WorldWideScience

Sample records for extremely rare genetic

  1. Morphology, physiology, genetics, enigmas, and status of an extremely rare tree: Mutant tanoak

    Science.gov (United States)

    Philip M. McDonald; Jianwei Zhang; Randy S. Senock; Jessica W. Wright

    2013-01-01

    Important physical characteristics, morphological attributes, physiological functions, and genetic properties of mutant tanoak, Notholithocarpus densiflorus f. attenuato-dentatus (Fagaceae), and normal tanoak, Notholithocarpus densiflorus (Hook. & Arn.) Manos, Cannon & S. H. Oh, were studied on the Challenge...

  2. Landscape genetics reveals inbreeding and genetic bottlenecks in the extremely rare short-globose cacti Mammillaria pectinifera (Cactaceae as a result of habitat fragmentation

    Directory of Open Access Journals (Sweden)

    Reyna Maya-García

    2017-02-01

    Full Text Available Mammillaria pectinifera is an endemic, short-globose cactus species, included in the IUCN list as a threatened species with only 18 remaining populations in the Tehuacán-Cuicatlán Valley in central Mexico. We evaluated the population genetic diversity and structure, connectivity, recent bottlenecks and population size, using nuclear microsatellites. M. pectinifera showed high genetic diversity but some evidence of heterozygote deficiency (FIS, recent bottlenecks in some populations and reductions in population size. Also, we found low population genetic differentiation and high values of connectivity for M. pectinifera, as the result of historical events of gene flow through pollen and seed dispersal. M. pectinifera occurs in sites with some degree of disturbance leading to the isolation of its populations and decreasing the levels of gene flow among them. Excessive deforestation also changes the original vegetation damaging the natural habitats. This species will become extinct if it is not properly preserved. Furthermore, this species has some ecological features that make them more vulnerable to disturbance such as a very low growth rates and long life cycles. We suggest in situ conservation to prevent the decrease of population sizes and loss of genetic diversity in the natural protected areas such as the Tehuacán-Cuicatlán Biosphere Reserve. In addition, a long-term ex situ conservation program is need to construct seed banks, and optimize seed germination and plant establishment protocols that restore disturbed habitats. Furthermore, creating a supply of living plants for trade is critical to avoid further extraction of plants from nature.

  3. Genetic analysis of rare disorders

    DEFF Research Database (Denmark)

    van den Berg, Stéphanie M; von Bornemann Hjelmborg, Jacob

    2012-01-01

    Twin concordance rates provide insight into the possibility of a genetic background for a disease. These concordance rates are usually estimated within a frequentistic framework. Here we take a Bayesian approach. For rare diseases, estimation methods based on asymptotic theory cannot be applied due....... The Bayesian method is able to include prior information on both concordance rates and prevalence rates at the same time and is illustrated using twin data on cleft lip and rheumatoid arthritis....

  4. RARE DISEASES AND GENETIC DISCRIMINATION

    Directory of Open Access Journals (Sweden)

    Mariela Yaneva – Deliverska

    2011-04-01

    Full Text Available Rare diseases are characterised by their low prevalence (less than 1/2,000 and their heterogeneity. They affect both children and adults anywhere in the world. From the medical perspective, rare diseases are characterised by the large number and broad diversity of disorders and symptoms that vary not only from disease to disease, but also within the same disease.Main characteristics of rare diseases include:· Rare diseases are often chronic, progressive, degenerative, and often life-threatening· Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy· High level of pain and suffering for the patient and his/ her family · No existing effective cure· There are between 6000 and 8000 rare diseases· 75% of rare diseases affect children· 30% of rare disease patients die before the age of 5· 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral, allergies and environmental causes, or are degenerative and proliferative.Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies. The period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments. Living with a rare disease has implications in all areas of life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatisation, isolation, exclusion from social community, discrimination for insurance subscription (health insurance, travel insurance, mortgage, and often reduced professional opportunities.Innovative treatments are often unevenly available in the EU because of delays in price determination and/or reimbursement decision, lack of experience of the treating

  5. Genetic Analysis of Multiple Endocrine Neoplasia Type 1 ( Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1

    Directory of Open Access Journals (Sweden)

    Dong Min Lee

    2014-06-01

    Full Text Available BackgroundMultiple endocrine neoplasia type 1 (MEN1 is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands. MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above.MethodsA 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending into the sellar region. It was thought to be a nonfunctioning tumor from the results of the combined pituitary function test. Incidentally, we found that she also had a pancreatic tumor, indicating the necessity of genetic analysis for MEN1.ResultsGenomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A mutation in the MEN1 gene that was previously reported to be either a pathogenic mutation or a simple polymorphism. We pursued a stereotactic approach to the pituitary lesion, and microscopic findings of the tumor revealed it to be an intrasellar cavernous hemangioma, a rare finding in the sellar region and even rarer in relation to oculomotor palsy. The patient recovered well from surgery, but refused further evaluation for the pancreatic lesion.ConclusionThere is great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we report a case where it did not assist in diagnosis, hence, further discussion on the role of genetic testing in this disease is needed. Also, in cases of pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar cavernous hemangioma

  6. Papilliferous Keratoameloblastoma: An Extremely Rare Case Report

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    Neeta Mohanty

    2013-01-01

    Full Text Available Odontogenic tumors develop in the jaw bones from the odontogenic tissue-oral epithelium in tooth germ, enamel organ, dental papilla, reduced enamel epithelium, remnants of Hertwig’s root sheath or dental lamina, and so forth. Hence, a bewildering variety of tumors are encountered in the maxilla and mandible. Ameloblastoma is the second most common odontogenic neoplasm after odontomes, and it has numerous clinical and histologic variants. We report a very rare histologic variant: the papilliferous keratoameloblastoma which is the fifth reported case in the English literature.

  7. Laws of small numbers extremes and rare events

    CERN Document Server

    Falk, Michael; Hüsler, Jürg

    2004-01-01

    Since the publication of the first edition of this seminar book in 1994, the theory and applications of extremes and rare events have enjoyed an enormous and still increasing interest. The intention of the book is to give a mathematically oriented development of the theory of rare events underlying various applications. This characteristic of the book was strengthened in the second edition by incorporating various new results on about 130 additional pages. Part II, which has been added in the second edition, discusses recent developments in multivariate extreme value theory. Particularly notable is a new spectral decomposition of multivariate distributions in univariate ones which makes multivariate questions more accessible in theory and practice. One of the most innovative and fruitful topics during the last decades was the introduction of generalized Pareto distributions in the univariate extreme value theory. Such a statistical modelling of extremes is now systematically developed in the multivariate fram...

  8. Laws of small numbers extremes and rare events

    CERN Document Server

    Falk, Michael; Reiss, Rolf-Dieter

    2011-01-01

    Since the publication of the first edition of this seminar book in 1994, the theory and applications of extremes and rare events have enjoyed an enormous and still increasing interest. The intention of the book is to give a mathematically oriented development of the theory of rare events underlying various applications. This characteristic of the book was strengthened in the second edition by incorporating various new results. In this third edition, the dramatic change of focus of extreme value theory has been taken into account: from concentrating on maxima of observations it has shifted to l

  9. Genetic diversity among endangered rare Dalbergia ...

    African Journals Online (AJOL)

    Genetic diversity among endangered rare Dalbergia cochinchinensis (Fabaceae) genotypes in Vietnam revealed by random amplified polymorphic DNA (RAPD) ... The number of amplified fragments varied from 1 (OPR15, OPB05, RA142, OPR08, UBC348, OPE14 and OPO04) to 8 (OPP19) and their sizes ranged from 250 ...

  10. Rare endocrine cancers have novel genetic alterations

    Science.gov (United States)

    A molecular characterization of adrenocortical carcinoma, a rare cancer of the adrenal cortex, analyzed 91 cases for alterations in the tumor genomes and identified several novel genetic mutations as likely mechanisms driving the disease as well as whole genome doubling as a probable driver of the disease.

  11. Extreme Quantum Memory Advantage for Rare-Event Sampling

    Science.gov (United States)

    Aghamohammadi, Cina; Loomis, Samuel P.; Mahoney, John R.; Crutchfield, James P.

    2018-02-01

    We introduce a quantum algorithm for memory-efficient biased sampling of rare events generated by classical memoryful stochastic processes. Two efficiency metrics are used to compare quantum and classical resources for rare-event sampling. For a fixed stochastic process, the first is the classical-to-quantum ratio of required memory. We show for two example processes that there exists an infinite number of rare-event classes for which the memory ratio for sampling is larger than r , for any large real number r . Then, for a sequence of processes each labeled by an integer size N , we compare how the classical and quantum required memories scale with N . In this setting, since both memories can diverge as N →∞ , the efficiency metric tracks how fast they diverge. An extreme quantum memory advantage exists when the classical memory diverges in the limit N →∞ , but the quantum memory has a finite bound. We then show that finite-state Markov processes and spin chains exhibit memory advantage for sampling of almost all of their rare-event classes.

  12. Extreme Quantum Memory Advantage for Rare-Event Sampling

    Directory of Open Access Journals (Sweden)

    Cina Aghamohammadi

    2018-02-01

    Full Text Available We introduce a quantum algorithm for memory-efficient biased sampling of rare events generated by classical memoryful stochastic processes. Two efficiency metrics are used to compare quantum and classical resources for rare-event sampling. For a fixed stochastic process, the first is the classical-to-quantum ratio of required memory. We show for two example processes that there exists an infinite number of rare-event classes for which the memory ratio for sampling is larger than r, for any large real number r. Then, for a sequence of processes each labeled by an integer size N, we compare how the classical and quantum required memories scale with N. In this setting, since both memories can diverge as N→∞, the efficiency metric tracks how fast they diverge. An extreme quantum memory advantage exists when the classical memory diverges in the limit N→∞, but the quantum memory has a finite bound. We then show that finite-state Markov processes and spin chains exhibit memory advantage for sampling of almost all of their rare-event classes.

  13. Extreme magnetoresistance in magnetic rare-earth monopnictides

    Science.gov (United States)

    Ye, Linda; Suzuki, Takehito; Wicker, Christina R.; Checkelsky, Joseph G.

    2018-02-01

    The acute sensitivity of the electrical resistance of certain systems to magnetic fields known as extreme magnetoresistance (XMR) has recently been explored in a new materials context with topological semimetals. Exemplified by WTe2 and rare-earth monopnictide La(Sb,Bi), these systems tend to be nonmagnetic, nearly compensated semimetals and represent a platform for large magnetoresistance driven by intrinsic electronic structure. Here we explore electronic transport in magnetic members of the latter family of semimetals and find that XMR is strongly modulated by magnetic order. In particular, CeSb exhibits XMR in excess of 1.6 ×106% at fields of 9 T whereas the magnetoresistance itself is nonmonotonic across the various magnetic phases and shows a transition from negative magnetoresistance to XMR with fields above magnetic ordering temperature TN. The magnitude of the XMR is larger than in other rare-earth monopnictides including the nonmagnetic members and follows a nonsaturating power law to fields above 30 T. We show that the overall response can be understood as the modulation of conductivity by the Ce orbital state and for intermediate temperatures can be characterized by an effective medium model. Comparison to the orbitally quenched compound GdBi supports the correlation of XMR with the onset of magnetic ordering and compensation and highlights the unique combination of orbital inversion and type-I magnetic ordering in CeSb in determining its large response. These findings suggest a paradigm for magneto-orbital control of XMR and are relevant to the understanding of rare-earth-based correlated topological materials.

  14. Genetic diversity among endangered rare Dalbergia cochinchinensis

    African Journals Online (AJOL)

    hocvan

    Experimental Taxonomy and Genetic Diversity, Vietnam National Museum of Nature, Vietnam Academy for Science and ... Genetic diversity of the 35 genotypes of D. cochinchinensis species were evaluated by ...... Dalbergia genus at the population level of genetic .... Population genetic software for teaching and research.

  15. Genetic and Rare Diseases Information Center (GARD)

    Data.gov (United States)

    Federal Laboratory Consortium — NCATS collaborates with the National Human Genome Research Institute (NHGRI) to support GARD, a center designed to provide comprehensive information about rare and...

  16. Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

    NARCIS (Netherlands)

    Gaastra, Benjamin; Shatunov, Aleksey; Pulit, Sara; Jones, Ashley R; Sproviero, William; Gillett, Alexandra; Chen, Zhongbo; Kirby, Janine; Fogh, Isabella; Powell, John F; Leigh, P Nigel; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; van den Berg, Leonard H; Veldink, Jan H; Lewis, Cathryn M; Al-Chalabi, Ammar

    2016-01-01

    Our objective was to identify whether rare genetic variation in amyotrophic lateral sclerosis (ALS) candidate survival genes modifies ALS survival. Candidate genes were selected based on evidence for modifying ALS survival. Each tail of the extreme 1.5% of survival was selected from the UK MND DNA

  17. Eye and rare genetic diseases: Case series and literature review ...

    African Journals Online (AJOL)

    Genetic diseases are generally characterised by a multi visceral pathogenesis. Although orphan, these diseases interest many disciplines due to their clinical expression. Eye is sometimes part of the clinical polymorphism of some rare genetic diseases. Ocular signs are in some cases leading to the diagnosis of these ...

  18. Hiccup: An Extremely Rare Presentation of Thyrotoxicosis of Graves’ Disease

    Directory of Open Access Journals (Sweden)

    Irshad Parray

    2011-03-01

    Full Text Available Persistent hiccup is a rare but potentially severe condition that can be symptomatic of a variety of diseases or idiopathic. Most episodes last only a few minutes and are self-limited, but hiccup can get persistent and become a real problem for physician and patient alike. The center of hiccup may be activated by a great variety of stimuli travelling along different nerve pathways and bring different effecter responses. We report a case of persistent hiccup as a presentation of impending thyroid storm of Graves’ disease. Though the condition is rare, clinicians should remain alert to the possibility of this diagnosis.

  19. Rare genetic diseases: update on diagnosis, treatment and online resources.

    Science.gov (United States)

    Pogue, Robert E; Cavalcanti, Denise P; Shanker, Shreya; Andrade, Rosangela V; Aguiar, Lana R; de Carvalho, Juliana L; Costa, Fabrício F

    2018-01-01

    Rare genetic diseases collectively impact a significant portion of the world's population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders. Here, we discuss how the collection of various types of information together with the use of new technologies is facilitating diagnosis and, consequently, treatment of rare diseases. Copyright © 2017 Elsevier Ltd. All rights reserved.

  20. Genetics Home Reference: paroxysmal extreme pain disorder

    Science.gov (United States)

    ... include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy ... find a genetics professional in my area? Other Names for This Condition familial rectal pain PEPD PEXPD ...

  1. An extremely rare neoplasm, histiocytic sarcoma: A report of two cases with an aggressive clinical course

    Directory of Open Access Journals (Sweden)

    Erkan Kayikcioglu

    2017-07-01

    Conclusions: HS is an extremely rare malignant neoplasm of the monocytic/macrophage lineage, with no standardized chemotherapy regimen for multisystemic disease. Metastatic patients have a more aggressive clinical course than those with unifocal disease.

  2. Computer tomography for rare soft tissue tumours of the extremities

    International Nuclear Information System (INIS)

    Boettger, E.; Semerak, M.; Stoltze, D.; Rossak, K.

    1979-01-01

    Five patients with undiagnosed soft tissue masses in the extremities were examined and in two a pathological diagnosis could be made. One was an extensive, invasive fibroma (desmoid) 22 cm long which could be followed from the thigh almost into the pelvis. It was sharply demarkated form the surrounding muscles and of higher density. The second case was a 12 cm long cavernous haemangioma in the semi-membranosus muscle. This was originally hypo-dense, but showed marked increase in its density after the administration of contrast. (orig.) [de

  3. Lipofibromatous Hamartoma of the Plantar Nerve An Extremely Rare Localization.

    Science.gov (United States)

    Mert, Murat; Hacısalihoglu, Payam

    2018-03-01

    Lipofibromatous hamartoma (LFH) is a rare, benign, tumor-like soft-tissue lesion that affects the peripheral nerves and forms a palpable neurogenic mass. Lipofibromatous hamartoma is associated with pain and sensory and/or motor deficits in the area of innervation of the affected nerve. This report describes a rare case of LFH of the plantar nerve. A 48-year-old woman presented to our outpatient orthopedic clinic with pain and a burning sensation on her left foot. The patient had a history of Morton's neuroma and had undergone a tarsal tunnel operation 2 years earlier at another center. None of her symptoms was alleviated by two previous operations. Magnetic resonance imaging with contrast revealed tenosynovitis of the flexor hallucis longus tendon and signal changes at deep tissue planes of the foot at the levels of the second and third toes, on the dorsal site and subcutaneous soft-tissue planes, suggesting edema and Morton's neuroma. The lesion was excised under spinal anesthesia, and histopathologic examination of the specimen revealed a diagnosis of LFH. The patient was discharged without any symptoms and her foot was normal at 8-month outpatient follow-up, with no indications of postoperative complications and/or recurrence.

  4. Ecological and population genetics of locally rare plants: A review

    Science.gov (United States)

    Simon A. Lei

    2001-01-01

    Plant species with limited dispersal ability, narrow geographical and physiological tolerance ranges, as well as with specific habitat and ecological requirements are likely to be rare. Small and isolated populations and species contain low levels of within-population genetic variation in many plant species. The gene pool of plants is a product of phenotype-environment...

  5. Genetic background of extreme violent behavior.

    Science.gov (United States)

    Tiihonen, J; Rautiainen, M-R; Ollila, H M; Repo-Tiihonen, E; Virkkunen, M; Palotie, A; Pietiläinen, O; Kristiansson, K; Joukamaa, M; Lauerma, H; Saarela, J; Tyni, S; Vartiainen, H; Paananen, J; Goldman, D; Paunio, T

    2015-06-01

    In developed countries, the majority of all violent crime is committed by a small group of antisocial recidivistic offenders, but no genes have been shown to contribute to recidivistic violent offending or severe violent behavior, such as homicide. Our results, from two independent cohorts of Finnish prisoners, revealed that a monoamine oxidase A (MAOA) low-activity genotype (contributing to low dopamine turnover rate) as well as the CDH13 gene (coding for neuronal membrane adhesion protein) are associated with extremely violent behavior (at least 10 committed homicides, attempted homicides or batteries). No substantial signal was observed for either MAOA or CDH13 among non-violent offenders, indicating that findings were specific for violent offending, and not largely attributable to substance abuse or antisocial personality disorder. These results indicate both low monoamine metabolism and neuronal membrane dysfunction as plausible factors in the etiology of extreme criminal violent behavior, and imply that at least about 5-10% of all severe violent crime in Finland is attributable to the aforementioned MAOA and CDH13 genotypes.

  6. Sousse: extreme genetic heterogeneity in North Africa.

    Science.gov (United States)

    Fadhlaoui-Zid, Karima; Garcia-Bertrand, Ralph; Alfonso-Sánchez, Miguel A; Zemni, Ramzi; Benammar-Elgaaied, Amel; Herrera, Rene J

    2015-01-01

    The male genetic landscape of the territory currently known as Tunisia is hampered by the scarcity of data, especially from cosmopolitan areas such as the coastal city of Sousse. In order to alleviate this lacuna, 220 males from Sousse were examined, for the first time, for more than 50 Y-chromosome single-nucleotide polymorphisms (Y-SNPs) markers and compared with 3099 individuals from key geographically targeted locations in North Africa, Europe and the Near East. The paternal lineages observed belong to a common set of Y haplogroups previously described in North Africa. In addition to the prominent autochthonous North African E-M81 haplogroup which is exclusively represented by its subclade E-M183 (44.55% of Y-chromosomes), a number of Near Eastern Neolithic lineages including E-M78, J-M267 and J-M172 account for 39% of the Y-chromosomes detected. Principal component analysis based on haplogroup frequencies, multidimensional scaling based on Rst genetic distances and analyses of molecular variance using both Y-chromosome short tandem repeat haplotypes and Y-SNP haplogroup data revealed that the Tunisian and North African groups, as a whole, are intra- and inter-specific diverse with Sousse being highly heterogeneous.

  7. Privacy preserving protocol for detecting genetic relatives using rare variants.

    Science.gov (United States)

    Hormozdiari, Farhad; Joo, Jong Wha J; Wadia, Akshay; Guan, Feng; Ostrosky, Rafail; Sahai, Amit; Eskin, Eleazar

    2014-06-15

    High-throughput sequencing technologies have impacted many areas of genetic research. One such area is the identification of relatives from genetic data. The standard approach for the identification of genetic relatives collects the genomic data of all individuals and stores it in a database. Then, each pair of individuals is compared to detect the set of genetic relatives, and the matched individuals are informed. The main drawback of this approach is the requirement of sharing your genetic data with a trusted third party to perform the relatedness test. In this work, we propose a secure protocol to detect the genetic relatives from sequencing data while not exposing any information about their genomes. We assume that individuals have access to their genome sequences but do not want to share their genomes with anyone else. Unlike previous approaches, our approach uses both common and rare variants which provide the ability to detect much more distant relationships securely. We use a simulated data generated from the 1000 genomes data and illustrate that we can easily detect up to fifth degree cousins which was not possible using the existing methods. We also show in the 1000 genomes data with cryptic relationships that our method can detect these individuals. The software is freely available for download at http://genetics.cs.ucla.edu/crypto/. © The Author 2014. Published by Oxford University Press.

  8. A rare disease in an atypical location - Kimura's Disease of the upper extremity

    Energy Technology Data Exchange (ETDEWEB)

    Lam, Alan Cheuk Si; Lau, Vince Wing Hang [Queen Mary Hospital, Department of Radiology, Hong Kong (China); Au Yeung, Rex Kwok Him [University of Hong Kong, Department of Pathology, Li Ka Shing Faculty of Medicine, Hong Kong (China)

    2015-12-15

    Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

  9. A rare disease in an atypical location - Kimura's Disease of the upper extremity

    International Nuclear Information System (INIS)

    Lam, Alan Cheuk Si; Lau, Vince Wing Hang; Au Yeung, Rex Kwok Him

    2015-01-01

    Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

  10. Using Extreme Phenotype Sampling to Identify the Rare Causal Variants of Quantitative Traits in Association Studies

    OpenAIRE

    Li, Dalin; Lewinger, Juan Pablo; Gauderman, William J.; Murcray, Cassandra Elizabeth; Conti, David

    2011-01-01

    Variants identified in recent genome-wide association studies based on the common-disease common-variant hypothesis are far from fully explaining the hereditability of complex traits. Rare variants may, in part, explain some of the missing hereditability. Here, we explored the advantage of the extreme phenotype sampling in rare-variant analysis and refined this design framework for future large-scale association studies on quantitative traits. We first proposed a power calculation approach fo...

  11. Simulation of the 23 July 2012 Extreme Space Weather Event: What if This Extremely Rare CME Was Earth Directed?

    Science.gov (United States)

    Ngwira, Chigomezyo M.; Pulkkinen, Antti; Mays, M. Leila; Kuznetsova, Maria M.; Galvin, A. B.; Simunac, Kristin; Baker, Daniel N.; Li, Xinlin; Zheng, Yihua; Glocer, Alex

    2013-01-01

    Extreme space weather events are known to cause adverse impacts on critical modern day technological infrastructure such as high-voltage electric power transmission grids. On 23 July 2012, NASA's Solar Terrestrial Relations Observatory-Ahead (STEREO-A) spacecraft observed in situ an extremely fast coronal mass ejection (CME) that traveled 0.96 astronomical units (approx. 1 AU) in about 19 h. Here we use the SpaceWeather Modeling Framework (SWMF) to perform a simulation of this rare CME.We consider STEREO-A in situ observations to represent the upstream L1 solar wind boundary conditions. The goal of this study is to examine what would have happened if this Rare-type CME was Earth-bound. Global SWMF-generated ground geomagnetic field perturbations are used to compute the simulated induced geoelectric field at specific ground-based active INTERMAGNET magnetometer sites. Simulation results show that while modeled global SYM-H index, a high-resolution equivalent of the Dst index, was comparable to previously observed severe geomagnetic storms such as the Halloween 2003 storm, the 23 July CME would have produced some of the largest geomagnetically induced electric fields, making it very geoeffective. These results have important practical applications for risk management of electrical power grids.

  12. Genetic/metabolic effect of iron metabolism and rare anemias

    Directory of Open Access Journals (Sweden)

    Clara Camaschella

    2013-03-01

    Full Text Available Advances in iron metabolism have allowed a novel classification of iron disorders and to identify previously unknown diseases. These disorders include genetic iron overload (hemochromatosis and inherited iron-related anemias, in some cases accompanied by iron overload. Rare inherited anemias may affect the hepcidin pathway, iron absorption, transport, utilization and recycling. Among the genetic iron-related anemias the most common form is likely the iron-refractory iron-deficiency anemia (IRIDA, due to mutations of the hepcidin inhibitor TMPRSS6 encoding the serine protease matriptase-2. IRIDA is characterized by hepcidin up-regulation, decrease iron absorption and macrophage recycling and by microcytic- hypochromic anemia, unresponsive to oral iron. High serum hepcidin levels may suggest the diagnosis, which requires demonstrating the causal TMPRSS6 mutations by gene sequencing. Other rare microcytic hypochromic anemias associated with defects of iron transport-uptake are the rare hypotransferrinemia, and DMT1 and STEAP3 mutations. The degree of anemia is variable and accompanied by secondary iron overload even in the absence of blood transfusions. This is due to the iron-deficient or expanded erythropoiesis that inhibits hepcidin transcription, increases iron absorption, through the erythroid regulator, as in untransfused beta-thalassemia. Sideroblastic anemias are due to decreased mitochondrial iron utilization for heme or sulfur cluster synthesis. Their diagnosis requires demonstrating ringed sideroblasts by Perl’s staining of the bone marrow smears. The commonest X-linked form is due to deltaamino- levulinic-synthase-2-acid (ALAS2 mutations. The recessive, more severe form, affects SLC25A38, which encodes a potential mitochondrial importer of glycine, an amino acid essential for ALA synthesis and thus results in heme deficiency. Two disorders affect iron/sulfur cluster biogenesis: deficiency of the ATP-binding cassette B7 (ABCB7 causes X

  13. Modeling AEC—New Approaches to Study Rare Genetic Disorders

    Science.gov (United States)

    Koch, Peter J.; Dinella, Jason; Fete, Mary; Siegfried, Elaine C.; Koster, Maranke I.

    2015-01-01

    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients’ skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient’s own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. PMID:24665072

  14. Integrating common and rare genetic variation in diverse human populations.

    Science.gov (United States)

    Altshuler, David M; Gibbs, Richard A; Peltonen, Leena; Altshuler, David M; Gibbs, Richard A; Peltonen, Leena; Dermitzakis, Emmanouil; Schaffner, Stephen F; Yu, Fuli; Peltonen, Leena; Dermitzakis, Emmanouil; Bonnen, Penelope E; Altshuler, David M; Gibbs, Richard A; de Bakker, Paul I W; Deloukas, Panos; Gabriel, Stacey B; Gwilliam, Rhian; Hunt, Sarah; Inouye, Michael; Jia, Xiaoming; Palotie, Aarno; Parkin, Melissa; Whittaker, Pamela; Yu, Fuli; Chang, Kyle; Hawes, Alicia; Lewis, Lora R; Ren, Yanru; Wheeler, David; Gibbs, Richard A; Muzny, Donna Marie; Barnes, Chris; Darvishi, Katayoon; Hurles, Matthew; Korn, Joshua M; Kristiansson, Kati; Lee, Charles; McCarrol, Steven A; Nemesh, James; Dermitzakis, Emmanouil; Keinan, Alon; Montgomery, Stephen B; Pollack, Samuela; Price, Alkes L; Soranzo, Nicole; Bonnen, Penelope E; Gibbs, Richard A; Gonzaga-Jauregui, Claudia; Keinan, Alon; Price, Alkes L; Yu, Fuli; Anttila, Verneri; Brodeur, Wendy; Daly, Mark J; Leslie, Stephen; McVean, Gil; Moutsianas, Loukas; Nguyen, Huy; Schaffner, Stephen F; Zhang, Qingrun; Ghori, Mohammed J R; McGinnis, Ralph; McLaren, William; Pollack, Samuela; Price, Alkes L; Schaffner, Stephen F; Takeuchi, Fumihiko; Grossman, Sharon R; Shlyakhter, Ilya; Hostetter, Elizabeth B; Sabeti, Pardis C; Adebamowo, Clement A; Foster, Morris W; Gordon, Deborah R; Licinio, Julio; Manca, Maria Cristina; Marshall, Patricia A; Matsuda, Ichiro; Ngare, Duncan; Wang, Vivian Ota; Reddy, Deepa; Rotimi, Charles N; Royal, Charmaine D; Sharp, Richard R; Zeng, Changqing; Brooks, Lisa D; McEwen, Jean E

    2010-09-02

    Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of genetic variation.

  15. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

    Science.gov (United States)

    Rovelet-Lecrux, Anne; Legallic, Solenn; Wallon, David; Flaman, Jean-Michel; Martinaud, Olivier; Bombois, Stéphanie; Rollin-Sillaire, Adeline; Michon, Agnès; Le Ber, Isabelle; Pariente, Jérémie; Puel, Michèle; Paquet, Claire; Croisile, Bernard; Thomas-Antérion, Catherine; Vercelletto, Martine; Lévy, Richard; Frébourg, Thierry; Hannequin, Didier; Campion, Dominique

    2012-06-01

    Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed.

  16. Cryptococcoma mimicking a brain tumor in an immunocompetent patient: case report of an extremely rare presentation.

    Science.gov (United States)

    Paiva, Aline Lariessy Campos; Aguiar, Guilherme Brasileiro de; Lovato, Renan Maximilian; Zanetti, Arthus Vilar Deolindo; Panagopoulos, Alexandros Theodoros; Veiga, José Carlos Esteves

    2017-11-06

    Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.

  17. Higher order magnetic modulation structures in rare earth metal, alloys and compounds under extreme conditions

    International Nuclear Information System (INIS)

    Kawano, S.

    2003-01-01

    Magnetic materials consisting of rare earth ions form modulation structures such as a helical or sinusoidal structure caused by the oscillating magnetic interaction between rare earth ions due to RKKY magnetic interaction. These modulation structures, in some cases, develop further to higher order modulation structures by additional modulations caused by higher order crystalline electric field, magnetic interactions such as spin-lattice interaction, external magnetic field and pressure. The higher order modulation structures are observed in a spin-slip structure or a helifan structure in Ho, and a tilt helix structure in a TbEr alloy. Paramagnetic ions originated from frustration generate many magnetic phases under applied external magnetic field. KUR neutron diffraction groups have performed the development and adjustment of high-pressure instruments and external magnetic fields for neutron diffraction spectrometers. The studies of 'neutron diffraction under extreme conditions' by the seven groups are described in this report. (Y. Kazumata)

  18. Malignant Hidradenocarcinoma in the Lower Extremity: A Case Report of a Rare Tumor.

    Science.gov (United States)

    Kane, Brendan; Adler, Evan; Bhandari, Tarun; Rose, Michael; DiGuglielmo, Nicola; Sun, Xiu

    Malignant hidradenocarcinomas are rare soft tissue tumors of sweat gland origin. We present the case of a soft tissue, fungating tumor of 15 years' duration of the medial ankle in an 85-year-old male that exhibited malignant features clinically and radiographically. Subsequent punch biopsy revealed a diagnosis of malignant hidradenocarcinoma. Given the risk of recurrence and the poor radiation and chemotherapy options, the patient initially decided to leave the lesion untreated. However, he soon developed lower extremity cellulitis from the exposed lesion and decided to have the tumor excised, eliminating the source of the infection. In the present case study, we discuss the etiology, clinical and radiographic characteristics, and treatment options for this rare lesion. At the 18-month follow-up visit, he had had no recurrence of the lesion. Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling

    Directory of Open Access Journals (Sweden)

    Amy Farkas, MD

    2018-02-01

    Full Text Available Pulmonary sling is the anatomic variant defined by the aberrant origin of the left pulmonary artery from the right pulmonary artery. This patient presented with a mimic of pulmonary sling as a result of an extremely rare condition, arterial tortuosity syndrome (ATS. The patient was first diagnosed with pulmonary sling on prenatal echocardiogram performed by cardiology. Computed tomography angiography of the chest obtained at birth to evaluate respiratory depression demonstrated ATS. The early detection of ATS has been demonstrated to improve patient outcome. This case provides an overview of the typical imaging features of ATS to aid radiologists in making this uncommon diagnosis.

  20. Carcinoma ex basal cell adenoma of the parotid gland: A report of an extremely rare case.

    Science.gov (United States)

    Kusafuka, Kimihide; Kawasaki, Takuya; Nakajima, Takashi; Sugino, Takashi

    2017-07-01

    Malignant non-basaloid tumors that arise from basal cell adenoma (BCA) are extremely rare. The patient was a 72-year-old Japanese male, who had noticed swelling of the left parotid region 21 years ago. A superficial lobectomy was performed. About 60% of the tumor was made up of cribriform and trabecular tissue composed of basaloid cells, which exhibited mild atypia and nuclear expression of β-catenin. This portion of the tumor was considered to be a BCA. In the other part of the tumor, the proliferation of large eosinophilic atypical cells, most of which formed intraductal structures, was observed. These tumor cells displayed cellular atypia, and some of them formed Roman bridge structures or contributed to intracapsular invasion. Immunohistochemically, these cells were positive for cytokeratin 7, gross cystic disease fluid proten-15 (GCDFP-15), androgen receptor (AR), and mammaglobin (MMG) and exhibited a high Ki-67 labeling index. So, this portion of the tumor was considered to be a salivary duct carcinoma (SDC). The tumor's final diagnosis was SDC ex BCA (intracapsular type), which is extremely rare. GCDFP-15, AR, MMG, and Ki-67 are useful immunohistochemical markers for diagnosing SDC ex BCA. © 2017 The Authors. Pathology International Published by Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  1. An Extremely Rare Case of Advanced Metastatic Small Cell Neuroendocrine Carcinoma of Sinonasal Tract

    Directory of Open Access Journals (Sweden)

    Yu Yu Thar

    2016-01-01

    Full Text Available Small cell neuroendocrine carcinoma (SNEC is a rare form of malignancy. It mainly presents as bronchogenic neoplasm, and the extrapulmonary form accounts for only 0.1% to 0.4% of all cancers. These extrapulmonary tumors have been described most frequently in the urinary bladder, prostate, esophagus, stomach, colon and rectum, gall bladder, head and neck, cervix, and skin. Primary SNEC of the sinonasal tract is extremely rare with only less than 100 cases reported in the literature. Because of extreme rarity and aggressiveness of the tumor, the management for this entity varies considerably mandating multimodality approach. In this paper, we report a patient presented with left-sided facial swelling, and the histopathologic examination confirmed primary SNEC of left sinonasal tract. The tumor involved multiple paranasal sinuses with invasion into the left orbit and left infratemporal fossa and metastasized to cervical lymph nodes and bone. The patient encountered devastating outcome in spite of optimal medical management and treatment with palliative chemotherapy highlighting the necessity for further research of primary SNEC of head and neck.

  2. Thyroid Gland Metastasis from Cancer of the Uterine Cervix: An Extremely Rare Case Report.

    Science.gov (United States)

    Celik, Suleyman Utku; Besli, Dilara; Sak, Serpil Dizbay; Genc, Volkan

    The thyroid gland is a relatively uncommon site for a metastatic disease, although it is richly supplied with blood. The metastases may originate from various primary sites, mainly kidney, lung, head and neck, and breast. Thyroid metastasis from cervical carcinomas is extremely rare; and only a few cases have been previously reported in the literature. In patient with thyroid nodules and an oncological history, the possibility of thyroid metastasis should be seriously considered. Despite the rarity of the metastasis of cervical carcinoma to the thyroid, it is difficult to say appropriate treatment approach for these lesions. When managing such patients, decision-making should balance the possibility of gaining long-term survival against estimation of the aggressiveness of the disease and its possible complications. Here, a case of thyroid metastasis from a squamous cell carcinoma of the uterine cervix presenting with cervical mass and difficulty in swallowing and its treatment is reported.

  3. Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

    Directory of Open Access Journals (Sweden)

    Edoardo Giacopuzzi

    Full Text Available Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171 between genes inside ROHs affected by low frequency functional homozygous variants (107 genes and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8 and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2. These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in

  4. Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

    Science.gov (United States)

    Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara

    2017-01-01

    Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171) between genes inside ROHs affected by low frequency functional homozygous variants (107 genes) and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8) and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2). These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in genetically

  5. Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil

    Science.gov (United States)

    Gibbon, Sahra

    2018-01-01

    ABSTRACT Within the context of a globalising agenda for genetic research where ‘global health’ is increasingly seen as necessarily informed by and having to account for genomics, the focus on rare genetic diseases is becoming prominent. Drawing from ethnographic research carried out separately by both authors in Brazil, this paper examines how an emerging focus on two different arenas of rare genetic disease, cancer genetics and a class of degenerative neurological diseases known as Ataxias, is subject to and a product of the dynamics of inclusion and exclusion as this concerns participation in research and access to health care. It examines how in these different cases ‘rarenesss’ has been diversely situated and differently politicised and how clinicians, patients and their families grapple with the slippery boundaries between research, rights to health and the limits of care, therapy or prevention. It illustrates how attention to rare genetic disease in Brazil emerges at the intersection of a particular history of genetic research and public health infrastructure, densely complicated feedback loops between clinical care and research, patient mobilisation around the ‘judicialisation’ of health and recent state legislation regarding rare disease in Brazil. It highlights the relevance of local configurations in the way rare genetic disease is being made relevant for and by different communities. PMID:29533091

  6. Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil.

    Science.gov (United States)

    Gibbon, Sahra; Aureliano, Waleska

    2018-04-01

    Within the context of a globalising agenda for genetic research where 'global health' is increasingly seen as necessarily informed by and having to account for genomics, the focus on rare genetic diseases is becoming prominent. Drawing from ethnographic research carried out separately by both authors in Brazil, this paper examines how an emerging focus on two different arenas of rare genetic disease, cancer genetics and a class of degenerative neurological diseases known as Ataxias, is subject to and a product of the dynamics of inclusion and exclusion as this concerns participation in research and access to health care. It examines how in these different cases 'rarenesss' has been diversely situated and differently politicised and how clinicians, patients and their families grapple with the slippery boundaries between research, rights to health and the limits of care, therapy or prevention. It illustrates how attention to rare genetic disease in Brazil emerges at the intersection of a particular history of genetic research and public health infrastructure, densely complicated feedback loops between clinical care and research, patient mobilisation around the 'judicialisation' of health and recent state legislation regarding rare disease in Brazil. It highlights the relevance of local configurations in the way rare genetic disease is being made relevant for and by different communities.

  7. Serous Carcinoma of the Uterine Cervix, an Extremely Rare Aggressive Entity: A Literature Review.

    Science.gov (United States)

    Jonska-Gmyrek, Joanna; Zolciak-Siwinska, Agnieszka; Gmyrek, Leszek; Michalski, Wojciech; Poniatowska, Grazyna; Fuksiewicz, Malgorzata; Wiechno, Pawel; Kucharz, Jakub; Kowalska, Maria; Kotowicz, Beata

    2018-01-23

    Serous carcinoma of the uterine cervix (USCC) is an extremely rare subtype. To establish the treatment strategy in patients with USCC is an important issue. MEDLINE (PubMed) was searched for all articles published after the first publication by Lurie et al. [Eur J Obstet Gynecol Reprod Biol 1991; 40: 79-81], reporting woman diagnosed with USCC. Because of limited numbers of studies on the topic of the study, we could not keep a restriction of eliminating smaller sample sizes. A search of PubMed demonstrated that 113 cases of USCC have been reported in the literature since the first publication. The current treatment modality adopted for early cervical cancer is hysterectomy with bilateral iliac-obturator lymphadenectomy and postoperative radiotherapy (RT) or radiochemotherapy (RT-CT) if risk factors for cervical carcinoma appear. The treatment strategy for locally advanced USCC is preoperative RT-CT or chemotherapy (CHTH) with the intention to treat the patient surgically. The treatment option for disseminated disease is CHTH with paclitaxel and carboplatin. Risk factors and a more advanced clinical stage of USCC have an impact on poor outcomes despite the use of standard treatment methods, adapted for cervical cancer. The outside-pelvic failures tend to seek effective systemic treatment. © 2018 S. Karger AG, Basel.

  8. Onychomycosis: A Rare Presentation of Fungal Urinary Tract Infection in an Extremely Preterm Neonate

    Directory of Open Access Journals (Sweden)

    Shilpa Kalane

    2015-06-01

    Full Text Available Onychomycosis refers to nail infections, caused by fungi including yeasts and non-dermatophyte moulds. One or several toenails or fingernails (seldom all may be involved in this condition. Many cases of fingernail onychomycosis are due to yeasts. Fungal infection has emerged as an important cause of neonatal infection, associated with significant morbidity and mortality, especially in very low birth weight (< 1500 g and extremely low birth weight (< 1000 g infants. Herein, we report a case of a 24-day-old male infant, who presented with onychomycosis on the left ring fingernail, associated with fungal urinary tract infection (UTI. The evaluation of nails helped us detect fungal UTI. To date, there have been no reports suggesting onychomycosis as a presentation of fungal UTI. We could not find the association between onychomycosis and neonatal fungal UTI. Hence, retrospectively, it can be said that onychomycosis was a presentation of fungal UTI. Further studies are required to evaluate the etiology and treatment of neonatal onychomycosis. Moreover, dermatologists should pay particular attention to this rare event.

  9. Alstrom syndrome: A rare genetic disorder and its anaesthetic significance

    Directory of Open Access Journals (Sweden)

    Akhilesh Tiwari

    2010-01-01

    Full Text Available Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac to the musculoskeletal system, among many others. It exposes the patient to various risks ranging from pulmonary aspiration and increased cardiac morbidity to separational anxiety, and may necessitate postoperative elective ventilation. We hereby present the successful management of one such diagnosed case in a 12-year-old boy, who presented to us for incision and drainage of an abscess present over the nape of his neck, along with foreign body removal from his right ear.

  10. Extreme ultraviolet fluorescence spectroscopy of pure and core-shell rare gas clusters at FLASH

    Energy Technology Data Exchange (ETDEWEB)

    Schroedter, Lasse

    2013-08-15

    The interaction of rare gas clusters with short-wavelength radiation of free-electron lasers (FELs) has been studied extensively over the last decade by means of electron and ion time-of-flight spectroscopy. This thesis describes the design and construction of a fluorescence spectrometer for the extreme ultraviolet (XUV) spectral range and discusses the cluster experiments performed at FLASH, the Free-electron LAser in Hamburg. Fluorescence of xenon and of argon clusters was studied, both in dependence on the FEL pulse intensity and on the cluster size. The FEL wavelength was set to the giant 4d-resonance of xenon at 13.5 nm and the FEL pulse intensity reached peak values of 2.7.10{sup 15} W/cm{sup 2}. For xenon clusters, charge states of at least 11+ were identified. For argon, charge states up to 7+ were detected. The cluster-size dependent study revealed a decrease of the fluorescence yield per atom with increasing cluster size. This decrease is explained with the help of a geometric model. It assumes that virtually the entire fluorescence yield stems from shells of ions on the cluster surface, whereas ions in the cluster core predominantly recombine non-radiatively with electrons. However, the detailed analysis of fluorescence spectra from clusters consisting of a core of Xe atoms and a surrounding shell of argon atoms shows that, in fact, a small fraction of the fluorescence signal comes from Xe ions in the cluster core. Interestingly, these ions are as highly charged as the ions in the shells of a pure Xe cluster. This result goes beyond the current understanding of charge and energy transfer processes in these systems and points toward the observation of ultrafast charging dynamics in a time window where mass spectrometry is inherently blind. (orig.)

  11. Extreme ultraviolet fluorescence spectroscopy of pure and core-shell rare gas clusters at FLASH

    International Nuclear Information System (INIS)

    Schroedter, Lasse

    2013-08-01

    The interaction of rare gas clusters with short-wavelength radiation of free-electron lasers (FELs) has been studied extensively over the last decade by means of electron and ion time-of-flight spectroscopy. This thesis describes the design and construction of a fluorescence spectrometer for the extreme ultraviolet (XUV) spectral range and discusses the cluster experiments performed at FLASH, the Free-electron LAser in Hamburg. Fluorescence of xenon and of argon clusters was studied, both in dependence on the FEL pulse intensity and on the cluster size. The FEL wavelength was set to the giant 4d-resonance of xenon at 13.5 nm and the FEL pulse intensity reached peak values of 2.7.10 15 W/cm 2 . For xenon clusters, charge states of at least 11+ were identified. For argon, charge states up to 7+ were detected. The cluster-size dependent study revealed a decrease of the fluorescence yield per atom with increasing cluster size. This decrease is explained with the help of a geometric model. It assumes that virtually the entire fluorescence yield stems from shells of ions on the cluster surface, whereas ions in the cluster core predominantly recombine non-radiatively with electrons. However, the detailed analysis of fluorescence spectra from clusters consisting of a core of Xe atoms and a surrounding shell of argon atoms shows that, in fact, a small fraction of the fluorescence signal comes from Xe ions in the cluster core. Interestingly, these ions are as highly charged as the ions in the shells of a pure Xe cluster. This result goes beyond the current understanding of charge and energy transfer processes in these systems and points toward the observation of ultrafast charging dynamics in a time window where mass spectrometry is inherently blind. (orig.)

  12. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

    Science.gov (United States)

    Boycott, Kym M; Rath, Ana; Chong, Jessica X; Hartley, Taila; Alkuraya, Fowzan S; Baynam, Gareth; Brookes, Anthony J; Brudno, Michael; Carracedo, Angel; den Dunnen, Johan T; Dyke, Stephanie O M; Estivill, Xavier; Goldblatt, Jack; Gonthier, Catherine; Groft, Stephen C; Gut, Ivo; Hamosh, Ada; Hieter, Philip; Höhn, Sophie; Hurles, Matthew E; Kaufmann, Petra; Knoppers, Bartha M; Krischer, Jeffrey P; Macek, Milan; Matthijs, Gert; Olry, Annie; Parker, Samantha; Paschall, Justin; Philippakis, Anthony A; Rehm, Heidi L; Robinson, Peter N; Sham, Pak-Chung; Stefanov, Rumen; Taruscio, Domenica; Unni, Divya; Vanstone, Megan R; Zhang, Feng; Brunner, Han; Bamshad, Michael J; Lochmüller, Hanns

    2017-05-04

    Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  13. Population genetics at three spatial scales of a rare sponge living in fragmented habitats

    Directory of Open Access Journals (Sweden)

    Uriz Maria J

    2010-01-01

    Full Text Available Abstract Background Rare species have seldom been studied in marine habitats, mainly because it is difficult to formally assess the status of rare species, especially in patchy benthic organisms, for which samplings are often assumed to be incomplete and, thus, inappropriate for establishing the real abundance of the species. However, many marine benthic invertebrates can be considered rare, due to the fragmentation and rarity of suitable habitats. Consequently, studies on the genetic connectivity of rare species in fragmented habitats are basic for assessing their risk of extinction, especially in the context of increased habitat fragmentation by human activities. Sponges are suitable models for studying the intra- and inter-population genetic variation of rare invertebrates, as they produce lecitotrophic larvae and are often found in fragmented habitats. Results We investigated the genetic structure of a Mediterranean sponge, Scopalina lophyropoda (Schmidt, using the allelic size variation of seven specific microsatellite loci. The species can be classified as "rare" because of its strict habitat requirements, the low number of individuals per population, and the relatively small size of its distribution range. It also presents a strong patchy distribution, philopatric larval dispersal, and both sexual and asexual reproduction. Classical genetic-variance-based methods (AMOVA and differentiation statistics revealed that the genetic diversity of S. lophyropoda was structured at the three spatial scales studied: within populations, between populations of a geographic region, and between isolated geographic regions, although some stochastic gene flow might occur among populations within a region. The genetic structure followed an isolation-by-distance pattern according to the Mantel test. However, despite philopatric larval dispersal and fission events in the species, no single population showed inbreeding, and the contribution of clonality to the

  14. Featural versus configural face processing in a rare genetic disorder: Williams syndrome

    NARCIS (Netherlands)

    Isaac, L.; Lincoln, A.

    2011-01-01

    Background Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with impairment in the cognitive domains of

  15. Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval

    DEFF Research Database (Denmark)

    Lin, Honghuang; van Setten, Jessica; Smith, Albert V

    2018-01-01

    BACKGROUND: Electrical conduction from the cardiac sinoatrial node to the ventricles is critical for normal heart function. Genome-wide association studies have identified more than a dozen common genetic loci that are associated with PR interval. However, it is unclear whether rare and low-frequ...

  16. Genetic analysis of rare disorders: Bayesian estimation of twin concordance rates

    NARCIS (Netherlands)

    van den Berg, Stéphanie Martine; Hjelmborg, J.

    2012-01-01

    Twin concordance rates provide insight into the possibility of a genetic background for a disease. These concordance rates are usually estimated within a frequentistic framework. Here we take a Bayesian approach. For rare diseases, estimation methods based on asymptotic theory cannot be applied due

  17. Extremely rare collapse and build-up of turbulence in stochastic models of transitional wall flows.

    Science.gov (United States)

    Rolland, Joran

    2018-02-01

    This paper presents a numerical and theoretical study of multistability in two stochastic models of transitional wall flows. An algorithm dedicated to the computation of rare events is adapted on these two stochastic models. The main focus is placed on a stochastic partial differential equation model proposed by Barkley. Three types of events are computed in a systematic and reproducible manner: (i) the collapse of isolated puffs and domains initially containing their steady turbulent fraction; (ii) the puff splitting; (iii) the build-up of turbulence from the laminar base flow under a noise perturbation of vanishing variance. For build-up events, an extreme realization of the vanishing variance noise pushes the state from the laminar base flow to the most probable germ of turbulence which in turn develops into a full blown puff. For collapse events, the Reynolds number and length ranges of the two regimes of collapse of laminar-turbulent pipes, independent collapse or global collapse of puffs, is determined. The mean first passage time before each event is then systematically computed as a function of the Reynolds number r and pipe length L in the laminar-turbulent coexistence range of Reynolds number. In the case of isolated puffs, the faster-than-linear growth with Reynolds number of the logarithm of mean first passage time T before collapse is separated in two. One finds that ln(T)=A_{p}r-B_{p}, with A_{p} and B_{p} positive. Moreover, A_{p} and B_{p} are affine in the spatial integral of turbulence intensity of the puff, with the same slope. In the case of pipes initially containing the steady turbulent fraction, the length L and Reynolds number r dependence of the mean first passage time T before collapse is also separated. The author finds that T≍exp[L(Ar-B)] with A and B positive. The length and Reynolds number dependence of T are then discussed in view of the large deviations theoretical approaches of the study of mean first passage times and

  18. Extremely rare collapse and build-up of turbulence in stochastic models of transitional wall flows

    Science.gov (United States)

    Rolland, Joran

    2018-02-01

    This paper presents a numerical and theoretical study of multistability in two stochastic models of transitional wall flows. An algorithm dedicated to the computation of rare events is adapted on these two stochastic models. The main focus is placed on a stochastic partial differential equation model proposed by Barkley. Three types of events are computed in a systematic and reproducible manner: (i) the collapse of isolated puffs and domains initially containing their steady turbulent fraction; (ii) the puff splitting; (iii) the build-up of turbulence from the laminar base flow under a noise perturbation of vanishing variance. For build-up events, an extreme realization of the vanishing variance noise pushes the state from the laminar base flow to the most probable germ of turbulence which in turn develops into a full blown puff. For collapse events, the Reynolds number and length ranges of the two regimes of collapse of laminar-turbulent pipes, independent collapse or global collapse of puffs, is determined. The mean first passage time before each event is then systematically computed as a function of the Reynolds number r and pipe length L in the laminar-turbulent coexistence range of Reynolds number. In the case of isolated puffs, the faster-than-linear growth with Reynolds number of the logarithm of mean first passage time T before collapse is separated in two. One finds that ln(T ) =Apr -Bp , with Ap and Bp positive. Moreover, Ap and Bp are affine in the spatial integral of turbulence intensity of the puff, with the same slope. In the case of pipes initially containing the steady turbulent fraction, the length L and Reynolds number r dependence of the mean first passage time T before collapse is also separated. The author finds that T ≍exp[L (A r -B )] with A and B positive. The length and Reynolds number dependence of T are then discussed in view of the large deviations theoretical approaches of the study of mean first passage times and multistability

  19. Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

    Directory of Open Access Journals (Sweden)

    Taha Faruqi

    2014-01-01

    Full Text Available A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

  20. Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

    Directory of Open Access Journals (Sweden)

    Haji Mohammed Nazir

    2017-01-01

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

  1. Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder

    Directory of Open Access Journals (Sweden)

    Bhaskara P Shelley

    2016-01-01

    Full Text Available The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic awareness of chondrodystrophic myotonia or Schwartz–Jampel syndrome, a very rare genetic disorder. This autosomal recessive disorder due to mutations in the gene Perlecan leads to abnormal cartilage development and anomalous neuromuscular activity.

