepsy, which takes into account the genetic criteria for the effectiveness of AEDs and provides an opportunity to significantly reduce the time drug-resistance definition, which in turn reduces the time progression epileptohenesis. Therefore, the use of alternative treatments for epilepsy, it is possible before the occurrence of irreversible changes in the patient's central nervous system. Therefore, treatment for this algorithm accelerates the choice of adequate treatment tactics in a particular patient, which promotes safety in society as active and healthy citizens.

  20. 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

    control person from 15 areas in 11 European countries through a coordinated and standardised effort. A biological sample, preferably a blood sample, was collected from each participant, and basic physical and cognitive measures were obtained together with information about health, life style, and family...... control were formed and are available for genetic analyses (e.g. linkage studies and genome-wide association studies). Mortality follow-up improves the possibility of identifying families with the most extreme longevity phenotypes. With a mean follow-up time of 3.7years the number of families with all...

  1. [Pathology- a new revival].

    Science.gov (United States)

    Barshack, Iris

    2013-06-01

    The field of pathology has undergone considerable change in recent years. The editor and editorial board of this journal are to be commended for their decision to devote a special issue to the field of pathology. Pathology deals with the characterization, investigation, and diagnosis of disease and disease processes and as such, has Long been considered one of the foundations of medicine. It is a rich and multi-faceted field which has retained its breadth of scope in the face of ever-increasing specialization and sub-specialization in medicine. In addition to its classic roles in autopsy, case description, and the diagnosis of pathoLogic processes, new and innovative spheres of activity are becoming integral to the field, especially in the realm of molecular pathology. Pathology is a Leading player in the new age of "personalized cancer therapy", where pathologists are responsible not only for diagnosing disease in the tissue, but also for conducting additional tests which may predict its response to specific drug therapies. In this context, moLecular pathology has become essential to the field both in the provision of cLinical service and research. To fully implement this trend, we are witness to the rise of tissue collection and tissue banking initiatives for both diagnostic and research purposes. A national tissue banking project in Israel has recently received considerable attention.

  2. 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.

  3. 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results

    Science.gov (United States)

    Fudvoye, Julie; Farhat, Khaldoun; De Halleux, Virginie; Nicolescu, Corina Ramona

    2016-01-01

    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 fifth 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. PMID:27909691

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

    Science.gov (United States)

    Skytthe, A; Valensin, S; Jeune, B; Cevenini, E; Balard, F; Beekman, M; Bezrukov, V; Blanche, H; Bolund, L; Broczek, K; Carru, C; Christensen, K; Christiansen, L; Collerton, J C; Cotichini, R; de Craen, A J M; Dato, S; Davies, K; De Benedictis, G; Deiana, L; Flachsbart, F; Gampe, J; Gilbault, C; Gonos, E S; Haimes, E; Hervonen, A; Hurme, M A; Janiszewska, D; Jylhä, M; Kirkwood, T B L; Kristensen, P; Laiho, P; Leon, A; Marchisio, A; Masciulli, R; Nebel, A; Passarino, G; Pelicci, G; Peltonen, L; Perola, M; Poulain, M; Rea, I M; Remacle, J; Robine, J M; Schreiber, S; Scurti, M; Sevini, F; Sikora, E; Skouteri, A; Slagboom, P E; Spazzafumo, L; Stazi, M A; Toccaceli, V; Toussaint, O; Törnwall, O; Vaupel, J W; Voutetakis, K; Franceschi, C

    2011-11-01

    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 90 years or more together with one younger control person from 15 areas in 11 European countries through a coordinated and standardised effort. A biological sample, preferably a blood sample, was collected from each participant, and basic physical and cognitive measures were obtained together with information about health, life style, and family composition. From 2004 to 2008 a total of 2535 families comprising 5319 nonagenarian siblings were identified and included in the project. In addition, 2548 younger control persons aged 50-75 years were recruited. A total of 2249 complete trios with blood samples from at least two old siblings and the younger control were formed and are available for genetic analyses (e.g. linkage studies and genome-wide association studies). Mortality follow-up improves the possibility of identifying families with the most extreme longevity phenotypes. With a mean follow-up time of 3.7 years the number of families with all participating siblings aged 95 years or more has increased by a factor of 5 to 750 families compared to when interviews were conducted. Thus, the GEHA project represents a unique source in the search for genes related to healthy ageing and longevity.

  5. COST-EFFECTIVE ALLOCATION OF WATERSHED MANAGEMENT PRACTICES USING A GENETIC ALGORITHM

    Science.gov (United States)

    Implementation of conservation programs are perceived as being crucial for restoring and protecting waters and watersheds from non-point source pollution. Success of these programs depends to a great extent on planning tools that can assist the watershed management process. Here-...

  6. Organic rice disease management using genetic resistance, cover crop and organic fertilizer

    Science.gov (United States)

    The strong market demand for organic rice has driven the continued increase of organic rice production in the US. However, growers still lack effective tools to manage narrow brown leaf spot (NBLS) caused by Cercospora janseana and brown spot caused by Cochliobolus miyabeanus, two common diseases af...

  7. 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, m

  8. 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,

  9. Radiation-Induced Heart Disease: Pathologic Abnormalities and Putative Mechanisms

    Directory of Open Access Journals (Sweden)

    Neil K Taunk

    2015-02-01

    Full Text Available Breast cancer is a common diagnosis in women. Breast radiation has become a critical in managing patients who receive breast conserving surgery, or have certain high-risk features after mastectomy. Most patients have an excellent prognosis, therefore understanding the late effects of radiation to the chest is important. Radiation induced heart disease (RIHD comprises a spectrum of cardiac pathology including myocardial fibrosis and cardiomyopathy, coronary artery disease, valvular disease, pericardial disease, and arrhythmias. Tissue fibrosis is a common mediator in RIHD. Multiple pathways converge with both acute and chronic cellular, molecular, and genetic changes to result in fibrosis. In this article, we review the pathophysiology of cardiac disease related to radiation therapy to the chest. Our understanding of these mechanisms has improved substantially, but much work remains to further refine radiation delivery techniques and develop therapeutics to battle late effects of radiation.

  10. [Gunshot wounds: forensic pathology].

    Science.gov (United States)

    Lorin de la Grandmaison, Geoffroy

    2012-02-01

    Gunshot wounds are among the most complex traumatic lesions encountered in forensic pathology. At the time of autopsy, careful scrutiny of the wounds is essential for correct interpretation of the lesions. Complementary pathological analysis has many interests: differentiation between entrance and exit wounds, estimation of firing distance, differentiation between vital and post mortem wounds and wounds dating. In case of multiple headshots, neuropathological examination can provide arguments for or against suicide. Sampling of gunshot wounds at autopsy must be systematic. Pathological data should be confronted respectively to autopsy and death scene investigation data and also ballistic studies. Forensic pathologist must be aware of the limits of optic microscopy.

  11. 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.

  12. 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.

  13. 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.

  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. Population genetics and management units of invasive common carp Cyprinus carpio in the Murray-Darling Basin, Australia.

    Science.gov (United States)

    Haynes, G D; Gilligan, D M; Grewe, P; Nicholas, F W

    2009-08-01

    Common carp Cyprinus carpio were introduced into Australia on several occasions and are now the dominant fish in the Murray-Darling Basin (MDB), the continent's largest river system. In this study, variability at 14 microsatellite loci was examined in C. carpio (n = 1037) from 34 sites throughout the major rivers in the MDB, from 3 cultured populations, from Prospect Reservoir in the Sydney Basin and from Lake Sorrell in Tasmania. Consistent with previous studies, assignment testing indicated that the Boolara, Yanco and koi strains of C. carpio are present in the MDB. Unique to this study, however, the Prospect strain was widely distributed throughout the MDB. Significant genetic structuring of populations (Fisher's exact test, AMOVA and distribution of the different strains) amongst the MDB sub-drainages was detected, and was strongly associated with contemporary barriers to dispersal and population history. The distributions of the strains were used to infer the history of introduction and spread of C. carpio in the MDB. Fifteen management units are proposed for control programmes that have high levels of genetic diversity, contain multiple interbreeding strains and show no evidence of founder effects or recent population bottlenecks.

  16. Anatomical pathology is dead? Long live anatomical pathology.

    Science.gov (United States)

    Nicholls, John M; Francis, Glenn D

    2011-10-01

    The standard diagnostic instrument used for over 150 years by anatomical pathologists has been the optical microscope and glass slide. The advent of immunohistochemistry in the routine laboratory in the 1980s, followed by in situ hybridisation in the 1990s, has increased the armamentaria available to the diagnostic pathologist, and this technology has led to changed patient management in a limited number of neoplastic diseases. The first decade of the 21 century has seen an increasing number of publications using proteomic technologies that promise to change disease diagnosis and management, the traditional role of an anatomical pathologist. Despite the plethora of publications on proteomics and pathology, to date there are actually limited data where proteomic technologies do appear to be of greater diagnostic value than the standard histological slide. Though proteomic techniques will become more prevalent in the future, it will need the expertise of an anatomical pathologist to dissect out and validate this added information.

  17. The genetics of Leigh syndrome and its implications for clinical practice and risk management.

    Science.gov (United States)

    Ruhoy, Ilene S; Saneto, Russell P

    2014-01-01

    Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.

  18. A genetic algorithm based stochastic programming model for air quality management

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    This paper presents a model that can aid planners in defining the total allowable pollutant discharge in the planning region,accounting for the dynamic and stochastic character of meteorological conditions.This is accomplished by integrating Monte Carlo simulation and using genetic algorithm to solve the model.The model is demonstrated by using a realistic air urban-scale SO2 control problem in the Yuxi City of China.To evaluate effectiveness of the model,results of the approach are shown to compare with those of the linear deterministic procedures.This paper also provides a valuable insight into how air quality targets should be made when the air pollutant will not threat the residents'health.Finally,a discussion of the areas for further research are briefly delineated.

  19. Effective population size, genetic variation, and their relevance for conservation: the bighorn sheep in Tiburon Island and comparisons with managed artiodactyls.

    Directory of Open Access Journals (Sweden)

    Jaime Gasca-Pineda

    Full Text Available The amount of genetic diversity in a finite biological population mostly depends on the interactions among evolutionary forces and the effective population size (N(e as well as the time since population establishment. Because the N(e estimation helps to explore population demographic history, and allows one to predict the behavior of genetic diversity through time, N(e is a key parameter for the genetic management of small and isolated populations. Here, we explored an N(e-based approach using a bighorn sheep population on Tiburon Island, Mexico (TI as a model. We estimated the current (N(crnt and ancestral stable (N(stbl inbreeding effective population sizes as well as summary statistics to assess genetic diversity and the demographic scenarios that could explain such diversity. Then, we evaluated the feasibility of using TI as a source population for reintroduction programs. We also included data from other bighorn sheep and artiodactyl populations in the analysis to compare their inbreeding effective size estimates. The TI population showed high levels of genetic diversity with respect to other managed populations. However, our analysis suggested that TI has been under a genetic bottleneck, indicating that using individuals from this population as the only source for reintroduction could lead to a severe genetic diversity reduction. Analyses of the published data did not show a strict correlation between H(E and N(crnt estimates. Moreover, we detected that ancient anthropogenic and climatic pressures affected all studied populations. We conclude that the estimation of N(crnt and N(stbl are informative genetic diversity estimators and should be used in addition to summary statistics for conservation and population management planning.

  20. Effective population size, genetic variation, and their relevance for conservation: the bighorn sheep in Tiburon Island and comparisons with managed artiodactyls.

    Science.gov (United States)

    Gasca-Pineda, Jaime; Cassaigne, Ivonne; Alonso, Rogelio A; Eguiarte, Luis E

    2013-01-01

    The amount of genetic diversity in a finite biological population mostly depends on the interactions among evolutionary forces and the effective population size (N(e)) as well as the time since population establishment. Because the N(e) estimation helps to explore population demographic history, and allows one to predict the behavior of genetic diversity through time, N(e) is a key parameter for the genetic management of small and isolated populations. Here, we explored an N(e)-based approach using a bighorn sheep population on Tiburon Island, Mexico (TI) as a model. We estimated the current (N(crnt)) and ancestral stable (N(stbl)) inbreeding effective population sizes as well as summary statistics to assess genetic diversity and the demographic scenarios that could explain such diversity. Then, we evaluated the feasibility of using TI as a source population for reintroduction programs. We also included data from other bighorn sheep and artiodactyl populations in the analysis to compare their inbreeding effective size estimates. The TI population showed high levels of genetic diversity with respect to other managed populations. However, our analysis suggested that TI has been under a genetic bottleneck, indicating that using individuals from this population as the only source for reintroduction could lead to a severe genetic diversity reduction. Analyses of the published data did not show a strict correlation between H(E) and N(crnt) estimates. Moreover, we detected that ancient anthropogenic and climatic pressures affected all studied populations. We conclude that the estimation of N(crnt) and N(stbl) are informative genetic diversity estimators and should be used in addition to summary statistics for conservation and population management planning.

  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. Combined Surgical Approach of Pars Plana Vitrectomy, Phacoemulsification, and Intraocular Lens Implantation for the Management of Cataract and Posterior Segment Pathologies

    Directory of Open Access Journals (Sweden)

    Cem Özgönül

    2014-03-01

    Full Text Available Objectives: To evaluate the indications, intra- and post-operative complications, and visual results of combined cataract surgery and pars plana vitrectomy. Materials and Methods: Medical records of patients who underwent combined surgery between January 2008 and January 2011 were retrospectively evaluated. Indications for surgery, complications, pre-operative and post-operative visual acuities were recorded. Results: Sixty-four eyes of 64 patients were included in the study. Thirty-five (55% of the patients were men and 29 (45% were women; mean age was 53±21 (6-88 years. Mean follow-up time was 13±12 (1-51 months. The main indications for combined surgery were intravitreal hemorrhage in 19 patients (29.7%, epiretinal membrane in 12 (18.8%, intraocular foreign body in 11 (17.2%, retinal detachment in 9 (14.1%, and macular edema in 7 (11% patients. Posterior capsule rupture in 3 cases and corneal edema in 2 cases were the complications encountered during surgery. Postoperatively, hypotonia occurred in 5 cases and corneal edema in 1. Intraocular pressure elevation was observed in 1 silicon-injected case and 1 propane gas-injected case. The average preoperative visual acuity was 1.90±1.9 (0.22 to 3.10 LogMAR. The average postoperative visual acuity at the last visit was 1.1±1.0 (0.00 to 4.00 LogMAR. The visual acuity increase was statistically significant (p<0.001. Conclusion: Combined surgery is a feasible option for patients with vitreoretinal diseases and cataract. Visual results and complications depend primarily on the underlying posterior segment pathology. (Turk J Ophthalmol 2014; 44: 98-101

  3. Determinants of pathologic mineralization.

    Science.gov (United States)

    Kirsch, Thorsten

    2008-01-01

    Physiologic mineralization is necessary for the formation of skeletal tissues and for their appropriate functions during adulthood. Mineralization has to be controlled and restricted to specific regions. If the mineralization process occurs in regions that normally do not mineralize, there can be severe consequences (pathologic or ectopic mineralization). Recent findings have indicated that physiologic and pathologic mineralization events are initiated by matrix vesicles, membrane-enclosed particles released from the plasma membranes of mineralization-competent cells. The understanding of how these vesicles are released from the plasma membrane and initiate the mineralization process may provide novel therapeutic strategies to prevent pathologic mineralization. In addition, other regulators (activators and inhibitors) of physiologic mineralization have been identified and characterized, and there is evidence that the same factors also contribute to the regulation of pathologic mineralization. Finally, programmed cell death (apoptosis) may be a contributor to physiologic mineralization and if occurring after tissue injury may induce pathologic mineralization and mineralization-related differentiation events in the injured and surrounding areas. This review describes how the understanding of mechanisms and factors regulating physiologic mineralization can be used to develop new therapeutic strategies to prevent pathologic or ectopic mineralization events.

  4. Clinical pathology of amphibians: a review.

    Science.gov (United States)

    Forzán, María J; Heatley, Jill; Russell, Karen E; Horney, Barbara

    2017-03-01

    Amphibian declines and extinctions have worsened in the last 2 decades. Partly because one of the main causes of the declines is infectious disease, veterinary professionals have increasingly become involved in amphibian research, captive husbandry, and management. Health evaluation of amphibians, free-living or captive, can benefit from employing the tools of clinical pathology, something that is commonly used in veterinary medicine of other vertebrates. The present review compiles what is known of amphibian clinical pathology emphasizing knowledge that may assist with the interpretation of laboratory results, provides diagnostic recommendations for common amphibian diseases, and includes RIs for a few amphibian species estimated based on peer-reviewed studies. We hope to encourage the incorporation of clinical pathology in amphibian practice and research, and to highlight the importance of applying veterinary medicine principles in furthering our knowledge of amphibian pathophysiology. © 2017 American Society for Veterinary Clinical Pathology.

