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Sample records for strict maternal inheritance

  1. Genetics Home Reference: maternally inherited diabetes and deafness

    Science.gov (United States)

    ... Home Health Conditions MIDD Maternally inherited diabetes and deafness Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Maternally inherited diabetes and deafness ( MIDD ) is a form of diabetes that is ...

  2. Paternal, maternal, and biparental inheritance of the chloroplast genome in Passiflora (Passifloraceae): implications for phylogenetic studies.

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    Hansen, A Katie; Escobar, Linda K; Gilbert, Lawrence E; Jansen, Robert K

    2007-01-01

    Patterns of inheritance of the chloroplast genome in Passiflora were analyzed by examining the progeny from both interspecific and intraspecific crosses. Artificial crosses of field-collected material were performed in greenhouses at The University of Texas at Austin. DNA from fresh leaf material was analyzed by Southern blot techniques to identify the donor of the chloroplast genome. Initially, single progeny were analyzed for 11 crosses; two intraspecific crosses demonstrated maternal inheritance, whereas the nine interspecific crosses had paternal inheritance. Subsequently, the donor of the chloroplast genome was determined for multiple progeny in seven crosses. Passiflora oerstedii × P. retipetala showed strict paternal inheritance in all of 17 progeny. A series of five crosses and backcrosses between P. oerstedii and P. menispermifolia demonstrated strictly paternal inheritance. Finally, when 15 progeny were analyzed for the P. costaricensis × P. costaricensis cross, 12 of the 15 showed maternal inheritance, whereas the remaining three were biparental. Interestingly, all interspecific crosses had primarily paternal inheritance, whereas all intraspecific crosses had primarily maternal inheritance. The implications of heteroplasmy on phylogenetic analyses of chloroplast DNA are discussed.

  3. Maternal inheritance of chloroplasts in the horsetail Equisetum variegatum (Schleich.).

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    Guillon, J M; Raquin, C

    2000-01-01

    Reliable data concerning the transmission of chloroplasts in the Pteridophyta are needed both for phylogenies based on chloroplast DNA (cpDNA) sequences and in order to study the evolution of this trait in conjunction with the evolution of the life cycle and the sexual reproduction of land plants. For the first time, this paper describes organelle transmission in the division Sphenophyta, represented by the extant genus Equisetum. By following the fate of polymorphic cpDNA during three intraspecific reciprocal crosses we found no trace of paternal transmission in Equisetum variegatum. The seemingly strict maternal transmission of cpDNA in this species suggests that uniparental chloroplast inheritance preceded the evolution of heterospory in the seed-plant lineage.

  4. Mitochondrial mutations in maternally inherited hearing loss.

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    Mutai, Hideki; Watabe, Takahisa; Kosaki, Kenjiro; Ogawa, Kaoru; Matsunaga, Tatsuo

    2017-03-20

    Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL. Sequencing of additional mtDNA regions was performed for five subjects meeting the clinical criteria, but the screening results were negative. Among the nine cases meeting the five clinical criteria detailed above, three had the m.1555A > G mutation in MTRNR1, one had a m.3243A > G mutation in MTTL1, and one case had a m.7511T > C mutation in MTTS1. In the family with the m.7511T > C mutation, penetrance of SNHL among maternally related subjects was 9/17 (53%). The age at onset varied from birth (congenital) to adulthood. Hearing levels varied from normal to moderately impaired, unlike previously reported subjects with this mutation, where some maternal family members presented with profound SNHL. Family members with the m.7511T > C mutation and SNHL did not exhibit any specific clinical characteristics distinct from those of other individuals with SNHL and different mtDNA mutations. Among the 136 probands who did not meet the criteria detailed above, one case had the m.1555A > G mutation, and three cases had the m.3243A > G mutation. Since five of nine probands with the clinical criteria used in this study had mtDNA mutations, these criteria may be helpful for identification of candidate patients likely to have mtDNA mutations.

  5. Maternal inheritance of plastids in Encephalartos Lehm. (Zamiaceae, Cycadales).

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    Cafasso, D; Cozzolino, S; Caputo, P; De Luca, P

    2001-04-01

    The mode of inheritance of chloroplast DNA has been determined in Encephalartos by employing a restriction fragment length polymorphism analysis of chloroplast DNA. Artificial F1 hybrids were produced between a female specimen of E. natalensis and a male specimen of E. woodii. The hybridization patterns of all hybrids correspond, in all cases, with that of E. natalensis, and are different from that of E. woodii, thus indicating the maternal inheritance of cpDNA in cycads.

  6. Temporary Strict Maternal Avoidance of Cow’s Milk and Infantile Colic

    Directory of Open Access Journals (Sweden)

    Firoozeh Sajedi

    2009-12-01

    Full Text Available Infant colic is a common problem characterized by excessive crying and fussing. We examined whether colic symptoms of exclusively breast-milk-fed infants would be improved by temporary strict maternal avoidance of cows milk. This study is analytic and experimental. Sixty-six subjects were recruited during winter of 2006 from a clinic in Isfahan, Iran. Breast-milk-fed in-fants with "colic", age 3-6 months and to be in otherwise good health were referred by pediatri-cians. The intervention was 1 week period of strict maternal avoidance of cows milk while they continued exclusive breast-milk-feeding. All infants showed improvement in distressed behavior (crying and fussing during intervention. The total recorded crying and fussing time was reduced by an average of 31%. A significant difference was found in cry and fuss time between first and last 2 days of intervention (P = 0.000. Cows milk proteins may play an etiologic role in colic. We propose that a brief intervention with strict maternal avoidance of cows milk may be an effective treatment for colic in some breast-milk-fed infants.

  7. Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

    DEFF Research Database (Denmark)

    Tommiska, Johanna; Känsäkoski, Johanna; Skibsbye, Lasse

    2017-01-01

    Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three...... associated with maternally inherited gingival fibromatosis is an allelic disorder with cardiac arrhythmia syndromes caused by KCNQ1 mutations....

  8. Assessing Clark's nutcracker seed-caching flights using maternally inherited mitochondrial DNA of whitebark pine

    Science.gov (United States)

    Bryce A. Richardson; Ned B. Klopfenstein; Steven J. Brunsfeld

    2002-01-01

    Maternally inherited mitochondrial DNA haplotypes in whitebark pine (Pinus albicaulis Engelm.) were used to examine the maternal genetic structure at three hierarchical spatial scales: fine scale, coarse scale, and interpopulation. These data were used to draw inferences into Clark’s nutcracker (Nucifraga columbiana Wilson)...

  9. Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    DEFF Research Database (Denmark)

    Rafiq, Jabin; Duno, Morten; Østergaard, Elsebet

    2016-01-01

    The most common clinical phenotype caused by a mtDNA mutation in complex I of the mitochondrial respiratory chain is Leber hereditary optic neuropathy. We report a family with a novel maternally inherited homoplasmic mtDNA m.4087A>G mutation in the ND1 gene (MT-ND1) associated with isolated myopa...

  10. Revisiting heritability accounting for shared environmental effects and maternal inheritance.

    Science.gov (United States)

    Liu, Chunyu; Dupuis, Josée; Larson, Martin G; Cupples, L Adrienne; Ordovas, Jose M; Vasan, Ramachandran S; Meigs, James B; Jacques, Paul F; Levy, Daniel

    2015-02-01

    Heritability measures the proportion of phenotypic variation attributable to genetic factors. In addition to a shared nuclear genetic component, a number of additional variance components, such as spousal correlation, sibship, household and maternal effects, may have strong contributions to inter-individual phenotype variation. In humans, the confounding effects of these components on heritability have not been studied thoroughly. We sought to obtain unbiased heritability estimates for complex traits in the presence of multiple variance components and also to estimate the contributions of these variance components to complex traits. We compared regression and variance component methods to estimate heritability in simulations when additional variance components existed. We then revisited heritability for several traits in Framingham Heart Study (FHS) participants. Using simulations, we found that failure to account for or misclassification of necessary variance components yielded biased heritability estimates. The direction and magnitude of the bias varied depending on a variance structure and an estimation method. Using the best fitted models to account for necessary variance components, we found that heritability estimates for most FHS traits were overestimated, ranging from 4 to 47 %, when we compared models that considered necessary variance components to models that only considered familial relationships. Spousal correlation explained 14-36 % of phenotypic variation in several anthropometric and lifestyle traits. Maternal and sibling effects also contributed to phenotypic variation, ranging from 3 to 5 % and 4 to 7 %, respectively, in several anthropometric and metabolic traits. Our findings may explain, in part, the missing heritability for some traits.

  11. CHORIOCAPILLARIS SIGNAL VOIDS IN MATERNALLY INHERITED DIABETES AND DEAFNESS AND IN PSEUDOXANTHOMA ELASTICUM.

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    Spaide, Richard F

    2017-11-01

    To evaluate the pattern of choriocapillaris signal voids in maternally inherited diabetes and deafness and in pseudoxanthoma elasticum in eyes before the development of any geographic atrophy. The choriocapillaris under the central macula was imaged with the Optovue RTVue XR Avanti using a 10 μm slab thickness. Automatic local thresholding of the resultant raw data extracted areas of absent flow signal, called signal voids, and these were counted and logarithmically binned. The signal void patterns were analyzed in four eyes of two patients with maternally inherited diabetes and deafness and four eyes of three patients with pseudoxanthoma elasticum. None of the patients had geographic atrophy. These data were compared with 55 eyes of 38 healthy control subjects and analyzed with generalized estimating equations. The choriocapillaris images in maternally inherited diabetes and deafness and pseudoxanthoma elasticum show that the model of signal voids followed a power law distribution, but with a slope and offset much lower than the normal control group, adjusted for age (P deafness and pseudoxanthoma elasticum show pronounced abnormalities of choriocapillaris flow. Current clinical measures of retinal pigment epithelial health only look for areas of cell death, as in geographic atrophy. It is not possible to determine from current imaging if the choriocapillaris loss precedes potential loss of function of the retinal pigment epithelium, such as secretion of vascular endothelial growth factor.

  12. Dormancy-specific imprinting underlies maternal inheritance of seed dormancy in Arabidopsis thaliana

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    Piskurewicz, Urszula; Iwasaki, Mayumi; Susaki, Daichi; Megies, Christian; Kinoshita, Tetsu; Lopez-Molina, Luis

    2016-01-01

    Mature seed dormancy is a vital plant trait that prevents germination out of season. In Arabidopsis, the trait can be maternally regulated but the underlying mechanisms sustaining this regulation, its general occurrence and its biological significance among accessions are poorly understood. Upon seed imbibition, the endosperm is essential to repress the germination of dormant seeds. Investigation of genomic imprinting in the mature seed endosperm led us to identify a novel set of imprinted genes that are expressed upon seed imbibition. Remarkably, programs of imprinted gene expression are adapted according to the dormancy status of the seed. We provide direct evidence that imprinted genes play a role in regulating germination processes and that preferential maternal allelic expression can implement maternal inheritance of seed dormancy levels. DOI: http://dx.doi.org/10.7554/eLife.19573.001 PMID:28005006

  13. Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

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    Agopian, A J; Mitchell, Laura E; Glessner, Joseph; Bhalla, Angela D; Sewda, Anshuman; Hakonarson, Hakon; Goldmuntz, Elizabeth

    2014-01-01

    Conotruncal and related heart defects (CTDs) are a group of serious and relatively common birth defects. Although both maternal and inherited genotypes are thought to play a role in the etiology of CTDs, few specific genetic risk factors have been identified. To determine whether common variants acting through the genotype of the mother (e.g. via an in utero effect) or the case are associated with CTDs, we conducted a genome-wide association study of 750 CTD case-parent triads, with follow-up analyses in 358 independent triads. Log-linear analyses were used to assess the association of CTDs with the genotypes of both the mother and case. No association achieved genomewide significance in either the discovery or combined (discovery+follow-up) samples. However, three loci with p-values suggestive of association (p<10-5) in the discovery sample had p-values <0.05 in the follow-up sample and p-values in the combined data that were lower than in the discovery sample. These included suggestive association with an inherited intergenic variant at 20p12.3 (rs6140038, combined p = 1.0 × 10(-5)) and an inherited intronic variant in KCNJ4 at 22q13.1 (rs2267386, combined p = 9.8 × 10(-6)), as well as with a maternal variant in SLC22A24 at 11q12.3 (rs11231379, combined p = 4.2 × 10(-6)). These observations suggest novel candidate loci for CTDs, including loci that appear to be associated with the risk of CTDs via the maternal genotype, but further studies are needed to confirm these associations.

  14. Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

    Directory of Open Access Journals (Sweden)

    A J Agopian

    Full Text Available Conotruncal and related heart defects (CTDs are a group of serious and relatively common birth defects. Although both maternal and inherited genotypes are thought to play a role in the etiology of CTDs, few specific genetic risk factors have been identified. To determine whether common variants acting through the genotype of the mother (e.g. via an in utero effect or the case are associated with CTDs, we conducted a genome-wide association study of 750 CTD case-parent triads, with follow-up analyses in 358 independent triads. Log-linear analyses were used to assess the association of CTDs with the genotypes of both the mother and case. No association achieved genomewide significance in either the discovery or combined (discovery+follow-up samples. However, three loci with p-values suggestive of association (p<10-5 in the discovery sample had p-values <0.05 in the follow-up sample and p-values in the combined data that were lower than in the discovery sample. These included suggestive association with an inherited intergenic variant at 20p12.3 (rs6140038, combined p = 1.0 × 10(-5 and an inherited intronic variant in KCNJ4 at 22q13.1 (rs2267386, combined p = 9.8 × 10(-6, as well as with a maternal variant in SLC22A24 at 11q12.3 (rs11231379, combined p = 4.2 × 10(-6. These observations suggest novel candidate loci for CTDs, including loci that appear to be associated with the risk of CTDs via the maternal genotype, but further studies are needed to confirm these associations.

  15. A non-inheritable maternal Cas9-based multiple-gene editing system in mice

    OpenAIRE

    Sakurai, Takayuki; Kamiyoshi, Akiko; Kawate, Hisaka; Mori, Chie; Watanabe, Satoshi; Tanaka, Megumu; Uetake, Ryuichi; Sato, Masahiro; Shindo, Takayuki

    2016-01-01

    The CRISPR/Cas9 system is capable of editing multiple genes through one-step zygote injection. The preexisting method is largely based on the co-injection of Cas9 DNA (or mRNA) and guide RNAs (gRNAs); however, it is unclear how many genes can be simultaneously edited by this method, and a reliable means to generate transgenic (Tg) animals with multiple gene editing has yet to be developed. Here, we employed non-inheritable maternal Cas9 (maCas9) protein derived from Tg mice with systemic Cas9...

  16. Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

    Science.gov (United States)

    Tommiska, Johanna; Känsäkoski, Johanna; Skibsbye, Lasse; Vaaralahti, Kirsi; Liu, Xiaonan; Lodge, Emily J; Tang, Chuyi; Yuan, Lei; Fagerholm, Rainer; Kanters, Jørgen K; Lahermo, Päivi; Kaunisto, Mari; Keski-Filppula, Riikka; Vuoristo, Sanna; Pulli, Kristiina; Ebeling, Tapani; Valanne, Leena; Sankila, Eeva-Marja; Kivirikko, Sirpa; Lääperi, Mitja; Casoni, Filippo; Giacobini, Paolo; Phan-Hug, Franziska; Buki, Tal; Tena-Sempere, Manuel; Pitteloud, Nelly; Veijola, Riitta; Lipsanen-Nyman, Marita; Kaunisto, Kari; Mollard, Patrice; Andoniadou, Cynthia L; Hirsch, Joel A; Varjosalo, Markku; Jespersen, Thomas; Raivio, Taneli

    2017-11-03

    Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes. Co-expressing KCNQ1 with the KCNE2 β-subunit shows that both KCNQ1 mutants increase current levels in patch clamp analyses and are associated with reduced pituitary hormone secretion from AtT-20 cells. In conclusion, our results reveal a role for the KCNQ1 potassium channel in the regulation of human growth, and show that growth hormone deficiency associated with maternally inherited gingival fibromatosis is an allelic disorder with cardiac arrhythmia syndromes caused by KCNQ1 mutations.

  17. Reduction in maternal Polycomb levels contributes to transgenerational inheritance of a response to toxic stress in flies.

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    Stern, Shay; Snir, Orli; Mizrachi, Eran; Galili, Matana; Zaltsman, Inbal; Soen, Yoav

    2014-06-01

    Transgenerational persistence of parental responses to environmental stimuli has been reported in various organisms, but the underlying mechanisms remain underexplored. In one of these reported examples, we have shown that exposure of fly larvae to G418 antibiotic leads to non-Mendelian inheritance of ectopic induction of certain developmental genes. Here we investigate if this inheritance involves changes in mRNA composition within the early, maternal-stage offspring embryos of exposed flies. Exposure to G418 in F1 modified the maternal RNA levels of many genes in their early (F2) embryos. This includes reduction of maternal Polycomb group genes which persisted in the following generation of embryos (F3). To investigate the functional meaning of this reduction, we compared genetically normal embryos of Polycomb mutant females to normal embryos of normal females. Analysis with two different alleles of Polycomb, Pc1 and Pc3, revealed that maternal reduction in Polycomb gene dosage has a positive influence on the inheritance of induced expression. Together, this shows that exposure to G418 stress reduces the maternal levels of Polycomb in the offspring embryos and this reduction contributes to the inheritance of induced expression. © 2014 The Authors. The Journal of Physiology © 2014 The Physiological Society.

  18. Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

    DEFF Research Database (Denmark)

    Tommiska, Johanna; Känsäkoski, Johanna; Skibsbye, Lasse

    2017-01-01

    unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes. Co-expressing KCNQ1 with the KCNE2 β......-subunit shows that both KCNQ1 mutants increase current levels in patch clamp analyses and are associated with reduced pituitary hormone secretion from AtT-20 cells. In conclusion, our results reveal a role for the KCNQ1 potassium channel in the regulation of human growth, and show that growth hormone deficiency...... associated with maternally inherited gingival fibromatosis is an allelic disorder with cardiac arrhythmia syndromes caused by KCNQ1 mutations....

  19. A non-inheritable maternal Cas9-based multiple-gene editing system in mice.

    Science.gov (United States)

    Sakurai, Takayuki; Kamiyoshi, Akiko; Kawate, Hisaka; Mori, Chie; Watanabe, Satoshi; Tanaka, Megumu; Uetake, Ryuichi; Sato, Masahiro; Shindo, Takayuki

    2016-01-28

    The CRISPR/Cas9 system is capable of editing multiple genes through one-step zygote injection. The preexisting method is largely based on the co-injection of Cas9 DNA (or mRNA) and guide RNAs (gRNAs); however, it is unclear how many genes can be simultaneously edited by this method, and a reliable means to generate transgenic (Tg) animals with multiple gene editing has yet to be developed. Here, we employed non-inheritable maternal Cas9 (maCas9) protein derived from Tg mice with systemic Cas9 overexpression (Cas9 mice). The maCas9 protein in zygotes derived from mating or in vitro fertilization of Tg/+ oocytes and +/+ sperm could successfully edit the target genome. The efficiency of such maCas9-based genome editing was comparable to that of zygote microinjection-based genome editing widely used at present. Furthermore, we demonstrated a novel approach to create "Cas9 transgene-free" gene-modified mice using non-Tg (+/+) zygotes carrying maCas9. The maCas9 protein in mouse zygotes edited nine target loci simultaneously after injection with nine different gRNAs alone. Cas9 mouse-derived zygotes have the potential to facilitate the creation of genetically modified animals carrying the Cas9 transgene, enabling repeatable genome engineering and the production of Cas9 transgene-free mice.

  20. A non-inheritable maternal Cas9-based multiple-gene editing system in mice

    Science.gov (United States)

    Sakurai, Takayuki; Kamiyoshi, Akiko; Kawate, Hisaka; Mori, Chie; Watanabe, Satoshi; Tanaka, Megumu; Uetake, Ryuichi; Sato, Masahiro; Shindo, Takayuki

    2016-01-01

    The CRISPR/Cas9 system is capable of editing multiple genes through one-step zygote injection. The preexisting method is largely based on the co-injection of Cas9 DNA (or mRNA) and guide RNAs (gRNAs); however, it is unclear how many genes can be simultaneously edited by this method, and a reliable means to generate transgenic (Tg) animals with multiple gene editing has yet to be developed. Here, we employed non-inheritable maternal Cas9 (maCas9) protein derived from Tg mice with systemic Cas9 overexpression (Cas9 mice). The maCas9 protein in zygotes derived from mating or in vitro fertilization of Tg/+ oocytes and +/+ sperm could successfully edit the target genome. The efficiency of such maCas9-based genome editing was comparable to that of zygote microinjection–based genome editing widely used at present. Furthermore, we demonstrated a novel approach to create “Cas9 transgene-free” gene-modified mice using non-Tg (+/+) zygotes carrying maCas9. The maCas9 protein in mouse zygotes edited nine target loci simultaneously after injection with nine different gRNAs alone. Cas9 mouse-derived zygotes have the potential to facilitate the creation of genetically modified animals carrying the Cas9 transgene, enabling repeatable genome engineering and the production of Cas9 transgene-free mice. PMID:26817415

  1. Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.

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    Higashimoto, T; Baldwin, E E; Gold, J I; Boles, R G

    2008-05-01

    Complex regional pain syndrome type I (CRPS-I), previously known as reflex sympathetic dystrophy (RSD), is an idiopathic condition characterised by localised, abnormally intense and prolonged pain, allodynia and autonomic nervous system changes (ie, swelling, skin colour and temperature changes and altered perspiration) that usually appear following a "noxious" trigger such as trauma or surgery. The objective of this report is to demonstrate that children with CRPS-I can have additional dysautonomic conditions secondary to an underlying maternally inherited mitochondrial disease, an association not previously published. Medical records of about 500 patients seen by one paediatric metabolic geneticist were reviewed to identify children meeting established CRPS diagnostic criteria. CRPS-I was present in eight children in seven families, each of which also had additional functional/dysautonomic conditions, the most common (> or = 4 cases per condition) being gastrointestinal dysmotility, migraine, cyclic vomiting and chronic fatigue. All seven probands studied met Nijmegen (2002) diagnostic criteria for definite mitochondrial disease on the basis of the clinical signs and symptoms and biochemical analyses. Six of the seven families met our pedigree-based criteria for probable maternal inheritance. In one tertiary-care paediatric genetics practice, children meeting the CRPS-I diagnostic criteria frequently had additional autonomic-related conditions secondary to maternally inherited mitochondrial disease, suggesting that mitochondrial DNA sequence variants can predispose children towards the development of CRPS-I and other dysautonomias. CRPS-I should be considered in patients with mitochondrial disease who complain of idiopathic pain. Maternally inherited mitochondrial disease may not be a rare cause of CRPS-I, especially in children who present with other manifestations of dysautonomia.

  2. Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.

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    Jorge Esparza-Gordillo

    2015-03-01

    Full Text Available Epidemiological studies suggest that allergy risk is preferentially transmitted through mothers. This can be due to genomic imprinting, where the phenotype effect of an allele depends on its parental origin, or due to maternal effects reflecting the maternal genome's influence on the child during prenatal development. Loss-of-function mutations in the filaggrin gene (FLG cause skin barrier deficiency and strongly predispose to atopic dermatitis (AD. We investigated the 4 most prevalent European FLG mutations (c.2282del4, p.R501X, p.R2447X, and p.S3247X in two samples including 759 and 450 AD families. We used the multinomial and maximum-likelihood approach implemented in the PREMIM/EMIM tool to model parent-of-origin effects. Beyond the known role of FLG inheritance in AD (R1meta-analysis = 2.4, P = 1.0 x 10-36, we observed a strong maternal FLG genotype effect that was consistent in both independent family sets and for all 4 mutations analysed. Overall, children of FLG-carrier mothers had a 1.5-fold increased AD risk (S1 = 1.50, Pmeta-analysis = 8.4 x 10-8. Our data point to two independent and additive effects of FLG mutations: i carrying a mutation and ii having a mutation carrier mother. The maternal genotype effect was independent of mutation inheritance and can be seen as a non-genetic transmission of a genetic effect. The FLG maternal effect was observed only when mothers had allergic sensitization (elevated allergen-specific IgE antibody plasma levels, suggesting that FLG mutation-induced systemic immune responses in the mother may influence AD risk in the child. Notably, the maternal effect reported here was stronger than most common genetic risk factors for AD recently identified through genome-wide association studies (GWAS. Our study highlights the power of family-based studies in the identification of new etiological mechanisms and reveals, for the first time, a direct influence of the maternal genotype on the offspring

  3. MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models

    OpenAIRE

    Mitchell Laura E; Agopian AJ

    2011-01-01

    Abstract Background Several platforms for the analysis of genome-wide association data are available. However, these platforms focus on the evaluation of the genotype inherited by affected (i.e. case) individuals, whereas for some conditions (e.g. birth defects) the genotype of the mothers of affected individuals may also contribute to risk. For such conditions, it is critical to evaluate associations with both the maternal and the inherited (i.e. case) genotype. When genotype data are availa...

  4. Evidence for maternally inherited factors favouring male homosexuality and promoting female fecundity.

    OpenAIRE

    Camperio-Ciani, Andrea; Corna, Francesca; Capiluppi, Claudio

    2004-01-01

    The Darwinian paradox of male homosexuality in humans is examined, i.e. if male homosexuality has a genetic component and homosexuals reproduce less than heterosexuals, then why is this trait maintained in the population? In a sample of 98 homosexual and 100 heterosexual men and their relatives (a total of over 4600 individuals), we found that female maternal relatives of homosexuals have higher fecundity than female maternal relatives of heterosexuals and that this difference is not found in...

  5. Evidence for maternally inherited factors favouring male homosexuality and promoting female fecundity.

    Science.gov (United States)

    Camperio-Ciani, Andrea; Corna, Francesca; Capiluppi, Claudio

    2004-11-07

    The Darwinian paradox of male homosexuality in humans is examined, i.e. if male homosexuality has a genetic component and homosexuals reproduce less than heterosexuals, then why is this trait maintained in the population? In a sample of 98 homosexual and 100 heterosexual men and their relatives (a total of over 4600 individuals), we found that female maternal relatives of homosexuals have higher fecundity than female maternal relatives of heterosexuals and that this difference is not found in female paternal relatives. The study confirms previous reports, in particular that homosexuals have more maternal than paternal male homosexual relatives, that homosexual males are more often later-born than first-born and that they have more older brothers than older sisters. We discuss the findings and their implications for current research on male homosexuality.

  6. MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models

    Directory of Open Access Journals (Sweden)

    Mitchell Laura E

    2011-04-01

    Full Text Available Abstract Background Several platforms for the analysis of genome-wide association data are available. However, these platforms focus on the evaluation of the genotype inherited by affected (i.e. case individuals, whereas for some conditions (e.g. birth defects the genotype of the mothers of affected individuals may also contribute to risk. For such conditions, it is critical to evaluate associations with both the maternal and the inherited (i.e. case genotype. When genotype data are available for case-parent triads, a likelihood-based approach using log-linear modeling can be used to assess both the maternal and inherited genotypes. However, available software packages for log-linear analyses are not well suited to the analysis of typical genome-wide association data (e.g. including missing data. Results An integrated platform, Maternal and Inherited Analyses for Genome-wide Association Studies (MI-GWAS for log-linear analyses of maternal and inherited genetic effects in large, genome-wide datasets, is described. MI-GWAS uses SAS and LEM software in combination to appropriately format data, perform the log-linear analyses and summarize the results. This platform was evaluated using existing genome-wide data and was shown to perform accurately and relatively efficiently. Conclusions The MI-GWAS platform provides a valuable tool for the analysis of association of a phenotype or condition with maternal and inherited genotypes using genome-wide data from case-parent triads. The source code for this platform is freely available at http://www.sph.uth.tmc.edu/sbrr/mi-gwas.htm.

  7. Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.

    Science.gov (United States)

    Mitchell, Laura E; Agopian, A J; Bhalla, Angela; Glessner, Joseph T; Kim, Cecilia E; Swartz, Michael D; Hakonarson, Hakon; Goldmuntz, Elizabeth

    2015-01-01

    Congenital left-sided lesions (LSLs) are serious, heritable malformations of the heart. However, little is known about the genetic causes of LSLs. This study was undertaken to identify common variants acting through the genotype of the affected individual (i.e. case) or the mother (e.g. via an in utero effect) that influence the risk of LSLs. A genome-wide association study (GWAS) was performed using data from 377 LSL case-parent triads, with follow-up studies in an independent sample of 224 triads and analysis of the combined data. Associations with both the case and maternal genotypes were assessed using log-linear analyses under an additive model. An association between LSLs and the case genotype for one intergenic SNP on chromosome 16 achieved genome-wide significance in the combined data (rs8061121, combined P = 4.0 × 10(-9); relative risk to heterozygote: 2.6, 95% CI: 1.9-3.7). In the combined data, there was also suggestive evidence of association between LSLs and the case genotype for a variant in the synaptoporin gene (rs1975649, combined P = 3.4 × 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0) and between LSLs and the maternal genotype for an intergenic SNP on chromosome 10 (rs11008222, combined P = 6.3 × 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0). This is the first GWAS of LSLs to evaluate associations with both the case and maternal genotypes. The results of this study identify three candidate LSL susceptibility loci, including one that appears to be associated with the risk of LSLs via the maternal genotype. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  8. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.

    Science.gov (United States)

    Ververi, Athina; Islam, Lily; Bewes, Beverley; Busby, Louise; Sullivan, Caroline; Canham, Natalie

    2017-01-01

    Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his affected first cousin and unaffected maternal grandfather, mother, and aunt, confirming the silencing of the paternal allele. The patient had developmental delay, speech impairment, a happy demeanour, microcephaly, and an abnormal EEG, but no seizures by the age of 4 years. Delineation of the underlying genetic mechanism is of utmost importance for reasons of genetic counselling, as well as appropriate management and prognosis. Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism. © 2017 S. Karger AG, Basel.

  9. A bacterium targets maternally inherited centrosomes to kill males in Nasonia.

    Science.gov (United States)

    Ferree, Patrick M; Avery, Amanda; Azpurua, Jorge; Wilkes, Timothy; Werren, John H

    2008-09-23

    Male killing is caused by diverse microbial taxa in a wide range of arthropods. This phenomenon poses important challenges to understanding the dynamics of sex ratios and host-pathogen interactions. However, the mechanisms of male killing are largely unknown. Evidence from one case in Drosophila suggests that bacteria can target components of the male-specific sex-determination pathway. Here, we investigated male killing by the bacterium Arsenophonus nasoniae in the haplo-diploid wasp Nasonia vitripennis, in which females develop as diploids from fertilized eggs and males develop parthenogenetically as haploids from unfertilized eggs. We found that Arsenophonus inhibits the formation of maternal centrosomes, organelles required specifically for early male embryonic development, resulting in unorganized mitotic spindles and developmental arrest well before the establishment of somatic sexual identity. Consistent with these results, rescue of Arsenophonus-induced male lethality was achieved by fertilization with sperm bearing the supernumerary chromosome paternal sex ratio (PSR), which destroys the paternal genome but bypasses the need for maternal centrosomes by allowing transmission of the sperm-derived centrosome into the egg. These findings reveal a novel mechanism of male killing in Nasonia, demonstrating that bacteria have evolved different mechanisms for inducing male killing in the Arthropods.

  10. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.

    Science.gov (United States)

    Garcia-Heras, Jaime; Martin, Judith

    2002-05-01

    A rec(4) dup 4p inherited from a maternal inv(4)(p15q35) was detected in a four-year-old girl with malformations, developmental delay, and behavioral problems that resemble those for trisomy 4p. A review of eight other liveborns with rec(4) dup 4p shows that about 40% of them also have manifestations in common with trisomy 4p, but the rest have a variable spectrum of malformations. Overall, the rec(4) dup 4p phenotype is not specific, and a diagnosis would not have been feasible without cytogenetic studies. This lack of a clinically recognizable phenotype could reflect the effects of the variable sizes of deletions of 4q, molecular differences in the break points, or the known variable expression of trisomy 4p. The fact that 79% of the recombinants in the offspring of inv(4)(p13-p15q35) carriers are rec(4) dup 4p suggests that meiotic recombination favors its generation or that rec(4) dup 4q are more lethal in utero. Copyright 2002 Wiley-Liss, Inc.

  11. Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.

    Science.gov (United States)

    Isidor, Bertrand; Lefebvre, Tiphaine; Barbarot, Sébastien; Perrier, Julie; Mercier, Sandra; Péréon, Yann; Le Caignec, Cédric; David, Albert

    2013-06-01

    In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance. Copyright © 2013 Wiley Periodicals, Inc.

  12. Strict confluent drawing

    Directory of Open Access Journals (Sweden)

    David Eppstein

    2016-01-01

    Full Text Available We define strict confluent drawing, a form of confluent drawing in which the existence of an edge is indicated by the presence of a smooth path through a system of arcs and junctions (without crossings, and in which such a path, if it exists, must be unique. We prove that it is NP-complete to determine whether a given graph has a strict confluent drawing but polynomial to determine whether it has an outerplanar strict confluent drawing with a fixed vertex ordering (a drawing within a disk, with the vertices placed in a given order on the boundary.

  13. CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to Igf2

    Science.gov (United States)

    Kurukuti, Sreenivasulu; Tiwari, Vijay Kumar; Tavoosidana, Gholamreza; Pugacheva, Elena; Murrell, Adele; Zhao, Zhihu; Lobanenkov, Victor; Reik, Wolf; Ohlsson, Rolf

    2006-01-01

    It is thought that the H19 imprinting control region (ICR) directs the silencing of the maternally inherited Igf2 allele through a CTCF-dependent chromatin insulator. The ICR has been shown to interact physically with a silencer region in Igf2, differentially methylated region (DMR)1, but the role of CTCF in this chromatin loop and whether it restricts the physical access of distal enhancers to Igf2 is not known. We performed systematic chromosome conformation capture analyses in the Igf2/H19 region over >160 kb, identifying sequences that interact physically with the distal enhancers and the ICR. We found that, on the paternal chromosome, enhancers interact with the Igf2 promoters but that, on the maternal allele, this is prevented by CTCF binding within the H19 ICR. CTCF binding in the maternal ICR regulates its interaction with matrix attachment region (MAR)3 and DMR1 at Igf2, thus forming a tight loop around the maternal Igf2 locus, which may contribute to its silencing. Mutation of CTCF binding sites in the H19 ICR leads to loss of CTCF binding and de novo methylation of a CTCF target site within Igf2 DMR1, showing that CTCF can coordinate regional epigenetic marks. This systematic chromosome conformation capture analysis of an imprinting cluster reveals that CTCF has a critical role in the epigenetic regulation of higher-order chromatin structure and gene silencing over considerable distances in the genome. PMID:16815976

  14. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

    NARCIS (Netherlands)

    van den Oever, Jessica M. E.; Bijlsma, Emilia K.; Feenstra, Ilse; Muntjewerff, Nienke; Mathijssen, Inge B.; Bakker, Egbert; van Belzen, Martine J.; Boon, Elles M. J.

    2015-01-01

    With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD). Fifteen couples have been included, assessing a total of n = 20 pregnancies. Fetal paternally inherited CAG repeat length was determined in total

  15. Strictly convex renormings

    Czech Academy of Sciences Publication Activity Database

    Moltó, A.; Orihuela, J.; Troyanski, S.; Zizler, Václav

    2007-01-01

    Roč. 75, č. 3 (2007), s. 647-658 ISSN 0024-6107 R&D Projects: GA AV ČR IAA100190502 Institutional research plan: CEZ:AV0Z10190503 Keywords : strictly convex norms * lattice norm * quasi-diagonal sets Subject RIV: BA - General Mathematics Impact factor: 0.733, year: 2007

  16. Quine's "Strictly Vegetarian" Analyticity

    NARCIS (Netherlands)

    Decock, L.B.

    2017-01-01

    I analyze Quine’s later writings on analyticity from a linguistic point of view. In Word and Object Quine made room for a “strictly vegetarian” notion of analyticity. In later years, he developed this notion into two more precise notions, which I have coined “stimulus analyticity” and “behaviorist

  17. The Recent Evolution of a Maternally-Inherited Endosymbiont of Ticks Led to the Emergence of the Q Fever Pathogen, Coxiella burnetii.

    Directory of Open Access Journals (Sweden)

    Olivier Duron

    2015-05-01

    Full Text Available Q fever is a highly infectious disease with a worldwide distribution. Its causative agent, the intracellular bacterium Coxiella burnetii, infects a variety of vertebrate species, including humans. Its evolutionary origin remains almost entirely unknown and uncertainty persists regarding the identity and lifestyle of its ancestors. A few tick species were recently found to harbor maternally-inherited Coxiella-like organisms engaged in symbiotic interactions, but their relationships to the Q fever pathogen remain unclear. Here, we extensively sampled ticks, identifying new and atypical Coxiella strains from 40 of 58 examined species, and used this data to infer the evolutionary processes leading to the emergence of C. burnetii. Phylogenetic analyses of multi-locus typing and whole-genome sequencing data revealed that Coxiella-like organisms represent an ancient and monophyletic group allied to ticks. Remarkably, all known C. burnetii strains originate within this group and are the descendants of a Coxiella-like progenitor hosted by ticks. Using both colony-reared and field-collected gravid females, we further establish the presence of highly efficient maternal transmission of these Coxiella-like organisms in four examined tick species, a pattern coherent with an endosymbiotic lifestyle. Our laboratory culture assays also showed that these Coxiella-like organisms were not amenable to culture in the vertebrate cell environment, suggesting different metabolic requirements compared to C. burnetii. Altogether, this corpus of data demonstrates that C. burnetii recently evolved from an inherited symbiont of ticks which succeeded in infecting vertebrate cells, likely by the acquisition of novel virulence factors.

  18. The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.

    Science.gov (United States)

    Suzuki, S; Hinokio, Y; Ohtomo, M; Hirai, M; Hirai, A; Chiba, M; Kasuga, S; Satoh, Y; Akai, H; Toyota, T

    1998-05-01

    The characteristic clinical features of diabetes mellitus with mitochondrial DNA (mtDNA) 3243(A-G) mutation are progressive insulin secretory defect, neurosensory deafness and maternal inheritance, referred to as maternally inherited diabetes mellitus and deafness (MIDD). A treatment for MIDD to improve insulin secretory defects and reduce deafness has not been established. The effects of coenzyme Q10 (CoQ10) treatment on insulin secretory response, hearing capacity and clinical symptoms of MIDD were investigated. 28 MIDD patients (CoQ10-DM), 7 mutant subjects with impaired glucose tolerance (IGT), and 15 mutant subjects with normal glucose tolerance (NGT) were treated daily with oral administration of 150 mg of CoQ10 for 3 years. Insulin secretory response, blood lactate after exercise, hearing capacity and other laboratory examinations were investigated every year. In the same way we evaluated 16 MIDD patients (control-DM), 5 mutant IGT and 5 mutant NGT subjects in yearly examinations. The insulin secretory response assessed by glucagon-induced C-peptide secretion and 24 h urinary C-peptide excretion after 3 years in the CoQ10-DM group was significantly higher than that in the control-DM group. CoQ10 therapy prevented progressive hearing loss and improved blood lactate after exercise in the MIDD patients. CoQ10 treatment did not affect the diabetic complications or other clinical symptoms of MIDD patients. CoQ10 treatment did not affect the insulin secretory capacity of the mutant IGT and NGT subjects. There were no side effects during therapy. This is the first report demonstrating the therapeutic usefulness of CoQ10 on MIDD.

  19. Maternally inherited architecture in tertiary leaf beetles: paleoichnology of cryptocephaline fecal cases in Dominican and Baltic amber.

    Science.gov (United States)

    Chaboo, Caroline S; Engel, Michael S; Chamorro-Lacayo, Maria Lourdes

    2009-09-01

    Complex ethological adaptations and intraspecific interactions leave few fossil traces. We document three Dominican (20 million years old [myo]) and Baltic (45 myo) amber fossils that exhibit firm evidence of highly integrated interactions between mothers and offspring in the diverse camptosomate lineage of beetles (Chrysomelidae, leaf beetles). As in contemporary species, these hard cases were initially constructed by mothers, then inherited and retained by offspring, which then elaborate this protective domicile with an unusual but economical building material, their feces. The three fossils are classified in the Subfamily Cryptocephalinae; two are classified in the tribe Chlamisini based on morphological evidence-the flattened head lacking a sharp keel and long legs with simple recurved untoothed claws. These diagnostic features are not clearly visible in the third specimen to permit more refined identification. These fossils provide more precise paleontological dating of tribal nodes within the cryptocephaline radiation of leaf beetles. These fossils are the first and earliest evidence of mother-offspring interaction, building behavior, and fecal recycling in Camptosomata beetles and of inheritance of architectural structures in beetles.

  20. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

    Science.gov (United States)

    Yau, Daphne; De Franco, Elisa; Flanagan, Sarah E; Ellard, Sian; Blumenkrantz, Miriam; Mitchell, John J

    2017-01-03

    Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare finding of parental mosaicism. The proband was born at term with severe intrauterine growth restriction, the first child of non-consanguineous parents. Diabetes occurred on day of life 1 with pancreatic exocrine insufficiency noted at several months of age. Pancreatic agenesis with absent gallbladder was confirmed when he underwent congenital diaphragmatic hernia and intestinal malrotation repair. A patent ductus arteriosus and pulmonary stenosis were repaired in infancy. Neurocognitive development has been normal. A second pregnancy was terminated due to tetralogy of Fallot and pulmonary hypoplasia secondary to congenital diaphragmatic hernia. The fetus also demonstrated severe pancreatic hypoplasia, gallbladder agenesis and intestinal rotation abnormalities. Despite severe hypoplasia, the pancreas demonstrated normal islet histology. Another sibling was found to have multiple cardiac abnormalities, requiring procedural intervention. Given the proband's spectrum of congenital anomalies, Sanger sequencing of the GATA6 gene was performed, revealing a novel heterozygous c.635_660del frameshift mutation (p.Pro212fs). The mutation is predicted to be pathogenic, resulting in inclusion of a premature stop codon and likely degradation of the gene transcript by nonsense-mediated decay. The abortus and the sibling with the cardiac defect were both found to have the mutation, while the father and remaining sibling were negative. The mother, who is healthy with no evidence of diabetes or cardiac disease, is mosaic for the mutation at a level of 11% in her peripheral leukocytes by next-generation sequencing. We highlight a rare mechanism of pancreatic agenesis, this being only the second report

  1. Maternal inheritance of twist and analysis of MAPK activation in embryos of the polychaete annelid Platynereis dumerilii.