  2. Waardenburg syndrome: A rare genetic disorder, a report of two cases.

    Science.gov (United States)

    Kumar, Sudesh; Rao, Kiran

    2012-05-01

    Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

  3. Primary histiocytic sarcoma of the uterine cervix: an extremely rare entity

    Directory of Open Access Journals (Sweden)

    Binesh Fariba

    2017-03-01

    Full Text Available Objective. Histiocytic sarcoma (HS is an extraordinary rare tumor and it has an offensive clinical course. HS of the uterine cervix is a far uncommon tumor with just a few cases described so far. Here we presented a case of primary HS of the uterine cervix in a 62-year-old female initially misdiagnosed as large cell non-keratinizing squamous cell carcinoma. To the best of our knowledge, this is the first reported case of HS of the uterine cervix from Iran.

  4. An Extremely Rare and Unusual Case of Retroperitoneal and Pelvic Metastasis from Squamous Cell Carcinoma of Vallecula

    Directory of Open Access Journals (Sweden)

    Abhishek Purkayastha

    2016-06-01

    Full Text Available We report an extremely rare and unusual case of retroperitoneal and pelvic metastasis from primary squamous cell carcinoma of vallecula. Generally carcinoma oropharynx metastasizes to lungs, liver and bone while retroperitoneal and pelvic metastasis is rarely heard of. To the best of our knowledge this case is one of the scantly reported cases ever of this kind in the world.  A 60-year-old male presented with dysphagia and hoarseness of voice of four month duration.  Computed tomography (CT scan face and neck showed growth right vallecula. Biopsy of lesion showed squamous cell carcinoma. Metastatic work up was negative. He received definitive chemo-radiation. Patient during follow up presented with dyspepsia, abdominal discomfort and weight loss. Whole body positron emission tomography (WB PET scan revealed retroperitoneal and pelvic lymph node deposits which were confirmed as metastasis of squamous cell carcinoma by CT guided fine needle aspiration cytology (FNAC. Patient was exhibited palliative chemotherapy but his general condition deteriorated and he finally succumbed to his metastatic illness. This case is being reported to highlight its extreme rarity, the diagnostic and therapeutic challenges it presented and its overall dismal prognosis.

  5. Single coronary artery; extremely rare coronary anomaly successfully treated surgically in young adult male.

    LENUS (Irish Health Repository)

    Shah, A R

    2010-05-01

    Single coronary artery arising from aortic root, is a rare congenital anomaly. A 30-year-old male presented with acute myocardial infarction (MI) complaining of chest pain and raised troponin levels. Emergency angiography showed no coronary lesions but both left and right coronary arteries arising from single ostium. Patient was operated electively and perioperative findings confirmed the diagnosis of single coronary artery, as left coronary artery after taking origin from right sinus of valsalva runs through the septum, before dividing into left anterior descending and circumflex branches. The single coronary ostium opened with a slit like incision over the course of left main coronary, making the size of ostium three to four times bigger than the native one. In addition left internal mammary artery was harvested and grafted to the left anterior descending branch distally. Patient made successful recovery. Four months follow up dobutamine stress echo showed no inducible ischemia.

  6. Metastatic hepatocellular carcinoma in the maxilla and mandible, an extremely rare presentation

    Directory of Open Access Journals (Sweden)

    Satya Ranjan Misra

    2015-01-01

    Full Text Available Malignancy is characterized by anaplasia, invasiveness, and metastasis. Primary oral squamous cell carcinoma is the most prevalent oral malignancy, but secondary malignancy from distant sites have also been reported. Hepatocellular carcinoma (HCC is a common primary liver malignancy that frequently metastasizes during the course of the disease, but < 1% of cases show oral involvement. Such secondary neoplasms do not have any pathognomonic clinical or radiologic findings, and therefore they pose a diagnostic challenge. Hence, in the differential diagnosis of malignant tumors of the oral cavity, it is essential to consider the occurrence of both primary as well as metastatic tumors despite the low incidence of the latter. A rare case of HCC metastasizing to both the maxilla and mandible is presented, in which the patient succumbed to the disease as a result of the delay in diagnosis.

  7. [The hidradenocarcinoma of the wrist - an extremely rare malignant carcinoma: case presentation and literature review].

    Science.gov (United States)

    Arsalan-Werner, A; Mentzel, T; Kempf, B; Sauerbier, M

    2013-10-01

    Hidradenocarcinomas are rare, yet highly malignant tumors of eccrine sweat gland origin. Due to its locally aggressive growth and likelihood for metastasis it should be considered as a differential diagnosis especially in case of suspicious intraoperative findings. We report the case of a 73-year-old female patient presenting with a hidradenocarcinoma of the wrist. Treatment of hidradenocarcinomas is similar to the treatment of sarcomas: The first step is an incisional biopsy and obtaining an expert second opinion on the histopathological diagnosis as well as staging. The second step is a clear margin resection of the tumor and the plastic-surgical reconstruction. A long-term follow-up is mandatory to detect potential recurrence or metastasis. © Georg Thieme Verlag KG Stuttgart · New York.

  8. High genetic diversity in a potentially vulnerable tropical tree species despite extreme habitat loss.

    Directory of Open Access Journals (Sweden)

    Annika M E Noreen

    Full Text Available Over the last 150 years, Singapore's primary forest has been reduced to less than 0.2% of its previous area, resulting in extinctions of native flora and fauna. Remaining species may be threatened by genetic erosion and inbreeding. We surveyed >95% of the remaining primary forest in Singapore and used eight highly polymorphic microsatellite loci to assess genetic diversity indices of 179 adults (>30 cm stem diameter, 193 saplings (>1 yr, and 1,822 seedlings (<1 yr of the canopy tree Koompassia malaccensis (Fabaceae. We tested hypotheses relevant to the genetic consequences of habitat loss: (1 that the K. malaccensis population in Singapore experienced a genetic bottleneck and a reduction in effective population size, and (2 K. malaccensis recruits would exhibit genetic erosion and inbreeding compared to adults. Contrary to expectations, we detected neither a population bottleneck nor a reduction in effective population size, and high genetic diversity in all age classes. Genetic diversity indices among age classes were not significantly different: we detected overall high expected heterozygosity (He = 0.843-0.854, high allelic richness (R = 16.7-19.5, low inbreeding co-efficients (FIS = 0.013-0.076, and a large proportion (30.1% of rare alleles (i.e. frequency <1%. However, spatial genetic structure (SGS analyses showed significant differences between the adults and the recruits. We detected significantly greater SGS intensity, as well as higher relatedness in the 0-10 m distance class, for seedlings and saplings compared to the adults. Demographic factors for this population (i.e. <200 adult trees are a cause for concern, as rare alleles could be lost due to stochastic factors. The high outcrossing rate (tm = 0.961, calculated from seedlings, may be instrumental in maintaining genetic diversity and suggests that pollination by highly mobile bee species in the genus Apis may provide resilience to acute habitat loss.

  9. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

    Science.gov (United States)

    Tavtigian, Sean V; Byrnes, Graham B; Goldgar, David E; Thomas, Alun

    2008-11-01

    Many individually rare missense substitutions are encountered during deep resequencing of candidate susceptibility genes and clinical mutation screening of known susceptibility genes. BRCA1 and BRCA2 are among the most resequenced of all genes, and clinical mutation screening of these genes provides an extensive data set for analysis of rare missense substitutions. Align-GVGD is a mathematically simple missense substitution analysis algorithm, based on the Grantham difference, which has already contributed to classification of missense substitutions in BRCA1, BRCA2, and CHEK2. However, the distribution of genetic risk as a function of Align-GVGD's output variables Grantham variation (GV) and Grantham deviation (GD) has not been well characterized. Here, we used data from the Myriad Genetic Laboratories database of nearly 70,000 full-sequence tests plus two risk estimates, one approximating the odds ratio and the other reflecting strength of selection, to display the distribution of risk in the GV-GD plane as a series of surfaces. We abstracted contours from the surfaces and used the contours to define a sequence of missense substitution grades ordered from greatest risk to least risk. The grades were validated internally using a third, personal and family history-based, measure of risk. The Align-GVGD grades defined here are applicable to both the genetic epidemiology problem of classifying rare missense substitutions observed in known susceptibility genes and the molecular epidemiology problem of analyzing rare missense substitutions observed during case-control mutation screening studies of candidate susceptibility genes. (c) 2008 Wiley-Liss, Inc.

  10. Genetic technologies for extremely thermophilic microorganisms of Sulfolobus, the only genetically tractable genus of crenarchaea.

    Science.gov (United States)

    Peng, Nan; Han, Wenyuan; Li, Yingjun; Liang, Yunxiang; She, Qunxin

    2017-04-01

    Archaea represents the third domain of life, with the information-processing machineries more closely resembling those of eukaryotes than the machineries of the bacterial counterparts but sharing metabolic pathways with organisms of Bacteria, the sister prokaryotic phylum. Archaeal organisms also possess unique features as revealed by genomics and genome comparisons and by biochemical characterization of prominent enzymes. Nevertheless, diverse genetic tools are required for in vivo experiments to verify these interesting discoveries. Considerable efforts have been devoted to the development of genetic tools for archaea ever since their discovery, and great progress has been made in the creation of archaeal genetic tools in the past decade. Versatile genetic toolboxes are now available for several archaeal models, among which Sulfolobus microorganisms are the only genus representing Crenarchaeota because all the remaining genera are from Euryarchaeota. Nevertheless, genetic tools developed for Sulfolobus are probably the most versatile among all archaeal models, and these include viral and plasmid shuttle vectors, conventional and novel genetic manipulation methods, CRISPR-based gene deletion and mutagenesis, and gene silencing, among which CRISPR tools have been reported only for Sulfolobus thus far. In this review, we summarize recent developments in all these useful genetic tools and discuss their possible application to research into archaeal biology by means of Sulfolobus models.

  11. Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

    Directory of Open Access Journals (Sweden)

    Liu Melissa M

    2012-08-01

    Full Text Available Abstract Age-related macular degeneration (AMD is a complex and multifaceted disease involving contributions from both genetic and environmental influences. Previous work exploring the genetic contributions of AMD has implicated numerous genomic regions and a variety of candidate genes as modulators of AMD susceptibility. Nevertheless, much of this work has revolved around single-nucleotide polymorphisms (SNPs, and it is apparent that a significant portion of the heritability of AMD cannot be explained through these mechanisms. In this review, we consider the role of common variants, rare variants, copy number variations, epigenetics, microRNAs, and mitochondrial genetics in AMD. Copy number variations in regulators of complement activation genes (CFHR1 and CFHR3 and glutathione S transferase genes (GSTM1 and GSTT1 have been associated with AMD, and several additional loci have been identified as regions of potential interest but require further evaluation. MicroRNA dysregulation has been linked to the retinal pigment epithelium degeneration in geographic atrophy, ocular neovascularization, and oxidative stress, all of which are hallmarks in the pathogenesis of AMD. Certain mitochondrial DNA haplogroups and SNPs in mitochondrially encoded NADH dehydrogenase genes have also been associated with AMD. The role of these additional mechanisms remains only partly understood, but the importance of their further investigation is clear to elucidate more completely the genetic basis of AMD.

  12. Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion?

    Science.gov (United States)

    Field, Tessa; Brewster, Stephanie Jo; Towne, Meghan; Campion, MaryAnn W

    2016-08-01

    Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI's growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI's genomic communication needs.

  13. Violence is Rare in Autism: When It Does Occur, Is It Sometimes Extreme?

    Science.gov (United States)

    Allely, C S; Wilson, P; Minnis, H; Thompson, L; Yaksic, E; Gillberg, C

    2017-01-02

    A small body of literature has suggested that, rather than being more likely to engage in offending or violent behavior, individuals with autism spectrum disorder (ASD) may actually have an increased risk of being the victim rather than the perpetrator of violence (Sobsey, Wells, Lucardie, & Mansell, 1995 ). There is no evidence that people with ASD are more violent than those without ASD (Im, 2016). There is nevertheless a small subgroup of individuals with ASD who exhibit violent offending behaviours and our previous work has suggested that other factors, such as adverse childhood experiences, might be important in this subgroup (Allely, Minnis, Thompson, Wilson, & Gillberg, 2014 ). Fitzgerald ( 2015 ) highlights that school shootings and mass killings are not uncommonly carried out by individuals with neurodevelopmental disorders, with frequent evidence of warning indicators. The aim of the present review is to investigate this in more detail using the 73 mass shooting events identified by Mother Jones (motherjones.com) in their database for potential ASD features. There are 73 mass shooting events but there are two events where there is a pair of shooters which meant that 75 mass shooter cases were investigated. This exercise tentatively suggests evidence of ASD in six of 75 included cases (8%) which is about eight times higher when compared to the prevalence of ASD found in the general population worldwide (motherjones.com). The 8% figure for individuals with ASD involved mass killings is a conservative estimate. In addition to the six cases which provide the 8% figure, there were 16 other cases with some indication of ASD. Crucially, ASD may influence, but does not cause, an individual to commit extreme violent acts such as a mass shooting episode.

  14. Tree species traits but not diversity mitigate stem breakage in a subtropical forest following a rare and extreme ice storm.

    Directory of Open Access Journals (Sweden)

    Karin Nadrowski

    Full Text Available Future climates are likely to include extreme events, which in turn have great impacts on ecological systems. In this study, we investigated possible effects that could mitigate stem breakage caused by a rare and extreme ice storm in a Chinese subtropical forest across a gradient of forest diversity. We used Bayesian modeling to correct stem breakage for tree size and variance components analysis to quantify the influence of taxon, leaf and wood functional traits, and stand level properties on the probability of stem breakage. We show that the taxon explained four times more variance in individual stem breakage than did stand level properties; trees with higher specific leaf area (SLA were less susceptible to breakage. However, a large part of the variation at the taxon scale remained unexplained, implying that unmeasured or undefined traits could be used to predict damage caused by ice storms. When aggregated at the plot level, functional diversity and wood density increased after the ice storm. We suggest that for the adaption of forest management to climate change, much can still be learned from looking at functional traits at the taxon level.

  15. Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions.

    Science.gov (United States)

    Milner, Joshua D

    2018-01-29

    Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job's syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent of the affliction cast upon the biblical Job. Many fascinating observations have been made regarding the pathogenesis of the disease and the role STAT3 plays in human health and disease. Additionally, quite a few phenotypic descriptions from the Book of Job are similar to those seen in patients with STAT3LOF AD-HIES, beyond just the boils. This complex multisystem genetic disorder is a challenge clinically and scientifically, but it also brings into question how we approach genetic syndromes beyond just the technical aspects of research and treatment.

  16. Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.

    Science.gov (United States)

    Douzgou, Sofia; Pollalis, Yiannis A; Vozikis, Athanassios; Patrinos, George P; Clayton-Smith, Jill

    2016-01-01

    The big-data revolution is creating a challenge for the provision of services in the health sector to keep pace with the expectations of the general population. Utilization of crowdsourcing can impact positively on the quality, cost and speed of healthcare by involving large sections of professionals and the public and creating novel science within an ethical framework. In 2007, the DYSCERNE project was funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (submitting nodes), in 26 different European countries. DYSCERNE utilized the process of crowdsourcing international expertise for the clinical diagnosis of very rare genetic syndromes of multiple congenital anomalies. This is the first reported account of collaborative crowd sourcing in dysmorphology, as part of a clinical genetics service. © 2015 S. Karger AG, Basel.

  17. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

    Science.gov (United States)

    Morgan, Sarah; Shatunov, Aleksey; Sproviero, William; Jones, Ashley R; Shoai, Maryam; Hughes, Deborah; Al Khleifat, Ahmad; Malaspina, Andrea; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Sidle, Katie; Orrell, Richard W; Fratta, Pietro; Hardy, John; Pittman, Alan; Al-Chalabi, Ammar

    2017-06-01

    Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2. We found 11 patients (1%) carried more than one pathogenic variant (P = 0.001) consistent with an oligogenic basis of amyotrophic lateral sclerosis. These findings show that the genetic architecture of amyotrophic lateral sclerosis is complex and that variation in the regulatory regions of associated genes may be important in disease pathogenesis. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  18. Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Jacobsen, Rune; Sørensen, Mette

    2013-01-01

    The analysis of age-specific genetic effects on human survival over extreme ages is confronted with a deceleration pattern in mortality that deviates from traditional survival models and sparse genetic data available. As human late life is a distinct phase of life history, exploring the genetic...... effects on extreme age survival can be of special interest to evolutionary biology and health science. We introduce a non-parametric survival analysis approach that combines population survival information with individual genotype data in assessing the genetic effects in cohort-based longitudinal studies...

  19. Probability estimation of rare extreme events in the case of small samples: Technique and examples of analysis of earthquake catalogs

    Science.gov (United States)

    Pisarenko, V. F.; Rodkin, M. V.; Rukavishnikova, T. A.

    2017-11-01

    The most general approach to studying the recurrence law in the area of the rare largest events is associated with the use of limit law theorems of the theory of extreme values. In this paper, we use the Generalized Pareto Distribution (GPD). The unknown GPD parameters are typically determined by the method of maximal likelihood (ML). However, the ML estimation is only optimal for the case of fairly large samples (>200-300), whereas in many practical important cases, there are only dozens of large events. It is shown that in the case of a small number of events, the highest accuracy in the case of using the GPD is provided by the method of quantiles (MQs). In order to illustrate the obtained methodical results, we have formed the compiled data sets characterizing the tails of the distributions for typical subduction zones, regions of intracontinental seismicity, and for the zones of midoceanic (MO) ridges. This approach paves the way for designing a new method for seismic risk assessment. Here, instead of the unstable characteristics—the uppermost possible magnitude M max—it is recommended to use the quantiles of the distribution of random maxima for a future time interval. The results of calculating such quantiles are presented.

  20. DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants

    Directory of Open Access Journals (Sweden)

    Vickie Kwan

    2016-11-01

    Full Text Available The development of neural connectivity is essential for brain function, and disruption of this process is associated with autism spectrum disorders (ASDs. DIX domain containing 1 (DIXDC1 has previously been implicated in neurodevelopmental disorders, but its role in postnatal brain function remains unknown. Using a knockout mouse model, we determined that DIXDC1 is a regulator of excitatory neuron dendrite development and synapse function in the cortex. We discovered that MARK1, previously linked to ASDs, phosphorylates DIXDC1 to regulate dendrite and spine development through modulation of the cytoskeletal network in an isoform-specific manner. Finally, rare missense variants in DIXDC1 were identified in ASD patient cohorts via genetic sequencing. Interestingly, the variants inhibit DIXDC1 isoform 1 phosphorylation, causing impairment to dendrite and spine growth. These data reveal that DIXDC1 is a regulator of cortical dendrite and synaptic development and provide mechanistic insight into morphological defects associated with neurodevelopmental disorders.

  1. Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing.

    Science.gov (United States)

    Jauhri, Mayank; Bhatnagar, Akanksha; Gupta, Satish; Shokeen, Yogender; Minhas, Sachin; Aggarwal, Shyam

    2016-10-01

    Mutation frequencies of common genetic alterations in colorectal cancer have been in the spotlight for many years. This study highlights few rare somatic mutations, which possess the attributes of a potential CRC biomarker yet are often neglected. Next-generation sequencing was performed over 112 tumor samples to detect genetic alterations in 31 rare genes in colorectal cancer. Mutations were detected in 26/31 (83.9 %) uncommon genes, which together contributed toward 149 gene mutations in 67/112 (59.8 %) colorectal cancer patients. The most frequent mutations include KDR (19.6 %), PTEN (17 %), FBXW7 (10.7 %), SMAD4 (10.7 %), VHL (8 %), KIT (8 %), MET (7.1 %), ATM (6.3 %), CTNNB1 (4.5 %) and CDKN2A (4.5 %). RB1, ERBB4 and ERBB2 mutations were persistent in 3.6 % patients. GNAS, FGFR2 and FGFR3 mutations were persistent in 1.8 % patients. Ten genes (EGFR, NOTCH1, SMARCB1, ABL1, STK11, SMO, RET, GNAQ, CSF1R and FLT3) were found mutated in 0.9 % patients. Lastly, no mutations were observed in AKT, HRAS, MAP2K1, PDGFR and JAK2. Significant associations were observed between VHL with tumor site, ERBB4 and SMARCB1 with tumor invasion, CTNNB1 with lack of lymph node involvement and CTNNB1, FGFR2 and FGFR3 with TNM stage. Significantly coinciding mutation pairs include PTEN and SMAD4, PTEN and KDR, EGFR and RET, EGFR and RB1, FBXW7 and CTNNB1, KDR and FGFR2, FLT3 and CTNNB1, RET and RB1, ATM and SMAD4, ATM and CDKN2A, ERBB4 and SMARCB1. This study elucidates few potential colorectal cancer biomarkers, specifically KDR, PTEN, FBXW7 and SMAD4, which are found mutated in more than 10 % patients.

  2. [Using IRAP markers for analysis of genetic variability in populations of resource and rare species of plants].

    Science.gov (United States)

    Boronnikova, S V; Kalendar', R N

    2010-01-01

    Species-specific LTR retrotransposons were first cloned in five rare relic species of drug plants located in the Perm' region. Sequences of LTR retrotransposons were used for PCR analysis based on amplification of repeated sequences from LTR or other sites of retrotransposons (IRAP). Genetic diversity was studied in six populations of rare relic species of plants Adonis vernalis L. by means of the IRAP method; 125 polymorphic IRAP-markers were analyzed. Parameters for DNA polymorphism and genetic diversity of A. vernalis populations were determined.

  3. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

    Science.gov (United States)

    Petrovski, Slavé; Todd, Jamie L; Durheim, Michael T; Wang, Quanli; Chien, Jason W; Kelly, Fran L; Frankel, Courtney; Mebane, Caroline M; Ren, Zhong; Bridgers, Joshua; Urban, Thomas J; Malone, Colin D; Finlen Copeland, Ashley; Brinkley, Christie; Allen, Andrew S; O'Riordan, Thomas; McHutchison, John G; Palmer, Scott M; Goldstein, David B

    2017-07-01

    Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. The aim of this study was to use whole-exome sequencing to improve understanding of the genetic architecture of pulmonary fibrosis. We performed a case-control exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis clinically classified as IPF according to American Thoracic Society/European Respiratory Society/Japanese Respiratory Society/Latin American Thoracic Association guidelines (81.3%), usual interstitial pneumonia secondary to autoimmune conditions (11.5%), or fibrosing nonspecific interstitial pneumonia (7.2%). The majority (87%) of case subjects reported no family history of pulmonary fibrosis. We searched 18,668 protein-coding genes for an excess of rare deleterious genetic variation using whole-exome sequence data from 262 case subjects with pulmonary fibrosis and 4,141 control subjects drawn from among a set of individuals of European ancestry. Comparing genetic variation across 18,668 protein-coding genes, we found a study-wide significant (P RTEL1, and PARN. A model qualifying ultrarare, deleterious, nonsynonymous variants implicated TERT and RTEL1, and a model specifically qualifying loss-of-function variants implicated RTEL1 and PARN. A subanalysis of 186 case subjects with sporadic IPF confirmed TERT, RTEL1, and PARN as study-wide significant contributors to sporadic IPF. Collectively, 11.3% of case subjects with sporadic IPF carried a qualifying variant in one of these three genes compared with the 0.3% carrier rate observed among control subjects (odds ratio, 47.7; 95% confidence interval, 21.5-111.6; P = 5.5 × 10 -22 ). We identified TERT, RTEL1, and PARN-three telomere-related genes previously implicated in familial pulmonary fibrosis-as significant contributors to sporadic IPF. These results support the idea that telomere dysfunction is involved in IPF pathogenesis.

  4. Origin of an alternative genetic code in the extremely small and GC-rich genome of a bacterial symbiont.

    Directory of Open Access Journals (Sweden)

    John P McCutcheon

    2009-07-01

    Full Text Available The genetic code relates nucleotide sequence to amino acid sequence and is shared across all organisms, with the rare exceptions of lineages in which one or a few codons have acquired novel assignments. Recoding of UGA from stop to tryptophan has evolved independently in certain reduced bacterial genomes, including those of the mycoplasmas and some mitochondria. Small genomes typically exhibit low guanine plus cytosine (GC content, and this bias in base composition has been proposed to drive UGA Stop to Tryptophan (Stop-->Trp recoding. Using a combination of genome sequencing and high-throughput proteomics, we show that an alpha-Proteobacterial symbiont of cicadas has the unprecedented combination of an extremely small genome (144 kb, a GC-biased base composition (58.4%, and a coding reassignment of UGA Stop-->Trp. Although it is not clear why this tiny genome lacks the low GC content typical of other small bacterial genomes, these observations support a role of genome reduction rather than base composition as a driver of codon reassignment.

  5. Genetic Programming for the Downscaling of Extreme Rainfall Events on the East Coast of Peninsular Malaysia

    Directory of Open Access Journals (Sweden)

    Sahar Hadi Pour

    2014-11-01

    Full Text Available A genetic programming (GP-based logistic regression method is proposed in the present study for the downscaling of extreme rainfall indices on the east coast of Peninsular Malaysia, which is considered one of the zones in Malaysia most vulnerable to climate change. A National Centre for Environmental Prediction reanalysis dataset at 42 grid points surrounding the study area was used to select the predictors. GP models were developed for the downscaling of three extreme rainfall indices: days with larger than or equal to the 90th percentile of rainfall during the north-east monsoon; consecutive wet days; and consecutive dry days in a year. Daily rainfall data for the time periods 1961–1990 and 1991–2000 were used for the calibration and validation of models, respectively. The results are compared with those obtained using the multilayer perceptron neural network (ANN and linear regression-based statistical downscaling model (SDSM. It was found that models derived using GP can predict both annual and seasonal extreme rainfall indices more accurately compared to ANN and SDSM.

  6. PhenomeCentral: An Integrated Portal for Sharing and Searching Patient Phenotype Data for Rare Genetic Disorders.

    OpenAIRE

    Brudno, Michael; Girdea, Marta; Dumitriu, Sergiu; Buske, Orion; Köhler, Sebastian; Robinson, Peter N.; Brookes, Andrew J.; Boycott, Kym; Boerkoel, Cornelius F.; Gahl, William A.; CARE RARE, Canadian for Consortium; NIH, Undiagnosed Diseases Program

    2014-01-01

    The availability of low-cost genome sequencing has allowed for the identification of the molecular cause of hundreds of rare genetic disorders. Solved disorders, however, only represent the “tip of the iceberg”. Because the discovery of disease-causing variants typically requires confirmation of the mutation or gene in multiple unrelated individuals, an even larger number of genetic disorders remain unsolved due to difficulty identifying second families. With many groups now tackling these re...

  7. The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

    NARCIS (Netherlands)

    Geerlings, M.J.; Jong, E.K.; Hollander, A.I. den

    2017-01-01

    Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have found both common and rare genetic variants in the complement pathway to play a role in the pathogenesis of AMD. In this review we provide an

  8. Population genetic analysis reveals barriers and corridors for gene flow within and among riparian populations of a rare plant.

    Science.gov (United States)

    Hevroy, Tanya H; Moody, Michael L; Krauss, Siegfried L

    2018-02-01

    Landscape features and life-history traits affect gene flow, migration and drift to impact on spatial genetic structure of species. Understanding this is important for managing genetic diversity of threatened species. This study assessed the spatial genetic structure of the rare riparian Grevillea sp. Cooljarloo (Proteaceae), which is restricted to a 20 km 2 region impacted by mining in the northern sandplains of the Southwest Australian Floristic Region, an international biodiversity hotspot. Within creek lines and floodplains, the distribution is largely continuous. Models of dispersal within riparian systems were assessed by spatial genetic analyses including population level partitioning of genetic variation and individual Bayesian clustering. High levels of genetic variation and weak isolation by distance within creek line and floodplain populations suggest large effective population sizes and strong connectivity, with little evidence for unidirectional gene flow as might be expected from hydrochory. Regional clustering of creek line populations and strong divergence among creek line populations suggest substantially lower levels of gene flow among creek lines than within creek lines. There was however a surprising amount of genetic admixture in floodplain populations, which could be explained by irregular flooding and/or movements by highly mobile nectar-feeding bird pollinators. Our results highlight that for conservation of rare riparian species, avoiding an impact to hydrodynamic processes, such as water tables and flooding dynamics, may be just as critical as avoiding direct impacts on the number of plants.

  9. Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

    Science.gov (United States)

    Lamiquiz-Moneo, Itziar; Blanco-Torrecilla, Cristian; Bea, Ana M; Mateo-Gallego, Rocío; Pérez-Calahorra, Sofía; Baila-Rueda, Lucía; Cenarro, Ana; Civeira, Fernando; de Castro-Orós, Isabel

    2016-04-23

    Hypertriglyceridemia (HTG) is a common complex metabolic trait that results of the accumulation of relatively common genetic variants in combination with other modifier genes and environmental factors resulting in increased plasma triglyceride (TG) levels. The majority of severe primary hypertriglyceridemias is diagnosed in adulthood and their molecular bases have not been fully defined yet. The prevalence of HTG is highly variable among populations, possibly caused by differences in environmental factors and genetic background. However, the prevalence of very high TG and the frequency of rare mutations causing HTG in a whole non-selected population have not been previously studied. The total of 23,310 subjects over 18 years from a primary care-district in a middle-class area of Zaragoza (Spain) with TG >500 mg/dL were selected to establish HTG prevalence. Those affected of primary HTG were considered for further genetic analysis. The promoters, coding regions and exon-intron boundaries of LPL, LMF1, APOC2, APOA5, APOE and GPIHBP1 genes were sequenced. The frequency of rare variants identified was studied in 90 controls. One hundred ninety-four subjects (1.04%) had HTG and 90 subjects (46.4%) met the inclusion criteria for primary HTG. In this subgroup, nine patients (12.3%) were carriers of 7 rare variants in LPL, LMF1, APOA5, GPIHBP1 or APOE genes. Three of these mutations are described for the first time in this work. The presence of a rare pathogenic mutation did not confer a differential phenotype or a higher family history of HTG. The prevalence of rare mutations in candidate genes in subjects with primary HTG is low. The low frequency of rare mutations, the absence of a more severe phenotype or the dominant transmission of the HTG would not suggest the use of genetic analysis in the clinical practice in this population.

  10. Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan.

    Science.gov (United States)

    Weng, Hsin-Ju; Niu, Dau-Ming; Turale, Sue; Tsao, Lee-Ing; Shih, Fu-Jong; Yamamoto-Mitani, Noriko; Chang, Chun-Chi; Shih, Fu-Jin

    2012-01-01

    To extend nursing knowledge of distress experienced by family caregivers of children with rare genetic disorders, by exploring the perspectives of caregivers of children with Russell-Silver Syndrome in Taiwan. Caring for a child with a rare genetic disorder often has profound effects on families, especially when diagnosis and treatment is complex or not yet well developed, such as that in Russell-Silver Syndrome (or Silver-Russell syndrome). This disorder causes dwarfism and developmental difficulties, requiring long-term care planning. Previous research has focused mostly on medical care, but little is known about families' perspectives of caring difficulties, the help they need and nursing care required. An exploratory qualitative approach was used to inform this study. Family caregivers, whose children were undergoing medical care in a leading Taiwan medical centre, were invited to participate in face-to-face, in-depth interviews. Data were analysed by content analysis. Fifteen caregivers including 11 mothers, two fathers and two grandmothers participated. Five major themes and 13 sub-themes of care-giving distress were identified: endless psychological worries; the lengthy process to confirm a medical diagnosis; adjustment efforts in modifying family roles; dilemmas in deciding between Western or Chinese traditional medicine; and negative responses to society's concerns. Their primary sources of support were spouses, parents and health professionals, accordingly. Complex physio-psycho-social and decision-making distress in caring for children with a rare genetic disorder were systematically revealed from the perspectives of ethnic-Chinese family caregivers. Long-term care plans for children with a rare genetic disorder such as Russell-Silver Syndrome need to focus on positive dynamic family interactions, life-stage development and family caregiver support. Research on care-giving in rare genetic disorders is also warranted across cultures and countries to

  11. Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility.

    Science.gov (United States)

    González-Peñas, Javier; Arrojo, Manuel; Paz, Eduardo; Brenlla, Julio; Páramo, Mario; Costas, Javier

    2015-10-01

    Schizophrenia may be considered a human-specific disorder arisen as a maladaptive by-product of human-specific brain evolution. Therefore, genetic variants involved in susceptibility to schizophrenia may be identified among those genes related to acquisition of human-specific traits. NPAS3, a transcription factor involved in central nervous system development and neurogenesis, seems to be implicated in the evolution of human brain, as it is the human gene with most human-specific accelerated elements (HAEs), i.e., .mammalian conserved regulatory sequences with accelerated evolution in the lineage leading to humans after human-chimpanzee split. We hypothesize that any nucleotide variant at the NPAS3 HAEs may lead to altered susceptibility to schizophrenia. Twenty-one variants at these HAEs detected by the 1000 genomes Project, as well as five additional variants taken from psychiatric genome-wide association studies, were genotyped in 538 schizophrenic patients and 539 controls from Galicia. Analyses at the haplotype level or based on the cumulative role of the variants assuming different susceptibility models did not find any significant association in spite of enough power under several plausible scenarios regarding direction of effect and the specific role of rare and common variants. These results suggest that, contrary to our hypothesis, the special evolution of the NPAS3 HAEs in Homo relaxed the strong constraint on sequence that characterized these regions during mammalian evolution, allowing some sequence changes without any effect on schizophrenia risk. © 2015 Wiley Periodicals, Inc.

  12. Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?

    Directory of Open Access Journals (Sweden)

    Miny Peter

    2011-08-01

    Full Text Available Abstract Ectopic liver is a very uncommon developmental anomaly that predisposes to the development of hepatocellular carcinoma. We describe the second documented case of a hepatocellular carcinoma developing in the primary liver of a patient with a rare and uncharacterized genetic symptom complex. Also present was the largest ectopic liver ever reported, measuring 12 cm in diameter which contained a solitary focus of metastatic hepatocellular carcinoma. The primary hepatocellular carcinoma is believed to have arisen in the native liver from a hepatic adenoma that was diagnosed 15 years earlier. The patient's uncharacterised condition featured prominent thick, yellow skin over the dorsum of the fingers, and was associated with follicular hyperkeratosis, abnormal plantar creases, digital clubbing, misshaped ears, a lingua plicata and an angioleiomyolipoma of the right kidney. This unique case of hepatocellular carcinoma arising from liver cell adenoma in a patient with an uncharacterised condition featuring a large ectopic liver invites discussion of the role of local factors in carcinogenesis in the parent liver but not the ectopic liver. It also underlines the imperative ongoing need for clinical autopsies.

  13. Reproduction at the extremes: pseudovivipary, hybridization and genetic mosaicism in Posidonia australis (Posidoniaceae).

    Science.gov (United States)

    Sinclair, Elizabeth A; Statton, John; Hovey, Renae; Anthony, Janet M; Dixon, Kingsley W; Kendrick, Gary A

    2016-02-01

    Organisms occupying the edges of natural geographical ranges usually survive at the extreme limits of their innate physiological tolerances. Extreme and prolonged fluctuations in environmental conditions, often associated with climate change and exacerbated at species' geographical range edges, are known to trigger alternative responses in reproduction. This study reports the first observations of adventitious inflorescence-derived plantlet formation in the marine angiosperm Posidonia australis, growing at the northern range edge (upper thermal and salinity tolerance) in Shark Bay, Western Australia. These novel plantlets are described and a combination of microsatellite DNA markers and flow cytometry is used to determine their origin. Polymorphic microsatellite DNA markers were used to generate multilocus genotypes to determine the origin of the adventitious inflorescence-derived plantlets. Ploidy and genome size were estimated using flow cytometry. All adventitious plantlets were genetically identical to the maternal plant and were therefore the product of a novel pseudoviviparous reproductive event. It was found that 87 % of the multilocus genotypes contained three alleles in at least one locus. Ploidy was identical in all sampled plants. The genome size (2 C value) for samples from Shark Bay and from a separate site much further south was not significantly different, implying they are the same ploidy level and ruling out a complete genome duplication (polyploidy). Survival at range edges often sees the development of novel responses in the struggle for survival and reproduction. This study documents a physiological response at the trailing edge, whereby reproductive strategy can adapt to fluctuating conditions and suggests that the lower-than-usual water temperature triggered unfertilized inflorescences to 'switch' to growing plantlets that were adventitious clones of their maternal parent. This may have important long-term implications as both genetic and

  14. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

    Science.gov (United States)

    Claustres, Mireille; Thèze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie-Pierre; Dugueperoux, Ingrid; Férec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Véronique; Bieth, Eric; Malinge, Marie-Claire; Reboul, Marie-Pierre; Fergelot, Patricia; Lemonnier, Lydie; Mekki, Chadia; Fanen, Pascale; Bergougnoux, Anne; Sasorith, Souphatta; Raynal, Caroline; Bareil, Corinne

    2017-10-01

    Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes. For each of the 736 different variants reported in the database, patient characteristics and genetic information (other variations in cis or in trans) have been thoroughly checked by a dedicated curator. Combining updated clinical, epidemiological, in silico, or in vitro functional data helps to the interpretation of unclassified and the reassessment of misclassified variants. This comprehensive CFTR database is now an invaluable tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counseling, prenatal and preimplantation genetic diagnosis. CFTR-France is thus highly complementary to the international database CFTR2 focused so far on the most common CF-causing alleles. © 2017 Wiley Periodicals, Inc.

  15. Insertion sequences enrichment in extreme Red sea brine pool vent

    KAUST Repository

    Elbehery, Ali H. A.; Aziz, Ramy K.; Siam, Rania

    2016-01-01

    Mobile genetic elements are major agents of genome diversification and evolution. Limited studies addressed their characteristics, including abundance, and role in extreme habitats. One of the rare natural habitats exposed to multiple

  16. The role of genetics in stroke risk factors; the discussion of two rare genetic syndroms associated with stroke and review of the literature

    Directory of Open Access Journals (Sweden)

    Eda Kılıç Çoban

    2015-09-01

    Full Text Available Stroke is defined as a focal or at times global neurological impairment of sudden onset, that lasts more than 24 hours or that leads to death. The nonmodifiable risk factors for stroke include age, race, gender and acquired risk factors include smoking, hypertension, diabetes and obesity. Previous studies have shown that these mentioned risk factors might be responsible for approximately 50% of patients presenting stroke. However for the remaining half of the stroke patients no risk factors could be detected and genetics might be responsible for this group. In this manuscript we would like to present 2 cases who were being followed-up with the rare genetic syndromes as Marfan syndrome and Robinow syndrome respectively. These patients presented to our clinic with stroke and no identifiable risk factors other than these genetic syndromes could be detected. By this case-series we would like to further discuss the relationship between genetic syndromes and stroke.

  17. Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

    Directory of Open Access Journals (Sweden)

    Stefan Coassin

    2010-12-01

    Full Text Available Recent studies demonstrated a strong influence of rare genetic variants on several lipid-related traits. However, their impact on free fatty acid (FFA plasma concentrations, as well as the role of rare variants in a general population, has not yet been thoroughly addressed. The adipose triglyceride lipase (ATGL is encoded by the PNPLA2 gene and catalyzes the rate-limiting step of lipolysis. It represents a prominent candidate gene affecting FFA concentrations. We therefore screened the full genomic region of ATGL for mutations in 1,473 randomly selected individuals from the SAPHIR (Salzburg Atherosclerosis Prevention program in subjects at High Individual Risk Study using a combined Ecotilling and sequencing approach and functionally investigated all detected protein variants by in-vitro studies. We observed 55 novel mostly rare genetic variants in this general population sample. Biochemical evaluation of all non-synonymous variants demonstrated the presence of several mutated but mostly still functional ATGL alleles with largely varying residual lipolytic activity. About one-quarter (3 out of 13 of the investigated variants presented a marked decrease or total loss of catalytic function. Genetic association studies using both continuous and dichotomous approaches showed a shift towards lower plasma FFA concentrations for rare variant carriers and an accumulation of variants in the lower 10%-quantile of the FFA distribution. However, the generally rather small effects suggest either only a secondary role of rare ATGL variants on the FFA levels in the SAPHIR population or a recessive action of ATGL variants. In contrast to these rather small effects, we describe here also the first patient with "neutral lipid storage disease with myopathy" (NLSDM with a point mutation in the catalytic dyad, but otherwise intact protein.

  18. The opposite end of the attention deficit hyperactivity disorder continuum: genetic and environmental aetiologies of extremely low ADHD traits.

    Science.gov (United States)

    Greven, Corina U; Merwood, Andrew; van der Meer, Jolanda M J; Haworth, Claire M A; Rommelse, Nanda; Buitelaar, Jan K

    2016-04-01

    Although attention deficit hyperactivity disorder (ADHD) is thought to reflect a continuously distributed quantitative trait, it is assessed through binary diagnosis or skewed measures biased towards its high, symptomatic extreme. A growing trend is to study the positive tail of normally distributed traits, a promising avenue, for example, to study high intelligence to increase power for gene-hunting for intelligence. However, the emergence of such a 'positive genetics' model has been tempered for ADHD due to poor phenotypic resolution at the low extreme. Overcoming this methodological limitation, we conduct the first study to assess the aetiologies of low extreme ADHD traits. In a population-representative sample of 2,143 twins, the Strength and Weaknesses of ADHD Symptoms and Normal behaviour (SWAN) questionnaire was used to assess ADHD traits on a continuum from low to high. Aetiological influences on extreme ADHD traits were estimated using DeFries-Fulker extremes analysis. ADHD traits were related to behavioural, cognitive and home environmental outcomes using regression. Low extreme ADHD traits were significantly influenced by shared environmental factors (23-35%) but were not significantly heritable. In contrast, high-extreme ADHD traits showed significant heritability (39-51%) but no shared environmental influences. Compared to individuals with high extreme or with average levels of ADHD traits, individuals with low extreme ADHD traits showed fewer internalizing and externalizing behaviour problems, better cognitive performance and more positive behaviours and positive home environmental outcomes. Shared environmental influences on low extreme ADHD traits may reflect passive gene-environment correlation, which arises because parents provide environments as well as passing on genes. Studying the low extreme opens new avenues to study mechanisms underlying previously neglected positive behaviours. This is different from the current deficit-based model of

  19. Addressing challenges in the diagnosis and treatment of rare genetic diseases.

    Science.gov (United States)

    Boycott, Kym M; Ardigó, Diego

    2018-03-01

    The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of diagnosable but nevertheless untreatable disorders. Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.

  20. Mandelbrot's Extremism

    NARCIS (Netherlands)

    Beirlant, J.; Schoutens, W.; Segers, J.J.J.

    2004-01-01

    In the sixties Mandelbrot already showed that extreme price swings are more likely than some of us think or incorporate in our models.A modern toolbox for analyzing such rare events can be found in the field of extreme value theory.At the core of extreme value theory lies the modelling of maxima

  1. Can the reproductive system of a rare and narrowly endemic plant species explain its high genetic diversity?

    Directory of Open Access Journals (Sweden)

    Daniele M. Rodrigues

    2018-01-01

    Full Text Available ABSTRACT The reproductive system of flowering plants can be highly variable, affecting their biology, gene flow and genetic variability among populations. Petunia secreta is a rare annual endemic species of Pedra do Segredo, located in the municipality of Caçapava do Sul, state of Rio Grande do Sul, Brazil. Although rare, the species possesses a high level of genetic variability. We investigated the reproductive system of P. secreta, including fruit production and seed germinability, in order to determine if its reproductive system can explain its genetic diversity. We sampled five populations and conducted five greenhouse hand-pollination treatments: 1 autonomous apomixis; 2 self-pollination; 3 hand self-pollination; 4 geitonogamy; and 5 cross-pollination. We analysed a total of 40 plants, 468 flowers, and 6,500 seeds. Only autonomous apomixis and self-pollination did not produce fruit. No differences in fruit weight were observed among pollination treatments (P > 0.05. Seeds of two colours were produced, with no differences in germinability. Considering all plants, populations, and treatments, the average germinability was 73 % (range 9 % to 100 %. These results, along with other previous studies, indicate that the reproductive systems of P. secreta, and its large effective population size, can explain its high genetic diversity.

  2. Mobile genetic elements, a key to microbial adaptation in extreme environments

    Science.gov (United States)

    van Houdt, Rob; Mijnendonckx, Kristel; Provoost, Ann; Monsieurs, Pieter; Mergeay, Max; Leys, Natalie

    hydrogenotrophy. Five transposons were identified in CH34. Two mercury transposons Tn4378 and Tn4380, respectively located on pMOL28 and pMOL30, were previously described. In addition, 3 novel transposons were identified. The large Tn6048 transposon contained 8 genes highly induced by zinc and lead. Transposon Tn6049 was found in twelve copies in the genome of strain CH34 and is seem-ingly often associated with genomic islands. Finally, Tn6050 was observed twice in the second chromosome with accessory genes not classically associated with transposons, namely a sulfate permease, a universal stress protein (UspA) and a DksA-like DnaK suppressor protein. The role of these genes is unclear but a functional association could be assumed. Finally, a set of 21 IS elements was found, counting in total for 57 copies dispersed over the genome. The number of copies ranged from 1 to 9 (IS1088 ) and 10 (ISRme3 ). The 21 IS elements could be divided into 10 different families. The elements ISRme5 and IS1071 were putatively involved in the recruitment of the genes for hydrogenotrophy and CO2 fixation, with mutants unable to grow on H2 and CO2 appeared to have lost these genes by IS1071 -mediated excision. These data clearly showed that the C. metallidurans CH34 model bacterium and some of it's Cupriavidus and Ralstonia relatives carry a multitude of tools that allowed them to genetically adapt to polluted and extreme soil environments, and that are a key in their success to adapt to the new anthropogenic spacecraft environments. Furthermore, these tools could be exploited to assess and measure genetic effects of spaceflight conditions. Acknowledgements This work was supported by the European Space Agency (ESA-PRODEX) and the Belgian Science Policy (Belspo) through the MISSEX and COMICS projects.

  3. The relationship between species diversity and genetic structure in the rare Picea chihuahuana tree species community, Mexico.

    Science.gov (United States)

    Simental-Rodríguez, Sergio Leonel; Quiñones-Pérez, Carmen Zulema; Moya, Daniel; Hernández-Tecles, Enrique; López-Sánchez, Carlos Antonio; Wehenkel, Christian

    2014-01-01

    Species diversity and genetic diversity, the most basic elements of biodiversity, have long been treated as separate topics, although populations evolve within a community context. Recent studies on community genetics and ecology have suggested that genetic diversity is not completely independent of species diversity. The Mexican Picea chihuahuana Martínez is an endemic species listed as "Endangered" on the Red List. Forty populations of Chihuahua spruce have been identified. This species is often associated with tree species of eight genera in gallery forests. This rare Picea chihuahuana tree community covers an area no more than 300 ha and has been subject of several studies involving different topics such as ecology, genetic structure and climate change. The overall aim of these studies was to obtain a dataset for developing management tools to help decision makers implement preservation and conservation strategies. However, this unique forest tree community may also represent an excellent subject for helping us to understand the interplay between ecological and evolutionary processes in determining community structure and dynamics. The AFLP technique and species composition data were used together to test the hypothesis that species diversity is related to the adaptive genetic structure of some dominant tree species (Picea chihuahuana, Pinus strobiformis, Pseudotsuga menziesii and Populus tremuloides) of the Picea chihuahuana tree community at fourteen locations. The Hill numbers were used as a diversity measure. The results revealed a significant correlation between tree species diversity and genetic structure in Populus tremuloides. Because the relationship between the two levels of diversity was found to be positive for the putative adaptive AFLP detected, genetic and species structures of the tree community were possibly simultaneously adapted to a combination of ecological or environmental factors. The present findings indicate that interactions between

  4. Cryptic diversity and population genetic structure in the rare, endemic, forest-obligate, slender geckos of the Philippines.

    Science.gov (United States)

    Siler, Cameron D; Dececchi, T Alex; Merkord, Chris L; Davis, Drew R; Christiani, Tony J; Brown, Rafe M

    2014-01-01

    Recent studies of forest lizards in Southeast Asia have highlighted spectacular morphological and cryptic genetic diversity in several poorly known clades. Unfortunately, many of the included species have microhabitat preferences for forested environments, and therefore they are threatened by extensive forest destruction throughout the region. This is particularly true in the Philippines, an archipelago with a strikingly high proportion (84%) of endemic geckos. Abundances inferred from historical museum collections suggests that we are in a critical period where apparent declines in population viability and species' abundance have taken place faster than the growth in our understanding of alpha diversity. This phenomenon is exemplified in the exceedingly rare Philippine slender forest geckos of the genus Pseudogekko. Most of the known species are rarely encountered by field biologists, and species boundaries are unclear; this poor state of knowledge impedes effective conservation measures. Using the first multilocus phylogeny for these taxa, and phylogenetic and population genetic approaches, we elucidate evolutionary lineages and delimit species-level conservation targets in this unique radiation of endemic Philippine geckos. The results support the presence of widespread cryptic diversity in the genus, providing a framework for the re-evaluation of conservation priorities aimed at protecting these rare, forest-obligate species. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.