  5. 转基因食品安全管理技术研究和发展%Research and development on management of trans-genetic food

    Institute of Scientific and Technical Information of China (English)

    赵建春; 张鹏

    2013-01-01

    The nutrition and diversity make the trans-genetic food taking a rapid development, but its safety has been widespread concerned. This article gives a simple introduction on trans-genetic food, summarizes the status of the world trans-genetic food safety management, analyzes the importance of genetically modified food safety management, and put forward some feasible suggestions to further improve transgenic food safety management. Hope our government can formulate relevant policies to provide reliable protection for the healthy development of genetically modified foods, human health and environmental safety.%转基因食品的营养性和多样性使其得到了快速的发展,其安全性也得到了人们的广泛关注.文章概述世界转基因食品安全管理的现状,分析转基因食品安全管理的重要性,并对进一步完善中国转基因食品安全管理提出一些可行性建议.希望中国能制定相关的政策,为转基因食品的健康发展、人类的健康和环境安全提供可靠的保障.

  6. Using Genetics for Personalized Management of Heritable Thoracic Aortic Disease: How Do We Get There?

    Science.gov (United States)

    Milewicz, Dianna M.; Regalado, Ellen S.

    2015-01-01

    The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections (TAAD). Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature deaths due to dissections is surgical repair of the TAA, typically recommended when the aortic diameter reaches 5.0 – 5.5 cm. Studies on patients with acute aortic dissections indicate that up to 60% occur at aortic diameters less than 5.5 cm. Clinical predictors are thus needed to identify those at risk for dissection at aortic diameter less than 5.0 cm, and to determine the aortic diameter that justifies the risk of surgical repair to prevent an acute aortic dissection. Data from genetic studies over the past decade have established that mutations in specific genes can identify patients at risk for the disease and predict the risk of early dissection at diameters less than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections. PMID:25218541

  7. Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

    Science.gov (United States)

    Milewicz, Dianna M; Regalado, Ellen S

    2015-02-01

    The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections. Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature death resulting from dissection is surgical repair of the thoracic aortic aneurysm, which is typically recommended when the aortic diameter reaches 5.0 to 5.5 cm. Studies of patients with acute aortic dissections, however, indicate that as many as 60% of dissections occur at aortic diameters smaller than 5.5 cm. Clinical predictors are therefore needed to distinguish those at risk for dissection at an aortic diameter smaller than 5.0 cm and to determine the aortic diameter that justifies the risk of surgical repair to prevent an acute aortic dissection. Data from genetic studies during the past decade have established that mutations in specific genes can distinguish patients at risk for the disease and predict the risk of early dissection at diameters smaller than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections.

  8. The genetics of Leigh syndrome and its implications for clinical practice and risk management

    Directory of Open Access Journals (Sweden)

    Ruhoy IS

    2014-11-01

    Full Text Available Ilene S Ruhoy, Russell P Saneto Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USAAbstract: Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.Keywords: mitochondrial disorder, neurodegeneration, multisystemic disease, oxidative phosphorylation, mitochondrial DNA, neuroimaging, seizures

  9. Biology, genetics, and management of ergot (Claviceps spp.) in rye, sorghum, and pearl millet.

    Science.gov (United States)

    Miedaner, Thomas; Geiger, Hartwig H

    2015-02-25

    Ergot is a disease of cereals and grasses caused by fungi in the genus Claviceps. Of particular concern are Claviceps purpurea in temperate regions, C. africana in sorghum (worldwide), and C. fusiformis in pearl millet (Africa, Asia). The fungi infect young, usually unfertilized ovaries, replacing the seeds by dark mycelial masses known as sclerotia. The percentage of sclerotia in marketable grain is strictly regulated in many countries. In winter rye, ergot has been known in Europe since the early Middle Ages. The alkaloids produced by the fungus severely affect the health of humans and warm-blooded animals. In sorghum and pearl millet, ergot became a problem when growers adopted hybrid technology, which increased host susceptibility. Plant traits reducing ergot infection include immediate pollination of receptive stigmas, closed flowering (cleistogamy), and physiological resistance. Genetic, nonpollen-mediated variation in ergot susceptibility could be demonstrated in all three affected cereals. Fungicides have limited efficacy and application is weather dependent. Sorting out the sclerotia from the harvest by photocells is expensive and time consuming. In conclusion, molecular-based hybrid rye breeding could improve pollen fertility by introgressing effective restorer genes thus bringing down the ergot infection level to that of conventional population cultivars. A further reduction might be feasible in the future by selecting more resistant germplasm.

  10. Hereditary Melanoma: Update on Syndromes and Management - Genetics of familial atypical multiple mole melanoma syndrome

    Science.gov (United States)

    Soura, E.; Eliades, P.; Shannon, K.; Stratigos, A.; Tsao, H.

    2015-01-01

    Malignant melanoma is considered the most lethal skin cancer if not detected and treated at its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (i.e. unilateral lineage, multi-generational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation. Such patients have a high risk of developing multiple primary melanomas and internal organ malignancies especially pancreatic cancer; thus, a multidisciplinary approach is necessary in many cases. The value of dermoscopy examination and total body photography performed at regular intervals has been suggested by a number of studies, and should therefore be considered for these patients and their first degree relatives. In addition, genetic counseling with the possibility of testing can be a valuable adjunct for familial melanoma patients. But, this must be performed with care and only by qualified individuals trained in cancer risk analysis. PMID:26892650

  11. Contrasting results from molecular and pedigree-based population diversity measures in captive zebra highlight challenges facing genetic management of zoo populations.

    Science.gov (United States)

    Ito, Hideyuki; Ogden, Rob; Langenhorst, Tanya; Inoue-Murayama, Miho

    2017-01-01

    Zoo conservation breeding programs manage the retention of population genetic diversity through analysis of pedigree records. The range of demographic and genetic indices determined through pedigree analysis programs allows the conservation of diversity to be monitored relative to the particular founder population for a species. Such approaches are based on a number of well-documented founder assumptions, however without knowledge of actual molecular genetic diversity there is a risk that pedigree-based measures will be misinterpreted and population genetic diversity misunderstood. We examined the genetic diversity of the captive populations of Grevy's zebra, Hartmann's mountain zebra and plains zebra in Japan and the United Kingdom through analysis of mitochondrial DNA sequences. Very low nucleotide variability was observed in Grevy's zebra. The results were evaluated with respect to current and historic diversity in the wild, and indicate that low genetic diversity in the captive population is likely a result of low founder diversity, which in turn suggests relatively low wild genetic diversity prior to recent population declines. Comparison of molecular genetic diversity measures with analogous diversity indices generated from the studbook data for Grevy's zebra and Hartmann's mountain zebra show contrasting patterns, with Grevy's zebra displaying markedly less molecular diversity than mountain zebra, despite studbook analysis indicating that the Grevy's zebra population has substantially more founders, greater effective population size, lower mean kinship, and has suffered less loss of gene diversity. These findings emphasize the need to validate theoretical estimates of genetic diversity in captive breeding programs with empirical molecular genetic data. Zoo Biol. 36:87-94, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. Population Structure, Genetic Diversity, Effective Population Size, Demographic History and Regional Connectivity Patterns of the Endangered Dusky Grouper, Epinephelus marginatus (Teleostei: Serranidae), within Malta's Fisheries Management Zone.

    Science.gov (United States)

    Buchholz-Sørensen, Molly; Vella, Adriana

    2016-01-01

    The objective of this study is to describe the genetic population structure and demographic history of the endangered marine fish, Epinephelus marginatus, within Malta's Fisheries Management Zone for the purpose of localised conservation planning. Epinephelus marginatus is a long-lived, sedentary, reef-associated protogynous hermaphrodite with high commercial and recreational value that is at risk of extinction throughout its global distribution. Based on global trends, population substructuring and gaps in local knowledge this has led to an increased interest in evaluation of local stock. Assessment of Maltese demography was based on historical and contemporary catch landings data whilst genetic population structure and regional connectivity patterns were evaluated by examining 175 individuals collected within the central Mediterranean region between 2002 and 2009 using 14 nuclear microsatellite loci. Demographic stock assessment of Maltese E. marginatus' revealed a 99% decline in catch landings between 1947 and 2009 within the Fisheries Management Zone. A contemporary modest mean size was observed, 3 ± 3 kg, where approximately 17% of the population was juvenile, 68% female/sex-changing and 15% were male with a male-to-female sex ratio of 1:5. Genetic analysis describes the overall population of E. marginatus' within the Fisheries Management Zone as decreasing in size (ƟH = 2.2), which has gone through a significant size reduction in the past (M = 0.41) and consequently shows signs of moderate inbreeding (FIS = 0.10, p < 0.001) with an estimated effective population size of 130 individuals. Results of spatially explicit Bayesian genetic cluster analysis detected two geographically distinct subpopulations within Malta's Fisheries Management Zone and that they are connected to a larger network of E. marginatus' within the Sicily Channel. Results suggest conservation management should be designed to reflect E. marginatus' within Malta's Fisheries Management Zone

  13. Population Structure, Genetic Diversity, Effective Population Size, Demographic History and Regional Connectivity Patterns of the Endangered Dusky Grouper, Epinephelus marginatus (Teleostei: Serranidae, within Malta's Fisheries Management Zone.

    Directory of Open Access Journals (Sweden)

    Molly Buchholz-Sørensen

    Full Text Available The objective of this study is to describe the genetic population structure and demographic history of the endangered marine fish, Epinephelus marginatus, within Malta's Fisheries Management Zone for the purpose of localised conservation planning. Epinephelus marginatus is a long-lived, sedentary, reef-associated protogynous hermaphrodite with high commercial and recreational value that is at risk of extinction throughout its global distribution. Based on global trends, population substructuring and gaps in local knowledge this has led to an increased interest in evaluation of local stock. Assessment of Maltese demography was based on historical and contemporary catch landings data whilst genetic population structure and regional connectivity patterns were evaluated by examining 175 individuals collected within the central Mediterranean region between 2002 and 2009 using 14 nuclear microsatellite loci. Demographic stock assessment of Maltese E. marginatus' revealed a 99% decline in catch landings between 1947 and 2009 within the Fisheries Management Zone. A contemporary modest mean size was observed, 3 ± 3 kg, where approximately 17% of the population was juvenile, 68% female/sex-changing and 15% were male with a male-to-female sex ratio of 1:5. Genetic analysis describes the overall population of E. marginatus' within the Fisheries Management Zone as decreasing in size (ƟH = 2.2, which has gone through a significant size reduction in the past (M = 0.41 and consequently shows signs of moderate inbreeding (FIS = 0.10, p < 0.001 with an estimated effective population size of 130 individuals. Results of spatially explicit Bayesian genetic cluster analysis detected two geographically distinct subpopulations within Malta's Fisheries Management Zone and that they are connected to a larger network of E. marginatus' within the Sicily Channel. Results suggest conservation management should be designed to reflect E. marginatus' within Malta's Fisheries

  14. Eponyms in forensic pathology.

    Science.gov (United States)

    Nečas, Pavel; Hejna, Petr

    2012-12-01

    The phenomenon of eponymous terms in forensic pathology is described in this paper. The authors analyzed representative textbooks (monographs) dealing with forensic pathology in both English and German and identified several eponymous terms. The paper aims to present to the reader the most important eponymous terms in forensic pathology. Included in the paper are the following terms: Beckwith's Sign, Casper's Rule, Krönlein's Shot, Lichtenberg's Figures, Nysten's Law, Paltauf's Spots, Puppe's Rule, Sehrt's Sign, Simon's Sign, Sveshnikov's Sign, Tardieu's Spots, Wischnewski Spots, Wydler's Sign. The spread of eponymous terms throughout various languages is mentioned. The linguistic basis of such terms as well as their advantages and disadvantages in specialist fields, and indeed in even wider circles, is discussed. The authors state that the main function of these terms is to facilitate the open flow of unambiguous information among scholars. Eponymous terms in forensic pathology are characteristic for the German speaking countries and for all countries influenced by the German school of forensic pathology. Their usage in the Anglo-Saxon world is much less widespread, meaning they do not occur very often in English monographs and textbooks.

  15. Golden rules in practice of cancer pathology

    African Journals Online (AJOL)

    M.N. El-Bolkainy

    2016-07-21

    Jul 21, 2016 ... The pathologic diagnosis of cancer is an essential initial step in the management of .... this rule is sarcomas of the skin which may be <1 cm but behave .... ever, that survival statistics are just a rough estimate of groups of.

  16. Infrared Spectroscopic Imaging for Prostate Pathology

    Science.gov (United States)

    2008-03-01

    definitive indicator of disease and form the gold standard of diagnosis [2]. Along with clinical history , stage, and PSA values, pathologic diagno...Ramon Llull University, Barcelona, Catalonia , Euro- pean Union Llorà X (2006) Learning Classifier Systems and other genetics-based machine learning...Arquitectura La Salle. Ramon Llull University, Barcelona, Catalonia , European Union, February, 2002. [22] X. Llorà and J. Garrell. Knowledge

  17. Pathologic research update of colorectal neuroendocrine tumors

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Colorectal neuroendocrine tumors (NETs) originate from neuroendocrine cells in the intestinal tract, and represent a small area within oncology, but one which has provided increasing new data during the past years. Although the World Health Organization has determined clinical and histological features to predict prognosis for such tumors, they may not be valid on an individual basis. We aim to give an overview of the recent findings with regard to pathology, molecular genetics and diagnosis of NETs.

  18. Genetic relationships among members of the Ichthyobodo necator complex: implications for the management of aquaculture stocks.

    Science.gov (United States)

    Callahan, H A; Litaker, R W; Noga, E J

    2005-02-01

    Abstract Ichthyobodo necator (costia) is a common and important flagellate parasite that infests the skin and gills of many freshwater and marine fish. Costia infestations are often fatal and cause significant aquaculture losses worldwide. Recently it has been demonstrated that Ichthyobodo is a multispecies complex with differing host preferences. Knowing if those species have broad or narrow host specificity has important implications for the management of costia. To address the question of host specificity, genomic DNA was isolated from Ichthyobodo trophonts collected from rainbow trout, Oncorhynchus mykiss, koi, Cyprinus carpio, mirror carp, C. carpio, goldfish, Carassius auratus, channel catfish, Ictalurus punctatus, swordtail, Xiphophorus helleri, and Japanese flounder, Paralichthys olivaceus. The small subunit ribosomal RNA (SSU rRNA) gene from each isolate was analysed with previously published Ichthyobodo sequences using Bayesian phylogenetic methods. The internal transcribed spacers (ITS) from six isolates were also PCR-amplified, cloned and sequenced. Both the SSU rRNA phylogenetic analysis and the ITS rRNA sequence data support grouping the 22 Ichthyobodo isolates examined into a complex of nine different species. Many of these species were frequently isolated from multiple hosts, indicating that exchange of infested fish from one region to another has a high potential for spreading the disease. In one instance, the same species was obtained from marine and freshwater fish, further suggesting that certain Ichthyobodo species may not be limited by salinity.

  19. Continuum model of tendon pathology - where are we now?

    Science.gov (United States)

    McCreesh, Karen; Lewis, Jeremy

    2013-08-01

    Chronic tendon pathology is a common and often disabling condition, the causes of which remain poorly understood. The continuum model of tendon pathology was proposed to provide a model for the staging of tendon pathology and to assist clinicians in managing this often complex condition (Br. J. Sports Med., 43, 2009, 409). The model presents clinical, histological and imaging evidence for the progression of tendon pathology as a three-stage continuum: reactive tendinopathy, tendon disrepair and degenerative tendinopathy. It also provides clinical information to assist in identifying the stage of pathology, in addition to proposed treatment approaches for each stage. The usefulness of such a model is determined by its ability to incorporate and inform new and emerging research. This review examines the degree to which recent research supports or refutes the continuum model and proposes future directions for clinical and research application of the model. © 2013 The Authors. International Journal of Experimental Pathology © 2013 International Journal of Experimental Pathology.