    Directory of Open Access Journals (Sweden)

    Kathrin Pfeifer

    Full Text Available In this study, we aimed to identify molecular mechanisms involved in the specification of the 4d (mesentoblast lineage in Platynereis dumerilii. We employ RT-PCR and in situ hybridization against the Platynereis dumerilii twist homolog (Pdu-twist to reveal mesodermal specification within this lineage. We show that Pdu-twist mRNA is already maternally distributed. After fertilization, ooplasmatic segregation leads to relocation of Pdu-twist transcripts into the somatoblast (2d lineage and 4d, indicating that the maternal component of Pdu-twist might be an important prerequisite for further mesoderm specification but does not represent a defining characteristic of the mesentoblast. However, after the primordial germ cells have separated from the 4d lineage, zygotic transcription of Pdu-twist is exclusively observed in the myogenic progenitors, suggesting that mesodermal specification occurs after the 4d stage. Previous studies on spiral cleaving embryos revealed a spatio-temporal correlation between the 4d lineage and the activity of an embryonic organizer that is capable to induce the developmental fates of certain micromeres. This has raised the question if specification of the 4d lineage could be connected to the organizer activity. Therefore, we aimed to reveal the existence of such a proposed conserved organizer in Platynereis employing antibody staining against dpERK. In contrast to former observations in other spiralian embryos, activation of MAPK signaling during 2d and 4d formation cannot be detected which questions the existence of a conserved connection between organizer function and specification of the 4d lineage. However, our experiments unveil robust MAPK activation in the prospective nephroblasts as well as in the macromeres and some micromeres at the blastopore in gastrulating embryos. Inhibition of MAPK activation leads to larvae with a shortened body axis, defects in trunk muscle spreading and improper nervous system

  2. Maternal inheritance of deltamethrin resistance in the salmon louse Lepeophtheirus salmonis (Krøyer is associated with unique mtDNA haplotypes.

    Directory of Open Access Journals (Sweden)

    Greta Carmona-Antoñanzas

    Full Text Available Parasitic infections by the salmon louse, Lepeophtheirus salmonis (Krøyer, cause huge economic damage in salmon farming in the northern hemisphere, with combined treatment costs and production losses in 2014 having been estimated at US$ 350 million for Norway (annual production 1.25 million tonnes. The control of L. salmonis relies significantly on medicinal treatments, supplemented by non-pharmacological approaches. However, efficacy losses have been reported for several delousing agents, including the pyrethroid deltamethrin. The aim of the present study was to analyse the genetic basis of deltamethrin resistance in L. salmonis. Deltamethrin median effective concentrations (EC50 were 0.28 μg L-1 in the drug susceptible L. salmonis strain IoA-00 and 40.1 μg L-1 in the pyrethroid resistant strain IoA-02. IoA-00 and IoA-02 were crossed to produce families spanning one parental and three filial generations (P0, F1-F3. In three families derived from P0 crosses between an IoA-00 sire and an IoA-02 dam, 98.8% of F2 parasites (n = 173 were resistant, i.e. remained unaffected after exposure to 2.0 μg L-1 deltamethrin. F3 parasites from these crosses showed a deltamethrin EC50 of 9.66 μg L-1. In two families of the inverse orientation at P0 (IoA-02 sire x IoA-00 dam, 16.7% of F2 parasites were resistant (n = 84, while the deltamethrin EC50 in F3 animals was 0.26 μg L-1. The results revealed a predominantly maternal inheritance of deltamethrin resistance. The 15,947-nt mitochondrial genome was sequenced and compared among six unrelated L. salmonis strains and parasites sampled from wild salmon in 2010. IoA-02 and three further deltamethrin resistant strains, established from isolates originating from different regions of Scotland, showed almost identical mitochondrial haplotypes. In contrast, the mitochondrial genome was variable among susceptible strains and L. salmonis from wild hosts. Deltamethrin caused toxicity and depletion of whole body ATP

  3. Efficient Strictness Analysis of Haskell

    DEFF Research Database (Denmark)

    Jensen, Kristian Damm; Hjæresen, Peter; Rosendahl, Mads

    1994-01-01

    Strictness analysis has been a living field of investigation since Mycroft's original work in 1980, and is getting increasingly significant with the still wider use of lazy functional programming languages. This paper focuses on an actual implementation of a strictness analyser for Haskell...

  4. To inherit heritage or to inherit inheritance?

    Directory of Open Access Journals (Sweden)

    Vladimir Krivošejev

    2016-02-01

    Full Text Available The Republic of Serbia is one of the few, if not the only country in the world that, at ratification and translation of the term „baština“– heritage which appears in two significant and related international conventions of UNESCO, used different terms: „baština“– „heritage“, with regard to the Convention Concerning the Protection of the World Cultural and Natural Heritage, and „nasledje“ –inheritance in the Convention for the Safeguarding of the Intangible Cultural Heritage. One of the reasons for the subsequent rejection of the term heritage could lay in the opinion that it was the case of (end of 20th and beginning of the 21st century political bureaucratic introduction of an old, forgotten word, which also contains the notion of gender incorrectness based on pointing out the inheritance through the male line, which could be in conflict with international law. The views expressed in this paper suggest the unsustainability of these claims, as well as greater suitability of the term „baština“– heritage. Namely, the ratification of the Convention Concerning the Protection of the World Cultural and Natural Heritage was done as early as in 1974, and since then the term „baština“– heritage was used, its new introduction into use on the basis of recent daily political aspirations cannot be the case. At the same time inheritance through the male line is encountered with the use of the Latin word „patrimonium“, which is the basis for the terms used in the official translation of the UNESCO-listed conventions in French and Spanish: „patrimoine“ and „patrimonio“ (and other Roman languages so that the use of the term „baština“ –heritage cannot be a violation of international legal norms. Finally, bearing in mind the fact that, in general, use of languages is impossible to achieve complete gender purism, it is necessary to emphasize that in contrast to the term „nasledje“ – inheritance, the

  5. Species Protection in the European Union : How Strict is Strict?

    NARCIS (Netherlands)

    Schoukens, Hendrik; Bastmeijer, Kees; Born et al., Charles-Hubert

    2015-01-01

    European Union law to protect wild species of plants and animals is generally considered as ‘strict’. Opponents of nature conservation law often pick the species protection components of the EU Bird Directive and Habitat Directive as a prime example of an unnecessary strict regulatory scheme that

  6. Strictness Analysis for Attribute Grammars

    DEFF Research Database (Denmark)

    Rosendahl, Mads

    1992-01-01

    interpretation of attribute grammars. The framework is used to construct a strictness analysis for attribute grammars. Results of the analysis enable us to transform an attribute grammar such that attributes are evaluated during parsing, if possible. The analysis is proved correct by relating it to a fixpoint...... semantics for attribute grammars. An implementation of the analysis is discussed and some extensions to the analysis are mentioned....

  7. Flexible or Strict Taxonomic Organization?

    DEFF Research Database (Denmark)

    Glückstad, Fumiko Kano; Mørup, Morten

    2012-01-01

    This work compares methods for constructing feature-based ontologies that are supposed to be used for culturally-specific knowledge transfer. The methods to be compared are the Terminological Ontology (TO) [1], a method of constructing ontology based on strict principles and rules, and the Infinite...... Relational Model (IRM) [2], a novel unsupervised machine learning method that learns multi-dimensional relations among concepts and features from loosely structured datasets. These methods are combined with a novel cognitive model, the Bayesian Model of Generalization (BMG) [3] that maps culturally...

  8. The role of genealogy and clinical family histories in documenting possible inheritance patterns for diabetes mellitus in the pre-insulin era: part 2. Genealogic evidence for type 2 diabetes mellitus in Josephine Imperato's paternal and maternal lineages.

    Science.gov (United States)

    Imperato, Pascal James; Imperato, Gavin H

    2009-12-01

    Part 2 presents detailed genealogic information on Josephine Imperato's paternal and maternal lineages extending from four to seven generations into the nineteenth and eighteenth centuries. Among these lineages are some where early adult death over successive generations is perhaps indicative of type 2 diabetes mellitus (type 2 DM). These lineages, all in the town of San Prisco in Italy, include both paternal and maternal ones with the following surnames: Casaccia, Casertano, Cipriano, de Angelis, de Paulis, Peccerillo, Foniciello, di Monaco, Vaccarella, Valenziano, Ventriglia, and Zibella. Genealogic studies of eighteenth and nineteenth century vital records in this area of Italy cannot definitively establish type 2 diabetes mellitus as either an immediate or contributory cause of death. This is because causes of death were not recorded and because disease diagnostic capabilities were largely absent. Genealogic studies of those who lived in Italy in the eighteenth and nineteenth centuries can at best provide data on approximate age at time of death. Early adult death in this era was not uncommon. However, its presence over several successive generations in a lineage raises the possibility of inherited diseases prominent among which is type 2 DM.

  9. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

    Science.gov (United States)

    Uittenbogaard, Martine; Brantner, Christine A; Fang, ZiShui; Wong, Lee-Jun C; Gropman, Andrea; Chiaramello, Anne

    2018-03-27

    In this study, we report a novel perpective of metabolic consequences for the m.8993T>G variant using fibroblasts from a proband with clinical symptoms compatible with Maternally Inherited Leigh Syndrome (MILS). Definitive diagnosis was corroborated by mitochondrial DNA testing for the pathogenic variant m.8993T>G in MT-ATP6 subunit by Sanger sequencing. The long-range PCR followed by massively parallel sequencing method detected the near homoplasmic m.8993T>G variant at 83% in the proband's fibroblasts and at 0.4% in the mother's fibroblasts. Our results are compatible with very low levels of germline heteroplasmy or an apparent de novo mutation. Our mitochondrial morphometric analysis reveals severe defects in mitochondrial cristae structure in the proband's fibroblasts. Our live-cell mitochondrial respiratory analyses show impaired oxidative phosphorylation with decreased spare respiratory capacity in response to energy stress in the proband's fibroblasts. We detected a diminished glycolysis with a lessened glycolytic capacity and reserve, revealing a stunted ability to switch to glycolysis upon full inhibition of OXPHOS activities. This dysregulated energy reprogramming results in a defective interplay between OXPHOS and glycolysis during an energy crisis. Our study sheds light on the potential pathophysiologic mechanism leading to chronic energy crisis in this MILS patient harboring the m.8993T>G variant. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. Differential organellar inheritance in Passiflora's (Passifloraceae) subgenera.

    Science.gov (United States)

    Muschner, Valéria C; Lorenz-Lemke, Aline P; Vecchia, Maurizio; Bonatto, Sandro L; Salzano, Francisco M; Freitas, Loreta B

    2006-01-01

    Four chloroplast (cp), one mitochondrial (mt), and one ribosomal nuclear (ITS) DNA regions were studied in four artificial and one natural interspecific Passiflora hybrids. The ITS results confirmed their hybrid origin and all mtDNAs were maternally inherited. The same, however, was not true for cpDNA. The four hybrids (three artificial and one natural) derived from species of the Passiflora subgenus showed a cpDNA paternal inheritance, while the one involving taxa of the Decaloba subgenus gave evidence of maternal transmission. These results are of significance for the ongoing studies which are being performed on the molecular evolution of this genus and furnish important background for investigations aimed at clarifying the factors which determine cpDNA inheritance.

  11. Extremely strict ideals in Banach spaces

    Indian Academy of Sciences (India)

    Motivated by the notion of an ideal introduced by Godefroy {\\it et al.} ({\\it Studia Math.} {\\bf 104} (1993) 13–59), in this article, we introduce and study the notion of an extremely strict ideal. For a Poulsen simplex K , we show that the space of affine continuous functions on K is an extremely strict ideal in the space of continuous ...

  12. Hyperbolic spaces are of strictly negative type

    DEFF Research Database (Denmark)

    Hjorth, Poul G.; Kokkendorff, Simon L.; Markvorsen, Steen

    2002-01-01

    We study finite metric spaces with elements picked from, and distances consistent with, ambient Riemannian manifolds. The concepts of negative type and strictly negative type are reviewed, and the conjecture that hyperbolic spaces are of strictly negative type is settled, in the affirmative...

  13. Extremely strict ideals in Banach spaces

    Indian Academy of Sciences (India)

    Abstract. Motivated by the notion of an ideal introduced by Godefroy et al. (Stu- dia Math. 104 (1993) 13–59), in this article, we introduce and study the notion of an extremely strict ideal. For a Poulsen simplex K, we show that the space of affine contin- uous functions on K is an extremely strict ideal in the space of continuous ...

  14. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy

    International Nuclear Information System (INIS)

    Tabebi, Mouna; Mkaouar-Rebai, Emna; Mnif, Mouna; Kallabi, Fakhri; Ben Mahmoud, Afif; Ben Saad, Wafa; Charfi, Nadia; Keskes-Ammar, Leila; Kamoun, Hassen; Abid, Mohamed; Fakhfakh, Faiza

    2015-01-01

    Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. Several studies reported mutations in mitochondrial genes as potentially pathogenic for diabetes, since mitochondrial oxidative phosphorylation plays an important role in glucose-stimulated insulin secretion from beta cells. In the present report, we studied a Tunisian family with mitochondrial diabetes (MD) and deafness associated with nephropathy. The mutational analysis screening revealed the presence of a novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted and suggest its implication in the observed phenotype. Bioinformatic tools showed that m.9267G>C mutation (p.A21P) is « deleterious » and it can modify the function and the stability of the MT-COIII protein by affecting the assembly of mitochondrial COX subunits and the translocation of protons then reducing the activity of the respective OXPHOS complexes of ATP synthesis. The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. The m.9267G>C mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A (D4N) responsible of high blood pressure, a clinical feature detected in all explored patients. - Highlights: • MT-COX3 m.9267G>C (p.A21P), heteroplasmic substitution, is not reported in any database. • m.9267G>C can be responsible of the MIDD associated with nephropaty. • This substitution can modify the function and the stability of the MT-CO3 protein. • This substitution can modify MT-CO3 structure (2D and 3D). • MT-COX3 m.9267G>C is associated

  15. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy

    Energy Technology Data Exchange (ETDEWEB)

    Tabebi, Mouna, E-mail: mouna.biologiste@yahoo.com [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Mkaouar-Rebai, Emna [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Mnif, Mouna [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Kallabi, Fakhri; Ben Mahmoud, Afif [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Ben Saad, Wafa; Charfi, Nadia [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Keskes-Ammar, Leila; Kamoun, Hassen [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia); Abid, Mohamed [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Fakhfakh, Faiza, E-mail: faiza.fakhfakh@gmail.com [Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax (Tunisia)

    2015-04-10

    Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. Several studies reported mutations in mitochondrial genes as potentially pathogenic for diabetes, since mitochondrial oxidative phosphorylation plays an important role in glucose-stimulated insulin secretion from beta cells. In the present report, we studied a Tunisian family with mitochondrial diabetes (MD) and deafness associated with nephropathy. The mutational analysis screening revealed the presence of a novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted and suggest its implication in the observed phenotype. Bioinformatic tools showed that m.9267G>C mutation (p.A21P) is « deleterious » and it can modify the function and the stability of the MT-COIII protein by affecting the assembly of mitochondrial COX subunits and the translocation of protons then reducing the activity of the respective OXPHOS complexes of ATP synthesis. The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. The m.9267G>C mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A (D4N) responsible of high blood pressure, a clinical feature detected in all explored patients. - Highlights: • MT-COX3 m.9267G>C (p.A21P), heteroplasmic substitution, is not reported in any database. • m.9267G>C can be responsible of the MIDD associated with nephropaty. • This substitution can modify the function and the stability of the MT-CO3 protein. • This substitution can modify MT-CO3 structure (2D and 3D). • MT-COX3 m.9267G>C is associated

  16. Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

    Science.gov (United States)

    Neubert, Gerda; von Au, Katja; Drossel, Katrin; Tzschach, Andreas; Horn, Denise; Nickel, Renate; Kaindl, Angela M

    2013-01-10

    Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter. It is most frequently caused by a de novo maternal deletion of chromosome 15q11-q13 (about 70-90%), but can also be caused by paternal uniparental disomy of chromosome 15q11-q13 (3-7%), an imprinting defect (2-4%) or in mutations in the ubiquitin protein ligase E3A gene UBE3A mostly leading to frame shift mutation. In addition, for patients with overlapping clinical features (Angelman-like syndrome), mutations in methyl-CpG binding protein 2 gene MECP2 and cyclin-dependent kinase-like 5 gene CDKL5 as well as a microdeletion of 2q23.1 including the methyl-CpG binding domain protein 5 gene MBD5 have been described. Here, we describe a patient who carries a de novo 5Mb-deletion of chromosome 15q11.2-q13.1 known to be associated with Angelman syndrome and a further, maternally inherited deletion 2q21.3 (~364kb) of unknown significance. In addition to classic features of Angelman syndrome, she presented with severe infections in the first year of life, a symptom that has not been described in patients with Angelman syndrome. The 15q11.2-q13.1 deletion contains genes critical for Prader-Willi syndrome, the Angelman syndrome causing genes UBE3A and ATP10A/C, and several non-imprinted genes: GABRB3 and GABRA5 (both encoding subunits of GABA A receptor), GOLGA6L2, HERC2 and OCA2 (associated with oculocutaneous albinism II). The deletion 2q21.3 includes exons of the genes RAB3GAP1 (associated with Warburg Micro syndrome) and ZRANB3 (not disease-associated). Despite the normal phenotype of the mother, the relevance of the 2q21.3 microdeletion for the phenotype of the patient cannot be excluded, and further case reports will need to address this point. Copyright © 2012 Elsevier B.V. All rights reserved.

  17. Finite Metric Spaces of Strictly negative Type

    DEFF Research Database (Denmark)

    Hjorth, Poul G.

    If a finite metric space is of strictly negative type then its transfinite diameter is uniquely realized by an infinite extent (“load vector''). Finite metric spaces that have this property include all trees, and all finite subspaces of Euclidean and Hyperbolic spaces. We prove that if the distance...... matrix of a finite metric space is both hypermetric and regular, then it is of strictly negative type. We show that the strictly negative type finite subspaces of spheres are precisely those which do not contain two pairs of antipodal points....

  18. Maternal phenylketonuria

    Directory of Open Access Journals (Sweden)

    Kristina Štuikienė

    2013-04-01

    Full Text Available Phenylketonuria is a hereditary metabolic disorder inherited in an autosomal recessive pattern. Elevated phenylalanine levels in a pregnant woman with phenylketonuria result in phenylalanine embryopathy. Failure to follow special diets during gestation results in neonatal dysplasia. More favorable outcomes are observed when phenylalanine levels remain within normal ranges prior to conception, or at least when they reach normal levels by the 4th-10th weeks of gestation. We report the case of a newborn with maternal phenylketonuria.

  19. Hyperbolic spaces are of strictly negative type

    DEFF Research Database (Denmark)

    Hjorth, Poul G.; Kokkendorff, Simon L.; Markvorsen, Steen

    2002-01-01

    We study finite metric spaces with elements picked from, and distances consistent with, ambient Riemannian manifolds. The concepts of negative type and strictly negative type are reviewed, and the conjecture that hyperbolic spaces are of strictly negative type is settled, in the affirmative....... The technique of the proof is subsequently applied to show that every compact manifold of negative type must have trivial fundamental group, and to obtain a necessary criterion for product manifolds to be of negative type....

  20. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling; Lind-Thomsen, Allan; Mang, Yuan

    2011-01-01

    In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implicati......In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical...

  1. Inheritance versus parameterization

    DEFF Research Database (Denmark)

    Ernst, Erik

    2013-01-01

    This position paper argues that inheritance and parameterization differ in their fundamental structure, even though they may emulate each other in many ways. Based on this, we claim that certain mechanisms, e.g., final classes, are in conflict with the nature of inheritance, and hence causes...

  2. Strictly convex functions on complete Finsler manifolds

    Indian Academy of Sciences (India)

    ... Refresher Courses · Symposia · Live Streaming. Home; Journals; Proceedings – Mathematical Sciences; Volume 126; Issue 4. Strictly convex functions on complete Finsler manifolds. YOE ITOKAWA KATSUHIRO SHIOHAMA BANKTESHWAR TIWARI. Research Article Volume 126 Issue 4 October 2016 pp 623-627 ...

  3. Finite Metric Spaces of Strictly Negative Type

    DEFF Research Database (Denmark)

    Hjorth, Poul; Lisonek, P.; Markvorsen, Steen

    1998-01-01

    We prove that, if a finite metric space is of strictly negative type, then its transfinite diameter is uniquely realized by the infinite extender (load vector). Finite metric spaces that have this property include all spaces on two, three, or four points, all trees, and all finite subspaces of Eu...

  4. Inheriting geodesic flows

    Indian Academy of Sciences (India)

    times possessing a high degree of symmetry. In this paper we impose the ... The geometric and dynamic features, with perfect fluid and anisotropic matter tensors, ... so that the inheriting vector X is a conformal motion of the projection tensor.

  5. Extremely strict ideals in Banach spaces

    Indian Academy of Sciences (India)

    the space of regular Borel measures, it is easy to see that with respect to the projection μ → μ|(0, 1), M is an extremely strict ideal in C([0, 1]) but as the Lebesgue measure is non-atomic, M. ∗. 1 is not the norm closed ..... (Grenoble) 28 (1978) 35–65. [10] Rao T S S R K, On ideals in Banach spaces, Rocky Mountain J. Math.

  6. Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes.

    Science.gov (United States)

    Yang, Ying; Zhou, Tai-Cheng; Liu, Yong-Ying; Li, Xiao; Wang, Wen-Xue; Irwin, David M; Zhang, Ya-Ping

    2016-01-01

    Maturity-onset diabetes of the young (MODY) is characterized by the onset of diabetes before the age of 25 years, positive family history, high genetic predisposition, monogenic mutations, and an autosomal dominant mode of inheritance. Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. Detailed clinical assessments and genetic screening for mutations in the HNF4α, GCK, HNF-1α, IPF-1, HNF1β, and NEUROD1 genes were carried out in this family. One HNF4A mutation (p.T130I) and two HNF1A polymorphisms (p.I27L and p.S487N) were identified. Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. We demonstrated that mutation p.T130I in HNF4A was pathogenic as were the predicted polymorphisms p.I27L and p.S487N in HNF1A by genetic and functional analysis. Our results show that mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes.

  7. Strictness Analysis and Denotational Abstract Interpretation

    DEFF Research Database (Denmark)

    Nielson, Flemming

    1988-01-01

    there and this sufices to make the framework applicable to strictness analysis for the lambda-calculus. This shows the possibility of a general theory for the analysis of functional programs and it gives more insight into the relative precision of the various analyses. In particular it is shown that a collecting (static......A theory of abstract interpretation () is developed for a typed lambda-calculus. The typed lambda-calculus may be viewed as the ''static'' part of a two-level denotational metalanguage for which abstract interpretation was developed by ). The present development relaxes a condition imposed...

  8. 7 CFR 28.441 - Strict Middling Yellow Stained Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Middling Yellow Stained Color. 28.441 Section... Strict Middling Yellow Stained Color. Strict Middling Yellow Stained Color is color which is deeper than that of Strict Middling Tinged Color. [57 FR 34498, Aug. 5, 1992] ...

  9. 7 CFR 28.412 - Strict Middling Light Spotted Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Middling Light Spotted Color. 28.412 Section 28... Light Spotted Color. Strict Middling Light Spotted Color is color which in spot or color, or both, is between Strict Middling Color and Strict Middling Spotted Color. ...

  10. Doubly uniparental inheritance of mitochondria as a model system for studying germ line formation.

    Directory of Open Access Journals (Sweden)

    Liliana Milani

    Full Text Available BACKGROUND: Doubly Uniparental Inheritance (DUI of mitochondria occurs when both mothers and fathers are capable of transmitting mitochondria to their offspring, in contrast to the typical Strictly Maternal Inheritance (SMI. DUI was found in some bivalve molluscs, in which two mitochondrial genomes are inherited, one through eggs, the other through sperm. During male embryo development, spermatozoon mitochondria aggregate in proximity of the first cleavage furrow and end up in the primordial germ cells, while they are dispersed in female embryos. METHODOLOGY/PRINCIPAL FINDINGS: We used MitoTracker, microtubule staining and transmission electron microscopy to examine the mechanisms of this unusual distribution of sperm mitochondria in the DUI species Ruditapes philippinarum. Our results suggest that in male embryos the midbody deriving from the mitotic spindle of the first division concurs in positioning the aggregate of sperm mitochondria. Furthermore, an immunocytochemical analysis showed that the germ line determinant Vasa segregates close to the first cleavage furrow. CONCLUSIONS/SIGNIFICANCE: In DUI male embryos, spermatozoon mitochondria aggregate in a stable area on the animal-vegetal axis: in organisms with spiral segmentation this zone is not involved in cleavage, so the aggregation is maintained. Moreover, sperm mitochondria reach the same embryonic area in which also germ plasm is transferred. In 2-blastomere embryos, the segregation of sperm mitochondria in the same region with Vasa suggests their contribution in male germ line formation. In DUI male embryos, M-type mitochondria must be recognized by egg factors to be actively transferred in the germ line, where they become dominant replacing the Balbiani body mitochondria. The typical features of germ line assembly point to a common biological mechanism shared by DUI and SMI organisms. Although the molecular dynamics of the segregation of sperm mitochondria in DUI species are unknown

  11. Inheritance is Specialisation

    DEFF Research Database (Denmark)

    Torgersen, Mads

    2002-01-01

    of Smalltalk there has been a strong tension in the object-oriented community between two opposing views of the role of inheritance: as an incremental modification mechanism or as a vehicle for conceptual modelling. Madsen [5] and many others characterise the two approaches as the “American ” and “Scandinavian......How can we get a simpler but much more general subclass construct? This position paper takes a "specialisationist" approach to inheritance. Old SIMULA virtues are restored to prominence, but boiled with new unificational ingredients to obtain a substrate of specialisation. Ever since the advent...

  12. [Inherited aplastic anemias].

    Science.gov (United States)

    Esteves, A C; Freitas, O; Almeida, T; Rosado, L

    2010-08-01

    The inherited aplastic anaemias are a heterogeneous group of disorders characterized by bone marrow failure, frequent association with one or more somatic anomalies and increased risk of cancer. They are rare disorders, usually diagnosed at paediatric age, and have significant premature mortality. The authors report 11 cases of inherited aplastic anaemias, 8 of Fanconi's anaemia and 3 of Dyskeratosis congenita. These cases were diagnosed in the last 14 years in the Dona Estefânia Hospital. 2009 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  13. Safe Dynamic Multiple Inheritance

    DEFF Research Database (Denmark)

    Ernst, Erik

    2002-01-01

    Multiple inheritance and similar mechanisms are usually only supported at compile time in statically typed languages. Nevertheless, dynamic multiple inheritance would be very useful in the development of complex systems, because it allows the creation of many related classes without an explosion ...... of operands the '&' operator fails; as a result, dynamic creation of new classes and methods was considered a dangerous operation in all cases. This paper presents a large and useful category of combinations, and proves that combinations in this category will always succeed....

  14. Evolutionary origin and consequences of uniparental mitochondrial inheritance

    NARCIS (Netherlands)

    Hoekstra, R.F.

    2000-01-01

    In the great majority of sexual organisms, cytoplasmic genomes such as the mitochondrial genome are inherited (almost) exclusively through only one, usually the maternal, parent. This rule probably evolved to minimize the potential spread of selfish cytoplasmic genomic mutations through a species.

  15. Paternity and inheritance of wealth

    Science.gov (United States)

    Hartung, John

    1981-06-01

    One of the oldest conjectures in anthropology is that men transfer wealth to their sister's son when the biological paternity of their `own' children is in doubt1-12. Because maternity is certain, a man is necessarily related to his sister's son and his brother (see Fig. 1). It is argued here that relatedness to male heirs can be assured by passing wealth to sister's sons or down a line of brothers, whether the prevailing kinship system reckons those brothers matrilineally or patrilineally. It is also argued that when several transfers of wealth are considered, a man's likelihood of being cuckolded need not be unrealistically high13 for his successive matrilineal heirs to be more related to him than his successive patrilineal heirs (see Fig. 2). Cross-cultural data on sister's son/brother inheritance14 and frequency of extramarital sex for females15 support the hypothesis that men tend to transmit wealth to their sister's son and/or brother when the probability that their putative children are their genetic children is relatively low.

  16. Non-traditional inheritance

    International Nuclear Information System (INIS)

    Hall, J.G.

    1992-01-01

    In the last few years, several non-traditional forms of inheritance have been recognized. These include mosaicism, cytoplasmic inheritance, uniparental disomy, imprinting, amplification/anticipation, and somatic recombination. Genomic imprinting (GI) is the dependence of the phenotype on the sex of the transmitting parent. GI in humans seems to involve growth, behaviour, and survival in utero. The detailed mechanism of genomic imprinting is not known, but it seems that some process is involved in turning a gene off; this probably involves two genes, one of which produces a product that turns a gene off, and the gene that is itself turned off. The process of imprinting (turning off) may be associated with methylation. Erasure of imprinting can occur, and seems to be associated with meiosis. 10 refs

  17. Lipedema: an inherited condition.

    Science.gov (United States)

    Child, Anne H; Gordon, Kristiana D; Sharpe, Pip; Brice, Glen; Ostergaard, Pia; Jeffery, Steve; Mortimer, Peter S

    2010-04-01

    Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen-requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas. (c) 2010 Wiley-Liss, Inc.

  18. [Inheritance of human fingerprints].

    Science.gov (United States)

    Voĭtenko, V P; Poliukhov, A M; Kolodchenko, V P

    1979-01-01

    Polygenic threshold model of finger dermatoglyphics inheritance is worked out on the basis of family and population data. According to the model, ulnar loops are subthreshold patterns, which transforms into whorl or arch under the control of SU and SR gene complexes. Epistasis-hypostasis interactions take place between genes of SU and SR complexes. Classification of phenotypes for finger dermatoglyphics is offered and the frequency of these phenotypes in three populational samples of Kiev is studied.

  19. Geometrical optimization for strictly localized structures

    Science.gov (United States)

    Mo, Yirong

    2003-07-01

    Recently we proposed the block localized wavefunction (BLW) approach which takes the advantages of valence bond theory and molecular orbital theory and defines the wavefunctions for resonance structures based on the assumption that all electrons and orbitals are partitioned into a few subgroups. In this work, we implement the geometrical optimization of the BLW method based on the algorithm proposed by Gianinetti and coworkers. Thus, we can study the conjugation effect on not only the molecular stability, but also the molecular geometry. With this capability, the π conjugation effect in trans-polyenes C2nH2n+2 (n=2-5) as well as in formamide and its analogs are studied by optimizing their delocalized and strictly localized forms with the 6-31G(d) and 6-311+G(d,p) basis sets. Although it has been well presumed that the π resonance shortens the single bonds and lengthens the double bonds with the delocalization of π electrons across the whole line in polyenes, our optimization of the strictly localized structures quantitatively shows that when the conjugation effect is "turned off," the double bond lengths will be identical to the CC bond length in ethylene and the single Csp2-Csp2 bond length will be about 1.513-1.517 Å. In agreement with the classical Hückel theory, the resonance energies in polyenes are approximately in proportion to the number of double bonds. Similarly, resonance is responsible not only for the planarity of formamide, thioformamide, and selenoformamide, but also for the lengthening of the CX (X=O,S,Se) double bond and the shortening of the CN bonds. Although it is assumed that the CX bond polarization decreases in the order of O>S>Se, the π electronic delocalization increases in the opposite order, i.e., formamide

  20. Inheritance of cancer.

    Science.gov (United States)

    Frank, Steven A

    2004-12-01

    Extract: A single inherited mutant gene may be enough to cause a very high cancer risk. Single-mutation cases have provided much insight into the genetic basis of carcinogenesis, but they are relatively rare and account for only a small fraction of all cancers. Examples include mutation to the APC gene, causing early onset colon cancer in the syndrome familial adenomatous polyposis (tumorous polyp-tissue in the colon); mutation to either the BRCA1 or BRCA2 genes, causing an increased risk of breast cancer; and mutation to the TP53 gene, causing Li-Fraumeni syndrome with various early onset cancers such as bone or soft tissue sarcoma. Cancers sometimes cluster in families, but do not follow the rigid inheritance pattern characteristic of a mutation to a single gene. Males with a brother or father who has suffered prostate cancer are more likely to develop the disease. Similarly, females with a sister or mother who has suffered breast cancer are more likely to get a breast tumor. Some of the clustering may arise from the common diet and environment shared by families. Recently, however, researchers have begun to assign a significant fraction of cancer risk to the particular genetic variants that individuals inherit.

  1. From Regular to Strictly Locally Testable Languages

    Directory of Open Access Journals (Sweden)

    Stefano Crespi Reghizzi

    2011-08-01

    Full Text Available A classical result (often credited to Y. Medvedev states that every language recognized by a finite automaton is the homomorphic image of a local language, over a much larger so-called local alphabet, namely the alphabet of the edges of the transition graph. Local languages are characterized by the value k=2 of the sliding window width in the McNaughton and Papert's infinite hierarchy of strictly locally testable languages (k-slt. We generalize Medvedev's result in a new direction, studying the relationship between the width and the alphabetic ratio telling how much larger the local alphabet is. We prove that every regular language is the image of a k-slt language on an alphabet of doubled size, where the width logarithmically depends on the automaton size, and we exhibit regular languages for which any smaller alphabetic ratio is insufficient. More generally, we express the trade-off between alphabetic ratio and width as a mathematical relation derived from a careful encoding of the states. At last we mention some directions for theoretical development and application.

  2. 7 CFR 28.404 - Strict Low Middling Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Low Middling Color. 28.404 Section 28.404... for the Color Grade of American Upland Cotton § 28.404 Strict Low Middling Color. Strict Low Middling Color is color which is within the range represented by a set of samples in the custody of the United...

  3. 7 CFR 28.406 - Strict Good Ordinary Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Good Ordinary Color. 28.406 Section 28.406... for the Color Grade of American Upland Cotton § 28.406 Strict Good Ordinary Color. Strict Good Ordinary Color is color which is within the range represented by a set of samples in the custody of the...

  4. 7 CFR 28.402 - Strict Middling Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Middling Color. 28.402 Section 28.402... for the Color Grade of American Upland Cotton § 28.402 Strict Middling Color. Strict Middling Color is color which is within the range represented by a set of samples in the custody of the United States...

  5. Mammalian evolution may not be strictly bifurcating.

    Science.gov (United States)

    Hallström, Björn M; Janke, Axel

    2010-12-01

    The massive amount of genomic sequence data that is now available for analyzing evolutionary relationships among 31 placental mammals reduces the stochastic error in phylogenetic analyses to virtually zero. One would expect that this would make it possible to finally resolve controversial branches in the placental mammalian tree. We analyzed a 2,863,797 nucleotide-long alignment (3,364 genes) from 31 placental mammals for reconstructing their evolution. Most placental mammalian relationships were resolved, and a consensus of their evolution is emerging. However, certain branches remain difficult or virtually impossible to resolve. These branches are characterized by short divergence times in the order of 1-4 million years. Computer simulations based on parameters from the real data show that as little as about 12,500 amino acid sites could be sufficient to confidently resolve short branches as old as about 90 million years ago (Ma). Thus, the amount of sequence data should no longer be a limiting factor in resolving the relationships among placental mammals. The timing of the early radiation of placental mammals coincides with a period of climate warming some 100-80 Ma and with continental fragmentation. These global processes may have triggered the rapid diversification of placental mammals. However, the rapid radiations of certain mammalian groups complicate phylogenetic analyses, possibly due to incomplete lineage sorting and introgression. These speciation-related processes led to a mosaic genome and conflicting phylogenetic signals. Split network methods are ideal for visualizing these problematic branches and can therefore depict data conflict and possibly the true evolutionary history better than strictly bifurcating trees. Given the timing of tectonics, of placental mammalian divergences, and the fossil record, a Laurasian rather than Gondwanan origin of placental mammals seems the most parsimonious explanation.

  6. Sex-linked mitochondrial behavior during early embryo development in Ruditapes philippinarum (Bivalvia Veneridae) a species with the Doubly Uniparental Inheritance (DUI) of mitochondria.

    Science.gov (United States)

    Milani, Liliana; Ghiselli, Fabrizio; Passamonti, Marco

    2012-05-01

    In most metazoans mitochondria are inherited maternally. However, in some bivalve molluscs, two mitochondrial lineages are present: one transmitted through females (F-type), the other through males (M-type). This unique system is called Doubly Uniparental Inheritance (DUI) of mitochondria. In DUI species, M-type mitochondria have to invade the germ line of male embryos during development, otherwise sperm would transmit F-type mtDNA and DUI would fail. The mechanisms by which sperm mitochondria enter the germ line are still unknown. To address this question, we traced the movement of spermatozoon mitochondria (M-type) in embryos of the DUI species Ruditapes philippinarum by fertilizing eggs with sperm stained with the mitochondrial-specific vital dye MitoTracker Green. As in Mytilus DUI species, in R. philippinarum the distribution of sperm mitochondria follows two different patterns: an aggregated one in which these organelles locate near the first cleavage furrow, and a dispersed one in which sperm mitochondria are scattered. The presence of the two mitochondrial patterns in these taxa, together with their absence in species with Strictly Maternal Inheritance (SMI), confirms that their occurrence is related to DUI. Moreover, a Real-Time qPCR analysis showed that neither M-type nor F-type mitochondria undergo replication boosts in the earliest embryo development. This is the first study on sex-linked mtDNA copy number carried out by qPCR analysis on embryos of a DUI species and the first time the segregation patterns of sperm mitochondria are described in a DUI system other than Mytilus. © 2012 Wiley Periodicals, Inc.

  7. Inheritance of seed coat color in sesame

    Directory of Open Access Journals (Sweden)

    Hernán Laurentin

    2014-04-01

    Full Text Available The objective of this work was to determine the inheritance mode of seed coat color in sesame. Two crosses and their reciprocals were performed: UCLA37 x UCV3 and UCLA90 x UCV3, of which UCLA37 and UCLA90 are white seed, and UCV3 is brown seed. Results of reciprocal crosses within each cross were identical: F1 seeds had the same phenotype as the maternal parent, and F2 resulted in the phenotype brown color. These results are consistent only with the model in which the maternal effect is the responsible for this trait. This model was validated by recording the seed coat color of 100 F2 plants (F3 seeds from each cross with its reciprocal, in which the 3:1 expected ratio for plants producing brown and white seeds was tested with the chi-square test. Sesame seed color is determined by the maternal genotype. Proposed names for the alleles participating in sesame seed coat color are: Sc1, for brown color; and Sc2, for white color; Sc1 is dominant over Sc2.

  8. Modal Inclusion Logic: Being Lax is Simpler than Being Strict

    DEFF Research Database (Denmark)

    Hella, Lauri; Kuusisto, Antti Johannes; Meier, Arne

    2015-01-01

    We investigate the computational complexity of the satisfiability problem of modal inclusion logic. We distinguish two variants of the problem: one for strict and another one for lax semantics. The complexity of the lax version turns out to be complete for EXPTIME, whereas with strict semantics...

  9. 7 CFR 28.431 - Strict Middling Tinged Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Middling Tinged Color. 28.431 Section 28.431 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards... Color. Strict Middling Tinged Color is color which is better than Middling Tinged Color. ...

  10. 7 CFR 28.433 - Strict Low Middling Tinged Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Low Middling Tinged Color. 28.433 Section 28.433 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards... Tinged Color. Strict Low Middling Tinged Color is color which is within the range represented by a set of...

  11. 7 CFR 28.424 - Strict Low Middling Spotted Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Low Middling Spotted Color. 28.424 Section 28.424 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards... Spotted Color. Strict Low Middling Spotted Color is color which is within the range represented by a set...

  12. 7 CFR 28.426 - Strict Good Ordinary Spotted Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Good Ordinary Spotted Color. 28.426 Section 28.426 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards... Spotted Color. Strict Good Ordinary Spotted Color is color which is within the range represented by a set...

  13. 7 CFR 28.422 - Strict Middling Spotted Color.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Strict Middling Spotted Color. 28.422 Section 28.422 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards... Color. Strict Middling Spotted Color is color which is within the range represented by a set of samples...

  14. Strictly-regular number system and data structures

    DEFF Research Database (Denmark)

    Elmasry, Amr Ahmed Abd Elmoneim; Jensen, Claus; Katajainen, Jyrki

    2010-01-01

    We introduce a new number system that we call the strictly-regular system, which efficiently supports the operations: digit-increment, digit-decrement, cut, concatenate, and add. Compared to other number systems, the strictly-regular system has distinguishable properties. It is superior to the re...

  15. Compiler generation based on grammar inheritance

    NARCIS (Netherlands)

    Aksit, Mehmet; Mostert, Rene; Haverkort, Boudewijn R.H.M.

    1990-01-01

    The concept of grammar inheritance is introduced. Grammar inheritance is a structural organization of grammar rules by which a grammar inherits rules from ancestor grammars or may have its own rules inherited by descendant grammars. Grammar inheritance supports reusability and extensibility of

  16. Inherited epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Fine Jo-David

    2010-05-01

    Full Text Available Abstract Inherited epidermolysis bullosa (EB encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

  17. Inheritance and Establishment of Gut Microbiota in Chickens

    Directory of Open Access Journals (Sweden)

    Jinmei Ding

    2017-10-01

    Full Text Available In mammals, the microbiota can be transmitted from the placenta, uterus, and vagina of the mother to the infant. Unlike mammals, development of the avian embryo is a process isolated from the mother and thus in the avian embryo the gut microbial developmental process remains elusive. To explore the establishment and inheritance of the gut microbiome in the avian embryo, we used the chicken as the model organism to investigate the gut microbial composition in embryos, chicks, and maternal hens. We observed: (1 28 phyla and 162 genera of microbes in embryos where the dominated genus was Halomonas (79%. (2 65 genera were core microbiota in all stages with 42% and 62% gut microbial genera of embryo were found in maternal hen and chick, respectively. There was a moderate correlation (0.40 between the embryo and maternal, and 0.52 between the embryo and chick at the family level. (3 Gut microbes that are involved in substance metabolism, infectious disease, and environmental adaptation are enriched in embryos, chicks, and maternal hens, respectively. (4 94% genera of gut microbial composition were similar among three different chicken breeds which were maintained under similar conditions. Our findings provide evidence to support the hypothesis that part of the microbial colonizers harbored in early embryos were inherited from maternal hens, and the gut microbial abundance and diversity were influenced by environmental factors and host genetic variation during development.