    Directory of Open Access Journals (Sweden)

    Douglas R Smith

    Full Text Available Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1, were found to be significantly associated with pain sensitivity (especially migraine, sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants. Similarly, heterozygous rare variants in DAGLA, which encodes diacylglycerol lipase alpha, were found to be significantly associated with seizures and neurodevelopmental disorders, including autism and abnormalities of brain morphology, compared to controls. Rare variants in MGLL, FAAH and CNR2 were not associated with any neurological phenotypes in the patients tested. Diacylglycerol lipase alpha synthesizes the endocannabinoid 2-AG in the brain, which interacts with CB1 receptors. The phenotypes associated with rare CNR1 variants are reminiscent of those implicated in the theory of clinical endocannabinoid deficiency syndrome. The severe phenotypes associated with rare DAGLA variants underscore the critical role of rapid 2-AG synthesis and the endocannabinoid system in regulating neurological function and development. Mapping of the variants to the 3D structure of the type 1 cannabinoid receptor, or primary structure of diacylglycerol lipase alpha, reveals clustering of variants in certain structural regions and is consistent with impacts to function.

  6. Genetics of rare mesenchymal tumors: implications for targeted treatment in DFSP, ASPS, CCS, GCTB and PEComa.

    Science.gov (United States)

    Rutkowski, Piotr; Przybył, Joanna; Świtaj, Tomasz

    2014-08-01

    Soft tissue and bone sarcomas comprise a heterogeneous group of mesenchymal tumors that include roughly 130 distinct diagnostic entities. Many of them are exceptionally rare, with only few cases diagnosed worldwide each year. Development of novel targeted treatment in this group of tumors is of special importance since many sarcoma subtypes are resistant to conventional chemotherapy and the effective therapeutic options are limited. In this review we aim to discuss the molecular implications for targeted therapy in selected rare soft tissue and bone sarcoma subtypes, including dermatofibrosarcoma protuberans (DFSP), alveolar soft part sarcoma (ASPS), clear cell sarcoma (CCS), giant cell tumor of bone (GCTB) and perivascular epithelioid cell neoplasms (PEComas). This article is part of a Directed Issue entitled: Rare cancers. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Population genetic structure of rare and endangered plants using molecular markers

    Science.gov (United States)

    Raji, Jennifer; Atkinson, Carter T.

    2013-01-01

    This study was initiated to assess the levels of genetic diversity and differentiation in the remaining populations of Phyllostegia stachyoides and Melicope zahlbruckneri in Hawai`i Volcanoes National Park and determine the extent of gene flow to identify genetically distinct individuals or groups for conservation purposes. Thirty-six Amplified Fragment Length Polymorphic (AFLP) primer combinations generated a total of 3,242 polymorphic deoxyribonucleic acid (DNA) fragments in the P. stachyoides population with a percentage of polymorphic bands (PPB) ranging from 39.3 to 65.7% and 2,780 for the M. zahlbruckneri population with a PPB of 18.8 to 64.6%. Population differentiation (Fst) of AFLP loci between subpopulations of P. stachyoides was low (0.043) across populations. Analysis of molecular variance of P. stachyoides showed that 4% of the observed genetic differentiation occurred between populations in different kīpuka and 96% when individuals were pooled from all kīpuka. Moderate genetic diversity was detected within the M. zahlbruckneri population. Bayesian and multivariate analyses both classified the P. stachyoides and M. zahlbruckneri populations into genetic groups with considerable sub-structuring detected in the P. stachyoides population. The proportion of genetic differentiation among populations explained by geographical distance was estimated by Mantel tests. No spatial correlation was found between genetic and geographic distances in both populations. Finally, a moderate but significant gene flow that could be attributed to insect or bird-mediated dispersal of pollen across the different kīpuka was observed. The results of this study highlight the utility of a multi-allelic DNA-based marker in screening a large number of polymorphic loci in small and closely related endangered populations and revealed the presence of genetically unique groups of individuals in both M. zahlbruckneri and P. stachyoides populations. Based on these findings

  8. Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

    Directory of Open Access Journals (Sweden)

    Stefan Taudien

    2016-10-01

    Sepsis patients with favorable disease course after sepsis, even in the case of unfavorable preconditions, seem to be affected more often by rare deleterious SNVs in cell signaling and innate immunity related pathways, suggesting a protective role of impairments in these processes against a poor disease course.

  9. Comparative analysis of riverscape genetic structure in rare, threatened and common freshwater mussels

    Science.gov (United States)

    Galbraith, Heather S.; Zanatta, David T.; Wilson, Chris C.

    2015-01-01

    Freshwater mussels (Bivalvia: Unionoida) are highly imperiled with many species on the verge of local extirpation or global extinction. This study investigates patterns of genetic structure and diversity in six species of freshwater mussels in the central Great Lakes region of Ontario, Canada. These species vary in their conservation status (endangered to not considered at risk), life history strategy, and dispersal capabilities. Evidence of historical genetic connectivity within rivers was ubiquitous across species and may reflect dispersal abilities of host fish. There was little to no signature of recent disturbance events or bottlenecks, even in endangered species, likely as a function of mussel longevity and historical population sizes (i.e., insufficient time for genetic drift to be detectable). Genetic structure was largely at the watershed scale suggesting that population augmentation via translocation within rivers may be a useful conservation tool if needed, while minimizing genetic risks to recipient sites. Recent interest in population augmentation via translocation and propagation may rely on these results to inform management of unionids in the Great Lakes region.

  10. The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

    Science.gov (United States)

    Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

    2009-01-01

    Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

  11. Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.

    Science.gov (United States)

    De Summa, Simona; Guida, Michele; Tommasi, Stefania; Strippoli, Sabino; Pellegrini, Cristina; Fargnoli, Maria Concetta; Pilato, Brunella; Natalicchio, Iole; Guida, Gabriella; Pinto, Rosamaria

    2017-05-02

    Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.From the analysis of the pedigree, we were able to identify a "protective" haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model.

  12. Extreme genetic structure in a social bird species despite high dispersal capacity.

    Science.gov (United States)

    Morinha, Francisco; Dávila, José A; Bastos, Estela; Cabral, João A; Frías, Óscar; González, José L; Travassos, Paulo; Carvalho, Diogo; Milá, Borja; Blanco, Guillermo

    2017-05-01

    Social barriers have been shown to reduce gene flow and contribute to genetic structure among populations in species with high cognitive capacity and complex societies, such as cetaceans, apes and humans. In birds, high dispersal capacity is thought to prevent population divergence unless major geographical or habitat barriers induce isolation patterns by dispersal, colonization or adaptation limitation. We report that Iberian populations of the red-billed chough, a social, gregarious corvid with high dispersal capacity, show a striking degree of genetic structure composed of at least 15 distinct genetic units. Monitoring of marked individuals over 30 years revealed that long-distance movements over hundreds of kilometres are common, yet recruitment into breeding populations is infrequent and highly philopatric. Genetic differentiation is weakly related to geographical distance, and habitat types used are overall qualitatively similar among regions and regularly shared by individuals of different populations, so that genetic structure is unlikely to be due solely to isolation by distance or isolation by adaptation. Moreover, most population nuclei showed relatively high levels of genetic diversity, suggesting a limited role for genetic drift in significantly differentiating populations. We propose that social mechanisms may underlie this unprecedented level of genetic structure in birds through a pattern of isolation by social barriers not yet described, which may have driven this remarkable population divergence in the absence of geographical and environmental barriers. © 2017 John Wiley & Sons Ltd.

  13. Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

    Science.gov (United States)

    Bonàs-Guarch, Sílvia; Guindo-Martínez, Marta; Miguel-Escalada, Irene; Grarup, Niels; Sebastian, David; Rodriguez-Fos, Elias; Sánchez, Friman; Planas-Fèlix, Mercè; Cortes-Sánchez, Paula; González, Santi; Timshel, Pascal; Pers, Tune H; Morgan, Claire C; Moran, Ignasi; Atla, Goutham; González, Juan R; Puiggros, Montserrat; Martí, Jonathan; Andersson, Ehm A; Díaz, Carlos; Badia, Rosa M; Udler, Miriam; Leong, Aaron; Kaur, Varindepal; Flannick, Jason; Jørgensen, Torben; Linneberg, Allan; Jørgensen, Marit E; Witte, Daniel R; Christensen, Cramer; Brandslund, Ivan; Appel, Emil V; Scott, Robert A; Luan, Jian'an; Langenberg, Claudia; Wareham, Nicholas J; Pedersen, Oluf; Zorzano, Antonio; Florez, Jose C; Hansen, Torben; Ferrer, Jorge; Mercader, Josep Maria; Torrents, David

    2018-01-22

    The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. Beyond providing insights into the genetics and pathophysiology of T2D, these results also underscore the value of reanalyzing publicly available data using novel genetic resources and analytical approaches.

  14. A model for genetic and epigenetic regulatory networks identifies rare pathways for transcription factor induced pluripotency

    Science.gov (United States)

    Artyomov, Maxim; Meissner, Alex; Chakraborty, Arup

    2010-03-01

    Most cells in an organism have the same DNA. Yet, different cell types express different proteins and carry out different functions. This is because of epigenetic differences; i.e., DNA in different cell types is packaged distinctly, making it hard to express certain genes while facilitating the expression of others. During development, upon receipt of appropriate cues, pluripotent embryonic stem cells differentiate into diverse cell types that make up the organism (e.g., a human). There has long been an effort to make this process go backward -- i.e., reprogram a differentiated cell (e.g., a skin cell) to pluripotent status. Recently, this has been achieved by transfecting certain transcription factors into differentiated cells. This method does not use embryonic material and promises the development of patient-specific regenerative medicine, but it is inefficient. The mechanisms that make reprogramming rare, or even possible, are poorly understood. We have developed the first computational model of transcription factor-induced reprogramming. Results obtained from the model are consistent with diverse observations, and identify the rare pathways that allow reprogramming to occur. If validated, our model could be further developed to design optimal strategies for reprogramming and shed light on basic questions in biology.

  15. Insulin receptor degradation is accelerated in cultured lymphocytes from patients with genetic syndromes of extreme insulin resistance

    International Nuclear Information System (INIS)

    McElduff, A.; Hedo, J.A.; Taylor, S.I.; Roth, J.; Gorden, P.

    1984-01-01

    The insulin receptor degradation rate was examined in B lymphocytes that were obtained from peripheral blood of normal subjects and patients with several syndromes of extreme insulin resistance. The insulin receptors were surface labeled using Na 125 I/lactoperoxidase and the cells were returned to incubate in growth media. After varying periods of incubation, aliquots of cells were solubilized and the cell content of labeled receptor subunits were measured by immunoprecipitation with anti-receptor antibodies and NaDodSO4/polyacrylamide gel electrophoresis. In cell lines from four patients in whom the number of insulin receptors was reduced by greater than 90%, the rate of receptor loss was greater than normal (t1/2 equals 3.8 +/- 0.9 h vs. 6.5 +/- 1.2 h; mean +/- SD, P less than 0.01). However, a similar acceleration in receptor degradation was seen in cells from five patients with extreme insulin resistance but low-normal insulin receptor concentration (t1/2 equals 4.4 +/- 0.9 h). Thus, all the patients with genetic syndromes of insulin resistance had accelerated receptor degradation, regardless of their receptor concentration. By contrast, insulin receptors on cultured lymphocytes that were obtained from patients with extreme insulin resistance secondary to autoantibodies to the insulin receptor had normal receptor degradation (t1/2 equals 6.1 +/- 1.9 h). We conclude that (a) accelerated insulin receptor degradation is an additional feature of cells from patients with genetic forms of insulin resistance; (b) that accelerated insulin receptor degradation may explain the low-normal receptor concentrations that were seen in some patients with extreme insulin resistance; and (c) that accelerated degradation does not explain the decreased receptor concentration in patients with very low insulin receptor binding and, therefore, by inference, a defect in receptor synthesis must be present in this subgroup

  16. [Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].

    Science.gov (United States)

    Qin, Shengfang; Wang, Xueyan; Li, Yunxing; Wei, Ping; Chen, Chun; Zeng, Lan

    2016-02-01

    To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9. The karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH). The karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man. The phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

  17. Extremely Low Genetic Diversity Indicating the Endangered Status of Ranodon sibiricus (Amphibia: Caudata) and Implications for Phylogeography

    Science.gov (United States)

    Wang, Xiu-Ling; Sun, Jian-Yun; Xue, Yan; Zhang, Peng; Zhou, Hui; Qu, Liang-Hu

    2012-01-01

    Background The Siberian salamander (Ranodon sibiricus), distributed in geographically isolated areas of Central Asia, is an ideal alpine species for studies of conservation and phylogeography. However, there are few data regarding the genetic diversity in R. sibiricus populations. Methodology/Principal Findings We used two genetic markers (mtDNA and microsatellites) to survey all six populations of R. sibiricus in China. Both of the markers revealed extreme genetic uniformity among these populations. There were only three haplotypes in the mtDNA, and the overall nucleotide diversity in the mtDNA was 0.00064, ranging from 0.00000 to 0.00091 for the six populations. Although we recovered 70 sequences containing microsatellite repeats, there were only two loci that displayed polymorphism. We used the approximate Bayesian computation (ABC) method to study the demographic history of the populations. This analysis suggested that the extant populations diverged from the ancestral population approximately 120 years ago and that the historical population size was much larger than the present population size; i.e., R. sibiricus has experienced dramatic population declines. Conclusion/Significance Our findings suggest that the genetic diversity in the R. sibiricus populations is the lowest among all investigated amphibians. We conclude that the isolation of R. sibiricus populations occurred recently and was a result of recent human activity and/or climatic changes. The Pleistocene glaciation oscillations may have facilitated intraspecies genetic homogeneity rather than enhanced divergence. A low genomic evolutionary rate and elevated inbreeding frequency may have also contributed to the low genetic variation observed in this species. Our findings indicate the urgency of implementing a protection plan for this endangered species. PMID:22428037

  18. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

    Science.gov (United States)

    Aguilar-Martinez, Patricia; Grandchamp, Bernard; Cunat, Séverine; Cadet, Estelle; Blanc, François; Nourrit, Marlène; Lassoued, Kaiss; Schved, Jean-François; Rochette, Jacques

    2011-04-01

    Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6. We performed molecular investigation of the genes implicated in hereditary hemochromatosis in six patients who presented with iron overload but were simple heterozygotes for the HFE C282Y mutation at first genetic testing. Functional impairment of new variants was deduced from computational methods including molecular modeling studies. We identified four rare HFE mutant alleles, three of which have not been previously described. One mutation is a 13-nucleotide deletion in exon 6 (c.1022_1034del13, p.His341_Ala345 > LeufsX119), which is predicted to lead to an elongated and unstable protein. The second one is a substitution of the last nucleotide of exon 2 (c.340G > A, p.Glu114Lys) which modifies the relative solvent accessibility in a loop interface. The third mutation, p.Arg67Cys, also lies in exon 2 and introduces a destabilization of the secondary structure within a loop of the α1 domain. We also found the previously reported c.548T > C (p.Leu183Pro) missense mutation in exon 3. No other known iron genes were mutated. We present an algorithm at the clinical and genetic levels for identifying patients deserving further investigation. Conclusions Our results suggest that additional mutations in HFE may have a clinical impact in C282Y carriers. In conjunction with results from previously described cases we conclude that an elevated transferrin saturation level and elevated hepatic iron index should indicate the utility of searching for further HFE mutations in C282Y heterozygotes prior to other iron gene studies.

  19. Insertion sequences enrichment in extreme Red sea brine pool vent

    KAUST Repository

    Elbehery, Ali H. A.

    2016-12-03

    Mobile genetic elements are major agents of genome diversification and evolution. Limited studies addressed their characteristics, including abundance, and role in extreme habitats. One of the rare natural habitats exposed to multiple-extreme conditions, including high temperature, salinity and concentration of heavy metals, are the Red Sea brine pools. We assessed the abundance and distribution of different mobile genetic elements in four Red Sea brine pools including the world’s largest known multiple-extreme deep-sea environment, the Red Sea Atlantis II Deep. We report a gradient in the abundance of mobile genetic elements, dramatically increasing in the harshest environment of the pool. Additionally, we identified a strong association between the abundance of insertion sequences and extreme conditions, being highest in the harshest and deepest layer of the Red Sea Atlantis II Deep. Our comparative analyses of mobile genetic elements in secluded, extreme and relatively non-extreme environments, suggest that insertion sequences predominantly contribute to polyextremophiles genome plasticity.

  20. Phylogeography and conservation genetics of the rare and relict Bretschneidera sinensis (Akaniaceae).

    Science.gov (United States)

    Wang, Mei-Na; Duan, Lei; Qiao, Qi; Wang, Zheng-Feng; Zimmer, Elizabeth A; Li, Zhong-Chao; Chen, Hong-Feng

    2018-01-01

    Bretschneidera sinensis, a class-I protected wild plant in China, is a relic of the ancient Tertiary tropical flora endemic to Asia. However, little is known about its genetics and phylogeography. To elucidate the current phylogeographic patterns and infer the historical population dynamics of B. sinensis, and to make recommendations for its conservation, three non-coding regions of chloroplast DNA (trnQ-rps16, rps8-rps11, and trnT-trnL) were amplified and sequenced across 256 individuals from 23 populations of B. sinensis, spanning 10 provinces of China. We recognized 13 haplotypes, demonstrating relatively high total haplotype diversity (hT = 0.739). Almost all of the variation existed among populations (98.09%, P units.

  1. Direct detection of common and rare inversion mutations in the genetic diagnosis of severe hemophilia A

    Energy Technology Data Exchange (ETDEWEB)

    Windsor, A.S.; Lillicrap, D.P.; Taylor, S.A.M. [Queen`s Univ., Ontario (Canada)

    1994-09-01

    Approximately 50% of the cases of severe hemophilia A (factor VIII:C < 0.01 units/ml) may be due to gross rearrangements of the factor VIII gene. The mutation involves homologous sequences upstream of the factor VIII locus and within intron 22 in an intrachromosomal recombination, inversion, event. The rearrangements can readily be detected on a Southern blot using a probe that is complementary to sequences from within intron 22. We describe here the analysis of this mutation in 71 severe hemophilia A patients. Thirty two of the patients (45%) showed evidence of a rearrangement. Five different patterns of rearrangements were seen, two of which have previously been described and account for the majority of cases (pattern 1, 70% and pattern 2, 16%). Three other abnormal patterns were observed. The inversion mechanism does not usually result in the loss or gain of any genetic material, but in one patient, in whom a unique rearrangement pattern was observed (pattern 3), we have previously documented a gross deletion which removes exons 1-22 of the factor VII gene as well as sequences 5{prime} to the gene. In another individual a fourth pattern in which an extra 19.0 kb band is present was detected. In this case it is unclear as to whether the rearrangement is responsible for the disease or is simply coincident normal variation. A fifth pattern, in which an extra 16.0 kb band was detected, was observed in a family with a new mutation causing hemophilia A. The affected individual and his mother inherited a de novo rearrangement of the factor VIII gene from his unaffected grandfather, implicating it as the cause of the disease. In conclusion, testing for the factor VIII inversion mutation was positive in approximately 45% of severe hemophiliacs, 72% of whom were isolated cases, and as such should constitute the initial stage in the genetic testing protocol for these patients` families.

  2. Phylogeography and conservation genetics of the rare and relict Bretschneidera sinensis (Akaniaceae.

    Directory of Open Access Journals (Sweden)

    Mei-Na Wang

    Full Text Available Bretschneidera sinensis, a class-I protected wild plant in China, is a relic of the ancient Tertiary tropical flora endemic to Asia. However, little is known about its genetics and phylogeography. To elucidate the current phylogeographic patterns and infer the historical population dynamics of B. sinensis, and to make recommendations for its conservation, three non-coding regions of chloroplast DNA (trnQ-rps16, rps8-rps11, and trnT-trnL were amplified and sequenced across 256 individuals from 23 populations of B. sinensis, spanning 10 provinces of China. We recognized 13 haplotypes, demonstrating relatively high total haplotype diversity (hT = 0.739. Almost all of the variation existed among populations (98.09%, P < 0.001, but that within populations was low (1.91%, P < 0.001. Strong genetic differentiation was detected among populations (GST = 0.855, P < 0.001 with limited estimations of seed flow (Nm = 0.09, indicating that populations were strongly isolated from one another. According to SAMOVA analysis, populations of B. sinensis in China could be divided into five geographic groups: (1 eastern Yunnan to western Guangxi; (2 Guizhou-Hunan-Hubei; (3 central Guangdong; (4 northwestern Guangdong; and (5 the Luoxiao-Nanling-Wuyi -Yangming Mountain. Network analysis showed that the most ancestral haplotypes were located in the first group, i.e., the eastern Yungui Plateau and in eastern Yunnan, which is regarded as a putative glacial refugia for B. sinensis in China. B. sinensis may have expanded its range eastward from these refugia and experienced bottleneck or founder effects in southeastern China. Populations in Liping (Guizhou Province, Longsheng (Guangxi Province, Huizhou (Guangdong Province, Chongyi (Jiangxi Province, Dong-an (Hunan Province, Pingbian (Yunnan Province and Xinning (Hunan Province are proposed as the priority protection units.

  3. An ultrastructural and immunocytochemical study of a rare genetic sperm tail defect that causes infertility in humans.

    Science.gov (United States)

    Baccetti, Baccio; Bruni, Emanuele; Gambera, Laura; Moretti, Elena; Piomboni, Paola

    2004-08-01

    To characterize and describe the ontogenesis of a rare flagellar defect affecting the whole sperm population of a sterile man. Case report. Regional referral center for male infertility in Siena, Italy. A 28-year-old man with severe asthenozoospermia. Physical and hormonal assays, semen analysis, and testicular biopsy. Semen samples and testicular biopsies were analyzed by light and transmission electron microscopy; immunocytochemical study with anti-beta-tubulin and anti-AKAP 82 antibodies was performed to detect the presence and distribution of proteins. Ultrastructural analysis of ejaculated spermatozoa and testicular biopsy revealed absence of the fibrous sheath in the principal-piece region of the tail. Fibrous sheath-like structures were observed in cytoplasmic residues and residual bodies released by spermatids in the seminiferous epithelium. Other anomalies observed were supplementary axonemes and mitochondrial helix elongation. These features were confirmed by immunocytochemical staining. This rare sperm tail defect, characterized by absence of the fibrous sheath, presence of supplementary axonemes, and an abnormally elongated midpiece, originates in the seminiferous tubules during spermiogenesis, as detected in testicular biopsy sections. These defects occur in the whole sperm population, and therefore a genetic origin could be suggested.

  4. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

    Science.gov (United States)

    Aung, Tin; Ozaki, Mineo; Lee, Mei Chin; Schlötzer-Schrehardt, Ursula; Thorleifsson, Gudmar; Mizoguchi, Takanori; Igo, Robert P; Haripriya, Aravind; Williams, Susan E; Astakhov, Yury S; Orr, Andrew C; Burdon, Kathryn P; Nakano, Satoko; Mori, Kazuhiko; Abu-Amero, Khaled; Hauser, Michael; Li, Zheng; Prakadeeswari, Gopalakrishnan; Bailey, Jessica N Cooke; Cherecheanu, Alina Popa; Kang, Jae H; Nelson, Sarah; Hayashi, Ken; Manabe, Shin-Ichi; Kazama, Shigeyasu; Zarnowski, Tomasz; Inoue, Kenji; Irkec, Murat; Coca-Prados, Miguel; Sugiyama, Kazuhisa; Järvelä, Irma; Schlottmann, Patricio; Lerner, S Fabian; Lamari, Hasnaa; Nilgün, Yildirim; Bikbov, Mukharram; Park, Ki Ho; Cha, Soon Cheol; Yamashiro, Kenji; Zenteno, Juan C; Jonas, Jost B; Kumar, Rajesh S; Perera, Shamira A; Chan, Anita S Y; Kobakhidze, Nino; George, Ronnie; Vijaya, Lingam; Do, Tan; Edward, Deepak P; de Juan Marcos, Lourdes; Pakravan, Mohammad; Moghimi, Sasan; Ideta, Ryuichi; Bach-Holm, Daniella; Kappelgaard, Per; Wirostko, Barbara; Thomas, Samuel; Gaston, Daniel; Bedard, Karen; Greer, Wenda L; Yang, Zhenglin; Chen, Xueyi; Huang, Lulin; Sang, Jinghong; Jia, Hongyan; Jia, Liyun; Qiao, Chunyan; Zhang, Hui; Liu, Xuyang; Zhao, Bowen; Wang, Ya-Xing; Xu, Liang; Leruez, Stéphanie; Reynier, Pascal; Chichua, George; Tabagari, Sergo; Uebe, Steffen; Zenkel, Matthias; Berner, Daniel; Mossböck, Georg; Weisschuh, Nicole; Hoja, Ursula; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Founti, Panayiota; Chatzikyriakidou, Anthi; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Ghosh, Arkasubhra; Shetty, Rohit; Porporato, Natalia; Saravanan, Vijayan; Venkatesh, Rengaraj; Shivkumar, Chandrashekaran; Kalpana, Narendran; Sarangapani, Sripriya; Kanavi, Mozhgan R; Beni, Afsaneh Naderi; Yazdani, Shahin; Lashay, Alireza; Naderifar, Homa; Khatibi, Nassim; Fea, Antonio; Lavia, Carlo; Dallorto, Laura; Rolle, Teresa; Frezzotti, Paolo; Paoli, Daniela; Salvi, Erika; Manunta, Paolo; Mori, Yosai; Miyata, Kazunori; Higashide, Tomomi; Chihara, Etsuo; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Miyake, Masahiro; Gotoh, Norimoto; Matsuda, Fumihiko; Yoshimura, Nagahisa; Ikeda, Yoko; Ueno, Morio; Sotozono, Chie; Jeoung, Jin Wook; Sagong, Min; Park, Kyu Hyung; Ahn, Jeeyun; Cruz-Aguilar, Marisa; Ezzouhairi, Sidi M; Rafei, Abderrahman; Chong, Yaan Fun; Ng, Xiao Yu; Goh, Shuang Ru; Chen, Yueming; Yong, Victor H K; Khan, Muhammad Imran; Olawoye, Olusola O; Ashaye, Adeyinka O; Ugbede, Idakwo; Onakoya, Adeola; Kizor-Akaraiwe, Nkiru; Teekhasaenee, Chaiwat; Suwan, Yanin; Supakontanasan, Wasu; Okeke, Suhanya; Uche, Nkechi J; Asimadu, Ifeoma; Ayub, Humaira; Akhtar, Farah; Kosior-Jarecka, Ewa; Lukasik, Urszula; Lischinsky, Ignacio; Castro, Vania; Grossmann, Rodolfo Perez; Sunaric Megevand, Gordana; Roy, Sylvain; Dervan, Edward; Silke, Eoin; Rao, Aparna; Sahay, Priti; Fornero, Pablo; Cuello, Osvaldo; Sivori, Delia; Zompa, Tamara; Mills, Richard A; Souzeau, Emmanuelle; Mitchell, Paul; Wang, Jie Jin; Hewitt, Alex W; Coote, Michael; Crowston, Jonathan G; Astakhov, Sergei Y; Akopov, Eugeny L; Emelyanov, Anton; Vysochinskaya, Vera; Kazakbaeva, Gyulli; Fayzrakhmanov, Rinat; Al-Obeidan, Saleh A; Owaidhah, Ohoud; Aljasim, Leyla Ali; Chowbay, Balram; Foo, Jia Nee; Soh, Raphael Q; Sim, Kar Seng; Xie, Zhicheng; Cheong, Augustine W O; Mok, Shi Qi; Soo, Hui Meng; Chen, Xiao Yin; Peh, Su Qin; Heng, Khai Koon; Husain, Rahat; Ho, Su-Ling; Hillmer, Axel M; Cheng, Ching-Yu; Escudero-Domínguez, Francisco A; González-Sarmiento, Rogelio; Martinon-Torres, Frederico; Salas, Antonio; Pathanapitoon, Kessara; Hansapinyo, Linda; Wanichwecharugruang, Boonsong; Kitnarong, Naris; Sakuntabhai, Anavaj; Nguyn, Hip X; Nguyn, Giang T T; Nguyn, Trình V; Zenz, Werner; Binder, Alexander; Klobassa, Daniela S; Hibberd, Martin L; Davila, Sonia; Herms, Stefan; Nöthen, Markus M; Moebus, Susanne; Rautenbach, Robyn M; Ziskind, Ari; Carmichael, Trevor R; Ramsay, Michele; Álvarez, Lydia; García, Montserrat; González-Iglesias, Héctor; Rodríguez-Calvo, Pedro P; Fernández-Vega Cueto, Luis; Oguz, Çilingir; Tamcelik, Nevbahar; Atalay, Eray; Batu, Bilge; Aktas, Dilek; Kasım, Burcu; Wilson, M Roy; Coleman, Anne L; Liu, Yutao; Challa, Pratap; Herndon, Leon; Kuchtey, Rachel W; Kuchtey, John; Curtin, Karen; Chaya, Craig J; Crandall, Alan; Zangwill, Linda M; Wong, Tien Yin; Nakano, Masakazu; Kinoshita, Shigeru; den Hollander, Anneke I; Vesti, Eija; Fingert, John H; Lee, Richard K; Sit, Arthur J; Shingleton, Bradford J; Wang, Ningli; Cusi, Daniele; Qamar, Raheel; Kraft, Peter; Pericak-Vance, Margaret A; Raychaudhuri, Soumya; Heegaard, Steffen; Kivelä, Tero; Reis, André; Kruse, Friedrich E; Weinreb, Robert N; Pasquale, Louis R; Haines, Jonathan L; Thorsteinsdottir, Unnur; Jonasson, Fridbert; Allingham, R Rand; Milea, Dan; Ritch, Robert; Kubota, Toshiaki; Tashiro, Kei; Vithana, Eranga N; Micheal, Shazia; Topouzis, Fotis; Craig, Jamie E; Dubina, Michael; Sundaresan, Periasamy; Stefansson, Kari; Wiggs, Janey L; Pasutto, Francesca; Khor, Chiea Chuen

    2017-07-01

    Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10 -14 ) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10 -8 ). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

  5. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease

    NARCIS (Netherlands)

    Stasia, Marie J.; Mollin, Michele; Martel, Cecile; Satre, Veronique; Coutton, Charles; Amblard, Florence; Vieville, Gaelle; van Montfrans, Joris M.; Boelens, Jaap J.; Veenstra-Knol, Hermine E.; van Leeuwen, Karen; de Boer, Martin; Brion, Jean-Paul; Roos, Dirk

    2013-01-01

    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47(phox) protein, a component of the leukocyte NADPH

  6. Engaging a Community for Rare Genetic Disease: Best Practices and Education From Individual Crowdfunding Campaigns.

    Science.gov (United States)

    Ortiz, Romina Alicia; Witte, Steven; Gouw, Arvin; Sanfilippo, Ana; Tsai, Richard; Fumagalli, Danielle; Yu, Christine; Lant, Karla; Lipitz, Nicole; Shepphird, Jennifer; Alvina, Fidelia B; Cheng-Ho Lin, Jimmy

    2018-02-05

    Genetic sequencing is critically important to diagnostic health care efforts in the United States today, yet it is still inaccessible to many. Meanwhile, the internet and social networking have made crowdfunding a realistic avenue for individuals and groups hoping to fund medical and research causes, including patients in need of whole exome genetic sequencing (WES). Amplify Hope is an educational program designed to investigate what factors affect the success of medical crowdfunding campaigns. We conducted a needs assessment, a series of 25 interviews concerning crowdfunding, and provided training on best practices identified through our assessment for 11 individuals hoping to run their medical crowdfunding campaigns to raise money for patients to access trio WES to identify the mutated proteins that caused their apparent inherited disease. The crowdfunding education was given in a 30-day training period with resources such as webinars, fact sheets and a crowdfunding training guide emailed to each participant. All campaigns were launched on the same date and were given 30 days to raise the same goal amount of US $5000. Reviewing the 4 crowdfunding campaigns that raised the goal amount within the 30-day period, we sought to identify features that made the 4 crowdfunding campaigns successful. In addition, we sought to assess which factors the resulting 75 donors report as influencing their decision to donate to a campaign. Finally, we investigated whether crowdfunding campaigns for exome sequencing had an impact on increasing applicant's and donors' knowledge of genomics. Of the 86 study inquiries, 11 participants submitted the required forms and launched their crowdfunding campaigns. A total of 4 of the 11 campaigns raised their goal amounts within 30 days. We found that social media played an important role in all campaigns. Specifically, a strong social media network, an active outreach process to networks, as well as engagement within the study all correlated

  7. Family planning decisions for parents of children with a rare genetic condition: A scoping review.

    Science.gov (United States)

    Gee, Melanie; Piercy, Hilary; Machaczek, Katarzyna

    2017-12-01

    Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the number of conditions for which such decisions have to be made. We conducted a scoping review to explore: (i) reproductive decision-making among parents of children with recessive genetic conditions; and, (ii) the involvement of healthcare services in facilitating and supporting those decisions. Systematic search processes involved seven bibliographic databases, citation, and grey literature searches. From an initial total of 311 identified articles, seven met the inclusion criteria and were included in the review. The extracted data were organised around three themes: factors influencing reproductive decisions taken by parents, how those factors changed over time, and the involvement of healthcare services in supporting and facilitating reproductive decisions. Most studies focused on attitudes towards, and uptake of, pre-natal diagnosis (PND) and termination. None of the studies considered the wider range of reproductive choices facing all parents, including those of children with conditions for whom PND and termination is not available or where good health outcomes make these options less justifiable. The literature provided little insight into the role of healthcare staff in providing family planning support for these parents. There is a need to better understand the support parents need in their decision-making, and who is best placed to provide that support. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. Exploration of a rare population of Chinese chestnut in North America: stand dynamics, health and genetic relationships.

    Science.gov (United States)

    Miller, Amy C; Woeste, Keith E; Anagnostakis, Sandra L; Jacobs, Douglass F

    2014-10-20

    With the transport of plants around the globe, exotic species can readily spread disease to their native relatives; however, they can also provide genetic resistance to those relatives through hybrid breeding programmes. American chestnut (Castanea dentata) was an abundant tree species in North America until its decimation by introduced chestnut blight. To restore chestnut in North America, efforts are ongoing to test putative blight-resistant hybrids of Castanea dentata and Chinese chestnut (Castanea mollissima), but little is known about the ecology of C. mollissima. In a forest in northeastern USA in which C. mollissima has become established, we explored questions of stand dynamics, health and genetic relationships of C. mollissima offspring to an adjacent parent orchard. We found that C. mollissima was adapted and randomly distributed among native species in this relatively young forest. The genetics of the C. mollissima population compared with its parents indicated little effect of selection pressure as each of the parent trees contributed at least one offspring. The ease with which this exotic species proliferated calls to question why C. mollissima is rare elsewhere in forests of North America. It is likely that a time window of low animal predation allowed seedlings to establish, and the shallow soil at this site limited the maximum forest canopy height, permitting the characteristically short-statured C. mollissima to avoid suppression. Our results indicate that because C. mollissima exhibited pioneer species characteristics, hybrids between C. mollissima and C. dentata have the potential to be successful pioneer species of future forests in North America, and we challenge the paradigm that exotic tree species are wholly detrimental to native biodiversity. We contend that exotic tree species should be assessed not only by their level of threat to native species, but also by their potential positive impacts on ecosystems via hybrid breeding programmes

  9. Uniparental genetic heritage of belarusians: encounter of rare middle eastern matrilineages with a central European mitochondrial DNA pool.

    Science.gov (United States)

    Kushniarevich, Alena; Sivitskaya, Larysa; Danilenko, Nina; Novogrodskii, Tadeush; Tsybovsky, Iosif; Kiseleva, Anna; Kotova, Svetlana; Chaubey, Gyaneshwer; Metspalu, Ene; Sahakyan, Hovhannes; Bahmanimehr, Ardeshir; Reidla, Maere; Rootsi, Siiri; Parik, Jüri; Reisberg, Tuuli; Achilli, Alessandro; Hooshiar Kashani, Baharak; Gandini, Francesca; Olivieri, Anna; Behar, Doron M; Torroni, Antonio; Davydenko, Oleg; Villems, Richard

    2013-01-01

    Ethnic Belarusians make up more than 80% of the nine and half million people inhabiting the Republic of Belarus. Belarusians together with Ukrainians and Russians represent the East Slavic linguistic group, largest both in numbers and territory, inhabiting East Europe alongside Baltic-, Finno-Permic- and Turkic-speaking people. Till date, only a limited number of low resolution genetic studies have been performed on this population. Therefore, with the phylogeographic analysis of 565 Y-chromosomes and 267 mitochondrial DNAs from six well covered geographic sub-regions of Belarus we strove to complement the existing genetic profile of eastern Europeans. Our results reveal that around 80% of the paternal Belarusian gene pool is composed of R1a, I2a and N1c Y-chromosome haplogroups - a profile which is very similar to the two other eastern European populations - Ukrainians and Russians. The maternal Belarusian gene pool encompasses a full range of West Eurasian haplogroups and agrees well with the genetic structure of central-east European populations. Our data attest that latitudinal gradients characterize the variation of the uniparentally transmitted gene pools of modern Belarusians. In particular, the Y-chromosome reflects movements of people in central-east Europe, starting probably as early as the beginning of the Holocene. Furthermore, the matrilineal legacy of Belarusians retains two rare mitochondrial DNA haplogroups, N1a3 and N3, whose phylogeographies were explored in detail after de novo sequencing of 20 and 13 complete mitogenomes, respectively, from all over Eurasia. Our phylogeographic analyses reveal that two mitochondrial DNA lineages, N3 and N1a3, both of Middle Eastern origin, might mark distinct events of matrilineal gene flow to Europe: during the mid-Holocene period and around the Pleistocene-Holocene transition, respectively.

  10. Genetic insights into dispersal distance and disperser fitness of African lions (Panthera leo) from the latitudinal extremes of the Kruger National Park, South Africa.

    Science.gov (United States)

    van Hooft, Pim; Keet, Dewald F; Brebner, Diana K; Bastos, Armanda D S

    2018-04-03

    Female lions generally do not disperse far beyond their natal range, while males can disperse distances of over 200 km. However, in bush-like ecosystems dispersal distances less than 25 km are reported. Here, we investigate dispersal in lions sampled from the northern and southern extremes of Kruger National Park, a bush-like ecosystem in South Africa where bovine tuberculosis prevalence ranges from low to high across a north-south gradient. A total of 109 individuals sampled from 1998 to 2004 were typed using 11 microsatellite markers, and mitochondrial RS-3 gene sequences were generated for 28 of these individuals. Considerable north-south genetic differentiation was observed in both datasets. Dispersal was male-biased and generally further than 25 km, with long-distance male gene flow (75-200 km, detected for two individuals) confirming that male lions can travel large distances, even in bush-like ecosystems. In contrast, females generally did not disperse further than 20 km, with two distinctive RS-3 gene clusters for northern and southern females indicating no or rare long-distance female dispersal. However, dispersal rate for the predominantly non-territorial females from southern Kruger (fraction dispersers ≥0.68) was higher than previously reported. Of relevance was the below-average body condition of dispersers and their low presence in prides, suggesting low fitness. Large genetic differences between the two sampling localities, and low relatedness among males and high dispersal rates among females in the south, suggestive of unstable territory structure and high pride turnover, have potential implications for spread of diseases and the management of the Kruger lion population.

  11. Extremely low genetic diversity across mangrove taxa reflects past sea level changes and hints at poor future responses.

    Science.gov (United States)

    Guo, Zixiao; Li, Xinnian; He, Ziwen; Yang, Yuchen; Wang, Wenqing; Zhong, Cairong; Greenberg, Anthony J; Wu, Chung-I; Duke, Norman C; Shi, Suhua

    2018-04-01

    The projected increases in sea levels are expected to affect coastal ecosystems. Tropical communities, anchored by mangrove trees and having experienced frequent past sea level changes, appear to be vibrant at present. However, any optimism about the resilience of these ecosystems is premature because the impact of past climate events may not be reflected in the current abundance. To assess the impact of historical sea level changes, we conducted an extensive genetic diversity survey on the Indo-Malayan coast, a hotspot with a large global mangrove distribution. A survey of 26 populations in six species reveals extremely low genome-wide nucleotide diversity and hence very small effective population sizes (N e ) in all populations. Whole-genome sequencing of three mangrove species further shows the decline in N e to be strongly associated with the speed of past changes in sea level. We also used a recent series of flooding events in Yalong Bay, southern China, to test the robustness of mangroves to sea level changes in relation to their genetic diversity. The events resulted in the death of half of the mangrove trees in this area. Significantly, less genetically diverse mangrove species suffered much greater destruction. The dieback was accompanied by a drastic reduction in local invertebrate biodiversity. We thus predict that tropical coastal communities will be seriously endangered as the global sea level rises. Well-planned coastal development near mangrove forests will be essential to avert this crisis. © 2017 John Wiley & Sons Ltd.

  12. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2015-05-01

    Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Evolution caused by extreme events.

    Science.gov (United States)

    Grant, Peter R; Grant, B Rosemary; Huey, Raymond B; Johnson, Marc T J; Knoll, Andrew H; Schmitt, Johanna

    2017-06-19

    Extreme events can be a major driver of evolutionary change over geological and contemporary timescales. Outstanding examples are evolutionary diversification following mass extinctions caused by extreme volcanism or asteroid impact. The evolution of organisms in contemporary time is typically viewed as a gradual and incremental process that results from genetic change, environmental perturbation or both. However, contemporary environments occasionally experience strong perturbations such as heat waves, floods, hurricanes, droughts and pest outbreaks. These extreme events set up strong selection pressures on organisms, and are small-scale analogues of the dramatic changes documented in the fossil record. Because extreme events are rare, almost by definition, they are difficult to study. So far most attention has been given to their ecological rather than to their evolutionary consequences. We review several case studies of contemporary evolution in response to two types of extreme environmental perturbations, episodic (pulse) or prolonged (press). Evolution is most likely to occur when extreme events alter community composition. We encourage investigators to be prepared for evolutionary change in response to rare events during long-term field studies.This article is part of the themed issue 'Behavioural, ecological and evolutionary responses to extreme climatic events'. © 2017 The Author(s).

  14. Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial

    Directory of Open Access Journals (Sweden)

    Skylar W. Marvel

    2017-05-01

    Full Text Available Background Individuals with type 2 diabetes are at an increased risk of cardiovascular disease. Alterations in circulating lipid levels, total cholesterol (TC, low-density lipoprotein (LDL, high-density lipoprotein (HDL, and triglycerides (TG are heritable risk factors for cardiovascular disease. Here we conduct a genome-wide association study (GWAS of common and rare variants to investigate associations with baseline lipid levels in 7,844 individuals with type 2 diabetes from the ACCORD clinical trial. Methods DNA extracted from stored blood samples from ACCORD participants were genotyped using the Affymetrix Axiom Biobank 1 Genotyping Array. After quality control and genotype imputation, association of common genetic variants (CV, defined as minor allele frequency (MAF ≥ 3%, with baseline levels of TC, LDL, HDL, and TG was tested using a linear model. Rare variant (RV associations (MAF < 3% were conducted using a suite of methods that collapse multiple RV within individual genes. Results Many statistically significant CV (p < 1 × 10−8 replicate findings in large meta-analyses in non-diabetic subjects. RV analyses also confirmed findings in other studies, whereas significant RV associations with CNOT2, HPN-AS1, and SIRPD appear to be novel (q < 0.1. Discussion Here we present findings for the largest GWAS of lipid levels in people with type 2 diabetes to date. We identified 17 statistically significant (p < 1 × 10−8 associations of CV with lipid levels in 11 genes or chromosomal regions, all of which were previously identified in meta-analyses of mostly non-diabetic cohorts. We also identified 13 associations in 11 genes based on RV, several of which represent novel findings.

  15. Genetic transformation of rare Verbascum eriophorum Godr. plants and metabolic alterations revealed by NMR-based metabolomics.

    Science.gov (United States)

    Marchev, Andrey; Yordanova, Zhenya; Alipieva, Kalina; Zahmanov, Georgi; Rusinova-Videva, Snezhana; Kapchina-Toteva, Veneta; Simova, Svetlana; Popova, Milena; Georgiev, Milen I

    2016-09-01

    To develop a protocol to transform Verbascum eriophorum and to study the metabolic differences between mother plants and hairy root culture by applying NMR and processing the datasets with chemometric tools. Verbascum eriophorum is a rare species with restricted distribution, which is poorly studied. Agrobacterium rhizogenes-mediated genetic transformation of V. eriophorum and hairy root culture induction are reported for the first time. To determine metabolic alterations, V. eriophorum mother plants and relevant hairy root culture were subjected to comprehensive metabolomic analyses, using NMR (1D and 2D). Metabolomics data, processed using chemometric tools (and principal component analysis in particular) allowed exploration of V. eriophorum metabolome and have enabled identification of verbascoside (by means of 2D-TOCSY NMR) as the most abundant compound in hairy root culture. Metabolomics data contribute to the elucidation of metabolic alterations after T-DNA transfer to the host V. eriophorum genome and the development of hairy root culture for sustainable bioproduction of high value verbascoside.

  16. A rare case of extremely high counts of circulating tumor cells detected in a patient with an oral squamous cell carcinoma

    International Nuclear Information System (INIS)

    Wu, Xianglei; Mastronicola, Romina; Tu, Qian; Faure, Gilbert Charles; De Carvalho Bittencourt, Marcelo; Dolivet, Gilles

    2016-01-01

    Despite aggressive regimens, the clinical outcome of head and neck squamous cell carcinoma remains poor. The detection of circulating tumor cells could potentially improve the management of patients with disseminated cancer, including diagnosis, treatment strategies, and surveillance. Currently, CellSearch ® is the most widely used and the only Food and Drug Administration-cleared system for circulating tumor cells detection in patients with metastatic breast, colorectal, or prostate cancer. In most cases of head and neck squamous cell carcinoma, only low counts of circulating tumor cells have been reported. A 56-year-old white male with no particular medical history, was diagnosed with a squamous cell carcinoma of oral cavity. According to the imaging results (computed tomography and 18 F-fluorodeoxyglucose positron emission tomography / computed tomography) and panendoscopy, the TNM staging was classified as T4N2M0. A non-interruptive pelvimandibulectomy was conducted according to the multidisciplinary meeting advices and the postoperative observations were normal. The patient complained of a painful cervical edema and a trismus 6 weeks after the surgery. A relapse was found by computed tomography and the patient died two weeks later. The search for circulating tumor cells in peripheral venous blood by using the CellSearch ® system revealed a very high count compared with published reports at three time points (pre-operative: 400; intra-operative: 150 and post-operative day 7: 1400 circulating tumor cells). Of note, all detected circulating tumor cells were epidermal growth factor receptor negative. We report here for the first time a rare case of oral squamous cell carcinoma with extremely high circulating tumor cells counts using the CellSearch ® system. The absolute number of circulating tumor cells might predict a particular phase of cancer development as well as a poor survival, potentially contributing to a personalized healthcare

  17. Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

    Directory of Open Access Journals (Sweden)

    Ashley Cannon

    2016-01-01

    Full Text Available Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. Case report. Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. In addition to the patient being diagnosed, four siblings have a clinical diagnosis of SCN9A channelopathy as they have consistent symptoms and a sister with a known mutation. For treatment, gabapentin was ineffective and carbamazepine was not tolerated. Nontraditional therapies improved symptoms and constipation resolved with pelvic floor retraining with biofeedback. Conclusion. Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics. Pelvic floor retraining with biofeedback should be considered for patients with a SCN9A channelopathy and constipation.

  18. Rare Events

    Science.gov (United States)

    2009-10-01

    Limited Operational Exercise 1. 1A Limited Operational Exercise is a multiplayer experiment designed to exploit and study information sharing and...1.4 Summary of the Study The “rare event” of interest is an extreme, deliberate act of violence , destruction or socioeconomic disruption, such as an...connection with terrorism inves- tigations. The programs then use some combination of doctrinal revision and rewards to induce the people to abandon violence

  19. Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants.

    Science.gov (United States)

    Hartnett, M Elizabeth; Morrison, Margaux A; Smith, Silvia; Yanovitch, Tammy L; Young, Terri L; Colaizy, Tarah; Momany, Allison; Dagle, John; Carlo, Waldemar A; Clark, Erin A S; Page, Grier; Murray, Jeff; DeAngelis, Margaret M; Cotten, C Michael

    2014-08-12

    To determine genetic variants associated with severe retinopathy of prematurity (ROP) in a candidate gene cohort study of US preterm infants. Preterm infants in the discovery cohort were enrolled through the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, and those in the replication cohort were from the University of Iowa. All infants were phenotyped for ROP severity. Because of differences in the durations of enrollment between cohorts, severe ROP was defined as threshold disease in the discovery cohort and as threshold disease or type 1 ROP in the replication cohort. Whole genome amplified DNA from stored blood spot samples from the Neonatal Research Network biorepository was genotyped using an Illumina GoldenGate platform for candidate gene single nucleotide polymorphisms (SNPs) involving angiogenic, developmental, inflammatory, and oxidative pathways. Three analyses were performed to determine significant epidemiologic variables and SNPs associated with levels of ROP severity. Analyses controlled for multiple comparisons, ancestral eigenvalues, family relatedness, and significant epidemiologic variables. Single nucleotide polymorphisms significantly associated with ROP severity from the discovery cohort were analyzed in the replication cohort and in meta-analysis. Eight hundred seventeen infants in the discovery cohort and 543 in the replication cohort were analyzed. Severe ROP occurred in 126 infants in the discovery and in 14 in the replication cohort. In both cohorts, ventilation days and seizure occurrence were associated with severe ROP. After controlling for significant factors and multiple comparisons, two intronic SNPs in the gene BDNF (rs7934165 and rs2049046, P large candidate gene study of infants with threshold ROP. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  20. Brothers with constrictive pericarditis – A novel mutation in a rare disease

    Directory of Open Access Journals (Sweden)

    Devendra V. Patil

    2016-09-01

    Full Text Available Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP syndrome CACP syndrome and also revealed a rare mutation in the causative gene.

  1. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

    Science.gov (United States)

    Steinhagen-Thiessen, Elisabeth; Stroes, Erik; Soran, Handrean; Johnson, Colin; Moulin, Philippe; Iotti, Giorgio; Zibellini, Marco; Ossenkoppele, Bas; Dippel, Michaela; Averna, Maurizio R

    2017-07-01

    A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera ® ) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes. Copyright © 2016. Published by Elsevier B.V.

  2. Polygenic determinants in extremes of high-density lipoprotein cholesterol.

    Science.gov (United States)

    Dron, Jacqueline S; Wang, Jian; Low-Kam, Cécile; Khetarpal, Sumeet A; Robinson, John F; McIntyre, Adam D; Ban, Matthew R; Cao, Henian; Rhainds, David; Dubé, Marie-Pierre; Rader, Daniel J; Lettre, Guillaume; Tardif, Jean-Claude; Hegele, Robert A

    2017-11-01

    HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. Copyright © 2017 by the American Society for Biochemistry and Molecular Biology, Inc.