  20. A CLINICAL STUDY ON INCIDENCE, PATHOLOGICAL PATTERN AND MANAGEMENT OF GASTRIC CARCINOMA IN RURAL SETUP (ADICHUNCHANAGIRI INSTITUTE OF MEDICAL SCIENCES, MANDYA

    Directory of Open Access Journals (Sweden)

    Abinash

    2016-05-01

    Full Text Available BACKGROUND Stomach cancer or gastric cancer is when cancer develops from the lining of stomach. Early symptoms may include heartburn, upper abdominal pain, nausea and loss of appetite. Later symptoms may include weight loss, yellow skin, vomiting, difficulty swallowing and blood in the stool among others. The cancer may spread from the stomach to other parts of the body, particularly the liver, lungs, bones, lining of the abdomen and lymph nodes. The most common cause is infection by the bacteria Helicobacter pylori, which accounts for more than 60% of cases. About 10% of cases run in families and between 1% and 3% of cases are due to genetic syndromes inherited from a person’s parents such as hereditary diffuse gastric cancer. AIMS AND OBJECTIVES 1 To study the prevalence of carcinoma stomach as occurring in Adichunchanagiri Institute of Medical Sciences and Research Centre, Mandya. 2 To study the clinical presentation including the anatomic site of occurrence and histological type. 3 To study the association of risk factors. 4 To study the surgical modalities of treatment. METHODS The tissue for diagnosis was obtained by endoscopy or following surgical resection. Patients presenting to Adichunchanagiri Hospital, Mandya, during the study period and those found eligible were included in the study. Sample Size Minimum of 50 cases meeting criteria of the present study. RESULTS Gastric carcinoma is more common in males with 56% of the cases being males in this study. The prevalence is more among the low socio-economic group, which is 80% of the population. Smoked foods is a risk factor in 15 (30% of the patients and 40 (80% in high spicy diet in everyday food. Tobacco smoking (44%, alcohol consumption (44% are also risk factors. Blood Group A is associated with gastric cancer, 23 (46% patients. Anorexia was the most common symptoms reported in 42 (84% of the patients. Anaemia was the most common sign in 35 (70% of the cases. The most common

  1. Genetic diversity of and differentiation among five populations of blunt snout bream (Megalobrama amblycephala revealed by SRAP markers: implications for conservation and management.

    Directory of Open Access Journals (Sweden)

    Wei Ji

    Full Text Available The blunt snout bream (Megalobrama amblycephala is an important freshwater aquaculture fish throughout China. Because of widespread introductions of this species to many regions, the genetic diversity of wild and natural populations is now threatened. In the present study, SRAP (sequence-related amplified polymorphism markers were used to assess genetic diversity of blunt snout bream. Three natural populations (Liangzi Lake, Poyang Lake and Yuni Lake, one cultured population (Nanxian and one genetic strain ('Pujiang No. 1' of blunt snout bream were screened with 88 SRAP primer combinations, of which 13 primer pairs produced stable and reproducible amplification patterns. In total, 172 bands were produced, of which 132 bands were polymorphic. Nei's gene diversity (h and Shannon's information index (I values provided evidence of differences in genetic diversity among the five populations (Poyang Lake>Liangzi Lake>Nanxian>'Pujiang No. 1'>Yuni Lake. Based on cluster analysis conducted on genetic distance values, the five blunt snout bream populations were divided into three groups, Poyang Lake and Liangzi Lake (natural populations, Nanxian and 'Pujiang No. 1' (cultured population and genetically selected strain, and Yuni Lake (natural population. Significant genetic differentiation was found among the five populations using analysis of molecular variance (AMOVA, with more genetic divergence existing among populations (55.49%, than within populations (44.51%. This molecular marker technique is a simple and efficient method to quantify genetic diversity within and among fish populations, and is employed here to help manage and conserve germplasm variability of blunt snout bream and to support the ongoing selective breeding programme for this fish.

  2. 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.

  3. Implementing genomic medicine in pathology.

    Science.gov (United States)

    Williams, Eli S; Hegde, Madhuri

    2013-07-01

    The finished sequence of the Human Genome Project, published 50 years after Watson and Crick's seminal paper on the structure of DNA, pushed human genetics into the public eye and ushered in the genomic era. A significant, if overlooked, aspect of the race to complete the genome was the technology that propelled scientists to the finish line. DNA sequencing technologies have become more standardized, automated, and capable of higher throughput. This technology has continued to grow at an astounding rate in the decade since the Human Genome Project was completed. Today, massively parallel sequencing, or next-generation sequencing (NGS), allows the detection of genetic variants across the entire genome. This ability has led to the identification of new causes of disease and is changing the way we categorize, treat, and manage disease. NGS approaches such as whole-exome sequencing and whole-genome sequencing are rapidly becoming an affordable genetic testing strategy for the clinical laboratory. One test can now provide vast amounts of health information pertaining not only to the disease of interest, but information that may also predict adult-onset disease, reveal carrier status for a rare disease and predict drug responsiveness. The issue of what to do with these incidental findings, along with questions pertaining to NGS testing strategies, data interpretation and storage, and applying genetic testing results into patient care, remains without a clear answer. This review will explore these issues and others relevant to the implementation of NGS in the clinical laboratory.

  4. Genetic Disease Foundation

    Science.gov (United States)

    ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You can ... contributions to the diagnosis, prevention and treatment of genetic diseases. Learn how advances at Mount Sinai have impacted ...

  5. [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.

  6. 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

  7. 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…

  8. 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.

  9. Pathological Gambling: Psychiatric Models

    Science.gov (United States)

    Westphal, James R.

    2008-01-01

    Three psychiatric conceptual models: addictive, obsessive-compulsive spectrum and mood spectrum disorder have been proposed for pathological gambling. The objectives of this paper are to (1) evaluate the evidence base from the most recent reviews of each model, (2) update the evidence through 2007 and (3) summarize the status of the evidence for…

  10. The Use of DNA Microsatellite Markers for Genetic Diversity Identifi cation of Soybean (Glycine max (L Meriil. as a Supplementary Method in Reference Collections Management

    Directory of Open Access Journals (Sweden)

    Nina Agusti Widaningsih

    2016-02-01

    Full Text Available Large number of new soybean varieties are mostly derived from crosses of elite genotypes resulted ina narrowing of both the genetic diversity and the phylogenetic relationship between soybean varieties. Thus,discrimination among soybean varieties is becoming more diffi cult, especially when morphological traits wereapplied. In Plant Variety Protection (PVP system, new varieties of soybeans including granted PVP right, localand breeding varieties registered in PVP offi ce were frequently increased, implicate on increasingly the numberof soybean varieties collections. To assist the management of varieties collections, a standard fi ngerprinting datais further needed. In comparison to the management of plant collection in the fi eld, molecular marker systemswhich are rapid, reliable, informative and relatively simple are continually sought for practical applications ingermplasm conservation, management and enhancement. This study aimed to identify the genetic diversity andphylogenetic relationship of soybean varieties that have earned PVP Right as well as local varieties and breedingvarieties registered in the PVP offi ce using microsatellite or simple sequence repeats (SSR markers.This study was conducted in Molecular Biology laboratory, Indonesian Center for Agricultural Biotechnologyand Genetic Resources Research and Development (ICABIOGRAD Bogor, from February to May 2013. The datawere analyzed using the genetic analysis package NTSYSpc 2.02i and PowerMarker V3.25. The result showed arelatively narrow genetic diversity among 45 varieties of soybean analyzed in present study which were indicatedby the small number of genotypes and total number of alleles (NA, and the low value of gene diversity and PICvalues (<0.75. Cluster analysis showed that the grouping varieties are not related to morphological characters butrelated to phylogeny relationship between varieties. Despite the group of varieties were not clustered in accordancewith morphological

  11. Clinico-pathologic presentation and management of neurofibromatosis type 1(Von Recklinghausen′s disease among north-eastern Nigerians: A six year review

    Directory of Open Access Journals (Sweden)

    Y W Nyandaiti

    2009-01-01

    Full Text Available Objective: Neurofibromatosis type 1 is not an uncommon disorder, its prevalence is said to be around 1 in 2000-4000 live birth. It has diverse manifestations that may affect any part of the body and present to clinician of any specialty, however, little or no attention have been given to area of neurological, ophthalmological and auditory complications in these patients. This study is aimed at evaluating the clinical, histological presentation and to highlight the need of multi disciplinary approach in the management of this condition. Methodology: The case records of patients who presented with clinical signs and request form with histologically proven neurofibrom atosis were retrieved and reviewed from University of Maiduguri Teaching Hospital and Federal Medical Center Azare from January 2000-December 2005. The clinical characteristics, histological reports and complications were evaluated. Information such as the age, sex, site and histological diagnosis were extracted from the patient′s case notes and histology request form. Results: Forty seven patients fulfill the diagnostics criteria of the national institute of health consensus development conference NIHCDC. The age range was 10-65yrs, with the mean of 27.85yrs. There were 23 males and 24 fern ales, sixteen patients had a positive family history of sim ilar condition in a first degree relative and three are from same parents. Forty one had cutaneous fibroma (87.2% while 6 (12.8% were plexiform. Twenty-nine patients had cafe a laic lesion (61.7%, while 30(63.8% presented with axillaiy and or inguinal freckling. One of the cases presented with osseous lesion and hypertension. The commonest site of neurofibroma was the trunk 16(34%, head and face 11(23%, then the lower limb 10(21.8%. Treatment modality was mainly excision of neurofibroma. Conclusion:This study have documented that NF1 is not an uncommon disorder in this region and has no sex predilection and present commonly within the

  12. 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.

  13. Energy Management Strategy Implementation for Hybrid Electric Vehicles Using Genetic Algorithm Tuned Pontryagin’s Minimum Principle Controller

    Directory of Open Access Journals (Sweden)

    Aishwarya Panday

    2016-01-01

    Full Text Available To reduce apace extraction of natural resources, to plummet the toxic emissions, and to increase the fuel economy for road transportation, hybrid vehicles are found to be promising. Hybrid vehicles use batteries and engine to propel the vehicle which minimizes dependence on liquid fuels. Battery is an important component of hybrid vehicles and is mainly characterized by its state of charge level. Here a modified state of charge estimation algorithm is applied, which includes not only coulomb counting but also open circuit voltage, weighting factor, and correction factor to track the run time state of charge efficiently. Further, presence of battery and engine together needs a prevailing power split scheme for their efficient utilization. In this paper, a fuel efficient energy management strategy for power-split hybrid electric vehicle using modified state of charge estimation method is developed. Here, the optimal values of various governing parameters are firstly computed with genetic algorithm and then fed to Pontryagin’s minimum principle to decide the threshold power at which engine is turned on. This process makes the proposed method robust and provides better chance to improve the fuel efficiency. Engine efficient operating region is identified to operate vehicle in efficient regions and reduce fuel consumption.

  14. Multi Objective Genetic Algorithm for Congestion Management in Deregulated Power System Using Generator Rescheduling and Facts Devices

    Directory of Open Access Journals (Sweden)

    S. Sivakumar

    2014-10-01

    Full Text Available The problem of congestion management is more pronounced in deregulated environment as the participants of the energy market are market oriented rather than socially responsible-as exhibited by the government operated bundled system. Customers would like to purchase the electricity from the cheapest available sources. The seller in energy market would like to derive more benefit out of their investments, engages with contracts that may lead to overloading of the transmission elements of the power system. An Independent System Operator (ISO who has no vested interest in the energy market, coordinates the trades and make sure that the interconnected power system always operates in a secure state at a minimum cost by meeting the all the load requirements and losses. In this proposed study, Congestion is mitigated by Generator Rescheduling and implementation of FACTS devices. Minimization of rescheduling costs of the generator and minimization of the cost of deploying FACTS devices are taken as the objectives of the given multi-objective optimization problem. Non-dominated sorting genetic algorithm II is used to solve this problem by implementing the series FACTS device namely TCSC and shunt FACTS device namely SVC. The proposed algorithm is tested on IEEE 30 bus system.

  15. Pathologic pancreatic endocrine cell hyperplasia

    Institute of Scientific and Technical Information of China (English)

    Debra Ouyang; Deepti Dhall; Run Yu

    2011-01-01

    Pathologic hyperplasia of various pancreatic endocrine cells is rare but has been long known. β cell hyperplasia contributes to persistent hyperinsulinemic hypoglycemia of infancy, which is commonly caused by mutations in the islet ATP-sensitive potassium channel, and to noninsulinoma pancreatogenous hypoglycemia in adults,which may or may not be associated with bariatric surgery.α cell hyperplasia may cause glucagonoma syndrome or induce pancreatic neuroendocrine tumors. An inactivating mutation of the glucagon receptor causes α cell hyperplasia and asymptomatic hyperglucagonemia.Pancreatic polypeptide cell hyperplasia has been described without a clearly-characterized clinical syndrome and hyperplasia of other endocrine cells inside the pancreas has not been reported to our knowledge.Based on morphological evidence, the main pathogenetic mechanism for pancreatic endocrine cell hyperplasia is increased endocrine cell neogenesis from exocrine ductal epithelium. Pancreatic endocrine cell hyperplasia should be considered in the diagnosis and management of hypoglycemia, elevated islet hormone levels,and pancreatic neuroendocrine tumors. Further studies of pathologic pancreatic endocrine cell hyperplasia will likely yield insights into the pathogenesis and treatment of diabetes and pancreatic neuroendocrine tumors.

  16. Pathologic pancreatic endocrine cell hyperplasia

    Science.gov (United States)

    Ouyang, Debra; Dhall, Deepti; Yu, Run

    2011-01-01

    Pathologic hyperplasia of various pancreatic endocrine cells is rare but has been long known. β cell hyperplasia contributes to persistent hyperinsulinemic hypoglycemia of infancy, which is commonly caused by mutations in the islet ATP-sensitive potassium channel, and to non-insulinoma pancreatogenous hypoglycemia in adults, which may or may not be associated with bariatric surgery. α cell hyperplasia may cause glucagonoma syndrome or induce pancreatic neuroendocrine tumors. An inactivating mutation of the glucagon receptor causes α cell hyperplasia and asymptomatic hyperglucagonemia. Pancreatic polypeptide cell hyperplasia has been described without a clearly-characterized clinical syndrome and hyperplasia of other endocrine cells inside the pancreas has not been reported to our knowledge. Based on morphological evidence, the main pathogenetic mechanism for pancreatic endocrine cell hyperplasia is increased endocrine cell neogenesis from exocrine ductal epithelium. Pancreatic endocrine cell hyperplasia should be considered in the diagnosis and management of hypoglycemia, elevated islet hormone levels, and pancreatic neuroendocrine tumors. Further studies of pathologic pancreatic endocrine cell hyperplasia will likely yield insights into the pathogenesis and treatment of diabetes and pancreatic neuroendocrine tumors. PMID:21245985

  17. Nasu-Hakola Syndrome: An Unusual Cause of Pathological Fractures

    Directory of Open Access Journals (Sweden)

    Jaykar R. Panchmatia

    2012-01-01

    Full Text Available Nasu-Hakola syndrome is a hereditary cause of pathological fractures. Uniquely, patients also develop neuropsychiatric symptoms and signs. The disease is ultimately fatal. We propose a management strategy for pathological fractures in sufferers based on the stage of the disease.

  18. Genetics Home Reference: lateral meningocele syndrome

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Lehman syndrome Other Diagnosis and Management Resources (1 link) ... in my area? Other Names for This Condition Lehman syndrome LMS Related Information How are genetic conditions ...

  19. Patterns of genetic diversity resulting from bottlenecks in European black pine, with implications on local genetic conservation and management practices in Bulgaria

    NARCIS (Netherlands)

    Naydenov, Krassimir D.; Mladenov, Ivica; Alexandrov, Alexander; Naydenov, Michel K.; Gyuleva, Veselka; Goudiaby, Venceslas; Nikolić, Biljana; Kamary, Salim

    2015-01-01

    In the present study, we investigated the genetic structure and diversity of P.nigra populations in Bulgaria, using simple sequence nuclear repeats. Among-population structure was studied with distance and Bayesian frequency methods, assuming geometric distance and a “non-admixture” model. The “N

  20. 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 ar

  1. Surgical pathology and the patient: a systematic review evaluating the primary audience of pathology reports.

    Science.gov (United States)

    Mossanen, Matthew; True, Lawrence D; Wright, Jonathan L; Vakar-Lopez, Funda; Lavallee, Danielle; Gore, John L

    2014-11-01

    The pathology report is a critical document that helps guide the management of patients with cancer. More and more patients read their reports, intending to participate in decisions about their care. However, a substantial subset of patients may lack the ability to comprehend this often technical and complex document. We hypothesized that most literature on pathology reports discusses reports from the perspective of other physicians and not from the perspective of patients. An expert panel of physicians developed a list of search criteria, which we used to identify articles on PubMed, MEDLINE, Cochrane Reviews, and Google Scholar databases. Two reviewers independently evaluated all articles to identify for detailed review those that met search criteria. We identified the primary audience of the selected articles and the degree to which these articles addressed clarity of communication of pathology reports with patients. Of 801 articles identified in our search, 25 involved the formatting of pathology reports for clarity of communication. Recurrent themes in proposed improvements in reports included content standardization, variation in terminology, clarity of communication, and quality improvement. No articles discussed patients as their target audience. No study evaluated the health literacy level required of patients to comprehend pathology reports. In summary, there is a scarcity of patient-centered approaches to improve pathology reports. The literature on pathology reports does not include patients as a target audience. Limited resources are available to help patients comprehend their reports. Efforts to improve patient-centered communication are desirable to address this overlooked aspect of patient care.