  18. Dominantly inherited cystoid macular edema.

    Science.gov (United States)

    Fishman, G A; Goldberg, M F; Trautmann, J C

    1979-01-01

    Four patients of Greek ancestry had dominantly inherited cystoid macular edema. Characteristics of this syndrome include the following: an early onset and prolonged course of cystoid changes in the macula, followed by atrophy of the macula in later stages. Some patients also show leakage of fluorescein from the optic disc capillaries, subnormal EOG Lp/Dt ratios, elevated rod dark adaptation thresholds, red-green and blue-yellow color deficiencies, normal ERG findings, hyperopia, peripheral pigmentary retinopathy, and vitreous opacities. Dominantly inherited cystoid macular edema is a distinct genetic trait among the dominantly inherited macular dystrophies.

  19. Strategy and Aspects of Monitoring / Control Strictly in Coordinated Subsystems

    Directory of Open Access Journals (Sweden)

    William José Borges

    2012-06-01

    Full Text Available This paper aims to discuss the approach structures of the strictly coordinated theoretical framework developed by Zylbersztajn and Farina (1999 as an expanded perspective of the firm, taking into account the food supply chains as an extension of the nexus of contracts proposed by Coase (1937 and taken up by Williamson (1985. The structures stand out as strictly coordinated. Zylbersztajn and Farina (1999 turn to identifying points of common interests that encourage firms to promote contracts between themselves in a strictly coordinated way, considering the degree of asset specificity involved in the transaction and the competitive forces that determine the search for strategic positioning organizations to achieve sustainable superior results.

  20. Epigenetic inheritance, prions and evolution

    Indian Academy of Sciences (India)

    Johannes Manjrekar

    2017-07-11

    classical' TEI phenomena and their possible implications for evolution. The review then focusses on a less-discussed, unique kind of protein-only epigenetic inheritance mediated by prions. Much remains to be learnt about the ...

  1. Strict finitism and the logic of mathematical applications

    CERN Document Server

    Ye, Feng

    2011-01-01

    Exploring the logic behind applied mathematics to the physical world, this volume illustrates how radical naturalism, nominalism and strict finitism can account for the applications of classical mathematics in current theories about natural phenomena.

  2. Strict monotonicity and unique continuation of the biharmonic operator

    Directory of Open Access Journals (Sweden)

    Najib Tsouli

    2012-01-01

    Full Text Available In this paper, we will show that the strict monotonicity of the eigenvalues of the biharmonic operator holds if and only if some unique continuation property is satisfied by the corresponding eigenfunctions.

  3. Two examples of non strictly convex large deviations

    OpenAIRE

    De Marco, Stefano; Jacquier, Antoine; Roome, Patrick

    2016-01-01

    We present two examples of a large deviations principle where the rate function is not strictly convex. This is motivated by a model used in mathematical finance (the Heston model), and adds a new item to the zoology of non strictly convex large deviations. For one of these examples, we show that the rate function of the Cramer-type of large deviations coincides with that of the Freidlin-Wentzell when contraction principles are applied.

  4. Strictly contractive quantum channels and physically realizable quantum computers

    International Nuclear Information System (INIS)

    Raginsky, Maxim

    2002-01-01

    We study the robustness of quantum computers under the influence of errors modeled by strictly contractive channels. A channel T is defined to be strictly contractive if, for any pair of density operators ρ, σ in its domain, parallel Tρ-Tσ parallel 1 ≤k parallel ρ-σ parallel 1 for some 0≤k 1 denotes the trace norm). In other words, strictly contractive channels render the states of the computer less distinguishable in the sense of quantum detection theory. Starting from the premise that all experimental procedures can be carried out with finite precision, we argue that there exists a physically meaningful connection between strictly contractive channels and errors in physically realizable quantum computers. We show that, in the absence of error correction, sensitivity of quantum memories and computers to strictly contractive errors grows exponentially with storage time and computation time, respectively, and depends only on the constant k and the measurement precision. We prove that strict contractivity rules out the possibility of perfect error correction, and give an argument that approximate error correction, which covers previous work on fault-tolerant quantum computation as a special case, is possible

  5. Effects of cytoplasmic inheritance on preweaning traits of Hereford cattle

    Directory of Open Access Journals (Sweden)

    Mezzadra Carlos Alberto

    2005-01-01

    Full Text Available The influence of cytoplasmic inheritance on birth and weaning weight was evaluated in an experimental Hereford herd. Data on 1,720 records for birth and weaning weights from calves born between 1963 and 2002 were studied. Variance components were estimated using MTDFREML procedures and an animal model was fitted for each trait. Direct and maternal additive effects and permanent environment and maternal lineage effects were treated as random, while year and month of birth, age of dam and sex of the calf were treated as fixed. Identification of maternal lineages was based on pedigree information. The contribution to phenotypic variance of cytoplasmic lineages defined by pedigree information was negligible for both traits. Mitochondrial genotypes of cows present in the herd in 2002 were analyzed by single strand conformation polymorphism (SSCP analysis. Only five different genotypes were identified among 23 maternal lineages. All the animals with records were assigned to maternal genotypes based on pedigree information. The statistical analysis was repeated, removing maternal lineage from the model and including mitochondrial genotype as a fixed effect. No evidence of genotype effects was detected. These results suggest a negligible effect of the mitochondrial genome on the preweaning traits of this Hereford herd.

  6. The inheritance of groin hernia

    DEFF Research Database (Denmark)

    Burcharth, J; Pommergaard, H C; Rosenberg, Jacob

    2013-01-01

    Groin hernia has been proposed to be hereditary; however, a clear hereditary pattern has not been established yet. The purpose of this review was to analyze studies evaluating family history and inheritance patterns and to investigate the possible heredity of groin hernias.......Groin hernia has been proposed to be hereditary; however, a clear hereditary pattern has not been established yet. The purpose of this review was to analyze studies evaluating family history and inheritance patterns and to investigate the possible heredity of groin hernias....

  7. Convergence theorems for strictly hemi-contractive maps

    International Nuclear Information System (INIS)

    Chidume, C.E.; Osilike, M.O.

    1992-04-01

    It is proved that each of two well-known fixed point iteration methods (the Mann and the Ishikawa iteration methods) converges strongly to the fixed point of strictly hemi-contractive map in real Banach spaces with property (U, λ, m+1,m), λ is an element of R, m is an element of IN. The class of strictly hemi-contractive maps includes all strictly pseudo-contractive maps with nonempty fixed point sets; and Banach spaces with property (U, λ, m+1, m), λ is an element of R, m is an element of IN include the L p (or l p ) spaces, p≥2. Our theorems generalize important known results. (author). 22 refs

  8. Epigenetic inheritance, prions and evolution

    Indian Academy of Sciences (India)

    Such transgenerational epigenetic inheritance (TEI) raises obvious questions about a possible evolutionary role for epigenetic 'Lamarckian' mechanisms in evolution, particularly when epigenetic modifications are induced by environmental cues. In this review I attempt a brief overview of the periodically reviewed and ...

  9. Tragedy and the Epic Inheritance

    African Journals Online (AJOL)

    Tragedy and the Epic Inheritance. Chaos, says Hesiod in the Theogony, came into being .... fifth century) offered a cosmology which was in effect a remythologization of ideas of the origins of the world ... Unlike Euripides and Aristophanes, Empedocles was not concerned with the personalities and effects which could be.

  10. Mann iteration with errors for strictly pseudo-contractive mappings ...

    African Journals Online (AJOL)

    It is well known that any fixed point of a Lipschitzian strictly pseudo-contractive self mapping of a nonempty closed convex and bounded subset K of a Banach space X is unique [6] and may be norm approximated by an iterative procedure. In this paper, we show that Mann iteration with errors can be used to approximate the ...

  11. Dominated operators, absolutely summing operators and the strict ...

    African Journals Online (AJOL)

    b(X;E) be the space of all E-valued bounded continuous functions on X, equipped with the strict topology β. We study dominated and absolutely summing operators T : Cb(X;E) → F. We derive that if X is a locally compact Hausdorff space and E ...

  12. Convergence of GAOR Iterative Method with Strictly Diagonally Dominant Matrices

    Directory of Open Access Journals (Sweden)

    Guangbin Wang

    2011-01-01

    Full Text Available We discuss the convergence of GAOR method for linear systems with strictly diagonally dominant matrices. Moreover, we show that our results are better than ones of Darvishi and Hessari (2006, Tian et al. (2008 by using three numerical examples.

  13. Runaway selection for cooperation and strict-and-severe punishment.

    Science.gov (United States)

    Nakamaru, Mayuko; Dieckmann, Ulf

    2009-03-07

    Punishing defectors is an important means of stabilizing cooperation. When levels of cooperation and punishment are continuous, individuals must employ suitable social standards for defining defectors and for determining punishment levels. Here we investigate the evolution of a social reaction norm, or psychological response function, for determining the punishment level meted out by individuals in dependence on the cooperation level exhibited by their neighbors in a lattice-structured population. We find that (1) cooperation and punishment can undergo runaway selection, with evolution towards enhanced cooperation and an ever more demanding punishment reaction norm mutually reinforcing each other; (2) this mechanism works best when punishment is strict, so that ambiguities in defining defectors are small; (3) when the strictness of punishment can adapt jointly with the threshold and severity of punishment, evolution favors the strict-and-severe punishment of individuals who offer slightly less than average cooperation levels; (4) strict-and-severe punishment naturally evolves and leads to much enhanced cooperation when cooperation without punishment would be weak and neither cooperation nor punishment are too costly; and (5) such evolutionary dynamics enable the bootstrapping of cooperation and punishment, through which defectors who never punish gradually and steadily evolve into cooperators who punish those they define as defectors.

  14. Dominance on Strict Triangular Norms and Mulholland Inequality

    Czech Academy of Sciences Publication Activity Database

    Petrík, Milan

    2018-01-01

    Roč. 335, 15 March (2018), s. 3-17 ISSN 0165-0114 R&D Projects: GA ČR GJ15-07724Y Institutional support: RVO:67985807 Keywords : dominance relation * Mulholland inequality * strict triangular norm * transitivity Subject RIV: BA - General Mathematics Impact factor: 2.718, year: 2016

  15. Social inheritance can explain the structure of animal social networks

    Science.gov (United States)

    Ilany, Amiyaal; Akçay, Erol

    2016-01-01

    The social network structure of animal populations has major implications for survival, reproductive success, sexual selection and pathogen transmission of individuals. But as of yet, no general theory of social network structure exists that can explain the diversity of social networks observed in nature, and serve as a null model for detecting species and population-specific factors. Here we propose a simple and generally applicable model of social network structure. We consider the emergence of network structure as a result of social inheritance, in which newborns are likely to bond with maternal contacts, and via forming bonds randomly. We compare model output with data from several species, showing that it can generate networks with properties such as those observed in real social systems. Our model demonstrates that important observed properties of social networks, including heritability of network position or assortative associations, can be understood as consequences of social inheritance. PMID:27352101

  16. Evaluation of a strict protocol approach in managing women with ...

    African Journals Online (AJOL)

    original ... survived and a further 10 maternal deaths due to complications ..... Unsafe abortion. Administrative factors. Lack of health care facilities including ICU beds'. Barriers to entry. Communication problems. Medical personnel. Inadequate ...

  17. Maternal immunisation

    NARCIS (Netherlands)

    Verweij, Marcel; Lambach, Philipp; Ortiz, Justin R.; Reis, Andreas

    2016-01-01

    There has been increased interest in the potential of maternal immunisation to protect maternal, fetal, and infant health. Maternal tetanus vaccination is part of routine antenatal care and immunisation campaigns in many countries, and it has played an important part in the reduction of maternal

  18. Light and inherited retinal degeneration

    OpenAIRE

    Paskowitz, D M; LaVail, M M; Duncan, J L

    2006-01-01

    Light deprivation has long been considered a potential treatment for patients with inherited retinal degenerative diseases, but no therapeutic benefit has been demonstrated to date. In the few clinical studies that have addressed this issue, the underlying mutations were unknown. Our rapidly expanding knowledge of the genes and mechanisms involved in retinal degeneration have made it possible to reconsider the potential value of light restriction in specific genetic contexts. This review summ...

  19. Epigenetic Inheritance across the Landscape.

    Science.gov (United States)

    Whipple, Amy V; Holeski, Liza M

    2016-01-01

    The study of epigenomic variation at the landscape-level in plants may add important insight to studies of adaptive variation. A major goal of landscape genomic studies is to identify genomic regions contributing to adaptive variation across the landscape. Heritable variation in epigenetic marks, resulting in transgenerational plasticity, can influence fitness-related traits. Epigenetic marks are influenced by the genome, the environment, and their interaction, and can be inherited independently of the genome. Thus, epigenomic variation likely influences the heritability of many adaptive traits, but the extent of this influence remains largely unknown. Here, we summarize the relevance of epigenetic inheritance to ecological and evolutionary processes, and review the literature on landscape-level patterns of epigenetic variation. Landscape-level patterns of epigenomic variation in plants generally show greater levels of isolation by distance and isolation by environment then is found for the genome, but the causes of these patterns are not yet clear. Linkage between the environment and epigenomic variation has been clearly shown within a single generation, but demonstrating transgenerational inheritance requires more complex breeding and/or experimental designs. Transgenerational epigenetic variation may alter the interpretation of landscape genomic studies that rely upon phenotypic analyses, but should have less influence on landscape genomic approaches that rely upon outlier analyses or genome-environment associations. We suggest that multi-generation common garden experiments conducted across multiple environments will allow researchers to understand which parts of the epigenome are inherited, as well as to parse out the relative contribution of heritable epigenetic variation to the phenotype.

  20. Microelements and inherited metabolic diseases.

    Science.gov (United States)

    Marklová, Eliska

    2002-01-01

    In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and utilisation of microelements have also been recognized. Recent findings concerning hereditary hemochromatosis (iron), Wilson and Menkes diseases (copper), molybdenum cofactor deficiency (molybdenum), defects of cobalamine synthesis (cobalt) and acrodermatitis enteropathica (zinc) are reviewed.

  1. Utilizing inheritance in requirements engineering

    Science.gov (United States)

    Kaindl, Hermann

    1994-01-01

    The scope of this paper is the utilization of inheritance for requirements specification, i.e., the tasks of analyzing and modeling the domain, as well as forming and defining requirements. Our approach and the tool supporting it are named RETH (Requirements Engineering Through Hypertext). Actually, RETH uses a combination of various technologies, including object-oriented approaches and artificial intelligence (in particular frames). We do not attempt to exclude or replace formal representations, but try to complement and provide means for gradually developing them. Among others, RETH has been applied in the CERN (Conseil Europeen pour la Rechereche Nucleaire) Cortex project. While it would be impossible to explain this project in detail here, it should be sufficient to know that it deals with a generic distributed control system. Since this project is not finished yet, it is difficult to state its size precisely. In order to give an idea, its final goal is to substitute the many existing similar control systems at CERN by this generic approach. Currently, RETH is also tested using real-world requirements for the Pastel Mission Planning System at ESOC in Darmstadt. First, we outline how hypertext is integrated into a frame system in our approach. Moreover, the usefulness of inheritance is demonstrated as performed by the tool RETH. We then summarize our experiences of utilizing inheritance in the Cortex project. Lastly, RETH will be related to existing work.

  2. The information value of non-genetic inheritance in plants and animals.

    Directory of Open Access Journals (Sweden)

    Sinead English

    Full Text Available Parents influence the development of their offspring in many ways beyond the transmission of DNA. This includes transfer of epigenetic states, nutrients, antibodies and hormones, and behavioural interactions after birth. While the evolutionary consequences of such non-genetic inheritance are increasingly well understood, less is known about how inheritance mechanisms evolve. Here, we present a simple but versatile model to explore the adaptive evolution of non-genetic inheritance. Our model is based on a switch mechanism that produces alternative phenotypes in response to different inputs, including genes and non-genetic factors transmitted from parents and the environment experienced during development. This framework shows how genetic and non-genetic inheritance mechanisms and environmental conditions can act as cues by carrying correlational information about future selective conditions. Differential use of these cues is manifested as different degrees of genetic, parental or environmental morph determination. We use this framework to evaluate the conditions favouring non-genetic inheritance, as opposed to genetic determination of phenotype or within-generation plasticity, by applying it to two putative examples of adaptive non-genetic inheritance: maternal effects on seed germination in plants and transgenerational phase shift in desert locusts. Our simulation models show how the adaptive value of non-genetic inheritance depends on its mechanism, the pace of environmental change, and life history characteristics.

  3. Syncope in patients with inherited arrhythmias

    Directory of Open Access Journals (Sweden)

    Yukiko Nakano

    2017-12-01

    Full Text Available Syncope, a common symptom of cerebral ischemia often shows a multifactorial etiopathogenesis. Although inherited arrhythmias causing syncope is uncommon, such an occurrence could be a warning sign preceding cardiac arrest. Long QT syndrome (LQTS is a typical inherited arrhythmia causing syncope in children. Early diagnosis and treatment of LQTS using beta-blockers prevents recurrent syncope in LQTS. Brugada syndrome, another typical inherited arrhythmia causes syncope or sudden cardiac arrest in young individuals. Syncope as a symptom is useful for risk stratification of fatal arrhythmias and in selection of appropriate therapy. Catecholaminergic polymorphic ventricular tachycardia, another rare inherited arrhythmia causing recurrent syncope is associated with poor outcomes without medication. Early detection and therapeutic intervention improve prognosis; thus, correct diagnosis of syncope is imperative in cases of these inherited arrhythmias. We describe syncope associated with three typical inherited arrhythmias and discuss various diagnostic modalities. Keywords: Syncope, Inherited arrhythmia, Long QT syndrome, Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia

  4. Relaxation Methods for Strictly Convex Regularizations of Piecewise Linear Programs

    International Nuclear Information System (INIS)

    Kiwiel, K. C.

    1998-01-01

    We give an algorithm for minimizing the sum of a strictly convex function and a convex piecewise linear function. It extends several dual coordinate ascent methods for large-scale linearly constrained problems that occur in entropy maximization, quadratic programming, and network flows. In particular, it may solve exact penalty versions of such (possibly inconsistent) problems, and subproblems of bundle methods for nondifferentiable optimization. It is simple, can exploit sparsity, and in certain cases is highly parallelizable. Its global convergence is established in the recent framework of B -functions (generalized Bregman functions)

  5. Non-strictly black body spectrum from the tunnelling mechanism

    International Nuclear Information System (INIS)

    Corda, Christian

    2013-01-01

    The tunnelling mechanism is widely used to explain Hawking radiation. However, in many cases the analysis used to obtain the Hawking temperature only involves comparing the emission probability for an outgoing particle with the Boltzmann factor. Banerjee and Majhi improved this approach by explicitly finding a black body spectrum associated with black holes. Their result, obtained using a reformulation of the tunnelling mechanism, is in contrast to that of Parikh and Wilczek, who found an emission probability that is compatible with a non-strictly thermal spectrum. Using the recently identified effective state for a black hole, we solve this contradiction via a slight modification of the analysis by Banerjee and Majhi. The final result is a non-strictly black body spectrum from the tunnelling mechanism. We also show that for an effective temperature, we can express the corresponding effective metric using Hawking’s periodicity arguments. Potential important implications for the black hole information puzzle are discussed. -- Highlights: •We review an important result by Banerjee and Majhi on the tunnelling mechanism in the framework of Hawking radiation. •This result is in contrast to another result reported by Parikh and Wilczek. •We introduce the effective state of a black hole. •We explain the contrast via a slight modification of the analysis by Banerjee and Majhi. •We discuss potential important implications for the black hole information puzzle

  6. Inheritance of Arabica Coffee Resistance to Radopholus similisCobb.

    Directory of Open Access Journals (Sweden)

    Retno Hulupi

    2007-05-01

    Full Text Available A research to get inheritance of Arabica coffee resistance to Radopholus similisnematode was done in screen house and laboratory of Indonesian Coffee and Cocoa Research Institute, also at endemic area of coffee plantation, using F1, F1 R and F2 crossing between BP 542 A(resistant x Andungsari 1 (susceptible with their reciprocal, and BP 542 A x Kartika 1. The purpose of this study that was conducted at seedling stage is to formulate a Strategy for Arabica coffee breeding to get resistant varieties to nematode. As the variables of resistance were weight of seedling biomass, percent of root weight deviation, number of root nematodes, number of soil nematodes, reproduction and percent of necrotic root. Using discriminant analysis and fastclus, those data variables were analyzed for genetic of resistance with Statistical Analysis System programme version 8. Genetic study on the inheritance of resistance to R. similiswas started with evaluation of homozigosity of BP 542 A was resistant parent. The result showed that BP 542 A was heterozygous. Therefore, segregation test could not be suggested with segregation pattern principals as Mendel proposed. Segregation test on BP 542 A showed that it was heterozygote and the resistance was controlled by single gene with complete dominant effect, so the progeny segregated in 75% resistant and 25% susceptible. The result of the test showed the absence of maternal effect for root weight deviation and percentage of necrotic root variables, which meant that no cytoplasmic inheritance was involved. Based on the test of segregation ratio, almost all of the resistance was not appropriate for monogenic and or digenic segregation pattern as expected due to non allelic gene interaction that caused epistasis. Key words: Inheritance, resistance, Arabica coffee, Radopholus similis.

  7. De Novo assembly of the Manila clam Ruditapes philippinarum transcriptome provides new insights into expression bias, mitochondrial doubly uniparental inheritance and sex determination.

    Science.gov (United States)

    Ghiselli, Fabrizio; Milani, Liliana; Chang, Peter L; Hedgecock, Dennis; Davis, Jonathan P; Nuzhdin, Sergey V; Passamonti, Marco

    2012-02-01

    Males and females share the same genome, thus, phenotypic divergence requires differential gene expression and sex-specific regulation. Accordingly, the analysis of expression patterns is pivotal to the understanding of sex determination mechanisms. Many bivalves are stable gonochoric species, but the mechanism of gonad sexualization and the genes involved are still unknown. Moreover, during the period of sexual rest, a gonad is not present and sex cannot be determined. A mechanism associated with germ line differentiation in some bivalves, including the Manila clam Ruditapes philippinarum, is the doubly uniparental inheritance (DUI) of mitochondria, a variation of strict maternal inheritance. Two mitochondrial lineages are present, one transmitted through eggs and the other through sperm, as well as a mother-dependent sex bias of the progeny. We produced a de novo annotation of 17,186 transcripts from R. philippinarum and compared the transcriptomes of males and females and identified 1,575 genes with strong sex-specific expression and 166 sex-specific single nucleotide polymorphisms, obtaining preliminary information about genes that could be involved in sex determination. Then we compared the transcriptomes between a family producing predominantly females and a family producing predominantly males to identify candidate genes involved in regulation of sex-specific aspects of DUI system, finding a relationship between sex bias and differential expression of several ubiquitination genes. In mammalian embryos, sperm mitochondria are degraded by ubiquitination. A modification of this mechanism is hypothesized to be responsible for the retention of sperm mitochondria in male embryos of DUI species. Ubiquitination can additionally regulate gene expression, playing a role in sex determination of several animals. These data enable us to develop a model that incorporates both the DUI literature and our new findings.

  8. Syncope in patients with inherited arrhythmias

    OpenAIRE

    Yukiko Nakano; Shimizu Wataru

    2017-01-01

    Syncope, a common symptom of cerebral ischemia often shows a multifactorial etiopathogenesis. Although inherited arrhythmias causing syncope is uncommon, such an occurrence could be a warning sign preceding cardiac arrest. Long QT syndrome (LQTS) is a typical inherited arrhythmia causing syncope in children. Early diagnosis and treatment of LQTS using beta-blockers prevents recurrent syncope in LQTS. Brugada syndrome, another typical inherited arrhythmia causes syncope or sudden cardiac arres...

  9. Effects of a strict cutoff on Quantum Field Theory

    International Nuclear Information System (INIS)

    Sturnfield, J.F.

    1987-01-01

    Standard Quantum Field Theory has a number of integrals which are infinite. Although these are eliminated for some cases by renormalization, this aspect of the theory is not fully satisfactory. A number of theories with fundamental lengths have been introduced as alternatives and it would be useful to be able to distinguish between them. In particular, the effects that a strict cutoff would have on Quantum Field Theory is studied. It is noted that care must be taken in the method used to apply a strict cutoff. This lead to considering a theory where the cutoffs are defined by restricting each internal line. This theory is only piece-wise analytic. The resulting scattering matrix is frame dependent, yet the theory still satisfies the special relativity view that all frames are subjectively identical. The renormalization of this theory is finite. The change in mass from the electron self-energy will be a spinor operator. The main distinctions of this theory from standard theory will occur at super high energies. New poles and resonances which arise from new endpoint singularities will be found. The locations of these singularities will be frame dependent. Some of these singularities will correspond to creations or interactions of the normal particles with tachyons. It will be shown that for the one loop diagram, the form of the cutoff singularities are closely related to the standard singularities. When there is more than one loop, there can appear some new type of behavior. In particular, a cube root type of behavior in the two loop self-energy diagram will be found. Also the asymptotic behavior of the ladder diagram is studied

  10. Legal Portion in Russian Inheritance Law

    Science.gov (United States)

    Inshina, Roza; Murzalimova, Lyudmila

    2013-01-01

    In this paper the authors describe the right to inherit as one of the basic human rights guaranteed by the Constitution of the Russian Federation. The state has set rules according to which after a person's death, his or her property is inherited by other persons. The Russian civil legislation establishes the institution of legal portions that is…

  11. Inherited thrombophilia and pregnancy complications revisited

    NARCIS (Netherlands)

    Rodger, Marc A.; Paidas, Michael; McLintock, Claire; Claire, McLintock; Middeldorp, Saskia; Kahn, Susan; Martinelli, Ida; Hague, William; Rosene Montella, Karen; Greer, Ian

    2008-01-01

    Inherited thrombophilias are not yet established as a cause of placenta-mediated pregnancy complications, such as fetal growth restriction, preeclampsia, abruption, and pregnancy loss. An inherited thrombophilia is only one of many factors that lead to development of these diseases and is unlikely

  12. [Maternal phenylketonuria].

    Science.gov (United States)

    Bókay, János; Kiss, Erika; Simon, Erika; Szőnyi, László

    2013-05-05

    Elevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, significant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninaemia, should receive detailed counselling regarding their risks for adverse foetal effects, optimally before contemplating pregnancy. The most assured way to prevent maternal phenylketonuria is to maintain the maternal phenylalanine levels within the optimal range already before conception and throughout the whole pregnancy. Authors review the comprehensive programme for prevention of maternal phenylketonuria at the Metabolic Center of Budapest, they survey the practical approach of the continuous maternal metabolic control and delineate the outcome of pregnancies of mothers with phenylketonuria from the introduction of newborn screening until most recently.

  13. The evolutionary implications of epigenetic inheritance.

    Science.gov (United States)

    Jablonka, Eva

    2017-10-06

    The Modern Evolutionary Synthesis (MS) forged in the mid-twentieth century was built on a notion of heredity that excluded soft inheritance, the inheritance of the effects of developmental modifications. However, the discovery of molecular mechanisms that generate random and developmentally induced epigenetic variations is leading to a broadening of the notion of biological heredity that has consequences for ideas about evolution. After presenting some old challenges to the MS that were raised, among others, by Karl Popper, I discuss recent research on epigenetic inheritance, which provides experimental and theoretical support for these challenges. There is now good evidence that epigenetic inheritance is ubiquitous and is involved in adaptive evolution and macroevolution. I argue that the many evolutionary consequences of epigenetic inheritance open up new research areas and require the extension of the evolutionary synthesis beyond the current neo-Darwinian model.

  14. 7 CFR 28.414 - Strict Low Middling Light Spotted Color.

    Science.gov (United States)

    2010-01-01

    ... CONTAINER REGULATIONS COTTON CLASSING, TESTING, AND STANDARDS Standards Light Spotted Cotton § 28.414 Strict Low Middling Light Spotted Color. Strict Low Middling Light Spotted Color is color which in spot or...

  15. Gene therapy of inherited immunodeficiencies.

    Science.gov (United States)

    Santilli, Giorgia; Thornhill, Susannah I; Kinnon, Christine; Thrasher, Adrian J

    2008-04-01

    Primary immunodeficiencies (PID) are a group of inherited diseases that affect the development or activity of the immune system. In severe cases allogeneic haematopoietic stem cell transplantation has proved to be a successful curative modality but it is limited by toxicity and reduced efficacy in mismatched donor settings. Gene therapy for PID has been developed as an alternative strategy and has entered the clinical arena. In this review we discuss the outcomes of recent gene therapy trials and some of the problems that remain to be tackled. Results from clinical trials for X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficient SCID (ADA-SCID), and X-linked chronic granulomatous disease (X-CGD) are discussed. In addition, other conditions are highlighted such as the Wiskott Aldrich Syndrome (WAS) for which gene therapy has shown considerable promise in preclinical studies, and are currently being translated into novel clinical approaches. Whilst these encouraging results demonstrate that gene therapy can be used successfully to treat monogenic PID, the occurrence of vector-related side effects has highlighted the need for accurate assessment of the associated risks and a requirement for improvements in vector design.

  16. Thrombosis in Inherited Fibrinogen Disorders

    Science.gov (United States)

    Korte, Wolfgang; Poon, Man-Chiu; Iorio, Alfonso; Makris, Michael

    2017-01-01

    Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening. Due to the low prevalence of IFD, there is little information on pathophysiology or optimal treatment of thrombosis in these patients. We searched the literature for cases of thrombosis among IFD patients and identified a total of 128 patient reports. In approximately half of the cases, thromboses were spontaneous, while in the others trauma, surgery, and parturition contributed to the risk. The true mechanism(s) of thrombosis in IFD patients remain to be elucidated. A variety of anticoagulant treatments have been used in the treatment or prevention of thrombosis, sometimes with concurrent fibrinogen replacement therapy. There is no definite evidence that fibrinogen supplementation increases the risk of thrombosis, and it may potentially be effective in the treatment and prevention of both thrombosis and hemorrhage in IFD patients. PMID:28503122

  17. Leading the Team You Inherit.

    Science.gov (United States)

    Watkins, Michael D

    2016-06-01

    Most leaders don't have the luxury of building their teams from scratch. Instead they're put in charge of an existing group, and they need guidance on the best way to take over and improve performance. Watkins, an expert on transitions, suggests a three-step approach: Assess. Act quickly to size up the personnel you've inherited, systematically gathering data from one-on-one chats, team meetings, and other sources. Reflect, too, on the business challenges you face, the kinds of people you want in various roles, and the degree to which they need to collaborate. Reshape. Adjust the makeup of the team by moving people to new positions, shifting their responsibilities, or replacing them. Make sure that everyone is aligned on goals and how to achieve them--you may need to change the team's stated direction. Consider also making changes in the way the team operates (reducing the frequency of meetings, for example, or creating new subteams). Then establish ground rules and processes to sustain desired behaviors, and revisit those periodically. Accelerate team development. Set your people up for some early wins. Initial successes will boost everyone's confidence and reinforce the value of your new operating model, thus paving the way for ongoing growth.

  18. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  19. The inheritance of fingerprint patterns.

    Science.gov (United States)

    Slatis, H M; Katznelson, M B; Bonné-Tamir, B

    1976-05-01

    Analysis of the fingerprints of 571 members of the Habbanite isolate suggest inherited patterns and pattern sequences. A genetic theory has been developed; it assumes that the basic fingerprint pattern sequence is all ulnar loops and that a variety of genes cause deviations from this pattern sequence. Genes that have been proposed include: (1) a semidominant gene for whorls on the thumbs (one homozygote has whorls on both thumbs, the other has ulnar loops on both thumbs and the heterozygote usually has two ulnar loops or one ulnar loop and one whorl); (2) a semidominant gene for whorls on the ring fingers which acts like the gene for whorls on the thumbs; (3) a dominant gene for arches on the thumbs and often on other fingers; (4) one or more dominant genes for arches on the fingers; (5) a dominant gene for whorls on all fingers except for an ulnar loop on the middle finger; (6) a dominant gene for radial loops on the index fingers, frequently associated with an arch on the middle fingers; and (7) a recessive gene for radial loops on the ring and little fingers. These genes may act independently or may show epistasis.

  20. On N. Chomsky’s strict subcategorization of verbs

    Directory of Open Access Journals (Sweden)

    Janez Orešnik

    1966-12-01

    Full Text Available This paper studies the so-called strict subcategorization rules, and the theory associated with them, in the transformational grammar of. Erigl·ish as proposed by Noarn Chomsky in his Aspects. The syntactic component of English transformational grammar consists of two mutually ordered parts, viz., the base and the transformational subcomponents. The initial part of the base are the so-called categorial rules, which are of almost exclusive interest to us here. Their primary task is to generate what are usually called basic sentence patterns, and will here, with Chomsky (Aspects, p.ll3, be designated with the expression, frames of category symbols.- The rules of the transformational subcomponent modify, in various ways, the frames generated by the base. For several reasons - one of them being that the correct work of the transformational subcomponent quite often depends on the kind of lexical items with which the syntactic positions in the frames of category symbols have been filled, the lexical items must be introduced from the lexicon into the empty positions in the frames before the rules of the transformational subcomponent can be allowed to modify the frames.

  1. Managing Hanford Site solid waste through strict acceptance criteria

    International Nuclear Information System (INIS)

    Jasen, W.G.; Pierce, R.D.; Willis, N.P.

    1993-02-01

    Various types of waste have been generated during the 50-year history of the Hanford Site. Regulatory changes in the last 20 years have provided the emphasis for better management of these wastes. Interpretations of the Atomic Energy Act of 1954 (AEA) and the Resource Conservation and Recovery Act of 1976 (RCRA) have led to the definition of a group of wastes called radioactive mixed wastes (RMW). As a result of the radioactive and hazardous properties of these wastes, strict management programs have been implemented for the management of these wastes. Solid waste management is accomplished through a systems performance approach to waste management that used best-demonstrated available technology (BDAT) and best management practices. The solid waste program at the Hanford Site strives to integrate all aspects of management relative to the treatment, storage and disposal (TSD) of solid waste. Often there are many competing and important needs. It is a difficult task to balance these needs in a manner that is both equitable and productive. Management science is used to help the process of making decisions. Tools used to support the decision making process include five-year planning, cost estimating, resource allocation, performance assessment, waste volume forecasts, input/output models, and waste acceptance criteria. The purpose of this document is to describe how one of these tools, waste acceptance criteria, has helped the Hanford Site manage solid wastes

  2. Effects of strict prolonged bed rest on cardiorespiratory fitness

    DEFF Research Database (Denmark)

    Ried-Larsen, Mathias; Aarts, Hugo M; Joyner, Michael J

    2017-01-01

    with larger declines in V̇o2max). Furthermore, the systematic review revealed a gap in the knowledge about the cardiovascular response to extreme physical inactivity, particularly in older subjects and women of any age group. In addition to its relevance to spaceflight, this lack of data has significant....... Since 1949, 80 studies with a total of 949 participants (>90% men) have been published with data on strict bed rest and V̇o2max The studies were conducted mainly in young participants [median age (interquartile range) 24.5 (22.4-34.0) yr]. The duration of bed rest ranged from 1 to 90 days. V̇o2max...... declined linearly across bed rest duration. No statistical difference in the decline among studies reporting V̇o2max as l/min (-0.3% per day) compared with studies reporting V̇o2max normalized to body weight (ml·kg-1·min-1; -0.43% per day) was observed. Although both total body weight and lean body mass...

  3. Fixed point iterations for strictly hemi-contractive maps in uniformly smooth Banach spaces

    International Nuclear Information System (INIS)

    Chidume, C.E.; Osilike, M.O.

    1993-05-01

    It is proved that the Mann iteration process converges strongly to the fixed point of a strictly hemi-contractive map in real uniformly smooth Banach spaces. The class of strictly hemi-contractive maps includes all strictly pseudo-contractive maps with nonempty fixed point sets. A related result deals with the Ishikawa iteration scheme when the mapping is Lipschitzian and strictly hemi-contractive. Our theorems generalize important known results. (author). 29 refs

  4. A paternal environmental legacy: Evidence for epigenetic inheritance through the male germ line

    OpenAIRE

    Soubry, Adelheid; Hoyo, Cathrine; Jirtle, Randy L; Murphy, Susan K

    2014-01-01

    Literature on maternal exposures and the risk of epigenetic changes or diseases in the offspring is growing. Paternal contributions are often not considered. However, some animal and epidemiologic studies on various contaminants, nutrition, and lifestyle-related conditions suggest a paternal influence on the offspring's future health. The phenotypic outcomes may have been attributed to DNA damage or mutations, but increasing evidence shows that the inheritance of environmentally induced funct...

  5. Inherited predisposition to preeclampsia: Analysis of the Aberdeen intergenerational cohort.

    Science.gov (United States)

    Ayorinde, Abimbola A; Bhattacharya, Sohinee

    2017-04-01

    To assess the magnitude of familial risk of preeclampsia and gestational hypertension in women born of a preeclamptic pregnancy and those born of pregnancy complicated by gestational hypertension while accounting for other risk factors. An intergenerational dataset was extracted from the Aberdeen Maternity and Neonatal Databank (AMND) which records all pregnancy and delivery details occurring in Aberdeen, Scotland since 1950. The analysis included all nulliparous women whose mothers' records at their births are also recorded in the AMND. Multinomial logistic regression was used to assess the risk of having preeclampsia or gestational hypertension based on maternal history of preeclampsia or gestational hypertension. There were 17302 nulliparous women included, of whom 1057(6.1%) had preeclampsia while 4098(23.7%) had gestational hypertension. Furthermore, 424(2.5%) and 2940(17.0%) had maternal history of preeclampsia and gestational hypertension respectively. The risk of preeclampsia was higher in women who were born of pregnancies complicated by preeclampsia (adjusted RRR 2.55 95% CI 1.87-3.47). This was higher than the risk observed in women whose mothers had gestational hypertension (adjusted RRR 1.44 95% CI 1.23-1.69). Conversely, the risk of gestational hypertension was similar in those who were born of preeclamptic pregnancies (adjusted RRR 1.37 95% CI 1.09-1.71) and those whose mothers had gestational hypertension (adjusted RRR 1.36 95% CI 1.24-1.49). There was a dose response effect in the inheritance pattern of preeclampsia with the highest risk in women born of preeclamptic pregnancies. Gestational hypertension showed similar increased risk with maternal gestational hypertension and preeclampsia. Copyright © 2017 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.

  6. Autosomal dominant inheritance Caffey-Silverman disease hyperostosis corticalis infantum

    Energy Technology Data Exchange (ETDEWEB)

    Rogoyski, A. (Centre of Postgraduate Medical Education, Warsaw (Poland).); Jakubowska, K. (Paediatric Hospital, Dziekanow Lesny (Poland). Division of Radiology); Tronowska, T.D. (Paediatric Hospital, Dziekanow Lesny (Poland). Infants Division and Laboratory of Clinical Genetics)

    1984-01-01

    A case of Caffey-Silverman disease is described in an infant aged 4.5 months. The case was erroneously diagnosed in the initial stage of the disease as osteitis. The correct diagnosis was established after radiological examination of the skeleton. The pathological lesions involved the mandible, both clavicles, all ribs, left shoulder blade, both radial bones and left ulna. Follow-up radiological examination after 12 months demonstrated nearly complete disappearance of the previously observed skeletal changes. At the age of 18 months the condition of the child was good and its development was normal. Radiological changes indicating past Caffey-Silverman disease were disclosed in the mother and maternal grandmother of the child. This indicates an autosomal dominant type of inheritance of the disease.

  7. Autosomal dominant inheritance Caffey-Silverman disease hyperostosis corticalis infantum

    International Nuclear Information System (INIS)

    Rogoyski, A.; Jakubowska, K.; Tronowska, T.D.

    1984-01-01

    A case of Caffey-Silverman disease is described in an infant aged 4.5 months. The case was erroneously diagnosed in the initial stage of the disease as osteitis. The correct diagnosis was established after radiological examination of the skeleton. The pathological lesions involved the mandible, both clavicles, all ribs, left shoulder blade, both radial bones and left ulna. Follow-up radiological examination after 12 months demonstrated nearly complete disappearance of the previously observed skeletal changes. At the age of 18 months the condition of the child was good and its development was normal. Radiological changes indicating past Caffey-Silverman disease were disclosed in the mother and maternal grandmother of the child. This indicates an autosomal dominant type of inheritance of the disease. (Author)

  8. Towards unifying inheritance and automatic program specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2002-01-01

    and specialization of classes (inheritance) are considered different abstractions. We present a new programming language, Lapis, that unifies inheritance and program specialization at the conceptual, syntactic, and semantic levels. This paper presents the initial development of Lapis, which uses inheritance...... with covariant specialization to control the automatic application of program specialization to class members. Lapis integrates object-oriented concepts, block structure, and techniques from automatic program specialization to provide both a language where object-oriented designs can be e#ciently implemented...

  9. Testamental inheritance: Just a legal osmosis?

    Directory of Open Access Journals (Sweden)

    Đorđević-Crnobrnja Jadranka

    2011-01-01

    Full Text Available Bequeath, a dispose of personal property by the last will is an example of intervention of legislation within the complex of customary law. This influence is not unusual but certainly is less frequent than the influence of customary into civil law, especially so in their interaction within inheritance. This paper therefore tries to explain this example of legal osmosis in practice. In addition, the practice in testament inheritance shows also an influence of customary law into legislation. Hence, the paper will also try to discuss a relationship between customary and civil laws and succeeding problems in inheritance at the levels of individual and that of the society.

  10. Strict or graduated punishment? Effect of punishment strictness on the evolution of cooperation in continuous public goods games.

    Directory of Open Access Journals (Sweden)

    Hajime Shimao

    Full Text Available Whether costly punishment encourages cooperation is one of the principal questions in studies on the evolution of cooperation and social sciences. In society, punishment helps deter people from flouting rules in institutions. Specifically, graduated punishment is a design principle for long-enduring common-pool resource institutions. In this study, we investigate whether graduated punishment can promote a higher cooperation level when each individual plays the public goods game and has the opportunity to punish others whose cooperation levels fall below the punisher's threshold. We then examine how spatial structure affects evolutionary dynamics when each individual dies inversely proportional to the game score resulting from the social interaction and another player is randomly chosen from the population to produce offspring to fill the empty site created after a player's death. Our evolutionary simulation outcomes demonstrate that stricter punishment promotes increased cooperation more than graduated punishment in a spatially structured population, whereas graduated punishment increases cooperation more than strict punishment when players interact with randomly chosen opponents from the population. The mathematical analysis also supports the results.