  3. An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

    Science.gov (United States)

    Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

    2018-05-01

    Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

  4. Synovial sarcoma of primary bone origin: a rare case in a rare site with atypical features

    International Nuclear Information System (INIS)

    Jung, Seung Chai; Choi, Jung-Ah; Lee, Joon Woo; Kang, Heung Sik; Chung, Jin-Haeng; Oh, Joo Han

    2007-01-01

    Synovial sarcoma of bone origin is extremely rare and difficult to diagnose. We present a case in which the lesion arose in the cortex of the distal tibia. It showed heterogeneous intermediate signal intensity on T1-weighted images and heterogeneous intermediate to low signal intensity on T2-weighted images with heterogeneous contrast enhancement on MRI. The lesion was confirmed as synovial sarcoma using a combination of histological and molecular genetic studies. (orig.)

  5. Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

    DEFF Research Database (Denmark)

    Bonàs-Guarch, Sílvia; Guindo-Martínez, Marta; Miguel-Escalada, Irene

    2018-01-01

    The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel...... available data using novel genetic resources and analytical approaches....... associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. Beyond providing insights into the genetics and pathophysiology of T2D, these results also underscore the value of reanalyzing publicly...

  6. [Clonal micropropagation of a rare species Hedysarum theinum Krasnob (Fabaceae) and assessment of the genetic stability of regenerated plants using ISSR markers].

    Science.gov (United States)

    Erst, A A; Svyagina, N S; Novikova, T I; Dorogina, O V

    2015-02-01

    In the present study, a protocol was developed for the in vitro propagation of a rare medicinal plant, Hedysarum theinum (tea sweetvetch), from axillary buds, and identification of the regenerants was performed with the use of ISSR markers. It was demonstrated that Gamborg and Eveleigh medium supplemented with 5 μM 6-benzylaminopurine was the best for H. theinum for initial multiplication. On the other hand, half-strength Murashige and Skoog (MS) basal medium supplemented with 7 μM α-naphthaleneacetic acid proved to be the best for explant rooting. Molecular genetic analysis of the H. theinum mother plants and the obtained regenerants was performed with six ISSR markers. Depending on the primer, four to ten amplified fragments with sizes ranging from 250 to 3000 bp were identified. Our results confirmed the genetic stability of regenerants obtained in five passages and their identity to the mother plant.

  7. The application of neutral network integrated with genetic algorithm and simulated annealing for the simulation of rare earths separation processes by the solvent extraction technique using EHEHPA agent

    International Nuclear Information System (INIS)

    Tran Ngoc Ha; Pham Thi Hong Ha

    2003-01-01

    In the present work, neutral network has been used for mathematically modeling equilibrium data of the mixture of two rare earth elements, namely Nd and Pr with PC88A agent. Thermo-genetic algorithm based on the idea of the genetic algorithm and the simulated annealing algorithm have been used in the training procedure of the neutral networks, giving better result in comparison with the traditional modeling approach. The obtained neutral network modeling the experimental data is further used in the computer program to simulate the solvent extraction process of two elements Nd and Pr. Based on this computer program, various optional schemes for the separation of Nd and Pr have been investigated and proposed. (author)

  8. The Genetic Architecture Underlying the Evolution of a Rare Piscivorous Life History Form in Brown Trout after Secondary Contact and Strong Introgression

    Directory of Open Access Journals (Sweden)

    Arne Jacobs

    2018-05-01

    Full Text Available Identifying the genetic basis underlying phenotypic divergence and reproductive isolation is a longstanding problem in evolutionary biology. Genetic signals of adaptation and reproductive isolation are often confounded by a wide range of factors, such as variation in demographic history or genomic features. Brown trout (Salmo trutta in the Loch Maree catchment, Scotland, exhibit reproductively isolated divergent life history morphs, including a rare piscivorous (ferox life history form displaying larger body size, greater longevity and delayed maturation compared to sympatric benthivorous brown trout. Using a dataset of 16,066 SNPs, we analyzed the evolutionary history and genetic architecture underlying this divergence. We found that ferox trout and benthivorous brown trout most likely evolved after recent secondary contact of two distinct glacial lineages, and identified 33 genomic outlier windows across the genome, of which several have most likely formed through selection. We further identified twelve candidate genes and biological pathways related to growth, development and immune response potentially underpinning the observed phenotypic differences. The identification of clear genomic signals divergent between life history phenotypes and potentially linked to reproductive isolation, through size assortative mating, as well as the identification of the underlying demographic history, highlights the power of genomic studies of young species pairs for understanding the factors shaping genetic differentiation.

  9. [Court-ordered access to treatment of rare genetic diseases: Fabry Disease in the state of Rio Grande do Sul, Brazil].

    Science.gov (United States)

    Sartori Junior, Dailor; Leivas, Paulo Gilberto Cogo; Souza, Mônica Vinhas de; Krug, Bárbara Corrêa; Balbinotto, Giacomo; Schwartz, Ida Vanessa Doederlein

    2012-10-01

    Court-ordered access to high-cost drugs for rare genetic diseases, such as Fabry Disease (alpha-galactosidase-A deficiency), is a growing phenomenon as yet lacking systematic study. An observational, cross-sectional and retrospective study was conducted to characterize the lawsuits related to access to treatment for Fabry Disease by Enzyme Replacement Therapy in the State of Rio Grande do Sul prior to 2007. The study identified 13 lawsuits and 17 plaintiffs, 11 requesting alfa and 6 betagalsidase. The State of RS, the Federal Government, and 5 municipalities figured as defendants, in the form of joinder of parties or otherwise. There were 13 requests for interlocutory relief of which 12 were granted, and 2 sentences were handed down, both favorable. "Risk of death" was alleged by doctors in 4 prescriptions and by lawyers in the 13 lawsuits. The data suggest the lack of discussions combining aspects of medical efficacy and safety, cost-effectiveness, economic impact, and legal and constitutional arguments, which requires a specific policy for rare genetic diseases to standardize access to treatment.

  10. The Use of Patient-Specific Induced Pluripotent Stem Cells (iPSCs to Identify Osteoclast Defects in Rare Genetic Bone Disorders

    Directory of Open Access Journals (Sweden)

    I-Ping Chen

    2014-12-01

    Full Text Available More than 500 rare genetic bone disorders have been described, but for many of them only limited treatment options are available. Challenges for studying these bone diseases come from a lack of suitable animal models and unavailability of skeletal tissues for studies. Effectors for skeletal abnormalities of bone disorders may be abnormal bone formation directed by osteoblasts or anomalous bone resorption by osteoclasts, or both. Patient-specific induced pluripotent stem cells (iPSCs can be generated from somatic cells of various tissue sources and in theory can be differentiated into any desired cell type. However, successful differentiation of hiPSCs into functional bone cells is still a challenge. Our group focuses on the use of human iPSCs (hiPSCs to identify osteoclast defects in craniometaphyseal dysplasia. In this review, we describe the impact of stem cell technology on research for better treatment of such disorders, the generation of hiPSCs from patients with rare genetic bone disorders and current protocols for differentiating hiPSCs into osteoclasts.

  11. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    DEFF Research Database (Denmark)

    Aung, Tin; Ozaki, Mineo; Lee, Mei Chin

    2017-01-01

    Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS c...

  12. Conservation genetics of extremely isolated urban populations of the northern dusky salamander (Desmognathus fuscus in New York City

    Directory of Open Access Journals (Sweden)

    Jason Munshi-South

    2013-04-01

    Full Text Available Urbanization is a major cause of amphibian decline. Stream-dwelling plethodontid salamanders are particularly susceptible to urbanization due to declining water quality and hydrological changes, but few studies have examined these taxa in cities. The northern dusky salamander (Desmognathus fuscus was once common in the New York City metropolitan area, but has substantially declined throughout the region in recent decades. We used five tetranucleotide microsatellite loci to examine population differentiation, genetic variation, and bottlenecks among five remnant urban populations of dusky salamanders in NYC. These genetic measures provide information on isolation, prevalence of inbreeding, long-term prospects for population persistence, and potential for evolutionary responses to future environmental change. All populations were genetically differentiated from each other, and the most isolated populations in Manhattan have maintained very little genetic variation (i.e. <20% heterozygosity. A majority of the populations also exhibited evidence of genetic bottlenecks. These findings contrast with published estimates of high genetic variation within and lack of structure between populations of other desmognathine salamanders sampled over similar or larger spatial scales. Declines in genetic variation likely resulted from population extirpations and the degradation of stream and terrestrial paths for dispersal in NYC. Loss of genetic variability in populations isolated by human development may be an underappreciated cause and/or consequence of the decline of this species in urbanized areas of the northeast USA.

  13. Spontaneous Rupture of Splenic Artery Aneurysm during the First Trimester of Pregnancy: Report of an Extremely Rare Case and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Theodoros Pavlis

    2012-01-01

    Full Text Available Splenic artery aneurysm (SAA occurs predominantly in women and the majority of them are asymptomatic until rupture. In cases of spontaneous rupture of an SAA, maternal and fetal mortality rates remain extremely high. Furthermore, the spontaneous ruptures of SAAs predominantly appear during the third trimester of pregnancy. We present the third known case of spontaneous SAA rupture during the first trimester of pregnancy, which manifested as sudden hypovolemic collapse and was successfully confronted with combined aggressive resuscitation and emergency surgical operation.

  14. Evidence for an Invasive Aphid “Superclone”: Extremely Low Genetic Diversity in Oleander Aphid (Aphis nerii) Populations in the Southern United States

    Science.gov (United States)

    Harrison, John Scott; Mondor, Edward B.

    2011-01-01

    Background The importance of genetic diversity in successful biological invasions is unclear. In animals, but not necessarily plants, increased genetic diversity is generally associated with successful colonization and establishment of novel habitats. The Oleander aphid, Aphis nerii, though native to the Mediterranean region, is an invasive pest species throughout much of the world. Feeding primarily on Oleander (Nerium oleander) and Milkweed (Asclepias spp.) under natural conditions, these plants are unlikely to support aphid populations year round in the southern US. The objective of this study was to describe the genetic variation within and among US populations of A. nerii, during extinction/recolonization events, to better understand the population ecology of this invasive species. Methodology/Principal Findings We used five microsatellite markers to assess genetic diversity over a two year period within and among three aphid populations separated by small (100 km) and large (3,700 km) geographic distances on two host plant species. Here we provide evidence for A. nerii “superclones”. Genotypic variation was absent in all populations (i.e., each population consisted of a single multilocus genotype (MLG) or “clone”) and the genetic composition of only one population completely changed across years. There was no evidence of sexual reproduction or host races on different plant species. Conclusions/Significance Aphis nerii is a well established invasive species despite having extremely low genetic diversity. As this aphid appears to be obligatorily asexual, it may share more similarities with clonally reproducing invasive plants, than with other animals. Patterns of temporal and geographic genetic variation, viewed in the context of its population dynamics, have important implications for the management of invasive pests and the evolutionary biology of asexual species. PMID:21408073

  15. Evidence for an invasive aphid "superclone": extremely low genetic diversity in Oleander aphid (Aphis nerii populations in the southern United States.

    Directory of Open Access Journals (Sweden)

    John Scott Harrison

    2011-03-01

    Full Text Available The importance of genetic diversity in successful biological invasions is unclear. In animals, but not necessarily plants, increased genetic diversity is generally associated with successful colonization and establishment of novel habitats. The Oleander aphid, Aphis nerii, though native to the Mediterranean region, is an invasive pest species throughout much of the world. Feeding primarily on Oleander (Nerium oleander and Milkweed (Asclepias spp. under natural conditions, these plants are unlikely to support aphid populations year round in the southern US. The objective of this study was to describe the genetic variation within and among US populations of A. nerii, during extinction/recolonization events, to better understand the population ecology of this invasive species.We used five microsatellite markers to assess genetic diversity over a two year period within and among three aphid populations separated by small (100 km and large (3,700 km geographic distances on two host plant species. Here we provide evidence for A. nerii "superclones". Genotypic variation was absent in all populations (i.e., each population consisted of a single multilocus genotype (MLG or "clone" and the genetic composition of only one population completely changed across years. There was no evidence of sexual reproduction or host races on different plant species.Aphis nerii is a well established invasive species despite having extremely low genetic diversity. As this aphid appears to be obligatorily asexual, it may share more similarities with clonally reproducing invasive plants, than with other animals. Patterns of temporal and geographic genetic variation, viewed in the context of its population dynamics, have important implications for the management of invasive pests and the evolutionary biology of asexual species.

  16. Statistics of Extremes

    KAUST Repository

    Davison, Anthony C.; Huser, Raphaë l

    2015-01-01

    Statistics of extremes concerns inference for rare events. Often the events have never yet been observed, and their probabilities must therefore be estimated by extrapolation of tail models fitted to available data. Because data concerning the event

  17. Genetic structure and breeding system of a rare understory herb, Dysosma versipellis (Berberidaceae), from temperate deciduous forests in China.

    Science.gov (United States)

    Guan, Bi-Cai; Fu, Cheng-Xing; Qiu, Ying-Xiong; Zhou, Shi-Liang; Comes, Hans Peter

    2010-01-01

    To evaluate the role of Quaternary refugial isolation in allopatric (incipient) speciation of East Asian temperate forest biotas, we analyzed amplified fragment length polymorphisms (AFLPs) and the breeding system in Dysosma versipellis. The study revealed that D. versipellis is mostly self-incompatible, genetically highly subdivided and depauperate at the population level (e.g., Φ(ST) = 0.572/H(E) = 0.083), and characterized by a low pollen-to-seed migration ratio (r ≈ 4.0). The latter outcome likely reflects limited pollen flow in a low-seed disperser whose hypothesized "sapromyophilous" flowers undergo scarce, inefficient, and likely specialized cross-pollination by small Anoplodera beetles, rather than carrion flies as assumed previously. In consequence, fruit set in D. versipellis was strongly pollen-limited. Our AFLP data support the hypothesis of a long-standing cessation of gene flow between western and central eastern populations, consistent with previous chloroplast DNA data. This phylogeographic pattern supports the role of the Sichuan Basin as a floristic boundary separating the Sino-Himalayan vs. Sino-Japanese Forest subkingdoms. Our genetic data of D. versipellis also imply that temperate deciduous forest elements to the west and the east of this basin responded differently to Quaternary climate change, which may have triggered or is leading to allopatric (incipient) speciation.

  18. C-Window Peaks on CE-HPLC are Extremely Rare in Northern India, and Only Infrequently Represent HbC.

    Science.gov (United States)

    Dass, Jasmita; Mittal, Suchi; Saraf, Amrita; Kotwal, Jyoti

    2018-01-01

    Hemoglobin C (HbC, HBB:c.19G > A) is a structural variant that has been reported rarely from India. This was a retrospective review of all high performance liquid chromatography (HPLCs) submitted over a 14 year period to a tertiary care center in North India with an aim of finding hemoglobins that elute in the C-window. Of the 32,364 HPLCs screened, 6 cases showed peaks in the C-window. Of these 6 cases, only two cases contained hemoglobin C. These was one case each of HbC/β thalassemia and compound heterozygosity for HbC and HbD. There were 4 cases which showed very similar red cell indices and chromatograms with multiple peaks eluting in D-window, C-window and an additional peak with a retention time of 4.74 min. These four cases were compound heterozygous for an α chain variant HbQ-India and a β-chain variant HbD.

  19. Genetic Patterns of Myrceugenia correifolia, a Rare Species of Fog-Dependent Forests of Mediterranean Chile: Is It a Climatic Relict?

    Science.gov (United States)

    Pérez, Fernanda; Hinojosa, Luis F; Peralta, Gioconda; Montenegro, Paz; Irarrázabal, Carla; Cossio, Michel

    2017-01-01

    Rare species frequently occur in areas with microclimatic conditions that are atypical for their regions, but that were more common in the past, and that probably have operated as climatic refugia for a long time. Myrceugenia correifolia is a rare arboreal species that grows in deep canyons and hilltops of the Coast Range of north-central Chile between 30° and 35°S. In the northern edge of its distribution M. correifolia grows in small patches of fog-dependent forest surrounding by xeric vegetation. These forest formations are thought to be remnants of an ancient and continuous rainforest that according to some authors became fragmented during aridization of the Neogene (Neogene relict) and to others during warm-dry cycles of the Pleistocene (glacial relicts). Here we asked whether the northernmost populations of M. correifolia are Neogene relicts, glacial relicts, or the result of a recent northward colonization. To answer this question we examined genetic diversity and population divergence of M. correifolia using microsatellite markers, tested various competing population history scenarios with an approximate Bayesian computation (ABC) method, and complemented these data with ecological niche modeling (ENM). We detected three genetic clusters with a distinctive latitudinal pattern (north, center, and south) and high levels of differentiation ( F ST = 0.36). Demographic inference supported an admixture event 31 kya between two populations that diverged from an ancient population 139 kya. The admixture time coincides with the beginning of a period of wet conditions in north-central Chile that extended from 33 to 19 kya and was preceded by dry and cold conditions. These results suggest that increased precipitation during glacial periods triggered northward expansion of the range of M. correifolia , with subsequent admixture between populations that remained separated during interglacial periods. Accordingly, ENM models showed that suitable habitats for M

  20. Dissecting Biological Dark Matter: Single Cell Genetic Analysis of TM7, a Rare and Uncultivated Microbe from the Human Mouth

    Energy Technology Data Exchange (ETDEWEB)

    Fenner, Marsha W; Marcy, Yann; Ouverney, Cleber; Bik, Elisabeth M.; Losekann, Tina; Ivanova, Natalia; Martin, H. Garcia; Szeto, E.; Platt, Darren; Hugenholtz, Philip; Relman, David A.; Quake, Stephen R.

    2007-07-01

    We have developed a microfluidic device that allows the isolation and genome amplification of individual microbial cells, thereby enabling organism-level genomic analysis of complex microbial ecosystems without the need for culture. This device was used to perform a directed survey of the human subgingival crevice and to isolate bacteria having rod-like morphology. Several isolated microbes had a 16S rRNA sequence that placed them in candidate phylum TM7, which has no cultivated or sequenced members. Genome amplification from individual TM7 cells allowed us to sequence and assemble >1,000 genes, providing insight into the physiology of members of this phylum. This approach enables single-cell genetic analysis of any uncultivated minority member of a microbial community.

  1. An integrated wave modelling framework for extreme and rare events for climate change in coastal areas – the case of Rethymno, Crete

    Directory of Open Access Journals (Sweden)

    Vasiliki K. Tsoukala

    2016-04-01

    Full Text Available Coastal floods are regarded as among the most dangerous and harmful of all natural disasters affecting urban areas adjacent to the shorelines. Rapid urbanization combined with climate change and poor governance often results in significant increase of flood risk, especially for coastal communities. Wave overtopping and wave run-up are the key mechanisms for monitoring the results of coastal flooding and as such, significant efforts are currently focusing on their predicting. In this paper, an integrated methodology is proposed, accounting for wave overtopping and wave run-up under extreme wave scenarios caused by storm surges. By taking advantage of past and future climatic projections of wind data, a downscaling approach is proposed, utilizing a number of appropriate numerical models than can simulate the wave propagation from offshore up to the swash zone. The coastal zone of Rethymno in Greece is selected as a case study area and simulations of wave characteristics with the model SWAN for the period 1960–2100 in the offshore region are presented. These data are given as boundary conditions to further numerical models (MIKE21 PMS and HD in order to investigate the spatial evolution of the wave and the hydrodynamic field in intermediate and shallow waters. Finally, the calculated wave height serves as input to empirical formulas and time dependent wave propagation models (MIKE21 BW to estimate the wave run-up and wave overtopping (EurOtop. It is suggested that the proposed procedure is generic enough to be applicable to any similar region.

  2. Extremely low genetic variation in endangered Tatra chamois and evidence for hybridization with an introduced Alpine population

    Czech Academy of Sciences Publication Activity Database

    Zemanová, Barbora; Hájková, Petra; Hájek, B.; Martínková, Natália; Mikulíček, Peter; Zima, Jan; Bryja, Josef

    2015-01-01

    Roč. 16, č. 3 (2015), s. 729-741 ISSN 1566-0621 R&D Projects: GA AV ČR IAA600930609 Institutional support: RVO:68081766 Keywords : Rupicapra rupicapra tatrica * Ungulate * Non-invasive genetic sampling * Bottleneck * Inbreeding * Hybrid detection Subject RIV: EG - Zoology Impact factor: 2.040, year: 2015

  3. Polygenic determinants in extremes of high-density lipoprotein cholesterol[S

    Science.gov (United States)

    Dron, Jacqueline S.; Wang, Jian; Low-Kam, Cécile; Khetarpal, Sumeet A.; Robinson, John F.; McIntyre, Adam D.; Ban, Matthew R.; Cao, Henian; Rhainds, David; Dubé, Marie-Pierre; Rader, Daniel J.; Lettre, Guillaume; Tardif, Jean-Claude

    2017-01-01

    HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. PMID:28870971

  4. Permanent neonatal diabetes mellitus - a case report of a rare cause ...

    African Journals Online (AJOL)

    Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the aetiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes, and is usually ...

  5. Nance–Horan Syndrome: A Rare Case Report

    OpenAIRE

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

  6. Robinow Syndrome: A Rare Case Report and Review of Literature

    OpenAIRE

    Soman, Cristalle; Lingappa, Ashok

    2015-01-01

    ABSTRACT Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism,...

  7. Progeria in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    R Sowmiya

    2011-01-01

    Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

  8. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease

    Directory of Open Access Journals (Sweden)

    Moldovan Laura

    2010-10-01

    Full Text Available Abstract Background Computer-based teaching (CBT is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II. Aim To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. Implementation and Results The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca, was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. Conclusions The

  9. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.

    Science.gov (United States)

    Al-Jasmi, Fatma; Moldovan, Laura; Clarke, Joe T R

    2010-10-25

    Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II). To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca), was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. The Hunter disease eClinic employs a CBT model providing the trainee with realistic

  10. Extremely low genetic variability within and among locations of the greenfish holothurian Stichopus chloronotus Brandt, 1835 in Okinawa, Japan

    Directory of Open Access Journals (Sweden)

    Taha Soliman

    2016-09-01

    Full Text Available The greenfish sea cucumber Stichopus chloronotus is an economically and ecologically important sea cucumber species throughout its range. This species is widely distributed, inhabiting coral reefs of the Indo-Pacific Ocean. Our study evaluated population genetic structure and levels of genetic diversity in southern Japan. A total of 180 individuals were collected from eight locations from Okinawa and Okinoerabu Islands and sequenced using mitochondrial 16S ribosomal DNA (16S and nuclear histone H3 (H3 gene. Only three 16S haplotypes were detected (518 bp with haplotype diversity ranging from 0 to 0.56 and nucleotide diversity from 0 to 0.1%. H3 showed no variation among the studied locations. It is plausible that such results could be due to a shift to asexual reproduction. Additionally, the presence of the species on the east coast of Okinawa could only be detected in one location and all individuals consisted of a single haplotype. Genetic differences between the east and west coasts of Okinawa have been noticed in other coral reef organisms, and attributed to either ecological or biogeographical historical differences between the coasts due to differing levels of isolation during Pleistocene ice ages. Results from the present study should inform management and conservation policies of S. chloronotus in southern Japan.

  11. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  12. Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

    Directory of Open Access Journals (Sweden)

    James P Davis

    2017-10-01

    Full Text Available Lipid and lipoprotein subclasses are associated with metabolic and cardiovascular diseases, yet the genetic contributions to variability in subclass traits are not fully understood. We conducted single-variant and gene-based association tests between 15.1M variants from genome-wide and exome array and imputed genotypes and 72 lipid and lipoprotein traits in 8,372 Finns. After accounting for 885 variants at 157 previously identified lipid loci, we identified five novel signals near established loci at HIF3A, ADAMTS3, PLTP, LCAT, and LIPG. Four of the signals were identified with a low-frequency (0.005rare (MAF<0.005 variant, including Arg123His in LCAT. Gene-based associations (P<10-10 support a role for coding variants in LIPC and LIPG with lipoprotein subclass traits. 30 established lipid-associated loci had a stronger association for a subclass trait than any conventional trait. These novel association signals provide further insight into the molecular basis of dyslipidemia and the etiology of metabolic disorders.

  13. The effects of disruptive and stabilizing selection on body size in Drosophila melanogaster. III. Genetic analysis of two lines with different reactions to disruptive selection with mating of opposite extremes

    NARCIS (Netherlands)

    Bos, M.; Scharloo, W.

    1974-01-01

    A genetic analysis was made of two lines which when subjected to disruptive selection with compulsary mating of opposite extremes (D−) showed a different response viz. one, D−-1, showing predominantly an increase of environmental variance and possibly interaction variance, the other, D−-2, showing

  14. Global MLST of Salmonella Typhi Revisited in Post-Genomic Era: Genetic conservation, Population Structure and Comparative genomics of rare sequence types

    Directory of Open Access Journals (Sweden)

    Kien-Pong eYap

    2016-03-01

    Full Text Available Typhoid fever, caused by Salmonella enterica serovar Typhi, remains an important public health burden in Southeast Asia and other endemic countries. Various genotyping methods have been applied to study the genetic variations of this human-restricted pathogen. Multilocus Sequence Typing (MLST is one of the widely accepted methods, and recently, there is a growing interest in the re-application of MLST in the post-genomic era. In this study, we provide the global MLST distribution of S. Typhi utilizing both publicly available 1,826 S. Typhi genome sequences in addition to performing conventional MLST on S. Typhi strains isolated from various endemic regions spanning over a century. Our global MLST analysis confirms the predominance of two sequence types (ST1 and ST2 co-existing in the endemic regions. Interestingly, S. Typhi strains with ST8 are currently confined within the African continent. Comparative genomic analyses of ST8 and other rare STs with genomes of ST1/ST2 revealed unique mutations in important virulence genes such as flhB, sipC and tviD that may explain the variations that differentiate between seemingly successful (widespread and unsuccessful (poor dissemination S. Typhi populations. Large scale whole-genome phylogeny demonstrated evidence of phylogeographical structuring and showed that ST8 may have diverged from the earlier ancestral population of ST1 and ST2, which later lost some of its fitness advantages, leading to poor worldwide dissemination. In response to the unprecedented increase in genomic data, this study demonstrates and highlights the utility of large-scale genome-based MLST as a quick and effective approach to narrow the scope of in-depth comparative genomic analysis and consequently provide new insights into the fine scale of pathogen evolution and population structure.

  15. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

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

  16. Rare earths

    Energy Technology Data Exchange (ETDEWEB)

    Cranstone, D A

    1979-01-01

    Rare earth elements are commonly extracted from the minerals monazite, bastnaesite, and xenotine. New uses for these elements are constantly developing; they have found applications in glass polishing, television tube phosphors, high-strength low-alloy steels, magnets, catalysts, refractory ceramics, and hydrogen sponge alloys. In Canada, rare earths have been produced as byproducts of the uranium mining industry, but there was no production of rare earths in 1978 or 1979. The world sources of and markets for the rare earth elements are discussed.

  17. Rare (Earth Elements [score

    Directory of Open Access Journals (Sweden)

    Camilo Méndez

    2014-12-01

    Full Text Available Rare (Earth Elements is a cycle of works for solo piano. The cycle was inspired by James Dillon’s Book of Elements (Vol. I-V. The complete cycle will consist of 14 pieces; one for each selected rare (earth element. The chosen elements are Neodymium, Erbium, Tellurium, Hafnium, Tantalum, Technetium, Indium, Dysprosium, Lanthanium, Cerium, Europium, Terbium, Yttrium and Darmstadtium. These elements were selected due to their special atomic properties that in many cases make them extremely valuable for the development of new technologies, and also because of their scarcity. To date, only 4 works have been completed Yttrium, Technetium, Indium and Tellurium.

  18. Rare muon processes: Experiment

    International Nuclear Information System (INIS)

    Walter, H.K.

    1998-01-01

    The decay properties of muons, especially their rare decays, can be used to study very accurately deviations from the Standard Model. Muons with extremely low energies and good spatial definition are preferred for the majority of such studies. With the upgrade of the 590-MeV ring accelerator, PSI possesses the most powerful cyclotron in the world. This makes it possible to operate high-intensity beams of secondary pions and muons. A short review on rare muon processes is presented, concerning μ-e conversion and muonium-antimuonium oscillations. A possible new search for μ→eγ is also mentioned

  19. Nance-Horan Syndrome: A Rare Case Report.

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  20. Nance–Horan syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Shambhu Sharma

    2017-01-01

    Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  1. Nance–Horan Syndrome: A Rare Case Report

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome. PMID:29042737

  2. 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...

  3. Rare earths

    International Nuclear Information System (INIS)

    1984-01-01

    The conference was held from September 12 to 13, 1984 in Jetrichovice, Czechoslovakia. The participants heard 16 papers of which 4 were inputted in INIS. These papers dealt with industrial separation processes of rare earths, the use of chemical methods of separation from the concentrate of apatite and bastnesite, the effect of the relative permittivity of solvents in the elution of rare earth elements from a cation exchanger, and the determination of the content of different rare earth elements using X-ray fluorescence analysis and atomic absorption spectroscopy. (E.S.)

  4. Rare particles

    International Nuclear Information System (INIS)

    Kutschera, W.

    1984-01-01

    The use of Accelerator Mass Spectrometry (AMS) to search for hypothetical particles and known particles of rare processes is discussed. The hypothetical particles considered include fractionally charged particles, anomalously heavy isotopes, and superheavy elements. The known particles produced in rare processes discussed include doubly-charged negative ions, counting neutrino-produced atoms in detectors for solar neutrino detection, and the spontaneous emission of 14 C from 223 Ra. 35 references

  5. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

    Science.gov (United States)

    Melo, Débora Gusmão; de Paula, Pamela Karen; de Araujo Rodrigues, Stephania; da Silva de Avó, Lucimar Retto; Germano, Carla Maria Ramos; Demarzo, Marcelo Marcos Piva

    2015-07-01

    As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil. It is a descriptive survey study, whereby doctors, nurses, and dentists were invited to participate by answering a questionnaire including 11 issues based on competencies established by the NCHPEG. Data were presented as percentages. Differences between groups of participants were assessed by the Fisher exact test, with the level of significance set at p < 0.05. Results showed that concerning knowledge, about 80 % of the participants recognized basic genetics terminology, but practitioners had difficulty in identifying patterns of inheritance. Regarding clinical skills, practitioners were able to recognize facial dysmorphias and identify situations where referral of patients to specialists was necessary. Nevertheless, there were challenges in the process of valuing and gathering information about family history. Regarding attitudes, 68.9 % of the participants thought about the comprehensiveness of care but faced challenges in counselling parents. The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.

  6. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

    Directory of Open Access Journals (Sweden)

    Senthil Balasubramani

    2016-01-01

    Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

  7. Drugs for rare disorders.

    Science.gov (United States)

    Cremers, Serge; Aronson, Jeffrey K

    2017-08-01

    Estimates of the frequencies of rare disorders vary from country to country; the global average defined prevalence is 40 per 100 000 (0.04%). Some occur in only one or a few patients. However, collectively rare disorders are fairly common, affecting 6-8% of the US population, or about 30 million people, and a similar number in the European Union. Most of them affect children and most are genetically determined. Diagnosis can be difficult, partly because of variable presentations and partly because few clinicians have experience of individual rare disorders, although they may be assisted by searching databases. Relatively few rare disorders have specific pharmacological treatments (so-called orphan drugs), partly because of difficulties in designing trials large enough to determine benefits and harms alike. Incentives have been introduced to encourage the development of orphan drugs, including tax credits and research aids, simplification of marketing authorization procedures and exemption from fees, and extended market exclusivity. Consequently, the number of applications for orphan drugs has grown, as have the costs of using them, so much so that treatments may not be cost-effective. It has therefore been suggested that not-for-profit organizations that are socially motivated to reduce those costs should be tasked with producing them. A growing role for patient organizations, improved clinical and translational infrastructures, and developments in genetics have also contributed to successful drug development. The translational discipline of clinical pharmacology is an essential component in drug development, including orphan drugs. Clinical pharmacologists, skilled in basic pharmacology and its links to clinical medicine, can be involved at all stages. They can contribute to the delineation of genetic factors that determine clinical outcomes of pharmacological interventions, develop biomarkers, design and perform clinical trials, assist regulatory decision

  8. The greenhouse effect and extreme weather

    International Nuclear Information System (INIS)

    Groenaas, Sigbjoern; Kvamstoe, Nils Gunnar

    2002-01-01

    The article asserts that an anthropogenic global warming is occurring. This greenhouse effect is expected to cause more occurrences of extreme weather. It is extremely difficult, however, to relate specific weather catastrophes to global warming with certainty, since such extreme weather conditions are rare historically. The subject is controversial. The article also discusses the public debate and the risk of floods

  9. Statistics of Extremes

    KAUST Repository

    Davison, Anthony C.

    2015-04-10

    Statistics of extremes concerns inference for rare events. Often the events have never yet been observed, and their probabilities must therefore be estimated by extrapolation of tail models fitted to available data. Because data concerning the event of interest may be very limited, efficient methods of inference play an important role. This article reviews this domain, emphasizing current research topics. We first sketch the classical theory of extremes for maxima and threshold exceedances of stationary series. We then review multivariate theory, distinguishing asymptotic independence and dependence models, followed by a description of models for spatial and spatiotemporal extreme events. Finally, we discuss inference and describe two applications. Animations illustrate some of the main ideas. © 2015 by Annual Reviews. All rights reserved.

  10. Mid-crustal uranium and rare metal mineralisation in the Mount Isa Inlier: a genetic model for formation of orogenic uranium deposits

    OpenAIRE

    McGloin, Matthew

    2017-01-01

    Uranium mineralisation near Mount Isa in northwest Queensland, Australia, is widespread yet poorly understood. Within this region in the Western Fold Belt, one hundred and ninety uranium-rare metal occurrences are known. This uranium mineralisation is similar to worldwide examples of albitite-hosted or sodium-metasomatic uranium deposits, which host albite-carbonate ore zones enriched in incompatible elements. Various metal sources and ore-forming processes have been sugg...

  11. Genetic diversity and the mating system of a rare Mexican Piñon, Pinus pinceana, and a comparison with Pinus maximartinezii (Pinaceae)

    Science.gov (United States)

    F. Thomas Ledig; Miguel A. Capó-Arteaga; Paul D. Hodgskiss; Hassan Sbay; Celestino Flores-López; M. Thompson Conkle; Basilio Bermejo-Velázquez

    2001-01-01

    Weeping piñon (Pinus pinceana) has a restricted and fragmented range, trees are widely scattered within populations, and reproduction is limited. Nevertheless, genetic diversity was high; based on 27 isozyme loci in 18 enzyme systems, unbiased expected heterozygosity averaged 0.174. Differentiation also was high (FST = 0.152),...

  12. A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.

    Science.gov (United States)

    Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Davey Smith, G; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

    2016-08-01

    Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case-control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence.

  13. Extreme cosmos

    CERN Document Server

    Gaensler, Bryan

    2011-01-01

    The universe is all about extremes. Space has a temperature 270°C below freezing. Stars die in catastrophic supernova explosions a billion times brighter than the Sun. A black hole can generate 10 million trillion volts of electricity. And hypergiants are stars 2 billion kilometres across, larger than the orbit of Jupiter. Extreme Cosmos provides a stunning new view of the way the Universe works, seen through the lens of extremes: the fastest, hottest, heaviest, brightest, oldest, densest and even the loudest. This is an astronomy book that not only offers amazing facts and figures but also re

  14. Macrodystrophia Lipomatosa: A rare presentation | Kachewar ...

    African Journals Online (AJOL)

    Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in ...

  15. Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations

    NARCIS (Netherlands)

    Stein, Evan A.; Dann, Eldad J.; Wiegman, Albert; Skovby, Flemming; Gaudet, Daniel; Sokal, Etienne; Charng, Min-Ji; Mohamed, Mafauzy; Luirink, Ilse; Raichlen, Joel S.; Sundén, Mattias; Carlsson, Stefan C.; Raal, Frederick J.; Kastelein, John J. P.

    2017-01-01

    BACKGROUND Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been

  16. Overview of the biology of extreme events

    Science.gov (United States)

    Gutschick, V. P.; Bassirirad, H.

    2008-12-01

    . Effects on water and N cycles are already marked. Adaptive responses of plants are very irregularly distributed among species and genotypes, most adaptive responses having been lost over 20 My of minimal or virtually accidental genetic selection for correlated traits. Offsets of plant activity from those of pollinators and pests may amplify direct physiological effects on plants. Another extreme of interest is the insect-mediated mass dieoff of conifers across western North America tied to a rare combination of drought and year-long high temperatures.

  17. Severe/Extreme Hypertriglyceridemia and LDL Apheretic Treatment: Review of the Literature, Original Findings

    Directory of Open Access Journals (Sweden)

    Olga Diakoumakou

    2014-01-01

    Full Text Available Hypertriglyceridemia (HTG is a feature of numerous metabolic disorders including dyslipidemias, metabolic syndrome, and diabetes mellitus type 2 and can increase the risk of premature coronary artery disease. HTG may also be due to genetic factors (called primary HTG and particularly the severe/extreme HTG (SEHTG, which is a usually rare genetic disorder. Even rarer are secondary cases of SEHTG caused by autoimmune disease. This review considers the causes of SEHTG, and their management including treatment with low density lipoprotein apheresis and analyzes the original findings.

  18. Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.

    Science.gov (United States)

    Cacioppo, Cara N; Chandler, Ariel E; Towne, Meghan C; Beggs, Alan H; Holm, Ingrid A

    2016-01-01

    Much information on parental perspectives on the return of individual research results (IRR) in pediatric genomic research is based on hypothetical rather than actual IRR. Our aim was to understand how the expected utility to parents who received IRR on their child from a genetic research study compared to the actual utility of the IRR received. We conducted individual telephone interviews with parents who received IRR on their child through participation in the Manton Center for Orphan Disease Research Gene Discovery Core (GDC) at Boston Children's Hospital (BCH). Five themes emerged around the utility that parents expected and actually received from IRR: predictability, management, family planning, finding answers, and helping science and/or families. Parents expressing negative or mixed emotions after IRR return were those who did not receive the utility they expected from the IRR. Conversely, parents who expressed positive emotions were those who received as much or greater utility than expected. Discrepancies between expected and actual utility of IRR affect the experiences of parents and families enrolled in genetic research studies. An informed consent process that fosters realistic expectations between researchers and participants may help to minimize any negative impact on parents and families.

  19. Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling.

    Science.gov (United States)

    Vinciguerra, Margherita; Passarello, Cristina; Leto, Filippo; Cassarà, Filippo; Cannata, Monica; Maggio, Aurelio; Giambona, Antonino

    2015-04-01

    Nearly 1183 different molecular defects of the globin genes leading to hemoglobin variants have been identified (http://globin.bx.psu.edu) over the past decades. The purpose of this study was to report three cases, never described in the literature, of co-inheritance of three β hemoglobin variants with other alterations in globin genes and to evaluate the clinical significance to conduct an appropriate genetic counseling. We report the molecular study performed in three probands and their families, sampling during the screening program conducted at the Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at Villa Sofia-Cervello Hospital in Palermo, Italy. This work allowed us to describe the co-inheritance of three rare β hemoglobin variants with other alterations in globin genes: the β hemoglobin variant Hb Yaounde [β134(H12)Val>Ala], found for the first time in combination with ααα(anti3.7) arrangement, and the β hemoglobin variants Hb Görwihl [β5(A2)Pro>Ala] and Hb City of Hope [β69(E13)Gly>Ser], found both in association with β(0) -thalassemia. The present work emphasizes the importance of a careful evaluation of the hematological data, especially in cases of atypical hematological parameters, to carry out an adequate and complete molecular study and to formulate an appropriate genetic counseling for couples at risk. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Rare earth metals, rare earth hydrides, and rare earth oxides as thin films

    International Nuclear Information System (INIS)

    Gasgnier, M.

    1980-01-01

    The review deals with pure rare earth materials such as rare earth metals, rare earth hydrides, and rare earth oxides as thin films. Several preparation techniques, control methods, and nature of possible contaminations of thin films are described. These films can now be produced in an extremely well-known state concerning chemical composition, structure and texture. Structural, electric, magnetic, and optical properties of thin films are studied and discussed in comparison with the bulk state. The greatest contamination of metallic rare earth thin films is caused by reaction with hydrogen or with water vapour. The compound with an f.c.c. structure is the dihydride LnH 2 (Ln = lanthanides). The oxygen contamination takes place after annealing at higher temperatures. Then there appears a compound with a b.c.c. structure which is the C-type sesquioxide C-Ln 2 O 3 . At room atmosphere dihydride light rare earth thin films are converted to hydroxide Ln(OH) 3 . For heavy rare earth thin films the oxinitride LnNsub(x)Osub(y) is observed. The LnO-type compound was never seen. The present review tries to set the stage anew for the investigations to be undertaken in the future especially through the new generations of electron microscopes

  1. Pertussis toxins, other antigens become likely targets for genetic engineering

    Energy Technology Data Exchange (ETDEWEB)

    Marwick, C.

    1990-11-14

    Genetically engineered pertussis vaccines have yet to be fully tested clinically. But early human, animal, and in vitro studies indicate effectiveness in reducing toxic effects due to Bordetella pertussis. The licensed pertussis vaccines consists of inactivated whole cells of the organism. Although highly effective, they have been associated with neurologic complications. While the evidence continues to mount that these complications are extremely rare, if they occur at all, it has affected the public's acceptance of pertussis immunization.

  2. Early support and early intervention as a support for the child and their family based on the biographies of parents of children with rare genetic diseases

    Directory of Open Access Journals (Sweden)

    Urszula Klajmon-Lech

    2016-12-01

    Full Text Available Receiving information on child’s disease or disability is a very difficult and often traumatic experience for the parents. Researchers investigating this issue indicate an array of negative parental emotional reactions such as: a sense of loss, loneliness, shock, mutual blaming, uncertainty, anxiety. Early intervention, understood as interdisciplinary services provided by physiotherapists, doctors, pedagogues, psychologists, and other specialists in the first years of child’s life, is equally needed by both children themselves and their parents, who, owing to the provided education and support, mature to the role of a parent-caretaker-therapist. The paper will address the results of a research conducted among parents of children with rare genetic diseases. The respondents shared their experiences associated with early intervention, assessed the quality of the received support as well as its effects on the child and the family. The study was conducted based on qualitative research methodology. I conducted narrative interviews with the mothers and fathers of children affected by rare chromosomal disorders. The analysis of narration focused on the experiences associated with implemented or non-implemented early intervention. Some of the parents of children with rare chromosomal syndromes had no opportunity to participate in early intervention; respondents in this group complained about specialists ignoring the reported problems and described disease symptoms as well as being involved in a “therapeutic pursuit” for a long time. The other group included parents participating in early intervention programmes. The experience of a rare disease increased their need to expand their knowledge on the disease and treatment options, which certainly presented a significant challenge for specialists. However, even in such a difficult situation it is possible to implement a model early intervention programme, as

  3. Rapid adaptation of microalgae to bodies of water with extreme pollution from uranium mining: an explanation of how mesophilic organisms can rapidly colonise extremely toxic environments.

    Science.gov (United States)

    García-Balboa, C; Baselga-Cervera, B; García-Sanchez, A; Igual, J M; Lopez-Rodas, V; Costas, E

    2013-11-15

    Extreme environments may support communities of microalgae living at the limits of their tolerance. It is usually assumed that these extreme environments are inhabited by extremophile species. However, global anthropogenic environmental changes are generating new extreme environments, such as mining-effluent pools of residual waters from uranium mining with high U levels, acidity and radioactivity in Salamanca (Spain). Certain microalgal species have rapidly adapted to these extreme waters (uranium mining in this area began in 1960). Experiments have demonstrated that physiological acclimatisation would be unable to achieve adaptation. In contrast, rapid genetic adaptation was observed in waters ostensibly lethal to microalgae by means of rare spontaneous mutations that occurred prior to the exposure to effluent waters from uranium mining. However, adaptation to the most extreme conditions was only possible after recombination through sexual mating because adaptation requires more than one mutation. Microalgae living in extreme environments could be the descendants of pre-selective mutants that confer significant adaptive value to extreme contamination. These "lucky mutants" could allow for the evolutionary rescue of populations faced with rapid environmental change. Copyright © 2013 Elsevier B.V. All rights reserved.

  4. Os Odontoideum: Rare Cervical Lesion

    Directory of Open Access Journals (Sweden)

    Kristie A Robson

    2011-05-01

    Full Text Available We report the case of a 22-year-old Marine who presented to the emergency department, after a martial arts exercise, with transient weakness and numbness in all extremities. Computed tomography cervical spine radiographs revealed os odontoideum. Lateral flexion–extension radiographs identified atlanto-axillary instability. This abnormality is rare and can be career ending for military members who do not undergo surgical fusion. [West J Emerg Med. 2011;12(4:520–522.

  5. Macrodystrophia lipomatosa: a rare presentation

    Directory of Open Access Journals (Sweden)

    Sushil G. Kachewar

    2011-07-01

    Full Text Available Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue and bony enlargement. As imaging is the key to early diagnosis, findings on various modalities like plain radiographs, CT scan and MRI are highlighted here.

  6. The molecular genetics of holoprosencephaly.

    Science.gov (United States)

    Roessler, Erich; Muenke, Maximilian

    2010-02-15

    Holoprosencephaly (HPE) has captivated the imagination of Man for millennia because its most extreme manifestation, the single-eyed cyclopic newborn infant, brings to mind the fantastical creature Cyclops from Greek mythology. Attempting to understand this common malformation of the forebrain in modern medical terms requires a systematic synthesis of genetic, cytogenetic, and environmental information typical for studies of a complex disorder. However, even with the advances in our understanding of HPE in recent years, there are significant obstacles remaining to fully understand its heterogeneity and extensive variability in phenotype. General lessons learned from HPE will likely be applicable to other malformation syndromes. Here we outline the common, and rare, genetic and environmental influences on this conserved developmental program of forebrain development and illustrate the similarities and differences between these malformations in humans and those of animal models. 2010 Wiley-Liss, Inc.

  7. Extremely 54Cr- and 50Ti-rich Presolar Oxide Grains in a Primitive Meteorite: Formation in Rare Types of Supernovae and Implications for the Astrophysical Context of Solar System Birth

    Science.gov (United States)

    Nittler, Larry R.; O’D. Alexander, Conel M.; Liu, Nan; Wang, Jianhua

    2018-04-01

    We report the identification of 19 presolar oxide grains from the Orgueil CI meteorite with substantial enrichments in 54Cr, with 54Cr/52Cr ratios ranging from 1.2 to 56 times the solar value. The most enriched grains also exhibit enrichments at mass-50, most likely due in part to 50Ti, but close-to-normal or depleted 53Cr/52Cr ratios. There is a strong inverse relationship between 54Cr enrichment and grain size; the most extreme grains are all attractive, as these likely occur much more frequently than high-density SN Ia, and their evolutionary timescales (∼20 Myr) are comparable to those of molecular clouds. Self-pollution of the Sun’s parent cloud from an ECSN may explain the heterogeneous distribution of n-rich isotopic anomalies in planetary materials, including a recently reported dichotomy in Mo isotopes in the solar system. The stellar origins of three grains with solar 54Cr/52Cr, but anomalies in 50Cr or 53Cr, as well as of a grain enriched in 57Fe, are unclear.

  8. Haplotype Analysis Discriminates Genetic Risk for DR3-Associated Endocrine Autoimmunity and Helps Define Extreme Risk for Addison’s Disease

    Science.gov (United States)

    Baker, Peter R.; Baschal, Erin E.; Fain, Pam R.; Triolo, Taylor M.; Nanduri, Priyaanka; Siebert, Janet C.; Armstrong, Taylor K.; Babu, Sunanda R.; Rewers, Marian J.; Gottlieb, Peter A.; Barker, Jennifer M.; Eisenbarth, George S.

    2010-01-01

    Context: Multiple autoimmune disorders (e.g. Addison’s disease, type 1 diabetes, celiac disease) are associated with HLA-DR3, but it is likely that alleles of additional genes in linkage disequilibrium with HLA-DRB1 contribute to disease. Objective: The objective of the study was to characterize major histocompatability complex (MHC) haplotypes conferring extreme risk for autoimmune Addison’s disease (AD). Design, Setting, and Participants: Eighty-six 21-hydroxylase autoantibody-positive, nonautoimmune polyendocrine syndrome type 1, Caucasian individuals collected from 1992 to 2009 with clinical AD from 68 families (12 multiplex and 56 simplex) were genotyped for HLA-DRB1, HLA-DQB1, MICA, HLA-B, and HLA-A as well as high density MHC single-nucleotide polymorphism (SNP) analysis for 34. Main Outcome Measures: AD and genotype were measured. Result: Ninety-seven percent of the multiplex individuals had both HLA-DR3 and HLA-B8 vs. 60% of simplex AD patients (P = 9.72 × 10−4) and 13% of general population controls (P = 3.00 × 10−19). The genotype DR3/DR4 with B8 was present in 85% of AD multiplex patients, 24% of simplex patients, and 1.5% of control individuals (P = 4.92 × 10−191). The DR3-B8 haplotype of AD patients had HLA-A1 less often (47%) than controls (81%, P = 7.00 × 10−5) and type 1 diabetes patients (73%, P = 1.93 × 10−3). Analysis of 1228 SNPs across the MHC for individuals with AD revealed a shorter conserved haplotype (3.8) with the loss of the extended conserved 3.8.1 haplotype approximately halfway between HLA-B and HLA-A. Conclusion: Extreme risk for AD, especially in multiplex families, is associated with haplotypic DR3 variants, in particular a portion (3.8) but not all of the conserved 3.8.1 haplotype. PMID:20631027

  9. Genetic basis of olfactory cognition: extremely high level of DNA sequence polymorphism in promoter regions of the human olfactory receptor genes revealed using the 1000 Genomes Project dataset.

    Science.gov (United States)

    Ignatieva, Elena V; Levitsky, Victor G; Yudin, Nikolay S; Moshkin, Mikhail P; Kolchanov, Nikolay A

    2014-01-01

    The molecular mechanism of olfactory cognition is very complicated. Olfactory cognition is initiated by olfactory receptor proteins (odorant receptors), which are activated by olfactory stimuli (ligands). Olfactory receptors are the initial player in the signal transduction cascade producing a nerve impulse, which is transmitted to the brain. The sensitivity to a particular ligand depends on the expression level of multiple proteins involved in the process of olfactory cognition: olfactory receptor proteins, proteins that participate in signal transduction cascade, etc. The expression level of each gene is controlled by its regulatory regions, and especially, by the promoter [a region of DNA about 100-1000 base pairs long located upstream of the transcription start site (TSS)]. We analyzed single nucleotide polymorphisms using human whole-genome data from the 1000 Genomes Project and revealed an extremely high level of single nucleotide polymorphisms in promoter regions of olfactory receptor genes and HLA genes. We hypothesized that the high level of polymorphisms in olfactory receptor promoters was responsible for the diversity in regulatory mechanisms controlling the expression levels of olfactory receptor proteins. Such diversity of regulatory mechanisms may cause the great variability of olfactory cognition of numerous environmental olfactory stimuli perceived by human beings (air pollutants, human body odors, odors in culinary etc.). In turn, this variability may provide a wide range of emotional and behavioral reactions related to the vast variety of olfactory stimuli.