  2. Feline oral pathology

    OpenAIRE

    Costa, S.; Pais, B.; Almeida, D.; Simões, J.; Mega, A. C.; Vala, Helena

    2013-01-01

    The main pathologies of the oral cavity are of utmost importance, not only by the number of exposed individuals, but also by the consequences which stems. With the development of this work, we intend to conduct a brief approach to the same, since, specifically affecting domestic felines. Feline Lymphoplasmatic Gingivostomatitis (GELF), the Feline Odontoclastic Reabsorption Lesions (LROF) Complex and gingivitis-stomatitis-pharyngitis, have been studied, some of which are considered an enigma i...

  3. Envy's pathology: Historical contexts.

    Science.gov (United States)

    Minou, Lina

    2017-01-01

    This article is concerned with the physicality of envy primarily in early -modern, but also in eighteenth-century health contexts. The discussion brings together descriptions of the effects of envy on the body of the envier, mainly from works of physiology and health preservation, but also from literary and spiritual writings. These depictions of envy are studied beyond their symbolism and with a view to establish whether they are meaningful according to the medical theories of the time in which they occur. The discussion begins by acknowledging the status of envy as a 'disease' and looks to the specific ways in which the discourse of envy conveys this sense. I find that in the early modern discourse envy is always pathological, that is, it is experienced as disease and signifies disease in general and several diseases in particular. Moreover, envy is uniquely placed to convey pathology on account of its being connected to inherently pathogenic elements of the humoural theory. Specifically, envy is physiologically connected to melancholy, and the way it is presented comes close to attributes assigned to black bile. In addition, envy realizes pathology, the occurrence of disease in the body, by impairing the vital process of digestion and thus depriving the person from proper nourishment and sustenance. The analysis further considers how this impairment of the body fits with the physiological manifestation of envy as 'corrosion' and 'consumption'. Finding commonalities with other maladies mediated by these physiological signs the article concludes by considering the function of pathology in the conception of early modern envy.

  4. Masochism and pathological gambling.

    Science.gov (United States)

    Rosenthal, Richard J

    2015-03-01

    That all pathological gamblers have an "unconscious wish to lose," an idea first expressed by Freud and Bergler, is neither true nor useful; wrong as well, however, are the reasons for neglecting masochism in relation to gambling. There is a small but clinically significant subgroup of pathological gamblers who are masochistic. I present clinical vignettes and a more extended treatment account to illustrate its importance. Masochism has been a confusing concept. As used here it refers to the deliberate seeking of pain, loss, suffering, or humiliation. There may be pleasure in pain, or an obligatory combining of pleasure and pain. A sense of power and control may be achieved through suffering. The case material illustrates clinically useful types (sexual masochism, masochistic personality disorder, moral masochism, relational masochism) as well as some common masochistic dynamics encountered in the treatment of pathological gamblers. These masochistic patterns are often identifiable during the initial evaluation. Distinguishing features may include a reversal of normal attitudes about winning and losing, the absence of an early winning phase, sometimes a memorable early loss. Gamblers may sabotage opportunities for success or create unnecessary obstacles for themselves. Losing may be more comfortable than winning or may be overtly sexualized.

  5. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer.

    Science.gov (United States)

    Giardiello, Francis M; Allen, John I; Axilbund, Jennifer E; Boland, C Richard; Burke, Carol A; Burt, Randall W; Church, James M; Dominitz, Jason A; Johnson, David A; Kaltenbach, Tonya; Levin, Theodore R; Lieberman, David A; Robertson, Douglas J; Syngal, Sapna; Rex, Douglas K

    2014-08-01

    The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3-6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided.

  6. Optical and digital microscopic imaging techniques and applications in pathology

    OpenAIRE

    Xiaodong Chen; Bin Zheng; Hong Liu

    2011-01-01

    The conventional optical microscope has been the primary tool in assisting pathological examinations. The modern digital pathology combines the power of microscopy, electronic detection, and computerized analysis. It enables cellular-, molecular-, and genetic-imaging at high efficiency and accuracy to facilitate clinical screening and diagnosis. This paper first reviews the fundamental concepts of microscopic imaging and introduces the technical features and associated clinical applications o...

  7. [Pathology of Charcot-Marie-Tooth Disease].

    Science.gov (United States)

    Oka, Nobuyuki

    2016-01-01

    Although genetic testing is available, nerve biopsy is useful in selected patients for the diagnosis of Charcot-Marie-Tooth disease (CMT). These are sporadic cases of hereditary neuropathy, or familial cases in which genetic testing is negative. CMT is caused by mutations of various genes. The pathological features of CMT have mostly been investigated using nerve biopsy, which may shed light on the presumed functions of mutated gene products. PMP22 duplication in CMT1A induces numerous large onion bulb lesions (OB). Compared to chronic inflammatory demyelinating polyradiculoneuropathy, the differential features of CMT1A are patchy distribution of OB and non-inflammatory lesions. CMT1B also manifests as OB, but presents abnormal compaction of myelin sheaths caused by uncompacted myelin or excessive myelin folding. CMT2 includes axonal neuropathies and many causative genes have been found. CMT2A (MFN2 mutation) shows abnormal mitochondria with a spherical morphology instead of tubular in the longitudinal direction. CMT4 consists of autosomal recessive forms with demyelinating pathology. Most subtypes have mutations of genes relating to myelin maintenance, and pathologically, they show abnormal folding of the myelin structure.

  8. 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

  9. 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.

  10. Practical pathology of aging mice

    Directory of Open Access Journals (Sweden)

    Piper M. M. Treuting

    2011-06-01

    Full Text Available Old mice will have a subset of lesions as part of the progressive decline in organ function that defines aging. External and palpable lesions will be noted by the research, husbandry, or veterinary staff during testing, cage changing, or physical exams. While these readily observable lesions may cause alarm, not all cause undue distress or are life-threatening. In aging research, mice are maintained until near end of life that, depending on strain and genetic manipulation, can be upwards of 33 months. Aging research has unique welfare issues related to age-related decline, debilitation, fragility, and associated pain of chronic diseases. An effective aging research program includes the collaboration and education of the research, husbandry, and veterinary staff, and of the members of the institution animal care and use committee. This collaborative effort is critical to humanely maintaining older mice and preventing excessive censorship due to non-lethal diseases. Part of the educational process is becoming familiar with how old mice appear clinically, at necropsy and histopathologically. This baseline knowledge is important in making the determination of humane end points, defining health span, contributing causes of death and effects of interventions. The goal of this paper is to introduce investigators to age-associated diseases and lesion patterns in mice from clinical presentation to pathologic assessment. To do so, we present and illustrate the common clinical appearances, necropsy and histopathological lesions seen in subsets of the aging colonies maintained at the University of Washington.

  11. [Pathology and viral metagenomics, a recent history].

    Science.gov (United States)

    Bernardo, Pauline; Albina, Emmanuel; Eloit, Marc; Roumagnac, Philippe

    2013-05-01

    Human, animal and plant viral diseases have greatly benefited from recent metagenomics developments. Viral metagenomics is a culture-independent approach used to investigate the complete viral genetic populations of a sample. During the last decade, metagenomics concepts and techniques that were first used by ecologists progressively spread into the scientific field of viral pathology. The sample, which was first for ecologists a fraction of ecosystem, became for pathologists an organism that hosts millions of microbes and viruses. This new approach, providing without a priori high resolution qualitative and quantitative data on the viral diversity, is now revolutionizing the way pathologists decipher viral diseases. This review describes the very last improvements of the high throughput next generation sequencing methods and discusses the applications of viral metagenomics in viral pathology, including discovery of novel viruses, viral surveillance and diagnostic, large-scale molecular epidemiology, and viral evolution.

  12. Pathology of Mitochondrial Encephalomyopathies

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-08-01

    Full Text Available The role of the muscle biopsy, histochemistry, electronmicroscopy, measurement of respiratory chain enzymes, and genetic studies in the diagnosis of mitochondrial cytopathies (MC is reviewed by researchers at the University of Calgary and Alberta Children’s Hospital, Canada.

  13. Pathology of intrahepatic cholangiocarcinoma

    Science.gov (United States)

    Vijgen, Sandrine; Terris, Benoit

    2017-01-01

    Intrahepatic cholangiocarcinoma (iCC) is a primary carcinoma of the liver with increasing significance and major pathogenic, clinical and therapeutic challenges. Classically, it arises from malignant transformation of cholangiocytes bordering small portal bile duct (BD) to second-order segmental large BDs. It has three major macroscopic growth pattern [mass-forming (MF), periductal infiltrative (PI), and intraductal growth (IG)] and histologically is a desmoplastic stroma-rich adenocarcinoma with cholangiocyte differentiation. Recent data pointed out noteworthy degree of heterogeneity in regards of their epidemiology and risk factors, pathological and molecular features, pathogenesis, clinical behaviors and treatment. Notably, several histological variants are described and can coexist within the same tumor. Several different cells of origin have also been depicted in a fraction of iCCs, amongst which malignant transformation of ductules, of hepatic stem/progenitor cells, of periductal glands or through oncogenic reprogramming of adult hepatocytes. A degree of pathological overlap with hepatocellular carcinoma (HCC) may be observed in a portion of iCC. A series of precursor lesions are today characterized and emphasize the existence of a multistep carcinogenesis process. Overall, these new data have brought up in proposal of new histological or molecular classifications, which could soon replace current anatomic-based classification and could have major impact on establishment of prognosis and on development of novel target treatment approaches. PMID:28261592

  14. [(Impending) pathological fracture].

    Science.gov (United States)

    Sutter, P M; Regazzoni, P

    2002-01-01

    Pathological fractures will be encountered in increasing frequency due to more patients with cancer, surviving a longer period. The skeleton is the third most frequent localization for metastases. Breast cancer is still the most common primary tumor, but bone metastases from lung cancer seem to be diagnosed more and more. Despite of finding metastases most often in the spinal column, fractures are seen mostly at the femoral site. A pathological fracture and, in almost all cases, an impending fracture are absolute indication for operation. An exact definition of an "impending fracture" is still lacking; it is widely accepted, that 50 per cent of bone mass must be destroyed before visualization in X-ray is possible, thus defining an impending fracture. The score system by Mirels estimates the fracture risk by means of four parameters (localization, per cent of destructed bone mass, type of metastasis, pain). Improving quality of life, relieving pain, preferably with a single operation and a short length of stay are the goals of (operative) treatment. For fractures of the proximal femur, prosthetic replacement, for fractures of the subtrochanteric region or the shaft, intramedullary nails are recommended. Postoperative radiation therapy possibly avoids tumor progression. In patient with a good long term prognosis, tumor should be removed locally aggressive.

  15. Evolution of occlusal pathology. A literature review.

    OpenAIRE

    2013-01-01

    Introduction: Many of the guidelines on occlusion and treatment alternatives in dentate and partially edentulous patients, are based on concepts raised in the beginning of dentistry. The diversity of the occlusion schools has become some of these concepts complex to understand and apply. This diversity makes difficult the compression of the occlusal physiology and its disorders, hindering the understanding of the occlusal pathology and its proper diagnosis and management. Objective: This is w...

  16. 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.

  17. 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.

  18. A genetic algorithm to solve a three-echelon capacitated location problem for a distribution center within a solid waste management system in the northern region of Veracruz, Mexico

    National Research Council Canada - National Science Library

    María del Rosario Pérez-Salazar; Nicolás Francisco Mateo-Díaz; Rogelio García-Rodríguez; Carlos Eusebio Mar-Orozco; Lidilia Cruz-Rivero

    2015-01-01

    .... The decision regarding facility location is the central issue in solid waste management. A mixed integer linear programming model of the capacitated facility location problem is proposed and then a genetic algorithm is designed to optimize the model...

  19. Inspiration of the Traceability Management System of Genetically Modified Food in Australia to China%澳大利亚转基因食品溯源管理体系对我国的启示

    Institute of Scientific and Technical Information of China (English)

    马娟; 杨玉

    2016-01-01

    This article introduces the traceability management system of genetically modified food in Australia from the aspects of legislation, authorization and supervision and the identification and management of genetically modified food. In view of the present situation of the traceability management of genetically modified food in China, the author puts forward some effective countermeasures to seek inspiration from the traceability management system of genetically modified food in Australia.%文章从转基因食品立法、授权与监督和标识管理方面系统介绍了澳大利亚转基因食品溯源管理体系,并针对国内转基因食品溯源管理现状提出有效对策,以期通过澳大利亚转基因食品溯源管理体系中寻求启示。

  20. 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.

  1. Best practices for clinical pathology testing in carcinogenicity studies.

    Science.gov (United States)

    Young, Jamie K; Hall, Robert L; O'Brien, Peter; Strauss, Volker; Vahle, John L

    2011-02-01

    The Society of Toxicologic Pathology (STP) and American Society for Veterinary Clinical Pathology (ASCVP) convened a Clinical Pathology in Carcinogenicity Studies Working Group to recommend best practices for inclusion of clinical pathology testing in carcinogenicity studies. Regulatory guidance documents and literature were reviewed, and veterinary pathologists from North America, Japan, and Europe were surveyed regarding current practices, perceived value, and recommendations for clinical pathology testing in carcinogenicity studies. For two-year rodent carcinogenicity studies, the Working Group recommends that clinical pathology testing be limited to collection of blood smears at scheduled and unscheduled sacrifices to be examined only if indicated to aid in the diagnosis of possible hematopoietic neoplasia following histopathologic evaluation. Additional clinical pathology testing is most appropriately used to address specific issues from prior toxicity studies or known test article-related class effects. Inadequate data were available to make a recommendation concerning clinical pathology testing for alternative six-month carcinogenicity assays using genetically modified mice, although the Working Group suggests that it may be appropriate to use the same approach as for two-year carcinogenicity studies since the study goal is the same.

  2. Semen cryopreservation for ex situ management of genetic diversity in chicken: creation of the French avian cryobank

    National Research Council Canada - National Science Library

    Blesbois, E; Seigneurin, F; Grasseau, I; Limouzin, C; Besnard, J; Gourichon, D; Coquerelle, G; Rault, P; Tixier-Boichard, M

    2007-01-01

    The need for semen preservation in domestic birds is a result of the reduction in genetic variability of domestic bird livestock and of the increasing risk of line extinction for health and safety reasons...

  3. Analysis of six stages supply chain management in inventory optimization for warehouse with artificial bee colony algorithm using genetic algorithm

    Directory of Open Access Journals (Sweden)

    Ajay Singh Yadav

    2017-09-01

    Full Text Available The purpose of the proposed study is to give a new dimension on warehouse with Artificial bee colony algorithm using genetic algorithm processes in six stages - 11 member supply chain in inventory optimization to describe the certain and uncertain market demand which is based on supply reliability and to develop more realistic and more flexible models. we hope that the proposed study has a great potential to solve various practical tribulations related to the warehouse using genetic algorithm processes in six stages - 11 member supply chain in inventory optimization and also provide a general review for the application of soft computing techniques like genetic algorithms to use for improve the effectiveness and efficiency for various aspect of warehouse with Artificial bee colony algorithm using genetic algorithm.