  11. Strict or Graduated Punishment? Effect of Punishment Strictness on the Evolution of Cooperation in Continuous Public Goods Games

    Science.gov (United States)

    Shimao, Hajime; Nakamaru, Mayuko

    2013-01-01

    Whether costly punishment encourages cooperation is one of the principal questions in studies on the evolution of cooperation and social sciences. In society, punishment helps deter people from flouting rules in institutions. Specifically, graduated punishment is a design principle for long-enduring common-pool resource institutions. In this study, we investigate whether graduated punishment can promote a higher cooperation level when each individual plays the public goods game and has the opportunity to punish others whose cooperation levels fall below the punisher’s threshold. We then examine how spatial structure affects evolutionary dynamics when each individual dies inversely proportional to the game score resulting from the social interaction and another player is randomly chosen from the population to produce offspring to fill the empty site created after a player’s death. Our evolutionary simulation outcomes demonstrate that stricter punishment promotes increased cooperation more than graduated punishment in a spatially structured population, whereas graduated punishment increases cooperation more than strict punishment when players interact with randomly chosen opponents from the population. The mathematical analysis also supports the results. PMID:23555826

  12. Defeasible inheritance-based description logics

    CSIR Research Space (South Africa)

    Casini, G

    2013-01-01

    Full Text Available of Artificial Intelligence Research 2013 Defeasible Inheritance-based Description Logics Giovanni Casini GCASINI@CSIR.CO.ZA Centre for Artificial Intelligence Research (CAIR), CSIR Meraka Institute and UKZN, South Africa Umberto Straccia UMBERTO...

  13. Asymmetric inheritance of cytoophidia in Schizosaccharomyces pombe

    OpenAIRE

    Zhang, Jing; Hulme, Lydia; Liu, Ji-Long

    2014-01-01

    ABSTRACT A general view is that Schizosaccharomyces pombe undergoes symmetric cell division with two daughter cells inheriting equal shares of the content from the mother cell. Here we show that CTP synthase, a metabolic enzyme responsible for the de novo synthesis of the nucleotide CTP, can form filamentous cytoophidia in the cytoplasm and nucleus of S. pombe cells. Surprisingly, we observe that both cytoplasmic and nuclear cytoophidia are asymmetrically inherited during cell division. Our t...

  14. Inheritance and Synchronization in Concurrent OOP

    Science.gov (United States)

    Briot, Jean-Pierre; Yonezawa, Akinori

    This paper discusses knowledge sharing (inheritance) mechanisms for Object-Oriented Programming (OOP) in the context of concurrent (distributed) languages. We review three different schemes: inheritance, delegation and copy. A fourth model, called recipe-query, is presented and all are compared and criticized. Techniques relying on the shared memory assumption are rejected. We point out the conflict between distributing knowledge among objects and the synchronization of concurrent objects.

  15. Inheritance of resistance to acrinathrin in Frankliniella occidentalis (Thysanoptera: Thripidae).

    Science.gov (United States)

    Bielza, Pablo; Quinto, Vicente; Fernández, Esther; Grávalos, Carolina; Abellán, Jaime; Cifuentes, Dina

    2008-05-01

    The western flower thrips (WFT), Frankliniella occidentalis (Pergande), is an economically important pest. The genetic basis of acrinathrin resistance was investigated in WFT. The resistant strain, selected in the laboratory for acrinathrin resistance from a pool of thrips populations collected in Almeria (south-eastern Spain), showed a high resistance to acrinathrin (43-fold based on LC(50) values) compared with the laboratory susceptible strain. Mortality data from reciprocal crosses of resistant and susceptible thrips indicated that resistance was autosomal and not influenced by maternal effects. Analysis of probit lines from the parental strains and reciprocal crosses showed that resistance was expressed as a codominant trait. To determine the number of genes involved, a direct test of monogenic inheritance based on the backcrosses suggested that resistance to acrinathrin was probably controlled by one locus. Another approach, which was based on phenotypic variances, showed n(E), or the minimum number of freely segregating genetic factors for the resistant strain, to be 0.79. The results showed that acrinathrin resistance in WFT was autosomal and not influenced by maternal effects, and was expressed as a codominant trait, probably controlled by one locus. Copyright (c) 2008 Society of Chemical Industry.

  16. Maternally acquired runt disease.

    Science.gov (United States)

    Beer, A E; Billingham, R E

    1973-01-19

    Without altering the structural integrity of the placenta by irradiation or drugs, we have shown that it is possible to immunize females both adoptively and actively against the paternally inherited transplantation antigens of their fetuses. Such immunization causes a high incidence of runt disease among the litters. Although the putative chimeric status of the affected offspring has yet to be confirmed, the results of our experiments support the thesis that runt disease is caused by the activities of "unwanted" immigrant lymphocytes from the maternal circulation. Our results suggest that immunologically activated cells are more likely to cross the placenta than normal cells and that this greater mobility may not be related to the immunologic specificity of the activated cells. Two factors may have contributed to the apparent failure of numerous previous attempts to demonstrate the capacity of transplantation immunity to affect the well-being of a fetus or, more correctly, its placenta, in the way that might be expected of a homograft. (i) Investigators were preoccupied with obtaining a classic type of rejection, in utero, analogous to the rejection of an orthotopic skin homograft. The birth of consistently healthy-looking litters, interpreted as a failure of the experiment, convinced the investigators of the efficacy of nature's solution of the homograft problem and there was no reason for them to suspect its possible limitations. Observation of the litters for several weeks might have uncovered the phenomenon of maternally induced runt disease. (ii) Most investigators resorted to hyperimmunization of the mothers. This would have facilitated the synthesis of protective isoantibodies capable of interfering with the expression of the potentially harmful cellular immune response (6). Ever since the abnormalities of runt disease were first described they have repeatedly been compared to those observed in patients with certain lymphomas (17). Various theories have been

  17. Arm-Gal4 inheritance influences development and lifespan in Drosophila melanogaster.

    Science.gov (United States)

    Slade, F A; Staveley, B E

    2015-10-19

    The UAS-Gal4 ectopic expression system is a widely used and highly valued tool that allows specific gene expression in Drosophila melanogaster. Yeast transcription factor Gal4 can be directed using D. melanogaster transcriptional control elements, and is often assumed to have little effect on the organism. By evaluation of the consequences of maternal and paternal inheritance of a Gal4 transgene under the transcriptional regulation of armadillo control elements (arm-Gal4), we demonstrated that Gal4 expression could be detrimental to development and longevity. Male progeny expressing arm-Gal4 in the presence of UAS-lacZ transgene had reduced numbers and size of ommatidia, compared to flies expressing UAS-lacZ transgene under the control of other Gal4 transgenes. Aged at 25°C, the median life span of male flies with maternally inherited elav-Gal4 was 70 days, without a responding transgene or with UAS-lacZ. The median life span of maternally inherited arm-Gal4 male flies without a responding transgene was 48 days, and 40 days with the UAS-lacZ transgene. A partial rescue of this phenotype was observed with the expression of UAS-lacZ under paternal arm-Gal4 control, having an average median lifespan of 60 days. This data suggests that arm-Gal4 has detrimental effects on Drosophila development and lifespan that are directly dependent upon parental inheritance, and that the benign responder and reporter gene UAS-lacZ may influence D. melanogaster development. These findings should be taken into consideration during the design and execution of UAS-Gal4 expression experiments.

  18. The Success Rate of Initial {sup 131I} Ablation in Differentiated Thyroid Cancer: Comparison Between Less strict and Very Strict Low Iodine Diets

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Ik Dong; Kim, Sung Hoon; Seo, Ye Young; Oh, Jin Kyoung; O, Joo Hyun; Chung, Soo Kyo [The Catholic Univ. of Korea, Seoul (Korea, Republic of)

    2012-03-15

    To decrease the risk of recurrence or metastasis in differentiated thyroid cancer (DTC), selected patients receive radioactive iodine ablation of remnant thyroid tissue or tumor. A low iodine diet can enhance uptake of radioactive iodine. We compared the success rates of radioactive iodine ablation therapy in patients who followed two different low iodine diets (LIDs). The success rates of postsurgical radioactive iodine ablation in DTC patients receiving empiric doses of 150 mCi were retrospectively reviewed. First-time radioactive iodine ablation therapy was done in 71 patients following less strict LID. Less strict LID restricted seafood, iodized salt, egg yolk, dairy products, processed meat, instant prepared meals, and multivitamins. Very strict LID additionally restricted rice, freshwater fish, spinach, and soybean products. Radioactive iodine ablation therapy was considered successful when follow up {sup 123I} whole body scan was negative and stimulated serum thyroglobulin level was less than 2.0 ng/mL. The success rate of patients following less strict LID was 80.3% and for very strict LID 75.6%. There was no statistically significant difference in the success rates between the two LID groups (P=0.48). Very strict LID may not contribute to improving the success rate of initial radioactive iodine ablation therapy at the cost of great inconvenience to the patient.

  19. Molecular autopsy in victims of inherited arrhythmias

    Directory of Open Access Journals (Sweden)

    Christopher Semsarian, MBBS, PhD, MPH

    2016-10-01

    Full Text Available Sudden cardiac death (SCD is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS, Brugada syndrome (BrS, catecholaminergic polymorphic ventricular tachycardia (CPVT, and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM. In up to 40% of young SCD victims (defined as 1–40 years old, excluding sudden unexplained death in infancy from 0 to 1 years, referred to as SIDS, no cause of death is identified at postmortem [so-called “autopsy negative” or “sudden arrhythmic death syndrome” (SADS]. Management of families following a SCD includes the identification of the cause of death, based either on premorbid clinical details or the pathological findings at the postmortem. When no cause of death is identified, genetic testing of DNA extracted from postmortem tissue (the molecular autopsy may identify a cause of death in up to 30% of SADS cases. Targeted clinical testing in a specialized multidisciplinary clinic in surviving family members combined with the results from genetic testing, provide the optimal setting for the identification of relatives who may be at risk of having the same inherited heart disease and are therefore also predisposed to an increased risk of SCD.

  20. Asymmetric inheritance of cytoophidia in Schizosaccharomyces pombe

    Directory of Open Access Journals (Sweden)

    Jing Zhang

    2014-10-01

    Full Text Available A general view is that Schizosaccharomyces pombe undergoes symmetric cell division with two daughter cells inheriting equal shares of the content from the mother cell. Here we show that CTP synthase, a metabolic enzyme responsible for the de novo synthesis of the nucleotide CTP, can form filamentous cytoophidia in the cytoplasm and nucleus of S. pombe cells. Surprisingly, we observe that both cytoplasmic and nuclear cytoophidia are asymmetrically inherited during cell division. Our time-lapse studies suggest that cytoophidia are dynamic. Once the mother cell divides, the cytoplasmic and nuclear cytoophidia independently partition into one of the two daughter cells. Although the two daughter cells differ from one another morphologically, they possess similar chances of inheriting the cytoplasmic cytoophidium from the mother cell, suggesting that the partition of cytoophidium is a stochastic process. Our findings on asymmetric inheritance of cytoophidia in S. pombe offer an exciting opportunity to study the inheritance of metabolic enzymes in a well-studied model system.

  1. SWJ:39-42 Inheritance of Pod Colour in Cowpea INHERITANCE

    African Journals Online (AJOL)

    Dr. Ahmed

    Mustapha & Singh (2008) SWJ:39-42. Inheritance of Pod Colour in Cowpea. INHERITANCE OF POD COLOUR IN. COWPEA (Vigna unguiculata (L.) WALP). * MUSTAPHA, Y1. & SINGH, B. B2. 1 Department of Biological Sciences. Bayero University, Kano Nigeria. 2 Department of Genetics and Plant breeding,. G.B. Pant ...

  2. Transgenerational epigenetic inheritance: an open discussion.

    Science.gov (United States)

    Nagy, Corina; Turecki, Gustavo

    2015-08-01

    Much controversy surrounds the idea of transgenerational epigenetics. Recent papers argue that epigenetic marks acquired through experience are passed to offspring, but as in much of the field of epigenetics, there is lack of precision in the definitions and perhaps too much eagerness to translate animal research to humans. Here, we review operational definitions of transgenerational inheritance and the processes of epigenetic programing during early development. Subsequently, based on this background, we critically examine some recent findings of studies investigating transgenerational inheritance. Finally, we discuss possible mechanisms that may explain transgenerational inheritance, including transmission of an epigenetic blueprint, which may predispose offspring to specific epigenetic patterning. Taken together, we conclude that presently, the evidence suggesting that acquired epigenetic marks are passed to the subsequent generation remains limited.

  3. Genetics of Inherited Arrhythmias in Children

    Directory of Open Access Journals (Sweden)

    Maully J. Shah

    2008-05-01

    Full Text Available Over the past two decades, breakthroughs in basic science have revealed the genetic etiology for several inherited arrhythmias. Onset of arrhythmias often commences in childhood and adolescence. The aim of the article is to provide a succinct overview of the genetic background of diseases that may cause life threatening arrhythmias in children and provide a description of reported genotype-phenotype relationships. Inherited channelopathies, namely, those causing long QT syndrome, short QT syndrome, catecholamine sensitive ventricular polymorphic ventricular tachycardia and Brugada syndrome and two cardiomyopathies (hypertrophic and arrhythmogenic right ventricular dysplasia associated with ventricular arrhythmias are discussed.

  4. Validation of an automatic diagnosis of strict left bundle branch block criteria using 12-lead electrocardiograms

    DEFF Research Database (Denmark)

    Xia, Xiaojuan; Ruwald, Anne-Christine; Ruwald, Martin H

    2017-01-01

    AIMS: Strict left bundle branch block (LBBB) criteria were recently proposed to identify LBBB patients to benefit most from cardiac resynchronization therapy (CRT). The aim of our study was to automate identification of strict LBBB in order to facilitate its broader application. METHODS: We devel...

  5. 7 CFR 28.416 - Strict Good Ordinary Light Spotted Color.

    Science.gov (United States)

    2010-01-01

    ... CONTAINER REGULATIONS COTTON CLASSING, TESTING, AND STANDARDS Standards Light Spotted Cotton § 28.416 Strict Good Ordinary Light Spotted Color. Strict Good Ordinary Light Spotted Color is color which in spot or... Cotton Source: 57 FR 34498, Aug. 5, 1992, unless otherwise noted. ...

  6. Genetic testing for inheritable cardiac channelopathies.

    Science.gov (United States)

    Szepesváry, Eszter; Kaski, Juan Pablo

    2016-05-01

    Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype-phenotype correlations, and summarizes genetic testing for inheritable cardiac channelopathies.

  7. Rethinking inheritance, yet again: inheritomes, contextomes and ...

    Indian Academy of Sciences (India)

    2015-09-15

    Sep 15, 2015 ... There are now some studies that use the framework of quantitative genetics or the Price equation to ..... textome and not as inheritance in our narrower usage. Of course, changes made to an individual's ... omes are more plastic than genomes typically are, since the former are subject to a greater variety of ...

  8. Anaesthesia in children with inherited neuromuscular diseases

    OpenAIRE

    Simić Dušica; Bogićević Dragana; Milojević Irina; Budić Ivana; Marković Marija

    2010-01-01

    Children with inherited neuromuscular diseases often require anaesthesia for diagnostic or therapy procedures. These patients have an increased risk of perioperative complications due to the nature of the disease and medications administered during anaesthesia. Many anaesthetics and muscle relaxants can aggravate the underlying disease and trigger life-threatening reactions (cardiorespiratory complications, malignant hyperthermia). Besides, the neuromuscular disorders are associated wit...

  9. Rethinking inheritance, yet again: inheritomes, contextomes and ...

    Indian Academy of Sciences (India)

    2015-09-15

    Sep 15, 2015 ... itance (epigenetic, ecological, behavioural and symbolic), there have been relatively few studies trying to integrate the different forms of inheritance into a common conceptual structure, a development that would be important to formal- ize elements of the extended evolutionary synthesis. Here, we propose ...

  10. INHERITANCE OF PIGMENTATION PATTERNS IN TALINUM ...

    African Journals Online (AJOL)

    Biologia Plantarum42, 621-624. Maekawa, M. 1996. Recent information on anthocyanin pigmentation. Rice Genetics. Newsletter13, 25-26. Mustapha, Y. 2007. Inheritance of flower colour in cowpea (Vigna unguiculata (L.) Walp). International Journal of Pure and Applied. Sciences1(1), 10-19. Nya, E.J. and Eka M.J. 2007.

  11. Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies

    NARCIS (Netherlands)

    Gerard, X.; Garanto Iglesias, A.; Rozet, J.M.; Collin, R.W.J.

    2016-01-01

    Inherited retinal dystrophies (IRDs) are an extremely heterogeneous group of genetic diseases for which currently no effective treatment strategies exist. Over the last decade, significant progress has been made utilizing gene augmentation therapy for a few genetic subtypes of IRD, although several

  12. Genetic instability in inherited and sporadic leukemias.

    Science.gov (United States)

    Popp, Henning D; Bohlander, Stefan K

    2010-12-01

    Genetic instability due to increased DNA damage and altered DNA repair is of central significance in the initiation and progression of inherited and sporadic human leukemias. Although very rare, some inherited DNA repair insufficiency syndromes (e.g., Fanconi anemia, Bloom's syndrome) have added substantially to our understanding of crucial mechanisms of leukemogenesis in recent years. Conversely, sporadic leukemias account for the main proportion of leukemias and here DNA damaging reactive oxygen species (ROS) play a central role. Although the exact mechanisms of increased ROS production remain largely unknown and no single pathway has been detected thus far, some oncogenic proteins (e.g., the activated tyrosine kinases BCR-ABL1 and FLT3-ITD) seem to play a key role in driving genetic instability by increased ROS generation which influences the disease course (e.g., blast crisis in chronic myeloid leukemia or relapse in FLT3-ITD positive acute myeloid leukemia). Of course other mechanisms, which promote genetic instability in leukemia also exist. A newly emerging mechanism is the genome-wide alteration of epigenetic marks (e.g., hypomethylation of histone H3K79), which promotes chromosomal instability. Taken together genetic instability plays a critical role both in inherited and sporadic leukemias and emerges as a common theme in both inherited and sporadic leukemias. Beyond its theoretical impact, the analysis of genetic instability may lead the way to the development of innovative therapy strategies. © 2010 Wiley-Liss, Inc.

  13. Legal Inheritance in the Republic of Kosovo

    Directory of Open Access Journals (Sweden)

    Dr.Sc. Hamdi Podvorica

    2011-06-01

    Full Text Available Legal inheritance is one of the most important institutions of inheritance law which regulates the process of legal transition of property of the decedent to one or several heirs. The establish-ment of the legal framework has brought about new reforms to the Inheritance Law. This has enabled the enrichment and functio-ning of the law. A particularly important step was taken towards regulation of legal procedures regarding to how courts, other or-gans and other persons should act regarding inheritance issues. Concretization of the legal authorizations of bodies authorized to enforce the procedure of processing hereditary property has estab-lished the legal basis for realization of the iso jure principle, accor-ding to which, at the moment of death of the person, the heirs gain the right of inheritance and the hereditary property is never left without a titleholder. This is a great advantage that we have noted in undertaking this analysis of the norms in this work, because leaving hereditary property for a longer period of time without a titleholder would render the property vulnerable to des-truction, theft and extermination. The goal of this paper is to avoid focusing only on finding the positive sides of the normative regulation of the legal inheritance process, but also in finding practical deficiencies that are weighing down at the moment on this important process in Kosovo, and in proposing measures for overcoming them. The dark side of the legal inheritance process is linked to the inefficiency of courts and the still fragile legal system in Kosovo. By implementing empirical methods, we have come to the con-clusion that the low number of judges in proportion with the huge number of cases has become a key liability for practical implemen-tation of the principle of initiating the legal procedure ex officio. The failure in enforcing this principle and initiating the procedu-res for processing of hereditary property by courts, even though they

  14. Evaluation of a strict protocol approach in managing women with severe disease due to hypertension in pregnancy: A before and after study

    Directory of Open Access Journals (Sweden)

    Backer Fèbè

    2005-09-01

    Full Text Available Abstract Background To evaluate whether the introduction of a strict protocol based on the systemic evaluation of critically ill pregnant women with complications of hypertension affected the outcome of those women. Method Study group: Indigent South African women managed in the tertiary hospitals of the Pretoria Academic Complex. Since 1997 a standard definition of women with severe acute maternal morbidity (SAMM, also referred to as a Nearmiss, has been used in the Pretoria Academic Complex. All cases of SAMM and maternal deaths (MD were entered on the Maternal Morbidity and Mortality Audit System programme (MaMMAS. A comparison of outcome of severely ill women who had complications of hypertension in pregnancy was performed between 1997–1998 (original protocol and 2002–2003 (strict protocol. Data include women referred from outside the Pretoria Academic Complex area to the tertiary hospitals. Results Between 1997–1998 there were 79 women with SAMM and 18 maternal deaths due to complications of hypertension, compared with 91 women with SAMM and 13 maternal deaths in 2002–2003. The mortality index (MI declined from 18.6% to 12.5% (OR 0.62, 95% CI 0.27–1.45. Statistically significant fewer women had renal failure (RR 0.37, 95% CI 0.21 – 0.66 and cerebral complications (RR 0.52, 95%CI 0.34 – 0.81 during the second period, and liver dysfunction (RR 0.27 95%CI 0.06 – 1.25 tended to be lower. However, there tended to be an increase in the number of women, who had immune system failure (RR 4.2 95%CI 0.93 – 18.94 and respiratory failure (RR 1.42 95%CI 0.88 – 2.29 although it did not reach significance. Cardiac failure remained constant (RR 0.84 95%CI 0.54 – 1.30. Conclusion The strict protocol approach based on the systemic evaluation of severely ill pregnant women with complications of hypertension and an intensive, regular feedback mechanism has been associated with a reduction in the number of patients with renal failure and

  15. Analysis of Mendelian inheritance and genetic linkage in microsatellite loci of Eucalyptus urophylla S.T. Blake.

    Science.gov (United States)

    Pupin, S; Rosse, L N; Souza, I C G; Cambuim, J; Marino, C L; Moraes, M L T; Sebbenn, A M

    2017-08-17

    Eucalyptus urophylla is an important species in the Brazilian forest sector due to its rapid growth rates and resistance to disease. The aim of this study was to verify Mendelian inheritance, genetic linkage, and genotypic disequilibrium for 15 microsatellite loci, with the goal of producing a robust set of genetic markers. Mendelian inheritance and genetic linkage analyses were carried out using genotypes from maternal trees, and their open-pollinated seeds and genotypic disequilibrium were assessed using adult trees. By comparing heterozygous maternal genotypes and their seeds, we found no significant deviations from the expected 1:1 Mendelian segregation and the expected 1:1:1:1 segregation hypothesis for pairwise loci. For adult trees, we did not find strong evidence of genotypic imbalance for pairwise loci. Our results indicated that the analyzed set of microsatellite loci could be used to carry out analyses of genetic diversity, mating system, and parentage in E. urophylla.

  16. Synchronization control of cross-strict feedback hyperchaotic system based on cross active backstepping design

    International Nuclear Information System (INIS)

    Wang Jing; Gao Jinfeng; Ma Xikui

    2007-01-01

    This Letter presents a novel cross active backstepping design method for synchronization control of cross-strict feedback hyperchaotic system, in which the ordinary backstepping design is unavailable. The proposed control method, combining backstepping design and active control approach, extends the application of backstepping technique in chaos control. Based on this method, different combinations of controllers can be designed to meet the needs of different applications. The proposed method is applied to achieve chaos synchronization of two identical cross-strict feedback hyperchaotic systems. Also it is used to implement synchronization between cross-strict feedback hyperchaotic system and Roessler hyperchaotic system. Numerical examples illustrate the validity of the control method

  17. Novel approaches for diagnosing inherited platelet disorders.

    Science.gov (United States)

    Bastida Bermejo, José María; Hernández-Rivas, Jesús María; González-Porras, José Ramón

    2017-01-20

    Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost. This technology has improved the molecular characterisation of inherited platelet disorders and has been implemented in the research studies and the clinical routine practice. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  18. [Inheritance and innovation of traditional processing technology of Chinese medicine].

    Science.gov (United States)

    Yang, Ming; Zhong, Ling-Yun; Xue, Xiao; Liu, Rong-Hua; Gong, Qian-Feng

    2016-02-01

    To discuss the inheritance and innovation study of Chinese medicine processing technology from three aspects: inheritance, standardization and industrial innovation development, propose "three lacks" in inheritance, "six lacks of standardization, and one lack of unity" in standardization, and "three emphasizing and three despising aspects" in industrial innovation, and propose feasible solutions for the above mentioned problems, providing a good foundation for inheritance and innovation of Chinese medicine processing. Copyright© by the Chinese Pharmaceutical Association.

  19. The intriguing complexity of parthenogenesis inheritance in Pilosella rubra (Asteraceae, Lactuceae).

    Science.gov (United States)

    Rosenbaumová, Radka; Krahulcová, Anna; Krahulec, František

    2012-09-01

    Neither the genetic basis nor the inheritance of apomixis is fully understood in plants. The present study is focused on the inheritance of parthenogenesis, one of the basic elements of apomixis, in Pilosella (Asteraceae). A complex pattern of inheritance was recorded in the segregating F(1) progeny recovered from reciprocal crosses between the facultatively apomictic hexaploid P. rubra and the sexual tetraploid P. officinarum. Although both female and male reduced gametes of P. rubra transmitted parthenogenesis at the same rate in the reciprocal crosses, the resulting segregating F(1) progeny inherited parthenogenesis at different rates. The actual transmission rates of parthenogenesis were significantly correlated with the mode of origin of the respective F(1) progeny class. The inheritance of parthenogenesis was significantly reduced in F(1) n + n hybrid progeny from the cross where parthenogenesis was transmitted by female gametes. In F(1) n + 0 polyhaploid progeny from the same cross, however, the transmission rate of parthenogenesis was high; all fertile polyhaploids were parthenogenetic. It appeared that reduced female gametes transmitting parthenogenesis preferentially developed parthenogenetically and only rarely were fertilized in P. rubra. The fact that the determinant for parthenogenesis acts gametophytically in Pilosella and the precocious embryogenesis in parthenogenesis-transmitting megagametophytes was suggested as the most probable explanations for this observation. Furthermore, we observed the different expression of complete apomixis in the non-segregating F(1) 2n + n hybrids as compared to their apomictic maternal parent P. rubra. We suggest that this difference is a result of unspecified interactions between the parental genomes.

  20. A Regulatory RNA Inducing Transgenerationally Inherited Phenotypes

    DEFF Research Database (Denmark)

    Jensen, Lea Møller

    . The variation in Arabidopsis enables different regulatory networks and mechanisms to shape the phenotypic characteristics. The thesis describes the identification of regulatory RNA encoded by an enzyme encoding gene. The RNA regulates by inducing transgenerationally inherited phenotypes. The function of the RNA...... is dependent on the genetic background illustrating that polymorphisms are found in either interactors or target genes of the RNA. Furthermore, the RNA provides a mechanistic link between accumulation of glucosinolate and onset of flowering....

  1. The Effect of Strict Segregation on Pseudomonas aeruginosa in Cystic Fibrosis Patients

    NARCIS (Netherlands)

    van Mansfeld, Rosa; de Vrankrijker, Angelica; Brimicombe, Roland; Heijerman, Harry; Teding van Berkhout, Ferdinand; Spitoni, Cristian|info:eu-repo/dai/nl/304625957; Grave, Sanne; van der Ent, Cornelis; Wolfs, Tom; Willems, Rob; Bonten, Marc

    2016-01-01

    INTRODUCTION: Segregation of patients with cystic fibrosis (CF) was implemented to prevent chronic infection with epidemic Pseudomonas aeruginosa strains with presumed detrimental clinical effects, but its effectiveness has not been carefully evaluated. METHODS: The effect of strict segregation on

  2. Strict deformation quantization for actions of a class of symplectic lie groups

    International Nuclear Information System (INIS)

    Bieliavsky, Pierre; Massar, Marc

    2002-01-01

    We present explicit universal strict deformation quantization formulae for actions of Iwasawa subgroups AN of SN(1, n). This answers a question raised by Rieffel in [Contemp. Math. 228 (1998), 315]. (author)

  3. Inherited ichthyosis: Non-syndromic forms.

    Science.gov (United States)

    Takeichi, Takuya; Akiyama, Masashi

    2016-03-01

    Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. This review focuses on updates for each type of non-syndromic ichthyosis, highlighting molecular mechanisms and phenotype/genotype correlations. Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma) and three of the minor subtypes (self-healing collodion baby, acral self-healing collodion baby and bathing suit ichthyosis). Keratinopathic ichthyosis is proposed as an umbrella term for ichthyoses caused by mutations in keratin genes. Next-generation sequencing technologies have become powerful tools for the diagnosis of inherited ichthyoses and the discovery of their genetic causes. This article reviews the current understanding of molecular pathomechanisms for non-syndromic ichthyoses and explores future perspectives. © 2016 Japanese Dermatological Association.

  4. Flower Colour Inheritance in Nicotiana alata (Solanaceae) and its ...

    African Journals Online (AJOL)

    Flower Colour Inheritance in Nicotiana alata (Solanaceae) and its Use as a Genetic Marker for Gene Flow Studies. ... Abstract. In Nicotiana alata, flower colour inheritance has followed Mendelian inheritance with dark colours being dominant over lighter colours. Reciprocal crosses concluded the absence of the cytoplasm ...

  5. Strict optical orthogonal codes for purely asynchronous code-division multiple-access applications

    Science.gov (United States)

    Zhang, Jian-Guo

    1996-12-01

    Strict optical orthogonal codes are presented for purely asynchronous optical code-division multiple-access (CDMA) applications. The proposed code can strictly guarantee the peaks of its cross-correlation functions and the sidelobes of any of its autocorrelation functions to have a value of 1 in purely asynchronous data communications. The basic theory of the proposed codes is given. An experiment on optical CDMA systems is also demonstrated to verify the characteristics of the proposed code.

  6. Plant use in the medicinal practices known as "strict diets" in Chazuta valley (Peruvian Amazon).

    Science.gov (United States)

    Sanz-Biset, Jaume; Cañigueral, Salvador

    2011-09-01

    Strict diets are traditional medicinal practices where plant remedies are consumed with nearly fasting and with some sort of social seclusion. The aim of this work was to describe these practices of Chazuta and the use of plants within, as well as to analyse the possible functions of the last. The information was obtained through interviews to the 6.3% of the district rural adult population (140 individuals, 75% of which was considered Quechua). In total, 122 strict diets were recorded and 106 different plant species were reported to be used. Strict diets present a characteristic structure and plant use. The main effects reported in strict diets were antinflammatory, antiinfective, brain function alteration and depuration. Strict diets are well structured traditional medicinal practices, also with a symbolic significance in the life cycle of chazutian men. Plants used in strict diets can contribute to the main effects through antinflammation, antiinfective actions, psychoactivity and depurative related activities. The correlation between literature evidence of activity of most used plants and effects reported for the correspondent diet (i.e. in which the plant was used) are 36% for antinflammatory activity, 29% for antimicrobial activity, 18% for psychoactivity and 5% for depurative related activities. The percentages go to 77%, 64%, 73% and 32%, respectively, when literature evidences on related taxa are also considered. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  7. Differentiating views of inheritance : The free association task as a method to assess social representations of wealth, inherit, and bequeath

    NARCIS (Netherlands)

    Stark, Jennifer; Kogler, C.; Gaisbauer, Helmut; Sedmak, Clemens; Kirchler, Erich

    2016-01-01

    Inheritance and in particular inheritance taxes have emerged as topics of steadily increasing interest in public as well as scientific discourse and debate. The present study investigates laypeople’s differentiated social representations of inheritance with the aim of shedding light on distinct

  8. The effect of inherited thrombophilia on second trimester combined aneuploidy screening test markers.

    Science.gov (United States)

    Cıkman, Muzaffer Seyhan; Seckin, Kerem Doga; Karslı, Mehmet Fatih; Baser, Eralp; Cıkman, Duygu Ilke; Cicek, Mahmut Nedim

    2015-04-01

    To determine whether inherited thrombophilia affects components of second trimester combined aneuploidy screening test. A case-control study was performed between 1 December 2010 and 1 February 2012, at a tertiary referral hospital. Singleton pregnancies with inherited thrombophilia that underwent second trimester (16-19(+6) week) combined aneuploidy screening test were included in the study. Maternal serum alfa fetoprotein, unconjugated estriol, human chorionic gonadotropin levels and multiple of median (MoM) levels were compared between the study group and controls. Within the study period, 18,943 women with singleton pregnancies had a combined second trimester aneuploidy screening test at our institution. Among these, 26 women met the criteria of thrombophilia. A control group that comprised 275 women with similar gestational age was generated, using a 1:1 ratio. Unconjugated estriol MoM levels were significantly lower in women with inherited thrombophilia (p = 0.02). But there was no statistically significant difference for unconjugated estriol levels, human chorionic gonadotropin, alfa fetoprotein and their MoM levels. Our study suggest that in patients with hereditary thrombophilia a new correction factor should be used, when calculating unconjugated estriol MoM value, which is one of the markers of second trimester aneuploidy screening test.

  9. Extending the SSCLI to Support Dynamic Inheritance

    Science.gov (United States)

    Redondo, Jose Manuel; Ortin, Francisco; Perez-Schofield, J. Baltasar Garcia

    This paper presents a step forward on a research trend focused on increasing runtime adaptability of commercial JIT-based virtual machines, describing how to include dynamic inheritance into this kind of platforms. A considerable amount of research aimed at improving runtime performance of virtual machines has converted them into the ideal support for developing different types of software products. Current virtual machines do not only provide benefits such as application interoperability, distribution and code portability, but they also offer a competitive runtime performance.

  10. Depicting educational content repurposing context and inheritance.

    Science.gov (United States)

    Kaldoudi, Eleni; Dovrolis, Nikolas; Konstantinidis, Stathis Th; Bamidis, Panagiotis D

    2011-01-01

    Educational content is often shared among different educators and is enriched, adapted, and, in general, repurposed so that it can be reused in different contexts. This paper discusses educational content and content repurposing in medical education, presenting different repurposing contexts. Finally, it proposes a novel approach to content repurposing via Web 2.0 social networking of learning resources. The proposed social network is augmented by a graphical representation module in order to capture and depict the relationships among different repurposed medical educational resources, based on educational resource "families" and inheritance. The ultimate goal is to provide a conceptually different approach to educational resource organization and retrieval via "social" associations among learning resources.

  11. Actions of a separately strict cpo-monoid on pointed directed complete posets

    Directory of Open Access Journals (Sweden)

    Halimeh Moghbeli Damaneh

    2015-07-01

    Full Text Available ‎ In the present article‎, ‎we study some categorical properties of the category {$bf‎ Cpo_{Sep}$-$S$} of all {separately strict $S$-cpo's}; cpo's equipped with‎ a compatible right action of a separately strict cpo-monoid $S$ which is‎ strict continuous in each component‎. ‎In particular‎, we show that this category is reflective and coreflective in the‎ category of $S$-cpo's‎, ‎find the free and cofree functors‎, characterize products and coproducts‎. ‎Furthermore‎, ‎epimorphisms and‎  monomorphisms in {$bf Cpo_{Sep}$-$S$} are studied‎, ‎and show that‎ {$bf Cpo_{Sep}$-$S$} is not cartesian closed‎.

  12. Neuromuscular imaging in inherited muscle diseases

    International Nuclear Information System (INIS)

    Wattjes, Mike P.; Kley, Rudolf A.; Fischer, Dirk

    2010-01-01

    Driven by increasing numbers of newly identified genetic defects and new insights into the field of inherited muscle diseases, neuromuscular imaging in general and magnetic resonance imaging (MRI) in particular are increasingly being used to characterise the severity and pattern of muscle involvement. Although muscle biopsy is still the gold standard for the establishment of the definitive diagnosis, muscular imaging is an important diagnostic tool for the detection and quantification of dystrophic changes during the clinical workup of patients with hereditary muscle diseases. MRI is frequently used to describe muscle involvement patterns, which aids in narrowing of the differential diagnosis and distinguishing between dystrophic and non-dystrophic diseases. Recent work has demonstrated the usefulness of muscle imaging for the detection of specific congenital myopathies, mainly for the identification of the underlying genetic defect in core and centronuclear myopathies. Muscle imaging demonstrates characteristic patterns, which can be helpful for the differentiation of individual limb girdle muscular dystrophies. The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases. We also provide diagnostic algorithms that might guide us through the differential diagnosis in hereditary myopathies. (orig.)

  13. Neuromuscular imaging in inherited muscle diseases

    Energy Technology Data Exchange (ETDEWEB)

    Wattjes, Mike P. [VU University Medical Center, Department of Radiology, De Boelelaan 1117, HV, Amsterdam (Netherlands); Kley, Rudolf A. [Klinken Bergmannsheil, Ruhr-University, Department of Neurology, Neuromuscular Centre Ruhrgebiet, Bochum (Germany); Fischer, Dirk [University Hospital of Basel, Department of Neurology, Basel (Switzerland); University Children' s Hospital Basel, Department of Neuropaediatrics, Basel (Switzerland)

    2010-10-15

    Driven by increasing numbers of newly identified genetic defects and new insights into the field of inherited muscle diseases, neuromuscular imaging in general and magnetic resonance imaging (MRI) in particular are increasingly being used to characterise the severity and pattern of muscle involvement. Although muscle biopsy is still the gold standard for the establishment of the definitive diagnosis, muscular imaging is an important diagnostic tool for the detection and quantification of dystrophic changes during the clinical workup of patients with hereditary muscle diseases. MRI is frequently used to describe muscle involvement patterns, which aids in narrowing of the differential diagnosis and distinguishing between dystrophic and non-dystrophic diseases. Recent work has demonstrated the usefulness of muscle imaging for the detection of specific congenital myopathies, mainly for the identification of the underlying genetic defect in core and centronuclear myopathies. Muscle imaging demonstrates characteristic patterns, which can be helpful for the differentiation of individual limb girdle muscular dystrophies. The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases. We also provide diagnostic algorithms that might guide us through the differential diagnosis in hereditary myopathies. (orig.)

  14. Digenic Inheritance in Cystinuria Mouse Model

    Science.gov (United States)

    Espino, Meritxell; Font-Llitjós, Mariona; Vilches, Clara; Salido, Eduardo; Prat, Esther; López de Heredia, Miguel; Palacín, Manuel; Nunes, Virginia

    2015-01-01

    Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria type A, whereas mutations in SLC7A9, which encodes the light subunit b0,+AT, cause cystinuria type B. By crossing Slc3a1-/- with Slc7a9-/- mice we generated a type AB cystinuria mouse model to test digenic inheritance of cystinuria. The 9 genotypes obtained have been analyzed at early (2- and 5-months) and late stage (8-months) of the disease. Monitoring the lithiasic phenotype by X-ray, urine amino acid content analysis and protein expression studies have shown that double heterozygous mice (Slc7a9+/-Slc3a1+/-) present lower expression of system b0,+ and higher hyperexcretion of cystine than single heterozygotes (Slc7a9+/-Slc3a1+/+ and Slc7a9+/+Slc3a1+/-) and give rise to lithiasis in 4% of the mice, demonstrating that cystinuria has a digenic inheritance in this mouse model. Moreover in this study it has been demonstrated a genotype/phenotype correlation in type AB cystinuria mouse model providing new insights for further molecular and genetic studies of cystinuria patients. PMID:26359869

  15. Digenic Inheritance in Cystinuria Mouse Model.

    Directory of Open Access Journals (Sweden)

    Meritxell Espino

    Full Text Available Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria type A, whereas mutations in SLC7A9, which encodes the light subunit b0,+AT, cause cystinuria type B. By crossing Slc3a1-/- with Slc7a9-/- mice we generated a type AB cystinuria mouse model to test digenic inheritance of cystinuria. The 9 genotypes obtained have been analyzed at early (2- and 5-months and late stage (8-months of the disease. Monitoring the lithiasic phenotype by X-ray, urine amino acid content analysis and protein expression studies have shown that double heterozygous mice (Slc7a9+/-Slc3a1+/- present lower expression of system b0,+ and higher hyperexcretion of cystine than single heterozygotes (Slc7a9+/-Slc3a1+/+ and Slc7a9+/+Slc3a1+/- and give rise to lithiasis in 4% of the mice, demonstrating that cystinuria has a digenic inheritance in this mouse model. Moreover in this study it has been demonstrated a genotype/phenotype correlation in type AB cystinuria mouse model providing new insights for further molecular and genetic studies of cystinuria patients.

  16. [Mitochondria inheritance in yeast saccharomyces cerevisiae].

    Science.gov (United States)

    Fizikova, A Iu

    2011-01-01

    The review is devoted to the main mechanisms of mitochondria inheritance in yeast Saccharonmyces cerevisiae. The genetic mechanisms of functionally active mitochondria inheritance in eukaryotic cells is one of the most relevant in modem researches. A great number of genetic diseases are associated with mitochondria dysfunction. Plasticity of eukaryotic cell metabolism according to the environmental changes is ensured by adequate mitochondria functioning by means of ATP synthesis coordination, reactive oxygen species accumulation, apoptosis regulation and is an important factor of cell adaptation to stress. Mitochondria participation in important for cell vitality processes masters the presence of accurate mechanisms of mitochondria functions regulation according to environment fluctuations. The mechanisms of mitochondria division and distribution are highly conserved. Baker yeast S. cerevisiae is an ideal model object for mitochondria researches due to energetic metabolism lability, ability to switch over respiration to fermentation, and petite-positive phenotype. Correction of metabolism according to the environmental changes is necessary for cell vitality. The influence of respiratory, carbon, amino acid and phosphate metabolism on mitochondria functions was shown. As far as the mechanisms that stabilize functions of mitochondria and mtDNA are highly conserve, we can project yeast regularities on higher eukaryotes systems. This makes it possible to approximate understanding the etiology and pathogenesis of a great number of human diseases.

  17. The photon is no strict particle and nonlocality is far from being proven

    Energy Technology Data Exchange (ETDEWEB)

    Greulich, Karl Otto [Fritz Lipmann Institut, Jena (Germany)

    2010-07-01

    Two aspects of philosophical discussions on physics are the wave particle dualism and non locality including entanglement. However the strict particle aspect of the photon, in the common sense view, has never been proven. The accumulation time argument, the only experimental verification of a strictly particle like photon, has so far not yet been satisfied. Also, experiments thought to prove nonlocality have loophole which have so far not yet been safely closed, and now an even more serious loophole emerges. Thus, also nonlocality cannot be seen as proven. This demands some fine tuning of philosophical discussions on critical experiments in physics.