  10. Genetic basis of olfactory cognition: extremely high level of DNA sequence polymorphism in promoter regions of the human olfactory receptor genes revealed using the 1000 Genomes Project dataset

    Directory of Open Access Journals (Sweden)

    Elena V. Ignatieva

    2014-03-01

    Full Text Available The molecular mechanism of olfactory cognition is very complicated. Olfactory cognition is initiated by olfactory receptor proteins (odorant receptors, which are activated by olfactory stimuli (ligands. Olfactory receptors are the initial player in the signal transduction cascade producing a nerve impulse, which is transmitted to the brain. The sensitivity to a particular ligand depends on the expression level of multiple proteins involved in the process of olfactory cognition: olfactory receptor proteins, proteins that participate in signal transduction cascade, etc. The expression level of each gene is controlled by its regulatory regions, and especially, by the promoter (a region of DNA about 100–1000 base pairs long located upstream of the transcription start site. We analyzed single nucleotide polymorphisms using human whole-genome data from the 1000 Genomes Project and revealed an extremely high level of single nucleotide polymorphisms in promoter regions of olfactory receptor genes and HLA genes. We hypothesized that the high level of polymorphisms in olfactory receptor promoters was responsible for the diversity in regulatory mechanisms controlling the expression levels of olfactory receptor proteins. Such diversity of regulatory mechanisms may cause the great variability of olfactory cognition of numerous environmental olfactory stimuli perceived by human beings (air pollutants, human body odors, odors in culinary etc.. In turn, this variability may provide a wide range of emotional and behavioral reactions related to the vast variety of olfactory stimuli.

  11. Molecular and genetic characterization of the Ry adg locus on chromosome XI from Andigena potatoes conferring extreme resistance to potato virus Y.

    Science.gov (United States)

    Herrera, María Del Rosario; Vidalon, Laura Jara; Montenegro, Juan D; Riccio, Cinzia; Guzman, Frank; Bartolini, Ida; Ghislain, Marc

    2018-05-31

    We have elucidated the Andigena origin of the potato Ry adg gene on chromosome XI of CIP breeding lines and developed two marker assays to facilitate its introgression in potato by marker-assisted selection. Potato virus Y (PVY) is causing yield and quality losses forcing farmers to renew periodically their seeds from clean stocks. Two loci for extreme resistance to PVY, one on chromosome XI and the other on XII, have been identified and used in breeding. The latter corresponds to a well-known source of resistance (Solanum stoloniferum), whereas the one on chromosome XI was reported from S. stoloniferum and S. tuberosum group Andigena as well. To elucidate its taxonomic origin in our breeding lines, we analyzed the nucleotide sequences of tightly linked markers (M45, M6) and screened 251 landraces of S. tuberosum group Andigena for the presence of this gene. Our results indicate that the PVY resistance allele on chromosome XI in our breeding lines originated from S. tuberosum group Andigena. We have developed two marker assays to accelerate the introgression of Ry adg gene into breeding lines by marker-assisted selection (MAS). First, we have multiplexed RYSC3, M6 and M45 DNA markers flanking the Ry adg gene and validated it on potato varieties with known presence/absence of the Ry adg gene and a progeny of 6,521 individuals. Secondly, we developed an allele-dosage assay particularly useful to identify multiplex Ry adg progenitors. The assay based on high-resolution melting analysis at the M6 marker confirmed Ry adg plex level as nulliplex, simplex and duplex progenitors and few triplex progenies. These marker assays have been validated and can be used to facilitate MAS in potato breeding.

  12. Detecting rare variants in case-parents association studies.

    Directory of Open Access Journals (Sweden)

    Kuang-Fu Cheng

    Full Text Available Despite the success of genome-wide association studies (GWASs in detecting common variants (minor allele frequency ≥0.05 many suggested that rare variants also contribute to the genetic architecture of diseases. Recently, researchers demonstrated that rare variants can show a strong stratification which may not be corrected by using existing methods. In this paper, we focus on a case-parents study and consider methods for testing group-wise association between multiple rare (and common variants in a gene region and a disease. All tests depend on the numbers of transmitted mutant alleles from parents to their diseased children across variants and hence they are robust to the effect of population stratification. We use extensive simulation studies to compare the performance of four competing tests: the largest single-variant transmission disequilibrium test (TDT, multivariable test, combined TDT, and a likelihood ratio test based on a random-effects model. We find that the likelihood ratio test is most powerful in a wide range of settings and there is no negative impact to its power performance when common variants are also included in the analysis. If deleterious and protective variants are simultaneously analyzed, the likelihood ratio test was generally insensitive to the effect directionality, unless the effects are extremely inconsistent in one direction.

  13. Xeroderma pigmentosum: A rare case report with review of literature

    Directory of Open Access Journals (Sweden)

    B Anand

    2012-01-01

    Full Text Available Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to repair DNA damage caused by ultraviolet (UV light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. As such, individuals with the disease are often colloquially referred to as ′Children of the Night′. Mutations in XP genes that regulate nucleotide excision repair, not only predispose persons with xeroderma pigmentosum to multiple malignancies, but also promote premature cutaneous and ocular ageing, and in some cases promote progressive neurodegenerative changes. There is a great involvement of many parts of the body, especially head and neck. The oral manifestations are mainly related to the occurrence of malignant tumors in the lips, tongue and buccal mucosa. This paper reports a rare case of XP in a 40-year-old female presenting with dermatological, oral and ophthalmological involvement.

  14. Glomus tumor of penis- A rare case

    Directory of Open Access Journals (Sweden)

    Madhuri S. Kate

    2013-01-01

    Full Text Available Glomus tumors are rare, painful, and benign soft tissue tumors of the skin arising from the glomus body, an arteriovenous thermoregulatory structure. This lesion is usually found on the extremities. Glomus tumor involving the external genital organs including penis is extremely rare. Until now, only few cases have been reported in the available literature. A 22 year old male patient presented with a painful nodule over the penis. The pathologic diagnosis was glomus tumor of the glans penis. We report herewith a case of glomus tumor of penis diagnosed on histopathologic examination. Glomus tumor, being a benign neoplasm, complete extirpation of the glomus tumor is the treatment of choice.

  15. Rapid adaptation of microalgae to bodies of water with extreme pollution from uranium mining: An explanation of how mesophilic organisms can rapidly colonise extremely toxic environments

    Energy Technology Data Exchange (ETDEWEB)

    García-Balboa, C.; Baselga-Cervera, B. [Genetica, Facultad de Veterinaria, Universidad Complutense de Madrid, 28040 Madrid (Spain); García-Sanchez, A.; Igual, J.M. [Instituto de Recursos Naturales y Agrobiología de Salamanca (IRNASA-CSIC), PO Box 257, 37071 Salamanca (Spain); Lopez-Rodas, V. [Genetica, Facultad de Veterinaria, Universidad Complutense de Madrid, 28040 Madrid (Spain); Costas, E., E-mail: ecostas@vet.ucm.es [Genetica, Facultad de Veterinaria, Universidad Complutense de Madrid, 28040 Madrid (Spain)

    2013-11-15

    Highlights: •Some microalgae species survive to extreme environments in ponds of residual waters from uranium mining. •Adaptation of microalgae to U arose very fast. •Spontaneous mutations that confer large adaptive value were able to produce the adaptation to residual waters of U mining. •Adaptation to more extreme waters of U mining is only possible after the recombination subsequent to sexual mating. •Resistant microalgae bio-adsorbs uranium to the cell wall and internalises uranium inside the cytoplasm. -- Abstract: Extreme environments may support communities of microalgae living at the limits of their tolerance. It is usually assumed that these extreme environments are inhabited by extremophile species. However, global anthropogenic environmental changes are generating new extreme environments, such as mining-effluent pools of residual waters from uranium mining with high U levels, acidity and radioactivity in Salamanca (Spain). Certain microalgal species have rapidly adapted to these extreme waters (uranium mining in this area began in 1960). Experiments have demonstrated that physiological acclimatisation would be unable to achieve adaptation. In contrast, rapid genetic adaptation was observed in waters ostensibly lethal to microalgae by means of rare spontaneous mutations that occurred prior to the exposure to effluent waters from uranium mining. However, adaptation to the most extreme conditions was only possible after recombination through sexual mating because adaptation requires more than one mutation. Microalgae living in extreme environments could be the descendants of pre-selective mutants that confer significant adaptive value to extreme contamination. These “lucky mutants” could allow for the evolutionary rescue of populations faced with rapid environmental change.

  16. Rapid adaptation of microalgae to bodies of water with extreme pollution from uranium mining: An explanation of how mesophilic organisms can rapidly colonise extremely toxic environments

    International Nuclear Information System (INIS)

    García-Balboa, C.; Baselga-Cervera, B.; García-Sanchez, A.; Igual, J.M.; Lopez-Rodas, V.; Costas, E.

    2013-01-01

    Highlights: •Some microalgae species survive to extreme environments in ponds of residual waters from uranium mining. •Adaptation of microalgae to U arose very fast. •Spontaneous mutations that confer large adaptive value were able to produce the adaptation to residual waters of U mining. •Adaptation to more extreme waters of U mining is only possible after the recombination subsequent to sexual mating. •Resistant microalgae bio-adsorbs uranium to the cell wall and internalises uranium inside the cytoplasm. -- Abstract: Extreme environments may support communities of microalgae living at the limits of their tolerance. It is usually assumed that these extreme environments are inhabited by extremophile species. However, global anthropogenic environmental changes are generating new extreme environments, such as mining-effluent pools of residual waters from uranium mining with high U levels, acidity and radioactivity in Salamanca (Spain). Certain microalgal species have rapidly adapted to these extreme waters (uranium mining in this area began in 1960). Experiments have demonstrated that physiological acclimatisation would be unable to achieve adaptation. In contrast, rapid genetic adaptation was observed in waters ostensibly lethal to microalgae by means of rare spontaneous mutations that occurred prior to the exposure to effluent waters from uranium mining. However, adaptation to the most extreme conditions was only possible after recombination through sexual mating because adaptation requires more than one mutation. Microalgae living in extreme environments could be the descendants of pre-selective mutants that confer significant adaptive value to extreme contamination. These “lucky mutants” could allow for the evolutionary rescue of populations faced with rapid environmental change

  17. Rare suprasellar chordoid meningioma with INI1 gene mutation ...

    African Journals Online (AJOL)

    Background: Chordoid Meningioma is a rare brain tumour characterized genetically by loss of genetic material from chromosome 22q at cytogenetic level resulting in mutation of NF2 gene. Objectives and case report: In the present report, we described a rare case of suprasellar chordoid meningioma, which presented in a ...

  18. Genetic basis of rare blood group variants

    NARCIS (Netherlands)

    Wigman, L.

    2013-01-01

    A transfusion of donor red blood cells can be life saving In individuals with massive blood loss due to an accident or surgery or in individuals with constitutive anemia due to a defect in erythropoiesis. Donor blood can, however, not be simply transfused to every patient. When a recipient of a red

  19. Genetics Home Reference: diastrophic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition Diastrophic dwarfism DTD Related Information How are genetic conditions and ... 2 links) Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  20. Testicular calculus: A rare case.

    Science.gov (United States)

    Sen, Volkan; Bozkurt, Ozan; Demır, Omer; Tuna, Burcin; Yorukoglu, Kutsal; Esen, Adil

    2015-01-01

    Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus. Case hypothesis: Solid testicular lesions in young adults generally correspond to testicular cancer. Differential diagnosis should be done carefully. Future implications: In young adults with painful and solid testicular mass with hyperechogenic appearance on scrotal ultrasonography, testicular calculus must be kept in mind in differential diagnosis. Further reports on this topic may let us do more clear recommendations about the etiology and treatment of this rare disease.

  1. A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

    Science.gov (United States)

    Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

    2016-01-01

    46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

  2. Tooth-marked small theropod bone: an extremely rare trace

    DEFF Research Database (Denmark)

    Jacobsen, Aase Roland

    2001-01-01

    Tooth-marked dinosaur bones provide insight into feeding behaviours and biting strategies of theropod dinosaurs. The majority of theropod tooth marks reported to date have been found on herbivorous dinosaur bones, although some tyrannosaurid bones with tooth marks have also been reported. In 1988...

  3. A rare case of Charlin's syndrome

    Directory of Open Access Journals (Sweden)

    Mohit P Singh

    2017-01-01

    Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

  4. A Rare Seen Case Report: Sirenomelia

    Directory of Open Access Journals (Sweden)

    Nilay Piskinpasa

    2016-01-01

    Full Text Available Sirenomelia is a rare congenital anomaly characterized by abnormal development of the caudal body structures.The disease can be diagnosed antenatally by the careful ultrasound examination. In this paper we aimed to discuss a case which had one lower extremity,spinal angulations and anhydramnios image detected by ultrasound examination.We diagnosed sirenomelia after termination.

  5. Teratoid Wilms′ tumor - A rare renal tumor

    Directory of Open Access Journals (Sweden)

    Biswanath Mukhopadhyay

    2011-01-01

    Full Text Available Teratoid Wilms′ tumor is an extremely rare renal tumor. We report a case of unilateral teratoid Wilms′ tumor in a 4-year-old girl. The patient was admitted with a right-sided abdominal mass. The mass was arising from the right kidney. Radical nephrectomy was done and the patient had an uneventful recovery. Histopathology report showed teratoid Wilms′ tumor.

  6. Rare earth germanates

    International Nuclear Information System (INIS)

    Bondar', I.A.; Vinogradova, N.V.; Dem'yanets, L.N.

    1983-01-01

    Rare earth germanates attract close attention both as an independent class of compounds and analogues of a widely spread class of natural and synthetic minerals. The methods of rare earth germanate synthesis (solid-phase, hydrothermal) are considered. Systems on the basis of germanium and rare earth oxides, phase diagrams, phase transformations are studied. Using different chemical analysese the processes of rare earth germanate formation are investigated. IR spectra of alkali and rare earth metal germanates are presented, their comparative analysis being carried out. Crystal structures of the compounds, lattice parameters are studied. Fields of possible application of rare earth germanates are shown

  7. An Erupted Dilated Odontoma: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Gaurav Sharma

    2016-01-01

    Full Text Available A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.

  8. Rare case of acute dengue encephalitis with correlated MRI findings

    International Nuclear Information System (INIS)

    Mathew, Rishi Philip; Basti, Ram Shenoy; Hegde, Pavan; Devdas, Jaidev M.; Khan, Habeeb Ullah; Bukelo, Mario Joseph

    2014-01-01

    Dengue encephalitis is extremely rare, with most patients showing no significant abnormality on neuroimaging (CT/MRI). We report one of the very few documented cases of dengue encephalitis, with abnormal signal intensities on all major sequences on brain MRI.

  9. Parathyroid adenoma with concurrent toxic thyroid adenoma: A rare ...

    African Journals Online (AJOL)

    recognized phenomenon. Primary hyperparathyroidism due to parathyroid adenoma in association with thyroid adenoma is extremely rare. These cases can present a diagnostic and therapeutic challenge to the treating physician as the patient may ...

  10. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  11. Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

    Science.gov (United States)

    Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

    2005-12-01

    In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

  12. Mining with Rare Cases

    Science.gov (United States)

    Weiss, Gary M.

    Rare cases are often the most interesting cases. For example, in medical diagnosis one is typically interested in identifying relatively rare diseases, such as cancer, rather than more frequently occurring ones, such as the common cold. In this chapter we discuss the role of rare cases in Data Mining. Specific problems associated with mining rare cases are discussed, followed by a description of methods for addressing these problems.

  13. Extremely Preterm Birth

    Science.gov (United States)

    ... Events Advocacy For Patients About ACOG Extremely Preterm Birth Home For Patients Search FAQs Extremely Preterm Birth ... Spanish FAQ173, June 2016 PDF Format Extremely Preterm Birth Pregnancy When is a baby considered “preterm” or “ ...

  14. Rare earth sulfates

    International Nuclear Information System (INIS)

    Komissarova, L.N.; Shatskij, V.M.; Pokrovskij, A.N.; Chizhov, S.M.; Bal'kina, T.I.; Suponitskij, Yu.L.

    1986-01-01

    Results of experimental works on the study of synthesis conditions, structure and physico-chemical properties of rare earth, scandium and yttrium sulfates, have been generalized. Phase diagrams of solubility and fusibility, thermodynamic and crystallochemical characteristics, thermal stability of hydrates and anhydrous sulfates of rare earths, including normal, double (with cations of alkali and alkaline-earth metals), ternary and anion-mixed sulfates of rare earths, as well as their adducts, are considered. The state of ions of rare earths, scandium and yttrium in aqueous sulfuric acid solutions is discussed. Data on the use of rare earth sulfates are given

  15. Community Assembly Processes of the Microbial Rare Biosphere.

    Science.gov (United States)

    Jia, Xiu; Dini-Andreote, Francisco; Falcão Salles, Joana

    2018-03-14

    Our planet teems with microorganisms that often present a skewed abundance distribution in a local community, with relatively few dominant species coexisting alongside a high number of rare species. Recent studies have demonstrated that these rare taxa serve as limitless reservoirs of genetic diversity, and perform disproportionate types of functions despite their low abundances. However, relatively little is known about the mechanisms controlling rarity and the processes promoting the development of the rare biosphere. Here, we propose the use of multivariate cut-offs to estimate rare species and phylogenetic null models applied to predefined rare taxa to disentangle the relative influences of ecoevolutionary processes mediating the assembly of the rare biosphere. Importantly, the identification of the factors controlling rare species assemblages is critical for understanding the types of rarity, how the rare biosphere is established, and how rare microorganisms fluctuate over spatiotemporal scales, thus enabling prospective predictions of ecosystem responses. Copyright © 2018 Elsevier Ltd. All rights reserved.

  16. The rare peat moss Sphagnum wulfianum (Sphagnaceae) did not survive the last glacial period in northern European refugia.

    Science.gov (United States)

    Kyrkjeeide, Magni Olsen; Hassel, Kristian; Flatberg, Kjell I; Stenøien, Hans K

    2012-04-01

    Organisms may survive unfavorable conditions either by moving to more favorable areas by means of dispersal or by adapting to stressful environments. Pleistocene glacial periods represent extremely unfavorable conditions for the majority of life forms, especially sessile organisms. Many studies have revealed placements of refugial areas and postglacial colonization patterns of seed plants, but little is still known about areas of long-term survival and historical migration routes of bryophytes. Given overall differences in stress tolerance between seed plants and bryophytes, it is of interest to know whether bryophytes have survived periods of extreme climatic conditions better then seed plants in northern areas. The haploid and rarely spore-producing peat moss Sphagnum wulfianum is mostly found in areas that were covered by ice during the last glacial maximum. Twelve microsatellite markers were amplified from 43 populations (367 shoots) of this species, and data were analyzed using population genetic diversity statistics, Bayesian clustering methods, and coalescence-based inference tools to estimate historical and demographic parameters. Genetic diversity within populations was low, but populations were highly differentiated, with two main genetic clusters being recognized. The two main genetic groups have diverged quite recently in the Holocene, and the pattern of genetic variability and structuring gives no support for survival in Scandinavian refugia during the last glacial period in this species. The dispersal ability of this plant thus seems surprisingly high despite its infrequent spore production.

  17. Orbital lymphomatoid granulomatosis - a rare cause of proptosis

    Energy Technology Data Exchange (ETDEWEB)

    Du Toit, Jacqueline; Kilborn, Tracy [Department of Radiology, Red Cross Children' s Hospital, Rondebosch (South Africa); Eyssen, Ann van [Department of Oncology, Red Cross Children' s Hospital, Rondebosch (South Africa); Pillay, Komala [Department of Pathology, Red Cross Children' s Hospital, Rondebosch (South Africa)

    2015-07-15

    A 1-year-old girl with unilateral proptosis was found to have primary orbital lymphomatoid granulomatosis - a condition rarely occurring in children. This multisystem angiocentric, angiodestructive, lymphoproliferative disease typically involves the lungs, with ocular involvement being extremely uncommon. Our case serves to illustrate the imaging findings of this unusual condition and highlight a rare cause of proptosis. (orig.)

  18. Nodules on the Hair: A Rare Case of Mixed Piedra

    OpenAIRE

    Khatu, Swapna S; Poojary, Shital Amin; Nagpur, Niranjan G

    2013-01-01

    Piedra is a superficial fungal infection of the hair shaft characterized by nodules along the hair shaft. Black piedra affects the scalp hair more frequently than white piedra. Occurrence of both types of piedra simultaneously in a patient is extremely rare. We describe here a rare case of mixed piedra of scalp hair.

  19. Nodules on the hair: a rare case of mixed piedra.

    Science.gov (United States)

    Khatu, Swapna S; Poojary, Shital Amin; Nagpur, Niranjan G

    2013-10-01

    Piedra is a superficial fungal infection of the hair shaft characterized by nodules along the hair shaft. Black piedra affects the scalp hair more frequently than white piedra. Occurrence of both types of piedra simultaneously in a patient is extremely rare. We describe here a rare case of mixed piedra of scalp hair.

  20. Acquired ventricular septal defect: A rare sequel of blunt chest ...

    African Journals Online (AJOL)

    Ventricular septal defect (VSD) is the most common congenital cardiac lesion encountered worldwide. Only very rarely is it acquired, and causation through blunt injury in a child is extremely rare. A previously healthy 7‑year‑old boy suffered blunt chest trauma while at play. He presented 11 days later with features of acute ...

  1. Focal neuronal gigantism: a rare complication of therapeutic radiation.

    Science.gov (United States)

    Gaughen, J R; Bourne, T D; Aregawi, D; Shah, L M; Schiff, D

    2009-11-01

    Radiation therapy, a mainstay in the treatment of many brain tumors, results in a variety of well-documented acute and chronic complications. Isolated cortical damage following irradiation represents an extremely rare delayed therapeutic complication, described only twice in the medical literature. We report this rare delayed complication in a patient following treatment of a right frontal anaplastic oligodendroglioma.

  2. Twenty-First Century Diseases: Commonly Rare and Rarely Common?

    Science.gov (United States)

    Daunert, Sylvia; Sittampalam, Gurusingham Sitta; Goldschmidt-Clermont, Pascal J

    2017-09-20

    Alzheimer's drugs are failing at a rate of 99.6%, and success rate for drugs designed to help patients with this form of dementia is 47 times less than for drugs designed to help patients with cancers ( www.scientificamerican.com/article/why-alzheimer-s-drugs-keep-failing/2014 ). How can it be so difficult to produce a valuable drug for Alzheimer's disease? Each human has a unique genetic and epigenetic makeup, thus endowing individuals with a highly unique complement of genes, polymorphisms, mutations, RNAs, proteins, lipids, and complex sugars, resulting in distinct genome, proteome, metabolome, and also microbiome identity. This editorial is taking into account the uniqueness of each individual and surrounding environment, and stresses the point that a more accurate definition of a "common" disorder could be simply the amalgamation of a myriad of "rare" diseases. These rare diseases are being grouped together because they share a rather constant complement of common features and, indeed, generally respond to empirically developed treatments, leading to a positive outcome consistently. We make the case that it is highly unlikely that such treatments, despite their statistical success measured with large cohorts using standardized clinical research, will be effective on all patients until we increase the depth and fidelity of our understanding of the individual "rare" diseases that are grouped together in the "buckets" of common illnesses. Antioxid. Redox Signal. 27, 511-516.

  3. Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome

    Directory of Open Access Journals (Sweden)

    Preetha Balaji

    2017-01-01

    Full Text Available Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

  4. Reinfection And Bilateral Infection : Two Rare Manifestations Of Sporotrichosis

    Directory of Open Access Journals (Sweden)

    Maiti P. K

    1999-01-01

    Full Text Available The localization of sporotrichosis is determined by the site of dermal injury by means of which the infective spores are introduced into subcutanceous tissue, but the reports of reinfection or bilateral infection are extremely rare. Although the probability of such occurrence is high in endemic areas, the rare incidence may be due to acquired host defense, a subject of much speculation. Two such rare cases are presented and some reports of cross infections of the disease are reviewed.

  5. Rare case of gastrointestinal stromal tumor of the anal canal

    Directory of Open Access Journals (Sweden)

    Madhu Kumar

    2013-01-01

    Full Text Available Gastrointestinal stromal tumor (GIST is a rare mesenchymal neoplasm of the gastrointestinal tract. GIST of anal canal is very rare representing only 3% of all anorectal mesenchymal tumors. We report an extremely rare case of GIST of the anal canal in 60-years-old man with history of irregular bowel habits with dark colored stool mixed with blood and constipation from 6 month. Diagnosis was made on the basis of histomorphological and immunohistochemical examination.

  6. Focal dermal hypoplasia: A rare case report

    Directory of Open Access Journals (Sweden)

    Sahana M Srinivas

    2015-01-01

    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

  7. Aging in Rare Intellectual Disability Syndromes

    Science.gov (United States)

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  8. Rare lung cancers

    International Nuclear Information System (INIS)

    Berzinec, P.

    2013-01-01

    The RARECARE Project (Rare Cancers in the Europe) supported by the European Union defined the rare cancers by the incidence rate of less than 6/100 000. There are several variants of lung cancer which are rare according to this definition. From the clinical point of view the most interesting are the rare adenocarcinomas and large cell neuroendocrine carcinoma. There are important differences in the diagnostic probability of EGFR and ALK mutations in the mutinous and non-mucin ous adenocarcinomas, in the signet ring cell adenocarcinomas, and large cell carcinomas. The optimal chemotherapy for neuroendocrine large cell carcinomas remains undefined. There is only very limited number of clinical trials aimed on the rare lung cancers and actually none phase III trial. Rare lung cancers continue to be a challenge both for the laboratory and the clinical research. (author)

  9. Common and rare variants in the exons and regulatory regions of osteoporosis-related genes improve osteoporotic fracture risk prediction.

    Science.gov (United States)

    Lee, Seung Hun; Kang, Moo Il; Ahn, Seong Hee; Lim, Kyeong-Hye; Lee, Gun Eui; Shin, Eun-Soon; Lee, Jong-Eun; Kim, Beom-Jun; Cho, Eun-Hee; Kim, Sang-Wook; Kim, Tae-Ho; Kim, Hyun-Ju; Yoon, Kun-Ho; Lee, Won Chul; Kim, Ghi Su; Koh, Jung-Min; Kim, Shin-Yoon

    2014-11-01

    Osteoporotic fracture risk is highly heritable, but genome-wide association studies have explained only a small proportion of the heritability to date. Genetic data may improve prediction of fracture risk in osteopenic subjects and assist early intervention and management. To detect common and rare variants in coding and regulatory regions related to osteoporosis-related traits, and to investigate whether genetic profiling improves the prediction of fracture risk. This cross-sectional study was conducted in three clinical units in Korea. Postmenopausal women with extreme phenotypes (n = 982) were used for the discovery set, and 3895 participants were used for the replication set. We performed targeted resequencing of 198 genes. Genetic risk scores from common variants (GRS-C) and from common and rare variants (GRS-T) were calculated. Nineteen common variants in 17 genes (of the discovered 34 functional variants in 26 genes) and 31 rare variants in five genes (of the discovered 87 functional variants in 15 genes) were associated with one or more osteoporosis-related traits. Accuracy of fracture risk classification was improved in the osteopenic patients by adding GRS-C to fracture risk assessment models (6.8%; P risk in an osteopenic individual.

  10. Towards Rare Itemset Mining

    OpenAIRE

    Szathmary , Laszlo; Napoli , Amedeo; Valtchev , Petko

    2007-01-01

    site de la conférence : http://ictai07.ceid.upatras.gr/; International audience; We describe here a general approach for rare itemset mining. While mining literature has been almost exclusively focused on frequent itemsets, in many practical situations rare ones are of higher interest (e.g., in medical databases, rare combinations of symptoms might provide useful insights for the physicians). Based on an examination of the relevant substructures of the mining space, our approach splits the ra...

  11. Rare earth elements and permanent magnets (invited)

    Science.gov (United States)

    Dent, Peter C.

    2012-04-01

    Rare earth (RE) magnets have become virtually indispensible in a wide variety of industries such as aerospace, automotive, electronics, medical, and military. RE elements are essential ingredients in these high performance magnets based on intermetallic compounds RECo5, RE2TM17 (TM: transition metal), and RE2TM14B. Rare earth magnets are known for their superior magnetic properties—high induction, and coercive force. These properties arise due to the extremely high magnetocrystalline anisotropy made possible by unique 3d-4f interactions between transition metals and rare earths. For more than 40 years, these magnets remain the number one choice in applications that require high magnetic fields in extreme operating conditions—high demagnetization forces and high temperature. EEC produces and specializes in RECo5 and RE2TM17 type sintered magnets. Samarium and gadolinium are key RE ingredients in the powder metallurgical magnet production processes which include melting, crushing, jet milling, pressing, sintering, and heat treating. The magnetic properties and applications of these magnets will be discussed. We will also briefly discuss the past, current, and future of the permanent magnet business. Currently, over 95% of all pure rare earth oxides are sourced from China, which currently controls the market. We will provide insights regarding current and potential new magnet technologies and designer choices, which may mitigate rare earth supply chain issues now and into the future.

  12. Angiomyolipoma and Malignant PEComa: Discussion of Two Rare Adrenal Tumors

    Directory of Open Access Journals (Sweden)

    Douglas Kwazneski II

    2016-01-01

    Full Text Available Angiomyolipoma and PEComa are rare tumors descending from perivascular epithelial cells (PECs, with distinctive IHC, morphological, and ultrastructural features. The kidney is the most frequent site of origin, but not the only one; however, adrenal gland angiomyolipomas are extremely rare. We describe two cases being found in the adrenal glands. Given the paucity of literature on the subject, more information on this disease is necessary for diagnosis and treatment. Here, we describe two complete case reports, from presentation to treatment and follow-up, along with imaging and microscopic pathology samples, and provide a comprehensive review as to the history and current literature available regarding these extremely rare tumors.

  13. Rare earth octacyanomolybdates(4)

    International Nuclear Information System (INIS)

    Zubritskaya, D.I.; Sergeeva, A.N.; Pisak, Yu.V.

    1980-01-01

    Optimal conditions for synthesis of rare-earth octacyanomolybdates(4) of the Ln 4 [Mo(CN) 8 ] 3 xnH 2 O composition (where Ln is a rare-earth element, other than Pr, Pm, Lu, Tb) have been worked out. The synthesis has been accomplished by neutralization with octacianomolybdic acid with rare-earth carbonates. The composition and structure of the compounds synthesized have been studied by infrared-spectroscopy. It has been established that rare-earth octacyanomolybdates(4) form three isostructural groups

  14. Two rare cases of laryngeal intralymphatic histiocytosis

    DEFF Research Database (Denmark)

    Reznitsky, Martin; Daugaard, Søren; Charabi, Birgitte Wittenborg

    2016-01-01

    We report two rare cases of intralymphatic histiocytosis causing, respectively, recurrent and persistent episodes of upper airway swelling and breathing difficulties. Case 1 was a 39-year-old man who was referred with recurrent upper airway swelling causing difficulty in breathing. A direct....... Extensive investigations were performed but discovered no abnormal findings. He received CO2 laser treatment twice and the swelling decreased. Intralymphatic histiocytosis is extremely rare in upper airway pathology. It is an important differential diagnosis in patients with recurrent and chronic laryngeal...

  15. A rare presentation of hydatid cyst

    International Nuclear Information System (INIS)

    Sabir, N.; Yildirim, B.; Alatas, E.; Cetin, B.

    2005-01-01

    Hydatid disease, although known to occur in most body areas, is extremely rare in the female reproductive system. There are different modes of presentation for the disease; however, we report and discuss a case presented with cystic vesicles passing through the vagina, which is considered as a rare presentation for secondary involvement of the uterus and both ovaries. We confirmed diagnosis with radiological examinations and serological tests. We operated on the patient, and studied the excised cysts microscopically. The gynecologist should be aware of hydatid cyst when vaginally passing a grape like vesicle is presented by the patient. (author)

  16. Xanthogranulomatous Prostatitis, a Rare Prostatic Entity

    Directory of Open Access Journals (Sweden)

    Alejandro Noyola

    2017-01-01

    Full Text Available There are several benign prostatic pathologies that can clinically mimic a prostate adenocarcinoma. Xanthogranulomatous prostatitis is a benign inflammatory condition of the prostate and a rare entity. A 47-year old male, with 3 years of lower urinary tract symptoms, with a palpable hypogastric tumor, digital rectal examination: solid prostate, of approximately 60 g. Initial PSA was 0.90 ng/mL. He underwent surgical excision of the lower abdominal nodule and prostatectomy. Histopathology showed xanthogranulomatous prostatitis, without malignancy. Xanthogranulomatous prostatitis is an extremely rare entity that can simulate prostate adenocarcinoma, therefore having a correct histopathological diagnosis is essential.

  17. Neurothekeoma of petrous apex: A rare entity

    Directory of Open Access Journals (Sweden)

    Zarina Abdul Assis

    2013-01-01

    Full Text Available Intraosseous nerve sheath tumors are very rare tumors accounting for lesser than 0.2% of primary bone tumors. We present an 18-year-old female who presented with left facial paresis for the last 1 year. Magnetic resonance imaging (MRI demonstrated expansile, multiseptated, enhancing bony lesion in the left petrous apex. There was also abnormal enhancement of the 7-8 th nerve complex within the internal auditory canal. Tumor was excised by subtemporal extradural approach. The lesion was diagnosed as intraosseous neurothekeoma on histopathology. This is an extremely rare tumor and its MRI appearance in this location is being described for the first time in literature.

  18. Enzymatic approaches to rare sugar production.

    Science.gov (United States)

    Zhang, Wenli; Zhang, Tao; Jiang, Bo; Mu, Wanmeng

    Rare sugars have recently attracted much attention because of their potential applications in the food, nutraceutical, and pharmaceutical industries. A systematic strategy for enzymatic production of rare sugars, named Izumoring, was developed >10years ago. The strategy consists of aldose-ketose isomerization, ketose C-3 epimerization, and monosaccharide oxidation-reduction. Recent development of the Izumoring strategy is reviewed herein, especially the genetic approaches to the improvement of rare sugar-producing enzymes and the applications of target-oriented bioconversion. In addition, novel non-Izumoring enzymatic approaches are also summarized, including enzymatic condensation, phosphorylation-dephosphorylation cascade reaction, aldose epimerization, ulosonic acid decarboxylation, and biosynthesis of rare disaccharides. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Effect of RareGenetic Variants in the β2 Adrenergic Receptor Geneon the Risk for Exacerbations and Symptom Control During Long-Acting Beta Agonist Treatment in a Multi-Ethnic Asthma Population

    Science.gov (United States)

    Ortega, Victor E.; Hawkins, Gregory A.; Moore, Wendy C.; Hastie, Annette T.; Ampleford, Elizabeth J.; Busse, William W.; Castro, Mario; Chardon, Domingo; Erzurum, Serpil C.; Israel, Elliot; Montealegre, Federico; Wenzel, Sally E.; Peters, Stephen P.; Meyers, Deborah A.; Bleecker, Eugene R.

    2014-01-01

    Background Severe adverse life-threatening events associated with long-acting beta agonists (LABA) use have caused the FDA to review LABA safety which has resulted in a boxed warning and a mandatory LABA safety study in 46,800 asthmatics. Identification of an at-risk, susceptible subpopulation using predictive biomarkers is critical in understanding LABA safety. The β2-adrenergic receptor gene (ADRB2) contains a common, nonsynonymous single nucleotide polymorphism, Gly16Arg, that is unlikely to account for rare, life-threatening events. We hypothesize that rare ADRB2 variants with strong effects modulate therapeutic responses to long-acting beta agonist (LABA) therapy and contribute to rare, severe adverse events. Methods ADRB2 was sequenced in 197 African Americans, 191 non-Hispanic Whites, and 73 Puerto Ricans. Sequencing identified six rare variants which were genotyped in 1,165 asthmatics (total=1,626). The primary hypothesis was that severe asthma exacerbations requiring hospitalization were associated with rare ADRB2 variants. Replication was performed in 659 non-Hispanic White asthma subjects. Findings Asthmatics receiving LABA with a rare variant had increased asthma-related hospitalizations (meta-analysis for all ethnic groups: p=2·83 × 10−4), specifically LABA-treated non-Hispanic Whites with the rare Ile164 allele (only rare variant in Whites, OR4·48, 95% CI 1·40–14·0, p=0·01) and African Americans with a 25 base-pair promoter polynucleotide insertion (OR 13·43, 95% CI 2·02–265·4, p=0·006). The subset of non-Hispanic Whites and African Americans receiving LABAs with these rare variants had increased exacerbations requiring urgent outpatient healthcare visits (non-Hispanic Whites with or without the rare Ile164 allele: 2·6 visits versus 1·1 visits, p=8·4 × 10−7 and African Americans with or without the rare insertion: 3·7 visits versus 2·4 visits, 0·01), and more frequently were treated with chronic systemic corticosteroids (OR4

  20. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  1. WHY ARE PULSAR PLANETS RARE?

    Energy Technology Data Exchange (ETDEWEB)

    Martin, Rebecca G.; Livio, Mario; Palaniswamy, Divya [Department of Physics and Astronomy, University of Nevada, Las Vegas, 4505 South Maryland Parkway, Las Vegas, NV 89154 (United States)

    2016-12-01

    Pulsar timing observations have revealed planets around only a few pulsars. We suggest that the rarity of these planets is due mainly to two effects. First, we show that the most likely formation mechanism requires the destruction of a companion star. Only pulsars with a suitable companion (with an extreme mass ratio) are able to form planets. Second, while a dead zone (a region of low turbulence) in the disk is generally thought to be essential for planet formation, it is most probably rare in disks around pulsars, because of the irradiation from the pulsar. The irradiation strongly heats the inner parts of the disk, thus pushing the inner boundary of the dead zone out. We suggest that the rarity of pulsar planets can be explained by the low probability for these two requirements to be satisfied: a very low-mass companion and a dead zone.

  2. Population structure analysis using rare and common functional variants

    Directory of Open Access Journals (Sweden)

    Ding Lili

    2011-11-01

    Full Text Available Abstract Next-generation sequencing technologies now make it possible to genotype and measure hundreds of thousands of rare genetic variations in individuals across the genome. Characterization of high-density genetic variation facilitates control of population genetic structure on a finer scale before large-scale genotyping in disease genetics studies. Population structure is a well-known, prevalent, and important factor in common variant genetic studies, but its relevance in rare variants is unclear. We perform an extensive population structure analysis using common and rare functional variants from the Genetic Analysis Workshop 17 mini-exome sequence. The analysis based on common functional variants required 388 principal components to account for 90% of the variation in population structure. However, an analysis based on rare variants required 532 significant principal components to account for similar levels of variation. Using rare variants, we detected fine-scale substructure beyond the population structure identified using common functional variants. Our results show that the level of population structure embedded in rare variant data is different from the level embedded in common variant data and that correcting for population structure is only as good as the level one wishes to correct.

  3. Variable ultrasonography findings of extremity lymphangioma: Pathologic correlation

    International Nuclear Information System (INIS)

    Oh, Jong Young; Nam, Kyung Jin; Lee, Ki Nam; Kim, Chan Sung; Lee, Jin Hwa; Kim, Dae Chul

    2002-01-01

    The great majority of lymphangiomas occur in the neck (75%) and axilla (20%), but extremity lymphangioma is rare. We correlate variable sonographic features of extremity lymphangioma with pathologic findings. We reviewed the sonographic findings of extremity lymphangioma in 14 patients (M:F=8:6). The all cases were histologically confirmed by operation. The variable sonographic features of extremity lymphangioma were compared to pathologic findings. The multilocular cystic mass with ill defined boundaries was distinctive sonographic appearance of extremity lymphangioma. But there were variable sonographic findings such as heterogeneous echogenic mass or homogeneous echogenic portion. The histologic section of echogenic lesion reveals clusters of abnormal

  4. Overview of rare B-decays

    CERN Document Server

    Prisciandaro, Jessica

    2017-01-01

    Being extremely suppressed in the Standard Model, rare decays of heavy-flavoured particles are a powerful probe of New Physics, and allow to reach energies beyond those accessible through direct searches. Several new results have been obtained by the LHC experiments. In particular, $b \\to sl^+l^-$ transitions give access to a large spectrum of observables, which provide complementary information on possible New Physics contributions. In this sector, tensions with Standard Model predictions have been observed.

  5. Attribution of extreme rainfall from Hurricane Harvey, August 2017

    NARCIS (Netherlands)

    Van Oldenborgh, Geert Jan; Van Der Wiel, Karin; Sebastian, A.G.; Singh, Roop; Arrighi, Julie; Otto, Friederike; Haustein, Karsten; Li, Sihan; Vecchi, Gabriel; Cullen, Heidi

    2017-01-01

    During August 25-30, 2017, Hurricane Harvey stalled over Texas and caused extreme precipitation, particularly over Houston and the surrounding area on August 26-28. This resulted in extensive flooding with over 80 fatalities and large economic costs. It was an extremely rare event: the return

  6. Ergotamine-induced upper extremity ischemia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Man Deuk; Lee, Gun [Bundang CHA General Hospital, Pochon (China); Shin, Sung Wook [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2005-06-15

    Ergotamine-induced limb ischemia is an extremely rare case. We present a case of a 64-year-old man, who developed ischemia on the right upper extremity due to long-term use of Ergot for migraine headache. Angiography revealed diffused, smooth, and tapered narrowing of the brachial artery. The patient was successfully treated with intravenous nitroprusside.

  7. Seasonal Climate Extremes : Mechanism, Predictability and Responses to Global Warming

    NARCIS (Netherlands)

    Shongwe, M.E.

    2010-01-01

    Climate extremes are rarely occurring natural phenomena in the climate system. They often pose one of the greatest environmental threats to human and natural systems. Statistical methods are commonly used to investigate characteristics of climate extremes. The fitted statistical properties are often

  8. Improving diversity in cultures of bacteria from an extreme environment.

    Science.gov (United States)

    Vester, Jan Kjølhede; Glaring, Mikkel Andreas; Stougaard, Peter

    2013-08-01

    The ikaite columns in the Ikka Fjord in Greenland represent one of the few permanently cold and alkaline environments on Earth, and the interior of the columns is home to a bacterial community adapted to these extreme conditions. The community is characterized by low cell numbers imbedded in a calcium carbonate matrix, making extraction of bacterial cells and DNA a challenge and limiting molecular and genomic studies of this environment. To utilize this genetic resource, cultivation at high pH and low temperature was studied as a method for obtaining biomass and DNA from the fraction of this community that would not otherwise be amenable to genetic analyses. The diversity and community dynamics in mixed cultures of bacteria from ikaite columns was investigated using denaturing gradient gel electrophoresis and pyrosequencing of 16S rDNA. Both medium composition and incubation time influenced the diversity of the culture and many hitherto uncharacterized genera could be brought into culture by extended incubation time. Extended incubation time also gave rise to a more diverse community with a significant number of rare species not detected in the initial community.

  9. Genetics Home Reference: Chanarin-Dorfman syndrome

    Science.gov (United States)

    ... disease with ichthyosis Triglyceride storage disease with ichthyosis triglyceride storage disease with impaired long-chain fatty acid ... Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  10. Rare Disease Video Portal

    OpenAIRE

    Sánchez Bocanegra, Carlos Luis

    2011-01-01

    Rare Disease Video Portal (RD Video) is a portal web where contains videos from Youtube including all details from 12 channels of Youtube. Rare Disease Video Portal (RD Video) es un portal web que contiene los vídeos de Youtube incluyendo todos los detalles de 12 canales de Youtube. Rare Disease Video Portal (RD Video) és un portal web que conté els vídeos de Youtube i que inclou tots els detalls de 12 Canals de Youtube.

  11. Rare earth germanates

    International Nuclear Information System (INIS)

    Bondar', I.A.; Vinogradova, N.V.; Dem'yanets, L.N.

    1983-01-01

    From the viewpoint of structural chemistry and general regularities controlling formation reactions of compounds and phases in melts, solid and gaseous states, recent achievements in the chemistry of rare earth germanates are generalized. Methods of synthesizing germanates, systems on the base of germanium oxides and rare earths are considered. The data on crystallochemical characteristics are tabulated. Individual compounds of scandium germanate are also characterized. Processes of germanate formation using the data of IR-spectroscopy, X-ray phase analysis are studied. The structure and morphotropic series of rare earth germanates and silicates are determined. Fields of their present and possible future application are considered

  12. Extreme environment electronics

    CERN Document Server

    Cressler, John D

    2012-01-01

    Unfriendly to conventional electronic devices, circuits, and systems, extreme environments represent a serious challenge to designers and mission architects. The first truly comprehensive guide to this specialized field, Extreme Environment Electronics explains the essential aspects of designing and using devices, circuits, and electronic systems intended to operate in extreme environments, including across wide temperature ranges and in radiation-intense scenarios such as space. The Definitive Guide to Extreme Environment Electronics Featuring contributions by some of the world's foremost exp

  13. Rare-earth elements

    Science.gov (United States)

    Van Gosen, Bradley S.; Verplanck, Philip L.; Seal, Robert R.; Long, Keith R.; Gambogi, Joseph; Schulz, Klaus J.; DeYoung,, John H.; Seal, Robert R.; Bradley, Dwight C.

    2017-12-19

    The rare-earth elements (REEs) are 15 elements that range in atomic number from 57 (lanthanum) to 71 (lutetium); they are commonly referred to as the “lanthanides.” Yttrium (atomic number 39) is also commonly regarded as an REE because it shares chemical and physical similarities and has affinities with the lanthanides. Although REEs are not rare in terms of average crustal abundance, the concentrated deposits of REEs are limited in number.Because of their unusual physical and chemical properties, the REEs have diverse defense, energy, industrial, and military technology applications. The glass industry is the leading consumer of REE raw materials, which are used for glass polishing and as additives that provide color and special optical properties to the glass. Lanthanum-based catalysts are used in petroleum refining, and cerium-based catalysts are used in automotive catalytic converters. The use of REEs in magnets is a rapidly increasing application. Neodymium-iron-boron magnets, which are the strongest known type of magnets, are used when space and weight are restrictions. Nickel-metal hydride batteries use anodes made of a lanthanum-based alloys.China, which has led the world production of REEs for decades, accounted for more than 90 percent of global production and supply, on average, during the past decade. Citing a need to retain its limited REE resources to meet domestic requirements as well as concerns about the environmental effects of mining, China began placing restrictions on the supply of REEs in 2010 through the imposition of quotas, licenses, and taxes. As a result, the global rare-earth industry has increased its stockpiling of REEs; explored for deposits outside of China; and promoted new efforts to conserve, recycle, and substitute for REEs. New mine production began at Mount Weld in Western Australia, and numerous other exploration and development projects noted in this chapter are ongoing throughout the world.The REE-bearing minerals are

  14. Coprecipitation of rare earth elements with hydroxyapatite

    International Nuclear Information System (INIS)

    Fujino, Osamu

    1979-01-01

    The distribution behavior of trace rare earth elements between an aqueous phase and hydroxyapatite crystals was investigated. The apatite prepared by adding phosphate ion extremely slowly to an aqueous solution containing calcium, rare earth elements, ethylenediamine and nitrilotriacetate ion at 80 0 C. Apparently the coprecipitation reaction seems to be anomalous, because the apparent distribution coefficient did not have a constant value through the reaction. But when the true distribution coefficient was calculated by using the thermodynamic data at 80 0 C, it was revealed that rare earth ions were coprecipitated obeying logarithmic distribution law. The true distribution coefficient values of trivalent yttrium, scandium, europium and cerium ions were about 10sup(7.3), 10sup(9.8), 10sup(7.4) and 10sup(6.5) respectively. (author)

  15. Reverse (posterior) cloaca with congenital rectal stenosis and pseudohermaphrodism: a rare entity with rare association

    Science.gov (United States)

    Ahmed, Intezar; Kureel, Shiv Narain; Chandra, Naveen

    2010-01-01

    Reverse (posterior) cloaca is itself a rare entity and association of this defect with other congenital syndromes or defects is extremely rare to find. To diagnose this unique anomaly one should be aware about this very infrequently encountered clinical entity. Reverse cloaca is a very rare variant of anorectal malformation in which urethra and vagina fused to form a urogenital sinus that diverts posteriorly and opens in the anterior rectal wall at the anus or immediately anterior to it. We report a neonate with the rare clinical entity of reverse cloaca type C, pseudophallus with rudimentary urethra as a component of female pseudohermaphrodism and congenital rectal stenosis. Surprisingly, there was no associated urological abnormality on ultrasonography and laparotomy. PMID:22797480

  16. Waardenburg syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Shivlal M Rawlani

    2018-01-01

    Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

  17. Analysis of rare categories

    CERN Document Server

    He, Jingrui

    2012-01-01

    This book focuses on rare category analysis where the majority classes have smooth distributions and the minority classes exhibit the compactness property. It focuses on challenging cases where the support regions of the majority and minority classes overlap.

  18. SYMPOSIUM: Rare decays

    Energy Technology Data Exchange (ETDEWEB)

    Anon.

    1989-04-15

    Late last year, a symposium entitled 'Rare Decays' attracted 115 participants to a hotel in Vancouver, Canada. These participants were particle physicists interested in checking conventional selection rules to look for clues of possible new behaviour outside today's accepted 'Standard Model'. For physicists, 'rare decays' include processes that have so far not been seen, explicitly forbidden by the rules of the Standard Model, or processes highly suppressed because the decay is dominated by an easier route, or includes processes resulting from multiple transitions.

  19. Extreme value distributions

    CERN Document Server

    Ahsanullah, Mohammad

    2016-01-01

    The aim of the book is to give a through account of the basic theory of extreme value distributions. The book cover a wide range of materials available to date. The central ideas and results of extreme value distributions are presented. The book rwill be useful o applied statisticians as well statisticians interrested to work in the area of extreme value distributions.vmonograph presents the central ideas and results of extreme value distributions.The monograph gives self-contained of theory and applications of extreme value distributions.

  20. Investigating Extreme Lifestyles through Mangrove Transcriptomics

    Science.gov (United States)

    Dassanayake, Maheshi

    2009-01-01

    Mangroves represent phylogenetically diverse taxa in tropical coastal terrestrial habitats. They are extremophiles, evolutionarily adapted to tolerate flooding, anoxia, high temperatures, wind, and high and extremely variable salt conditions in typically resource-poor environments. The genetic basis for these adaptations is, however, virtually…

  1. Understanding rare disease pathogenesis: a grand challenge for model organisms.

    Science.gov (United States)

    Hieter, Philip; Boycott, Kym M

    2014-10-01

    In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., "Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans," published in this issue of GENETICS. Copyright © 2014 by the Genetics Society of America.

  2. Rare earths and actinides

    International Nuclear Information System (INIS)

    Coqblin, B.

    1982-01-01

    This paper reviews the different properties of rare-earths and actinides, either as pure metals or as in alloys or compounds. Three different cases are considered: (i) First, in the case of 'normal' rare-earths which are characterized by a valence of 3, we discuss essentially the magnetic ordering, the coexistence between superconductivity and magnetism and the properties of amorphous rare-earth systems. (ii) Second, in the case of 'anomalous' rare-earths, we distinguish between either 'intermediate-valence' systems or 'Kondo' systems. Special emphasis is given to the problems of the 'Kondo lattice' (for compounds such as CeAl 2 ,CeAl 3 or CeB 6 ) or the 'Anderson lattice' (for compounds such as TmSe). The problem of neutron diffraction in these systems is also discussed. (iii) Third, in the case of actinides, we can separate between the d-f hybridized and almost magnetic metals at the beginning of the series and the rare-earth like the metals after americium. (orig.)