  4. Low genetic diversity in Clarias macrocephalus Günther, 1864 (Siluriformes: Clariidae populations in the Philippines and its implications for conservation and management

    Directory of Open Access Journals (Sweden)

    Marc Timothy C. Tan

    2016-06-01

    Full Text Available Clarias macrocephalus Günther, 1864 is a Near Threatened freshwater catfish found in the Philippines and other Southeast Asian countries.  Its numbers have dwindled over the past few years because of habitat loss and competition.  This study examined the genetic diversity of the remaining viable populations of C. macrocephalus in the Philippines.  Primers were designed to amplify via polymerase chain reaction (PCR the complete mitochondrial DNA (mtDNA control region (870-bp in 120 specimens collected from three sites: (1 Buguey, Cagayan; (2 Camalaniugan, Cagayan; and (3 Agusan del Sur.  Of the 120 sequences generated, only three haplotypes and two polymorphic sites were found. Overall haplotype and nucleotide diversity (h=0.479, π=0.00058 were alarmingly low, consistent with populations of other freshwater fishes that have experienced a genetic bottleneck.  The overall FST value was 0.80050, indicative of large genetic differentiation between populations.  The very low genetic variation found in all three C. macrocephalus populations calls for conservation and management efforts for the protection of the remaining populations of this economically important species.

  5. No pain, no pathology?

    Science.gov (United States)

    Sharma, Devesh; Govind, Abha

    2012-10-26

    A 22-year-old girl who had a background of reflux nephropathy and urinary tact infection presented during the night with renal angle pain and vomiting. She was treated on the emergency department (ED) pyelonephritis protocol and admitted to the short stay ward. When reviewed the next morning she was aymptomatic and feeling better. It seemed likely that she would be discharged but an ED ultrasound showed right-sided hydronephrosis and some fluid between the liver and the right kidney. CT examination confirmed the suspicion of renal tract obstruction and ruptured calyx. An 8 mm calculus was found to be the cause of the pathology. Urgent urological review was organised and the system formally decompressed with a J-J stent inserted cystoscopically later that day.

  6. Population genetic structure of eelgrass (Zostera marina) on the Korean coast: Current status and conservation implications for future management.

    Science.gov (United States)

    Kim, Jae Hwan; Kang, Ji Hyoun; Jang, Ji Eun; Choi, Sun Kyeong; Kim, Min Ji; Park, Sang Rul; Lee, Hyuk Je

    2017-01-01

    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 southern tip of

  7. Population genetic structure of eelgrass (Zostera marina) on the Korean coast: Current status and conservation implications for future management

    Science.gov (United States)

    Kim, Jae Hwan; Kang, Ji Hyoun; Jang, Ji Eun; Choi, Sun Kyeong; Kim, Min Ji; Park, Sang Rul; Lee, Hyuk Je

    2017-01-01

    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 southern

  8. Digital pathology: Attitudes and practices in the Canadian pathology community

    Directory of Open Access Journals (Sweden)

    Magdaleni Bellis

    2013-01-01

    Full Text Available Digital pathology is a rapidly evolving niche in the world of pathology and is likely to increase in popularity as technology improves. We performed a questionnaire for pathologists and pathology residents across Canada, in order to determine their current experiences and attitudes towards digital pathology; which modalities digital pathology is best suited for; and to assess the need for training in digital pathology amongst pathology residents and staff. An online survey consisting of 24 yes/no, multiple choice and free text questions regarding digital pathology was sent out via E-mail to all members of the Canadian Association of Pathologists and pathology residents across Canada. Survey results showed that telepathology (TP is used in approximately 43% of institutions, primarily for teaching purposes (65%, followed by operating room consults (46%. Seventy-one percent of respondents believe there is a need for TP in their practice; 85% use digital images in their practice. The top two favored applications for digital pathology are teaching and consultation services, with the main advantage being easier access to cases. The main limitations of using digital pathology are cost and image/diagnostic quality. Sixty-two percent of respondents would attend training courses in pathology informatics and 91% think informatics should be part of residency training. The results of the survey indicate that Pathologists and residents across Canada do see a need for TP and the use of digital images in their daily practice. Integration of an informatics component into resident training programs and courses for staff Pathologists would be welcomed.

  9. Semantic Integrative Digital Pathology: Insights into Microsemiological Semantics and Image Analysis Scalability.

    Science.gov (United States)

    Racoceanu, Daniel; Capron, Frédérique

    2016-01-01

    Being able to provide a traceable and dynamic second opinion has become an ethical priority for patients and health care professionals in modern computer-aided medicine. In this perspective, a semantic cognitive virtual microscopy approach has been recently initiated, the MICO project, by focusing on cognitive digital pathology. This approach supports the elaboration of pathology-compliant daily protocols dedicated to breast cancer grading, in particular mitotic counts and nuclear atypia. A proof of concept has thus been elaborated, and an extension of these approaches is now underway in a collaborative digital pathology framework, the FlexMIm project. As important milestones on the way to routine digital pathology, a series of pioneer international benchmarking initiatives have been launched for mitosis detection (MITOS), nuclear atypia grading (MITOS-ATYPIA) and glandular structure detection (GlaS), some of the fundamental grading components in diagnosis and prognosis. These initiatives allow envisaging a consolidated validation referential database for digital pathology in the very near future. This reference database will need coordinated efforts from all major teams working in this area worldwide, and it will certainly represent a critical bottleneck for the acceptance of all future imaging modules in clinical practice. In line with recent advances in molecular imaging and genetics, keeping the microscopic modality at the core of future digital systems in pathology is fundamental to insure the acceptance of these new technologies, as well as for a deeper systemic, structured comprehension of the pathologies. After all, at the scale of routine whole-slide imaging (WSI; ∼0.22 µm/pixel), the microscopic image represents a structured 'genomic cluster', enabling a naturally structured support for integrative digital pathology approaches. In order to accelerate and structure the integration of this heterogeneous information, a major effort is and will continue to

  10. Rates of inbreeding and genetic adaptation for populations managed as herds in zoos with a rotational mating system or with optimized contribution of parents.

    Science.gov (United States)

    Mucha, S; Komen, H

    2016-08-01

    This study compares two genetic management scenarios for species kept in herds, such as deer. The simulations were designed so that their results can be extended to a wide range of zoo populations. In the first scenario, the simulated populations of size 3 × 20, 6 × 40 or 20 × 60 (herds × animals in herd) were managed with a rotational mating (RM) scheme in which 10%, 20% or 50% of males were selected for breeding and moved between herds in a circular fashion. The second scenario was based on optimal contribution theory (OC). OC requires an accurate pedigree to calculate kinship; males were selected and assigned numbers of offspring to minimize kinship in the next generation. RM was efficient in restriction of inbreeding and produced results comparable with OC. However, RM can result in genetic adaptation of the population to the zoo environment, in particular when 20% or less males are selected for rotation and selection of animals is not random. Lowest rates of inbreeding were obtained by combining OC with rotation of males as in the RM scheme. RM is easy to implement in practice and does not require pedigree data. When full pedigree is available, OC management is preferable. © 2015 Blackwell Verlag GmbH.

  11. Nontraditional applications in clinical pathology.

    Science.gov (United States)

    Jordan, Holly L; Register, Thomas C; Tripathi, Niraj K; Bolliger, Anne Provencher; Everds, Nancy; Zelmanovic, David; Poitout, Florence; Bounous, Denise I; Wescott, Debra; Ramaiah, Shashi K

    2014-10-01

    Most published reviews of preclinical toxicological clinical pathology focus on the fundamental aspects of hematology, clinical chemistry, coagulation, and urinalysis in routine toxicology animal species, for example, rats, mice, dogs, and nonhuman primates. The objective of this continuing education course was to present and discuss contemporary examples of nonroutine applications of clinical pathology endpoints used in the drug development setting. Area experts discussed bone turnover markers of laboratory animal species, clinical pathology of pregnant and growing laboratory animals, clinical pathology of nonroutine laboratory animal species, and unique applications of the Siemens Advia(®) hematology analyzer. This article is a summary based on a presentation given at the 31st Annual Symposium of the Society of Toxicologic Pathology, during the Continuing Education Course titled "Nontraditional Applications of Clinical Pathology in Drug Discovery and Preclinical Toxicology."

  12. 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

    2017-04-02

    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.

  13. 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

  14. [Psychiatric comorbidity in pathological gambling].

    Science.gov (United States)

    Skokauskas, Norbertas; Satkeviciūte, Regina; Burba, Benjaminas

    2003-01-01

    In this article the peculiarities of psychiatric comorbidity in pathological gambling were investigated. The authors were based both on the data of many foreign scientists and on their own one. Our data on 77 cases of pathological gambling were collected based on interviews of Lithuanian psychiatrists and psychotherapists about their patients with gambling addiction in period from 1991 to 2001. The data that we publish and analyze allows us to make conclusions that pathological gambling can reveal together with very wide spectrum of psychiatric disorders, but more often with alcoholism and depression. The mechanism of psychiatric comorbidity in pathological gambling is very complex.

  15. Recommendations for pathology peer review.

    Science.gov (United States)

    Morton, Daniel; Sellers, Rani S; Barale-Thomas, Erio; Bolon, Brad; George, Catherine; Hardisty, Jerry F; Irizarry, Armando; McKay, Jennifer S; Odin, Marielle; Teranishi, Munehiro

    2010-12-01

    Pathology peer review verifies and improves the accuracy and quality of pathology diagnoses and interpretations. Pathology peer review is recommended when important risk assessment or business decisions are based on nonclinical studies. For pathology peer review conducted before study completion, the peer-review pathologist reviews sufficient slides and pathology data to assist the study pathologist in refining pathology diagnoses and interpretations. Materials to be reviewed are selected by the peer-review pathologist. Consultations with additional experts or a formal (documented) pathology working group may be used to resolve discrepancies. The study pathologist is solely responsible for the content of the final pathology data and report, makes changes resulting from peer-review discussions, initiates the audit trail for microscopic observations after all changes resulting from peer-review have been made, and signs the final pathologist's report. The peer-review pathologist creates a signed peer-review memo describing the peer-review process and confirming that the study pathologist's report accurately and appropriately reflects the pathology data. The study pathologist also may sign a statement of consensus. It is not necessary to archive working notes created during the peer-review process.

  16. Pathological features and clinical managements of nasopharyngeal angiofibroma%鼻咽血管纤维瘤的病理特征和临床处理的探讨

    Institute of Scientific and Technical Information of China (English)

    林昶; 李志春; 程金妹; 林功标; 周爱东; 易自翔

    2008-01-01

    目的 探讨鼻咽血管纤维瘤(nasopharyngeal angiofibroma,NA)的病理特征和临床处理应予注意的问题.方法 回顾性分析1981年10月至2007年5月福建医科大学附属第一医院耳鼻咽喉头颈外科收治的35例NA患者的资料,分析其病理特征、好发部位、术中出血原因和诊疗的经验教训.按Fish分期:Ⅰ期6例,Ⅱ期8例,Ⅲ期17例,Ⅳ期4例.手术方式:经鼻内镜2例,经腭入路2例,经上颌窦面中部翻揭入路19例,经鼻侧切开9例,颅内外联合进路3例.结果 NA在鼻腔鼻窦有鳞状或柱状上皮被覆;伸入到翼腭窝、颞下窝等处则有纤维性假包膜覆盖.NA主要原发于鼻腔后部的外侧壁,本组35例中有15例在蝶腭孔附近.蒂部粗而密的血管是术中出血的主要部位.31例全部切除,4例未全切除.6例术前曾有视力受损,4例术后好转.3例术后有干眼并发症.结论 NA表面均有上皮或假包膜覆盖,并不浸润周围组织,紧靠肿瘤表面分离可减少术中出血,而又利于肿瘤切除.根据NA的实际大小及影像检查的评估,采用不同的进路手术,尽量使颜面外观保持正常,同时注意视力受损和干眼症等并发症.%Objective To study the pathological features of nasopharyngeal angiofibroma (NA) and the principles for clinical managements. Methods Thirty-five patients with NAs were treated in First Affiliated Hospital of Fujian Medical University from Oct. 1981 to May 2007. The pathological changes, sites of origin, causes of intraoperative bleeding and the experiences of managements were retrospectively analysed. Using Fish stnge:6 cases were in stage Ⅰ ,8 cases were in stage Ⅱ,17 cases were in stage Ⅲ, 4 cases were stage Ⅳ. Two cases via endoscopic surgery,2 cases via palatal approach,19 cases via midfacial degloving approach, 9 cases via lateral rhinotomy approach, 3 cases via craniofacial combined approach. Results In nasal cavity and paranasal sinus, the tumor was covered by squamous

  17. Autoimmune muscular pathologies.

    Science.gov (United States)

    Dalakas, M C

    2005-05-01

    The T cell-mediated mechanism responsible for Polymyositis and inclusion Body Myositis and the complement-mediated microangiopathy associated with Dermatomyositis are reviewed. The management of autoimmune myopathies with the presently available immunotherapeutic agents as well as new therapies and ongoing trials are discussed.

  18. Unexpected cellular players in Rett syndrome pathology.

    Science.gov (United States)

    Cronk, James C; Derecki, Noel C; Litvak, Vladimir; Kipnis, Jonathan

    2016-08-01

    Rett syndrome is a devastating neurodevelopmental disorder, primarily caused by mutations of methyl CpG-binding protein 2 (MeCP2). Although the genetic cause of disease was identified over a decade ago, a significant gap still remains in both our clinical and scientific understanding of its pathogenesis. Neurons are known to be primary players in pathology, with their dysfunction being the key in Rett syndrome. While studies in mice have demonstrated a clear causative - and potential therapeutic - role for neurons in Rett syndrome, recent work has suggested that other tissues also contribute significantly to progression of the disease. Indeed, Rett syndrome is known to present with several common peripheral pathologies, such as osteopenia, scoliosis, gastrointestinal problems including nutritional defects, and general growth deficit. Mouse models assessing the potential role of non-neuronal cell types have confirmed both roles in disease and potential therapeutic targets. A new picture is emerging in which neurons both initiate and drive pathology, while dysfunction of other cell types and peripheral tissues exacerbate disease, possibly amplifying further neurologic problems, and ultimately result in a positive feedback loop of progressively worsening symptoms. Here, we review what is known about neuronal and non-neuronal cell types, and discuss how this new, integrative understanding of the disease may allow for additional clinical and scientific pathways for treating and understanding Rett syndrome.

  19. [Diagnostic significance of pathologic synkinesis for detection of pyramidal pathology].

    Science.gov (United States)

    Baliasnyĭ, M M

    1991-01-01

    Five types of pathological synkinesis (++blepharo-ocular, ++blepharo-facial, ++bucco-manual, ++digito-digital on the hands, ++pedo-digital) are described. They are of definite importance for revealing pyramidal pathology including its early stages as well as for objective evaluation and observation of the time-course of changes in the illness.

  20. Something Old, Something New: Using Family History and Genetic Testing to Diagnose and Manage Athletes with Inherited Cardiovascular Disease.

    Science.gov (United States)

    Thomas, Matthew J; Battle, Robert W

    2015-07-01

    A primary objective of the preparticipation physical examination is to identify athletes at increased risk for sudden cardiac arrest (SCA). Review of an athlete's family history may identify those at risk for SCA. Genetic testing for inherited cardiovascular disease has emerged as a valuable addition to the repertoire of cardiologists facing the decision of clearing athletes with concerning clinical signs and/or family histories. Genetic testing may lead to various outcomes for an athlete including: reassurance, diagnosis in those with borderline clinical features, finding disease predisposition prior to the onset of clinical signs (ie, genotype-positive/phenotype-negative), or continued uncertainty. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Guidelines for resident training in veterinary clinical pathology. III: cytopathology and surgical pathology.

    Science.gov (United States)

    Kidney, Beverly A; Dial, Sharon M; Christopher, Mary M

    2009-09-01

    The Education Committee of the American Society for Veterinary Clinical Pathology has identified a need for improved structure and guidance of training residents in clinical pathology. This article is the third in a series of articles that address this need. The goals of this article are to describe learning objectives and competencies in knowledge, abilities, and skills in cytopathology and surgical pathology (CSP); provide options and ideas for training activities; and identify resources in veterinary CSP for faculty, training program coordinators, and residents. Guidelines were developed in consultation with Education Committee members and peer experts and with evaluation of the literature. The primary objectives of training in CSP are: (1) to develop a thorough, extensive, and relevant knowledge base of biomedical and clinical sciences applicable to the practice of CSP in domestic animals, laboratory animals, and other nondomestic animal species; (2) to be able to reason, think critically, investigate, use scientific evidence, and communicate effectively when making diagnoses and consulting and to improve and advance the practice of pathology; and (3) to acquire selected technical skills used in CSP and pathology laboratory management. These guidelines define expected competencies that will help ensure proficiency, leadership, and the advancement of knowledge in veterinary CSP and will provide a useful framework for didactic and clinical activities in resident-training programs.