  18. Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects.

    Science.gov (United States)

    Zaghlool, Shaza B; Al-Shafai, Mashael; Al Muftah, Wadha A; Kumar, Pankaj; Gieger, Christian; Waldenberger, Melanie; Falchi, Mario; Suhre, Karsten

    2016-01-01

    Environmentally influenced phenotypes, such as obesity and insulin resistance, can be transmitted over multiple generations. Epigenetic modifications, such as methylation of DNA cytosine-guanine (CpG) pairs, may be carriers of inherited information. At the population level, the methylation state of such "heritable" CpG sites is expected to follow a trimodal distribution, and their mode of inheritance should be Mendelian. Using the Illumina Infinium 450 K DNA methylation array, we determined DNA CpG-methylation in blood cells from a family cohort 123 individuals of Arab ethnicity, including 18 elementary father-mother-child trios, we asked whether Mendelian inheritance of CpG methylation is observed, and most importantly, whether it is independent of any genetic signals. Using 40× whole genome sequencing, we therefore excluded all CpG sites with possibly confounding genetic variants (SNP) within the binding regions of the Illumina probes. We identified a total of 955 CpG sites that displayed a trimodal distribution and confirmed trimodality in a study of 1805 unrelated Caucasians. Of 955 CpG sites, 99.9% observed a strict Mendelian pattern of inheritance and had no SNP within +/-110 nucleotides of the CpG site by design. However, in 97% of these cases a distal cis-acting SNP within a +/-1 Mbp window was found that explained the observed CpG distribution, excluding the hypothesis of epigenetic inheritance for these clear-cut trimodal sites. Using power analysis, we showed that in 46% of all cases, the closest CpG-associated SNP was located more than 1000 bp from the CpG site. Our findings suggest that CpG methylation is maintained over larger genomic distances. Furthermore, nearly half of the SNPs associated with these trimodal sites were also associated with the expression of nearby genes ( P  = 4.08 × 10 -6 ), implying a regulatory effect of these trimodal CpG sites.

  19. More strictly protected areas are not necessarily more protective: evidence from Bolivia, Costa Rica, Indonesia, and Thailand

    International Nuclear Information System (INIS)

    Ferraro, Paul J; Hanauer, Merlin M; Miteva, Daniela A; Pattanayak, Subhrendu K; Canavire-Bacarreza, Gustavo Javier; Sims, Katharine R E

    2013-01-01

    National parks and other protected areas are at the forefront of global efforts to protect biodiversity and ecosystem services. However, not all protection is equal. Some areas are assigned strict legal protection that permits few extractive human uses. Other protected area designations permit a wider range of uses. Whether strictly protected areas are more effective in achieving environmental objectives is an empirical question: although strictly protected areas legally permit less anthropogenic disturbance, the social conflicts associated with assigning strict protection may lead politicians to assign strict protection to less-threatened areas and may lead citizens or enforcement agents to ignore the strict legal restrictions. We contrast the impacts of strictly and less strictly protected areas in four countries using IUCN designations to measure de jure strictness, data on deforestation to measure outcomes, and a quasi-experimental design to estimate impacts. On average, stricter protection reduced deforestation rates more than less strict protection, but the additional impact was not always large and sometimes arose because of where stricter protection was assigned rather than regulatory strictness per se. We also show that, in protected area studies contrasting y management regimes, there are y 2 policy-relevant impacts, rather than only y, as earlier studies have implied. (letter)

  20. A study of cephalometric appraisal of the inheritance of craniofacial pattern in Gorkhas

    Directory of Open Access Journals (Sweden)

    Mehta O

    2008-09-01

    Full Text Available The phenotypic expression of biologic variability expressed in the craniofacial complex is influenced by constant interplay of heredity and environmental factors. The aim of this study was to observe the pattern of inheritance of cranio-facial complex in Gorkhas. Gorkhas are the original inhabitants of NEPAL in the slopes of HIMALAYAS and they generally marry strictly in their race. 76 individuals from 19 Gorkha families (son, daughter and both parents; were selected. Eight angular (saddle angle, articular angle, gonial angle, N-S-Gn, N-S-Go, SNA, SNB and ANB angles and four linear (anterior facial height, posterior facial height, overjet and overbite variables were measured from lateral head cephalograms and the values of the variables were evaluated and compared. It was found that the Inheritance of cranio facial pattern has shown significant coefficient of correlation from mother to offsprings for jarabak ratio, father to son for NS-Gn and NS-Go angle, father to daughter for articular and ANB angles. Different parts of craniofacial complex represents the resultant of morphology and size variation. Each one of these components are in turn influenced by many genetic and environmental factors.

  1. Features of Accepting the Inheritance under the Private International Law

    Directory of Open Access Journals (Sweden)

    Victoria A. Kosovskaya

    2016-09-01

    Full Text Available The article describes the features of acceptance of the inheritance when a hereditary legal relationship goes beyond a single state. The author analyzes the legal and practical ways of accepting the inheritance, as well as studied as possible acceptance of the inheritance. Paying special attention to conflict of laws rules of hereditary relations. In conclusion, the author concludes that the law enforcers in the regulation of genetic relationships beyond one state, may face many challenges arising in this area.

  2. Mechanisms of Uniparental Mitochondrial DNA Inheritance in Cryptococcus neoformans

    Science.gov (United States)

    Gyawali, Rachana

    2011-01-01

    In contrast to the nuclear genome, the mitochondrial genome does not follow Mendelian laws of inheritance. The nuclear genome of meiotic progeny comes from the recombination of both parental genomes, whereas the meiotic progeny could inherit mitochondria from one, the other, or both parents. In fact, one fascinating phenomenon is that mitochondrial DNA in the majority of eukaryotes is inherited from only one particular parent. Typically, such unidirectional and uniparental inheritance of mitochondrial DNA can be explained by the size of the gametes involved in mating, with the larger gamete contributing towards mitochondrial DNA inheritance. However, in the human fungal pathogen Cryptococcus neoformans, bisexual mating involves the fusion of two isogamous cells of mating type (MAT) a and MATα, yet the mitochondrial DNA is inherited predominantly from the MATa parent. Although the exact mechanism underlying such uniparental mitochondrial inheritance in this fungus is still unclear, various hypotheses have been proposed. Elucidating the mechanism of mitochondrial inheritance in this clinically important and genetically amenable eukaryotic microbe will yield insights into general mechanisms that are likely conserved in higher eukaryotes. In this review, we highlight studies on Cryptococcus mitochondrial inheritance and point out some important questions that need to be addressed in the future. PMID:22783110

  3. Emulating Multiple Inheritance in Fortran 2003/2008

    Directory of Open Access Journals (Sweden)

    Karla Morris

    2015-01-01

    in Fortran 2003. The design unleashes the power of the associated class relationships for modeling complicated data structures yet avoids the ambiguities that plague some multiple inheritance scenarios.

  4. Strict Monotonicity and Unique Continuation for the Third-Order Spectrum of Biharmonic Operator

    Directory of Open Access Journals (Sweden)

    Khalil Ben Haddouch

    2012-01-01

    Full Text Available We will study the spectrum for the biharmonic operator involving the laplacian and the gradient of the laplacian with weight, which we call third-order spectrum. We will show that the strict monotonicity of the eigenvalues of the operator , where , holds if some unique continuation property is satisfied by the corresponding eigenfunctions.

  5. "Let the Master Respond": Should Schools Be Strictly Liable When Employees Sexually Abuse Children?

    Science.gov (United States)

    Fossey, Richard; DeMitchell, Todd

    Although sexual abuse against children is a problem in the public schools, school officials have generally not acted aggressively to stop it. This paper argues for a strict liability standard--the assessment of liability without fault--against a school district in cases of student sexual abuse by a school employee. Part 1 explores the principle of…

  6. Detection of low numbers of microplastics in North Sea fish using strict quality assurance criteria

    NARCIS (Netherlands)

    Hermsen, E.; Pompe, R.; Besseling, E.; Koelmans, A.A.

    2017-01-01

    We investigated 400 individual fish of four North Sea species: Atlantic Herring, Sprat, Common Dab, and Whiting on ingestion of > 20 μm microplastic. Strict quality assurance criteria were followed in order to control contamination during the study. Two plastic particles were found in only 1 (a

  7. History, administration, goals, values, and long-term data of Russia's strictly protected scientific nature reserves

    Science.gov (United States)

    Martin A. Spetich; Anna E. Kvashnina; Y.D. Nukhimovskya; Olin E. Jr. Rhodes

    2009-01-01

    One of the most comprehensive attempts at biodiversity conservation in Russia and the former Soviet Union has been the establishment of an extensive network of protected natural areas. Among all types of protected areas in Russia, zapovedniks (strictly protected scientific preserve) have been the most effective in protecting biodiversity at the ecosystem scale. Russia...

  8. The Preventive Effect of Strict Gun Control Laws on Suicide and Homicide.

    Science.gov (United States)

    Lester, David; Murrell, Mary E.

    1982-01-01

    Examined state gun control laws and used a multidimensional scaling technique to study the relationship of strictness and death rates. Results showed states with stricter laws had lower suicide rates by firearms but higher rates by other means. No effect on homicide was found. (JAC)

  9. Inherited renal tubular defects with hypokalemia

    Directory of Open Access Journals (Sweden)

    Muthukrishnan J

    2009-01-01

    Full Text Available Bartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity. Clinical features and associated calcium and magnesium ion abnormalities are used to diagnose these cases after excluding other commoner causes. We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, hypokalemia and hypercalciuria and was diagnosed as having Bartter′s syndrome. The second patient is a lady who had recurrent tetany as the only manifestation of Gitelman′s syndrome, which is an unusual presentation. Potassium replacement with supplementation of other deficient ions led to satisfactory clinical and biochemical response.

  10. Inheritance from low-level radioactive waste

    International Nuclear Information System (INIS)

    Yanagisawa, Kazuaki; Kume, Tamikazu; Makuuchi, Keizo; Inoue, Tomio; Komoda, Fumio; Maeda, Mitsuru

    2009-01-01

    A benefit born as an inheritance from low-level radioactive waste is considered. In the present study, a direct economic scale of application of radiation in Japanese industry, agriculture and medicine is taken as parameter for quantifying the size of benefit. In 2006, the economic scale is about 21 billion dollars (b$) for industry, 2.5b$ for agriculture and 14b$ for medicine. Economic scale covered the all fields is totaled 37b$. Due to those benefit, one can drive a car and play an internet, pleasure the dinning food. Diagnosis and treatment by nuclear medicine can possible to survive the millions of lives and resulting in improving the quality of life, decreasing pain and suffering. However, most Japanese (80%>) may not aware those benefits to date. This report is prepared for aiming at disseminating those benefits to our peoples. (author)

  11. Dominantly inherited isolated hyperparathyroidism: a syndromic association?

    International Nuclear Information System (INIS)

    Kozlowski, K.; Czerminska-Kowalska, A.; Kulczycka, H.; Rowinska, E.; Pronicka, E.

    1999-01-01

    Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six members of a family with distinctive phenotype and DIIH. Limited systemic symptoms and severe radiographic osteitis fibrosa cystica were further unusual features in this family. The diagnosis of DIIH was made only after a 9-year-old girl developed hypercalcaemic crisis after a pathological femoral fracture. Distinctive phenotype, unusual clinical course and unparalleled radiographic changes suggest a not yet described syndromic association. (orig.)

  12. Inheritance of egusi seed type in watermelon.

    Science.gov (United States)

    Gusmini, G; Wehner, T C; Jarret, R L

    2004-01-01

    An unusual seed mutant in watermelon (Citrullus lanatus var. lanatus) has seeds with a fleshy pericarp, commonly called egusi seeds. The origin of the phenotype is unknown, but it is widely cultivated in Nigeria for the high protein and carbohydrate content of the edible seeds. Egusi seeds have a thick, fleshy pericarp that appears during the second to third week of fruit development. We studied the inheritance of this phenotype in crosses of normal seeded Charleston Gray and Calhoun Gray with two plant introduction accessions, PI 490383w and PI 560006, having the egusi seed type. We found that the egusi seed type is controlled by a single recessive gene, and the symbol eg was assigned. Copyright 2004 The American Genetic Association

  13. Recent advances in genetic testing and counseling for inherited arrhythmias

    Directory of Open Access Journals (Sweden)

    Yuka Mizusawa, MD

    2016-10-01

    This article discusses indications for genetic testing of patients with inherited arrhythmias. Further, it describes the benefits and challenges that we face in the era of next generation sequencing. Finally, it briefly discusses genetic counseling, in which a multidisciplinary approach is required due to the increased complexity of the genetic information related to inherited arrhythmias.

  14. Women's Inheritance Rights and Intergenerational Transmission of Resources in India

    Science.gov (United States)

    Deininger, Klaus; Goyal, Aparajita; Nagarajan, Hari

    2013-01-01

    We use inheritance patterns over three generations of individuals to assess the impact of changes in the Hindu Succession Act that grant daughters equal coparcenary birth rights in joint family property that were denied to daughters in the past. We show that the amendment significantly increased daughters' likelihood to inherit land, but that…

  15. 26 CFR 1.102-1 - Gifts and inheritances.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 2 2010-04-01 2010-04-01 false Gifts and inheritances. 1.102-1 Section 1.102-1 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Items Specifically Excluded from Gross Income § 1.102-1 Gifts and inheritances...

  16. Proceedings of the Inheritance Workshop at ECOOP 2002

    DEFF Research Database (Denmark)

    2002-01-01

    The Inheritance Workshop at ECOOP 2002, which took place on Tuesday, 11 June, was the first ECOOP workshop focusing on inheritance after the successful workshops in 1991 and 1992. The workshop was intended as a forum for designers and implementers of object-oriented languages, and for software de...

  17. Cardiac sodium channels and inherited electrophysiologic disorders: a pharmacogenetic overview

    NARCIS (Netherlands)

    Smits, Jeroen P. P.; Blom, Marieke T.; Wilde, Arthur A. M.; Tan, Hanno L.

    2008-01-01

    Sodium (Na) channels are essential for cardiac electrical activity. Cardiac Na channel dysfunction, inherited or acquired, can induce life-threatening conduction and arrhythmia disorders. Inherited Na channel dysfunction may put affected patients at a greater risk for these complications when

  18. Statutory Law, Patriarchy and Inheritance: Home ownership among ...

    African Journals Online (AJOL)

    inheritance customs, which in many cases discriminate against women. While one would expect the inheritance statutory law to protect the widow, instead it supports the cultural image ideology that encourages male dominance. The intestate succession law guarantees the widow only the user rights to the matrimonial ...

  19. What Programmers do with Inheritance in Java and C#

    NARCIS (Netherlands)

    B. Brekelmans

    2014-01-01

    htmlabstractInheritance is a widely used concept in modern object oriented software engineering. Previous studies show that inheritance is widely used in practice yet empirical data about how it is used in practice is scarce. An empirical study into this subject has been done by Tempero, Yang and

  20. Channelopathies - emerging trends in the management of inherited arrhythmias

    NARCIS (Netherlands)

    Chockalingam, Priya; Mizusawa, Yuka; Wilde, Arthur A. M.

    2015-01-01

    In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young) adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and

  1. Inheritance of Early Maturity in Some Cowpea (Vigna unguiculata (L. Walp. Genotypes under Rain Fed Conditions in Northern Ghana

    Directory of Open Access Journals (Sweden)

    Emmanuel Yaw Owusu

    2018-01-01

    Full Text Available A field experiment was conducted at Savanna Agricultural Research Institute in 2015 cropping season to examine the inheritance of early maturity among an extra-early maturing landrace Sanzi and a medium maturing variety Padi-Tuya and their progenies. The results indicated highly significant (P0.05 were observed between F1 and RF1, implying absence of maternal effect. The segregation ratio in the F2 population for early and medium maturity fitted into the ratio 3 : 1, indicating single dominant gene mode of inheritance. Significant positive correlations were found between DNPM, DFFI, DFF, and DFPM; hence selection criteria to improve early maturity of cowpea should focus on these traits. Grain yield also had significant positive correlations with maturity indices indicating high grain yield is associated with late maturity; therefore, high grain yield should be considered alongside early maturity when selecting progenies for earliness.

  2. Maternal and foetal outcome in gestational diabetes.

    Science.gov (United States)

    Qadir, Saima Yasmin; Yasmin, Tayyaba; Fatima, Iffat

    2012-01-01

    Gestational diabetes is impaired carbohydrate metabolism first diagnosed in pregnancy. Knowledge of diabetes dates back to centuries before Christ. Objective was to describe maternal complications during antenatal period and Maternal and neonatal outcome in gestational diabetes mellitus. This Descriptive observational study was conducted at Department of Obstetrics and Gynaecology, Alhada Military Hospital, Taif, KSA. It was done during January-December 2009 to measure maternal and neonatal outcome. Hundred pregnant women diagnosed through glucose tolerance test as diabetic were enrolled as study subjects. All the subjects were enrolled and followed regularly at Obstetric and Gynaecology out-patient Department of Alhada Military Hospital, Taif. Blood glucose level was controlled either by diet or by diet and insulin. Study subjects were hospitalised for adjustment of dose of insulin and for management of complications. Foetal well being was assessed by kick count, cardiotocography and ultrasound. Time and mode of delivery was decided at 36 week of gestation. Intra-partum maternal blood glucose level was monitored and foetal monitoring was done by cardiotocography. Total numbers of women delivered were 2,858. Hundred cases of diabetes mellitus during pregnancy were studied. Eighty-eight patients were above 25 years of age, multiparous ladies with gestational diabetes in 76% of cases. Insulin was required in 64% of patients. Polyhydramnios was most common maternal complication. Two out of 100 had spontaneous miscarriage; 14 underwent preterm delivery while 84 reached term with two intrauterine death. Caesarean section was carried out in 58 patients. Total number of babies delivered alive were 92. There were 4 neonatal deaths. Hyperbilirubinemia was the most common neonatal complication. It was concluded that early detection, constant supervision, strict glycaemic control, delivery with intensive intrapartum monitoring and facilities of expert neonatologist can result

  3. Maternal KIR in combination with paternal HLA-C2 regulate human birth weight.

    Science.gov (United States)

    Hiby, Susan E; Apps, Richard; Chazara, Olympe; Farrell, Lydia E; Magnus, Per; Trogstad, Lill; Gjessing, Håkon K; Carrington, Mary; Moffett, Ashley

    2014-06-01

    Human birth weight is subject to stabilizing selection; babies born too small or too large are less likely to survive. Particular combinations of maternal/fetal immune system genes are associated with pregnancies where the babies are ≤ 5th birth weight centile, specifically an inhibitory maternal KIR AA genotype with a paternally derived fetal HLA-C2 ligand. We have now analyzed maternal KIR and fetal HLA-C combinations at the opposite end of the birth weight spectrum. Mother/baby pairs (n = 1316) were genotyped for maternal KIR as well as fetal and maternal HLA-C. Presence of a maternal-activating KIR2DS1 gene was associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p = 0.005, n = 1316). Effect of KIR2DS1 was most significant in pregnancies where its ligand, HLA-C2, was paternally but not maternally inherited by a fetus (p = 0.005, odds ratio = 2.65). Thus, maternal KIR are more frequently inhibitory with small babies but activating with big babies. At both extremes of birth weight, the KIR associations occur when their HLA-C2 ligand is paternally inherited by a fetus. We conclude that the two polymorphic immune gene systems, KIR and HLA-C, contribute to successful reproduction by maintaining birth weight between two extremes with a clear role for paternal HLA.

  4. A Criterium for the Strict Positivity of the Density of the Law of a Poisson Process

    Directory of Open Access Journals (Sweden)

    Léandre Rémi

    2011-01-01

    Full Text Available We translate in semigroup theory our result (Léandre, 1990 giving a necessary condition so that the law of a Markov process with jumps could have a strictly positive density. This result express, that we have to jump in a finite number of jumps in a "submersive" way from the starting point to the end point if the density of the jump process is strictly positive in . We use the Malliavin Calculus of Bismut type of (Léandre, (2008;2010 translated in semi-group theory as a tool, and the interpretation in semi-group theory of some classical results of the stochastic analysis for Poisson process as, for instance, the formula giving the law of a compound Poisson process.

  5. The effect of 8 days of strict bed rest on the incretin effect in healthy volunteers

    DEFF Research Database (Denmark)

    Nielsen, Signe Tellerup; Harder-Lauridsen, Nina Majlund; Benatti, Fabiana Braga

    2016-01-01

    in the levels of GLP-1 and Glucagon. Bed rest led to a mean loss of 2.4 kg of fat-free mass, and induced insulin resistance evaluated by the Matsuda index, but did not affect the incretin effect (P = 0.6). In conclusion, 8 days of bed rest induces insulin resistance, but we did not see evidence of an associated......Bed rest and physical inactivity are the consequences of hospital admission for many patients. Physical inactivity induces changes in glucose metabolism, but its effect on the incretin effect, which is reduced in, e.g., Type 2 diabetes, is unknown. To investigate how 8 days of strict bed rest...... affects the incretin effect, 10 healthy nonobese male volunteers underwent 8 days of strict bed rest. Before and after the intervention, all volunteers underwent an oral glucose tolerance test (OGTT) followed by an intravenous glucose infusion (IVGI) on the following day to mimic the blood glucose profile...

  6. Detection of low numbers of microplastics in North Sea fish using strict quality assurance criteria.

    Science.gov (United States)

    Hermsen, Enya; Pompe, Renske; Besseling, Ellen; Koelmans, Albert A

    2017-09-15

    We investigated 400 individual fish of four North Sea species: Atlantic Herring, Sprat, Common Dab, and Whiting on ingestion of >20μm microplastic. Strict quality assurance criteria were followed in order to control contamination during the study. Two plastic particles were found in only 1 (a Sprat) out of 400 individuals (0.25%, with a 95% confidence interval of 0.09-1.1%). The particles were identified to consist of polymethylmethacrylate (PMMA) through FTIR spectroscopy. No contamination occurred during the study, showing the method applied to be suitable for microplastic ingestion studies in biota. We discuss the low particle count for North Sea fish with those in other studies and suggest a relation between reported particle count and degree of quality assurance applied. Microplastic ingestion by fish may be less common than thought initially, with low incidence shown in this study, and other studies adhering to strict quality assurance criteria. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. A strict anaerobic extreme thermophilic hydrogen-producing culture enriched from digested household waste

    DEFF Research Database (Denmark)

    Karakashev, Dimitar Borisov; Kotay, Shireen Meher; Trably, Eric

    2009-01-01

    sources. Growth on glucose produced acetate, H-2 and carbon dioxide. Maximal H-2 production rate on glucose was 1.1 mmol l(-1) h(-1) with a maximum H-2 yield of 1.9 mole H-2 per mole glucose. 16S ribosomal DNA clone library analyses showed that the culture members were phylogenetically affiliated......The aim of this study was to enrich, characterize and identify strict anaerobic extreme thermophilic hydrogen (H-2) producers from digested household solid wastes. A strict anaerobic extreme thermophilic H-2 producing bacterial culture was enriched from a lab-scale digester treating household...... wastes at 70 degrees C. The enriched mixed culture consisted of two rod-shaped bacterial members growing at an optimal temperature of 80 degrees C and an optimal pH 8.1. The culture was able to utilize glucose, galactose, mannose, xylose, arabinose, maltose, sucrose, pyruvate and glycerol as carbon...

  8. A Hybrid P2P Overlay Network for Non-strictly Hierarchically Categorized Content

    Science.gov (United States)

    Wan, Yi; Asaka, Takuya; Takahashi, Tatsuro

    In P2P content distribution systems, there are many cases in which the content can be classified into hierarchically organized categories. In this paper, we propose a hybrid overlay network design suitable for such content called Pastry/NSHCC (Pastry for Non-Strictly Hierarchically Categorized Content). The semantic information of classification hierarchies of the content can be utilized regardless of whether they are in a strict tree structure or not. By doing so, the search scope can be restrained to any granularity, and the number of query messages also decreases while maintaining keyword searching availability. Through simulation, we showed that the proposed method provides better performance and lower overhead than unstructured overlays exploiting the same semantic information.

  9. Weak asymptotic solution for a non-strictly hyperbolic system of conservation laws-II

    Directory of Open Access Journals (Sweden)

    Manas Ranjan Sahoo

    2016-04-01

    Full Text Available In this article we introduce a concept of entropy weak asymptotic solution for a system of conservation laws and construct the same for a prolonged system of conservation laws which is highly non-strictly hyperbolic. This is first done for Riemann type initial data by introducing $\\delta,\\delta',\\delta''$ waves along a discontinuity curve and then for general initial data by piecing together the Riemann solutions.

  10. Multiple-Set Split Feasibility Problems for κ-Strictly Pseudononspreading Mapping in Hilbert Spaces

    Directory of Open Access Journals (Sweden)

    Jing Quan

    2013-01-01

    Full Text Available The purpose of this paper is to prove some weak and strong convergence theorems for solving the multiple-set split feasibility problems for κ-strictly pseudononspreading mapping in infinite-dimensional Hilbert spaces by using the proposed iterative method. The main results presented in this paper extend and improve the corresponding results of Xu et al. (2006, of Osilike et al. (2011, and of many other authors.

  11. Multiobjective Optimization for the Forecasting Models on the Base of the Strictly Binary Trees

    OpenAIRE

    Nadezhda Astakhova; Liliya Demidova; Evgeny Nikulchev

    2016-01-01

    The optimization problem dealing with the development of the forecasting models on the base of strictly binary trees has been considered. The aim of paper is the comparative analysis of two optimization variants which are applied for the development of the forecasting models. Herewith the first optimization variant assumes the application of one quality indicator of the forecasting model named as the affinity indicator and the second variant realizes the application of two quality indicators ...

  12. Cannabis legalization with strict regulation, the overall superior policy option for public health.

    Science.gov (United States)

    Rehm, J; Fischer, B

    2015-06-01

    Cannabis is the most prevalently used drug globally, with many jurisdictions considering varying reform options to current policies to deal with this substance and associated harm. Three policy options are available: prohibition, decriminalization, and legalization, with prohibition currently the dominant model globally. This contribution gives reasons why legalization with strict regulation should be considered superior to other options with respect to public health in high income countries in North America. © 2015 ASCPT.

  13. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

    Science.gov (United States)

    Chuang, Louise; Wakui, Keiko; Sue, Whey-Chen; Su, Mei-Hsu; Shaffer, Lisa G; Kuo, Pao-Lin

    2005-03-01

    We report a family with inherited Potocki-Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki-Shaffer syndrome. The deleted region in our case-11p11.12p11.2-is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki-Shaffer syndrome. (c) 2005 Wiley-Liss, Inc.

  14. Genetics of inherited primary arrhythmia disorders

    Directory of Open Access Journals (Sweden)

    Spears DA

    2015-09-01

    Full Text Available Danna A Spears, Michael H Gollob Division of Cardiology – Electrophysiology, University Health Network, Toronto General Hospital, Toronto, ON, Canada Abstract: A sudden unexplained death is felt to be due to a primary arrhythmic disorder when no structural heart disease is found on autopsy, and there is no preceding documentation of heart disease. In these cases, death is presumed to be secondary to a lethal and potentially heritable abnormality of cardiac ion channel function. These channelopathies include congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and short QT syndrome. In certain cases, genetic testing may have an important role in supporting a diagnosis of a primary arrhythmia disorder, and can also provide prognostic information, but by far the greatest strength of genetic testing lies in the screening of family members, who may be at risk. The purpose of this review is to describe the basic genetic and molecular pathophysiology of the primary inherited arrhythmia disorders, and to outline a rational approach to genetic testing, management, and family screening. Keywords: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, short QT syndrome, genetics

  15. Empowering international canine inherited disorder management.

    Science.gov (United States)

    Wilson, Bethany J; Wade, Claire M

    2012-02-01

    The mapping of the canine genome and the study of canine breed genomic architecture has revolutionized the discovery of genetic tests for inherited disorders in dogs. As the genetics underlying complex disorders are revealed, canine breeders and their registering organisations will be required to understand genetics in a much more sophisticated way. To facilitate the management of genetic disorders in the era of new complex information, we consider how best to apply the results of new research and analytical techniques to benefit the wider canine breeding community with the aims of improving canine health and maintaining benevolent genetic diversity. If this is not done, there is a serious risk that expensive and valuable genetic research will remain unused or be misused to the detriment of breeds. In this review, we make a case for the formation of an international organisation that will exist as a central repository for breed-based genetic analysis and information sharing. This organisation ("Inter-Dog") could be modelled on a similar organisation that is monitoring genetic improvement of dairy cattle. The formation of such an organisation will require the collaboration of international kennel management organisations, researchers, and agencies offering genetic testing services.

  16. Beyond the simplicity of Mendelian inheritance.

    Science.gov (United States)

    Schacherer, Joseph

    2016-01-01

    Elucidating the underlying rules that govern the phenotypic diversity observed in natural populations is an old but still unaccomplished goal in biology. In 1865, Gregor Mendel paved the way for the dissection of the underlying genetic basis of traits by setting out to understand the principles of heredity. To date, we still lack a global overview of the spectrum and continuum existing between Mendelian and complex traits within any natural population. In this respect, we recently performed a species-wide survey of Mendelian traits across a large population of isolates using the yeast Saccharomyces cerevisiae. By analyzing the distribution and the inheritance patterns of the trait, we have clearly shown that monogenic mutations can display a significant, variable, and continuous expressivity across different genetic backgrounds. Our study also demonstrated that combining the elegancy of both classical genetics and high-throughput genomics is more than valuable to dissect the genotype-phenotype relationship in natural populations. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  17. Inheritance of in vitro response in wheat

    Directory of Open Access Journals (Sweden)

    Mitić Nevena

    2004-01-01

    Full Text Available The inheritance of in vitro culture response was studied by using immature embryos from five wheat cultivars and their reciprocal hybrids. In vitro culture response was evaluated according to callus formation, percentage of regenerative calli and the number of plants per embryo. By crossing the cultivar Vesna (VS with highest tissue culture response and the two cultivars with lowest response Leda (LD and Zajecarska 65 (ZA, it was demonstrated that the regeneration potential was heritable. VS as female parent, enhanced regeneration response in hybrids VSxLD and VSxZA, while as a male parent, VS did not affect the regeneration ability of hybrids LD and ZA. However, hybrids having LD and ZA as a male parents exhibited a decreased regeneration potential, as compared to self-pollinated VS. The results suggest the presence of a class of extra-nuclear factors in the VS cultivar. They significantly account for relatively higher regeneration capacity in the hybrids having this cultivar as a female parent than in those where the VS was male parent.

  18. Preimplantation genetic diagnosis of inherited disease.

    Science.gov (United States)

    Ao, A

    1996-12-01

    Research on diagnosis of inherited disease in human embryo before implantation was initiated to help those couples who would prefer to select embryos at this stage rather than during pregnancy. Following in vitro fertilization (IVF), one to two cells were removed from 3 day cleavage stage embryo and cells were analysed for genetic defects. Embryos diagnosed as unaffected were returned to the uterus and thus the resulting pregnancies were assured to be normal. First babies born after the preimplantation diagnosis were using DNA amplification of Y-linked sequences by PCR to avoid X-linked disease. Several pregnancies were obtained by identifying sex of embryos using dual fluorescent in situ hybridization (FISH) with fluorochrome labelled DNA sequences specific for X- and Y-chromosomes to interphase nuclei. Development of single cell PCR for single gene defects led to diagnose several genetic disorders. Preimplantation diagnosis was successfully achieved for predominant delta 508 deletion causing cystic fibrosis, and pregnancies were also diagnosed for Lesch-Nyhan syndrome, Tay-Sachs and Duchenne muscular dystrophy.

  19. Inheritance of peroxyacetyl nitrate resistance in petunia

    Energy Technology Data Exchange (ETDEWEB)

    De Vos, N.E.; Hill, R.R. Jr.; Hepler, R.W.; Pell, E.J.; Craig, R.

    1980-03-01

    The inheritance of peroxyacetyl nitrate (PAN) resistance in Petunia hybrida Vilm. was studied using the inbred parents of White Cascade, a susceptible F/sub 1/ hybrid, and Coral Magic, a resistant hybrid. In each of 6 experiments, 4-week-old plants of the parents, their reciprocal F/sub 1/ hybrids, the F/sub 2/ generation, and reciprocal backcross generations were simultaneously tested for PAN resistance. Plants were exposed to 742 ..mu..g/m/sup 3/ (0.15 ppm) PAN for 1.5 hours in a controlled environment chamber. The percent area of bifacial necrosis was determined for each leaf on a plant and an average was calculated to yield an injury rating. Significant genetic variation was detected in each experiment, but the best fitting genetic model varied among experiments, indicating large genotype by environment interaction. In the experiment with the most severe PAN injury, genes for susceptibility exhibited almost complete dominance to those for resistance and epistatic effects were not significant. In other experiments with lower levels of PAN injury, resistance was partially dominant to susceptibility and one or more epistatic parameters were significant. 17 references, 4 tables.

  20. Examination of the PCICE method in the nearly incompressible, as well as strictly incompressible, limits

    International Nuclear Information System (INIS)

    Berry, Ray A.; Martineau, Richard C.

    2007-01-01

    The conservative-form, pressure-based PCICE numerical method (Martineau and Berry, 2004) (Berry, 2006), recently developed for computing transient fluid flows of all speeds from very low to very high (with strong shocks), is simplified and generalized. Though the method automatically treats a continuous transition of compressibility, three distinct, limiting compressibility regimes are formally defined for purposes of discussion and comparison with traditional methods - the strictly incompressible limit, the nearly incompressible limit, and the fully compressible limit. The PCICE method's behavior is examined in each limiting regime. In the strictly incompressible limit the PCICE algorithm reduces to the traditional MAC-type method with velocity divergence driving the pressure Poisson equation. In the nearly incompressible limit the PCICE algorithm is found to reduce to a generalization of traditional incompressible methods, i.e. to one in which not only the velocity divergence effect, but also the density gradient effect is included as a driving function in the pressure Poisson equation. This nearly incompressible regime has received little attention, and it appears that in the past, strictly incompressible methods may have been conveniently applied to flows in this regime at the expense of ignoring a potentially important coupling mechanism. This could be significant in many important flows; for example, in natural convection flows resulting from high heat flux. In the fully compressible limit or regime, the algorithm is found to reduce to an expression equivalent to density-based methods for high-speed flow. (author)

  1. Frequency effect on p-nitrophenol degradation under conditions of strict acoustic and electric control

    Directory of Open Access Journals (Sweden)

    Chang-ping Zhu

    2011-03-01

    Full Text Available The process of decomposing p-nitrophenol (PNP with power ultrasound requires strict control of acoustic and electric conditions. In this study, the conditions, including acoustic power and acoustic intensity, but not ultrasonic frequency, were controlled strictly at constant levels. The absorbency and the COD concentrations of the samples were measured in order to show the variation of the sample concentration. The results show significant differences in the trend of the solution degradation rate as acoustic power increases after the PNP solution (with a concentration of 114 mg/L and a pH value of 5.4 is irradiated for 60 min with ultrasonic frequencies of 530.8 kHz, 610.6 kHz, 855.0 kHz, and 1 130.0 kHz. The degradation rate of the solution increases with time and acoustic power (acoustic intensity. On the other hand, the degradation rate of the solution is distinctly dependent on frequency when the acoustic power and intensity are strictly controlled and maintained at constant levels. The degradation rate of the PNP solution declines with ultrasonic frequencies of 530.8 kHz, 610.6 kHz, 855.0 kHz, and 1 130.0 kHz; the COD concentration, on the contrary, increase.

  2. TESTING STRICT HYDROSTATIC EQUILIBRIUM IN SIMULATED CLUSTERS OF GALAXIES: IMPLICATIONS FOR A1689

    International Nuclear Information System (INIS)

    Molnar, S. M.; Umetsu, K.; Chiu, I.-N.; Chen, P.; Hearn, N.; Broadhurst, T.; Bryan, G.; Shang, C.

    2010-01-01

    Accurate mass determination of clusters of galaxies is crucial if they are to be used as cosmological probes. However, there are some discrepancies between cluster masses determined based on gravitational lensing and X-ray observations assuming strict hydrostatic equilibrium (i.e., the equilibrium gas pressure is provided entirely by thermal pressure). Cosmological simulations suggest that turbulent gas motions remaining from hierarchical structure formation may provide a significant contribution to the equilibrium pressure in clusters. We analyze a sample of massive clusters of galaxies drawn from high-resolution cosmological simulations and find a significant contribution (20%-45%) from non-thermal pressure near the center of relaxed clusters, and, in accord with previous studies, a minimum contribution at about 0.1 R vir , growing to about 30%-45% at the virial radius, R vir . Our results strongly suggest that relaxed clusters should have significant non-thermal support in their core region. As an example, we test the validity of strict hydrostatic equilibrium in the well-studied massive galaxy cluster A1689 using the latest high-resolution gravitational lensing and X-ray observations. We find a contribution of about 40% from non-thermal pressure within the core region of A1689, suggesting an alternate explanation for the mass discrepancy: the strict hydrostatic equilibrium is not valid in this region.

  3. Impact of Genes and Proportional Contribution of Parental Genotypes to Inheritance of Root Yield and Sugar Content in Diploid Hybrids of Sugar Beet

    Directory of Open Access Journals (Sweden)

    Ivica Stancic

    2014-01-01

    Full Text Available This paper analyzes the impact of genes and proportional contribution of parental genotypes on the inheritance of root yield and sugar content in diploid hybrids of sugar beet. The survey included two diploid male-sterile monogerm lines and three single (SC male-sterile hybrids as maternal components, while three multigerm diploids were used as pollinators. The partitioning of genotypic variance into additive and dominant components was performed by half sibling (HS and full sibling (FS covariance. The proportional contribution of individual components of crossbreeding (lines, testers, and interactions was exhibited in the expression of certain characteristics of F1 generation. Genotypic variance components showed a significant effect of nonadditive gene action (dominance in the inheritance of root yield and sugar content, while the additive effect of genes was less significant. Maternal components had a greater proportional contribution to root yield, while lines, pollinators, and their interactions had an equal contribution to sugar content.

  4. Goodbye, Mandatory Maternity Leaves

    Science.gov (United States)

    Nation's Schools, 1972

    1972-01-01

    In precedent-setting decrees, courts and federal and State authorities have branded compulsory maternity leaves either unconstitutional or illegal. School administrators are urged to prod boards of education to adopt more lenient maternity leave policies -- now. (Author)

  5. No escape from mother's will : Effects of maternal testosterone on offspring reproductive behaviour far into adulthood

    NARCIS (Netherlands)

    Hsu, Bin-Yan; Dijkstra, Cor; Groothuis, Ton G. G.

    In many animal species, mothers expose their embryos to maternal hormones. This provides a powerful pathway for affecting offspring phenotype and a potential mechanism for adaptive nongenomic inheritance. This has been studied extensively in birds because the embryo develops outside the mother's

  6. Two unbalanced segregation products due to a maternal t(7;16)inv(16)

    NARCIS (Netherlands)

    Leegte, B; Sikkema-Raddatz, B; Hordijk, R; Davelaar, [No Value; Cobben, J; van der Veen, A.

    We report a prenatal case of a maternally inherited abnormal chromosome 16, originally interpreted as a pericentric inversion only, but after family studies re-interpreted as a pericentric inversion (16) accompanied by an unbalanced (7;16) translocation. Because of the inversion 16 and an elder son

  7. Giving Birth to Someone Else's Children? A Case of Disputed Maternity

    Science.gov (United States)

    Hutchison, Jessica

    2007-01-01

    Most students have heard about situations in which the paternity of a child is questioned; in a surprising reversal, in this case study, maternity is in question. Designed for an introductory biology course, the case involves concepts from genetics, inheritance, and the formation of pedigrees. Students develop hypotheses to explain how a mother…

  8. Maternity Protection at Work.

    Science.gov (United States)

    World of Work, 1998

    1998-01-01

    Discusses the need for maternity benefits for working women. Suggests that although most countries provide paid maternity leave by law, there is a gap between that law and practice. Includes a chart depicting maternity protection (length of leave, cash benefits, who pays) around the world. (JOW)

  9. Autosomal dominant inheritance of Caffey-Silverman disease. Hyperostosis corticalis infantum.

    Science.gov (United States)

    Rogóyski, A; Jakubowska, K; Tronowska, T D

    1984-01-01

    A case of Caffey-Silverman disease is described in an infant aged 4.5 months. The case was erroneously diagnosed in the initial stage of the disease as osteitis. The correct diagnosis was established after radiological examination of the skeleton. The pathological lesions involved the mandible, both clavicles, all ribs, left shoulder blade, both radial bones and left ulna. Follow-up radiological examination after 12 months demonstrated nearly complete disappearance of the previously observed skeletal changes. At the age of 18 months the condition of the child was good and its development was normal. Radiological changes indicating past Caffey-Silverman disease were disclosed in the mother and maternal grandmother of the child. This indicates an autosomal dominant type of inheritance of the disease.

  10. Searching for doubly uniparental inheritance of mtDNA in the apple snail Pomacea diffusa.

    Science.gov (United States)

    Parakatselaki, Maria Eleni; Saavedra, Carlos; Ladoukakis, Emmanuel D

    2016-11-01

    Doubly uniparental inheritance (DUI) of mitochondrial DNA (mtDNA) is an exceptional mode of mtDNA transmission, restricted so far to the class of bivalves. We searched for DUI outside bivalves using the apple snail Pomacea diffusa. It was an appropriate candidate to search for DUI for three reasons; it belongs to gastropods, which is the closest sister group to bivalves, it is gonochoristic and it has a strong sex bias in the progeny of different female individuals. These phenomena (gonochorism and sex-biased progeny) are also found in species with DUI. We searched for heteroplasmy in males and for high sequence divergence among mtDNA sequences obtained from male and female gonads. All sequences examined were identical. These data suggest that the mtDNA in P. diffusa is maternally transmitted and DUI remains an exclusive characteristic of bivalves.