  3. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  4. Genetics Home Reference: geleophysic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition geleophysic dwarfism Related Information How are genetic conditions and genes ... and Rare Diseases Information Center (1 link) Geleophysic dwarfism Educational Resources (8 links) American Heart Association: Atrial ...

  5. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  6. Usher syndrome Type I in an adult Nepalese male: a rare case report.

    Science.gov (United States)

    Sahu, Sabin; Singh, Sanjay Kumar

    2017-07-01

    Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010). We report a case of Usher syndrome type I in an adult Nepalese male with typical congenital profound hearing loss, and night blindness secondary to retinitis pigmentosa. © NEPjOPH.

  7. SYMPOSIUM: Rare decays

    International Nuclear Information System (INIS)

    Anon.

    1989-01-01

    Late last year, a symposium entitled 'Rare Decays' attracted 115 participants to a hotel in Vancouver, Canada. These participants were particle physicists interested in checking conventional selection rules to look for clues of possible new behaviour outside today's accepted 'Standard Model'. For physicists, 'rare decays' include processes that have so far not been seen, explicitly forbidden by the rules of the Standard Model, or processes highly suppressed because the decay is dominated by an easier route, or includes processes resulting from multiple transitions

  8. A Fourier analysis of extreme events

    DEFF Research Database (Denmark)

    Mikosch, Thomas Valentin; Zhao, Yuwei

    2014-01-01

    The extremogram is an asymptotic correlogram for extreme events constructed from a regularly varying stationary sequence. In this paper, we define a frequency domain analog of the correlogram: a periodogram generated from a suitable sequence of indicator functions of rare events. We derive basic ...... properties of the periodogram such as the asymptotic independence at the Fourier frequencies and use this property to show that weighted versions of the periodogram are consistent estimators of a spectral density derived from the extremogram....

  9. How extreme is extreme hourly precipitation?

    Science.gov (United States)

    Papalexiou, Simon Michael; Dialynas, Yannis G.; Pappas, Christoforos

    2016-04-01

    The importance of accurate representation of precipitation at fine time scales (e.g., hourly), directly associated with flash flood events, is crucial in hydrological design and prediction. The upper part of a probability distribution, known as the distribution tail, determines the behavior of extreme events. In general, and loosely speaking, tails can be categorized in two families: the subexponential and the hyperexponential family, with the first generating more intense and more frequent extremes compared to the latter. In past studies, the focus has been mainly on daily precipitation, with the Gamma distribution being the most popular model. Here, we investigate the behaviour of tails of hourly precipitation by comparing the upper part of empirical distributions of thousands of records with three general types of tails corresponding to the Pareto, Lognormal, and Weibull distributions. Specifically, we use thousands of hourly rainfall records from all over the USA. The analysis indicates that heavier-tailed distributions describe better the observed hourly rainfall extremes in comparison to lighter tails. Traditional representations of the marginal distribution of hourly rainfall may significantly deviate from observed behaviours of extremes, with direct implications on hydroclimatic variables modelling and engineering design.

  10. Optimization with Extremal Dynamics

    International Nuclear Information System (INIS)

    Boettcher, Stefan; Percus, Allon G.

    2001-01-01

    We explore a new general-purpose heuristic for finding high-quality solutions to hard discrete optimization problems. The method, called extremal optimization, is inspired by self-organized criticality, a concept introduced to describe emergent complexity in physical systems. Extremal optimization successively updates extremely undesirable variables of a single suboptimal solution, assigning them new, random values. Large fluctuations ensue, efficiently exploring many local optima. We use extremal optimization to elucidate the phase transition in the 3-coloring problem, and we provide independent confirmation of previously reported extrapolations for the ground-state energy of ±J spin glasses in d=3 and 4

  11. Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

    Science.gov (United States)

    Chakrabarti, Subrata

    2015-03-01

    Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

  12. Surveillance of rare cancers

    NARCIS (Netherlands)

    van der Zwan, Johannes Martinus

    2016-01-01

    The widespread incidence and effects of cancer have led to a growing development in cancer prevention in the form of screening and research programs and cancer registries. Because of the low number of patients with rare cancers this improvement is not applied to the same extent to all cancer

  13. Afganistan and rare earths

    Directory of Open Access Journals (Sweden)

    Emilian M. Dobrescu

    2013-05-01

    Full Text Available On our planet, over a quarter of new technologies for the economic production of industrial goods, are using rare earths, which are also called critical minerals and industries that rely on these precious items being worth of an estimated nearly five trillion dollars, or 5 percent of world gross domestic product. In the near future, competition will increase for the control of rare earth minerals embedded in high-tech products. Rare minerals are in the twenty-first century what oil accounted for in the twentieth century and coal in the nineteenth century: the engine of a new industrial revolution. Future energy will be produced increasingly by more sophisticated technological equipment based not just on steel and concrete, but incorporating significant quantities of metals and rare earths. Widespread application of these technologies will result in an exponential increase in demand for such minerals, and what is worrying is that minerals of this type are almost nowhere to be found in Europe and in other industrialized countries in the world, such as U.S. and Japan, but only in some Asian countries, like China and Afghanistan.

  14. Magnetic rare earth superlattices

    DEFF Research Database (Denmark)

    Majkrzak, C.F.; Kwo, J.; Hong, M.

    1991-01-01

    Advances in molecular beam epitaxy deposition techniques have recently made it possible to grow, an atomic plane at a time, single crystalline superlattices composed of alternating layers of a magnetic rare earth, such as Gd, Dy, Ho, or Er, and metallic Y, which has an identical chemical structure...

  15. Classifying Returns as Extreme

    DEFF Research Database (Denmark)

    Christiansen, Charlotte

    2014-01-01

    I consider extreme returns for the stock and bond markets of 14 EU countries using two classification schemes: One, the univariate classification scheme from the previous literature that classifies extreme returns for each market separately, and two, a novel multivariate classification scheme tha...

  16. A Rare Cause of Testicular Metastasis: Upper Tract Urothelial Carcinoma

    Directory of Open Access Journals (Sweden)

    Alper Nesip Manav

    2014-01-01

    Full Text Available Metastatic testicular cancers are rare. Primary tumor sources are prostate, lung, and gastrointestinal tract for metastatic testicular cancers. Metastasis of urothelial carcinoma (UC to the testis is extremely rare. Two-thirds of upper tract urothelial carcinoma (UTUC is of invasive stage at diagnosis and metastatic sites are the pelvic lymph nodes, liver, lung, and bone. We report a rare case of metastatic UTUC to the testis which has not been reported before, except one case in the literature. Testicular metastasis of UC should be considered in patients with hematuria and testicular swelling.

  17. Scapulothoracic Dissociation: A Rare Variant: A Case Report

    Directory of Open Access Journals (Sweden)

    Rajat Jangir

    2014-07-01

    Full Text Available Scapulothoracic dissociation is a rare injury involving separation of scapula from the thorax along with the upper extremity. Majority of the patients have concomitant neurovascular injury and the prognosis is uniformly poor in such cases. We present a case of scapulothoracic dissociation with comminuted fracture of scapula and acromioclavicular joint disruption without neurovascular deficit. There were associated avulsion fractures of the spinous processes of vertebrae (T3-T5. Such presentation is rare in an already rare scapulothoracic dissociation injury. A discussion regarding the probable mechanism of injury, management and prognosis is presented.

  18. Sharing Rare Attitudes Attracts.

    Science.gov (United States)

    Alves, Hans

    2018-04-01

    People like others who share their attitudes. Online dating platforms as well as other social media platforms regularly rely on the social bonding power of their users' shared attitudes. However, little is known about moderating variables. In the present work, I argue that sharing rare compared with sharing common attitudes should evoke stronger interpersonal attraction among people. In five studies, I tested this prediction for the case of shared interests from different domains. I found converging evidence that people's rare compared with their common interests are especially potent to elicit interpersonal attraction. I discuss the current framework's theoretical implications for impression formation and impression management as well as its practical implications for improving online dating services.

  19. RARE BRANCHIAL ARCH ANOMALIES

    Directory of Open Access Journals (Sweden)

    Jayanta Kumar

    2016-03-01

    Full Text Available AIM Amongst the branchial arch anomalies third arch anomaly occurs rarely and more so the fourth arch anomalies. We present our experience with cases of rare branchial arch anomalies. PATIENTS AND METHODS From June 2006 to January 2016, cases having their external opening in the lower third of sternocleidomastoid muscle with the tract going through thyroid gland and directing to pyriform sinus (PFS or cysts with internal opening in the PFS were studied. RESULTS No fourth arch anomaly was encountered. One cyst with internal opening which later on formed a fistula, three fistulae from beginning and two sinuses were encountered. The main stay of diagnosis was the fistula in the PFS and the tract lying posterior to the internal carotid artery. Simple excision technique with a small incision around the external opening was done. There was no recurrence. CONCLUSION Third arch fistula is not very rare as it was thought. Internal fistula is found in most of the cases. Though radiological investigations are helpful, fistulae can be diagnosed clinically and during operation. Extensive operation of the neck, mediastinum and pharynx is not required.

  20. Essential thrombocythemia: a rare disease in childhood

    Directory of Open Access Journals (Sweden)

    Julia Maimone Beatrice

    2013-01-01

    Full Text Available Essential thrombocythemia is an acquired myeloproliferative disorder characterized by the proliferation of megakaryocytes in bone marrow, leading to a persistent increase in the number of circulating platelets and thus increasing the risk for thrombotic and hemorrhagic events. The disease features leukocytosis, splenomegaly, vascular occlusive events, hemorrhages and vasomotor disorders. The intricate mechanisms underlying the molecular pathogenesis of this disorder are not completely understood and are still a matter of discussion. Essential thrombocythemia is an extremely rare disorder during childhood. We report on a case of essential thrombocythemia in a child and discuss the diagnostic approach and treatment strategy.

  1. Rare royal families in honeybees, Apis mellifera

    Science.gov (United States)

    Moritz, Robin F. A.; Lattorff, H. Michael G.; Neumann, Peter; Kraus, F. Bernhard; Radloff, Sarah E.; Hepburn, H. Randall

    2005-10-01

    The queen is the dominant female in the honeybee colony, Apis mellifera, and controls reproduction. Queen larvae are selected by the workers and are fed a special diet (royal jelly), which determines caste. Because queens mate with many males a large number of subfamilies coexist in the colony. As a consequence, there is a considerable potential for conflict among the subfamilies over queen rearing. Here we show that honeybee queens are not reared at random but are preferentially reared from rare “royal” subfamilies, which have extremely low frequencies in the colony's worker force but a high frequency in the queens reared.

  2. Funiculitis mimicking appendicitis: A rare culprit

    Directory of Open Access Journals (Sweden)

    Lindsey L. Perea

    2017-01-01

    Full Text Available Acute appendicitis is an extremely common cause for pediatric admissions, most notably presenting with right lower quadrant pain. There are few other etiologies for a young male to have pain aside from appendicitis. We present a young boy who presented with right lower quadrant abdominal pain and fevers, but was found to have funiculitis. Funiculitis, or inflammation of the spermatic cord, is a very rare condition in the pediatric population, almost always occurring in the elderly with urinary flow conditions. We share our case to remind providers the importance of a full differential diagnosis.

  3. Extremal surface barriers

    International Nuclear Information System (INIS)

    Engelhardt, Netta; Wall, Aron C.

    2014-01-01

    We present a generic condition for Lorentzian manifolds to have a barrier that limits the reach of boundary-anchored extremal surfaces of arbitrary dimension. We show that any surface with nonpositive extrinsic curvature is a barrier, in the sense that extremal surfaces cannot be continuously deformed past it. Furthermore, the outermost barrier surface has nonnegative extrinsic curvature. Under certain conditions, we show that the existence of trapped surfaces implies a barrier, and conversely. In the context of AdS/CFT, these barriers imply that it is impossible to reconstruct the entire bulk using extremal surfaces. We comment on the implications for the firewall controversy

  4. Are quantitative trait-dependent sampling designs cost-effective for analysis of rare and common variants?

    Science.gov (United States)

    Yilmaz, Yildiz E; Bull, Shelley B

    2011-11-29

    Use of trait-dependent sampling designs in whole-genome association studies of sequence data can reduce total sequencing costs with modest losses of statistical efficiency. In a quantitative trait (QT) analysis of data from the Genetic Analysis Workshop 17 mini-exome for unrelated individuals in the Asian subpopulation, we investigate alternative designs that sequence only 50% of the entire cohort. In addition to a simple random sampling design, we consider extreme-phenotype designs that are of increasing interest in genetic association analysis of QTs, especially in studies concerned with the detection of rare genetic variants. We also evaluate a novel sampling design in which all individuals have a nonzero probability of being selected into the sample but in which individuals with extreme phenotypes have a proportionately larger probability. We take differential sampling of individuals with informative trait values into account by inverse probability weighting using standard survey methods which thus generalizes to the source population. In replicate 1 data, we applied the designs in association analysis of Q1 with both rare and common variants in the FLT1 gene, based on knowledge of the generating model. Using all 200 replicate data sets, we similarly analyzed Q1 and Q4 (which is known to be free of association with FLT1) to evaluate relative efficiency, type I error, and power. Simulation study results suggest that the QT-dependent selection designs generally yield greater than 50% relative efficiency compared to using the entire cohort, implying cost-effectiveness of 50% sample selection and worthwhile reduction of sequencing costs.

  5. Analysis of extreme events

    CSIR Research Space (South Africa)

    Khuluse, S

    2009-04-01

    Full Text Available ) determination of the distribution of the damage and (iii) preparation of products that enable prediction of future risk events. The methodology provided by extreme value theory can also be a powerful tool in risk analysis...

  6. Acute lower extremity ischaemia

    African Journals Online (AJOL)

    Acute lower extremity ischaemia. Acute lower limb ischaemia is a surgical emergency. ... is ~1.5 cases per 10 000 persons per year. Acute ischaemia ... Table 2. Clinical features discriminating embolic from thrombotic ALEXI. Clinical features.

  7. Monilethrix – Case report of a rare disease

    Directory of Open Access Journals (Sweden)

    Tasleem Arif

    2015-01-01

    Full Text Available Monilethrix is a rare genetic disorder of hair characterized by beaded appearance of the hair shaft leading to hair fragility and patchy dystrophic alopecia. In this disorder, the hair shaft has alternate widenings (nodes and constrictions (internodes that lead to fracture of hair shaft and varying degree of alopecia. We report an eight year old Kashmiri boy who presented with diffuse hair loss since infancy. As monilethrix is a rare disease entity which prompted us to report this case.

  8. Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

    Directory of Open Access Journals (Sweden)

    Tullu M

    1999-10-01

    Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

  9. Acute cholestatic hepatitis along with agranulocytosis: A rare side ...

    African Journals Online (AJOL)

    aplastic anemia, vasculitis and cholestatic hepatitis. The most common adverse effect is a maculo- papular pruritic rash, at times accompanied by fever.[2] Adverse reaction of these thioamides occurs in 3–12% of treated patients. Agranulocytosis and cholestatic hepatitis together is an extremely rare idiosyncratic side effect ...

  10. Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation

    Directory of Open Access Journals (Sweden)

    Shahina Bano

    2013-01-01

    Full Text Available Basal encephaloceles are extremely rare congenital malformations. Advanced cross-sectional imaging modalities like computed tomography and magnetic resonance imaging are necessary for diagnosing the asymptomatic, occult basal encephalocele and planning the surgical approach. We present an interesting case of clinically silent right-sided lateral intrasphenoidal encephalocele through a large bony defect.

  11. Costs and benefits of rare earth screens

    International Nuclear Information System (INIS)

    Taylor, F.E.

    1977-01-01

    The British Institute of Radiology has submitted evidence (Royal Commission on Environmental Pollution, 1976, Sixth Report, Nuclear Power and the Environment. Cmnd 6618, HMSO, London) leading to the conclusion that the introduction of rare earth screens in medical radiography is not financially practical at present in the U.K. This conclusion is questioned. The cost of reducing the genetic dose from medical radiography should be compared with the costs of reducing that from other sources such as nuclear power wastes, since the risks are to future generations in both cases. The cost of reducing public exposure by the use of rare earth screens in U.K. hospitals is calculated to be about Pound1 per man-rad; a total annual genetic collective dose of nearly 300,000 man-rad could be saved. An anomalous situation is presented by the great discrepancies between this cost, and published estimates both of the cost of the detriment associated with the genetic collective dose and of the value incorporated into the design objective for nuclear reactors. (U.K.)

  12. Modeling, Forecasting and Mitigating Extreme Earthquakes

    Science.gov (United States)

    Ismail-Zadeh, A.; Le Mouel, J.; Soloviev, A.

    2012-12-01

    Recent earthquake disasters highlighted the importance of multi- and trans-disciplinary studies of earthquake risk. A major component of earthquake disaster risk analysis is hazards research, which should cover not only a traditional assessment of ground shaking, but also studies of geodetic, paleoseismic, geomagnetic, hydrological, deep drilling and other geophysical and geological observations together with comprehensive modeling of earthquakes and forecasting extreme events. Extreme earthquakes (large magnitude and rare events) are manifestations of complex behavior of the lithosphere structured as a hierarchical system of blocks of different sizes. Understanding of physics and dynamics of the extreme events comes from observations, measurements and modeling. A quantitative approach to simulate earthquakes in models of fault dynamics will be presented. The models reproduce basic features of the observed seismicity (e.g., the frequency-magnitude relationship, clustering of earthquakes, occurrence of extreme seismic events). They provide a link between geodynamic processes and seismicity, allow studying extreme events, influence of fault network properties on seismic patterns and seismic cycles, and assist, in a broader sense, in earthquake forecast modeling. Some aspects of predictability of large earthquakes (how well can large earthquakes be predicted today?) will be also discussed along with possibilities in mitigation of earthquake disasters (e.g., on 'inverse' forensic investigations of earthquake disasters).

  13. Rare Earth Polyoxometalates.

    Science.gov (United States)

    Boskovic, Colette

    2017-09-19

    Longstanding and important applications make use of the chemical and physical properties of both rare earth metals and polyoxometalates of early transition metals. The catalytic, optical, and magnetic features of rare earth metal ions are well-known, as are the reversible multielectron redox and photoredox capabilities of polyoxomolybdates and polyoxotungstates. The combination of rare earth ions and polyoxometalates in discrete molecules and coordination polymers is of interest for the unique combination of chemical and physical properties that can arise. This Account surveys our efforts to synthesize and investigate compounds with rare earth ions and polyoxometalates (RE-POMs), sometimes with carboxylate-based organic coligands. Our general synthetic approach is "bottom-up", which affords well-defined nanoscale molecules, typically in crystalline form and amenable to single-crystal X-ray diffraction for structure determination. Our particular focus is on elucidation of the physical properties conferred by the different structural components with a view to ultimately being able to tune these properties chemically. For this purpose, we employ a variety of spectroscopic, magnetochemical, electrochemical, and scattering techniques in concert with theoretical modeling and computation. Studies of RE-POM single-molecule magnets (SMMs) have utilized magnetic susceptibility, inelastic neutron scattering, and ab initio calculations. These investigations have allowed characterization of the crystal field splitting of the rare earth(III) ions that is responsible for the SMM properties of slow magnetic relaxation and magnetization quantum tunneling. Such SMMs are promising for applications in quantum computing and molecular spintronics. Photophysical measurements of a family of hybrid RE-POMs with organic ligands have afforded insights into sensitization of Tb(III) and Eu(III) emission through both organic and polyoxometalate chromophores in the same molecule. Detailed

  14. The Effect of Recurrent Floods on Genetic Composition of Marble Trout Populations

    Science.gov (United States)

    Pujolar, José Martin; Vincenzi, Simone; Zane, Lorenzo; Jesensek, Dusan; De Leo, Giulio A.; Crivelli, Alain J.

    2011-01-01

    A changing global climate can threaten the diversity of species and ecosystems. We explore the consequences of catastrophic disturbances in determining the evolutionary and demographic histories of secluded marble trout populations in Slovenian streams subjected to weather extremes, in particular recurrent flash floods and debris flows causing massive mortalities. Using microsatellite data, a pattern of extreme genetic differentiation was found among populations (global F ST of 0.716), which exceeds the highest values reported in freshwater fish. All locations showed low levels of genetic diversity as evidenced by low heterozygosities and a mean of only 2 alleles per locus, with few or no rare alleles. Many loci showed a discontinuous allele distribution, with missing alleles across the allele size range, suggestive of a population contraction. Accordingly, bottleneck episodes were inferred for all samples with a reduction in population size of 3–4 orders of magnitude. The reduced level of genetic diversity observed in all populations implies a strong impact of genetic drift, and suggests that along with limited gene flow, genetic differentiation might have been exacerbated by recurrent mortalities likely caused by flash flood and debris flows. Due to its low evolutionary potential the species might fail to cope with an intensification and altered frequency of flash flood events predicted to occur with climate change. PMID:21931617

  15. A Rare Cause of Abdominal Pain in Childhood: Cardiac Angiosarcoma

    Directory of Open Access Journals (Sweden)

    Elvan Caglar Citak

    Full Text Available Abstract Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl.

  16. Diverticulum of the mitral valve, a rare cause of mitral regurgitation.

    LENUS (Irish Health Repository)

    Soo, Alan

    2010-12-01

    Non-infective mitral valve diverticulum is extremely rare. We present a case of intraoperatively diagnosed mitral valve diverticulum of a 69-year-old man presenting with mitral regurgitation who was successfully treated with mitral valve replacement.

  17. A rare case of post-splenectomy gastric volvulus managed by laparoscopic anterior gastropexy

    Directory of Open Access Journals (Sweden)

    Rahul Amreesh Gupta

    2017-01-01

    Full Text Available We report an extremely rare case of recurrent gastric volvulus after open splenectomy for hereditary spherocytosis. The initial episode was managed by endoscopic derotation. Later, for recurrent symptoms, she was successfully managed by laparoscopic anterior gastropexy.

  18. Rare B decays at LEP

    CERN Document Server

    Kluit, P M

    2001-01-01

    The results of the LEP experiments for rare B decays will be reviewed, covering hadronic final states, radiative and other rare decays and results for the inclusive charmless branching ratio. (8 refs).

  19. Extreme Programming: Maestro Style

    Science.gov (United States)

    Norris, Jeffrey; Fox, Jason; Rabe, Kenneth; Shu, I-Hsiang; Powell, Mark

    2009-01-01

    "Extreme Programming: Maestro Style" is the name of a computer programming methodology that has evolved as a custom version of a methodology, called extreme programming that has been practiced in the software industry since the late 1990s. The name of this version reflects its origin in the work of the Maestro team at NASA's Jet Propulsion Laboratory that develops software for Mars exploration missions. Extreme programming is oriented toward agile development of software resting on values of simplicity, communication, testing, and aggressiveness. Extreme programming involves use of methods of rapidly building and disseminating institutional knowledge among members of a computer-programming team to give all the members a shared view that matches the view of the customers for whom the software system is to be developed. Extreme programming includes frequent planning by programmers in collaboration with customers, continually examining and rewriting code in striving for the simplest workable software designs, a system metaphor (basically, an abstraction of the system that provides easy-to-remember software-naming conventions and insight into the architecture of the system), programmers working in pairs, adherence to a set of coding standards, collaboration of customers and programmers, frequent verbal communication, frequent releases of software in small increments of development, repeated testing of the developmental software by both programmers and customers, and continuous interaction between the team and the customers. The environment in which the Maestro team works requires the team to quickly adapt to changing needs of its customers. In addition, the team cannot afford to accept unnecessary development risk. Extreme programming enables the Maestro team to remain agile and provide high-quality software and service to its customers. However, several factors in the Maestro environment have made it necessary to modify some of the conventional extreme

  20. A rare sight

    CERN Multimedia

    Antonella Del Rosso and The LHCb Collaboration

    2012-01-01

    Today, at the Hadron Collider Physics Symposium in Kyoto, the LHCb collaboration has presented the evidence of a very rare B decay, the rarest ever seen. The result further shrinks the region in which scientists can still look for supersymmetry.   The graph showing evidence of the Bs0 → μ+ μ- decay. The result was presented Monday 12 November at the HCP Conference in Kyoto (photo courtesy of the LHCb Collaboration). Particle decays tell us about the inner properties and functioning of Nature’s physics processes. By studying them and their occurrence, physicists infer the rules that control them. Often, it turns out that some rare decays, which are very difficult to observe, are those in which Nature could reveal the presence of new physics. This is the case of some decays of the Bs0 particle (a particle made of a bottom anti-quark bound to a strange quark), and in particular Bs0 → μ+ μ- whose...

  1. A geometric framework for evaluating rare variant tests of association.

    Science.gov (United States)

    Liu, Keli; Fast, Shannon; Zawistowski, Matthew; Tintle, Nathan L

    2013-05-01

    The wave of next-generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous statistical methods have been proposed to aggregate association signals across multiple rare variant sites in an effort to increase statistical power; however, the precise relation between the tests is often not well understood. We present a geometric representation for rare variant data in which rare allele counts in case and control samples are treated as vectors in Euclidean space. The geometric framework facilitates a rigorous classification of existing rare variant tests into two broad categories: tests for a difference in the lengths of the case and control vectors, and joint tests for a difference in either the lengths or angles of the two vectors. We demonstrate that genetic architecture of a trait, including the number and frequency of risk alleles, directly relates to the behavior of the length and joint tests. Hence, the geometric framework allows prediction of which tests will perform best under different disease models. Furthermore, the structure of the geometric framework immediately suggests additional classes and types of rare variant tests. We consider two general classes of tests which show robustness to noncausal and protective variants. The geometric framework introduces a novel and unique method to assess current rare variant methodology and provides guidelines for both applied and theoretical researchers. © 2013 Wiley Periodicals, Inc.

  2. Extreme meteorological conditions

    International Nuclear Information System (INIS)

    Altinger de Schwarzkopf, M.L.

    1983-01-01

    Different meteorological variables which may reach significant extreme values, such as the windspeed and, in particular, its occurrence through tornadoes and hurricanes that necesarily incide and wich must be taken into account at the time of nuclear power plants' installation, are analyzed. For this kind of study, it is necessary to determine the basic phenomenum of design. Two criteria are applied to define the basic values of design for extreme meteorological variables. The first one determines the expected extreme value: it is obtained from analyzing the recurence of the phenomenum in a convened period of time, wich may be generally of 50 years. The second one determines the extreme value of low probability, taking into account the nuclear power plant's operating life -f.ex. 25 years- and considering, during said lapse, the occurrence probabilities of extreme meteorological phenomena. The values may be determined either by the deterministic method, which is based on the acknowledgement of the fundamental physical characteristics of the phenomena or by the probabilistic method, that aims to the analysis of historical statistical data. Brief comments are made on the subject in relation to the Argentine Republic area. (R.J.S.) [es

  3. GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.

    Science.gov (United States)

    Gottlieb, Michael M; Arenillas, David J; Maithripala, Savanie; Maurer, Zachary D; Tarailo Graovac, Maja; Armstrong, Linlea; Patel, Millan; van Karnebeek, Clara; Wasserman, Wyeth W

    2015-04-01

    Advances in next-generation sequencing (NGS) technologies have helped reveal causal variants for genetic diseases. In order to establish causality, it is often necessary to compare genomes of unrelated individuals with similar disease phenotypes to identify common disrupted genes. When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. We introduce a web tool, GeneYenta, which facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. Importantly, the system is focused on phenotype annotation, with explicit limitations on highly confidential data that create barriers to participation. The procedure for matching of patient phenotypes, inspired by online dating services, uses an ontology-based semantic case matching algorithm with attribute weighting. We evaluate the capacity of the system using a curated reference data set and 19 clinician entered cases comparing four matching algorithms. We find that the inclusion of clinician weights can augment phenotype matching. © 2015 WILEY PERIODICALS, INC.

  4. Acclimatization to extreme heat

    Science.gov (United States)

    Warner, M. E.; Ganguly, A. R.; Bhatia, U.

    2017-12-01

    Heat extremes throughout the globe, as well as in the United States, are expected to increase. These heat extremes have been shown to impact human health, resulting in some of the highest levels of lives lost as compared with similar natural disasters. But in order to inform decision makers and best understand future mortality and morbidity, adaptation and mitigation must be considered. Defined as the ability for individuals or society to change behavior and/or adapt physiologically, acclimatization encompasses the gradual adaptation that occurs over time. Therefore, this research aims to account for acclimatization to extreme heat by using a hybrid methodology that incorporates future air conditioning use and installation patterns with future temperature-related time series data. While previous studies have not accounted for energy usage patterns and market saturation scenarios, we integrate such factors to compare the impact of air conditioning as a tool for acclimatization, with a particular emphasis on mortality within vulnerable communities.

  5. Extremely deformable structures

    CERN Document Server

    2015-01-01

    Recently, a new research stimulus has derived from the observation that soft structures, such as biological systems, but also rubber and gel, may work in a post critical regime, where elastic elements are subject to extreme deformations, though still exhibiting excellent mechanical performances. This is the realm of ‘extreme mechanics’, to which this book is addressed. The possibility of exploiting highly deformable structures opens new and unexpected technological possibilities. In particular, the challenge is the design of deformable and bi-stable mechanisms which can reach superior mechanical performances and can have a strong impact on several high-tech applications, including stretchable electronics, nanotube serpentines, deployable structures for aerospace engineering, cable deployment in the ocean, but also sensors and flexible actuators and vibration absorbers. Readers are introduced to a variety of interrelated topics involving the mechanics of extremely deformable structures, with emphasis on ...

  6. Could Buerger's disease cause nonarteritic anterior ischemic optic neuropathy?: a rare case report.

    Science.gov (United States)

    Korkmaz, Anil; Karti, Omer; Top Karti, Dilek; Yüksel, Bora; Zengin, Mehmet Ozgur; Kusbeci, Tuncay

    2018-04-05

    We present an interesting case with nonarteritic anterior ischemic optic neuropathy (NAION) accompanied by Buerger's disease. A 43-year-old man was referred to our neuro-ophthalmology clinic with a complaint of visual deterioration in the left eye that started 5 days ago. He suffered from Buerger's disease, and he had acute pain in the right lower limb below the knee. His best corrected visual acuity was 10/10 in the right eye and 2/10 in the left eye by Snellen chart. There was a relative afferent pupil defect in the left eye. The right optic disc was normal on fundus examination, and blurring, hemorrhagic swelling was found at the left optic disc. Inferior altitudinal visual field defect was observed in the left eye. Neurological examination was normal. Computed tomography angiography scan revealed occlusion in the right posterior tibial artery. Brain imaging and laboratory tests such as blood analyses, genetic screening, coagulation, and lipid panels were unremarkable. NAION may occur in patients with Buerger's disease, but it is extremely rare. Therefore, clinicians should be aware of this rare association.

  7. Extreme Scale Computing Studies

    Science.gov (United States)

    2010-12-01

    systems that would fall under the Exascale rubric . In this chapter, we first discuss the attributes by which achievement of the label “Exascale” may be...Carrington, and E. Strohmaier. A Genetic Algorithms Approach to Modeling the Performance of Memory-bound Computations. Reno, NV, November 2007. ACM/IEEE... genetic stochasticity (random mating, mutation, etc). Outcomes are thus stochastic as well, and ecologists wish to ask questions like, “What is the

  8. Adventure and Extreme Sports.

    Science.gov (United States)

    Gomez, Andrew Thomas; Rao, Ashwin

    2016-03-01

    Adventure and extreme sports often involve unpredictable and inhospitable environments, high velocities, and stunts. These activities vary widely and include sports like BASE jumping, snowboarding, kayaking, and surfing. Increasing interest and participation in adventure and extreme sports warrants understanding by clinicians to facilitate prevention, identification, and treatment of injuries unique to each sport. This article covers alpine skiing and snowboarding, skateboarding, surfing, bungee jumping, BASE jumping, and whitewater sports with emphasis on epidemiology, demographics, general injury mechanisms, specific injuries, chronic injuries, fatality data, and prevention. Overall, most injuries are related to overuse, trauma, and environmental or microbial exposure. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Extremal graph theory

    CERN Document Server

    Bollobas, Bela

    2004-01-01

    The ever-expanding field of extremal graph theory encompasses a diverse array of problem-solving methods, including applications to economics, computer science, and optimization theory. This volume, based on a series of lectures delivered to graduate students at the University of Cambridge, presents a concise yet comprehensive treatment of extremal graph theory.Unlike most graph theory treatises, this text features complete proofs for almost all of its results. Further insights into theory are provided by the numerous exercises of varying degrees of difficulty that accompany each chapter. A

  10. Rare earth superlattices

    International Nuclear Information System (INIS)

    McMorrow, D.F.

    1997-01-01

    A review is given of recent experiments on the magnetism of rare earth superlattices. Early experiments in this field were concerned mainly with systems formed by combining a magnetic and a non-magnetic element in a superlattice structure. From results gathered on a variety of systems it has been established that the propagation of magnetic order through the non-magnetic spacer can be understood mostly on the basis of an RKKY-like model, where the strength and range of the coupling depends on the details of the conduction electron susceptibility of the spacer. Recent experiments on more complex systems indicate that this model does not provide a complete description. Examples include superlattices where the constituents can either be both magnetic, adopt different crystal structures (Fermi surfaces), or where one of the constituents has a non-magnetic singlet ground state. The results from such systems are presented and discussed in the context of the currently accepted model. (au)

  11. Rare nocturnal headaches.

    Science.gov (United States)

    Cohen, Anna S; Kaube, Holger

    2004-06-01

    This review describes rare headaches that can occur at night or during sleep, with a focus on cluster headaches, paroxysmal hemicrania, short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing, hypnic headache and exploding head syndrome. It is known that cluster headaches and hypnic headache are associated with rapid eye movement sleep, as illustrated by recent polysomnographic studies. Functional imaging studies have documented hypothalamic activation that is likely to be of relevance to circadian rhythms. These headache syndromes have been shown to respond to melatonin and lithium therapy, both of which have an indirect impact on the sleep-wake cycle. There is growing evidence that cluster headache and hypnic headache are chronobiological disorders.

  12. Rare earth (3) pivalates

    International Nuclear Information System (INIS)

    Kuz'mina, N.P.; Martynenko, L.I.; Zoan An' Tu; Ch'eu Tkhi Nguet; Troyanov, S.I.; Rykov, A.N.; Korenev, Yu.M.

    1994-01-01

    Depending on synthesis conditions rare earth pivalates can be obtained in the form of either adducts NPiv·HPiv or hydrates MPiv 3 ·mH 2 O. Adducts are the most stable form of pivalates. Heating of adducts result in formation of corresponding MPiv 3 . MPiv 3 ·nHPiv compounds are characterized by IR-spectroscopy and thermal analysis data. Behaviour of MPiv 3 was studied in the regime of vacuum sublemation. Using mass spectroscopy of NdPiv 3 it was shown that gaseous phase above MPiv 3 had complex composition and contained ligomer fragments. X-ray structure analysis of [NdPiv 3 ·3HPiv] was conducted

  13. A Rare Stapes Abnormality

    Directory of Open Access Journals (Sweden)

    Hala Kanona

    2015-01-01

    Full Text Available The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively.

  14. Rare Decays at LHCb

    CERN Document Server

    Belyaev, Ivan

    2006-01-01

    Rare loop-induced decays are sensitive to New Physics in many Standard Model extensions. In this paper we discuss the reconstruction of the radiative penguin decays $B^0_d \\to K^{*0} \\gamma, B^0_s \\to \\phi \\gamma , B^0_d \\to \\omega \\gamma, \\Lambda_b \\to \\Lambda \\gamma$, the electroweak penguin decays $B^0_d \\to K^{*0} \\mu^+ \\mu^-, B^+_u \\to K^+ \\mu^+ \\mu^-$, the gluonic penguin decays $B^0_d \\to \\phi K^0_S, B^0_s \\to \\phi \\phi$, and the decay $B^0_s \\to \\mu^+\\mu^-$ at LHCb. The selection criteria, evaluated efficiencies, expected annual yields and $B/S$ estimates are presented.

  15. Rare cancers are not so rare: The rare cancer burden in Europe

    NARCIS (Netherlands)

    Gatta, Gemma; van der Zwan, Jan Maarten; Casali, Paolo G.; Siesling, Sabine; Dei Tos, Angelo Paolo; Kunkler, Ian; Otter, Renee; Licitra, Lisa

    2011-01-01

    Purpose: Epidemiologic information on rare cancers is scarce. The project Surveillance of Rare Cancers in Europe (RARECARE) provides estimates of the incidence, prevalence and survival of rare cancers in Europe based on a new and comprehensive list of these diseases. Materials and methods: RARECARE

  16. Sirenomelia: A Rare Presentation

    Science.gov (United States)

    Srinivas, S; Kumar, Shiva; Reddy, Surweshwar; Prasad, Hari; Irfan, G M

    2012-01-01

    We are presenting two cases of Sirenomelia (Mermaid Syndrome), which is an extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, imperforate anus, and renal agenesis or dysgenesis. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. One of our cases survived for 12 days after birth. This new born had an unusually high anorectal anomaly in which the colon was ending at the level of mid transverse colon, fused lower limbs and genital anomalies. Ultrasound of the abdomen revealed horseshoe kidney. Colostomy was performed on day 2 of life. The second case encountered was a stillborn baby on whom an autopsy was performed. PMID:26023366

  17. Sirenomelia: a rare presentation.

    Science.gov (United States)

    Reddy, K Ramesh; Srinivas, S; Kumar, Shiva; Reddy, Surweshwar; Prasad, Hari; Irfan, G M

    2012-01-01

    We are presenting two cases of Sirenomelia (Mermaid Syndrome), which is an extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, imperforate anus, and renal agenesis or dysgenesis. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. One of our cases survived for 12 days after birth. This new born had an unusually high anorectal anomaly in which the colon was ending at the level of mid transverse colon, fused lower limbs and genital anomalies. Ultrasound of the abdomen revealed horseshoe kidney. Colostomy was performed on day 2 of life. The second case encountered was a stillborn baby on whom an autopsy was performed.

  18. ‘Smoke in the air’: a rare cerebrovascular cause of neurological signs and symptoms in a young adult

    Directory of Open Access Journals (Sweden)

    Imtiaz Ismail

    2015-06-01

    Full Text Available Moyamoya disease is a rare neurological condition that affects children and adults of all ages. It is characterized by chronic, progressive stenosis of the circle of Willis that ultimately leads to the development of extensive collateral vessels. Presenting symptoms are usually due to cerebral ischemia or hemorrhage. The Japanese term moyamoya (meaning puffy or obscure was coined to describe the characteristic ‘smoke in the air’ appearance of these vessels on cerebral angiography. Moyamoya has the highest recorded incidence in Japan (0.28 per 100,000. In the west it is an extremely rare condition with an overall incidence of (0.086 per 100,000 in the Western United States. Etiology for the most part is unknown; however, genetic susceptibility related to RNF213 gene on chromosome 17q25.3 has been suggested. Moyamoya is being diagnosed more frequently in all races with varying clinical manifestations. Moyamoya disease is a rare progressive neurologic condition characterized by occlusion of the cerebral circulation with extensive collaterals recruitment in children and adults. Distinguished radiological findings confirm the diagnosis. Early recognition and swift institution of therapy is vital in order to minimize neurological deficits. We present the case of a 19-year-old African American female who presented with left-sided parastheia, weakness, and headache for 2 days duration.

  19. Leiomyoma of Testis –Rare Benign Mimicker of Testicular Malignancy

    Directory of Open Access Journals (Sweden)

    Asif Baliyan

    2017-10-01

    Full Text Available Leiomyomas are benign tumours that originate from any organ containing smooth muscles. The testis is an extremely rare site. We report a case of testicular leiomyoma in a 50-year-old. Testis-associated leiomyomas are a benign and rare disease presenting as a painless, slowly-growing mass. Only histological examination with immunohistochemistry can validate the diagnosis.

  20. A rare case of complete second arch branchial fistula in a 7-year-old child

    OpenAIRE

    Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

    2012-01-01

    Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated.

  1. A rare case of complete second arch branchial fistula in a 7-year-old child.

    Science.gov (United States)

    Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

    2012-07-01

    Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated.

  2. Intussusception due to a cecal duplication cyst: a rare cause of acute abdomen. Case report.

    Science.gov (United States)

    Corroppolo, M; Zampieri, N; Erculiani, E; Cecchetto, M; Camoglio, F S

    2007-01-01

    Duplications of the alimentary tract are rare congenital anomalies. The ileum is the most common site, whereas rectal, duodenal, gastric and cecal duplications are extremely rare. Duplication cysts of the cecum, in a neonate, are even rarer, with only 19 cases reported in medical literature to date. We report a case of intestinal intussusception due to a cecal duplication cyst.

  3. Double Trouble: A Rare Case of Bilateral Upper Pole Ureteropelvic Junction Obstruction

    Directory of Open Access Journals (Sweden)

    Craig A. Peters

    2014-09-01

    Full Text Available A 16-year-old girl presented with bilateral back pain caused by bilateral upper pole ureteropelvic junction obstructions; an extremely rare phenomenon. Bilateral robotically assisted upper pole pyeloplasties were preformed at the same setting with an excellent clinical response. Although rare, upper pole ureteropelvic junction obstruction is a defined entity that urologists should be aware of.

  4. Synovial Sarcoma of the Buccal Mucosa: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Kumar T. S. Mahesh

    2013-01-01

    Full Text Available Synovial sarcoma (SS is a rare malignant neoplasm that arises most commonly in joint capsules and articular tendons, but its relationship to the synovium is not always obvious. Synovial sarcoma is a malignant soft tissue tumor representing 5.6% to 10% of all soft tissue sarcomas. They are termed SS because of their histologic resemblance to the synovium, but they rarely involve a synovial structure and are thought to arise from pluripotential mesenchymal cells. The tumor usually occurs in close association with tendon sheaths, bursae, and joint capsules, primarily in the para-articular regions of the extremities, with approximately 9% occurring in the head and neck region. Synovial sarcoma has been reported rarely in the oral cavity. We report a very rare case of Synovial sarcoma of the buccal mucosa in a 24-year-old male patient.

  5. Facial nerve hemangioma: a rare case involving the vertical segment.

    Science.gov (United States)

    Ahmadi, Neda; Newkirk, Kenneth; Kim, H Jeffrey

    2013-02-01

    This case report and literature review reports on a rare case of facial nerve hemangioma (FNH) involving the vertical facial nerve (FN) segment, and discusses the clinical presentation, imaging, pathogenesis, and management of these rare lesions. A 53-year-old male presented with a 10-year history of right hemifacial twitching and progressive facial paresis (House-Brackmann grading score V/VI). The computed tomography and magnetic resonance imaging studies confirmed an expansile lesion along the vertical FN segment. Excision and histopathologic examination demonstrated FNH. FNHs involving the vertical FN segment are extremely rare. Despite being rare lesions, we believe that familiarity with the presentation and management of FNHs are imperative. Laryngoscope, 2012. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

  6. Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes.

    Science.gov (United States)

    Spinella, Jean-François; Healy, Jasmine; Saillour, Virginie; Richer, Chantal; Cassart, Pauline; Ouimet, Manon; Sinnett, Daniel

    2015-07-23

    Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. While the multi-step model of pediatric leukemogenesis suggests interplay between constitutional and somatic genomes, the role of inherited genetic variability remains largely undescribed. Nonsyndromic familial ALL, although extremely rare, provides the ideal setting to study inherited contributions to ALL. Toward this goal, we sequenced the exomes of a childhood ALL family consisting of mother, father and two non-twinned siblings diagnosed with concordant pre-B hyperdiploid ALL and previously shown to have inherited a rare form of PRDM9, a histone H3 methyltransferase involved in crossing-over at recombination hotspots and Holliday junctions. We postulated that inheritance of additional rare disadvantaging variants in predisposing cancer genes could affect genomic stability and lead to increased risk of hyperdiploid ALL within this family. Whole exomes were captured using Agilent's SureSelect kit and sequenced on the Life Technologies SOLiD System. We applied a data reduction strategy to identify candidate variants shared by both affected siblings. Under a recessive disease model, we focused on rare non-synonymous or frame-shift variants in leukemia predisposing pathways. Though the family was nonsyndromic, we identified a combination of rare variants in Fanconi anemia (FA) genes FANCP/SLX4 (compound heterozygote - rs137976282/rs79842542) and FANCA (rs61753269) and a rare homozygous variant in the Holliday junction resolvase GEN1 (rs16981869). These variants, predicted to affect protein function, were previously identified in familial breast cancer cases. Based on our in-house database of 369 childhood ALL exomes, the sibs were the only patients to carry this particularly rare combination and only a single hyperdiploid patient was heterozygote at both FANCP/SLX4 positions, while no FANCA variant allele carriers were identified. FANCA is the most commonly mutated gene in FA and is essential for

  7. Stellar extreme ultraviolet astronomy

    International Nuclear Information System (INIS)

    Cash, W.C. Jr.

    1978-01-01

    The design, calibration, and launch of a rocket-borne imaging telescope for extreme ultraviolet astronomy are described. The telescope, which employed diamond-turned grazing incidence optics and a ranicon detector, was launched November 19, 1976, from the White Sands Missile Range. The telescope performed well and returned data on several potential stellar sources of extreme ultraviolet radiation. Upper limits ten to twenty times more sensitive than previously available were obtained for the extreme ultraviolet flux from the white dwarf Sirius B. These limits fall a factor of seven below the flux predicted for the star and demonstrate that the temperature of Sirius B is not 32,000 K as previously measured, but is below 30,000 K. The new upper limits also rule out the photosphere of the white dwarf as the source of the recently reported soft x-rays from Sirius. Two other white dwarf stars, Feige 24 and G191-B2B, were observed. Upper limits on the flux at 300 A were interpreted as lower limits on the interstellar hydrogen column densities to these stars. The lower limits indicate interstellar hydrogen densitites of greater than .02 cm -3 . Four nearby stars (Sirius, Procyon, Capella, and Mirzam) were observed in a search for intense low temperature coronae or extended chromospheres. No extreme ultraviolet radiation from these stars was detected, and upper limits to their coronal emisson measures are derived

  8. Extremity x-ray

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/003461.htm Extremity x-ray To use the sharing features on this page, ... in the body Risks There is low-level radiation exposure. X-rays are monitored and regulated to provide the ...

  9. Extremity perfusion for sarcoma

    NARCIS (Netherlands)

    Hoekstra, Harald Joan

    2008-01-01

    For more than 50 years, the technique of extremity perfusion has been explored in the limb salvage treatment of local, recurrent, and multifocal sarcomas. The "discovery" of tumor necrosis factor-or. in combination with melphalan was a real breakthrough in the treatment of primarily irresectable

  10. Statistics of Local Extremes

    DEFF Research Database (Denmark)

    Larsen, Gunner Chr.; Bierbooms, W.; Hansen, Kurt Schaldemose

    2003-01-01

    . A theoretical expression for the probability density function associated with local extremes of a stochasticprocess is presented. The expression is basically based on the lower four statistical moments and a bandwidth parameter. The theoretical expression is subsequently verified by comparison with simulated...

  11. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  12. Extremity Soft Tissue Sarcoma: A Review of 19 Cases. | Eyesan ...

    African Journals Online (AJOL)

    Background: Although soft tissue sarcoma is a rare tumour, it accounts for a significant proportion of malignancies seen in many orthopaedic practices. The objectives of this study are to evaluate the pattern of presentation of extremity soft tissue sarcoma and the treatment outcome in our patients. Method: This is a 3 year ...

  13. Kallmann syndrome and paranoid schizophrenia: A rare combination

    NARCIS (Netherlands)

    W.M.A. Verhoeven (Wim); J.I.M. Egger (Jos); J.E.J.M. Hovens (Hans); E.H. Hoefsloot (Lies)

    2013-01-01

    textabstractKallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been

  14. Kindler′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Neelam Suman

    2014-01-01

    Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

  15. Replacing critical rare earth materials in high energy density magnets

    Science.gov (United States)

    McCallum, R. William

    2012-02-01

    High energy density permanent magnets are crucial to the design of internal permanent magnet motors (IPM) for hybride and electric vehicles and direct drive wind generators. Current motor designs use rare earth permanent magnets which easily meet the performance goals, however, the rising concerns over cost and foreign control of the current supply of rare earth resources has motivated a search for non-rare earth based permanent magnets alloys with performance metrics which allow the design of permanent magnet motors and generators without rare earth magnets. This talk will discuss the state of non-rare-earth permanent magnets and efforts to both improve the current materials and find new materials. These efforts combine first principles calculations and meso-scale magnetic modeling with advance characterization and synthesis techniques in order to advance the state of the art in non rare earth permanent magnets. The use of genetic algorithms in first principle structural calculations, combinatorial synthesis in the experimental search for materials, atom probe microscopy to characterize grain boundaries on the atomic level, and other state of the art techniques will be discussed. In addition the possibility of replacing critical rare earth elements with the most abundant rare earth Ce will be discussed.