  2. 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.

  3. 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.

  4. Molecular pathology of retinoblastoma

    Directory of Open Access Journals (Sweden)

    Kandalam Mallikarjuna

    2010-01-01

    Full Text Available Retinoblastoma (RB is an embryonic neoplasm of retinal origin. For many years, scientists have sought the fundamental origins of tumorigenesis, with the ultimate hope of discovering a cure. Indeed, these efforts have led to a significant understanding that multiple molecular and genetic aberrations, such as uncontrolled proliferation and the inhibition of apoptosis that contribute to the canonical characteristics of tumor biology. Despite these advances, a thorough understanding, such as the precise cells, which are the targets of neoplastic transformation, especially in solid tumors, is currently lacking. The focus of this review is to emphasize the molecular defects involved in the RB tumor progression and mechanisms associated with inhibition of tumor cell apoptotic processes. This review also discusses the importance of target molecules characterization and their potential therapeutic or prognostic use in RB disease.

  5. A case of pathological gambling--its features and mangement.

    Science.gov (United States)

    Lim, K D

    2001-05-01

    Pathological gambling (PG) represents the end spectrum of gambling behaviours. It is characterised by constantly recurring gambling behaviour which is maladaptive. This case illustrates how an Asian woman pathological gambler progresses through the different stages of development of the gambling habit, and how a multi-modal treatment approach has helped her regain psychosocial function. In addition, the maintenance factors, typical and atypical associated features, and difficulties in the management of such a case are highlighted.

  6. 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.

  7. 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...

  8. Integrating policies for the management of animal genetic resources with demand for livestock products and environmental sustainability

    Science.gov (United States)

    Recognition of the need to conserve animal genetic resources comes at a time when the global livestock sector faces significant challenges in meeting the growing demand for livestock products and the mitigation of negative environmental impacts caused by livestock. Outside of the U.S. it would seem ...

  9. The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management

    Science.gov (United States)

    Hoyle, J Chad; Isfort, Michael C; Roggenbuck, Jennifer; Arnold, W David

    2015-01-01

    Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus. Other forms of hereditary neuropathy, including sensory predominant or motor predominant forms, are sometimes included in the general classification of CMT, but for the purpose of this review, we will focus primarily on the forms associated with both sensory and motor deficits. CMT has a great deal of genetic heterogeneity, leading to diagnostic considerations that are still rapidly evolving for this disorder. Clinical features, inheritance pattern, gene mutation frequencies, and electrodiagnostic features all are helpful in formulating targeted testing algorithms in practical clinical settings, but these still have shortcomings. Next-generation sequencing (NGS), combined with multigene testing panels, is increasing the sensitivity and efficiency of genetic testing and is quickly overtaking targeted testing strategies. Currently, multigene panel testing and NGS can be considered first-line in many circumstances, although obtaining initial targeted testing for the PMP22 duplication in CMT patients with demyelinating conduction velocities is still a reasonable strategy. As technology improves and cost continues to fall, targeted testing will be completely replaced by multigene NGS panels that can detect the full spectrum of CMT mutations. Nevertheless, clinical acumen is still necessary given the variants of uncertain significance encountered with NGS. Despite the current limitations, the genetic diagnosis of CMT is critical for accurate prognostication, genetic counseling, and in the future, specific targeted therapies. Although whole exome and whole genome sequencing strategies have the power to further elucidate the genetics of CMT, continued technological advances are needed. PMID:26527893

  10. Sensor Management Algorithm Based on Matrix Genetic Algorithm%基于矩阵遗传的传感器管理算法

    Institute of Scientific and Technical Information of China (English)

    徐瑞阳; 冯新喜

    2016-01-01

    To solve the combinatorial explosion problem during sensor assignment, a sensor management algorithm based on matrix genetic algorithm is proposed.The algorithm adopts assignment matrix as individual of the species and the elements in the matrix as genetics.Simulation results show that this sensor management algorithm perform well in solving the combinatorial problem and can achieve a good performance in multi-sensor multi-target tracking.%针对传感器分配过程中出现的组合爆炸问题,以传感器管理中的分配矩阵作为种群中的个体,分配矩阵中的元素作为基因进行遗传,提出了一种基于矩阵遗传的传感器管理算法. 仿真结果表明,采用矩阵遗传的传感器管理算法可以较好地解决传感器分配中的组合爆炸问题,可以使多传感器多目标跟踪取得较好的效果.

  11. Odor familiarity and female preferences for males in a threatened primate, the pygmy loris Nycticebus pygmaeus: applications for genetic management of small populations.

    Science.gov (United States)

    Fisher, Heidi S; Swaisgood, R R; Fitch-Snyder, H

    2003-11-01

    Here we use sexual selection theory to develop a logistically simple, yet effective, method for the manipulation of female reproductive behavior for conservation goals. Mate choice leading to nonrandom mating patterns can exacerbate the loss of genetic diversity in small populations. On theoretical grounds, females should choose high-quality mates. A prediction stemming from chemical communication theory is that competitive males will be better able to saturate an area with scent marks. If this is true, females should mate preferentially with males whose odors they encounter most frequently. We tested this hypothesis with the pygmy loris, Nycticebus pygmaeus, a threatened and poorly studied nocturnal prosimian. For several weeks females were exposed repeatedly to the urine from a particular male, and were then allowed to choose between a male whose odors were familiar and one whose odors were novel. Females showed an unusually strong preference for the familiar-odor male, as indicated by several behavioral measures of mate preference. Conservation managers can use this method as a tool to obtain reproductive pairings that will maximize genetic compatibility and diversity. For example, unsuccessful males may be given the opportunity to reproduce. In captive populations, studbook managers often select pairs in order to optimize outbreeding, but these selected pairings may not coincide with the preferences of the individual animals involved. Although several authors have made theoretical arguments for manipulating mate choice for conservation, this is a novel test of a proximate mechanism that can be manipulated, cultivating applications rather than mere implications.

  12. Genetic Discrimination

    Science.gov (United States)

    ... in Genetics Archive Regulation of Genetic Tests Genetic Discrimination Overview Many Americans fear that participating in research ... I) and employment (Title II). Read more Genetic Discrimination and Other Laws Genetic Discrimination and Other Laws ...

  13. Genetic engineering, medicine and medical genetics.

    Science.gov (United States)

    Motulsky, A G

    1984-01-01

    The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.

  14. 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.

  15. Use of contextual inquiry to understand anatomic pathology workflow: Implications for digital pathology adoption

    Directory of Open Access Journals (Sweden)

    Jonhan Ho

    2012-01-01

    Full Text Available Background: For decades anatomic pathology (AP workflow have been a highly manual process based on the use of an optical microscope and glass slides. Recent innovations in scanning and digitizing of entire glass slides are accelerating a move toward widespread adoption and implementation of a workflow based on digital slides and their supporting information management software. To support the design of digital pathology systems and ensure their adoption into pathology practice, the needs of the main users within the AP workflow, the pathologists, should be identified. Contextual inquiry is a qualitative, user-centered, social method designed to identify and understand users′ needs and is utilized for collecting, interpreting, and aggregating in-detail aspects of work. Objective: Contextual inquiry was utilized to document current AP workflow, identify processes that may benefit from the introduction of digital pathology systems, and establish design requirements for digital pathology systems that will meet pathologists′ needs. Materials and Methods: Pathologists were observed and interviewed at a large academic medical center according to contextual inquiry guidelines established by Holtzblatt et al. 1998. Notes representing user-provided data were documented during observation sessions. An affinity diagram, a hierarchal organization of the notes based on common themes in the data, was created. Five graphical models were developed to help visualize the data including sequence, flow, artifact, physical, and cultural models. Results: A total of six pathologists were observed by a team of two researchers. A total of 254 affinity notes were documented and organized using a system based on topical hierarchy, including 75 third-level, 24 second-level, and five main-level categories, including technology, communication, synthesis/preparation, organization, and workflow. Current AP workflow was labor intensive and lacked scalability. A large number

  16. The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management

    Directory of Open Access Journals (Sweden)

    Hoyle JC

    2015-10-01

    Full Text Available J Chad Hoyle,1 Michael C Isfort,1 Jennifer Roggenbuck,1,2 W David Arnold1,3,4 1Department of Neurology, Division of Neuromuscular Disorders, 2Department of Internal Medicine, Division of Human Genetics, 3Department of Physical Medicine and Rehabilitation, 4Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH, USA Abstract: Charcot–Marie–Tooth (CMT disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus. Other forms of hereditary neuropathy, including sensory predominant or motor predominant forms, are sometimes included in the general classification of CMT, but for the purpose of this review, we will focus primarily on the forms associated with both sensory and motor deficits. CMT has a great deal of genetic heterogeneity, leading to diagnostic considerations that are still rapidly evolving for this disorder. Clinical features, inheritance pattern, gene mutation frequencies, and electrodiagnostic features all are helpful in formulating targeted testing algorithms in practical clinical settings, but these still have shortcomings. Next-generation sequencing (NGS, combined with multigene testing panels, is increasing the sensitivity and efficiency of genetic testing and is quickly overtaking targeted testing strategies. Currently, multigene panel testing and NGS can be considered first-line in many circumstances, although obtaining initial targeted testing for the PMP22 duplication in CMT patients with demyelinating conduction velocities is still a reasonable strategy. As technology improves and cost continues to fall, targeted testing will be completely replaced by multigene NGS panels that can detect the full spectrum of CMT mutations. Nevertheless, clinical acumen is still necessary given the variants of uncertain significance encountered with NGS. Despite the current limitations

  17. 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.

  18. [Copper pathology (author's transl)].

    Science.gov (United States)

    Mallet, B; Romette, J; Di Costanzo, J D

    1982-01-30

    Copper is an essential dietary component, being the coenzyme of many enzymes with oxidase activity, e.g. ceruloplasmin, superoxide dismutase, monoamine oxidase, etc. The metabolism of copper is complex and imperfectly known. Active transport of copper through the intestinal epithelial cells involves metallothionein, a protein rich in sulfhydryl groups which also binds the copper in excess and probably prevents absorption in toxic amounts. In hepatocytes a metallothionein facilitates absorption by a similar mechanism and regulates copper distribution in the liver: incorporation in an apoceruloplasmin, storage and synthesis of copper-dependent enzymes. Metallothioneins and ceruloplasmin are essential to adequate copper homeostasis. Apart from genetic disorders, diseases involving copper usually result from hypercupraemia of varied origin. Wilson's disease and Menkes' disease, although clinically and pathogenetically different, are both marked by low ceruloplasmin and copper serum levels. The excessive liver retention of copper in Wilson's disease might be due to increased avidity of hepatic metallothioneins for copper and decreased biliary excretion through lysosomal dysfunction. Menkes' disease might be due to low avidity of intestinal and hepatic metallothioneins for copper. The basic biochemical defect responsible for these two hereditary conditions has not yet been fully elucidated.

  19. Genetics Home Reference: mucopolysaccharidosis type IV

    Science.gov (United States)

    ... Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects ... Management Genetic Testing (3 links) Genetic Testing Registry: Morquio syndrome Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A ...

  20. Genetics Home Reference: Klippel-Trenaunay syndrome

    Science.gov (United States)

    ... age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily. Klippel-Trenaunay ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Klippel ...

  1. Genetics Home Reference: Langerhans cell histiocytosis

    Science.gov (United States)

    ... also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Langerhans ...

  2. Genetics Home Reference: Muckle-Wells syndrome

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness General Information from MedlinePlus ( ...

  3. Primer on genetic counseling.

    Science.gov (United States)

    Hahn, Susan Estabrooks

    2011-04-01

    Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

  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

    2015-01-01

    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. PMID:26308050

  5. 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...

  6. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

    Science.gov (United States)

    Tominaga, Kayo; Hayashi, Yukiko K; Goto, Kanako; Minami, Narihiro; Noguchi, Satoru; Nonaka, Ikuya; Miki, Tetsuro; Nishino, Ichizo

    2010-04-01

    Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.

  7. Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case%一例肢带型肌营养不良2G亚型患者的临床、病理及基因分析

    Institute of Scientific and Technical Information of China (English)

    汪伟; 郝莹; 汪仁斌; 金淼; 焦劲松

    2014-01-01

    Objective To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).Methods Clinical data of the patient was analyzed.Exons of the TCAP gene were amplified and sequenced.Results The patient has presented clinically as LGMD and pathologically as vacuolar myopathy.Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC,c.166insG).Conclusion LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity.Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.%目的 探讨1例肢带型肌营养不良2G亚型(limb-girdle muscular dystrophy type 2G,LGMD 2G)患者的临床、病理特点及基因突变情况.方法 对1例LGMD 2G患者进行临床资料收集及骨骼肌病理检查,PCR扩增患者TCAP基因的全部外显子,通过直接测序检测突变情况,并结合文献进行总结.结果 该患者临床表现符合肢带型肌营养不良,骨骼肌病理可见镶边空泡肌纤维,基因检测发现LGMD 2G致病基因TCAP基因存在复合杂合突变(c.100delC,c.166insG).结论 LGMD 2G的诊断需综合患者临床、病理分析,但最终确诊需结合基因诊断.

  8. 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.

  9. Genetics Home Reference: Chanarin-Dorfman syndrome

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Triglyceride storage disease with ichthyosis Other Diagnosis and Management Resources (1 ... storage disease neutral lipid storage disease with ichthyosis Triglyceride ... disease with ichthyosis triglyceride storage disease with impaired long- ...

  10. Clinical pathology services: remapping our strategic itinerary.

    Science.gov (United States)

    Blanckaert, Norbert

    2010-07-01

    Both technological advances and economic drivers have led to major changes in clinical laboratories across the world, with vastly improved testing productivity. However, the production process capability advances have far outpaced the clinical pathologists' success in assuring optimal test utilization and interpretation. While productivity of 'commodity' testing increases, our healthcare value productivity decreases. Such developments constitute a serious threat to our clinical pathology specialty, not only because pathologists may lose direct control of the commodity testing production activities, but also because the present evolution exposes a failure of our core clinical activities, the pathologist's knowledge processes that translate 'commodity' results into medical outcomes optimization. At a time when a revolution in health care organization is inescapable in the years ahead, clinical pathology must proceed from a merely reactive strategy (to fulfill the 'more with less' demands) to a proactive strategy where we build excellence and visibility in knowledge services on a strong foothold of operational excellence. Based on a Strengths-Weaknesses-Opportunities-Threats analysis, we argue that clinical pathology should safeguard and expand its healthcare value productivity by assuming leadership in building integrated laboratory services networks. We also suggest that the core knowledge processes deserve a system approach, for example, by applying a risk-based quality management system.

  11. Optical and digital microscopic imaging techniques and applications in pathology.

    Science.gov (United States)

    Chen, Xiaodong; Zheng, Bin; Liu, Hong

    2011-01-01

    The conventional optical microscope has been the primary tool in assisting pathological examinations. The modern digital pathology combines the power of microscopy, electronic detection, and computerized analysis. It enables cellular-, molecular-, and genetic-imaging at high efficiency and accuracy to facilitate clinical screening and diagnosis. This paper first reviews the fundamental concepts of microscopic imaging and introduces the technical features and associated clinical applications of optical microscopes, electron microscopes, scanning tunnel microscopes, and fluorescence microscopes. The interface of microscopy with digital image acquisition methods is discussed. The recent developments and future perspectives of contemporary microscopic imaging techniques such as three-dimensional and in vivo imaging are analyzed for their clinical potentials.

  12. A core curriculum for clinical fellowship training in pathology informatics.

    Science.gov (United States)

    McClintock, David S; Levy, Bruce P; Lane, William J; Lee, Roy E; Baron, Jason M; Klepeis, Veronica E; Onozato, Maristela L; Kim, Jiyeon; Dighe, Anand S; Beckwith, Bruce A; Kuo, Frank; Black-Schaffer, Stephen; Gilbertson, John R

    2012-01-01

    In 2007, our healthcare system established a clinical fellowship program in Pathology Informatics. In 2010 a core didactic course was implemented to supplement the fellowship research and operational rotations. In 2011, the course was enhanced by a formal, structured core curriculum and reading list. We present and discuss our rationale and development process for the Core Curriculum and the role it plays in our Pathology Informatics Fellowship Training Program. The Core Curriculum for Pathology Informatics was developed, and is maintained, through the combined efforts of our Pathology Informatics Fellows and Faculty. The curriculum was created with a three-tiered structure, consisting of divisions, topics, and subtopics. Primary (required) and suggested readings were selected for each subtopic in the curriculum and incorporated into a curated reading list, which is reviewed and maintained on a regular basis. Our Core Curriculum is composed of four major divisions, 22 topics, and 92 subtopics that cover the wide breadth of Pathology Informatics. The four major divisions include: (1) Information Fundamentals, (2) Information Systems, (3) Workflow and Process, and (4) Governance and Management. A detailed, comprehensive reading list for the curriculum is presented in the Appendix to the manuscript and contains 570 total readings (current as of March 2012). The adoption of a formal, core curriculum in a Pathology Informatics fellowship has significant impacts on both fellowship training and the general field of Pathology Informatics itself. For a fellowship, a core curriculum defines a basic, common scope of knowledge that the fellowship expects all of its graduates will know, while at the same time enhancing and broadening the traditional fellowship experience of research and operational rotations. For the field of Pathology Informatics itself, a core curriculum defines to the outside world, including departments, companies, and health systems considering hiring a

  13. MLE's bias pathology motivates MCMLE

    OpenAIRE

    Yatracos, Yannis G.