  11. Cancer resistance as an acquired and inheritable trait

    DEFF Research Database (Denmark)

    Koch, Janne; Hau, Jann; Jensen, Henrik Elvang

    2014-01-01

    AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer c...... of the resistance is unknown but may involve epigenetic mechanisms. Other examples of inheritability of acquired phenotypic changes exist but, to our knowledge, this is the first demonstration of acquired, inherited cancer resistance.......AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer...... cells in BALB/c mice was induced by immunization with inactivated S180 cancer cells. The immunization was performed by either frozen/thawed or irradiated cancer cells or cell-free ascitic fluid (CFAF). RESULTS: In all instances the induced resistance was demonstrated to be inheritable. The phenotype...

  12. A screen of maternally inherited microbial endosymbionts in oribatid mites (Acari: Oribatida).

    Science.gov (United States)

    Konecka, Edyta; Olszanowski, Ziemowit

    2015-08-01

    We determined the distribution of microbial endosymbionts as possible agents of parthenogenesis in Oribatida. We screened mites from 20 species of 14 families suspected to be parthenogenetic from the absence or rarity of males. Our research included parthenogenesis-inducing bacteria Wolbachia spp., Cardinium spp., Rickettsia spp., and additionally Arsenophonus, Spiroplasma and microsporidia that can also manipulate host reproduction. We detected the endosymbionts by PCR-based methods and transmission electron microscopy (TEM) observation of fixed and stained preparations of host cells. We detected Wolbachia only in one Oribatida species, Oppiella nova, by identifying Wolbachia genes using PCR. TEM observations confirmed infection by the endosymbiont in O. nova and its lack in other Oribatida species. Sequence analysis of hcpA and fbpA genes showed that the Wolbachia strain from O. nova was different from strains characterized in some insects, crustaceans (Isopoda), mites (Tetranychidae), springtails (Hexapoda) and roundworms (Nematoda). The analysis strongly suggested that the Wolbachia sp. strain found in O. nova did not belong to supergroups A, B, C, D, E, F, H or M. We found that the sequences of Wolbachia from O. nova were clearly distantly related to sequences from the bacteria of the other supergroups. This observation makes O. nova a unique Wolbachia host in terms of the distinction of the strain. The role of these micro-organisms in O. nova remains unknown and is an issue to investigate.

  13. Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA

    DEFF Research Database (Denmark)

    Rebolledo-Jaramillo, Boris; Su, Marcia Shu-Wei; Stoler, Nicholas

    2014-01-01

    generations and estimated the effective size of the germ-line mtDNA bottleneck at only ∼30-35 (interquartile range from 9 to 141). Accounting for heteroplasmies, we estimated the mtDNA germ-line mutation rate at 1.3 × 10(-8) (interquartile range from 4.2 × 10(-9) to 4.1 × 10(-8)) mutations per site per year...

  14. Rate Control Efficacy in Permanent Atrial Fibrillation : Successful and Failed Strict Rate Control Against a Background of Lenient Rate Control

    NARCIS (Netherlands)

    Groenveld, Hessel F.; Tijssen, Jan G. P.; Crijns, Harry J. G. M.; Van den Berg, Maarten P.; Hillege, Hans L.; Alings, Marco; Van Veldhuisen, Dirk J.; Van Gelder, Isabelle C.

    2013-01-01

    Objectives This study sought to investigate differences in outcome between patients treated with successful strict, failed strict, and lenient rate control. Background The RACE II (Rate Control Efficacy in Permanent Atrial Fibrillation) study showed no difference in outcome between lenient and

  15. Influences of maternal overprotection.

    Science.gov (United States)

    Parker, G; Lipscombe, P

    1981-04-01

    While maternal overprotection appears associated with several neurotic and psychotic disorders, little is known about determinants of such a parental characteristic. Several hypotheses have been tested in a large nonclinical sample. Maternal and cultural factors seemed of greater relevance than characteristics in the child. Overprotective mothers gave evidence of marked maternal preoccupations before having children, of showing a capacity to be overprotective after the active stage of mothering, and of having personality characteristics of high anxiety, obsessionality and a need to control. Maternal overprotection appears associated with low, rather than with high maternal care. This has important primary prevention and treatment implications.

  16. Predictors of maternal responsiveness.

    Science.gov (United States)

    Drake, Emily E; Humenick, Sharron S; Amankwaa, Linda; Younger, Janet; Roux, Gayle

    2007-01-01

    To explore maternal responsiveness in the first 2 to 4 months after delivery and to evaluate potential predictors of maternal responsiveness, including infant feeding, maternal characteristics, and demographic factors such as age, socioeconomic status, and educational level. A cross-sectional survey design was used to assess the variables of maternal responsiveness, feeding patterns, and maternal characteristics in a convenience sample of 177 mothers in the first 2 to 4 months after delivery. The 60-item self-report instrument included scales to measure maternal responsiveness, self-esteem, and satisfaction with life as well as infant feeding questions and sociodemographic items. An online data-collection strategy was used, resulting in participants from 41 U.S. states. Multiple regression analysis showed that satisfaction with life, self-esteem, and number of children, but not breastfeeding, explained a significant portion of the variance in self-reported maternal responsiveness scores. In this analysis, sociodemographic variables such as age, education, income, and work status showed little or no relationship to maternal responsiveness scores. This study provides additional information about patterns of maternal behavior in the transition to motherhood and some of the variables that influence that transition. Satisfaction with life was a new predictor of maternal responsiveness. However, with only 15% of the variance explained by the predictors in this study, a large portion of the variance in maternal responsiveness remains unexplained. Further research in this area is needed.

  17. Strict versus liberal insulin therapy in the cardiac surgery patient: An evidence-based practice development, implementation and evaluation project.

    Science.gov (United States)

    Gordon, Jacqueline M; Lauver, Lori S; Buck, Harleah G

    2018-02-01

    Hyperglycemia post-cardiac surgery is associated with poor clinical outcomes. Recent studies suggest maintaining liberal glycemic control (liberal CII protocol. Retrospective review of 144 strict CII patient records and 147 liberal CII patient records. Mean blood glucose was 159.8mg/dL (liberal CII) compared to 143.3mg/dL (strict CII) (p≤0.001). No surgical site infections occurred in either group. Mean ICU length of stay was 4.5days (liberal) versus 4.4days (strict) (p=0.74). Two 30-day mortalities occurred for the liberal cohort compared to no deaths in the strict group (p=0.49). Hypoglycemia incidence within 24h after surgery was 0.1% (liberal) compared to 0.3% (strict) compared to (p=0.16). Use of a nurse managed liberal CII resulted in similar outcomes with fewer incidents of hypoglycemia. Copyright © 2017. Published by Elsevier Inc.

  18. Maternal Mortality in Texas.

    Science.gov (United States)

    Baeva, Sonia; Archer, Natalie P; Ruggiero, Karen; Hall, Manda; Stagg, Julie; Interis, Evelyn Coronado; Vega, Rachelle; Delgado, Evelyn; Hellerstedt, John; Hankins, Gary; Hollier, Lisa M

    2017-05-01

    A commentary on maternal mortality in Texas is provided in response to a 2016 article in Obstetrics & Gynecology by MacDorman et al. While the Texas Department of State Health Services and the Texas Maternal Mortality and Morbidity Task Force agree that maternal mortality increased sharply from 2010 to 2011, the percentage change or the magnitude of the increase in the maternal mortality rate in Texas differs depending on the statistical methods used to compute and display it. Methodologic challenges in identifying maternal death are also discussed, as well as risk factors and causes of maternal death in Texas. Finally, several state efforts currently underway to address maternal mortality in Texas are described. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  19. Effects of growth temperature and strictly anaerobic recovery on the survival of Listeria monocytogenes during pasteurization.

    Science.gov (United States)

    Knabel, S J; Walker, H W; Hartman, P A; Mendonca, A F

    1990-02-01

    Listeria monocytogenes F5069 was suspended in either Trypticase soy broth-0.6% yeast extract (TSBYE) or sterile, whole milk and heated at 62.8 degrees C in sealed thermal death time tubes. Severely heat-injured cells were recovered in TSBYE within sealed thermal death time tubes because of the formation of reduced conditions in the depths of the TSBYE. Also, the use of strictly anaerobic Hungate techniques significantly increased recovery in TSBYE containing 1.5% agar compared with aerobically incubated controls. The exogenous addition of catalase, but not superoxide dismutase, slightly increased the recovery of heat-injured cells in TSBYE containing 1.5% agar incubated aerobically. Growth of cells at 43 degrees C caused a greater increase in heat resistance as compared with cells heat shocked at 43 degrees C or cells grown at lower temperatures. Growth of L. monocytogenes at 43 degrees C and enumeration by the use of strictly anaerobic Hungate techniques resulted in D62.8 degrees C values that were at least sixfold greater than those previously obtained by using cells grown at 37 degrees C and aerobic plating. Results indicate that, under the conditions of the present study, high levels of L. monocytogenes would survive the minimum low-temperature, long-time treatment required by the U.S. Food and Drug Administration for pasteurizing milk. The possible survival of low levels of L. monocytogenes during high-temperature, short-time pasteurization and enumeration of injured cells by recovery on selective media under strictly anaerobic conditions are discussed.

  20. RelTime Rates Collapse to a Strict Clock When Estimating the Timeline of Animal Diversification.

    Science.gov (United States)

    Lozano-Fernandez, Jesus; Dos Reis, Mario; Donoghue, Philip C J; Pisani, Davide

    2017-05-01

    Establishing an accurate timescale for the history of life is crucial to understand evolutionary processes. For this purpose, relaxed molecular clock models implemented in a Bayesian MCMC framework are generally used. However, these methods are time consuming. RelTime, a non-Bayesian method implementing a fast, ad hoc, algorithm for relative dating, was developed to overcome the computational inefficiencies of Bayesian software. RelTime was recently used to investigate the timing of origin of animals, yielding results consistent with early strict clock studies from the 1980s and 1990s, estimating metazoans to have a Mesoproterozoic origin-over a billion years ago. RelTime results are unexpected and disagree with the largest majority of modern, relaxed, Bayesian molecular clock analyses, which suggest animals originated in the Tonian-Cryogenian (less that 850 million years ago). Here, we demonstrate that RelTime-inferred divergence times for the origin of animals are spurious, a consequence of the inability of RelTime to relax the clock along the internal branches of the animal phylogeny. RelTime-inferred divergence times are comparable to strict-clock estimates because they are essentially inferred under a strict clock. Our results warn us of the danger of using ad hoc algorithms making implicit assumptions about rate changes along a tree. Our study roundly rejects a Mesoproterozoic origin of animals; metazoans emerged in the Tonian-Cryogenian, and diversified in the Ediacaran, in the immediate prelude to the routine fossilization of animals in the Cambrian associated with the emergence of readily preserved skeletons. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  1. Effect of cryopreservation and lyophilization on viability and growth of strict anaerobic human gut microbes.

    Science.gov (United States)

    Bircher, Lea; Geirnaert, Annelies; Hammes, Frederik; Lacroix, Christophe; Schwab, Clarissa

    2018-04-17

    Strict anaerobic gut microbes have been suggested as 'next-generation probiotics' for treating several intestinal disorders. The development of preservation techniques is of major importance for therapeutic application. This study investigated cryopreservation (-80°C) and lyophilization survival and storage stability (4°C for 3 months) of the strict anaerobic gut microbes Bacteroides thetaiotaomicron, Faecalibacterium prausnitzii, Roseburia intestinalis, Anaerostipes caccae, Eubacterium hallii and Blautia obeum. To improve preservation survival, protectants sucrose and inulin (both 5% w/v) were added for lyophilization and were also combined with glycerol (15% v/v) for cryopreservation. Bacterial fitness, evaluated by maximum growth rate and lag phase, viability and membrane integrity were determined using a standardized growth assay and by flow cytometry as markers for preservation resistance. Lyophilization was more detrimental to viability and fitness than cryopreservation, but led to better storage stability. Adding sucrose and inulin enhanced viability and the proportion of intact cells during lyophilization of all strains. Viability of protectant-free B. thetaiotaomicron, A. caccae and F. prausnitzii was above 50% after cryopreservation and storage and increased to above 80% if protectants were present. The addition of glycerol, sucrose and inulin strongly enhanced the viability of B. obeum, E. hallii and R. intestinalis from 0.03-2% in protectant-free cultures to 11-37%. This is the first study that quantitatively compared the effect of cryopreservation and lyophilization and the addition of selected protectants on viability and fitness of six strict anaerobic gut microbes. Our results suggest that efficiency of protectants is process- and species-specific. © 2018 The Authors. Microbial Biotechnology published by John Wiley & Sons Ltd and Society for Applied Microbiology.

  2. THE TERMS OF INHERITANCE LAW IN RUSSIA-BYZANTIUM TREATIES AND RUSSKAYA PRAVDA: THE PROBLEMS OF FUNCTIONAL SEMANTICS AND DERIVATION RELATIONS

    Directory of Open Access Journals (Sweden)

    Kirzhaeva Vera Petrovna

    2014-12-01

    Full Text Available The article deals with the functional-and-semantic and derivational relations of the inheritance law terms in the Russia-Byzantium treaties and in Russkaya Pravda Legal Code as well as in the wide-spread Church Slavonic law regulators that appeared in Rus after adoption of Christianity. The research results attest that the inheritance law terminology in treaties includes designation of inheritance, will and heirs. There is a special term chast ('part' that denotes a share of inheritance in the Russkaya Pravda and Church Slavonic legal texts. However, chast as a 'part' (share is a characteristic of the Russkaya Pravda legal texts only. In Church Slavonic it is used in treaties for nominating the property in general. A similar lack of strict distribution between inheritance law terms zadnitsa and dom, presented in Old Russian texts, was noted in Church Slavonic treaties. Various derivatives of the root *rÌd- are used to denote the will in all texts under analysis; the terms pisati employed only in treaties and church law regulators to denote a written will or procedures of its preparation. The derivatives of the root *bliz- nominate the heirs in both text systems. A loan translation of the terminological word group malye / milye blizhnie / blizhiki dated to the year 911 is not viewed as a translators' experiment with the Greek terms, because it reflects a steady lexical distribution of adjectives malye / milye and the terms of relations in the Russian language. The results of the study testify some inheritance law terms correlation between Russia-Byzantium treaties, Russkaya Pravda and Church Slavonic legal texts, their translation in the treaties was not entirely artificial. The Church Slavonic and Old Russian terminological systems were open to these interferences in some ways.

  3. Effects of growth temperature and strictly anaerobic recovery on the survival of Listeria monocytogenes during pasteurization.

    OpenAIRE

    Knabel, S J; Walker, H W; Hartman, P A; Mendonca, A F

    1990-01-01

    Listeria monocytogenes F5069 was suspended in either Trypticase soy broth-0.6% yeast extract (TSBYE) or sterile, whole milk and heated at 62.8 degrees C in sealed thermal death time tubes. Severely heat-injured cells were recovered in TSBYE within sealed thermal death time tubes because of the formation of reduced conditions in the depths of the TSBYE. Also, the use of strictly anaerobic Hungate techniques significantly increased recovery in TSBYE containing 1.5% agar compared with aerobicall...

  4. The Dirichlet problem for the Monge-Ampere equation in convex (but not strictly convex domains

    Directory of Open Access Journals (Sweden)

    David Hartenstine

    2006-10-01

    Full Text Available It is well-known that the Dirichlet problem for the Monge-Amp`ere equation $det D^2 u = mu$ in a bounded strictly convex domain $Omega$ in $mathbb{R}^n$ has a weak solution (in the sense of Aleksandrov for any finite Borel measure $mu$ on $Omega$ and for any continuous boundary data. We consider the Dirichlet problem when $Omega$ is only assumed to be convex, and give a necessary and sufficient condition on the boundary data for solvability.

  5. Selections of the metric projection operator and strict solarity of sets with continuous metric projection

    Science.gov (United States)

    Alimov, A. R.

    2017-07-01

    In a broad class of finite-dimensional Banach spaces, we show that a closed set with lower semicontinuous metric projection is a strict sun, admits a continuous selection of the metric projection operator onto it, has contractible intersections with balls, and its (nonempty) intersection with any closed ball is a retract of this ball. For sets with continuous metric projection, a number of new results relating the solarity of such sets to the stability of the operator of best approximation are obtained. Bibliography 25 titles.

  6. Transplanting Diseases from Organ Donors in Western Europe: Fault Liability or Strict Liability?

    Science.gov (United States)

    Broeckx, Nils; Verhoeven, Dimitri

    2015-06-01

    This article will examine the problem of disease transmission through organ transplantation from a civil liability perspective. Both fault liability and strict product liability might be possible. These two types of liability will be compared, while applying them to the actions of the central parties involved in organ donation and transplantation, namely the physician/hospital, the donor and the organ exchange organisation. While product liability is generally an easier way to obtain compensation than fault liability, it might nevertheless place too heavy a burden on the transplant professionals.

  7. Single molecule experiments challenge the strict wave-particle dualism of light.

    Science.gov (United States)

    Greulich, Karl Otto

    2010-01-21

    Single molecule techniques improve our understanding of the photon and light. If the single photon double slit experiment is performed at the "single photon limit" of a multi-atom light source, faint light pulses with more than one photon hamper the interpretation. Single molecules, quantum dots or defect centres in crystals should be used as light source. "Single photon detectors" do not meet their promise-only "photon number resolving single photon detectors" do so. Particularly, the accumulation time argument, the only safe basis for the postulate of a strictly particle like photon, has so far not yet been verified.

  8. Single Molecule Experiments Challenge the Strict Wave-Particle Dualism of Light

    Directory of Open Access Journals (Sweden)

    Karl Otto Greulich

    2010-01-01

    Full Text Available Single molecule techniques improve our understanding of the photon and light. If the single photon double slit experiment is performed at the “single photon limit” of a multi-atom light source, faint light pulses with more than one photon hamper the interpretation. Single molecules, quantum dots or defect centres in crystals should be used as light source. “Single photon detectors” do not meet their promise―only “photon number resolving single photon detectors” do so. Particularly, the accumulation time argument, the only safe basis for the postulate of a strictly particle like photon, has so far not yet been verified.

  9. Dynamic Inheritance and Static Analysis can be Reconciled

    DEFF Research Database (Denmark)

    Ernst, Erik

    1998-01-01

    the exibility and expressivity of staticlanguages while preserving the safety properties. It is an inheritancemechanism, with standard single inheritance as a special case. It al-lows both compile-time and run-time construction of new classes. More-over, it supports specialization of existing objects at run......-time. This helpsavoiding the combinatorial explosion in the number of classes associatedwith multiple inheritance, and it supports a better separation of con-cerns in large systems. Pre-methoding|inheritance applied to behavioraldescriptors|has been used for the construction of control structures formany years, in Beta....... With dynamic inheritance, pre-methoding becomesmore expressive, supporting control structures as rst class values whichmay be constructed and combined dynamically. Even though the conceptof pre-methoding is missing from most other languages, the basic ideacould be applied to any statically typed object...

  10. Genetics Home Reference: inherited thyroxine-binding globulin deficiency

    Science.gov (United States)

    ... problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to ... TBG Level Health Topic: Newborn Screening Health Topic: Thyroid Diseases Educational Resources (1 link) MalaCards: inherited thyroxine-binding ...

  11. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne

    2013-01-01

    Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists...

  12. Inheritance of the chronic myeloproliferative neoplasms. A systematic review

    DEFF Research Database (Denmark)

    Ranjan, Ajenthen; Penninga, E; Jelsig, Am

    2012-01-01

    This systematic review investigated the inheritance of the classical chronic myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic myelogenous leukemia (CML). Sixty-one articles were included and provided 135...

  13. Intergenerational epigenetic inheritance in reef-building corals

    KAUST Repository

    Liew, Yi Jin

    2018-02-22

    The notion that intergenerational or transgenerational inheritance operates solely through genetic means is slowly being eroded: epigenetic mechanisms have been shown to induce heritable changes in gene activity in plants and metazoans. Inheritance of DNA methylation provides a potential pathway for environmentally induced phenotypes to contribute to evolution of species and populations. However, in basal metazoans, it is unknown whether inheritance of CpG methylation patterns occurs across the genome (as in plants) or as rare exceptions (as in mammals). Here, we demonstrate genome-wide intergenerational transmission of CpG methylation patterns from parents to sperm and larvae in a reef-building coral. We also show variation in hypermethylated genes in corals from distinct environments, indicative of responses to variations in temperature and salinity. These findings support a role of DNA methylation in the transgenerational inheritance of traits in corals, which may extend to enhancing their capacity to adapt to climate change.

  14. Fuzzy Adaptive Decentralized Optimal Control for Strict Feedback Nonlinear Large-Scale Systems.

    Science.gov (United States)

    Sun, Kangkang; Sui, Shuai; Tong, Shaocheng

    2018-04-01

    This paper considers the optimal decentralized fuzzy adaptive control design problem for a class of interconnected large-scale nonlinear systems in strict feedback form and with unknown nonlinear functions. The fuzzy logic systems are introduced to learn the unknown dynamics and cost functions, respectively, and a state estimator is developed. By applying the state estimator and the backstepping recursive design algorithm, a decentralized feedforward controller is established. By using the backstepping decentralized feedforward control scheme, the considered interconnected large-scale nonlinear system in strict feedback form is changed into an equivalent affine large-scale nonlinear system. Subsequently, an optimal decentralized fuzzy adaptive control scheme is constructed. The whole optimal decentralized fuzzy adaptive controller is composed of a decentralized feedforward control and an optimal decentralized control. It is proved that the developed optimal decentralized controller can ensure that all the variables of the control system are uniformly ultimately bounded, and the cost functions are the smallest. Two simulation examples are provided to illustrate the validity of the developed optimal decentralized fuzzy adaptive control scheme.

  15. The Maternal-to-Zygotic Transition in Flowering Plants: Evidence, Mechanisms, and Plasticity.

    Science.gov (United States)

    Baroux, Célia; Grossniklaus, Ueli

    2015-01-01

    The maternal-to-zygotic transition (MZT) defines a developmental phase during which the embryo progressively emancipates itself from a developmental control relying largely on maternal information. The MZT is a functional readout of two processes: the clearance of maternally derived information and the de novo expression of the inherited, parental alleles enabled by zygotic genome activation (ZGA). In plants, for many years the debate about whether the MZT exists at all focused on the ZGA alone. However, several recent studies provide evidence for a progressive alleviation of the maternal control over embryogenesis that is correlated with a gradual ZGA, a process that is itself maternally controlled. Yet, several examples of zygotic genes that are expressed and/or functionally required early in embryogenesis demonstrate a certain flexibility in the dynamics and kinetics of the MZT among plant species and also intraspecific hybrids. © 2015 Elsevier Inc. All rights reserved.

  16. Parental source effect of inherited mutations in the dystrophin gene of mice and men

    Energy Technology Data Exchange (ETDEWEB)

    Kress, W.; Grimm, T.; Mueller, C.R. [Institute of Human Genetics, Wuerburg (Germany); Bittner, R. [Institute of Anatomy, Wein (Australia)

    1994-09-01

    Skewed X-inactivation has been suspected the genetic cause for some manifesting female carriers of BMD and DMD. To test whether a parental source effect on the protein expression of the dystrophin gene exists, we have set up backcrosses of mdx mice to wild type strains, enabling us to study the effect of the well-defined origin of the mutation on the dystrophin expression. In skeletal muscle sections the immunohistological staining patterns of dystrophin antibodies were showing a significant difference in the proportion of dystrophin positive versus negative fibers, suggesting a lower expression of paternally inherited mdx mutations. These data are in concordance with the pyruvate kinase (PK) levels in the serum: PK levels were much higher when the mutation was of maternal origin as compared to PK levels in paternally derived mutations. In order to test this {open_quotes}paternal source effect{close_quotes} in humans, we checked obligatory carriers of Becker muscular dystrophy (BMD) for the origin of their mutations. Creatin kinase (CK) levels in 21 carriers with maternally derived mutations were compared to CK values from 8 heterozygotes with mutations of paternal origin: CK (mat) = 140.3 IU/1 versus CK (pat) = 48.6 IU/I. The difference is statistically significant at the 5% level. These observations suggest either a differential X-inactivation or an imprinting of the dystrophin gene in mice and men.

  17. Cross Border Inheritances and European Community Law : Juridical double taxation of inheritances and the free movement of capital

    OpenAIRE

    Wiberg, Caroline

    2009-01-01

    Double taxation is known as restricting the free flow of capital and accordingly results in a limited access of the internal market. Although, not many Member States have entered into double taxation conventions in order to avoid juridical double taxation of inheritances. The question then arises whether this failure to eliminate juridical double taxation is restricting the free movement of capital. The ECJ‟s case law regarding inheritance taxes are very varying. In its initial case law, the ...

  18. Isogamous, hermaphroditic inheritance of mitochondrion-encoded resistance to Qo inhibitor fungicides in Blumeria graminis f. sp. tritici.

    Science.gov (United States)

    Robinson, H L; Ridout, C J; Sierotzki, H; Gisi, U; Brown, J K M

    2002-07-01

    A mutation of glycine to alanine at position 143 in the mitochondrial cytochrome b amino acid sequence of Blumeria graminis f. sp. tritici cosegregated with the QoI-resistant phenotype in a ratio of 1:1 in a cross between a sensitive and a resistant isolate. This mutation was used as a mitochondrial marker to determine whether mitochondrial inheritance in B. graminis was anisogamous, as in heterothallic Neurospora sp., or isogamous and hermaphroditic, as in Aspergillus nidulans. Segregation of mitochondrial genotypes in B. graminis f. sp. tritici was consistent with inheritance of mitochondria being hermaphroditic and isogamous, in that all ascospores from an individual cleistothecium had the same mitochondrial genotype and that either parent could act as the maternal parent of a cleistothecium. Within each cleistothecium, nuclear segregation occurred independently of mitochondrial inheritance, as shown by segregation of resistance to the fungicide triadimenol and by segregation of avirulences to the wheat cultivars Galahad (Pm2), Armada (Pm4b), and Holger (Pm6).

  19. Maternal health and human rights

    African Journals Online (AJOL)

    Abstract. In Malawi the maternal mortality ratio is extremely high. Since almost all maternal deaths are avoidable, maternal mortality is also an issue of human rights. This paper examines the root causes of high maternal mortality in Malawi and applies a human rights-based approach to the reduction of maternal mortality.

  20. [Traditional Chinese medicine inheritance system analysis of professor Ding Yuanqing in treating tic disorder medication based on experience].

    Science.gov (United States)

    Sun, Lu-yan; Li, Qing-peng; Zhao, Li-li; Ding, Yuan-qing

    2015-08-01

    In recent years, the incidence of tic disorders has increased, and it is not uncommon for the patients to treat the disease. The pathogenesis and pathogenesis of Western medicine are not yet clear, the clinical commonly used western medicine has many adverse reactions, traditional Chinese medicine (TCM) research is increasingly valued. Based on the software of TCM inheritance assistant system, this paper discusses Ding Yuanqing's experience in treating tic disorder with Professor. Collect yuan Qing Ding professor in treating tic disorder of medical records by association rules Apriori algorithm, complex system entropy clustering without supervision and data mining method, carries on the analysis to the selected 800 prescriptions, to determine the frequency of use of prescription drugs, the association rules between the drug and digging out the 12 core combination and the first six new prescription, medication transferred to the liver and extinguish wind, cooling blood and relieving convulsion, Qingxin soothe the nerves, with the card cut, flexible application, strict compatibility.

  1. Study on Environment Performance Evaluation and Regional Differences of Strictly-Environmental-Monitored Cities in China

    Directory of Open Access Journals (Sweden)

    Ji Guo

    2017-12-01

    Full Text Available With the rapid economic growth and development, the problem of environmental pollution in China’s cities is becoming increasingly serious, and environmental pollution takes on a regional difference. There is, however, little comprehensive evaluation on the environmental performance and the regional difference of strictly-environmental-monitored cities in China. In this paper, the environmental performance of 109 strictly-environmental-monitored cities in China is evaluated in terms of natural performance, management performance, and scale performance by Data Envelopment Analysis (DEA, incorporating PM2.5 and PM10 as undesirable outputs. The empirical results show that: (1 At present, the natural performance is quite high, while the management performance is noticeably low for most cities. (2 The gap between the level of economic development and environmental protection among cities in China is large, and the scale efficiency of big cities is better than that of smaller cities. The efficiency value of large-scale cities such as Beijing, Shanghai, Guangzhou, Shenzhen, etc. is high, equaling 1; the value of smaller cities such as Sanmenxia, Baoding, Mudanjiang, and Pingdingshan is low, close to 0, indicating that big cities are characterized by high environmental efficiency. (3 From the perspective of region, the level of environmental performance in China is very uneven. For example, the environmental efficiency level of the Pan-Pearl River Delta region is superior to that of the Pan-Yangtze River region and the Bahia Rim region, whose values of environmental efficiency are 0.858, 0.658, and 0.622 respectively. The average efficiency of the Southern Coastal Economic Zone, Eastern Coastal Comprehensive Economic Zone, and the Comprehensive Economic Zone in the middle reaches of the Yangtze River is higher than that of other regions. Finally, corresponding countermeasures and suggestions are put forward. The method used in this paper is applicable

  2. Disordered strictly jammed binary sphere packings attain an anomalously large range of densities

    Science.gov (United States)

    Hopkins, Adam B.; Stillinger, Frank H.; Torquato, Salvatore

    2013-08-01

    Previous attempts to simulate disordered binary sphere packings have been limited in producing mechanically stable, isostatic packings across a broad spectrum of packing fractions. Here we report that disordered strictly jammed binary packings (packings that remain mechanically stable under general shear deformations and compressions) can be produced with an anomalously large range of average packing fractions 0.634≤ϕ≤0.829 for small to large sphere radius ratios α restricted to α≥0.100. Surprisingly, this range of average packing fractions is obtained for packings containing a subset of spheres (called the backbone) that are exactly strictly jammed, exactly isostatic, and also generated from random initial conditions. Additionally, the average packing fractions of these packings at certain α and small sphere relative number concentrations x approach those of the corresponding densest known ordered packings. These findings suggest for entropic reasons that these high-density disordered packings should be good glass formers and that they may be easy to prepare experimentally. We also identify an unusual feature of the packing fraction of jammed backbones (packings with rattlers excluded). The backbone packing fraction is about 0.624 over the majority of the α-x plane, even when large numbers of small spheres are present in the backbone. Over the (relatively small) area of the α-x plane where the backbone is not roughly constant, we find that backbone packing fractions range from about 0.606 to 0.829, with the volume of rattler spheres comprising between 1.6% and 26.9% of total sphere volume. To generate isostatic strictly jammed packings, we use an implementation of the Torquato-Jiao sequential linear programming algorithm [Phys. Rev. EPLEEE81539-375510.1103/PhysRevE.82.061302 82, 061302 (2010)], which is an efficient producer of inherent structures (mechanically stable configurations at the local maxima in the density landscape). The identification and

  3. Disordered strictly jammed binary sphere packings attain an anomalously large range of densities.

    Science.gov (United States)

    Hopkins, Adam B; Stillinger, Frank H; Torquato, Salvatore

    2013-08-01

    Previous attempts to simulate disordered binary sphere packings have been limited in producing mechanically stable, isostatic packings across a broad spectrum of packing fractions. Here we report that disordered strictly jammed binary packings (packings that remain mechanically stable under general shear deformations and compressions) can be produced with an anomalously large range of average packing fractions 0.634≤φ≤0.829 for small to large sphere radius ratios α restricted to α≥0.100. Surprisingly, this range of average packing fractions is obtained for packings containing a subset of spheres (called the backbone) that are exactly strictly jammed, exactly isostatic, and also generated from random initial conditions. Additionally, the average packing fractions of these packings at certain α and small sphere relative number concentrations x approach those of the corresponding densest known ordered packings. These findings suggest for entropic reasons that these high-density disordered packings should be good glass formers and that they may be easy to prepare experimentally. We also identify an unusual feature of the packing fraction of jammed backbones (packings with rattlers excluded). The backbone packing fraction is about 0.624 over the majority of the α-x plane, even when large numbers of small spheres are present in the backbone. Over the (relatively small) area of the α-x plane where the backbone is not roughly constant, we find that backbone packing fractions range from about 0.606 to 0.829, with the volume of rattler spheres comprising between 1.6% and 26.9% of total sphere volume. To generate isostatic strictly jammed packings, we use an implementation of the Torquato-Jiao sequential linear programming algorithm [Phys. Rev. E 82, 061302 (2010)], which is an efficient producer of inherent structures (mechanically stable configurations at the local maxima in the density landscape). The identification and explicit construction of binary packings

  4. Characterization of the HLA-DRβ1 third hypervariable region amino acid sequence according to charge and parental inheritance in systemic sclerosis.

    Science.gov (United States)

    Gentil, Coline A; Gammill, Hilary S; Luu, Christine T; Mayes, Maureen D; Furst, Dan E; Nelson, J Lee

    2017-03-07

    Specific HLA class II alleles are associated with systemic sclerosis (SSc) risk, clinical characteristics, and autoantibodies. HLA nomenclature initially developed with antibodies as typing reagents defining DRB1 allele groups. However, alleles from different DRB1 allele groups encode the same third hypervariable region (3rd HVR) sequence, the primary T-cell recognition site, and 3rd HVR charge differences can affect interactions with T cells. We considered 3rd HVR sequences (amino acids 67-74) irrespective of the allele group and analyzed parental inheritance considered according to the 3rd HVR charge, comparing SSc patients with controls. In total, 306 families (121 SSc and 185 controls) were HLA genotyped and parental HLA-haplotype origin was determined. Analysis was conducted according to DRβ1 3rd HVR sequence, charge, and parental inheritance. The distribution of 3rd HVR sequences differed in SSc patients versus controls (p = 0.007), primarily due to an increase of specific DRB1*11 alleles, in accord with previous observations. The 3rd HVR sequences were next analyzed according to charge and parental inheritance. Paternal transmission of DRB1 alleles encoding a +2 charge 3rd HVR was significantly reduced in SSc patients compared with maternal transmission (p = 0.0003, corrected for analysis of four charge categories p = 0.001). To a lesser extent, paternal transmission was increased when charge was 0 (p = 0.021, corrected for multiple comparisons p = 0.084). In contrast, paternal versus maternal inheritance was similar in controls. SSc patients differed from controls when DRB1 alleles were categorized according to 3rd HVR sequences. Skewed parental inheritance was observed in SSc patients but not in controls when the DRβ1 3rd HVR was considered according to charge. These observations suggest that epigenetic modulation of HLA merits investigation in SSc.

  5. Lyme Neuroborreliosis: Preliminary Results from an Urban Referral Center Employing Strict CDC Criteria for Case Selection

    Directory of Open Access Journals (Sweden)

    David S. Younger

    2010-01-01

    Full Text Available Lyme neuroborreliosis or “neurological Lyme disease” was evidenced in 2 of 23 patients submitted to strict criteria for case selection of the Centers for Disease Control and Prevention employing a two-tier test to detect antibodies to Borrelia burgdorferi at a single institution. One patient had symptomatic polyradiculoneuritis, dysautonomia, and serological evidence of early infection; and another had symptomatic small fiber sensory neuropathy, distal polyneuropathy, dysautonomia, and serological evidence of late infection. In the remaining patients symptoms initially ascribed to Lyme disease were probably unrelated to B. burgdorferi infection. Our findings suggest early susceptibility and protracted involvement of the nervous system most likely due to the immunological effects of B. burgdorferi infection, although the exact mechanisms remain uncertain.

  6. On The Integral Representation of Strictly Continuous Set-Valued Maps

    Directory of Open Access Journals (Sweden)

    Anaté K. Lakmon

    2015-11-01

    Full Text Available Let T be a completely regular topological space and C(T be the space of bounded, continuous real-valued functions on T. C(T is endowed with the strict topology (the topology generated by seminorms determined by continuous functions vanishing at in_nity. R. Giles ([13], p. 472, Theorem 4.6 proved in 1971 that the dual of C(T can be identi_ed with the space of regular Borel measures on T. We prove this result for positive, additive set-valued maps with values in the space of convex weakly compact non-empty subsets of a Banach space and we deduce from this result the theorem of R. Giles ([13], theorem 4.6, p.473.

  7. A Total Variation Model Based on the Strictly Convex Modification for Image Denoising

    Directory of Open Access Journals (Sweden)

    Boying Wu

    2014-01-01

    Full Text Available We propose a strictly convex functional in which the regular term consists of the total variation term and an adaptive logarithm based convex modification term. We prove the existence and uniqueness of the minimizer for the proposed variational problem. The existence, uniqueness, and long-time behavior of the solution of the associated evolution system is also established. Finally, we present experimental results to illustrate the effectiveness of the model in noise reduction, and a comparison is made in relation to the more classical methods of the traditional total variation (TV, the Perona-Malik (PM, and the more recent D-α-PM method. Additional distinction from the other methods is that the parameters, for manual manipulation, in the proposed algorithm are reduced to basically only one.

  8. Residual diffeomorphisms and symplectic soft hairs: The need to refine strict statement of equivalence principle

    Science.gov (United States)

    Sheikh-Jabbari, M. M.

    2016-09-01

    General covariance is the cornerstone of Einstein’s general relativity (GR) and implies that any two metrics related by diffeomorphisms are physically equivalent. There are, however, many examples pointing to the fact that this strict statement of general covariance needs refinement. There are a very special (measure-zero) subset of diffeomorphisms, the residual diffeomorphisms, to which one can associate well-defined conserved charges. This would hence render these diffeomorphic geometries physically distinct. We discuss that these symmetries may be appropriately called “symplectic symmetries”. Existence of residual diffeomorphisms and symplectic symmetries can be a quite general feature and not limited to the examples discussed so far in the literature. We propose that, in the context of black holes, these diffeomorphic, but distinct, geometries may be viewed as “symplectic soft hair” on black holes. We comment on how this may remedy black hole microstate problem, which in this context are dubbed as “horizon fluffs”.

  9. Reactions to terror attacks in ultra-orthodox jews: the cost of maintaining strict identity.

    Science.gov (United States)

    Ankri, Yael L E; Bachar, Eytan; Shalev, Arieh Y

    2010-01-01

    Traumatic events can shatter faith and beliefs. The responses of Ultra-Orthodox survivors of deadly terrorist attacks illustrate an effort to reconcile dreadful experiences with deeply embedded beliefs. Qualified clinicians prospectively evaluated self-reported and interviewer-generated posttraumatic stress disorder (PTSD) symptoms and cognitive appraisal in Ultra-Orthodox (n = 20) and non-Ultra-Orthodox (n = 33) survivors of suicide bus-bombing incidents in Jerusalem. Ultra-Orthodox survivors reported higher levels of PTSD symptoms and more personal guilt. Their narratives reflected an unshaken belief in Just Providence, within which being a victim of terror was perceived as a Just retribution for known or unknown wrongdoing. Survivors' reactions to trauma often reflect an effort to reconcile incongruous experiences with previously held beliefs. When treating strict believers, helpers should be sensitive to the identity-preserving function of posttraumatic cognitions.

  10. On a class of adjustable rate mortgage loans subject to a strict balance principle

    DEFF Research Database (Denmark)

    Astrup Jensen, Bjarne

    We describe the background and the basic funding mechanisms for the type of adjustable rate mortgageloans that were introduced in the Danish market in 1996. Each loan is funded separately by tap issuingpass-through mortgage bonds (`strict balance principle'). The novelty is a funding mechanism...... that usesa roll-over strategy, where long term loans are funded by sequentially issuing short term pass-throughbonds, and the first issuer of these loans obtained a patent on the funding principles in 1999. Publiclyavailable descriptions of the principles leave an impression of very complicated numerical...... algorithms.The algorithms described here show that the essentials can be reduced to a `back of an envelope' complexity.Keywords: Adjustable rate mortgages, balance principle, patent, yield curve riding...

  11. Strict Liability Versus Policy and Regulation for Environmental Protection and Agricultural Waste Management in Malaysia

    Directory of Open Access Journals (Sweden)

    Mohd Bakri Ishak

    2010-01-01

    Full Text Available Basically, strict liability is part of the mechanism for expressing judgment or sentence by using direct evidence. This principle is very useful in order to obtain remedies from any damage either directly or indirectly. The principle in Rylands v Fletcher is responsible on imposing strict liability where if something brought onto land or collected there escapes liability under this rule can include not only the owner of land but also those who control or occupation on it. However, as a matter of fact, policy and regulation are also important in taking any action against any party who are responsible for environmental pollution or damage, which may include mismanagement of waste or industrial waste or agricultural waste. There are certain policies and regulations on environmental protection such as the National Environmental Policy, certain Acts and several regulations under the Environmental Quality Act 1974 (Act 127, which are very useful for agricultural waste management inter alia: Waters Act 1920 (Act 418, Environmental Quality (Prescribed Premises (Crude Palm Oil Regulations 1977, Environmental Quality (Prescribed Premises (Raw Natural Rubber Regulations 1978, Environmental Quality (Sewage and Industrial Effluents Regulations 1979, and Environmental Quality (Compounding of Offences Rules 1978. As a matter of fact, we should realize that time is of an essence for any parties which are involved in court cases and especially in avoiding the element of externality, which is commonly suffered by the government. In making this paper, therefore, some element of comparison with certain developed jurisdiction such as in the United Kingdom and Japan could not be avoided in order to obtain better outcome and to be more practical for the purpose of environmental protection and agricultural waste management.

  12. The Effect of Strict Segregation on Pseudomonas aeruginosa in Cystic Fibrosis Patients.

    Directory of Open Access Journals (Sweden)

    Rosa van Mansfeld

    Full Text Available Segregation of patients with cystic fibrosis (CF was implemented to prevent chronic infection with epidemic Pseudomonas aeruginosa strains with presumed detrimental clinical effects, but its effectiveness has not been carefully evaluated.The effect of strict segregation on the incidence of P. aeruginosa infection in CF patients was investigated through longitudinal protocolized follow-up of respiratory tract infection before and after segregation. In two nested cross-sectional studies in 2007 and 2011 the P. aeruginosa population structure was investigated and clinical parameters were determined in patients with and without infection with the Dutch epidemic P. aeruginosa clone (ST406.Of 784 included patients 315 and 382 were at risk for acquiring chronic P. aeruginosa infection before and after segregation. Acquisition rates were, respectively, 0.14 and 0.05 per 1,000 days at risk (HR: 0.66, 95% CI [0.2548-1.541]; p = 0.28. An exploratory subgroup analysis indicated lower acquisition after segregation in children < 15 years of age (HR: 0.43, 95% CI[0.21-0.95]; p = 0.04. P. aeruginosa population structure did not change after segregation and ST406 was not associated with lung function decline, death or lung transplantation.Strict segregation was not associated with a statistically significant lower acquisition of chronic P. aeruginosa infection and ST406 was not associated with adverse clinical outcome. After segregation there were no new acquisitions of ST406. In an unplanned exploratory analysis chronic acquisition of P. aeruginosa was lower after implementation of segregation in patients under 15 years of age.