  16. Neurodevelopmental problems and extremes in BMI

    Directory of Open Access Journals (Sweden)

    Nóra Kerekes

    2015-07-01

    Full Text Available Background. Over the last few decades, an increasing number of studies have suggested a connection between neurodevelopmental problems (NDPs and body mass index (BMI. Attention deficit/hyperactivity disorder (ADHD and autism spectrum disorders (ASD both seem to carry an increased risk for developing extreme BMI. However, the results are inconsistent, and there have been only a few studies of the general population of children.Aims. We had three aims with the present study: (1 to define the prevalence of extreme (low or high BMI in the group of children with ADHD and/or ASDs compared to the group of children without these NDPs; (2 to analyze whether extreme BMI is associated with the subdomains within the diagnostic categories of ADHD or ASD; and (3 to investigate the contribution of genetic and environmental factors to BMI in boys and girls at ages 9 and 12.Method. Parents of 9- or 12-year-old twins (n = 12,496 were interviewed using the Autism—Tics, ADHD and other Comorbidities (A-TAC inventory as part of the Child and Adolescent Twin Study in Sweden (CATSS. Univariate and multivariate generalized estimated equation models were used to analyze associations between extremes in BMI and NDPs.Results. ADHD screen-positive cases followed BMI distributions similar to those of children without ADHD or ASD. Significant association was found between ADHD and BMI only among 12-year-old girls, where the inattention subdomain of ADHD was significantly associated with the high extreme BMI. ASD scores were associated with both the low and the high extremes of BMI. Compared to children without ADHD or ASD, the prevalence of ASD screen-positive cases was three times greater in the high extreme BMI group and double as much in the low extreme BMI group. Stereotyped and repetitive behaviors were significantly associated with high extreme BMIs.Conclusion. Children with ASD, with or without coexisting ADHD, are more prone to have low or high extreme BMIs than

  17. Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

    Directory of Open Access Journals (Sweden)

    Neha Agarwal

    2017-01-01

    Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

  18. Distribution, genetic structure, and conservation status of the rare microendemic species, Guaiacum unijugum (Zygophyllaceae in the Cape Region of Baja California, Mexico Distribución, estructura genética y conservación de la especie microendémica Guaiacum unijugum (Zygophyllaceae en la región de los Cabos de Baja California, México

    Directory of Open Access Journals (Sweden)

    Ross A. McCauley

    2010-12-01

    Full Text Available Guaiacum unijugum is a rare shrub endemic to a 70 km stretch of coastline extending east from San José del Cabo in Baja California and is the least well-known of the 4 species of Guaiacum in Mexico. To increase our knowledge of this species and assess its conservation status we surveyed the extent of occurrence using both herbarium material and field work, assessed levels of genetic diversity, determined its phylogenetic relationships, and completed an evaluation of risk of extinction (MER. Herbarium material identified 5 known localities of occurrence with field work verifying the continued persistence of 4 of these with an additional site discovered. Genetic analysis across the small range using 17 microsatellite loci showed very low levels of genetic diversity with a mean expected heterozygosity (H E of 0.162 over all polymorphic loci. Most loci were found to be monomorphic and genetic divergence was small, maintained by the presence of rare private alleles in widely-separated populations. Phylogenetic analysis indicated a sister group relationship to G. coulteri along the Pacific coast suggesting vicariance for the origin and occurrence of G. unijugum. The unique evolutionary history coupled with current small population sizes warrants increased conservation via listing as a critically endangered species.Guaiacum unijugum es un arbusto endémico en un área de aproximadamente 70 km en la región de Los Cabos, Baja California Sur, siendo la menos estudiada de las 4 especies de Guaiacum en México. Para incrementar nuestro conocimiento sobre esta especie y determinar su estatus de conservación se realizó un censo de sus poblaciones determinándose su estructura genética, su relación filogenética con otros miembros del género y se calculó su riesgo de extinción (MER. La revisión de material de herbario, confirmó la presencia de 4 poblaciones a las que se sumó el hallazgo de 1 más. Mediante el uso de 17 loci de microsatélites se

  19. Family studies to find rare high risk variants in migraine.

    Science.gov (United States)

    Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

    2017-12-01

    Migraine has long been known as a common complex disease caused by genetic and environmental factors. The pathophysiology and the specific genetic susceptibility are poorly understood. Common variants only explain a small part of the heritability of migraine. It is thought that rare genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families. A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising application of a family approach to migraine. PubMed was searched to find studies that looked for rare genetic variants in common complex diseases through a family-based design using NGS, excluding studies looking for de-novo mutations, or using a candidate-gene approach and studies on cancer. All issues from Nature Genetics and PLOS genetics 2014, 2015 and 2016 (UTAI June) were screened for relevant papers. Reference lists from included and other relevant papers were also searched. For the description of the family-based study design using NGS an in-house protocol was used. Thirty-two successful studies, which covered 16 different common complex diseases, were included in this paper. We also found a single migraine study. Twenty-three studies found one or a few family specific

  20. Rare psi decays

    International Nuclear Information System (INIS)

    Partridge, R.

    1986-01-01

    Slightly more than ten years have passed since the psi was discovered, yet the study of psi decays continues to be an active and fruitful area of research. One reason for such longevity is that each successive experiment has increased their sensitivity over previous experiments either by improving detection efficiency or by increasing statistics. This has allowed the observation and, in some cases, detailed studies of rare psi decays. Branching ratios of ≅10-/sup 4/ are now routinely studied, while certain decay channels are beginning to show interesting effects at the 10-/sup 5/ level. Future experiments at the Beijing Electron Positron Collider (BEPC) have the potential for increasing sensitivities by one or two orders of magnitude, thus enabling many interesting studies impossible with current data samples. The author first examines the extent to which psi decays can be used to study electroweak phenomena. The remainder of this work is devoted to the more traditional task of using the psi to study quarks, gluons, and the properties of the strong interaction. Of particular interest is the study of radioactive psi decays, where a number of new particles have been discovered. Recent results regarding two of these particles, the θ(1700) and iota(1450), are discussed, as well as a study of the quark content of the eta and eta' using decays of the psi to vector-pseudoscalar final states

  1. Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal Principle of protection and treatment of rare genetic diseases in Brazil: the case of lysosomal storage disorders

    Directory of Open Access Journals (Sweden)

    Raquel Boy

    2009-06-01

    Full Text Available Este trabalho tem como objetivo discutir a moralidade do financiamento público das drogas órfãs, de altíssimo custo, para o tratamento de doenças genéticas raras, utilizando as ferramentas da Bioética, em especial o princípio da proteção, aplicável a indivíduos e populações vulneradas. Com base neste princípio, e considerando o contexto normativo constituído pelo Sistema Único de Saúde (SUS, argumenta-se sobre a obrigação moral do Estado de prover políticas públicas que assistam ao indivíduo portador de uma doença genética - como a de depósito lisossômico - e que pode, portanto, ser considerado, "vulnerado", bem como são sugeridas medidas que possam implementar e dar sustentabilidade a tais políticas com ênfase em questões de alocação de recursos, focalização e equanimidade.This study aimed to discuss the morality of public funding for highly expensive orphan drugs for treatment of rare genetic diseases, using tools from bioethics, especially the principle of protection, applicable to vulnerable individuals and populations. Based on this principle, and considering the provisions of the Unified National Health System (SUS, the article argues for the state's moral obligation to provide public policies to ensure care for individuals with genetic diseases like lysosomal storage disorders, who can thus be viewed as "injured", besides suggesting measures to implement and ensure the sustainability of policies with an emphasis on resource allocation, targeting, and equity.

  2. Rare B decays at LHCb

    CERN Document Server

    Puig Navarro, Albert

    2017-01-01

    Rare decays are flavour changing neutral current processes that allow sensitive searches for phenomena beyond the Standard Model (SM). In the SM, rare decays are loop-suppressed and new particles in SM extensions can give significant contributions. The very rare decay $B^0_s\\to\\mu^+\\mu^-$ in addition helicity suppressed and constitutes a powerful probe for new (pseudo) scalar particles. Of particular interest are furthermore tests of lepton universality in rare $b\\to s\\ell^+\\ell^-$ decays. The LHCb experiment is designed for the study of b-hadron decays and ideally suited for the analysis of rare decays due to its high trigger efficiency, as well as excellent tracking and particle identification performance. Recent results from the LHCb experiment in the area of rare decays are presented, including tests of lepton universality and searches for lepton flavour violation.

  3. Computing return times or return periods with rare event algorithms

    Science.gov (United States)

    Lestang, Thibault; Ragone, Francesco; Bréhier, Charles-Edouard; Herbert, Corentin; Bouchet, Freddy

    2018-04-01

    The average time between two occurrences of the same event, referred to as its return time (or return period), is a useful statistical concept for practical applications. For instance insurances or public agencies may be interested by the return time of a 10 m flood of the Seine river in Paris. However, due to their scarcity, reliably estimating return times for rare events is very difficult using either observational data or direct numerical simulations. For rare events, an estimator for return times can be built from the extrema of the observable on trajectory blocks. Here, we show that this estimator can be improved to remain accurate for return times of the order of the block size. More importantly, we show that this approach can be generalised to estimate return times from numerical algorithms specifically designed to sample rare events. So far those algorithms often compute probabilities, rather than return times. The approach we propose provides a computationally extremely efficient way to estimate numerically the return times of rare events for a dynamical system, gaining several orders of magnitude of computational costs. We illustrate the method on two kinds of observables, instantaneous and time-averaged, using two different rare event algorithms, for a simple stochastic process, the Ornstein–Uhlenbeck process. As an example of realistic applications to complex systems, we finally discuss extreme values of the drag on an object in a turbulent flow.

  4. Extremes in nature

    CERN Document Server

    Salvadori, Gianfausto; Kottegoda, Nathabandu T

    2007-01-01

    This book is about the theoretical and practical aspects of the statistics of Extreme Events in Nature. Most importantly, this is the first text in which Copulas are introduced and used in Geophysics. Several topics are fully original, and show how standard models and calculations can be improved by exploiting the opportunities offered by Copulas. In addition, new quantities useful for design and risk assessment are introduced.

  5. Rhabdomyosarcoma of the extremity

    International Nuclear Information System (INIS)

    Rao, Bhaskar N

    1997-01-01

    Rhabdomyosarcoma is the most common soft tissue sarcoma accounting for almost 55%. These tumors arise from unsegmented mesoderm or primitive mesenchyma, which have the capacity to differentiate into muscle. Less than 5% occur in the first year of life. Extremity rhabdomyosarcoma are mainly seen in the adolescent years. The most common histologic subtype is the alveolar variant. Other characteristics of extremity rhabdomyosarcoma include a predilection for lymph node metastasis, a high local failure, and a relatively low survival rate. They often present as slow painless masses; however, lesions in the hand and foot often present as painful masses and imaging studies may show invasion of the bone. Initial diagnostic approaches include needle biopsy or incisional biopsy for larger lesions. Excisional biopsy is indicated preferably for lesions less than 2.5 cm. following this in most instances therapy is initiated with multi agent chemotherapy depending upon response, the next modality may be either surgery with intent to cure or radiation therapy. Amputation of an extremity for local control is not considered in most instances. Prognostic factors that have been determined over the years to be of significance by multi variant analysis have included age, tumor size, invasiveness, presence of either nodal or distant metastasis, and complete excision whenever feasible, with supplemental radiation therapy for local control

  6. An abundance of rare functional variants in 202 drug target genes sequenced in 14.002 people

    DEFF Research Database (Denmark)

    Nelson, Matthew R.; Wegmann, Daniel; Ehm, Margaret G.

    2012-01-01

    Rare genetic variants contribute to complex disease risk; however, the abundance of rare variants in human populations remains unknown. We explored this spectrum of variation by sequencing 202 genes encoding drug targets in 14,002 individuals. We find rare variants are abundant (1 every 17 bases)...

  7. Uptake of rare earth elements by dryopteris erythrosora (autumn fern)

    International Nuclear Information System (INIS)

    Ozaki, Takuo; Enomoto, Shuichi

    2001-01-01

    Mechanisms of uptake of rare earth elements (REEs) were investigated, particularly those by REE accumulator species (autumn fern). Rare earth elements are practically insoluble under natural conditions, suggesting some unknown mechanisms in REE accumulator species. In the present investigation, two notable phenomena were observed. (1) Concerning the ionic-radius dependence of REE uptake by leaves, nonaccumulator species showed an extremely high uptake for Y compared with the adjacent-ionic-radius REEs in the multitracer, while accumulator species showed no anomaly. (2) REE uptake by autumn fern was influenced by the addition of chelating chemical reagents in the uptake solution, while no effect was observed for nonaccumulator species. (author)

  8. Lymphangioma causing duodenal obstruction in adult, rare presentation

    Directory of Open Access Journals (Sweden)

    Prashant W Khade

    2016-01-01

    Full Text Available A submucosal lymphangioma is a rare pathology in the alimentary tract. It is a benign entity of the lymphatic system. A duodenal lymphangioma is extremely rare and has an unknown etiology. Clinical and laboratory findings are nonspecific, and they are incidentally found by endoscopy and their treatment is surgical excision. Small lesions are often asymptomatic. Recently, the authors experienced a 62-year-old man, who had a duodenal lymphangioma, showing gastric outlet obstruction symptoms. A multidetector computed tomography abdomen study revealed a single submucosal cystic lesion in second part of duodenum. The lesion was successfully excised after Whipple′s procedure. Histopathology confirmed the diagnosis of lymphangioma.

  9. Chondroma of Falx: Case Report of a Rare Condition

    Directory of Open Access Journals (Sweden)

    Shahryar Shahriarian

    2012-03-01

    Full Text Available Chondroma is a benign tumor which mostly occurs in extremities but also sometimes in brain. Most intracranial chondromas arise from skull base, but chondroma of falx origin is a rare circumstance. Indeed, the intracranial chondromas rise from falx is mostly in relation with syndromic disorders such as Mafuccis syndrome or Olliers syndrome. Here, we reported a rare case of falxian intracranial chondroma in a young man who has normal physical examination and no signs of any syndromic disorder. The goal of this paper was to raise awareness about chondromas and suggest that chondroma be ruled out in any patient with masses arising from falx.

  10. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  11. Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning

    NARCIS (Netherlands)

    Joshi, U.; van der Sluijs, J.A.; Teule, G.J.; Pijpers, R.

    2005-01-01

    Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and

  12. Rare copy number deletions predict individual variation in intelligence.

    Directory of Open Access Journals (Sweden)

    Ronald A Yeo

    2011-01-01

    Full Text Available Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in "mutation load" emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent copy number variations (CNVs, and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77 had been administered the Wechsler Abbreviated Scale of Intelligence (WASI. After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = -.30, p = .01. As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES, we also examined the impact of ethnicity (Anglo/White vs. Other, as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed.

  13. Rare Copy Number Deletions Predict Individual Variation in Intelligence

    Science.gov (United States)

    Yeo, Ronald A.; Gangestad, Steven W.; Liu, Jingyu; Calhoun, Vince D.; Hutchison, Kent E.

    2011-01-01

    Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in “mutation load” emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent) copy number variations (CNVs), and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77) had been administered the Wechsler Abbreviated Scale of Intelligence (WASI). After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = −.30, p = .01). As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES), we also examined the impact of ethnicity (Anglo/White vs. Other), as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less) adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed. PMID:21298096

  14. China's rare-earth industry

    Science.gov (United States)

    Tse, Pui-Kwan

    2011-01-01

    Introduction China's dominant position as the producer of over 95 percent of the world output of rare-earth minerals and rapid increases in the consumption of rare earths owing to the emergence of new clean-energy and defense-related technologies, combined with China's decisions to restrict exports of rare earths, have resulted in heightened concerns about the future availability of rare earths. As a result, industrial countries such as Japan, the United States, and countries of the European Union face tighter supplies and higher prices for rare earths. This paper briefly reviews China's rare-earth production, consumption, and reserves and the important policies and regulations regarding the production and trade of rare earths, including recently announced export quotas. The 15 lanthanide elements-lanthanum, cerium, praseodymium, neodymium, promethium, samarium, europium, gadolinium, terbium, dysprosium, holmium, erbium, thulium, ytterbium, and lutetium (atomic numbers 57-71)-were originally known as the rare earths from their occurrence in oxides mixtures. Recently, some researchers have included two other elements-scandium and yttrium-in their discussion of rare earths. Yttrium (atomic number 39), which lies above lanthanum in transition group III of the periodic table and has a similar 3+ ion with a noble gas core, has both atomic and ionic radii similar in size to those of terbium and dysprosium and is generally found in nature with lanthanides. Scandium (atomic number 21) has a smaller ionic radius than yttrium and the lanthanides, and its chemical behavior is intermediate between that of aluminum and the lanthanides. It is found in nature with the lanthanides and yttrium. Rare earths are used widely in high-technology and clean-energy products because they impart special properties of magnetism, luminescence, and strength. Rare earths are also used in weapon systems to obtain the same properties.

  15. Rare earths 1998 market update

    International Nuclear Information System (INIS)

    Tourre, J.M.

    1998-01-01

    The rare earth industry has always been a world of rapid change with the emergence of new markets, new ores and new players, as well as the disappearance of old applications. Rare earth based products are used in a great diversity of applications such as hard disk drives, CD drives, batteries, capacitors, pigments, ceramics, polishing powders, fuel cells, flints, catalyst converter, fluid cracking catalysts, etc. South East Asia holds the largest share of the known reserve of rare earth ores and is one of the major markets for rare earth compounds; in the last ten years, China has become the largest producer of rare earth intermediates as well as an important exporter of separated rare earth elements. Today, China has approximately 150 factories producing rare earth compounds, most of which are experiencing financial difficulties due to the lack of knowledge of true market needs, lack of control of their distribution channels and production over-capacity. Recently the Chinese rare earth producers have recognized the situation and efforts are underway to rationalize rare earth production. Japan has dominated many of the major application markets, and is by far the largest market for metal and alloy products. This will remain the case for the next five years; however, new countries are emerging as significant users of rare earth products such as Korea, Taiwan and Malaysia. During the last ten years rare earth producers adjusted to several radical changes that affected the raw materials, the application mix and the price structure. New producers have emerged, especially from China; some have subsequently stopped their activities while others have focused their efforts in a specific market segment

  16. [Genetics of ischemic stroke].

    Science.gov (United States)

    Gschwendtner, A; Dichgans, M

    2013-02-01

    Stroke is one of the most widespread causes of mortality und disability worldwide. Around 80 % of strokes are ischemic and different forms of intracranial bleeding account for the remaining cases. Monogenic stroke disorders are rare but the diagnosis may lead to specific therapeutic consequences for the affected patients who are predominantly young. In common sporadic stroke, genetic factors play a role in the form of susceptibility genes. Their discovery may give rise to new therapeutic options in the future.

  17. Genetics Home Reference: optic atrophy type 1

    Science.gov (United States)

    ... Nerve Atrophy Encyclopedia: Visual Acuity Test Health Topic: Color Blindness Health Topic: Optic Nerve Disorders Genetic and Rare ... Disease InfoSearch: Optic atrophy 1 Kids Health: What's Color Blindness? MalaCards: autosomal dominant optic atrophy, classic form Merck ...

  18. Genetics Home Reference: tetrasomy 18p

    Science.gov (United States)

    ... The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from ... usually the mother. Most affected individuals have no history of the disorder in their family. However, rare ...

  19. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  20. Genetics Home Reference: Pelizaeus-Merzbacher disease

    Science.gov (United States)

    ... condition worsens, affected children develop spasticity leading to joint deformities (contractures) that restrict movement. Individuals with connatal ... Topic: Leukodystrophies Health Topic: Neurologic Diseases Health Topic: Neuromuscular Disorders Genetic and Rare Diseases Information Center (1 ...

  1. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  2. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  3. Zebra: searching for rare diseases

    DEFF Research Database (Denmark)

    Dragusin, Radu; Petcu, Paula; Lioma, Christina

    2012-01-01

    disease diagnostic hypotheses in the domain of medical IR. In this work, we build upon an existing vertical medical search engine, Zebra, that is focused on rare disease diagnosis. In previous work, Zebra has been evaluated using real-life medical cases of rare and difficult diseases, and has been found...

  4. Comparison of statistical tests for association between rare variants and binary traits.

    OpenAIRE

    Bacanu, SA; Nelson, MR; Whittaker, JC

    2012-01-01

    : Genome-wide association studies have found thousands of common genetic variants associated with a wide variety of diseases and other complex traits. However, a large portion of the predicted genetic contribution to many traits remains unknown. One plausible explanation is that some of the missing variation is due to the effects of rare variants. Nonetheless, the statistical analysis of rare variants is challenging. A commonly used method is to contrast, within the same region (gene), the fr...

  5. Cosmology tests in rare kaon decays

    Directory of Open Access Journals (Sweden)

    Duk Viacheslav

    2016-01-01

    Full Text Available The Standard Model (SM of particle physics is an extremely successful theory that effectively describes strong and electroweak interactions up to the energies presently accessible. Still, the SM does not explain the observed parameters of neutrino oscillations, baryon asymmetry of the Universe and Dark Matter (DM, and contains a fine-tuning of 16 orders of magnitude (the gauge hierarchy problem. Various New Physics (NP models beyond the SM have been developed in order to address the above limitations. This paper concentrates on several models related to cosmology and their tests in rare kaon decays. In particular, recent NA48/2 results on the search for heavy neutrinos, light in-flatons and dark photons are presented. Prospects for the ongoing NA62 experiment are discussed.

  6. A rare case of benign omentum teratoma

    Directory of Open Access Journals (Sweden)

    Sforza Marcos

    2012-01-01

    Full Text Available Introduction. Mature teratomas (benign cystic teratomas or dermoid cysts are among the most common ovarian tumours; however, teratomas of the omentum and mesentery are extremely rare. Teratoma in the intraperitoneal cavity is uncommon and atypical, and it is even more uncommon in adulthood. Case Outline. An 82-year-old female was admitted to our department with clinical signs of abdominal tumour. The ultrasound scan and preoperative laboratory tests were done. Explorative laparotomy revealed tumour with torsion on its pedicle at the greater omentum. After removal of the mass and the incision a tooth and hair were found, characteristics of teratoma. Conclusion. The excision was very effective and also definitive treatment for this case. The patient recovered well and was discharged 3 days later. The patient probably carried the tumour all her life asymptomatically until admission.

  7. Intraoral hydatid cyst: A rare case report

    Directory of Open Access Journals (Sweden)

    Ravi Kiran Alaparthi

    2015-01-01

    Full Text Available "Hydatid" is a Greek word which means "a drop of water." Hydatid cysts occur in hydatid disease or echinococcosis, which is one of the most geographically prevalent zoonosis. This zoonotic infection in humans is mainly caused by infection by the larval stage of the dog tapeworm Echinococcus granulosus. This tapeworm infestation is widespread in sheep, goats, cattle, and dogs. This chronic disease is present worldwide among herding populations who live in close proximity to dogs and herd animals. It is a serious and potentially fatal condition and symptoms may occur a long time after the early infection. The most frequently affected organs are liver, lungs, followed by bones and brain, and extremely unusual occurrence has been found in the oral cavity, which was noticed in the present case. So hereby, we reveal a very rare case of intraoral hydatid cyst in a 20-year-old female patient.

  8. Primary laryngeal leishmaniasis: A rare case report

    Directory of Open Access Journals (Sweden)

    Kumar Bipin

    2009-01-01

    Full Text Available Laryngeal leishmaniasis is extremely rare. We report a case of primary laryngeal leishmaniasis in a 70-year-old male who was admitted with complaints of gradual progressive hoarseness of the voice, dyspnea, cough for the past 3 months and noisy breathing for the past 5 days. An X-ray of the soft tissue of the neck showed a prevertebral soft tissue mass causing narrowing of the airway at the C6-C7 vertebral level. A computerized tomography (CT scan showed a soft tissue mass in the subglottic region causing significant narrowing of the airway. A direct laryngoscopy showed a pinkish-white, friable mass involving the subglottic region and the anterior half of the vocal cords. With the clinical suspicion of malignancy, an endoscopic biopsy was done. A histopathological examination showed diffuse mixed inflammatory cell infiltrate in subepithelium with numerous Leishmania donovani bodies in the cytoplasm of histiocytes.

  9. Cutaneous collagenous vasculopathy: A rare case report

    Directory of Open Access Journals (Sweden)

    Kinjal Deepak Rambhia

    2016-01-01

    Full Text Available Cutaneous collagenous vasculopathy (CCV is a distinct, rare, and underdiagnosed condition. We report a case of CCV in a 50-year-old woman presenting as asymptomatic, erythematous to hyperpigmented nonblanchable macules over both the lower extremities. The clinical differential diagnosis of the lesions was pigmented purpuric dermatoses (Schamberg's purpura and cutaneous small vessel vasculitis. Histology of the lesions revealed dilated superficial dermal vessels with abundant pink hyaline material in the vessel wall, which stained with periodic acid Schiff stain. The patient was diagnosed as CCV. This condition remains largely underdiagnosed and is commonly mistaken for pigmented purpuric dermatosis or generalized essential telangiectasia. Emphasis on the differentiation of CCV from its clinical and histological mimicks is made.

  10. Mesothelioma - A rare cause of dysphagia

    Directory of Open Access Journals (Sweden)

    Vishwanathan Swati

    2016-08-01

    Full Text Available A 81-year-old elderly Caucasian male presented with progressive dysphagia and unintentional weight loss over four months. His history was significant for asbestos exposure; however there was no history of asbestos related lung disease. Barium swallow showed achalasia and a subsequent CT chest showed a posterior mediastinal mass 11.8×9.1×5.8cm, compressing the distal oesophagus. Laparoscopic biopsy of the mass showed an epitheloid mesothelioma. Mass was deemed unresectable and patient was started on chemotherapy with Cisplatin/Pemetrexed. Localised mesothelioma is extremely rare, and dysphagia can be uncommon presenting feature. 7.4 per cent of cases of Pseudoachalasia are attributed to mesothelioma

  11. Rare human diseases: 9p deletion syndrome

    Directory of Open Access Journals (Sweden)

    Galagan V.O.

    2014-09-01

    Full Text Available Objective of the study was to review the anamnesis, pheno - and genotype in patients with rare chromosome disorders such as 9p deletion syndrome. Genetic methods of investigation (clinical and genealogical, cytogenetic, FISH- method, paraclinical and instrumental methods of examination were used. Karyotyping was performed by the G-method of differential staining of chromosomes. Only three cases of pathology were diagnosed in the Medical Genetics Center over the last 10 years. By anamnesis data nobody in the probands’ families had bad habits, was exposed to occupational hazards, took part in the elimination of the Chernobyl accident or lived in contaminated areas. Clinical signs of diseases have not been identified in probands’ parents. All probands had trigonocephaly, bilateral epicanthal folds, ocular hypertelorism, downslanting palpebral fissures, long philtrum, flat face and nasal bridge, low set ears with malformed auricles. Two patients of three ones had exophthalmos, contracture of the second and third fingers, abnormal external genitalia. In all three cases there was monosomy of chromosome 9 of critical segment p 24. Normal karyotypes were seen in all parents, so there were three cases of new mutations of 9p deletion syndrome. Retardation of physical, psycho-spech, mental development in proband with or without congenital anomalies requires medical genetic counseling in a specialized institution. Cases of reproductive loss in anamnesis require cytogenetic investigation of fetal membranes and amniotic fluid.

  12. Tail-like Congenital Duplication of Lower Extremity (Extra Leg or ...

    African Journals Online (AJOL)

    2018-01-01

    Jan 1, 2018 ... ABSTRACT. BACKGROUND: Congenital duplication of lower extremity, either complete or incomplete is extremely rare. Only 26 cases had been reported till 2010, of which only 5 cases had feature of complete duplication. Theories have been proposed that the cause of this abnormality includes maternal ...

  13. Rare event simulation in radiation transport

    International Nuclear Information System (INIS)

    Kollman, C.

    1993-10-01

    This dissertation studies methods for estimating extremely small probabilities by Monte Carlo simulation. Problems in radiation transport typically involve estimating very rare events or the expected value of a random variable which is with overwhelming probability equal to zero. These problems often have high dimensional state spaces and irregular geometries so that analytic solutions are not possible. Monte Carlo simulation must be used to estimate the radiation dosage being transported to a particular location. If the area is well shielded the probability of any one particular particle getting through is very small. Because of the large number of particles involved, even a tiny fraction penetrating the shield may represent an unacceptable level of radiation. It therefore becomes critical to be able to accurately estimate this extremely small probability. Importance sampling is a well known technique for improving the efficiency of rare event calculations. Here, a new set of probabilities is used in the simulation runs. The results are multiple by the likelihood ratio between the true and simulated probabilities so as to keep the estimator unbiased. The variance of the resulting estimator is very sensitive to which new set of transition probabilities are chosen. It is shown that a zero variance estimator does exist, but that its computation requires exact knowledge of the solution. A simple random walk with an associated killing model for the scatter of neutrons is introduced. Large deviation results for optimal importance sampling in random walks are extended to the case where killing is present. An adaptive ''learning'' algorithm for implementing importance sampling is given for more general Markov chain models of neutron scatter. For finite state spaces this algorithm is shown to give with probability one, a sequence of estimates converging exponentially fast to the true solution

  14. A rare variant of first branchial cleft fistula.

    Science.gov (United States)

    Ramnani, S; Mungutwar, V; Goyal, N K; Bansal, A

    2009-12-01

    We report an extremely rare variant of first branchial cleft anomaly. A 15-year-old girl presented with a history of recurrent mucopurulent discharge from an opening in the left infra-auricular region, since birth. Computed tomography fistulography showed a tortuous tract measuring approximately 4.61 cm, extending anteroinferiorly and medially from the external inframeatal opening to the lateral nasopharyngeal wall (anterior to the fossa of Rosenmuller). The tract was connected to the deep lobe of the parotid gland and lay 0.67 cm anterior to the carotid artery and posterior to the medial pterygoid muscle. This was an extremely rare variant of first branchial cleft fistula. To the best of our knowledge, this is the first case of its type to be reported. Computed tomography fistulography is the imaging modality of choice for the diagnosis of branchial cleft fistula, and will also assist surgical planning.

  15. Rare manifestations of sirenomelia syndrome: a report of five cases.

    Science.gov (United States)

    Drossou-Agakidou, Vasiliki; Xatzisevastou-Loukidou, Chariklia; Soubasi, Vasiliki; Kostopoulou, Eyanthia; Laporda, Alexandra; Pantzaki, Afroditi; Agelidou, Stamatia; Kremenopoulos, Georgios

    2004-10-01

    Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.

  16. Recommendations for the tuning of rare event probability estimators

    International Nuclear Information System (INIS)

    Balesdent, Mathieu; Morio, Jérôme; Marzat, Julien

    2015-01-01

    Being able to accurately estimate rare event probabilities is a challenging issue in order to improve the reliability of complex systems. Several powerful methods such as importance sampling, importance splitting or extreme value theory have been proposed in order to reduce the computational cost and to improve the accuracy of extreme probability estimation. However, the performance of these methods is highly correlated with the choice of tuning parameters, which are very difficult to determine. In order to highlight recommended tunings for such methods, an empirical campaign of automatic tuning on a set of representative test cases is conducted for splitting methods. It allows to provide a reduced set of tuning parameters that may lead to the reliable estimation of rare event probability for various problems. The relevance of the obtained result is assessed on a series of real-world aerospace problems

  17. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  18. Extreme Programming Pocket Guide

    CERN Document Server

    Chromatic

    2003-01-01

    Extreme Programming (XP) is a radical new approach to software development that has been accepted quickly because its core practices--the need for constant testing, programming in pairs, inviting customer input, and the communal ownership of code--resonate with developers everywhere. Although many developers feel that XP is rooted in commonsense, its vastly different approach can bring challenges, frustrations, and constant demands on your patience. Unless you've got unlimited time (and who does these days?), you can't always stop to thumb through hundreds of pages to find the piece of info

  19. Upper extremity golf injuries.

    Science.gov (United States)

    Cohn, Michael A; Lee, Steven K; Strauss, Eric J

    2013-01-01

    Golf is a global sport enjoyed by an estimated 60 million people around the world. Despite the common misconception that the risk of injury during the play of golf is minimal, golfers are subject to a myriad of potential pathologies. While the majority of injuries in golf are attributable to overuse, acute traumatic injuries can also occur. As the body's direct link to the golf club, the upper extremities are especially prone to injury. A thorough appreciation of the risk factors and patterns of injury will afford accurate diagnosis, treatment, and prevention of further injury.

  20. Common and Rare Genetic Variants Associated With Alzheimer's Disease.

    Science.gov (United States)

    Marei, Hany E; Althani, Asmaa; Suhonen, Jaana; El Zowalaty, Mohamed E; Albanna, Mohammad A; Cenciarelli, Carlo; Wang, Tengfei; Caceci, Thomas

    2016-07-01

    Alzheimer's disease (AD) is one of the most devastating disorders. Despite the continuing increase of its incidence among aging populations, no effective cure has been developed mainly due to difficulties in early diagnosis of the disease before damaging of the brain, and the failure to explore its complex underlying molecular mechanisms. Recent technological advances in genome-wide association studies (GWAS) and high throughput next generation whole genome, and exome sequencing had deciphered many of AD-related loci, and discovered single nucleotide polymorphisms (SNPs) that are associated with altered AD molecular pathways. Highlighting altered molecular pathways linked to AD pathogenesis is crucial to identify novel diagnostic and therapeutic AD targets. © 2015 Wiley Periodicals, Inc.

  1. Microscopic haematuria: A rare presentation of typhoid fever.

    Science.gov (United States)

    Nisahan, Balasingam; Thirunavukarasu, Kumanan; Selvaratnam, Gowry

    2015-04-01

    Typhoid fever can cause a number of renal manifestations heretofore dubbed 'nephrotyphoid'. Haematuria in the absence of renal impairment is extremely rare among typhoid patients. We report a case of an adult who presented with a prolonged febrile illness and microscopic haematuria. Blood culture confirmed the diagnosis of typhoid and the patient was treated successfully with ceftriaxone. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  2. Soft-Tissue Chondroma of Anterior Gingiva: A Rare Entity

    Directory of Open Access Journals (Sweden)

    Dhana Lakshmi Jeyasivanesan

    2018-01-01

    Full Text Available Soft-tissue chondroma is a rare, benign, slow-growing tumor made up of heterotopic cartilaginous tissue. It occurs most commonly in the third and fourth decades in the hands and feet. Oral soft-tissue chondromas are uncommon and soft-tissue chondroma of gingiva is extremely uncommon. Here, we report an unusual case of soft-tissue chondroma of gingiva in a 50-year-old woman.

  3. PRIMARY CONJUNCTIVAL TUBERCULOSIS – A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Kulkarni Dinesh R, Sulegaon Ritesh V, Chulki Shashidhar F

    2015-07-01

    Full Text Available Tuberculosis is an endemic disease in India. Primary conjunctival tuberculosis is an uncommon condition and with better treatment of pulmonary tuberculosis it is now becoming extremely rare. Primary conjunctival Tuberculosis can present as unilateral conjunctivitis, hence laterality, chronicity and non-resolution of symptoms on treatment are indications for biopsy. In our patient conjunctival Tuberculosis was diagnosed on histopathology, which resulted in early implementation of antikochs’ treatment and complete resolution of the disease condition.

  4. A rare case of spinal dural arteriovenous fistula

    Directory of Open Access Journals (Sweden)

    Mariya Apostolova

    2012-12-01

    Full Text Available Spinal dural arteriovenous fistula (SDAVF is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms.

  5. Klippel-feil syndrome with situs inversus. A rare association

    International Nuclear Information System (INIS)

    Jalil, J.; Shafique, M.; Dar, N.R.

    2008-01-01

    Klippel-Feil Syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae. The clinical triad consists of short neck, low posterior hairline and limited neck movement. Multiple congenital anomalies have been associated with this disease. This is a case of KFS in a young girl along with situs inversus, which is an extremely rare association. Various systemic associations occurring in this multi-system disorder are also discussed. (author)

  6. Rare giant cell tumor involvement of the olecranon bone

    Directory of Open Access Journals (Sweden)

    Chen Yang

    2014-01-01

    Full Text Available Giant cell tumor (GCT of bone is a relatively common benign bone lesion and is usually located in long bones, but involvement of the olecranon is extremely rare. Here, we present a case of solitary GCT of bone in the olecranon that was confirmed by preoperative needle biopsy and postoperative histological examination. The treatment included intralesional curettage, allogeneic bone grafting, and plating. At 26 months follow-up, the patient had no local recurrence.

  7. Rare disease research: Breaking the privacy barrier

    Directory of Open Access Journals (Sweden)

    Deborah Mascalzoni

    2014-06-01

    Full Text Available Due to the few patients affected, rare disease research has to count on international registries to exist in order to produce significant research outputs. Data sharing of registries is therefore a unique resource to allow rare disease research to flourish and any lost data will jeopardize the quality of an already extremely difficult research. The rules usually applied to research such as the right to withdraw or the need for specific consent for every use of data can be detrimental in order to get effective results. Privacy rights regulated through traditional informed consent mechanisms have been regarded as a major barrier in order to effectively share data worldwide. Some authors argue that this barrier hampers results that could be beneficial to the patients so that another right will be overstated: the right to quality healthcare. We argue in this paper that privacy has been often interpreted just one-sided as the right to secrecy but it can entail another meaning: the right to manage one's own private sphere. Managing it pertains, not only to the right to deny access, but also to the right to grant access. At the same time research on patient participation and transparency shows that new forms of IT-based informed consent can provide a good balance between the right of individuals to be in control of their data and the opportunity for science to pursue international research.

  8. A rare adrenal incidentaloma: adrenal schwannoma.

    Science.gov (United States)

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [(18)F] fluorodeoxyglucose positron emission tomography (PET) were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging.

  9. Relationships among and variation within rare breeds of swine.

    Science.gov (United States)

    Roberts, K S; Lamberson, W R

    2015-08-01

    Extinction of rare breeds of livestock threatens to reduce the total genetic variation available for selection in the face of the changing environment and new diseases. Swine breeds facing extinction typically share characteristics such as small size, slow growth rate, and high fat percentage, which limit them from contributing to commercial production. Compounding the risk of loss of variation is the lack of pedigree information for many rare breeds due to inadequate herd books, which increases the chance that producers are breeding closely related individuals. By making genetic data available, producers can make more educated breeding decisions to preserve genetic diversity in future generations, and conservation organizations can prioritize investments in breed preservation. The objective of this study was to characterize genetic variation within and among breeds of swine and prioritize heritage breeds for preservation. Genotypes from the Illumina PorcineSNP60 BeadChip (GeneSeek, Lincoln, NE) were obtained for Guinea, Ossabaw Island, Red Wattle, American Saddleback, Mulefoot, British Saddleback, Duroc, Landrace, Large White, Pietrain, and Tamworth pigs. A whole-genome analysis toolset was used to construct a genomic relationship matrix and to calculate inbreeding coefficients for the animals within each breed. Relatedness and average inbreeding coefficient differed among breeds, and pigs from rare breeds were generally more closely related and more inbred ( Guinea pigs. Tamworth, Duroc, and Mulefoot tended to not cluster with the other 7 breeds.

  10. Poster "Maladies rares & sciences sociales"

    OpenAIRE

    Duysens, Fanny

    2018-01-01

    Le poster "Maladies rares & sciences sociales" visait à présenter la recherche doctorale de l'auteure au grand public dans le cadre de la Journée des Maladies Rares du Centre Hospitalier Universitaire de Liège dont le thème était "la recherche sur les maladies rares". Réalisé spécialement pour l'occasion, le poster explicitait de manière synthétique le sujet de recherche, la méthodologie, certains résultats, ainsi que les apports possibles des échanges entre chercheurs en sciences et sociales...

  11. Rare metal and rare earth pegmatites of Western India

    International Nuclear Information System (INIS)

    Maithani, P.B.; Nagar, R.K.

    1999-01-01

    Rajasthan Mica Belt in western India is one of the three major mica-producing Proterozoic pegmatite belts of India, the others being in Bihar and Andhra Pradesh. The pegmatites of these mica belts, in general, are associated with the rare metal (RM) and rare earth element (REE)-bearing minerals like columbite-tantalite, beryl, lepidolite and other multiple oxides. RM-REE pegmatites of Gujarat are devoid of commercially workable mica. These pegmatites are geologically characterised in this paper, based on their association with granite plutons geochemistry, and RM and REE potential. In addition to RM and RE-bearing pegmatites, granites of the Umedpur area, Gujarat also show anomalous concentration (0.97 wt%) of rare metals (6431 ppm Nb, 1266 ppm Ta, 454 ppm Sn, 173 ppm W), (1098 ppm Ce 1.36% Y 2 O 3 ) rare earths, and uranium (0.40% eU 3 O 8 ). Eluvial concentrations in the soil and panned concentrate (0.04-0.28 wt%) analysed up to 7.4%Nb 2 O 5 , 836 ppm Ta, and 1.31% Y. Discrete columbite-tantalite and betafite have been identified in these concentrates in addition to other minerals like zircon, rutile, sphene and xenotime. This area with discrete RM R EE mineral phases could be significant as a non-pegmatite source for rare metal and rare earths. (author)

  12. Ossification of the bilateral Achilles tendon: a rare entity

    International Nuclear Information System (INIS)

    Arora, Abhishek J; Arora, Richa

    2015-01-01

    Ossification of the Achilles tendon is a rare clinical entity comprising of one or more segments of variable sized ossified masses in the fibrocartilaginous substance of the tendon. The etiology of ossification of the Achilles tendon is multifactorial with recurrent trauma and surgery comprising major predisposing factors, with others being metabolic, systemic, and infectious diseases. The possibility of a genetic predisposition towards this entity has also been raised, but has not yet been proven. We present a rare case of ossification of the bilateral Achilles tendons without any history of trauma or surgery in a 48-year-old female patient

  13. Pediatric gliosarcoma with fibrosarcomatous differentiation: Report of a rare case

    Directory of Open Access Journals (Sweden)

    Shantha Ravisankar

    2012-01-01

    Full Text Available Gliosarcoma is a rare variant of glioblastoma with a biphasic pattern showing glial and mesenchymal differentiation. It is seen in adults during their fifth to sixth decades of life and is extremely rare in children. We report a case of primary gliosarcoma with fibrosarcomatous differentiation in an 11-year-old boy presenting with headache and vomiting. Imaging showed a contrast-enhancing isodense space-occupying lesion with areas of calcification in the right temporoparietal cortex. A total excision was done and, on histopathologic examination, a differential diagnostic consideration of gliosarcoma and teratoma with malignant transformation was made. After immunohistochemical analysis, a final diagnosis of gliosarcoma with fibrosarcomatous differentiation was then made. Primary gliosarcoma is a very rare tumor in children with a poor prognosis.

  14. A rare cause of recurrent gastrointestinal bleeding: mesenteric hemangioma

    Directory of Open Access Journals (Sweden)

    Zeytunlu Murat

    2009-01-01

    Full Text Available Abstract Lower gastrointestinal hemorrhage accounts for approximately 20% of gastrointestinal hemorrhage. The most common causes of lower gastrointestinal hemorrhage in adults are diverticular disease, inflammatory bowel disease, benign anorectal diseases, intestinal neoplasias, coagulopathies and arterio-venous malformations. Hemangiomas of gastrointestinal tract are rare. Mesenteric hemangiomas are also extremely rare. We present a 25-year-old female who was admitted to the emergency room with recurrent lower gastrointestinal bleeding. An intraluminal bleeding mass inside the small intestinal segment was detected during explorative laparotomy as the cause of the recurrent lower gastrointestinal bleeding. After partial resection of small bowel segment, the histopathologic examination revealed a cavernous hemagioma of mesenteric origin. Although rare, gastrointestinal hemangioma should be thought in differential diagnosis as a cause of recurrent lower gastrointestinal bleeding.

  15. Importance sampling of rare events in chaotic systems

    DEFF Research Database (Denmark)

    Leitão, Jorge C.; Parente Lopes, João M.Viana; Altmann, Eduardo G.

    2017-01-01

    space of chaotic systems. As examples of our general framework we compute the distribution of finite-time Lyapunov exponents (in different chaotic maps) and the distribution of escape times (in transient-chaos problems). Our methods sample exponentially rare states in polynomial number of samples (in......Finding and sampling rare trajectories in dynamical systems is a difficult computational task underlying numerous problems and applications. In this paper we show how to construct Metropolis-Hastings Monte-Carlo methods that can efficiently sample rare trajectories in the (extremely rough) phase...... both low- and high-dimensional systems). An open-source software that implements our algorithms and reproduces our results can be found in reference [J. Leitao, A library to sample chaotic systems, 2017, https://github.com/jorgecarleitao/chaospp]....

  16. Computer-assisted initial diagnosis of rare diseases

    Directory of Open Access Journals (Sweden)

    Rui Alves

    2016-07-01

    Full Text Available Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80% and sensitivity (≥99%, and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers.

  17. Extraordinarily Adaptive Properties of the Genetically Encoded Amino Acids

    Science.gov (United States)

    Ilardo, Melissa; Meringer, Markus; Freeland, Stephen; Rasulev, Bakhtiyor; Cleaves II, H. James

    2015-01-01

    Using novel advances in computational chemistry, we demonstrate that the set of 20 genetically encoded amino acids, used nearly universally to construct all coded terrestrial proteins, has been highly influenced by natural selection. We defined an adaptive set of amino acids as one whose members thoroughly cover relevant physico-chemical properties, or “chemistry space.” Using this metric, we compared the encoded amino acid alphabet to random sets of amino acids. These random sets were drawn from a computationally generated compound library containing 1913 alternative amino acids that lie within the molecular weight range of the encoded amino acids. Sets that cover chemistry space better than the genetically encoded alphabet are extremely rare and energetically costly. Further analysis of more adaptive sets reveals common features and anomalies, and we explore their implications for synthetic biology. We present these computations as evidence that the set of 20 amino acids found within the standard genetic code is the result of considerable natural selection. The amino acids used for constructing coded proteins may represent a largely global optimum, such that any aqueous biochemistry would use a very similar set. PMID:25802223

  18. Extraordinarily adaptive properties of the genetically encoded amino acids.

    Science.gov (United States)

    Ilardo, Melissa; Meringer, Markus; Freeland, Stephen; Rasulev, Bakhtiyor; Cleaves, H James

    2015-03-24

    Using novel advances in computational chemistry, we demonstrate that the set of 20 genetically encoded amino acids, used nearly universally to construct all coded terrestrial proteins, has been highly influenced by natural selection. We defined an adaptive set of amino acids as one whose members thoroughly cover relevant physico-chemical properties, or "chemistry space." Using this metric, we compared the encoded amino acid alphabet to random sets of amino acids. These random sets were drawn from a computationally generated compound library containing 1913 alternative amino acids that lie within the molecular weight range of the encoded amino acids. Sets that cover chemistry space better than the genetically encoded alphabet are extremely rare and energetically costly. Further analysis of more adaptive sets reveals common features and anomalies, and we explore their implications for synthetic biology. We present these computations as evidence that the set of 20 amino acids found within the standard genetic code is the result of considerable natural selection. The amino acids used for constructing coded proteins may represent a largely global optimum, such that any aqueous biochemistry would use a very similar set.

  19. Variations in morphological and life-history traits under extreme ...

    Indian Academy of Sciences (India)

    Two extremely stressful temperatures (18°C and 32°C) and one standard ... and non-stressful environments on the morphological and life-history traits in males and ... Genetics Laboratory, Department of Zoology, Banaras Hindu University, ...

  20. Prune Belly syndrome: A rare case report.

    Science.gov (United States)

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  1. Organizational Learning in Rare Events

    DEFF Research Database (Denmark)

    Andersen, Kristina Vaarst; Tyler, Beverly; Beukel, Karin

    When organizations encounter rare events they often find it challenging to extract learning from the experience. We analyze opportunities for organizational learning in one such rare event, namely Intellectual Property (IP) litigation, i.e., when organizations take disputes regarding their intell......When organizations encounter rare events they often find it challenging to extract learning from the experience. We analyze opportunities for organizational learning in one such rare event, namely Intellectual Property (IP) litigation, i.e., when organizations take disputes regarding...... the organization little discretion to utilize any learning from past litigation success. Thus, learning appears be to most beneficial in infringement cases. Based on statistical analysis of 10,211 litigation court cases in China, we find support for our hypotheses. Our findings suggest that organizations can learn...

  2. Economic aspects of rare diseases.

    Science.gov (United States)

    Borski, Krzysztof

    2015-01-01

    Economic problems related to the prevention, diagnosis and treatment of rare diseases are presented paying particular attention to the costs of financing treatment, including the issue of its refund, which is a fundamental and difficult to solve economic problem of the health care system. Rare diseases, despite the low frequency of occurrence, together cover a large group of diseases being a serious medical, social and economic problem. The adoption of Polish National Plan for Rare Diseases resulting from the recommendations of the Council of the European Union, the extension of institutional activities related to the area of public health and social initiatives seeking innovative solutions to create a model of social support for patients and their families, with very high complexity of the issues regarding rare diseases, results in the need for a coherent, comprehensive, system operations and adoption of comprehensive solutions.

  3. Investigating NARCCAP Precipitation Extremes via Bivariate Extreme Value Theory (Invited)

    Science.gov (United States)

    Weller, G. B.; Cooley, D. S.; Sain, S. R.; Bukovsky, M. S.; Mearns, L. O.

    2013-12-01

    We introduce methodology from statistical extreme value theory to examine the ability of reanalysis-drive regional climate models to simulate past daily precipitation extremes. Going beyond a comparison of summary statistics such as 20-year return values, we study whether the most extreme precipitation events produced by climate model simulations exhibit correspondence to the most extreme events seen in observational records. The extent of this correspondence is formulated via the statistical concept of tail dependence. We examine several case studies of extreme precipitation events simulated by the six models of the North American Regional Climate Change Assessment Program (NARCCAP) driven by NCEP reanalysis. It is found that the NARCCAP models generally reproduce daily winter precipitation extremes along the Pacific coast quite well; in contrast, simulation of past daily summer precipitation extremes in a central US region is poor. Some differences in the strength of extremal correspondence are seen in the central region between models which employ spectral nudging and those which do not. We demonstrate how these techniques may be used to draw a link between extreme precipitation events and large-scale atmospheric drivers, as well as to downscale extreme precipitation simulated by a future run of a regional climate model. Specifically, we examine potential future changes in the nature of extreme precipitation along the Pacific coast produced by the pineapple express (PE) phenomenon. A link between extreme precipitation events and a "PE Index" derived from North Pacific sea-surface pressure fields is found. This link is used to study PE-influenced extreme precipitation produced by a future-scenario climate model run.

  4. Rare earth industries: Downstream business

    International Nuclear Information System (INIS)

    2011-01-01

    The value chain of the rare earths business involves mining, extraction, processing, refining and the manufacture of an extensive range of downstream products which find wide applications in such industries including aerospace, consumer electronics, medical, military, automotive, renewable wind and solar energy and telecommunications. In fact the entire gamut of the high-tech industries depends on a sustainable supply of rare earths elements. The explosive demand in mobile phones is an excellent illustration of the massive potential that the rare earths business offers. In a matter of less than 20 years, the number of cell phones worldwide has reached a staggering 5 billion. Soon, going by the report of their growth in sales, the world demand for cell phones may even exceed the global population. Admittedly, the rare earths business does pose certain risks. Top among the risks are the health and safety risks. The mining, extraction and refining of rare earths produce residues and wastes which carry health and safety risks. The residues from the extraction and refining are radioactive, while their effluent waste streams do pose pollution risks to the receiving rivers and waterways. But, as clearly elaborated in a recent report by IAEA experts, there are technologies and systems available to efficiently mitigate such risks. The risks are Rare Earth manageable. However, it is crucial that the risk and waste management procedures are strictly followed and adhered to. This is where effective monitoring and surveillance throughout the life of all such rare earths facilities is crucial. Fortunately, Malaysia's regulatory standards on rare earths follow international standards. In some areas, Malaysia's regulatory regime is even more stringent than the international guidelines. (author)

  5. Rare earth metal alloy magnets

    International Nuclear Information System (INIS)

    Harris, I.R.; Evans, J.M.; Nyholm, P.S.

    1979-01-01

    This invention relates to rare earth metal alloy magnets and to methods for their production. The technique is based on the fact that rare earth metal alloys (for e.g. cerium or yttrium) which have been crumbled to form a powder by hydride formation and decomposition can be used for the fabrication of magnets without the disadvantages inherent in alloy particle size reduction by mechanical milling. (UK)

  6. Rare beauty and charm decays

    International Nuclear Information System (INIS)

    Blake, T.

    2016-01-01

    Rare beauty and charm decays can provide powerful probes of physics beyond the Standard Model. These proceedings summarise the latest measurements of rare beauty and charm decays from the LHCb experiment at the end of Run 1 of the LHC. Whilst the majority of the measurements are consistent with SM predictions, small differences are seen in the rate and angular distribution of b → sℓ"+ℓ"− decay processes.

  7. Extreme interplanetary rotational discontinuities at 1 AU

    Science.gov (United States)

    Lepping, R. P.; Wu, C.-C.