    2013-01-01

    Maximum likelihood estimates are often biased. It is shown that this pathology is inherent to the traditional ML estimation method for two or more parameters, thus motivating from a different angle the use of MCMLE.

  14. Systemic disorders affecting dental pathology

    Directory of Open Access Journals (Sweden)

    Knežević Milan R

    2014-12-01

    Full Text Available A retrospective overview of systemic disorders which might be associated with dental pathology is made. They are grouped as follows: (a congenital dental developmental disorders, (b chromosomal anomalies, (c radiations, (d immune disorders, (e intoxications, (f neurological alterations, (g gastrointestinal diseases, (h osteodystrophy and associated conditions, (i skin diseases, (j metabolic and endocrine disorders, (k craniofacial malformation syndromes and other congenital general malformations. The associated dental pathology is described in each case.

  15. [Methods and methodology of pathology].

    Science.gov (United States)

    Lushnikov, E F

    2016-01-01

    The lecture gives the state-of-the-art of the methodology of human pathology that is an area of the scientific and practice activity of specialists to produce and systematize objective knowledge of pathology and to use the knowledge in clinical medicine. It considers the objects and subjects of an investigation, materials and methods of a pathologist, and the results of his/her work.

  16. Development of pathology in Turkey

    Directory of Open Access Journals (Sweden)

    Gökhan GEDİKOĞLU

    2007-05-01

    Full Text Available Autospy is an important tool for the development of pathology as a science. In western civilisation dissection of human body became widespread with Renaissance, in contrast in the Ottoman Empire first dissection was not performed until the 19th century. Mustafa Behçet Efendi, head physician of the Empire, was one of the Ottoman physician who suggested the importance of dissection in the medical education. The first dissection was however performed by Charles Ambroise Bernard, a foreign physician who had been invited to help establishing a new medical school; “Mekteb-i Tıbbiye-i Adliye-i Şâhâne”, in 1843. The first modern medical schools called “Tıphane” and “Cerrahhane-i Amire” which were founded in 1827, did not have pathology courses. Pathology courses began in “Mekteb-i Tıbbiye-i Adliyei Şâhâne”. Dr. Hamdi Suat (Aknar, educated in anatomic pathology in Germany, was the first pathologist who established the modern pathology in Turkey in “İstanbul Darülfünun” medical school. In 1933 “Darülfünün” was closed and İstanbul University was built and the “University Reform Commission” invited many scientists escaping from Nazi government to study in İstanbul University. Dr. Philipp Schwartz had an important role both in the invitation of these scientists and establishment of the pathology department in İstanbul University. Practical courses were increased, clinicopathologic courses were organized for the first time and a lot of autopsies were performed, as high as 1000 autopsy per year, by Dr. Philipp Schwartz. More progress has takes place in Turkey over the years since pathology was first established. Today Turkey has many pathology departments which keep up with the worldwide advances in the field.

  17. Genetics Home Reference: tyrosinemia

    Science.gov (United States)

    ... 16,000 individuals. In the Saguenay-Lac St. Jean region of Quebec, tyrosinemia type I affects 1 ... detected via neonatal screening: management and outcome. Mol Genet Metab. 2012 Nov;107(3):605-7. doi: ...

  18. 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...

  19. 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.

  20. 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.

  1. Ancestry and pathology in King Tutankhamun's family.

    Science.gov (United States)

    Hawass, Zahi; Gad, Yehia Z; Ismail, Somaia; Khairat, Rabab; Fathalla, Dina; Hasan, Naglaa; Ahmed, Amal; Elleithy, Hisham; Ball, Markus; Gaballah, Fawzi; Wasef, Sally; Fateen, Mohamed; Amer, Hany; Gostner, Paul; Selim, Ashraf; Zink, Albert; Pusch, Carsten M

    2010-02-17

    The New Kingdom in ancient Egypt, comprising the 18th, 19th, and 20th dynasties, spanned the mid-16th to the early 11th centuries bc. The late 18th dynasty, which included the reigns of pharaohs Akhenaten and Tutankhamun, was an extraordinary time. The identification of a number of royal mummies from this era, the exact relationships between some members of the royal family, and possible illnesses and causes of death have been matters of debate. To introduce a new approach to molecular and medical Egyptology, to determine familial relationships among 11 royal mummies of the New Kingdom, and to search for pathological features attributable to possible murder, consanguinity, inherited disorders, and infectious diseases. From September 2007 to October 2009, royal mummies underwent detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. Mummies distinct from Tutankhamun's immediate lineage served as the genetic and morphological reference. To authenticate DNA results, analytical steps were repeated and independently replicated in a second ancient DNA laboratory staffed by a separate group of personnel. Eleven royal mummies dating from circa 1410-1324 bc and suspected of being kindred of Tutankhamun and 5 royal mummies dating to an earlier period, circa 1550-1479 bc, were examined. Microsatellite-based haplotypes in the mummies, generational segregation of alleles within possible pedigree variants, and correlation of identified diseases with individual age, archeological evidence, and the written historical record. Genetic fingerprinting allowed the construction of a 5-generation pedigree of Tutankhamun's immediate lineage. The KV55 mummy and KV35YL were identified as the parents of Tutankhamun. No signs of gynecomastia and craniosynostoses (eg, Antley-Bixler syndrome) or Marfan syndrome were found, but an accumulation of malformations in Tutankhamun's family was evident. Several pathologies including Köhler disease

  2. Genetic mixed-stock analysis of lake-run brown trout Salmo trutta fishery catches in the Inari Basin, northern Finland: implications for conservation and management.

    Science.gov (United States)

    Swatdipong, A; Vasemägi, A; Niva, T; Koljonen, M-L; Primmer, C R

    2013-09-01

    Genetic mixed-stock analysis (MSA) of wild lake-run brown trout Salmo trutta fishery catches (n = 665) from the Inari Basin (northern Finland) between 2006 and 2008 was carried out using a previously characterized baseline with 30 populations (n = 813) and 13 microsatellite loci. Altogether, 12 populations contributed significantly to mixed-stock fisheries, with the Ivalojoki system being the major contributor (70%) to the total catch. When catches were analysed regionally, geographically nearby populations were the main contributors to the local catches, indicating that a large proportion of S. trutta occupy lacustrine areas near the natal river mouth rather than dispersing throughout the lake. Similarly, far upstream populations contributed insignificantly to catches. These findings have important implications for the conservation and sustainable fishery management of the Inari system.

  3. Peripartum cardiomyopathy: current management and future perspectives

    Science.gov (United States)

    Hilfiker-Kleiner, Denise; Haghikia, Arash; Nonhoff, Justus; Bauersachs, Johann

    2015-01-01

    Pregnancy is associated with marked physiological changes challenging the cardiovascular system. Among the more severe pregnancy associated cardiovascular complications, peripartum cardiomyopathy (PPCM) is a potentially life-threatening heart disease emerging towards the end of pregnancy or in the first postpartal months in previously healthy women. A major challenge is to distinguish the peripartum discomforts in healthy women (fatigue, shortness of breath, and oedema) from the pathological symptoms of PPCM. Moreover, pregnancy-related pathologies such as preeclampsia, myocarditis, or underlying genetic disease show overlapping symptoms with PPCM. Difficulties in diagnosis and the discrimination from other pathological conditions in pregnancy may explain why PPCM is still underestimated. Additionally, underlying pathophysiologies are poorly understood, biomarkers are scarce and treatment options in general limited. Experience in long-term prognosis and management including subsequent pregnancies is just beginning to emerge. This review focuses on novel aspects of physiological and pathophysiological changes of the maternal cardiovascular system by comparing normal conditions, hypertensive complications, genetic aspects, and infectious disease in PPCM-pregnancies. It also presents clinical and basic science data on the current state of knowledge on PPCM and brings them in context thereby highlighting promising new insights in diagnostic tools and therapeutic approaches and management. PMID:25636745

  4. Performance of a Genetically Modified Strain of the Mediterranean Fruit Fly (Diptera: Tephritidae) for Area-Wide Integrated Pest Management With the Sterile Insect Technique.

    Science.gov (United States)

    Ramírez-Santos, Edwin M; Rendón, Pedro; Ruiz-Montoya, Lorena; Toledo, Jorge; Liedo, Pablo

    2016-12-23

    The genetically modified strain of Ceratitis capitata (Wiedemann) VIENNA 8 1260 has two morphological markers that exhibit fluorescence in body and sperm. To assess the feasibility of its use in area-wide integrated pest management (AW-IPM) programs using the sterile insect technique, its rearing performance and quality control profile under small, medium, and large scales was evaluated, as well as in field cages. The VIENNA 8 1260 strain had a lower yield than the control strains, VIENNA 8 with D53 inversion (VIENNA 8) and without D53 inversion (VIENNA 8 D53-). At mass-rearing scale, yield gradually increased in three generations without reaching the control strain values. The VIENNA 8 1260 strain was stable in the genetic sexing mechanism (>99.9%) and expression of fluorescence (100%). In field cages, the VIENNA 8 1260 males reduced the mating potential of wild males in the same magnitude as the VIENNA 8, when evaluated in independent cage tests. However, the relative sterility index and the strain male relative performance index of VIENNA 8 1260 males were significantly lower than those of the VIENNA 8. There were no significant differences in longevity of these strains. The potential application of the VIENNA 8 1260 in AW-IPM programs is further discussed.

  5. New Genetics

    Science.gov (United States)

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  6. Genetic craniofacial aberrations.

    Science.gov (United States)

    Pirinen, S

    1998-12-01

    Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

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

    OpenAIRE

    Huan Xia; Huaixin Chen; Zhongping Yang; Fei Lin; Bin Wang(Department of Physics and Astronomy, Shanghai Jiao Tong University, Shanghai 200240, China)

    2015-01-01

    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 sto...

  8. Molecular Genetics in Glaucoma

    OpenAIRE

    Liu, Yutao; Allingham, R Rand

    2011-01-01

    Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to gl...

  9. 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

    melanoma must be excluded. Mutations in KIT are frequently found, while BRAF and NRAS mutations are rarely found - except in conjunctival melanomas that carry BRAF mutations. Mutations in the TERT promotor region are also found in mucosal melanomas. Complete surgical resection with free margins......Mucosal melanomas constitute 1.3% of all melanomas and they may develop in any mucosal membrane. Conjunctival melanomas (0.5/million/year) and melanomas in the sinonasal cavity (0.5/million/year) are the most common, followed by anorectal melanomas (0.4/million/year) and melanomas in the oral...... 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...

  10. Mucosal malignant melanoma - a clinical, oncological, pathological and genetic survey.

    Science.gov (United States)

    Mikkelsen, Lauge H; Larsen, Ann-Cathrine; von Buchwald, Christian; Drzewiecki, Krzysztof T; Prause, Jan U; Heegaard, Steffen

    2016-06-01

    Mucosal melanomas constitute 1.3% of all melanomas and they may develop in any mucosal membrane. Conjunctival melanomas (0.5/million/year) and melanomas in the sinonasal cavity (0.5/million/year) are the most common, followed by anorectal melanomas (0.4/million/year) and melanomas in the oral 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 and conjunctival melanoma, which are very rare in Black people. The symptoms are not tumour-specific and are related to the organ system affected, and the disease is most often diagnosed at an advanced clinical stage. The diagnosis of a primary tumour is difficult, and metastatic cutaneous melanoma and choroidal melanoma must be excluded. Mutations in KIT are frequently found, while BRAF and NRAS mutations are rarely found - except in conjunctival melanomas that carry BRAF mutations. Mutations in the TERT promotor region are also found in mucosal melanomas. Complete surgical resection with free margins is the treatment of choice. The prognosis is poor, with the 5-year survival rate ranging from 0% (gastric melanoma) to 80% (conjunctival melanoma).

  11. Fellowship trends of pathology residents.

    Science.gov (United States)

    Lagwinski, Nikolaj; Hunt, Jennifer L

    2009-09-01

    Recent changes in pathology residency education have included a decrease in the program length (from 5 years to 4 years for combined anatomic and clinical pathology training) and a national mandate for programs to assess 6 general competencies of trainees. These have undoubtedly led to changes in program curricula and in residents' desires to seek fellowship training. This study was designed to gather information about what residents are seeking from fellowship training programs. This study used an online survey to assess attitudes of residents in training programs toward fellowship training. The survey instrument had 26 questions pertaining to fellowship choices, motivations for pursuing fellowships, expectations of the fellowships, and postresidency concerns. There were 213 respondents from a mix of program types and representing each postgraduate year. Most residents will seek at least 1 or 2 fellowships after residency training. The most popular first-choice fellowship was surgical pathology (26%), followed by cytopathology (16%), hematopathology (15%), gastrointestinal pathology (10%), dermatopathology (8%), and forensic pathology (5%). The most common reasons for pursuing fellowship training were to "increase marketability" (43%) or to "become an expert in a particular area" (33%). Most trainees got their information about fellowship training programs from Internet sources. Fellowship programs will benefit from an optimally designed Web site because residents seek information predominantly from the Internet. Residents seeking fellowships are particularly concerned with selecting programs that provide job connections, an increase in their marketability, and the opportunity to develop diagnostic expertise.

  12. 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.

  13. Resistance evolution to the first generation of genetically modified Diabrotica-active Bt-maize events by western corn rootworm: management and monitoring considerations.

    Science.gov (United States)

    Devos, Yann; Meihls, Lisa N; Kiss, József; Hibbard, Bruce E

    2013-04-01

    Western corn rootworm (Diabrotica virgifera virgifera; WCR) is a major coleopteran maize pest in North America and the EU, and has traditionally been managed through crop rotation and broad-spectrum soil insecticides. Genetically modified Bt-maize offers an additional management tool for WCR and has been valuable in reducing insecticide use and increasing farm income. A concern is that the widespread, repeated, and exclusive deployment of the same Bt-maize transformation event will result in the rapid evolution of resistance in WCR. This publication explores the potential of WCR to evolve resistance to plant-produced Bt-toxins from the first generation of Diabrotica-active Bt-maize events (MON 863 and MON 88017, DAS-59122-7 and MIR604), and whether currently implemented risk management strategies to delay and monitor resistance evolution are appropriate. In twelve of the twelve artificial selection experiments reported, resistant WCR populations were yielded rapidly. Field-selected resistance of WCR to Cry3Bb1 is documented in some US maize growing areas, where an increasing number of cases of unexpected damage of WCR larvae to Bt-maize MON 88017 has been reported. Currently implemented insect resistance management measures for Bt-crops usually rely on the high dose/refuge (HDR) strategy. Evidence (including laboratory, greenhouse and field data) indicates that several conditions contributing to the success of the HDR strategy may not be met for the first generation of Bt-maize events and WCR: (1) the Bt-toxins are expressed heterogeneously at a low-to-moderate dose in roots; (2) resistance alleles may be present at a higher frequency than initially assumed; (3) WCR may mate in a non-random manner; (4) resistance traits could have non-recessive inheritance; and (5) fitness costs may not necessarily be associated with resistance evolution. However, caution must be exercised when extrapolating laboratory and greenhouse results to field conditions. Model predictions

  14. 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,

  15. 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,

  16. 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,

  17. 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,

  18. [Pathological buying -- a literature review].