  13. Weight of fitness deviation governs strict physical chaos in replicator dynamics

    Science.gov (United States)

    Pandit, Varun; Mukhopadhyay, Archan; Chakraborty, Sagar

    2018-03-01

    Replicator equation—a paradigm equation in evolutionary game dynamics—mathematizes the frequency dependent selection of competing strategies vying to enhance their fitness (quantified by the average payoffs) with respect to the average fitnesses of the evolving population under consideration. In this paper, we deal with two discrete versions of the replicator equation employed to study evolution in a population where any two players' interaction is modelled by a two-strategy symmetric normal-form game. There are twelve distinct classes of such games, each typified by a particular ordinal relationship among the elements of the corresponding payoff matrix. Here, we find the sufficient conditions for the existence of asymptotic solutions of the replicator equations such that the solutions—fixed points, periodic orbits, and chaotic trajectories—are all strictly physical, meaning that the frequency of any strategy lies inside the closed interval zero to one at all times. Thus, we elaborate on which of the twelve types of games are capable of showing meaningful physical solutions and for which of the two types of replicator equation. Subsequently, we introduce the concept of the weight of fitness deviation that is the scaling factor in a positive affine transformation connecting two payoff matrices such that the corresponding one-shot games have exactly same Nash equilibria and evolutionary stable states. The weight also quantifies how much the excess of fitness of a strategy over the average fitness of the population affects the per capita change in the frequency of the strategy. Intriguingly, the weight's variation is capable of making the Nash equilibria and the evolutionary stable states, useless by introducing strict physical chaos in the replicator dynamics based on the normal-form game.

  14. Selvester scoring in patients with strict LBBB using the QUARESS software.

    Science.gov (United States)

    Xia, Xiaojuan; Chaudhry, Uzma; Wieslander, Björn; Borgquist, Rasmus; Wagner, Galen S; Strauss, David G; Platonov, Pyotr; Ugander, Martin; Couderc, Jean-Philippe

    2015-01-01

    Estimation of the infarct size from body-surface ECGs in post-myocardial infarction patients has become possible using the Selvester scoring method. Automation of this scoring has been proposed in order to speed-up the measurement of the score and improving the inter-observer variability in computing a score that requires strong expertise in electrocardiography. In this work, we evaluated the quality of the QuAReSS software for delivering correct Selvester scoring in a set of standard 12-lead ECGs. Standard 12-lead ECGs were recorded in 105 post-MI patients prescribed implantation of an implantable cardiodefibrillator (ICD). Amongst the 105 patients with standard clinical left bundle branch block (LBBB) patterns, 67 had a LBBB pattern meeting the strict criteria. The QuAReSS software was applied to these 67 tracings by two independent groups of cardiologists (from a clinical group and an ECG core laboratory) to measure the Selvester score semi-automatically. Using various level of agreement metrics, we compared the scores between groups and when automatically measured by the software. The average of the absolute difference in Selvester scores measured by the two independent groups was 1.4±1.5 score points, whereas the difference between automatic method and the two manual adjudications were 1.2±1.2 and 1.3±1.2 points. Eighty-two percent score agreement was observed between the two independent measurements when the difference of score was within two point ranges, while 90% and 84% score agreements were reached using the automatic method compared to the two manual adjudications. The study confirms that the QuAReSS software provides valid measurements of the Selvester score in patients with strict LBBB with minimal correction from cardiologists. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Strict stoichiometric homeostasis of Cryptomonas pyrenoidifera (Cryptophyceae in relation to N:P supply ratios

    Directory of Open Access Journals (Sweden)

    Eloísa Ramos Rodríguez

    2016-11-01

    Full Text Available A common freshwater cryptophyte, Cryptomonas pyrenoidifera, was cultivated in batch-cultures to analyze intraspecific variation in elemental stoichiometry along a broad gradient of pulsed phosphorus (P enrichment during the early acclimation period and to determine the immediate homeostatic capacity of the nitrogen-to-phosphorus (N:P ratio of this alga when nutrients are at saturating levels. Experimental results revealed that nitrogen (N and P cell quotas significantly increased with increasing P concentration. However, despite the wide range of N:P ratios in the medium, Cryptomonas N:P ratios were highly stable at higher P-level treatments, indicating a highly conservative behavior and suggesting strict elemental homeostasis when nutrients are at saturating levels. The strictly homeostatic N:P ratio appears to be attributable to their high potential for a fast luxury consumption of both N and P after a brief and intense episode of increased resource availability and to physiological limits on their nutrient storage capacity. Most importantly, the N:P biomass ratio at nutrient saturating levels converged around 11:1, which was the observed ratio of maximum internal cell quotas for N and P (i.e. Qmax,N:Qmax,P under the prevailing experimental conditions. This value is particularly informative for C. pyrenoidifera because it represents cell storage quotients and may be a taxon-specific evolutionary optimum, providing a reference point to infer the grade of nutrient-limitation. The experimental data give ranges of variation in C. pyrenoidifera elemental composition permitting, among others, proper parameterization of cryptophyte stoichiometry models.

  16. Strict follow-up programme including CT and (18) F-FDG-PET after curative surgery for colorectal cancer

    DEFF Research Database (Denmark)

    Sørensen, N F; Jensen, A B; Wille-Jørgensen, P

    2010-01-01

    Aim  The risk of local recurrence following curative surgery for colorectal cancer (CRC) is up to 50%. A rigorous follow-up program may increase survival. Guidelines on suitable methods for scheduled follow up examinations are needed. This study evaluates a strict follow-up program including...... supported a strict follow-up program following curative surgery for colorectal cancer. FDG-PET combined with CT should be included in control programs....

  17. Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis.

    Science.gov (United States)

    Iolascon, Achille; De Falco, Luigia; Beaumont, Carole

    2009-03-01

    Microcytic anemia is the most commonly encountered anemia in general medical practice. Nutritional iron deficiency and beta thalassemia trait are the primary causes in pediatrics, whereas bleeding disorders and anemia of chronic disease are common in adulthood. Microcytic hypochromic anemia can result from a defect in globin genes, in heme synthesis, in iron availability or in iron acquisition by the erythroid precursors. These microcytic anemia can be sideroblastic or not, a trait which reflects the implications of different gene abnormalities. Iron is a trace element that may act as a redox component and therefore is integral to vital biological processes that require the transfer of electrons as in oxygen transport, oxidative phosphorylation, DNA biosynthesis and xenobiotic metabolism. However, it can also be pro-oxidant and to avoid its toxicity, iron metabolism is strictly controlled and failure of these control systems could induce iron overload or iron deficient anemia. During the past few years, several new discoveries mostly arising from human patients or mouse models have highlighted the implication of iron metabolism components in hereditary microcytic anemia, from intestinal absorption to its final inclusion into heme. In this paper we will review the new information available on the iron acquisition pathway by developing erythrocytes and its regulation, and we will consider only inherited microcytosis due to heme synthesis or to iron metabolism defects. This information could be useful in the diagnosis and classification of these microcytic anemias.

  18. MATERNAL BELIEFS.CDR

    African Journals Online (AJOL)

    Maternal beliefs about infant teething. 1. 2. 3. OG Uti , KO Savage ... Nigeria. 3Department of Community Health, College of Medicine, University of Lagos, Lagos. Nigeria. KEY WORDS: Infant teething. Maternal beliefs. Lagos. Nigeria now accurately .... the questions into the appropriate language or Pidgin. English. Analysis.

  19. Maternal early warning systems.

    Science.gov (United States)

    Friedman, Alexander M

    2015-06-01

    This article reviews evidence and recommendations for maternal early warning systems designed to reduce severe maternal morbidity and mortality. The clinical rationale for these systems is discussed as is research literature on early warning systems from other fields. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Maternal death review:

    African Journals Online (AJOL)

    Maternal death reviews provide evidence of where the main problems in overcoming maternal mortality and morbidity may lie, produce an analysis of what can be done in practical terms and highlight the key areas requiring recommendations for health sector and community action as well as policy directions (8). In Ethiopia ...

  1. Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.

    Science.gov (United States)

    Percy, A K

    1999-04-01

    The past 3 decades have witnessed impressive progress in our understanding of inherited neurometabolic diseases, promoted by the rapid development and application of molecular genetic strategies. Such progress has required the juxtaposition of clinical evaluations and basic science techniques. The central role of careful and complete assessment of affected children cannot be overemphasized and in no way has been diminished by technologic advances. Indeed, enhanced clinical and laboratory evaluations have led to important conceptual advances. Molecular genetics has elucidated those disorders with known metabolic defects through functional cloning and explained the variability of disease expression based on specific mutational events. Alternatively, positional cloning has identified molecular defects for those disorders with clear phenotypic patterns, but lacking a defined metabolic abnormality. Regarding heterogeneous expression, disorders with clearly different phenotypes can arise from different mutations within the same gene. The multiple variants of beta-hexosaminidase deficiency (Tay-Sachs disease) are, arguably, the best examples. Conversely, disorders with similar phenotypes are explainable by quite different mutational events. In addition, the identification of specific diseases exhibiting both biochemical abnormalities and disturbed organogenesis has blurred conventional dogma regarding separation of genetic disorders into strict metabolic and structural categories. Disorders of peroxisomal function and the neuronal ceroid lipofuscinoses are prototypes for the points noted above and raise important issues regarding our approaches to children with these disorders. These issues include a high index of suspicion for an inherited neurometabolic disease and an open mind to possible interrelations with other known and seemingly dissimilar conditions.

  2. Inheriting the past: Exploring historical consciousness across generations

    Directory of Open Access Journals (Sweden)

    Anna Clark

    2014-06-01

    Full Text Available Despite significant research into the meaning and operation of historical consciousness, there is still much to be understood about its hereditary function. For example, what does historical inheritance look like? How does it influence our individual and collective historical consciousnesses? And, just as critically, what happens to historical consciousness when history is deliberately withheld, when that inheritance is suspended or severed? As a way into some of these questions about passing on the past, this paper draws on a qualitative research project into historical consciousness in Australia to explore how so-called ‘ordinary people’ see themselves as part of a historical narrative. It reveals that historical inheritance is critical to our historical consciousness, and it notes the profound impact of forgetting on participants, raising important questions about the role of ‘silence’ and ‘absence’ in the formation of historical consciousness.

  3. Maternal sensitivity: a concept analysis.

    Science.gov (United States)

    Shin, Hyunjeong; Park, Young-Joo; Ryu, Hosihn; Seomun, Gyeong-Ae

    2008-11-01

    The aim of this paper is to report a concept analysis of maternal sensitivity. Maternal sensitivity is a broad concept encompassing a variety of interrelated affective and behavioural caregiving attributes. It is used interchangeably with the terms maternal responsiveness or maternal competency, with no consistency of use. There is a need to clarify the concept of maternal sensitivity for research and practice. A search was performed on the CINAHL and Ovid MEDLINE databases using 'maternal sensitivity', 'maternal responsiveness' and 'sensitive mothering' as key words. The searches yielded 54 records for the years 1981-2007. Rodgers' method of evolutionary concept analysis was used to analyse the material. Four critical attributes of maternal sensitivity were identified: (a) dynamic process involving maternal abilities; (b) reciprocal give-and-take with the infant; (c) contingency on the infant's behaviour and (d) quality of maternal behaviours. Maternal identity and infant's needs and cues are antecedents for these attributes. The consequences are infant's comfort, mother-infant attachment and infant development. In addition, three positive affecting factors (social support, maternal-foetal attachment and high self-esteem) and three negative affecting factors (maternal depression, maternal stress and maternal anxiety) were identified. A clear understanding of the concept of maternal sensitivity could be useful for developing ways to enhance maternal sensitivity and to maximize the developmental potential of infants. Knowledge of the attributes of maternal sensitivity identified in this concept analysis may be helpful for constructing measuring items or dimensions.

  4. Inherited leukoencephalopathies with clinical onset in middle and old age.

    Science.gov (United States)

    Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo

    2014-12-15

    The currently widespread use of neuroimaging has led neurologists to often face the problem of the differential diagnosis of white matter diseases. There are various forms of leukoencephalopathies (vascular, inflammatory and immunomediated, infectious, metabolic, neoplastic) and sometimes white matter lesions are expression of a genetic disease. While many inherited leukoencephalopathies fall in the child neurologist's interest, others may have a delayed or even a typical onset in the middle or old age. This field is rapidly growing and, in the last few years, many new inherited white matter diseases have been described and genetically defined. A non-delayed recognition of middle and old age inherited leukoencephalopathies appears important to avoid unnecessary tests and therapies in the patient and to possibly anticipate the diagnosis in relatives. The aim of this review is to provide a guide to direct the diagnostic process when facing a patient with a suspicion of an inherited form of leukoencephalopathy and with clinical onset in middle or old age. Based on a MEDLINE search from 1990 to 2013, we identified 24 middle and old age onset inherited leukoencephalopathies and reviewed in this relation the most recent findings focusing on their differential diagnosis. We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate

  5. Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach

    Directory of Open Access Journals (Sweden)

    Christopher R

    1999-01-01

    Full Text Available The past two decades have witnessed a rapid increase in the knowledge of the inherited neurometabolic disorders. The precise diagnosis of these disorders which is a challenge to the physician can be best accomplished by biochemical methods. Screening of clinically selected patients with simple chemical urine tests and routine blood chemistry investigations followed by measurement of specific metabolites and assay of the relevant enzymes confirms the diagnosis in most cases. Biochemical diagnosis of inherited neurometabolic disorders although expensive is rapid and confirmatory and therefore aids in treatment and further prevention of these rare disorders.

  6. Reducing Maternal Mortality by Strengthening Community Maternal ...

    African Journals Online (AJOL)

    AJRH Managing Editor

    translated from Hausa to English language. Using a pre-determined coding framework, coding and thematic analyses were carried out on the qualitative data collected from the baseline. LGA. Community. Estimated. Community. Population. Community maternal support systems established. Community savings. Emergency.

  7. Maternity waiting homes: A panacea for maternal/neonatal ...

    African Journals Online (AJOL)

    Maternity waiting homes were introduced in Eritrea in 2007 as a strategy to mitigate against the attendant high maternal mortality rates in hard to reach regions. Objective: To assess pregnancy outcomes verified through maternal mortality and perinatal mortality rates since the introduction of maternity waiting homes in some ...

  8. The effects of maternal haemoglobin as an indicator of maternal ...

    African Journals Online (AJOL)

    EB

    The effects of maternal haemoglobin as an indicator of maternal nutritional status on, maternal measles antibodies of mother-infant pairs at birth. *Baba UA1 .... SD = Standard deviation, CI = Confidence interval, GA = Gestational age, MA = Maternal age, BW = Birth .... In order to eliminate measles in children in our setting,.

  9. Immediate effect of instrumentation on the subgingival microflora in deep inflamed pockets under strict plaque control.

    Science.gov (United States)

    Rhemrev, G E; Timmerman, M F; Veldkamp, I; Van Winkelhoff, A J; Van der Velden, U

    2006-01-01

    To investigate (1) reduction in the number of microorganisms obtained directly after subgingival instrumentation, (2) rate of bacterial re-colonization during 2 weeks, under supragingival plaque-free conditions. Effects of subgingival instrumentation were measured at one deep pocket in 22 patients (11 smokers and 11 non-smokers). Immediately after initial therapy, experimental sites, under strict plaque control, were instrumented subgingivally. Microbiological evaluation was performed at pre-instrumentation, immediate post-instrumentation and 1 and 2 weeks post-instrumentation. Mean total anaerobic colony forming units (CFUs) dropped from 3.9 x 10(6) before to 0.09 x 10(6) immediately following instrumentation. Significant reductions were found for Tannerella forsythia, Micromonas micros, Fusobacterium nucleatum and spirochetes. Significant reductions were not observed for Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, Prevotella intermedia and Campylobacter rectus. Except for spirochetes, no reduction in prevalence of specific periodontal bacteria was found immediately after instrumentation. During follow-up, mean total CFU tended to increase. Prevalence of periodontal bacteria further reduced. No effect of smoking was found. Results indicate that subgingival mechanical cleaning in itself, has a limited effect, in actually removing bacteria. The subsequent reduction in prevalence of specific periodontal bacteria shows that it is apparently difficult for these species to survive in treated pockets.

  10. Magnetic resonance imaging quantitation of changes in muscle volume during 7 days of strict bed rest.

    Science.gov (United States)

    Ferrando, A A; Stuart, C A; Brunder, D G; Hillman, G R

    1995-10-01

    Prolonged bed rest results in a loss of leg lean body mass. Previous studies using bed rest as a model for microgravity have shown decreases in leg mass after 12 and 14 d, 5 and 17 wk. As magnetic resonance imaging (MRI) can provide a precise and non-invasive means of determining muscle volume, we sought to determine if changes in leg muscle volume could be detected in bed rest periods as short as 7 d. Five young, healthy, male volunteers were subjected to 7 d of absolute bed rest. Each subject underwent MRI quantitation of segmental muscle volumes of the calves and thighs before and after bed rest. Eleven (calf) and nine (thigh) contiguous 1-cm thick transaxial images were generated over prescribed regions using a Technicare MRI imager with a 0.6T superconducting magnet and body coil. Image processing was performed using a generalized 8-bit medical image analysis package developed at University of Texas Medical Branch. Images were analyzed for muscle and non-muscle volumes (including fat, blood vessel, and bone marrow volumes). The MRI quantitation demonstrated bed rest-induced significant decreases in segmental thigh muscle (approximately 3.0%, p image analysis of MRI images provides a sensitive tool capable of detecting leg volume changes of as little as 3.0% over a 7-d period of strict bed rest.

  11. Managing curriculum transformation within strict university governance structures: an example from Damascus University Medical School.

    Science.gov (United States)

    Kayyal, Mohammad; Gibbs, Trevor

    2012-01-01

    As the world of medical education moves forward, it becomes increasingly clear that the transformative process is not as easy a process for all. Across the globe, there appears to be many barriers that obstruct or threaten innovation and change, most of which cause almost insurmountable problems to many schools. If transformative education is to result in an equitable raising of standards across such an unlevel playing field, schools have to find ways in overcoming these barriers. One seemingly common barrier to development occurs when medical schools are trapped within strict University governance structures; rules and regulations which are frequently inappropriate and obstructive to the transformation that must occur in today's medical educational paradigm. The Faculty of Medicine at Damascus University, one of the oldest and foremost medical schools in the Middle East, is one such school where rigid rules and regulations and traditional values are obstructing transformative change. This paper describes the problems, which the authors believe to be common to many, and explores how attempts have been made to overcome them and move the school into the twenty-first century. It is the ultimate purpose of this paper to raise awareness of the issue, share the lessons learned in order to assist others who are experiencing similar problems and possibly create opportunities for dialogue between schools.

  12. On a holomorphic Lefschetz formula in strictly pseudoconvex subdomains of complex manifolds

    International Nuclear Information System (INIS)

    Kytmanov, A M; Myslivets, S G; Tarkhanov, N N

    2004-01-01

    The classical Lefschetz formula expresses the number of fixed points of a continuous map f:M→M in terms of the transformation induced by f on the cohomology of M. In 1966, Atiyah and Bott extended this formula to elliptic complexes over a compact closed manifold. In particular, they obtained a holomorphic Lefschetz formula on compact complex manifolds without boundary. Brenner and Shubin (1981, 1991) extended the Atiyah-Bott theory to compact manifolds with boundary. On compact complex manifolds with boundary the Dolbeault complex is not elliptic, therefore the Atiyah-Bott theory is not applicable. Bypassing difficulties related to the boundary behaviour of Dolbeault cohomology, Donnelly and Fefferman (1986) obtained a formula for the number of fixed points in terms of the Bergman metric. The aim of this paper is to obtain a Lefschetz formula on relatively compact strictly pseudoconvex subdomains of complex manifolds X with smooth boundary, that is, to find the total Lefschetz number for a holomorphic endomorphism f * of the Dolbeault complex and to express it in terms of local invariants of the fixed points of f.

  13. Divergent changes in serum sterols during a strict uncooked vegan diet in patients with rheumatoid arthritis.

    Science.gov (United States)

    Agren, J J; Tvrzicka, E; Nenonen, M T; Helve, T; Hänninen, O

    2001-02-01

    The effects of a strict uncooked vegan diet on serum lipid and sterol concentrations were studied in patients with rheumatoid arthritis. The subjects were randomized into a vegan diet group (n 16), who consumed a vegan diet for 2-3 months, or into a control group (n 13), who continued their usual omnivorous diets. Serum total and LDL-cholesterol and -phospholipid concentrations were significantly decreased by the vegan diet. The levels of serum cholestanol and lathosterol also decreased, but serum cholestanol:total cholesterol and lathosterol:total cholesterol did not change. The effect of a vegan diet on serum plant sterols was divergent as the concentration of campesterol decreased while that of sitosterol increased. This effect resulted in a significantly greater sitosterol:campesterol value in the vegan diet group than in the control group (1.48 (SD 0.39) v. 0.72 (SD 0.14); P vegan diet changes the relative absorption rates of these sterols and/or their biliary clearance.

  14. Model-Based Adaptive Event-Triggered Control of Strict-Feedback Nonlinear Systems.

    Science.gov (United States)

    Li, Yuan-Xin; Yang, Guang-Hong

    2018-04-01

    This paper is concerned with the adaptive event-triggered control problem of nonlinear continuous-time systems in strict-feedback form. By using the event-sampled neural network (NN) to approximate the unknown nonlinear function, an adaptive model and an associated event-triggered controller are designed by exploiting the backstepping method. In the proposed method, the feedback signals and the NN weights are aperiodically updated only when the event-triggered condition is violated. A positive lower bound on the minimum intersample time is guaranteed to avoid accumulation point. The closed-loop stability of the resulting nonlinear impulsive dynamical system is rigorously proved via Lyapunov analysis under an adaptive event sampling condition. In comparing with the traditional adaptive backstepping design with a fixed sample period, the event-triggered method samples the state and updates the NN weights only when it is necessary. Therefore, the number of transmissions can be significantly reduced. Finally, two simulation examples are presented to show the effectiveness of the proposed control method.

  15. DNA remodelling by Strict Partial Endoreplication in orchids, an original process in the plant kingdom.

    Science.gov (United States)

    Brown, Spencer C; Bourge, Mickaël; Maunoury, Nicolas; Wong, Maurice; Bianchi, Michele Wolfe; Lepers-Andrzejewski, Sandra; Besse, Pascale; Siljak-Yakovlev, Sonja; Dron, Michel; Satiat-Jeunemaître, Béatrice

    2017-04-13

    DNA remodelling during endoreplication appears to be a strong developmental characteristic in orchids. In this study, we analysed DNA content and nuclei in 41 species of orchids to further map the genome evolution in this plant family. We demonstrate that the DNA remodelling observed in 36 out of 41 orchids studied corresponds to strict partial endoreplication. Such process is developmentally regulated in each wild species studied. Cytometry data analyses allowed us to propose a model where nuclear states 2C, 4E, 8E, etc. form a series comprising a fixed proportion, the euploid genome 2C, plus 2 to 32 additional copies of a complementary part of the genome. The fixed proportion ranged from 89% of the genome in Vanilla mexicana down to 19% in V. pompona, the lowest value for all 148 orchids reported. Insterspecific hybridisation did not suppress this phenomenon. Interestingly, this process was not observed in mass-produced epiphytes. Nucleolar volumes grow with the number of endocopies present, coherent with high transcription activity in endoreplicated nuclei. Our analyses suggest species-specific chromatin rearrangement. Towards understanding endoreplication, V. planifolia constitutes a tractable system for isolating the genomic sequences that confer an advantage via endoreplication from those that apparently suffice at diploid level. © The Author(s) 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  16. Strictly hyperbolic models of co-current three-phase flow withgravity

    Energy Technology Data Exchange (ETDEWEB)

    Juanes, Ruben; Patzek, Tadeusz W.

    2002-11-18

    We study the character of the equations in the traditional formulation of one-dimensional immiscible three-phase flow with gravity, in the limit of negligible capillarity. We restrict our analysis to co-current flow required for a displacement process; in cases of mixed co-current and counter-current flow, capillarity effects cannot be dropped from the formulation. The model makes use of the classical multiphase extension of Darcy's equation. It is well known that, if relative permeabilities are taken as fixed functions of saturations, the model yields regions in the saturation space where the system of equations is locally elliptic. We regard elliptic behavior as a nonphysical artifact of an incomplete formulation, and derive conditions on the relative permeabilities that ensure strict hyperbolicity of the governing equations. The key point is to acknowledge that a Darcy-type formulation is insufficient to capture all the physics of three-phase flow and that, consequently, the relative permeabilities are functionals that depend on the fluid viscosity ratio and the gravity number. The derived conditions are consistent with the type of displacements that take place in porous media. By means of an illustrative example, we show how elliptic behavior can be removed, even when using simplistic relative permeability models.

  17. Clinical impact of strict criteria for selectivity and lateralization in adrenal vein sampling.

    Science.gov (United States)

    Gasparetto, Alessandro; Angle, John F; Darvishi, Pasha; Freeman, Colbey W; Norby, Ray G; Carey, Robert M

    2015-04-01

    Selectivity index (SI) and lateralization index (LI) thresholds determine the adequacy of adrenal vein sampling (AVS) and the degree of lateralization. The purpose of this study was investigate the clinical outcome of patients whose adrenal vein sampling was interpreted using "strict criteria" (SC) (SIpre-stimuli≥3, SIpost-stimuli≥5 and LIpre-stimuli≥4, LIpost-stimuli≥4). A retrospective review of 73 consecutive AVS procedures was performed and 67 were technically successful. Forty-three patients showed lateralization and underwent surgery, while 24 did not lateralize and were managed conservatively. Systolic blood pressure (SBP), diastolic blood pressure (DBP), kalemia (K(+)), and the change in number of blood pressure (BP) medications were recorded for each patient before and after AVS and potential surgery were performed. In the surgery group, BP and K(+) changed respectively from 160±5.3/100±2.0 mmHg to 127±3.3/80±1.9 (p blood pressure medications were six (14.0%) in the lateralized group and 22 (91.7%) in the non-lateralized group (p <0.001). AVS interpretation with SC leads to significant clinical improvement in both patients who underwent surgery and those managed conservatively.

  18. Generalized mechanical pain sensitivity over nerve tissues in patients with strictly unilateral migraine.

    Science.gov (United States)

    Fernández-de-las-Peñas, César; Arendt-Nielsen, Lars; Cuadrado, María Luz; Pareja, Juan A

    2009-06-01

    No study has previously analyzed pressure pain sensitivity of nerve trunks in migraine. This study aimed to examine the differences in mechanical pain sensitivity over specific nerves between patients with unilateral migraine and healthy controls. Blinded investigators assessed pressure pain thresholds (PPT) over the supra-orbital nerves (V1) and peripheral nerve trunks of both upper extremities (median, radial, and ulnar nerves) in 20 patients with strictly unilateral migraine and 20 healthy matched controls. Pain intensity after palpation over both supra-orbital nerves was also assessed. A pressure algometer was used to quantify PPT, whereas a 10-point numerical pain rate scale was used to evaluate pain to palpation over the supra-orbital nerve. The analysis of covariance revealed that pain to palpation over the supra-orbital nerve was significantly higher (P0.6). In patients with unilateral migraine, we found increased mechano-sensitivity of the supra-orbital nerve on the symptomatic side of the head. Outside the head, the same patients showed increased mechano-sensitivity of the main peripheral nerves of both upper limbs, without asymmetries. Such diffuse hypersensitivity of the peripheral nerves lends further evidence to the presence of a state of hyperexcitability of the central nervous system in patients with unilateral migraine.

  19. Sexual compatibility among different host-originated isolates of Aphelenchoides besseyi and the inheritance of the parasitism.

    Directory of Open Access Journals (Sweden)

    Shu-Hua Hsieh

    Full Text Available Nine isolates of Aphelenchoides besseyi from two different hosts were studied. The isolates were identified at the species level according to morphometrics and fine structures observed under a scanning electron microscope. Two fern-originated isolates, Fu, and Fm, one rice-originated isolate, Rl, were not able to reproduce from a single juvenile, based on at least 50 replicates. The other six isolates were able to develop into a small population when inoculated with a single juvenile, demonstrating parthenogenesis. Crosses between isolates were conducted. In a compatibility cross experiment, three fern-originated isolates were selfed and crossed reciprocally, and all nine crossings had viable offspring. When fern isolates were used as paternal lines, the only two successful crosses were with the Rd line, and as maternal lines, only the Ff x Re and Fu x Rn crosses had viable offspring. Rl was used as the maternal line and Fm as the paternal line to study the inheritance of the bird's-nest fern parasitism. Twenty of the 80 attempted crosses resulted in viable offspring and among these; six lines had the ability to parasitize on the bird's-nest fern. When the F(1 lines were back-crossed to the Rl maternal line, 20 viable offspring lines were obtained and among them 4 were able to parasitize bird's-nest fern. These results indicate that bird's-nest fern parasitism can be transferred to new generations by cross fertilization.

  20. Inheritance and identification of SCAR marker linked to bacterial wilt ...

    African Journals Online (AJOL)

    In the present work, the combinations (F1) were crossed between highly resistant and susceptible to bacterial wilt eggplant parents and its F2, BC1 segregation population plants were inoculated with race1 of Ralstonia solanacearum in greenhouse. In this paper, we reported that the inheritance of bacterial wilt resistance in ...

  1. The pattern of inherited microcephaly and role of the ...

    African Journals Online (AJOL)

    EPHA USER33

    recessive pattern inherited disorder who attended the centers of Khuzestan state welfare organization, southwestern. Iran during 2011 to ... environmental factors affect mental health response, these factors are believed play crucial role in reducing the incidence of .... microcephaly in a family with a history of disability was.

  2. Inheritance of blast resistance and identification of SSR marker ...

    Indian Academy of Sciences (India)

    2013-08-02

    Aug 2, 2013 ... An F2 population was developed from a cross between rice. (Oryza sativa L.) genotypes, EK 70 (highly susceptible to blast) and RDN 98-2-3-5-14 (resistant to blast), to study the inheritance of blast resistance and to identify the marker associated with resistance. The F2 population segregated in 3:1 ratio for ...

  3. Illusions of controlling the future: Risk and genetic inheritance.

    Science.gov (United States)

    Finkler, Kaja

    2003-01-01

    The aim of this paper is to analyse the implications of current beliefs that human beings can control the risk of inheriting a genetic disease and influence their present and future health. To accomplish this goal, materials will be drawn from disparate literatures bearing on concepts of probability, risk and genetic inheritance, and on empirical data gathered on cancer survivors and healthy persons with a family history of cancer. The concept of risk has been theorised on a grand scale but, as Lupton (1999, Introduction, Risk and Sociological Theory , Cambridge University Press) correctly observes, there has been very little empirical work done on how people experience risk as part of their lived world. In this paper, notions of probabilities and risk will be examined as applied to beliefs in genetic inheritance that are shaped by historical and cultural forces and in turn how they shape people's lives. It will be proposed that the belief that knowledge of one's genetic inheritance can control one's future health and disease is an illusion, and also replicates in part a religious notion of predestination.

  4. inheritance of resistance to turcicum leaf blight in sorghum abstract ...

    African Journals Online (AJOL)

    Prof. Adipala Ekwamu

    with resistance against E. turcicum is the most cost-effective way to manage the disease. However there is paucity of information needed to support resistance breeding. The objective of this work was to determine the mode of inheritance of resistance to TLB on sorghum using disease response of segregating lines and.

  5. An inheritance complexity metric for object-oriented code: A ...

    Indian Academy of Sciences (India)

    An inheritance complexity metric for object-oriented code: A cognitive approach ... Software metrics; object-oriented programming; software complexity; cognitive weights; measurement theory; empirical validation. ... In this paper, we propose a cognitive complexity metric for evaluating design of object-oriented (OO) code.

  6. Mortality in inherited cardiac diseases: directing care in affected families

    NARCIS (Netherlands)

    Nannenberg, E.A.

    2014-01-01

    Many patients with an inherited cardiac disease face a substantial mortality risk, due to arrhythmias (sudden cardiac death), heart failure or embolic stroke. Knowledge about the mortality of diseases can help doctors and patients to make decisions on (timing of) treatment, screening strategies,

  7. Inheritance of resistance to angular leaf spot in yellow beans ...

    African Journals Online (AJOL)

    Angular leaf spot (Phaeoisariopsis griseola (Sacc) is an important disease of common bean (Phaseolus vulgaris L.) in most parts of Africa, causing yield losses of 40-80%. This study was carried out to determine the inheritance of resistance to angular leaf spot in yellow beans. Biparental crosses were done between ...

  8. An Elementary Semantics for Cardelli's System of Multiple Inheritance

    NARCIS (Netherlands)

    Fokkinga, M.M.

    1987-01-01

    In [Cardelli 84] Luca Cardelli gave a formal definition of a typed object-oriented language incorporating a sub-type relation used to describe multiple inheritance. Cardelli's fundamental result was a semantics for his system that enabled sub-typing to be modelled as straightforward set-inclusion.

  9. (Lathyrus sativus L.): origin, morphology, inheritance and linkage ...

    Indian Academy of Sciences (India)

    Dibyendu Talukdar

    2018-04-06

    Apr 6, 2018 ... Indian Academy of Sciences https://doi.org/10.1007/s12041-018-0924-x. RETRACTION NOTE. Retraction Note to: Dwarf mutations in grass pea (Lathyrus sativusL.): origin, morphology, inheritance and linkage studies. DIBYENDU TALUKDAR. Department of Botany, University of Kalyani, Kalyani 741 235, ...

  10. The Right to Property and Inheritance in the Old Testament

    Directory of Open Access Journals (Sweden)

    Adrian Vasile

    2016-01-01

    Inheritance has for ever played an important part in human societies and it still does in certainareas of the world. The Jewish right to succession had some features that derived from thepatriarchal family, which had been thoroughly established even before the age of stateconsolidation.

  11. digenic inheritance with three mutations in two cystinuria genes

    Indian Academy of Sciences (India)

    one family) (Dello Strologo et al. 2002). We report here a rare digenic inheritance in a patient with cystinuria type AA (B) with mild clinical characteristics (sin- gle urinary stone) and with a family amino acid excretion of a mixed heterozygous type. Materials and methods. The proband is an 11 year–old boy who was born in a ...

  12. Inheritance of determinants of flower colour in tetraploid roses

    NARCIS (Netherlands)

    Gitonga, V.W.; Stolker, R.; Ribot, S.A.; Keizer, L.C.P.; Koning-Boucoiran, C.F.S.; Krens, F.A.

    2009-01-01

    The choice of selection breeding for crop improvement in cut roses requires a better understanding of biological mechanisms and knowledge of the inheritance of the major target traits which can lead to new or improved screening methods. Colour is still the most important trait in cut roses. A

  13. Concepts of Kinship Relations and Inheritance in Childhood and Adolescence

    Science.gov (United States)

    Williams, Joanne M.; Smith, Lesley A.

    2010-01-01

    This paper examines the development and consistency of children's (4, 7, 10, and 14 years) naive concepts of inheritance using three tasks. A modified adoption task asked participants to distinguish between biological and social parentage in their predictions and explanations of the origins of different feature types (physical characteristics,…

  14. genetics and inheritance of seed dormancy inflicted by seed

    African Journals Online (AJOL)

    Mgina

    ABSTRACT. The study was undertaken to investigate the genetic mode of inheritance of dormancy imposed by the hull (seed coat) in rice seeds. Freshly harvested seeds of parents, F1 and F2 populations of a cross between a dormant cultivar Kisegese and non-dormant strain K2004 were used. Germination test of the ...

  15. Sexual behaviour and inheritance rights among HIV- positive ...

    African Journals Online (AJOL)

    In developing countries, culture favours males for economic ventures more than females. There is evidence that allowing HIV positive women inheritance rights will mitigate negative economic consequences of HIV/AIDS and other related risks. This study aimed to examine the extent to which HIV positive women have ...

  16. Vena porta thrombosis in patient with inherited factor VII deficiency

    DEFF Research Database (Denmark)

    Klovaite, Jolanta; Friis-Hansen, Lennart Jan; Larsen, Fin S

    2010-01-01

    with inherited FVII deficiency and chronic vena porta thrombosis. She presented at 32 weeks of gestation with spontaneously increased international normalized ratio, severe thrombocytopenia and very few unspecific symptoms. The extensive examination of the patient revealed cavernous transformation of the portal...

  17. Colonial Inheritance, Postcolonial Neglect, and the Management of ...

    African Journals Online (AJOL)

    Colonial Inheritance, Postcolonial Neglect, and the Management of Nigerian Railway by Rail India Technical and Economic Services (RITES) ... This was because RITES got a limited brief of simply rehabilitating NR‟s operations and infrastructure. Nonetheless, had the government built on the reforms carried out, the ...

  18. Inheritance and segregation of exogenous genes in transgenic cotton

    Indian Academy of Sciences (India)

    Three transgenic cotton varieties (lines) were chosen for the study of inheritance and segregation of foreign Bt (Bacillus thuringiensis toxin) and tfdA ... Bt (Bacillus thuringiensis) gene and express the CryIA insecticidal proteins for ... Identification of insect resistance: At six-to-eight-leaf stage, three to five bollworms were ...

  19. [Catecholaminergic polymorphic ventricular tachycardia is a rare inherited heart disease.

    DEFF Research Database (Denmark)

    Holst, Anders Gaarsdal; Tfelt-Hansen, 1jacob; Olesen, Morten S

    2010-01-01

    Catecholaminergic polymorphic ventricular tachycardia is a rare inherited heart disease, which can lead to life-threatening ventricular arrhythmias in patients with a structurally normal heart. The age of onset is usually between two and 12 years and the initial symptom is frequently syncope...

  20. PHENYLKETONURIA, AN INHERITED METABOLIC DISORDER ASSOCIATED WITH MENTAL RETARDATION.

    Science.gov (United States)

    CENTERWALL, WILLARD R.; CENTERWALL, SIEGRIED A.

    ADDRESSED TO PUBLIC HEALTH WORKERS AND PHYSICIANS IN GENERAL PRACTICE, THE PAMPHLET INTRODUCES METHODS OF DETECTING AND MANAGING PHENYLKETONURIA, AN INHERITED METABOLIC DISORDER ASSOCIATED WITH MENTAL RETARDATION. INFORMATION, UPDATED FROM THE 1961 EDITION, IS INCLUDED ON THE INCIDENCE AND GENETICS, BIOCHEMISTRY, AND CLINICAL COURSE OF THE…

  1. Elucidation of the molecular genetic basis of inherited hearing impairment

    NARCIS (Netherlands)

    Luijendijk, Mirjam Wilhelmina Johanna

    2006-01-01

    Hearing loss is the most common sensory disorder in the human population. It affects 0.1% of all young children and by the age of 70, 30% of the population suffers from hearing loss greater than 40 dB. When early onset hearing loss is inherited, 70% is classified as nonsyndromic and 30% as

  2. What Are the Chances My Child Will Inherit a Condition?

    Science.gov (United States)

    ... the pair may be able to do the work by itself. Whether your child will have a genetic condition depends on two ... Twitter YouTube RSS Genetics and Health How Genes ... My Child Inherit a Condition? Information & Support Genetic Disease Information ...

  3. inheritance of resistance to common bacterial blight in common

    African Journals Online (AJOL)

    Prof. Adipala Ekwamu

    Pastor-Corrales, 1991; Zapata et al., 2009; 2010). Quantitative inheritance was observed by Honna. (1956) after making original interspecific crosses between resistant P. acutifolius 'tepary 4' and susceptible P. vulgaris. It is also critical to have durable sources of resistance to Xap. Sources of resistance to Xap in common ...

  4. Darwin's Invention: Inheritance & the "Mad Dream" of Pangenesis

    Science.gov (United States)

    McComas, William F.

    2012-01-01

    This article recounts the story of the development of pangenesis, a principle proposed by Charles Darwin to describe the rules of inheritance and the source of new variation, two concepts vital to his proposal of evolution by natural selection. Historical accounts such as this are infrequently included in texts and classroom discussions but can…

  5. Challenges identified in the management of patients with inherited ...

    African Journals Online (AJOL)

    Background: Pakistan is the sixth most populous country in the World. High rates of consanguinity and inter caste marriages have resulted in a substantial burden of inherited metabolic disorders (IMDs). Despite this load, there is a dearth of both medical genetic and clinical metabolic services in Pakistan. There are ...

  6. Inheritance and identification of SCAR marker linked to bacterial wilt ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-10-19

    Oct 19, 2009 ... In the present work, the combinations (F1) were crossed between highly resistant and susceptible to bacterial wilt eggplant parents and its F2, BC1 segregation population plants were inoculated with race1 of Ralstonia solanacearum in greenhouse. In this paper, we reported that the inheritance of bacterial ...

  7. Inheritance of pigmentation patterns in Talinum triangulare (Jacq ...

    African Journals Online (AJOL)

    The segregation patterns for petal and filament colour in all the generations indicate incomplete dominance of deep pink colour over white colour showing that the same gene conditions their inheritance in a monohybrid form and this gene exhibits a pleiotropic effect on the filament colour. The segregation pattern for stigma ...

  8. inheritance of resistance to sesame gall midge in uganda abstract ...

    African Journals Online (AJOL)

    ACSS

    The estimates of genetic effects for resistance to sesame gall midge, showed predominance of additive and additive x additive type of epistasis in the inheritance of the resistance, though dominance also had a role in the cross Sesim1 x 7020-1-2. Key Words: Asphondylia sesami, combining ability, GCA, Sesamum indicum.

  9. Genetic adaptability of inheritance of resistance to biotic and abiotic ...

    African Journals Online (AJOL)

    Several studies that attempt to identify the genetic basis of quantitative traits ignore the presence of epistatic effects and theirs role in plant genetic adaptability. Epistasis has been detected in the inheritance of many quantitative traits on crop. Moreover, generation means analysis of several traits assessed in diverse ...

  10. Character association and inheritance studies of different sorghum ...

    African Journals Online (AJOL)

    Cyanide poisoning is the major problem in sorghum fodder. This poisoning results in livestock mortality and causes economic loss to the people. Some work have been reported on quantity but little work has been focused on quality especially the cyanide content in sorghum fodder in Pakistan. Inheritance mechanism for ...