    2005-11-01

    This study is concerned with the identification and description of a special subset of four Wind interplanetary rotational discontinuities (from an earlier study of 134 directional discontinuities by Lepping et al. (2003)) with some "extreme" characteristics, in the sense that every case has (1) an almost planar current sheet surface, (2) a very large discontinuity angle (ω), (3) at least moderately strong normal field components (>0.8 nT), and (4) the overall set has a very broad range of transition layer thicknesses, with one being as thick as 50 RE and another at the other extreme being 1.6 RE, most being much thicker than are usually studied. Each example has a well-determined surface normal (n) according to minimum variance analysis and corroborated via time delay checking of the discontinuity with observations at IMP 8 by employing the local surface planarity. From the variance analyses, most of these cases had unusually large ratios of intermediate-to-minimum eigenvalues (λI/λmin), being on average 32 for three cases (with a fourth being much larger), indicating compact current sheet transition zones, another (the fifth) extreme property. For many years there has been a controversy as to the relative distribution of rotational (RDs) to tangential discontinuities (TDs) in the solar wind at 1 AU (and elsewhere, such as between the Sun and Earth), even to the point where some authors have suggested that RDs with large ∣Bn∣s are probably not generated or, if generated, are unstable and therefore very rare. Some of this disagreement apparently has been due to the different selection criteria used, e.g., some allowed eigenvalue ratios (λI/λmin) to be almost an order of magnitude lower than 32 in estimating n, usually introducing unacceptable error in n and therefore also in ∣Bn∣. However, we suggest that RDs may not be so rare at 1 AU, but good quality cases (where ∣Bn∣ confidently exceeds the error in ∣Bn∣) appear to be uncommon, and further

  8. Attribution of extreme rainfall from Hurricane Harvey, August 2017

    OpenAIRE

    Van Oldenborgh, Geert Jan; Van Der Wiel, Karin; Sebastian, A.G.; Singh, Roop; Arrighi, Julie; Otto, Friederike; Haustein, Karsten; Li, Sihan; Vecchi, Gabriel; Cullen, Heidi

    2017-01-01

    During August 25-30, 2017, Hurricane Harvey stalled over Texas and caused extreme precipitation, particularly over Houston and the surrounding area on August 26-28. This resulted in extensive flooding with over 80 fatalities and large economic costs. It was an extremely rare event: the return period of the highest observed three-day precipitation amount, 1043.4 mm 3dy-1 at Baytown, is more than 9000 years (97.5% one-sided confidence interval) and return periods exceeded 1000 yr (750 mm 3dy-1)...

  9. [Nephroblastoma and xeroderma pigmentosum: A rare association].

    Science.gov (United States)

    Lahlimi, F; Harif, M; Elhoudzi, J

    2016-01-01

    Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder, more common in cases of consanguinity. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect leading to the defective repair of DNA damaged by ultraviolet (UV) radiation. XP is characterized by a high incidence of skin cancer on exposed regions. We report the case of a 5-year-old boy, followed for xeroderma pigmentosum since the age of 4 years. His sister also has the same anomaly. He presented an abdominal mass revealed by abdominal pain and vomiting. Radiological examinations revealed a nephroblastoma with lung metastases. He received primary chemotherapy for six cycles (vincristine, and actinomycin-d adriamycin), then surgery with ureteronephrectomy. Pathological examination of the nephrectomy specimen confirmed the diagnosis of Wilms tumor with a diffuse anaplastic component reaching 50%. The patient was treated according to the GFAOP stage III protocol, with high histological risk. The outcome was favorable but complicated by renal failure due to the toxicity of the treatment. He is currently in complete remission at 1 year from the end of treatment. The association of xeroderma pigmentosum and nephroblastoma is a rare combination. This case illustrates the problem of management of both severe and difficult conditions. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  10. Genetics Home Reference: rhabdoid tumor predisposition syndrome

    Science.gov (United States)

    ... rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT). Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? Genetic ... Cancer Institute: Childhood Central Nervous System Atypical Teratoid/Rhabdoid ...

  11. Genetics Home Reference: adenosine deaminase deficiency

    Science.gov (United States)

    ... Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia (PDF) Genetic Testing (1 link) Genetic Testing Registry: Severe ... Diseases Immune Deficiency Foundation Jeffrey Modell Foundation National Organization for Rare ... OMIM (1 link) SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE ...

  12. Genetics Home Reference: van der Woude syndrome

    Science.gov (United States)

    ... What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome ...

  13. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  14. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  15. Personalized medicine and human genetic diversity.

    Science.gov (United States)

    Lu, Yi-Fan; Goldstein, David B; Angrist, Misha; Cavalleri, Gianpiero

    2014-07-24

    Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. Copyright © 2014 Cold Spring Harbor Laboratory Press; all rights reserved.

  16. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  17. Family studies to find rare high risk variants in migraine

    DEFF Research Database (Denmark)

    Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

    2017-01-01

    genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families....... A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides...... an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising...

  18. Some rare Indo-Pacific coral species are probable hybrids.

    Directory of Open Access Journals (Sweden)

    Zoe T Richards

    Full Text Available BACKGROUND: Coral reefs worldwide face a variety of threats and many coral species are increasingly endangered. It is often assumed that rare coral species face higher risks of extinction because they have very small effective population sizes, a predicted consequence of which is decreased genetic diversity and adaptive potential. METHODOLOGY/PRINCIPAL FINDINGS: Here we show that some Indo-Pacific members of the coral genus Acropora have very small global population sizes and are likely to be unidirectional hybrids. Whether this reflects hybrid origins or secondary hybridization following speciation is unclear. CONCLUSIONS/SIGNIFICANCE: The interspecific gene flow demonstrated here implies increased genetic diversity and adaptive potential in these coral species. Rare Acropora species may therefore be less vulnerable to extinction than has often been assumed because of their propensity for hybridization and introgression, which may increase their adaptive potential.

  19. Bayesian analysis of rare events

    Energy Technology Data Exchange (ETDEWEB)

    Straub, Daniel, E-mail: straub@tum.de; Papaioannou, Iason; Betz, Wolfgang

    2016-06-01

    In many areas of engineering and science there is an interest in predicting the probability of rare events, in particular in applications related to safety and security. Increasingly, such predictions are made through computer models of physical systems in an uncertainty quantification framework. Additionally, with advances in IT, monitoring and sensor technology, an increasing amount of data on the performance of the systems is collected. This data can be used to reduce uncertainty, improve the probability estimates and consequently enhance the management of rare events and associated risks. Bayesian analysis is the ideal method to include the data into the probabilistic model. It ensures a consistent probabilistic treatment of uncertainty, which is central in the prediction of rare events, where extrapolation from the domain of observation is common. We present a framework for performing Bayesian updating of rare event probabilities, termed BUS. It is based on a reinterpretation of the classical rejection-sampling approach to Bayesian analysis, which enables the use of established methods for estimating probabilities of rare events. By drawing upon these methods, the framework makes use of their computational efficiency. These methods include the First-Order Reliability Method (FORM), tailored importance sampling (IS) methods and Subset Simulation (SuS). In this contribution, we briefly review these methods in the context of the BUS framework and investigate their applicability to Bayesian analysis of rare events in different settings. We find that, for some applications, FORM can be highly efficient and is surprisingly accurate, enabling Bayesian analysis of rare events with just a few model evaluations. In a general setting, BUS implemented through IS and SuS is more robust and flexible.

  20. A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

    Directory of Open Access Journals (Sweden)

    Ghulam Rehman Mohyuddin

    2012-01-01

    Full Text Available A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.

  1. Genetic sex determination and extinction.

    Science.gov (United States)

    Hedrick, Philip W; Gadau, Jürgen; Page, Robert E

    2006-02-01

    Genetic factors can affect the probability of extinction either by increasing the effect of detrimental variants or by decreasing the potential for future adaptive responses. In a recent paper, Zayed and Packer demonstrate that low variation at a specific locus, the complementary sex determination (csd) locus in Hymenoptera (ants, bees and wasps), can result in a sharply increased probability of extinction. Their findings illustrate situations in which there is a feedback process between decreased genetic variation at the csd locus owing to genetic drift and decreased population growth, resulting in an extreme type of extinction vortex for these ecologically important organisms.

  2. A rare metastasis from a rare brain tumour

    DEFF Research Database (Denmark)

    Aabenhus, Kristine; Hahn, Christoffer Holst

    2014-01-01

    This case report presents the story of a patient with an oligodendroglioma metastasizing to the bone marrow and to lymph nodes of the neck. The patient had undergone primary brain surgery 13 years prior to the discovery of metastases and radiotherapy directed at the brain tumour two months prior........ Oligodendroglioma are rare primary brain tumours of which extraneural metastasis is even more rare. The incidence of cases like this may be increasing because of better treatment and thus longer survival of patients with oligodendroglioma....

  3. Rare earth element and rare metal inventory of central Asia

    Science.gov (United States)

    Mihalasky, Mark J.; Tucker, Robert D.; Renaud, Karine; Verstraeten, Ingrid M.

    2018-03-06

    Rare earth elements (REE), with their unique physical and chemical properties, are an essential part of modern living. REE have enabled development and manufacture of high-performance materials, processes, and electronic technologies commonly used today in computing and communications, clean energy and transportation, medical treatment and health care, glass and ceramics, aerospace and defense, and metallurgy and chemical refining. Central Asia is an emerging REE and rare metals (RM) producing region. A newly compiled inventory of REE-RM-bearing mineral occurrences and delineation of areas-of-interest indicate this region may have considerable undiscovered resources.

  4. Are BALQSOs extreme accretors?

    Science.gov (United States)

    Yuan, M. J.; Wills, B. J.

    2002-12-01

    Broad Absorption Line (BAL) QSOs are QSOs with massive absorbing outflows up to 0.2c. Two hypothesis have been suggested in the past about the nature of BALQSOs: Every QSO might have BAL outflow with some covering factor. BALQSOs are those which happen to have outflow along our line of sight. BALQSOs have intrinsically different physical properties than non-BALQSOs. Based on BALQSO's optical emission properties and a large set of correlations linking many general QSO emission line and continuum properties, it has been suggested that BALQSOs might accrete at near Eddington limit with abundant of fuel supplies. With new BALQSO Hβ region spectroscopic observation conducted at UKIRT and re-analysis of literature data for low and high redshift non-BALQSOs, We confirm that BALQSOs have extreme Fe II and [O III] emission line properties. Using results derived from the latest QSO Hβ region reverberation mapping, we calculated Eddington ratios (˙ {M}/˙ {M}Edd) for our BAL and non-BALQSOs. The Fe II and [O III] strengths are strongly correlated with Eddington ratios. Those correlations link Eddington ratio to a large set of general QSO properties through the Boroson & Green Eigenvector 1. We find that BALQSOs have Eddington ratios close to 1. However, all high redshift, high luminosity QSOs have rather high Eddington ratios. We argue that this is a side effect from selecting the brightest objects. In fact, our high redshift sample might constitute BALQSO's high Eddington ratio orientation parent population.

  5. Genetics of allergy and allergic sensitization

    DEFF Research Database (Denmark)

    Bønnelykke, Klaus; Sparks, Rachel; Waage, Johannes

    2015-01-01

    information about shared genetics between allergy, related phenotypes and autoimmunity. Studies of monogenic diseases have elucidated critical cellular pathways and protein functions responsible for allergy. These complementary approaches imply genetic mechanisms involved in Th2 immunity, T......Our understanding of the specific genetic lesions in allergy has improved in recent years due to identification of common risk variants from genome-wide association studies (GWAS) and studies of rare, monogenic diseases. Large-scale GWAS have identified novel susceptibility loci and provided...

  6. Genetics of ischaemic stroke in young adults

    OpenAIRE

    Terni, Eva; Giannini, Nicola; Brondi, Marco; Montano, Vincenzo; Bonuccelli, Ubaldo; Mancuso, Michelangelo

    2015-01-01

    Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. ...

  7. Use of Contemporary Genetics in Cardiovascular Diagnosis

    OpenAIRE

    George, Alfred L.

    2014-01-01

    An explosion of knowledge regarding the genetic and genomic basis for rare and common diseases has provided a framework for revolutionizing the practice of medicine. Achieving the reality of a genomic medicine era requires that basic discoveries are effectively translated into clinical practice through implementation of genetic and genomic testing. Clinical genetic tests have become routine for many inherited disorders and can be regarded as the standard-of-care in many circumstances includin...

  8. New perspectives on rare connective tissue calcifying diseases.

    Science.gov (United States)

    Rashdan, Nabil A; Rutsch, Frank; Kempf, Hervé; Váradi, András; Lefthériotis, Georges; MacRae, Vicky E

    2016-06-01

    Connective tissue calcifying diseases (CTCs) are characterized by abnormal calcium deposition in connective tissues. CTCs are caused by multiple factors including chronic diseases (Type II diabetes mellitus, chronic kidney disease), the use of pharmaceuticals (e.g. warfarin, glucocorticoids) and inherited rare genetic diseases such as pseudoxanthoma elasticum (PXE), generalized arterial calcification in infancy (GACI) and Keutel syndrome (KTLS). This review explores our current knowledge of these rare inherited CTCs, and highlights the most promising avenues for pharmaceutical intervention. Advancing our understanding of rare inherited forms of CTC is not only essential for the development of therapeutic strategies for patients suffering from these diseases, but also fundamental to delineating the mechanisms underpinning acquired chronic forms of CTC. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  9. Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.

    Science.gov (United States)

    Song, Peipei; He, Jiangjiang; Li, Fen; Jin, Chunlin

    2017-02-01

    China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases - the "Rare Diseases Clinical Cohort Study" - was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020. The project plans to develop 109 technical standards, to establish and improve 2 national databases of rare diseases - a multi-center clinical database and a biological sample library, and to conduct studies on more than 50,000 registered cases of 50 different rare diseases. More importantly, this study will be combined with the concept of precision medicine. Chinese population-specific basic information on rare diseases, clinical information, and genomic information will be integrated to create a comprehensive predictive model with a follow-up database system and a model to evaluate prognosis. This will provide the evidence for accurate classification, diagnosis, treatment, and estimation of prognosis for rare diseases in China. Numerous challenges including data standardization, protecting patient privacy, big data processing, and interpretation of genetic information still need to be overcome, but research prospects offer great promise.

  10. Future possibilities in migraine genetics

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Esserlind, Ann-Louise; Olesen, Jes

    2012-01-01

    Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare...... variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses......, the technology will follow, rendering these approaches more applicable in the search for causative migraine genes in MO and MA. To date, no studies using NGS in migraine genetics have been published. In order to gain insight into the future possibilities of migraine genetics, we have looked at NGS studies...

  11. A note on extreme sets

    Directory of Open Access Journals (Sweden)

    Radosław Cymer

    2017-10-01

    Full Text Available In decomposition theory, extreme sets have been studied extensively due to its connection to perfect matchings in a graph. In this paper, we first define extreme sets with respect to degree-matchings and next investigate some of their properties. In particular, we prove the generalized Decomposition Theorem and give a characterization for the set of all extreme vertices in a graph.

  12. Successful treatment of extreme acute lead intoxication.

    Science.gov (United States)

    Mikler, J; Banovcin, P; Jesenak, M; Hamzikova, J; Statelova, D

    2009-03-01

    Severe acute lead intoxications are rare and are associated with accidental or purposeful ingestion. There were only few cases of severe to fatal poisonings reported in literature in children. We report a case of acute lead intoxication in a child with extremely high lead blood level of 20.4 micromol/L (422.7 microg/dL), who was treated with chelation and in whom significant organ dysfunction did not develop. Documented significant high level above 3.37 micromol/L (corresponding to 70 microg/dL) in this patient persisted for approximately 24 h. Adequate, single or combined chelatation therapy in early phase of acute lead poisoning is essential for the further patient's outcome.

  13. Likelihood estimators for multivariate extremes

    KAUST Repository

    Huser, Raphaë l; Davison, Anthony C.; Genton, Marc G.

    2015-01-01

    The main approach to inference for multivariate extremes consists in approximating the joint upper tail of the observations by a parametric family arising in the limit for extreme events. The latter may be expressed in terms of componentwise maxima, high threshold exceedances or point processes, yielding different but related asymptotic characterizations and estimators. The present paper clarifies the connections between the main likelihood estimators, and assesses their practical performance. We investigate their ability to estimate the extremal dependence structure and to predict future extremes, using exact calculations and simulation, in the case of the logistic model.

  14. Likelihood estimators for multivariate extremes

    KAUST Repository

    Huser, Raphaël

    2015-11-17

    The main approach to inference for multivariate extremes consists in approximating the joint upper tail of the observations by a parametric family arising in the limit for extreme events. The latter may be expressed in terms of componentwise maxima, high threshold exceedances or point processes, yielding different but related asymptotic characterizations and estimators. The present paper clarifies the connections between the main likelihood estimators, and assesses their practical performance. We investigate their ability to estimate the extremal dependence structure and to predict future extremes, using exact calculations and simulation, in the case of the logistic model.

  15. Safety aspects in rare earths recovery

    International Nuclear Information System (INIS)

    Bhattacharya, R.

    2014-01-01

    Recovery of rare earths involves mining of beach sands, mineral separation to obtain monazite and its chemical processing to obtain rare earth composites. The composites are then subjected to further chemical treatment to obtain individual rare earths. Although the separated out rare earths are not radioactive, the process for recovery of rare earths involve both radiological as well as conventional hazards. This paper highlights the safety aspects in the mining, mineral separation and chemical processing of monazite to obtain rare earths

  16. Exploring geovisualization symbology for landscape genetics

    DEFF Research Database (Denmark)

    Aoidh, Eoin Mac; Martinsohn, Jann Th.; Maes, Gregory E.

    2013-01-01

    or genetic expertise. While specialist applications exist, alternative accessible solutions do not provide adequate support for the visualization of multi‐attribute spatially referenced genetic population structure information. As a solution, we document our exploration for an appropriate symbology...... to communicate landscape genetic information through an accessible, web‐based interface. A full problem description, review of available technologies, development rationale, and discussion of the symbology exploration are provided.......Landscape genetics, which considers genetic population structure in the context of spatially referenced parameters in the surrounding landscape, has been shown to be extremely useful for wildlife management. Unfortunately its widespread uptake beyond the research community is hampered due to a lack...

  17. Further outlooks: extremely uncomfortable; Die weiteren Aussichten: extrem ungemuetlich

    Energy Technology Data Exchange (ETDEWEB)

    Resenhoeft, T.

    2006-07-01

    Climate is changing extremely in the last decades. Scientists dealing with extreme weather, should not only stare at computer simulations. They have also to turn towards psyche, seriously personal experiences, knowing statistics, relativise supposed sensational reports and last not least collecting more data. (GL)

  18. A rare tumoral combination, synchronous lung adenocarcinoma and mantle cell lymphoma of the pleura

    Directory of Open Access Journals (Sweden)

    Foroulis Christophoros N

    2008-12-01

    Full Text Available Abstract Background Coexistence of adenocarcinoma and mantle cell lymphoma in the same or different anatomical sites is extremely rare. We present a case of incidental discovery of primary lung adenocarcinoma and mantle cell lymphoma involving the pleura, during an axillary thoracotomy performed for a benign condition. Case presentation A 73-year old male underwent bullectomy and apical pleurectomy for persistent pneumothorax. A bulla of the lung apex was resected en bloc with a scar-like lesion of the lung, which was located in proximity with the bulla origin, by a wide wedge resection. Histologic examination of the stripped-off parietal pleura and of the bullectomy specimen revealed the synchronous occurrence of two distinct neoplasms, a lymphoma infiltrating the pleura and a primary, early lung adenocarcinoma. Immunohistochemical and fluorescence in situ hybridization assays were performed. The morphologic, immunophenotypic and genetic findings supported the diagnosis of primary lung adenocarcinoma (papillary subtype coexisting with a non-Hodgkin, B-cell lineage, mantle cell lymphoma involving both, visceral and parietal pleura and without mediastinal lymph node involvement. The neoplastic lymphoid cells showed the characteristic immunophenotype of mantle cell lymphoma and the translocation t(11;14. The patient received 6 cycles of chemotherapy, while pulmonary function tests precluded further pulmonary parenchyma resection (lobectomy for his adenocarcinoma. The patient is alive and without clinical and radiological findings of local recurrence or distant relapse from both tumors 14 months later. Conclusion This is the first reported case of a rare tumoral combination involving simultaneously lung and pleura, emphasizing at the incidental discovery of the two coexisting neoplasms during a procedure performed for a benign condition. Any tissue specimen resected during operations performed for non-tumoral conditions should be routinely sent for

  19. Lectures on rare B decays

    International Nuclear Information System (INIS)

    Masiero, A.

    1989-01-01

    This paper provides a pedagogical presentation of the class of the rare charmless B decays with strange particles in the final state. These processes involve the flavour changing neutral current transition b → s and, thus, they are GIM suppresses. They constitute a specially promising ground to test the Standard Model and the possible presence of new physics beyond it. In particular I show that the radiative decays b → s + π and b → s + g are priviledged places to look for large supersymmetric enhancements. The author reviews both the present experimental and theoretical situations in this field and point out the challenges that we have to meet in the 90's to have rare B physics play a role comparable to that of rare K physics

  20. Rare KL decays at Fermilab

    International Nuclear Information System (INIS)

    Schnetzer, St.

    1997-01-01

    Recent results and the future prospects for rare K L decay at Fermilab are described. A summary of all rare decay results from E799 Phase I (the 1991 run) are presented. Three new results: K L → e + e - μ + μ - , K L → π 0 μe, and π 0 → e + e - e + e - are discussed in detail. Improvements for KTeV (the 1996-1997 run) are discussed and the expected sensitivities listed. Finally, the KAMI program for rare decays with the Main Injector (2000 and beyond) is presented with emphasis on a search for the decay K L → π 0 νν-bar at O(10 -12 ) single-event-sensitivity. (author)

  1. A rare cause of hemoptysis

    Directory of Open Access Journals (Sweden)

    Meghan Aversa

    2014-01-01

    Full Text Available Angiosarcomas are rare, malignant, endothelial-cell tumors of vascular origin that can arise at any body site. They frequently metastasize to the lung, heralded by dyspnea, hemoptysis, chest pain, pneumothoraces, and diffuse pulmonary hemorrhage. However, in most cases lung metastases are discovered after the diagnosis of a primary angiosarcoma has already been established. Very rarely will an undiagnosed metastatic angiosarcoma present as diffuse pulmonary hemorrhage. We describe the case of a 59-year-old male who presented to hospital with dyspnea and hemoptysis. CT chest revealed rapidly progressing nodular changes and broncho-alveolar lavage returns were progressively bloody. Open lung wedge biopsy ultimately revealed metastatic angiosarcoma and extensive pulmonary hemorrhage. Our case highlights the key clinical, radiological, and pathological features of this rare malignancy that frequently metastasizes to the lung and reminds clinicians to consider it as a cause of hemoptysis and pulmonary hemorrhage.

  2. Ainhum - A Rare Case Report.

    Science.gov (United States)

    Prabhu, Ravi; Kannan, Narayanasamy Subbaraju; Vinoth, Sundaresan; Praveen, Chinnappan Balasubramanian

    2016-04-01

    The term 'AINHUM' is derived from the African word meaning 'to saw or cut'. True ainhum otherwise called dactylolysis spontanea is a condition involving soft tissue or digits with constricting rings commonly presenting in fifth toes, usually bilateral. It is to be differentiated from Pseudo-ainhum that occurs secondary to some hereditary and nonhereditary diseases that lead to annular constriction of digits. We report a rare case of true ainhum involving the left fourth toe only. It is a very rare case and a very few were reported worldwide. The highest incidence of ainhum has been reported in South Africa and South America. It is rarely reported in India. Ainhum when diagnosed and treated in early stages can be prevented from progressing to mutilating deformities.

  3. Rare and semi-rare decays at ATLAS

    CERN Document Server

    AUTHOR|(INSPIRE)INSPIRE-00213194; The ATLAS collaboration

    2016-01-01

    The measurements of the rare $B^0$-mesons decays processes performed by the ATLAS experiment at LHC are reviewed. Particular attention will be given to the measurement of the branching ratio of the $B^0_s$ and $B^0_d$ mesons decays into a pair of muons with the full Run 1 dataset corresponding to an integrated luminosity of 25 $\\rm{fb^{-1}}$.

  4. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  5. Assessing Climate Variability using Extreme Rainfall and ...

    African Journals Online (AJOL)

    user1

    extreme frequency); the average intensity of rainfall from extreme events ... frequency and extreme intensity indices, suggesting that extreme events are more frequent and intense during years with high rainfall. The proportion of total rainfall from ...

  6. The rare fluorinated natural products and biotechnological prospects for fluorine enzymology.

    Science.gov (United States)

    Chan, K K Jason; O'Hagan, David

    2012-01-01

    Nature has hardly evolved a biochemistry of fluorine although there is a low-level occurrence of fluoroacetate found in selected tropical and subtropical plants. This compound, which is generally produced in low concentrations, has been identified in the plants due to its high toxicity, although to date the biosynthesis of fluoroacetate in plants remains unknown. After that, fluorinated entities in nature are extremely rare, and despite increasingly sophisticated screening and analytical methods applied to natural product extraction, it has been 25 years since the last bona fide fluorinated natural product was identified from an organism. This was the reported isolation of the antibiotic 4-fluorothreonine and the toxin fluoroacetate in 1986 from Streptomyces cattleya. This bacterium has proven amenable to biochemical investigation, the fluorination enzyme (fluorinase) has been isolated and characterized, and the biosynthetic pathway to these bacterial metabolites has been elucidated. Also the fluorinase gene has been cloned into a host bacterium (Salinispora tropica), and this has enabled the de novo production of a bioactive fluorinated metabolite from fluoride ion, by genetic engineering. Biotechnological manipulation of the fluorinase offers the prospects for the assembly of novel fluorinated metabolites by fermentation technology. This is particularly attractive, given the backdrop that about 15-20% of pharmaceuticals licensed each year (new chemical entities) contain a fluorine atom. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Dioctophymiasis: A Rare Case Report.

    Science.gov (United States)

    Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

    2016-02-01

    Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

  8. Rare B decays, rare τ decays, and grand unification

    International Nuclear Information System (INIS)

    Sher, M.; Yuan, Y.

    1991-01-01

    In multi-Higgs-boson extensions of the standard model, tree-level flavor-changing neutral currents exist naturally, unless suppressed by some symmetry. For a given rate, the exchanged scalar or pseudoscalar mass is very sensitive to the flavor-changing coupling between the first two generations. Since the Yukawa couplings of the first two generations are unknown and certainly very small, bounds which rely on some assumed value of this flavor-changing coupling are quite dubious. One might expect the size (and reliability) of the Yukawa couplings involving the third generation to be greater. In this paper, we consider processes involving τ's and B's, and determine the bounds on the flavor-changing couplings which involve third-generation fields. The strongest bound in the quark sector comes from B-bar B mixing and in the lepton sector, surprisingly, from μ→eγ. It is then noted that the flavor-changing couplings in the quark sector are related to those in the lepton sector in many grand unified theories, and one can ask whether an analysis of rare τ decays or rare B decays will provide the strongest constraints. We show that rare B decays provide the strongest bounds, and that no useful information can be obtained from rare τ decays. It is also noted that the most promising decay modes are B→Kμτ and B s →μτ, and we urge experimenters to look for rare decay modes of the B in which a τ is in the final state

  9. Rare Event Simulation in Radiation Transport

    Science.gov (United States)

    Kollman, Craig

    This dissertation studies methods for estimating extremely small probabilities by Monte Carlo simulation. Problems in radiation transport typically involve estimating very rare events or the expected value of a random variable which is with overwhelming probability equal to zero. These problems often have high dimensional state spaces and irregular geometries so that analytic solutions are not possible. Monte Carlo simulation must be used to estimate the radiation dosage being transported to a particular location. If the area is well shielded the probability of any one particular particle getting through is very small. Because of the large number of particles involved, even a tiny fraction penetrating the shield may represent an unacceptable level of radiation. It therefore becomes critical to be able to accurately estimate this extremely small probability. Importance sampling is a well known technique for improving the efficiency of rare event calculations. Here, a new set of probabilities is used in the simulation runs. The results are multiplied by the likelihood ratio between the true and simulated probabilities so as to keep our estimator unbiased. The variance of the resulting estimator is very sensitive to which new set of transition probabilities are chosen. It is shown that a zero variance estimator does exist, but that its computation requires exact knowledge of the solution. A simple random walk with an associated killing model for the scatter of neutrons is introduced. Large deviation results for optimal importance sampling in random walks are extended to the case where killing is present. An adaptive "learning" algorithm for implementing importance sampling is given for more general Markov chain models of neutron scatter. For finite state spaces this algorithm is shown to give, with probability one, a sequence of estimates converging exponentially fast to the true solution. In the final chapter, an attempt to generalize this algorithm to a continuous

  10. Direct type gerbode defect with cleft in anterior mitral leaflet: A rarest of rare combination

    Directory of Open Access Journals (Sweden)

    Rakesh Jain

    2016-01-01

    Full Text Available A 15-year-old boy was evaluated for the new onset of dyspnea. He had no significant medical or surgical history. On echocardiography, he was found to have a direct communication between the left ventricle and the right atrium through the atrioventricular (AV septum (a rare type of Gerbode defect with an associated cleft in the anterior mitral leaflet. The combination of direct type Gerbode defect with the cleft of the anterior mitral leaflet is extremely rare.

  11. Isolated pulmonary candidiasis in a patient with diabetes mellitus: A rare case report

    OpenAIRE

    Hakamifard, Atousa; Khorvash, Farzin; Raisi, Arash

    2016-01-01

    Fungal infections are as a cause of morbidity and mortality in immunocompromise patients. Because the respiratory tract is colonized with Candida, the presence of this agent in respiratory specimens makes the diagnosis of Candida pneumonia problematic. Candida pneumonia is a rare infection, and the majority of cases are secondary to hematogenous dissemination. Furthermore isolated Candida pneumonia originating from endotracheal inoculation is an extremely rare entity. We describe a case of is...

  12. Penile Duplication and Two Anal Openings; Report of a Very Rare Case

    OpenAIRE

    Bakheet, Mohamed Abdel Al M.; Refaei, Mohammad

    2012-01-01

    Background Penile duplication (diphallus) is an extremely rare disorder. It is almost always associated with other malformations like double bladder, exstrophy of the cloacae, imperforate anus, duplication of the rectosigmoid and vertebral deformities. Meanwhile anal canal duplication, the most distal and least common duplication of the digestive tube and is a very rare congenital malformation. Case Presentation A 21 days old Egyptian neonate is reported with complete penile duplication and t...

  13. A Rare Case: Struma Ovarii in a 14-Year-Old Girl.

    Science.gov (United States)

    Iltar, Elif; Ureyen, Isin; Toptas, Tayfun; Savas, Melike; Çekiç, Sema; Uysal, Aysel

    2018-02-01

    Ovarian tumors presented with ovarian mass in childhood and adolescence are uncommon but an important part of gynecological cases. Struma ovarii is one of the rare cystic benign ovarian tumors that is observed predominantly in women who are between the ages of 40 and 60 years old. It is extremely rare in adolescents. Herein, we present a 14-year-old adolescent girl with struma ovarii who presented to the emergency room with abdominal pain.

  14. Rare earths as a future resource

    International Nuclear Information System (INIS)

    Cornell, D.H.

    1988-01-01

    The fourteen rare earth or lanthanide elements have recently emerged as an important natural resource because of the rapidly growing demand in the electronic, chemical and metallurgical industries. The Symposium on rare earth elements as a future resource presented a multidisciplinary review of rare earth chemistry, geology, beneficiation, industrial applications and marketing. Papers by experts in many fields were presented on the following topics: chemical properties of the rare earth elements; the analysis of rare earth elements and minerals; beneficiation and extraction of rare earth elements; economic geochemistry and mineralogy of rare earths; present industrial uses of rare earth elements; the role of rare earth elements in high-temperature superconductors; the technical application of high-temperature superconductors; supply and demand for rare earth products - now and in the future, and the geology of rare earth deposits

  15. Extreme event statistics in a drifting Markov chain

    Science.gov (United States)

    Kindermann, Farina; Hohmann, Michael; Lausch, Tobias; Mayer, Daniel; Schmidt, Felix; Widera, Artur

    2017-07-01

    We analyze extreme event statistics of experimentally realized Markov chains with various drifts. Our Markov chains are individual trajectories of a single atom diffusing in a one-dimensional periodic potential. Based on more than 500 individual atomic traces we verify the applicability of the Sparre Andersen theorem to our system despite the presence of a drift. We present detailed analysis of four different rare-event statistics for our system: the distributions of extreme values, of record values, of extreme value occurrence in the chain, and of the number of records in the chain. We observe that, for our data, the shape of the extreme event distributions is dominated by the underlying exponential distance distribution extracted from the atomic traces. Furthermore, we find that even small drifts influence the statistics of extreme events and record values, which is supported by numerical simulations, and we identify cases in which the drift can be determined without information about the underlying random variable distributions. Our results facilitate the use of extreme event statistics as a signal for small drifts in correlated trajectories.

  16. Management of the mangled extremity

    NARCIS (Netherlands)

    Prasarn, Mark L.; Helfet, David L.; Kloen, Peter

    2012-01-01

    The management of a mangled extremity continues to be a matter of debate. With modern advances in trauma resuscitation, microvascular tissue transfer, and fracture fixation, severe traumatic extremity injuries that would historically have been amputated are often salvaged. Even if preserving a

  17. A decade of weather extremes

    NARCIS (Netherlands)

    Coumou, Dim; Rahmstorf, Stefan

    The ostensibly large number of recent extreme weather events has triggered intensive discussions, both in- and outside the scientific community, on whether they are related to global warming. Here, we review the evidence and argue that for some types of extreme - notably heatwaves, but also

  18. Attitude extremity, consensus and diagnosticity

    NARCIS (Netherlands)

    van der Pligt, J.; Ester, P.; van der Linden, J.

    1983-01-01

    Studied the effects of attitude extremity on perceived consensus and willingness to ascribe trait terms to others with either pro- or antinuclear attitudes. 611 Ss rated their attitudes toward nuclear energy on a 5-point scale. Results show that attitude extremity affected consensus estimates. Trait

  19. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  20. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  1. Spontaneous Superior Mesenteric Artery Branch Pseudoaneurysm: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Mina Guirgis

    Full Text Available : Background: Visceral arterial pseudoaneurysms (VAPAs are rare vascular entities with serious consequences. Traditionally, they are associated with trauma, infection, and inflammatory disease, or they can arise as a post-operative complication. Report: An 87 year old man presented with abdominal pain and was found to have a spontaneous VAPA on a computed tomography angiogram. Serial imaging 4 months previously had demonstrated no aneurysm. Between scans, warfarin was changed to apixaban for aortic valve replacement, but he had no other changes to any other medications. He required urgent endovascular coiling of the pseudoaneurysm, with satisfactory recovery and outcome. Discussion: VAPAs are extremely rare, with splenic artery VAPAs the most commonly reported. Regardless, fewer than 250 cases of splenic artery pseudoaneurysm have been reported. Superior mesenteric artery (SMA pseudoaneurysms are the rarest type of VAPAs. Early identification and urgent treatment are warranted because of the associated high mortality risk, with a 50% risk of rupture in any given VAPA. Treatment options range from open operation to endoscopic and endovascular procedures. Apixaban has been proposed to contribute to pseudoaneurysm formation by slow and continuous bleeding that results in the formation of the pseudoaneurysm. Conclusions: Spontaneous VAPAs are extremely rare and this is the first time a VAPA has been associated with the novel oral anticoagulant “apixaban”. Urgent management of any VAPAs is important because of the high risk of rupture and potential life threatening haemorrhage. Keywords: Visceral arterial pseudoaneurysm, Superior mesenteric artery, Apixaban, Coils

  2. Synovial Sarcoma-A Rare Tumor of the Larynx

    Directory of Open Access Journals (Sweden)

    Ghodrat Mohammadi

    2016-05-01

    Full Text Available Introduction: Malignant mesenchymal tumors of the larynx are rare. One type of malignant mesenchymal tumor is synovial sarcoma with unknown histogenesis, which occurs predominantly in the lower extremities of young adults. The head and neck region is a relatively rare location. There are few cases of malignant mesenchymal tumors with laryngeal localization in literature.  Case Report: In this report, a new case in a 23-year-old man, which was referred with increasing hoarseness for eight months, and dysphagia, odynophagia, and dyspnea since nearly one year ago, is reported. Indirect laryngoscopy revealed a laryngeal submucosal mass. The patient was operated and the histopathological diagnosis of synovial sarcoma was confirmed by IHC (Immunohistochemisry.  Conclusion:  Synovial sarcoma occurs predominantly in the lower extremities of young adults. Because very few cases of laryngeal synovial sarcoma are reported, every new case will bring some new information about diagnosis and therapy. It is of utmost importance to get to know new aspects and therapeutical modalities of this rare tumor.

  3. Rare pion and kaon decays

    International Nuclear Information System (INIS)

    Bryman, D.

    1983-09-01

    Some rare pion and kaon decays, which provide clues to the generation puzzle, are discussed. The π→ eν/π→μ/ν branching ratio test of universality and the status of searches for K + → π + rho anti rho are reviewed

  4. Cardiofaciocutaneous syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    S Pavithra

    2012-01-01

    Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

  5. Rare Animal Education Usingaugmented Reality

    Directory of Open Access Journals (Sweden)

    Hening Artdias

    2018-01-01

    They are extinction because destruction of forest habitats, a conflict between humans and animals, trade, hunting, the arrests beyond capacity. [1]. Is that the issue of the extinction of the animals is dominated by human behavior and nature of the wrath of them. For that, education game “Rare Animal” become formulations to raise awareness of endangered species.

  6. Rare localisations of osteochondrosis juvenilis

    Energy Technology Data Exchange (ETDEWEB)

    Schumacher, R; Schuster, W; Mueller, U

    1981-04-01

    A survey of rare localisations of osteochondrosis juvenilis is given and illustrated by cases of Morbus Friedrich, Morbus Panner, Vertebra plana Calve, Morbus Blount, Morbus Iselin, Morbus Hegemann and Morbus Thiemann. This is followed by discussion of etiology and differential diagnosis.

  7. Rare diseases and orphan drugs

    Directory of Open Access Journals (Sweden)

    Domenica Taruscio

    2011-01-01

    Full Text Available According to the Regulation (EC N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be considered rare if taken individually but they affect a significant proportion of the European population when considered as a single group. Several initiatives have been undertaken at international, European and national level to tackle public health as well as research issues related to the prevention, diagnosis, treatment and surveillance of these diseases. The development of innovative and effective medical products for their diagnosis and treatment is frequently hampered by several factors, including the limited knowledge of their natural history, the difficulties in setting up clinical studies due to the limited numbers of patients affected by a specific disease, the weak interest of sponsors due to the restricted market opportunities. Therefore, incentives and other facilitations have been adopted in many parts of the world, including in the EU, in order to facilitate the development and commercialization of diagnostic tools and treatments devoted to rare diseases. This paper illustrates mainly the European initiatives and will discuss the problematic and controversial aspects surrounding orphan drugs. Finally, activities and measures adopted in Italy are presented.

  8. Earth's portfolio of extreme sediment transport events

    Science.gov (United States)

    Korup, Oliver

    2012-05-01

    Quantitative estimates of sediment flux and the global cycling of sediments from hillslopes to rivers, estuaries, deltas, continental shelves, and deep-sea basins have a long research tradition. In this context, extremely large and commensurately rare sediment transport events have so far eluded a systematic analysis. To start filling this knowledge gap I review some of the highest reported sediment yields in mountain rivers impacted by volcanic eruptions, earthquake- and storm-triggered landslide episodes, and catastrophic dam breaks. Extreme specific yields, defined here as those exceeding the 95th percentile of compiled data, are ~ 104 t km- 2 yr- 1 if averaged over 1 yr. These extreme yields vary by eight orders of magnitude, but systematically decay with reference intervals from minutes to millennia such that yields vary by three orders of magnitude for a given reference interval. Sediment delivery from natural dam breaks and pyroclastic eruptions dominate these yields for a given reference interval. Even if averaged over 102-103 yr, the contribution of individual disturbances may remain elevated above corresponding catchment denudation rates. I further estimate rates of sediment (re-)mobilisation by individual giant terrestrial and submarine mass movements. Less than 50 postglacial submarine mass movements have involved an equivalent of ~ 10% of the contemporary annual global flux of fluvial sediment to Earth's oceans, while mobilisation rates by individual events rival the decadal-scale sediment discharge from tectonically active orogens such as Taiwan or New Zealand. Sediment flushing associated with catastrophic natural dam breaks is non-stationary and shows a distinct kink at the last glacial-interglacial transition, owing to the drainage of very large late Pleistocene ice-marginal lakes. Besides emphasising the contribution of high-magnitude and low-frequency events to the global sediment cascade, these findings stress the importance of sediment storage

  9. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  10. Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature

    Directory of Open Access Journals (Sweden)

    Nozières Cécile

    2011-10-01

    Full Text Available Abstract Background Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH, is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1; Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP. We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms. Methods Seven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1 levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume. Results Patients were aged 5-17 years and the majority (n = 6 were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2; the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3. Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1, whereas two of the three patients with sporadic somatotropinoma required only one type of therapy. Conclusions This is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore

  11. Collaborative research efforts and related activities of the Office of Rare Diseases Research at the USA National Institutes of Health

    Directory of Open Access Journals (Sweden)

    Stephen C. Groft

    2009-12-01

    Full Text Available

    Introduction: Rare diseases present unique challenges to meet the numerous and varied needs of the rare diseases community and it is required to identify and address these needs. Significant financial and personnel resources are required to address these needs identified. The Office of Rare Diseases Research (ORDR at the USA National Institutes of Health (NIH has attempted to meet many of these needs in collaborative efforts with the research Institutes and Centers of NIH and other partners in the private and public sectors in the USA and around the world. Several of the activities of the NIH and the ORDR are presented as possible collaborative efforts available to research investigators and include the Rare Diseases Clinical Research Network, the Bench-to-Bedside research program at NIH, the Genetic and Rare Diseases Information center, the genetic test development program, and the information on clinical research studies made available through Clinical trials.gov. The value of an appropriate family medical history is discussed as are the provisions of the Genetic Information Non-Discrimination Act of 2008 (GINA. Definitions of rare or orphan diseases vary from country to country and may cause some confusion to the rare diseases community.

    Conclusions: Rare diseases are not limited by geographical or historical boundaries and global partnerships of the rare diseases community are experiencing rapid expansion to assist in the development of orphan products for the prevention, diagnosis and treatment of rare diseases and conditions. The unmet needs of the rare diseases community require additional innovative research and educational programs to reach the extensive global populations affected by the thousands of different rare diseases including activities with the National Organization for Rare Disorders and the Genetic Alliance.

  12. Long-Term Climate Trends and Extreme Events in Northern Fennoscandia (1914–2013

    Directory of Open Access Journals (Sweden)

    Sonja Kivinen

    2017-02-01

    Full Text Available We studied climate trends and the occurrence of rare and extreme temperature and precipitation events in northern Fennoscandia in 1914–2013. Weather data were derived from nine observation stations located in Finland, Norway, Sweden and Russia. The results showed that spring and autumn temperatures and to a lesser extent summer temperatures increased significantly in the study region, the observed changes being the greatest for daily minimum temperatures. The number of frost days declined both in spring and autumn. Rarely cold winter, spring, summer and autumn seasons had a low occurrence and rarely warm spring and autumn seasons a high occurrence during the last 20-year interval (1994–2013, compared to the other 20-year intervals. That period was also characterized by a low number of days with extremely low temperature in all seasons (4–9% of all extremely cold days and a high number of April and October days with extremely high temperature (36–42% of all extremely warm days. A tendency of exceptionally high daily precipitation sums to grow even higher towards the end of the study period was also observed. To summarize, the results indicate a shortening of the cold season in northern Fennoscandia. Furthermore, the results suggest significant declines in extremely cold climate events in all seasons and increases in extremely warm climate events particularly in spring and autumn seasons.

  13. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics....... The advent of new genotyping technologies has made it possible to sequence in great detail the human genome for asthma-associated variants, and accordingly, recent decades have witnessed an explosion in the number of rare and common variants associated with disease risk. This review presents an overview...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....

  14. Rare and semi-rare decays at ATLAS

    CERN Document Server

    AUTHOR|(INSPIRE)INSPIRE-00213194; The ATLAS collaboration

    2016-01-01

    The measurements of the rare $B^0$-meson-decay processes performed by the ATLAS experiment at the LHC are reviewed. Particular attention will be given to the measurement of the branching ratio of the $B^0_s$ and $B^0_d$ mesons decays into a pair of muons with the full Run 1 dataset corresponding to an integrated luminosity of 25 $\\rm{fb^{-1}}$.

  15. Rare events: a state of the art

    International Nuclear Information System (INIS)

    Uppuluri, V.R.R.

    1980-12-01

    The study of rare events has become increasingly important in the context of nuclear safety. Some philosophical considerations, such as the framework for the definition of a rare event, rare events and science, rare events and trans-science, and rare events and public perception, are discussed. The technical work of the Task Force on problems of Rare Events in the Reliability Analysis of Nuclear Plants (1976-1978), sponsored by OECD, is reviewed. Some recent technical considerations are discussed, and conclusions are drawn. The appendix contains an essay written by Anne E. Beachey, under the title: A Study of Rare Events - Problems and Promises

  16. Rare Earth Garnet Selective Emitter

    Science.gov (United States)

    Lowe, Roland A.; Chubb, Donald L.; Farmer, Serene C.; Good, Brian S.

    1994-01-01

    Thin film Ho-YAG and Er-YAG emitters with a platinum substrate exhibit high spectral emittance in the emission band (epsilon(sub lambda) approx. = 0.75, sup 4)|(sub 15/2) - (sup 4)|(sub 13/2),for Er-YAG and epsilon(sub lambda) approx. = 0.65, (sup 5)|(sub 7) - (sup 5)|(sub 8) for Ho-YAG) at 1500 K. In addition, low out-of-band spectral emittance, epsilon(sub lambda) less than 0.2, suggest these materials would be excellent candidates for high efficiency selective emitters in thermophotovoltaic (TPV) systems operating at moderate temperatures (1200-1500 K). Spectral emittance measurements of the thin films were made (1.2 less than lambda less than 3.0 microns) and compared to the theoretical emittances calculated using measured values of the spectral extinction coefficient. In this paper we present the results for a new class of rare earth ion selective emitters. These emitters are thin sections (less than 1 mm) of yttrium aluminum garnet (YAG) single crystal with a rare earth substitutional impurity. Selective emitters in the near IR are of special interest for thermophotovoltaic (TPV) energy conversion. The most promising solid selective emitters for use in a TPV system are rare earth oxides. Early spectral emittance work on rare earth oxides showed strong emission bands in the infrared (0.9 - 3 microns). However, the emittance outside the emission band was also significant and the efficiency of these emitters was low. Recent improvements in efficiency have been made with emitters fabricated from fine (5 - 10 microns) rare earth oxide fibers similar to the Welsbach mantle used in gas lanterns. However, the rare earth garnet emitters are more rugged than the mantle type emitters. A thin film selective emitter on a low emissivity substrate such as gold, platinum etc., is rugged and easily adapted to a wide variety of thermal sources. The garnet structure and its many subgroups have been successfully used as hosts for rare earth ions, introduced as substitutional

  17. Genetic predisposition and implications for radioprotection

    Energy Technology Data Exchange (ETDEWEB)

    Streffer, Christian [University Clinics, Essen, Essen (Germany)

    2000-05-01

    retinoblastoma who did not have a genetic predisposition. Mainly osteoblastoma and soft tissue sarcoma were observed in the former radiation field. From these date it must be concluded that such effects also occur in the low dose range. Individuals with the extreme radiosensitivity (dose modifying factor, DMG, of around 5) are rare, but there are individuals with a DMF of around 1.5 to 2 who are more frequent. Therefore it has to be discussed whether the individual variability of radiosensitivity must also be considered for radioprotection by special dose limits or other regulations. (author)

  18. Genetic predisposition and implications for radioprotection

    International Nuclear Information System (INIS)

    Streffer, Christian

    2000-01-01

    retinoblastoma who did not have a genetic predisposition. Mainly osteoblastoma and soft tissue sarcoma were observed in the former radiation field. From these date it must be concluded that such effects also occur in the low dose range. Individuals with the extreme radiosensitivity (dose modifying factor, DMG, of around 5) are rare, but there are individuals with a DMF of around 1.5 to 2 who are more frequent. Therefore it has to be discussed whether the individual variability of radiosensitivity must also be considered for radioprotection by special dose limits or other regulations. (author)

  19. Spatial dependence of extreme rainfall

    Science.gov (United States)

    Radi, Noor Fadhilah Ahmad; Zakaria, Roslinazairimah; Satari, Siti Zanariah; Azman, Muhammad Az-zuhri

    2017-05-01

    This study aims to model the spatial extreme daily rainfall process using the max-stable model. The max-stable model is used to capture the dependence structure of spatial properties of extreme rainfall. Three models from max-stable are considered namely Smith, Schlather and Brown-Resnick models. The methods are applied on 12 selected rainfall stations in Kelantan, Malaysia. Most of the extreme rainfall data occur during wet season from October to December of 1971 to 2012. This period is chosen to assure the available data is enough to satisfy the assumption of stationarity. The dependence parameters including the range and smoothness, are estimated using composite likelihood approach. Then, the bootstrap approach is applied to generate synthetic extreme rainfall data for all models using the estimated dependence parameters. The goodness of fit between the observed extreme rainfall and the synthetic data is assessed using the composite likelihood information criterion (CLIC). Results show that Schlather model is the best followed by Brown-Resnick and Smith models based on the smallest CLIC's value. Thus, the max-stable model is suitable to be used to model extreme rainfall in Kelantan. The study on spatial dependence in extreme rainfall modelling is important to reduce the uncertainties of the point estimates for the tail index. If the spatial dependency is estimated individually, the uncertainties will be large. Furthermore, in the case of joint return level is of interest, taking into accounts the spatial dependence properties will improve the estimation process.

  20. THE RARE CAUSE OF THE ANAPHYLAXIS: EXERCISE

    Directory of Open Access Journals (Sweden)

    Sami OZTURK

    2005-02-01

    Full Text Available Introduction: Exercise-induced anaphylaxis (EIA is a rare syndrome. We described two patients experienced anaphylaxis after exercise. Case 1: A 24 -year-old male patient, recruited to army as a private 6 months ago. The medical history was suggestive of an anaphylactic reaction which was developed about 30 minute after a vigorous exercise. Case 2: A 42-year old female, was referred to our clinic because of the recurrent episodes of generalized pruritus, nausea, vomiting, swelling on extremities and breathing difficultly. She was experienced with symptoms after moderate exercises which were performed to losing weight. Evaluation: The complete diagnostic procedures including skin tests with foods and inhalant allergens were performed. In Case 2, positive skin test results were detected in food allergens (apricot, tomato, vanilla and inhalant allergens (house-dust mites and cockroach. Management: In Case 1, he was first experienced EIA symptoms with the military training. For this reason, he exempted from vigorous exercises during his remaining compulsory military service and self-injectable epinephrine kit and antihistamine were prescribed him. In Case 2, she advised to avoid from vigorous exercises. Conclusion: EIA should be considered in cases of anaphylaxis with uncertain etiology. [TAF Prev Med Bull 2005; 4(1.000: 46-49