    Science.gov (United States)

    Müller, Astrid; Reinecker, Hans; Jacobi, Corinna; Reisch, Lucia; de Zwaan, Martina

    2005-01-01

    This review summarizes the literature on pathological buying published during the past 15 years. Pathological or compulsive buying is defined as frequent preoccupation with buying or impulses to buy that are experienced as irresistible, intrusive, and/or senseless. The buying behavior causes marked distress, interferes with social functioning, and often results in financial problems. Studies on the phenomenology, diagnosis, classification, comorbidity, epidemiology, and treatment are presented. Pathological buying should be diagnosed as impulse control disorder not otherwise specified (ICD-10 F63.9). Psychiatric comorbidity is frequent, particulary mood, anxiety, substance use, eating, impulse control and obsessive-compulsive disorders. The positive results of pharmacological treatment with antidepressants (usually SSRI) and opioid antagonists could not be confirmed in controlled trials. A disorder specific cognitive-behavioral group treatment manual was published in USA. A controlled study is currently conducted in USA and since 2003 at the Department of Psychosomatics and Psychotherapy at the University Hospital Erlangen.

  19. [Pathology of the vitreomacular interface].

    Science.gov (United States)

    Pop, Monica; Gheorghe, Alina

    2014-01-01

    Vitreous role in the pathophysiology of retinal diseases has increased importantly over the recent years. This was possible using Optical Coherence Tomography which reviewed the way the vitreoretinal interface should be looked at and defined and classified new pathologies such as Vitreoretinal Traction Syndrome. Vitreous is not an empty space but an important anatomical structure with role in ocular physiology. With age biochemical changes occur so that vitreous starts to liquefy. Once the vitreous is liquefied (sinchisis) it collapses and passes in the retrohialoid space (sineresis). In complete PVD besides sinchisis there is a weakness of the adherence between the posterior cortex and ILM with total detachment of posterior cortex. Abnormal adhesions are associated with incomplete PVD. The definition and understanting of vitreoretinal pathology is an active and continuous process, PVD being the trigger of a lot of retinal pathologies: epiretinal membrane, macular hole, tractional macular oedema, VMTS, myopic traction maculopathy, exacerbations of exudative ARMD.

  20. Incidence, etiopathogenesis and pathological aspects of genitourinary tuberculosis in India: A journey revisited

    Directory of Open Access Journals (Sweden)

    Prasenjit Das

    2008-01-01

    Full Text Available Background: Tuberculosis is one of the major health problems in India. Genitourinary tuberculosis comprises 20% of all extrapulmonary tuberculosis, and is the most common extrapulmonary system to be affected by this disease. The recent surge in the incidence of HIV-infected patients in India has further ignited the fury. Though the members of the Mycobacterium species are well identified, the incidence could not be controlled due to its complex etiopathogenesis and genetic background. Pathological Spectrum: The spectrum of pathological changes of genitourinary tuberculosis is wide, which varies from normal morphology to markedly scarred kidney, bladder, and epididymis with autocystectomy. A thorough knowledge is required to prevent the end-stage complications. The sequel can be detrimental for the patient′s physical, behavioral, psychological, and financial health. Diagnostic Dilemmas: Though culture and polymerase chain reaction are available for the detection of tuberculosis, the sensitivity and specificity varies widely and one should be aware. Conclusions: A thorough knowledge of epidemiology, immunopathogenesis, spectrum of the disease and the possible sequels, will help better and effective management of the disease.

  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. Pathology Imagebase - A Reference Image Database for Standardization of Pathology.

    Science.gov (United States)

    Egevad, Lars; Cheville, John; Evans, Andrew J; Hörnblad, Jonas; Kench, James G; Kristiansen, Glen; Leite, Katia R M; Magi-Galluzzi, Cristina; Pan, Chin-Chen; Samaratunga, Hemamali; Srigley, John R; True, Lawrence; Zhou, Ming; Clements, Mark; Delahunt, Brett

    2017-07-19

    Despite efforts to standardize histopathology practice through the development of guidelines, the interpretation of morphology is still hampered by subjectivity. We here describe Pathology Imagebase, a novel mechanism for establishing an international standard for the interpretation of pathology specimens. The International Society of Urological Pathology (ISUP) established a reference image database through the input of experts in the field. Three panels were formed, one each for prostate, urinary bladder and renal pathology, consisting of 24 international experts. Each of the panel members uploaded microphotographs of cases into a non-public database. The remaining 23 experts were asked to vote from a multiple-choice menu. Prior to and while voting panel members were unable to access the results of voting by the other experts. When a consensus level of at least 2/3 or 16 votes was reached, cases were automatically transferred to the main database. Consensus was reached in a total of 287 cases across five projects on the grading of prostate, bladder and renal cancer and classification of renal tumours and flat lesions of the bladder. The full database is available to all ISUP members at www.isupweb.org. Non-members may access a selected number of cases. It is anticipated that the database will assist pathologists in calibrating their grading and will also promote consistency in the diagnosis of difficult cases. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  3. Clinical and pathological features of pachyonychia congenita.

    Science.gov (United States)

    Leachman, Sancy A; Kaspar, Roger L; Fleckman, Philip; Florell, Scott R; Smith, Frances J D; McLean, W H Irwin; Lunny, Declan P; Milstone, Leonard M; van Steensel, Maurice A M; Munro, Colin S; O'Toole, Edel A; Celebi, Julide T; Kansky, Aleksej; Lane, E Birgitte

    2005-10-01

    Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC cases exhibit fingernail and toenail thickening, and painful plantar keratoderma. Prospective evaluation of 57 PC patients from 41 families revealed variable clinical findings: hyperhidrosis (79%), oral leukokeratosis (75%), follicular keratosis (65%), palmar keratoderma (60%), cutaneous cysts (35%), hoarseness or laryngeal involvement (16%), coarse or twisted hair (26%), early primary tooth loss (14%), and presence of natal or prenatal teeth (2%). Stratification of these data by keratin mutation confirmed the increased incidence of cyst formation and natal teeth among PC-2 patients, although cysts were more commonly seen in PC-1 than previously reported (25%-33%). Previously unreported clinical features of PC include development of painful oral and nipple lesions during breastfeeding, copious production of waxy material in ears, and inability to walk without an ambulatory aid (50%). Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed.

  4. 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...

  5. Optimal breast cancer pathology manifesto.

    Science.gov (United States)

    Tot, T; Viale, G; Rutgers, E; Bergsten-Nordström, E; Costa, A

    2015-11-01

    This manifesto was prepared by a European Breast Cancer (EBC) Council working group and launched at the European Breast Cancer Conference in Glasgow on 20 March 2014. It sets out optimal technical and organisational requirements for a breast cancer pathology service, in the light of concerns about variability and lack of patient-centred focus. It is not a guideline about how pathology services should be performed. It is a call for all in the cancer community--pathologists, oncologists, patient advocates, health administrators and policymakers--to check that services are available that serve the needs of patients in a high quality, timely way.

  6. Pathologies sociales de la communication

    OpenAIRE

    Durand, Pascal

    2009-01-01

    La communication, dans sa généralité et dans la perspective des travaux récents de l'Ecole de Francfort, est généralement pensée comme solution à diverses pathologies sociales (isolement, malentendus réciproques, aliénation, etc.). Le présent article l'envisage comme un vecteur de pathologies spécifiques : anomie, censure, propagande, production d'idéologèmes divers. Peer reviewed

  7. Tuning of Kalman Filter Parameters via Genetic Algorithm for State-of-Charge Estimation in Battery Management System

    Directory of Open Access Journals (Sweden)

    T. O. Ting

    2014-01-01

    Full Text Available In this work, a state-space battery model is derived mathematically to estimate the state-of-charge (SoC of a battery system. Subsequently, Kalman filter (KF is applied to predict the dynamical behavior of the battery model. Results show an accurate prediction as the accumulated error, in terms of root-mean-square (RMS, is a very small value. From this work, it is found that different sets of Q and R values (KF’s parameters can be applied for better performance and hence lower RMS error. This is the motivation for the application of a metaheuristic algorithm. Hence, the result is further improved by applying a genetic algorithm (GA to tune Q and R parameters of the KF. In an online application, a GA can be applied to obtain the optimal parameters of the KF before its application to a real plant (system. This simply means that the instantaneous response of the KF is not affected by the time consuming GA as this approach is applied only once to obtain the optimal parameters. The relevant workable MATLAB source codes are given in the appendix to ease future work and analysis in this area.

  8. Tuning of Kalman filter parameters via genetic algorithm for state-of-charge estimation in battery management system.

    Science.gov (United States)

    Ting, T O; Man, Ka Lok; Lim, Eng Gee; Leach, Mark

    2014-01-01

    In this work, a state-space battery model is derived mathematically to estimate the state-of-charge (SoC) of a battery system. Subsequently, Kalman filter (KF) is applied to predict the dynamical behavior of the battery model. Results show an accurate prediction as the accumulated error, in terms of root-mean-square (RMS), is a very small value. From this work, it is found that different sets of Q and R values (KF's parameters) can be applied for better performance and hence lower RMS error. This is the motivation for the application of a metaheuristic algorithm. Hence, the result is further improved by applying a genetic algorithm (GA) to tune Q and R parameters of the KF. In an online application, a GA can be applied to obtain the optimal parameters of the KF before its application to a real plant (system). This simply means that the instantaneous response of the KF is not affected by the time consuming GA as this approach is applied only once to obtain the optimal parameters. The relevant workable MATLAB source codes are given in the appendix to ease future work and analysis in this area.

  9. Integrating clinical and laboratory data in genetic studies of complex phenotypes: a network-based data management system.

    Science.gov (United States)

    McMahon, F J; Thomas, C J; Koskela, R J; Breschel, T S; Hightower, T C; Rohrer, N; Savino, C; McInnis, M G; Simpson, S G; DePaulo, J R

    1998-05-01

    The identification of genes underlying a complex phenotype can be a massive undertaking, and may require a much larger sample size than thought previously. The integration of such large volumes of clinical and laboratory data has become a major challenge. In this paper we describe a network-based data management system designed to address this challenge. Our system offers several advantages. Since the system uses commercial software, it obviates the acquisition, installation, and debugging of privately-available software, and is fully compatible with Windows and other commercial software. The system uses relational database architecture, which offers exceptional flexibility, facilitates complex data queries, and expedites extensive data quality control. The system is particularly designed to integrate clinical and laboratory data efficiently, producing summary reports, pedigrees, and exported files containing both phenotype and genotype data in a virtually unlimited range of formats. We describe a comprehensive system that manages clinical, DNA, cell line, and genotype data, but since the system is modular, researchers can set up only those elements which they need immediately, expanding later as needed.

  10. Use of "Journal of Citation Reports" for Serials Management in Research Libraries: An Investigation of the Effect of Self-Citation on Journal Rankings in Library and Information Science and Genetics.

    Science.gov (United States)

    Nisonger, Thomas E.

    2000-01-01

    Explores the use of "Journal Citation Reports" (JCR) for journal management in academic libraries. Outlines the advantages and disadvantages of using JCR citation data and researches the impact of journal self-citation on JCR rankings of library and information science and genetics journals. (Contains 41 references.) (Author/LRW)

  11. Use of "Journal of Citation Reports" for Serials Management in Research Libraries: An Investigation of the Effect of Self-Citation on Journal Rankings in Library and Information Science and Genetics.

    Science.gov (United States)

    Nisonger, Thomas E.

    2000-01-01

    Explores the use of "Journal Citation Reports" (JCR) for journal management in academic libraries. Outlines the advantages and disadvantages of using JCR citation data and researches the impact of journal self-citation on JCR rankings of library and information science and genetics journals. (Contains 41 references.) (Author/LRW)

  12. Scientific Opinion supplementing the conclusions of the environmental risk assessment and risk management recommendations for the cultivation of the genetically modified insect resistant maize Bt11 and MON 810

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-12-01

    Full Text Available The EFSA GMO Panel was asked by the European Commission to apply its mathematical model to simulate and assess potential adverse effects resulting from the exposure of non-target Lepidoptera to maize Bt11 or MON 810 pollen under hypothetical agricultural conditions, and to provide information on the factors affecting the insect resistance management plan, additional to that in its 2011 Statement supplementing the evaluation of the environmental risk assessment and risk management recommendations on insect resistant genetically modified maize Bt11 for cultivation. Here, risk managers are provided with additional evidence and further clarifications to those previous conclusions and risk management recommendations. This Scientific Opinion provides background scientific information to inform the decision-making process; the EFSA GMO Panel reiterates that risk managers should choose risk mitigation and management measures that are proportionate to the level of identified risk according to the protection goals pertaining to their regions.

  13. Population Structure, Genetic Diversity, Effective Population Size, Demographic History and Regional Connectivity Patterns of the Endangered Dusky Grouper, Epinephelus marginatus (Teleostei: Serranidae), within Malta’s Fisheries Management Zone

    Science.gov (United States)

    Vella, Adriana

    2016-01-01

    The objective of this study is to describe the genetic population structure and demographic history of the endangered marine fish, Epinephelus marginatus, within Malta’s Fisheries Management Zone for the purpose of localised conservation planning. Epinephelus marginatus is a long-lived, sedentary, reef-associated protogynous hermaphrodite with high commercial and recreational value that is at risk of extinction throughout its global distribution. Based on global trends, population substructuring and gaps in local knowledge this has led to an increased interest in evaluation of local stock. Assessment of Maltese demography was based on historical and contemporary catch landings data whilst genetic population structure and regional connectivity patterns were evaluated by examining 175 individuals collected within the central Mediterranean region between 2002 and 2009 using 14 nuclear microsatellite loci. Demographic stock assessment of Maltese E. marginatus’ revealed a 99% decline in catch landings between 1947 and 2009 within the Fisheries Management Zone. A contemporary modest mean size was observed, 3 ± 3 kg, where approximately 17% of the population was juvenile, 68% female/sex-changing and 15% were male with a male-to-female sex ratio of 1:5. Genetic analysis describes the overall population of E. marginatus’ within the Fisheries Management Zone as decreasing in size (ƟH = 2.2), which has gone through a significant size reduction in the past (M = 0.41) and consequently shows signs of moderate inbreeding (FIS = 0.10, p < 0.001) with an estimated effective population size of 130 individuals. Results of spatially explicit Bayesian genetic cluster analysis detected two geographically distinct subpopulations within Malta’s Fisheries Management Zone and that they are connected to a larger network of E. marginatus’ within the Sicily Channel. Results suggest conservation management should be designed to reflect E. marginatus’ within Malta’s Fisheries

  14. Mathematical Pathologies as Pathways into Creativity

    Science.gov (United States)

    Sriraman, Bharath; Dickman, Benjamin

    2017-01-01

    In this paper, the role of mathematical pathologies as a means of fostering creativity in the classroom is discussed. In particular, it delves into what constitutes a mathematical pathology, examines historical mathematical pathologies as well as pathologies in contemporary classrooms, and indicates how the Lakatosian heuristic can be used to…

  15. Forest Management

    Science.gov (United States)

    S. Hummel; K. L. O' Hara

    2008-01-01

    Global variation in forests and in human cultures means that a single method for managing forests is not possible. However, forest management everywhere shares some common principles because it is rooted in physical and biological sciences like chemistry and genetics. Ecological forest management is an approach that combines an understanding of universal processes with...

  16. Loss of Bin1 Promotes the Propagation of Tau Pathology

    Directory of Open Access Journals (Sweden)

    Sara Calafate

    2016-10-01

    Full Text Available Tau pathology propagates within synaptically connected neuronal circuits, but the underlying mechanisms are unclear. BIN1-amphiphysin2 is the second most prevalent genetic risk factor for late-onset Alzheimer’s disease. In diseased brains, the BIN1-amphiphysin2 neuronal isoform is downregulated. Here, we show that lowering BIN1-amphiphysin2 levels in neurons promotes Tau pathology propagation whereas overexpression of neuronal BIN1-amphiphysin2 inhibits the process in two in vitro models. Increased Tau propagation is caused by increased endocytosis, given our finding that BIN1-amphiphysin2 negatively regulates endocytic flux. Furthermore, blocking endocytosis by inhibiting dynamin also reduces Tau pathology propagation. Using a galectin-3-binding assay, we show that internalized Tau aggregates damage the endosomal membrane, allowing internalized aggregates to leak into the cytoplasm to propagate pathology. Our work indicates that lower BIN1 levels promote the propagation of Tau pathology by efficiently increasing aggregate internalization by endocytosis and endosomal trafficking.

  17. 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.

  18. 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

  19. Sunlight to hydrogen conversion: Design optimization and energy management of concentrated photovoltaic (CPV-Hydrogen) system using micro genetic algorithm

    KAUST Repository

    Burhan, Muhammad

    2016-02-14

    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. © 2016 Elsevier Ltd.

  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.