  11. Several methods to detect the inheritance and resistance to the ...

    African Journals Online (AJOL)

    Majority of the transgenic plants had only a single copy of the inserted CryIA(c) gene. Leaf section bioassays showed that resistance against larvae of diamondback moth in CryIA(c) transgenic cabbage was significantly enhanced. The inheritance patterns of the transgene in T1 offspring of transgenic cabbage were ...

  12. A Study of Genetics Using Two Simple Mendelian Inheritance ...

    African Journals Online (AJOL)

    A study was carried out to create an awareness of the significance of genetics and show how people differ.Three hundred and fifty five Students of DELTA STATE UNIVERSITY from the Niger Delta region of. Nigeria were examined to know the percentage of the population that had inherited traits such as widow's peak and ...

  13. Channelopathies - Emerging Trends in The Management of Inherited Arrhythmias

    Directory of Open Access Journals (Sweden)

    Priya Chockalingam, MBBS, MRCPCH, PhD

    2015-01-01

    Full Text Available In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and identifying and protecting affected family members. This has been made possible by the vast advances in the field of molecular biology enabling better understanding of the genetic underpinnings of some of these disease groups, namely congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. The ensuing knowledge of the genotype-phenotype correlations enables us to risk-stratify, prognosticate and treat based on the genetic test results. The various diagnostic modalities currently available to us, including clinical tools and genetic technologies, have to be applied judiciously in order to promptly identify those affected and to spare the emotional burden of a potentially lethal disease in the unaffected individuals. The therapeutic armamentarium of inherited arrhythmias includes pharmacological agents, device therapies and surgical interventions. A treatment strategy keeping in mind the risk profile of the patients, the local availability of drugs and the expertise of the treating personnel is proving effective. While opportunities for research are numerous in this expanding field of medicine, there is also tremendous scope for incorporating the emerging trends in managing patients and families with inherited arrhythmias in the Indian subcontinent.

  14. Rare inherited kidney diseases: challenges, opportunities, and perspectives.

    NARCIS (Netherlands)

    Devuyst, O.; Knoers, N.V.A.M.; Remuzzi, G.; Schaefer, F.; Bindels, R.J.; et al.,

    2014-01-01

    At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when their disease progresses and can remain alive for many years because of advances in organ-replacement therapy. However, these disorders substantially

  15. 3. Pattern of Inheritance of Autosome and Sex. Chromosome Linked ...

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 4; Issue 10. Teaching and Learning Genetics with Drosophila – Pattern of Inheritance of Autosome and Sex Chro-mosome Linked Genes/Characters. H A Ranganath M T Tanuja. Classroom Volume 4 Issue 10 October 1999 pp 78-87 ...

  16. Inheritance and segregation of exogenous genes in transgenic cotton

    Indian Academy of Sciences (India)

    The results confirm inheritance and segregation of. the exogenous Bt gene in transgenic CCRI 30 and NewCott 33B, governing resistance to bollworm, and; the exogenous tfdA gene in transgenic TFD, governing resistance to the herbicide 2,4-D. Both resistance characters were governed by a single dominant nuclear gene ...

  17. [Maternal death: unequal risks].

    Science.gov (United States)

    Defossez, A C; Fassin, D

    1989-01-01

    Nearly 99% of maternal deaths in the world each year occur in developing countries. New efforts have recently been undertaken to combat maternal mortality through research and action. The medical causes of such deaths are coming to be better understood, but the social mechanisms remain poorly grasped. Maternal mortality rates in developing countries are difficult to interpret because they tend to exclude all deaths not occurring in health care facilities. The countries of Europe and North America have an average maternal mortality rate of 30/100,000 live births, representing about 6000 deaths each year. The developing countries of Asia, Africa, and Latin America have rates of 270-640/100,000, representing some 492,000 deaths annually. For a true comparison of the risks of maternal mortality in different countries, the risk itself and the average number of children per woman must both be considered. A Nigerian woman has 375 times greater risk of maternal death than a Swedish woman, but since she has about 4 times more children, her lifetime risk of maternal death is over 1500 times greater than that of the Swedish woman. The principal medical causes of maternal death are known: hemorrhages due to placenta previa or retroplacental hematoma, mechanical dystocias responsible for uterine rupture, toxemia with eclampsia, septicemia, and malaria. The exact weight of abortion in maternal mortality is not known but is probably large. The possible measures for improving such rates are of 3 types: control of fertility to avoid early, late, or closely spaced pregnancies; effective medical surveillance of the pregnancy to reduce the risk of malaria, toxemia, and hemorrhage, and delivery in an obstetrical facility, especially for high-risk pregnancies. Differential access to high quality health care explains much of the difference between mortality rates in urban and rural, wealthy and impoverished areas of the same country. The social determinants of high maternal mortality

  18. Strict Criteria for Selection of Laparoscopy for Women with Adnexal Mass

    Science.gov (United States)

    Sallum, Luis Felipe; Sarian, Luis Otávio; Bastos, Joana Fróes Bragança; Derchain, Sophie

    2014-01-01

    Objectives: We compared the indication of laparoscopy for treatment of adnexal masses based on the risk scores and tumor diameters with the indication based on gynecology-oncologists' experience. Methods: This was a prospective study of 174 women who underwent surgery for adnexal tumors (116 laparotomies, 58 laparoscopies). The surgeries begun and completed by laparoscopy, with benign pathologic diagnosis, were considered successful. Laparoscopic surgeries that required conversion to laparotomy, led to a malignant diagnosis, or facilitated cyst rupture were considered failures. Two groups were defined for laparoscopy indication: (1) absence of American College of Obstetrics and Gynecology (ACOG) guideline for referral of high-risk adnexal masses criteria (ACOG negative) associated with 3 different tumor sizes (10, 12, and 14 cm); and (2) Index of Risk of Malignancy (IRM) with cutoffs at 100, 200, and 300, associated with the same 3 tumor sizes. Both groups were compared with the indication based on the surgeon's experience to verify whether the selection based on strict rules would improve the rate of successful laparoscopy. Results: ACOG-negative and tumors ≤10 cm and IRM with a cutoff at 300 points and tumors ≤10cm resulted in the same best performance (78% success = 38/49 laparoscopies). However, compared with the results of the gynecology-oncologists' experience, those were not statistically significant. Discussion: The selection of patients with adnexal mass to laparoscopy by the use of the ACOG guideline or IRM associated with tumor diameter had similar performance as the experience of gynecology-oncologists. Both methods are reproducible and easy to apply to all women with adnexal masses and could be used by general gynecologists to select women for laparoscopic surgery; however, referral to a gynecology-oncologist is advisable when there is any doubt. PMID:25392617

  19. Strict Host-Symbiont Cospeciation and Reductive Genome Evolution in Insect Gut Bacteria

    Science.gov (United States)

    Hosokawa, Takahiro; Kikuchi, Yoshitomo; Nikoh, Naruo; Shimada, Masakazu; Fukatsu, Takema

    2006-01-01

    Host-symbiont cospeciation and reductive genome evolution have been identified in obligate endocellular insect symbionts, but no such example has been identified from extracellular ones. Here we first report such a case in stinkbugs of the family Plataspidae, wherein a specific gut bacterium is vertically transmitted via “symbiont capsule.” In all of the plataspid species, females produced symbiont capsules upon oviposition and their gut exhibited specialized traits for capsule production. Phylogenetic analysis showed that the plataspid symbionts constituted a distinct group in the γ-Proteobacteria, whose sister group was the aphid obligate endocellular symbionts Buchnera. Removal of the symbionts resulted in retarded growth, mortality, and sterility of the insects. The host phylogeny perfectly agreed with the symbiont phylogeny, indicating strict host-symbiont cospeciation despite the extracellular association. The symbionts exhibited AT-biased nucleotide composition, accelerated molecular evolution, and reduced genome size, as has been observed in obligate endocellular insect symbionts. These findings suggest that not the endocellular conditions themselves but the population genetic attributes of the vertically transmitted symbionts are probably responsible for the peculiar genetic traits of these insect symbionts. We proposed the designation “Candidatus Ishikawaella capsulata” for the plataspid symbionts. The plataspid stinkbugs, wherein the host-symbiont associations can be easily manipulated, provide a novel system that enables experimental approaches to previously untouched aspects of the insect-microbe mutualism. Furthermore, comparative analyses of the sister groups, the endocellular Buchnera and the extracellular Ishikawaella, would lead to insights into how the different symbiotic lifestyles have affected their genomic evolution. PMID:17032065

  20. Stella modulates transcriptional and endogenous retrovirus programs during maternal-to-zygotic transition.

    Science.gov (United States)

    Huang, Yun; Kim, Jong Kyoung; Do, Dang Vinh; Lee, Caroline; Penfold, Christopher A; Zylicz, Jan J; Marioni, John C; Hackett, Jamie A; Surani, M Azim

    2017-03-21

    The maternal-to-zygotic transition (MZT) marks the period when the embryonic genome is activated and acquires control of development. Maternally inherited factors play a key role in this critical developmental process, which occurs at the 2-cell stage in mice. We investigated the function of the maternally inherited factor Stella (encoded by Dppa3 ) using single-cell/embryo approaches. We show that loss of maternal Stella results in widespread transcriptional mis-regulation and a partial failure of MZT. Strikingly, activation of endogenous retroviruses (ERVs) is significantly impaired in Stella maternal/zygotic knockout embryos, which in turn leads to a failure to upregulate chimeric transcripts. Amongst ERVs, MuERV-L activation is particularly affected by the absence of Stella, and direct in vivo knockdown of MuERV-L impacts the developmental potential of the embryo. We propose that Stella is involved in ensuring activation of ERVs, which themselves play a potentially key role during early development, either directly or through influencing embryonic gene expression.

  1. Rural maternity care.

    Science.gov (United States)

    Miller, Katherine J; Couchie, Carol; Ehman, William; Graves, Lisa; Grzybowski, Stefan; Medves, Jennifer

    2012-10-01

    To provide an overview of current information on issues in maternity care relevant to rural populations. Medline was searched for articles published in English from 1995 to 2012 about rural maternity care. Relevant publications and position papers from appropriate organizations were also reviewed. This information will help obstetrical care providers in rural areas to continue providing quality care for women in their communities. Recommendations 1. Women who reside in rural and remote communities in Canada should receive high-quality maternity care as close to home as possible. 2. The provision of rural maternity care must be collaborative, woman- and family-centred, culturally sensitive, and respectful. 3. Rural maternity care services should be supported through active policies aligned with these recommendations. 4. While local access to surgical and anaesthetic services is desirable, there is evidence that good outcomes can be sustained within an integrated perinatal care system without local access to operative delivery. There is evidence that the outcomes are better when women do not have to travel far from their communities. Access to an integrated perinatal care system should be provided for all women. 5. The social and emotional needs of rural women must be considered in service planning. Women who are required to leave their communities to give birth should be supported both financially and emotionally. 6. Innovative interprofessional models should be implemented as part of the solution for high-quality, collaborative, and integrated care for rural and remote women. 7. Registered nurses are essential to the provision of high-quality rural maternity care throughout pregnancy, birth, and the postpartum period. Maternity nursing skills should be recognized as a fundamental part of generalist rural nursing skills. 8. Remuneration for maternity care providers should reflect the unique challenges and increased professional responsibility faced by providers in

  2. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    OBJECTIVE: To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. METHODS: From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome

  3. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome

  4. Mendelian inheritance, genetic linkage, and genotypic disequilibrium for nine microsatellite loci in Cariniana estrellensis (Raddi) Kuntze (Lecythidaceae).

    Science.gov (United States)

    Kubota, T Y K; Silva, A M; Cambuim, J; Silva, A A; Pupin, S; Silva, M S; Moraes, M A; Moraes, M L T; Sebbenn, A M

    2017-05-04

    Cariniana estrellensis is one of the largest trees found in Brazilian tropical forests. The species is typical of advanced stages of succession, characteristic of climax forests, and essential in genetic conservation and environmental restoration plans. In this study, we assessed Mendelian inheritance, genetic linkage, and genotypic disequilibrium in nine microsatellite loci for a C. estrellensis population. We sampled and genotyped 285 adult trees and collected seeds from 20 trees in a fragmented forest landscape in Brazil. Based on maternal genotypes and their seeds, we found no deviation from the expected 1:1 Mendelian segregation and no genetic linkage between pairwise loci. However, for adults, genotypic disequilibrium was detected for four pairs of loci, suggesting that this result was not caused by genetic linkage. Based on these results, we analyzed microsatellite loci that are suitable for use in population genetic studies assessing genetic diversity, mating system, and gene flow in C. estrellensis populations.

  5. Analyses des discours non strictement mathematiques accompagnant des cours de mathematiques (Analysis of Not Strictly Mathematical Discourse in Mathematics Classes).

    Science.gov (United States)

    Robert, Aline

    1995-01-01

    Examines discourse, not strictly mathematical, that teachers might adopt in a mathematics class and presents three major functions of such discourse: communication; structuring and labeling; and reflection. Develops lines for further inquiry, notably on the third function, the most likely focus for specific preparation by the teacher. (13…

  6. Properties of N-person axiomatic bargaining solutions if the Pareto frontier is twice differentiable and strictly concave

    NARCIS (Netherlands)

    Douven, R.C.M.H.; Engwerda, J.C.

    1995-01-01

    In this paper we discuss properties of N-person axiomatic bargaining problems, where the Pareto frontier of S can be described by a strictly concave and twice differentiable function. These type of problems are characteristic for the empirical policy coordination literature. In that literature the

  7. Convergence of Implicit and Explicit Schemes for an Asymptotically Nonexpansive Mapping in -Uniformly Smooth and Strictly Convex Banach Spaces

    Directory of Open Access Journals (Sweden)

    Meng Wen

    2012-01-01

    Full Text Available We introduce a new iterative scheme with Meir-Keeler contractions for an asymptotically nonexpansive mapping in -uniformly smooth and strictly convex Banach spaces. We also proved the strong convergence theorems of implicit and explicit schemes. The results obtained in this paper extend and improve many recent ones announced by many others.

  8. A non-permselective membrane reactor for chemical processes normally requiring strict stoichiometric feed rates of reactants

    NARCIS (Netherlands)

    Sloot, H.J.; Versteeg, Geert; van Swaaij, Willibrordus Petrus Maria

    1990-01-01

    A novel type of membrane reactor with separated feeding of the reactants is presented for chemical processes normally requiring strict stoichiometric feed rates of premixed reactants. The reactants are fed in the reactor to the different sides of a porous membrane which is impregnated with a

  9. Strict Fathers, Competing Culture(s), and Racialized Poverty: White South African Teachers' Conceptions of Themselves as Racialized Actors

    Science.gov (United States)

    Casey, Zachary A.

    2016-01-01

    This article focuses in particular on four white South African female practicing P-12 teachers' narratives about their own racialized understanding of their classroom practice(s) and their (racio-cultural) self-identity. Each of the four participants reported growing up with what they described as "strict fathers" and shared ways in…

  10. [The establishment of research inherit mode of famous academic thoughts].

    Science.gov (United States)

    Zhou, Xue-ping; Wu, Mian-hua; Guo, Wei-feng

    2011-12-01

    To study and summarize the academic thoughts of famous Chinese medicine doctors is the main pathway of developing Chinese medicine theories. It is of important significance in enriching and developing the Chinese medicine theories by combining traditional and modern research methods, merging multiple disciples to study the research inherit mode of famous academic thoughts. The major study links include: (1) To refine scientific hypotheses from huge amount of clinical case records; (2) To find the literature sources; (3) To embody the practice significance of the innovative theories by clinical studies; (4) To reveal the scientific connotation of Chinese medicine theories by experimental studies. We hope to reach the goal of innovating and developing Chinese medicine theories on the basis of inheritance by integrating clinical case records, tracing the literature sources, clinical and experimental studies.

  11. A Unification of Inheritance and Automatic Program Specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2004-01-01

    , inheritance is used to control the automatic application of program specialization to class members during compilation to obtain an efficient implementation. This paper presents the language JUST, which integrates object-oriented concepts, block structure, and techniques from automatic program specialization......The object-oriented style of programming facilitates program adaptation and enhances program genericness, but at the expense of efficiency. Automatic program specialization can be used to generate specialized, efficient implementations for specific scenarios, but requires the program...... to be structured appropriately for specialization and is yet another new concept for the programmer to understand and apply. We have unified automatic program specialization and inheritance into a single concept, and implemented this approach in a modified version of Java named JUST. When programming in JUST...

  12. Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

    Science.gov (United States)

    Yu-Wai-Man, Patrick

    2016-10-01

    Rare genetic diseases affect about 7% of the general population and over 7000 distinct clinical syndromes have been described with the majority being due to single gene defects. This review will provide a critical overview of genetic strategies that are being pioneered to halt or reverse disease progression in inherited neurodegenerative diseases. This field of research covers a vast area and only the most promising treatment paradigms will be discussed with a particular focus on inherited eye diseases, which have paved the way for innovative gene therapy paradigms, and mitochondrial diseases, which are currently generating a lot of debate centred on the bioethics of germline manipulation. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  13. Demonstration of paternal inheritance of plastids in Picea (Pinaceae)

    International Nuclear Information System (INIS)

    Stine, M.

    1988-01-01

    Chloroplast DNA (cpDNA) was purified from Picea glauca, P. pungens, P. engelmannii, and P. omorika, and was digested with several restriction endonucleases. Interspecific restriction fragment length polymorphisms (RFLPs) of cpDNA were identified. The RFLPs were identified as cpDNA by the hybridization of cloned, 32 -P labeled, petunia cpDNA to the polymorphic bands, and by the lack of hybridization of a cloned and labeled mtDNA probe from maize. Chloroplast DNA RFLPs that showed no intraspecific variation when examined across the natural range for each species, were used as markers to follow the inheritance of plastids in interspecific hybrids. The inheritance of plastids was determined for F 1 -hybrids from reciprocal crosses of P. glauca and P. pungens, P. glauca and P. omorika, and F 1 -hybrids of P. engelmannii x pungens. All 31 F 1 -hybrids examined showed the cpDNA genotypes of the pollen parent, or the paternal species

  14. Tomato plant inheritance of antixenotic resistance to tomato leafminer

    Directory of Open Access Journals (Sweden)

    Adilson de Castro Antônio

    2011-01-01

    Full Text Available The objective of this work was to determine the inheritance of resistance by antixenosis in tomato plants (Lycopersicon esculentum to tomato leafminer [Tuta absoluta (Lepidoptera: Gelechiidae]. Evaluations were performed for tomato plants of the generations P1, P2, F1, F2, RC1 and RC2. The measured characteristic in the parents, BGH-1497 (P2 male and 'Santa Clara' (P1 female, and in the F1, F2, RC1 and RC2 generations was the number of eggs per plant. This number was converted to the oviposition nonpreference index. The inheritance of antixenosis resistance of genotype BGH-1497 is ruled by a gene of greater effect and polygenes in epistatic interactions, with a phenotypic proportion of 13:3 between susceptible and resistant genotypes, respectively.

  15. Endangering of Businesses by the German Inheritance Tax? – An Empirical Analysis

    OpenAIRE

    Henriette Houben; Ralf Maiterth

    2011-01-01

    This contribution addresses the substantial tax privilege for businesses introduced by the German Inheritance Tax Act 2009. Advocates of the vast or even entire tax exemption for businesses stress the potential damage of the inheritance tax on businesses, as those often lack liquidity to meet tax liability. This submission tackles this issue empirically based on data of the German Inheritance Tax Statistics and the SOEP. The results indicate that former German inheritance tax law has not enda...

  16. Inheritance for software reuse: The good, the bad, and the ugly

    Science.gov (United States)

    Sitaraman, Murali; Eichmann, David A.

    1992-01-01

    Inheritance is a powerful mechanism supported by object-oriented programming languages to facilitate modifications and extensions of reusable software components. This paper presents a taxonomy of the various purposes for which an inheritance mechanism can be used. While some uses of inheritance significantly enhance software reuse, some others are not as useful and in fact, may even be detrimental to reuse. The paper discusses several examples, and argues for a programming language design that is selective in its support for inheritance.

  17. Maternal obesity heritably perturbs offspring metabolism for three generations without serial programming.

    Science.gov (United States)

    Eaton, S A; Aiken, A J; Young, P E; Ho, J W K; Cropley, J E; Suter, C M

    2017-10-06

    Maternal obesity can program offspring metabolism across multiple generations. It is not known whether multigenerational effects reflect true inheritance of the induced phenotype, or are due to serial propagation of the phenotype through repeated exposure to a compromised gestational milieu. Here we sought to distinguish these possibilities, using the A vy mouse model of maternal obesity. In this model, F1 sons of obese dams display a predisposition to hepatic insulin resistance, which remains latent unless the offspring are challenged with a Western diet. We find that F2 grandsons and F3 great grandsons of obese dams also carry the latent predisposition to metabolic dysfunction, but remain metabolically normal on a healthy diet. Given that the breeding animals giving rise to F2 and F3 were maintained on a healthy diet, the latency of the phenotype permits exclusion of serial programming; we also confirmed that F1 females remained metabolically healthy during pregnancy. Molecular analyses of male descendants identified upregulation of hepatic Apoa4 as a consistent signature of the latent phenotype across all generations. Our results exclude serial programming as a factor in transmission of the metabolic phenotype induced by ancestral maternal obesity, and indicate inheritance through the germline, probably via some form of epigenetic inheritance.International Journal of Obesity advance online publication, 31 October 2017; doi:10.1038/ijo.2017.247.

  18. Implementing Priority Inheritance Algorithms in an Ada Runtime System

    Science.gov (United States)

    1989-04-01

    Bpp BpBpBpBpBp p:p PjP ^MMVXXXXXXXVXXXXXXXXXM^MJS.XXXXXXXX-j^H^MI^H^VXXXXXXXXXXXXXXXXXXXXXX C2 P P Bp P C2Bp Bp C2 C2 P...B-3: Basic Priority Inheritance Protocol — Example #2 CMU/SEI-89-TR-23 35 • At time f7 , T3 attempts to call server task S3. Because S3 is not

  19. Molecular basis for dominantly inherited inclusion body β-thalassemia

    International Nuclear Information System (INIS)

    Thein, S.L.; Hesketh, C.; Wood, W.G.; Clegg, J.B.; Old, J.M.; Weatherall, D.J.; Taylor, P.; Temperley, I.J.; Hutchinson, R.M.

    1990-01-01

    Analysis of the molecular basis of dominantly inherited β-thalassemia in four families has revealed different mutations involving exon 3 of the β-globin gene. It is suggested that the phenotypic difference between this condition and the more common recessive forms of β-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and, in particular, whether they are capable of binding heme and producing aggregations that are relatively resistant to proteolytic degradation

  20. Clinical and inheritance profiles of Kallmann syndrome in Jordan

    Directory of Open Access Journals (Sweden)

    Shegem Nadima S

    2004-10-01

    Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

  1. Vena porta thrombosis in patient with inherited factor VII deficiency

    DEFF Research Database (Denmark)

    Klovaite, Jolanta; Friis-Hansen, Lennart Jan; Larsen, Fin S

    2010-01-01

    with inherited FVII deficiency and chronic vena porta thrombosis. She presented at 32 weeks of gestation with spontaneously increased international normalized ratio, severe thrombocytopenia and very few unspecific symptoms. The extensive examination of the patient revealed cavernous transformation of the portal...... vein with well expressed portosystemic collaterals, heterozygosity for three common polymorphisms in FVII gene, associated with reduction in plasma FVII levels, and no other factors predisposing to thrombosis....

  2. Waardinburg syndrome — inherited deafness with pigmentary involvement

    Directory of Open Access Journals (Sweden)

    M.F. Macrae

    1979-09-01

    Full Text Available The Waardenburg syndrome was first clearly defined in 1951. The major clinical importance lies in the fact that about 20% of affected individuals are deaf. Furthermore, because the condition is inherited autosomal dominantly, there is a risk of the disorder being handed down from generation to generation. The syndrome consists of six major features which may appear in any combination and to any degree in the affected individual.

  3. Congenital and inherited renal disease of small animals.

    Science.gov (United States)

    Greco, D S

    2001-03-01

    Congenital renal diseases are present at birth and may be determined genetically; familial renal disorders occur in related animals with a higher frequency than would be expected by chance, and frequently are inherited. The most common familial disorders in cats and dogs include renal amyloidosis, renal dysplasia, polycystic kidneys, basement membrane disorders, and tubular dysfunction (Fanconi's syndrome). This article alerts the veterinarian to commonly observed congenital and hereditary conditions of the kidneys in small animals.

  4. Emulating Multiple Inheritance in Fortran 2003/2008

    OpenAIRE

    Karla Morris

    2015-01-01

    Although the high-performance computing (HPC) community increasingly embraces object-oriented programming (OOP), most HPC OOP projects employ the C++ programming language. Until recently, Fortran programmers interested in mining the benefits of OOP had to emulate OOP in Fortran 90/95. The advent of widespread compiler support for Fortran 2003 now facilitates explicitly constructing object-oriented class hierarchies via inheritance and leveraging related class behaviors such as dynamic polymor...

  5. Maternal and neonatal complications in term breech delivered vaginally

    International Nuclear Information System (INIS)

    Jadoon, S.; Jadoon, S.M.K.; Shah, R.

    2008-01-01

    To evaluate the maternal and neonatal complications in terms of genital tract trauma to mother, perinatal mortality. Apgar score at 5 minutes and neonatal trauma in all singleton term breech cases delivered vaginally. A 100 consecutive patients with singleton breech presentation, whether booked or unbooked, were admitted and delivered vaginally in hospital during the study period. They were studied for maternal and neonatal complications. Maternal complication included any genital tract trauma during delivery while neonatal complications were perinatal mortality, low Apgar score (less than eight at 5 minutes) and birth trauma. There were a total 3977 deliveries during this study period, 145 breech presentation (incidence 3.6%). Out of those, 100 were included in the study. All were unbooked cases, 87% were multigravida while 13% were primigravida. An Apgar score of eight was recorded in 87% babies while 10% had an Apgar score of less than eight after 5 minutes. There were 3 still births and one neonatal death. Aggregated perinatal mortality rate was 40/1000 live births. Only one baby had birth trauma (Erbs paralysis) during vaginal breech delivery. Ninety seven (97%) mothers had no complications while only 3 (3%) had complications. Out of these, one had cervical tear and 2 had vaginal tears. Offering a trial of vaginal breech delivery to strictly selected and well-counselled patients remains an appropriate option without compromising perinatal and maternal outcome. It also decreases the rate of operative delivery for this malpresentation. (author)

  6. Regulation of Mitochondrial Genome Inheritance by Autophagy and Ubiquitin-Proteasome System: Implications for Health, Fitness, and Fertility

    Directory of Open Access Journals (Sweden)

    Won-Hee Song

    2014-01-01

    Full Text Available Mitochondria, the energy-generating organelles, play a role in numerous cellular functions including adenosine triphosphate (ATP production, cellular homeostasis, and apoptosis. Maternal inheritance of mitochondria and mitochondrial DNA (mtDNA is universally observed in humans and most animals. In general, high levels of mitochondrial heteroplasmy might contribute to a detrimental effect on fitness and disease resistance. Therefore, a disposal of the sperm-derived mitochondria inside fertilized oocytes assures normal preimplantation embryo development. Here we summarize the current research and knowledge concerning the role of autophagic pathway and ubiquitin-proteasome-dependent proteolysis in sperm mitophagy in mammals, including humans. Current data indicate that sperm mitophagy inside the fertilized oocyte could occur along multiple degradation routes converging on autophagic clearance of paternal mitochondria. The influence of assisted reproductive therapies (ART such as intracytoplasmic sperm injection (ICSI, mitochondrial replacement (MR, and assisted fertilization of oocytes from patients of advanced reproductive age on mitochondrial function, inheritance, and fitness and for the development and health of ART babies will be of particular interest to clinical audiences. Altogether, the study of sperm mitophagy after fertilization has implications in the timing of evolution and developmental and reproductive biology and in human health, fitness, and management of mitochondrial disease.

  7. Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.

    Science.gov (United States)

    Szymańska, Krystyna; Kuśmierska, Katarzyna; Demkow, Urszula

    2015-01-01

    Neurotransmitters (NTs) play a central role in the efficient communication between neurons necessary for normal functioning of the nervous system. NTs can be divided into two groups: small molecule NTs and larger neuropeptide NTs. Inherited disorders of NTs result from a primary disturbance of NTs metabolism or transport. This group of disorders requires sophisticated diagnostic procedures. In this review we discuss disturbances in the metabolism of tetrahydrobiopterin, biogenic amines, γ-aminobutyric acid, foliate, pyridoxine-dependent enzymes, and also the glycine-dependent encephalopathy. We point to pathologic alterations of proteins involved in synaptic neurotransmission that may cause neurological and psychiatric symptoms. We postulate that synaptic receptors and transporter proteins for neurotransmitters should be investigated in unresolved cases. Patients with inherited neurotransmitters disorders present various clinical presentations such as mental retardation, refractory seizures, pyramidal and extrapyramidal syndromes, impaired locomotor patterns, and progressive encephalopathy. Every patient with suspected inherited neurotransmitter disorder should undergo a structured interview and a careful examination including neurological, biochemical, and imaging.

  8. Imperative part of the Law on Kosovo Inheritance (Comparative view

    Directory of Open Access Journals (Sweden)

    MSc. Shpresa Ibrahimi

    2013-12-01

    Full Text Available Making a testament seems to be one of the available freedoms, and most significant of the law subjects. Testament, as final declaration of the testator’s will, is considered to be one of the most significant freedoms of the same, since by declaring his will, determines the fate of his/her property heritage, earned with lots of efforts throughout life. Freedom of compiling the testament, in the Constitution of the Republic of Kosovo is guaranteed by the Law on Inheritance in Kosovo but also by the international Conventions. However, every subjective right has its limits.  Such limitation comes as a result of the care toward subjective rights of other persons, sometimes the best of the society, but the purpose of limiting such freedom in terms of inheritance, comes as result of common marital life, as a result of the care toward children and parents. Quota of the obligatory part is part of heritage that shall not be deprived, since it is guaranteed with imperative norms. This inheritance quota is presented as object for analyses and study in relation to testamentary freedom, always in a comparative view in the region and broader.

  9. Islamic Inheritance Law (Faraid and Its Economic Implication

    Directory of Open Access Journals (Sweden)

    Adelina Zuleika

    2014-03-01

    Full Text Available Objective - This paper attempts to discuss the Islamic law of inheritance (Faraid, its existence and its systematic impact to humankind. Faraid plays a fundamental role as an impetus behind the development of science, which has a great economic impact to the development of social welfare. This paper aims to increase the awareness towards the importance of Islamic law of Inheritance for knowledge development, and social prosperity of humankind. Secondly, to reveal the hikmah behind the rules set in Faraid and their economic implications. Thirdly is to emerge the consciousness for being Sharia’ compliance by revealing the secret behind His rules and its benefit for humankind.Method - Employing a qualitative method and literature reviewResult - This paper shows that from the macroeconomic perspective, Faraid systematically ensures the redistribution of wealth, and spreads the concentration of wealth in every generation. Literature reviews and information collected are employed in order to analyze and make further inferences. The literature review clarifies the magnificence of Faraid and its real contribution to human development; in economics and in other disciplines. Faraid keeps the justice in wealth distribution, protects property rights, empowers women to be involved in economic activities and as a whole, Faraid also encourages economic growth.Conclusion - Conclusively, by commissioning Faraid, the wealth is generated and returned to the factors production through many hands of who deserve it after the absence of deceased.Keywords : Islamic Inheritance Law; Faraid; Property  Rights; Distribution of Wealth

  10. Newborn Screening for inherited metabolic disorders; news and views

    Directory of Open Access Journals (Sweden)

    Morteza Pourfarzam

    2013-01-01

    Full Text Available Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and evaluation. There are major differences among many of the disorders being considered for inclusion in newborn screening programs. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS, which is more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal screening programs at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders in around two to three minutes. Advances in the diagnosis and treatment and an increased understanding of the natural history of inborn errors of metabolism have produced pressure to implement expanded newborn screening programs in many countries. Even as many countries throughout the world have made newborn screening mandatory, in Iran, nationwide newborn screening for inherited metabolic disorders other than hypothyroidism has not been initiated, hence, there is little information about these diseases. This article aims to review the recent advances in newborn metabolic screening and its situation in Iran and other countries.

  11. Inheritance and world variation in thermal requirements for egg hatch in Lymantria dispar (Lepidoptera: Erebidae)

    Science.gov (United States)

    M.A. Keena

    2016-01-01

    Mode of inheritance of hatch traits in Lymantria dispar L. was determined by crossing populations nearly fixed for the phenotypic extremes. The nondiapausing phenotype was inherited via a single recessive gene and the phenotype with reduced low temperature exposure requirements before hatch was inherited via a single dominant gene. There was no...

  12. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

    Science.gov (United States)

    Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

    1995-01-01

    Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

  13. Maternal and neonatal tetanus

    Science.gov (United States)

    Thwaites, C Louise; Beeching, Nicholas J; Newton, Charles R

    2017-01-01

    Maternal and neonatal tetanus is still a substantial but preventable cause of mortality in many developing countries. Case fatality from these diseases remains high and treatment is limited by scarcity of resources and effective drug treatments. The Maternal and Neonatal Tetanus Elimination Initiative, launched by WHO and its partners, has made substantial progress in eliminating maternal and neonatal tetanus. Sustained emphasis on improvement of vaccination coverage, birth hygiene, and surveillance, with specific approaches in high-risk areas, has meant that the incidence of the disease continues to fall. Despite this progress, an estimated 58 000 neonates and an unknown number of mothers die every year from tetanus. As of June, 2014, 24 countries are still to eliminate the disease. Maintenance of elimination needs ongoing vaccination programmes and improved public health infrastructure. PMID:25149223

  14. Orogenic structural inheritance and rifted passive margin formation

    Science.gov (United States)

    Salazar Mora, Claudio A.; Huismans, Ritske S.

    2016-04-01

    Structural inheritance is related to mechanical weaknesses in the lithosphere due to previous tectonic events, e.g. rifting, subduction and collision. The North and South Atlantic rifted passive margins that formed during the breakup of Western Gondwana, are parallel to the older Caledonide and the Brasiliano-Pan-African orogenic belts. In the South Atlantic, 'old' mantle lithospheric fabric resulting from crystallographic preferred orientation of olivine is suggested to play a role during rifted margin formation (Tommasi and Vauchez, 2001). Magnetometric and gravimetric mapping of onshore structures in the Camamu and Almada basins suggest that extensional faults are controlled by two different directions of inherited older Brasiliano structures in the upper lithosphere (Ferreira et al., 2009). In the South Atlantic Campos Basin, 3D seismic data indicate that inherited basement structures provide a first order control on basin structure (Fetter, 2009). Here we investigate the role of structural inheritance on the formation of rifted passive margins with high-resolution 2D thermo-mechanical numerical experiments. The numerical domain is 1200 km long and 600 km deep and represents the lithosphere and the sublithospheric mantle. Model experiments were carried out by creating self-consistent orogenic inheritance where a first phase of orogen formation is followed by extension. We focus in particular on the role of varying amount of orogenic shortening, crustal rheology, contrasting styles of orogen formation on rifted margin style, and the time delay between orogeny and subsequent rifted passive formation. Model results are compared to contrasting structural styles of rifted passive margin formation as observed in the South Atlantic. Ferreira, T.S., Caixeta, J.M., Lima, F.D., 2009. Basement control in Camamu and Almada rift basins. Boletim de Geociências da Petrobrás 17, 69-88. Fetter, M., 2009. The role of basement tectonic reactivation on the structural evolution

  15. Stakeholders' views on the strengths and weaknesses of maternal care financing and its reform in Georgia.

    Science.gov (United States)

    Shengelia, Lela; Pavlova, Milena; Groot, Wim

    2017-08-08

    The improvement of maternal health has been one of the aims of the health financing reforms in Georgia. Public-private relationships are the most notable part of the reform. This study aimed to assess the strengths and weakness of the maternal care financing in Georgia in terms of adequacy and effects. A qualitative design was used to explore the opinions of key stakeholders about the adequacy of maternal care financing and financial protection of pregnant women in Georgia. Women who had used maternal care during the past 4 years along with health care providers, policy makers, and representatives of international partner organizations and national professional body were the respondents in this study. Six focus group discussions to collect data from women and 15 face-to-face in-depth interviews to collect data from the other stakeholders were conducted. Each focus group discussion consisted of 7-8 women. Two focus group discussions were carried out at each of the target settings (i.e. Tbilisi, Imereti and Adjara). Women were selected in each location through the hospital registry and snowballing method. The evidence shows that there is a consensus among maternal care stakeholder groups on the influence of the healthcare financing reforms on maternal health. Specifically, the privatization of the maternal care services has had positive effects because it significantly improved the environment and technical capacity of the maternity houses. Also, in contrast to other former-soviet republics, there are no informal payments anymore for maternal care in Georgia. However the privatization, which was done without strict regulation, negatively influenced the reform process and provided the possibility to private providers to manipulate the formal user fees in maternal care. Stakeholders also indicated that the UHC programs implemented at the last stage of the healthcare financing reform as well as other state maternal health programs protect women from catastrophic health

  16. Identité stricte ou partielle et identification dans les phrases à copule. Comment les identifier ?

    Directory of Open Access Journals (Sweden)

    Amary-Coudreau Valérie

    2014-07-01

    éristiques propres à l’identité, ainsi que celles propres à la spécification et à l’identification, pour lesquelles X et Y ont des degrés de référentialité et/ou de prédicativité différents. Enfin, cette hypothèse nous amène à distinguer l’identité de l’identification, sur la base de tests qui, à l’inverse de Larreya (2003, différencient l’identité stricte de l’identité partielle.

  17. Reconfiguring Maternity Care?

    DEFF Research Database (Denmark)

    Johannsen, Nis

    at a hospital and a group of researchers which included me. Both initiatives involved numerous seemingly different interests that were held together and related to reconfiguring maternity care. None of the initiatives can unequivocally be labelled a success, as neither managed to change maternity care, at least...... different logics enable certain actions and make other actions less likely. The three logics studied are The Logic of Centring the Citizen, Patient and Pregnant Women, The Logic of Seeking Progress through IT and The Logic of Standardising through Externalisation. Engaging with the contingent processes...

  18. Severe acute maternal morbidity and maternal death audit - a rapid ...

    African Journals Online (AJOL)

    A descriptive study was performed whereby women with SAMM and maternal deaths were identified at daily audit meetings and an audit form was completed for all cases fulfilling the definition of SAMM ('near miss') and for all maternal deaths. Results. The number of maternal deaths declined slightly but not significantly ...

  19. The effects of maternal haemoglobin as an indicator of maternal ...

    African Journals Online (AJOL)

    Background: Maternal measles antibodies (MMA) are actively transferred through the placenta from mother to foetus. A relationship could exist between MMA of mother-infant pairs and maternal nutritional indicator (haemoglobin). Objectives: This study reviewed the effects of maternal haemoglobin (Hb) on MMA of ...

  20. Maternal health Indicators Signal Optimism

    African Journals Online (AJOL)

    user

    Maternal health Indicators Signal Optimism. Abraham Haileamlak, MD, Professor of Pediatrics and Child Health. Maternal health is a major health priority for international agencies and the Ethiopian. Government. Many low income countries including. Ethiopia, made substantial improvements in maternal health achieving ...

  1. Maternal obesity in Europe

    DEFF Research Database (Denmark)

    Devlieger, Roland; Benhalima, Katrien; Damm, Peter

    2016-01-01

    , the prevalence of maternal obesity varies from 7 to 25% and seems strongly related to social and educational inequalities. Obesity during pregnancy represents an important preventable risk factor for adverse pregnancy outcomes and is associated with negative long-term health outcomes for both mothers...

  2. Maternal temperature during labour

    NARCIS (Netherlands)

    Schouten, F. D.; Wolf, H.; Smit, B. J.; Bekedam, D. J.; de Vos, R.; Wahlen, I.

    2008-01-01

    OBJECTIVE: The aim of this study was to describe the variation of normal maternal temperature during labour. Design A prospective cohort study. SETTING: Two hospitals in Amsterdam, the Netherlands. POPULATION: All women with a live singleton pregnancy and a gestational age of 36 weeks or more

  3. Maternity Leave in Taiwan

    Science.gov (United States)

    Feng, Joyce Yen; Han, Wen-Jui

    2010-01-01

    Using the first nationally representative birth cohort study in Taiwan, this paper examines the role that maternity leave policy in Taiwan plays in the timing of mothers returning to work after giving birth, as well as the extent to which this timing is linked to the amount of time mothers spend with their children and their use of breast milk…

  4. Maternity Leave Policies

    Science.gov (United States)

    Strang, Lucy; Broeks, Miriam

    2017-01-01

    Abstract Over recent years many European Union countries have made changes to the design of the maternity leave provision. These policy developments reflect calls for greater gender equality in the workforce and more equal share of childcare responsibilities. However, while research shows that long period of leave can have negative effects on women's labour market attachment and career advancements, early return to work can be seen as a factor preventing exclusive breastfeeding, and therefore, potentially having negative health impacts for babies. Indeed, the World Health Organisation recommends exclusive breastfeeding up to 6 months of age to provide babies with the nutrition for healthy growth and brain development, protection from life-threatening ailments, obesity and non-communicable diseases such as asthma and diabetes. Therefore, labour market demands on women may be at odds with the health benefits for children gained by longer periods of maternity leave. The aim of this article is to examine the relationship between leave provision and health benefits for children. We examine maternity and parental leave provision across European countries and its potential impact on the breastfeeding of very young babies (up to 6-months of age). We also consider economic factors of potential extension of maternity leave provision to 6 months, such as costs to businesses, effects on the female labour market attachment, and wider consequences (benefits and costs) for individuals, families, employers and the wider society. PMID:28983432

  5. Maternal Sexuality and Breastfeeding

    Science.gov (United States)

    Bartlett, Alison

    2005-01-01

    In this paper I consider the ways in which lactation has been discussed as a form of maternal sexuality, and the implications this carries for our understanding of breastfeeding practices and sexuality. Drawing on knowledge constructed in the western world during the last half of the twentieth century, the paper identifies a shift between the…

  6. Strict liability as a legal mechanism protecting the aggrieved parties' interests within the nuclear liability regime

    International Nuclear Information System (INIS)

    Novotna, Marianna

    2016-01-01

    The no-fault liability principle of nuclear liability regime, its compensation schemes, sociological and legal grounds of its construction as well as liberation grounds are analysed. The simple existence of causation of damage and nuclear accident without necessity of proving negligence or any other type of fault on the part of the operator as an adequate basis for the operator’s strict liability is highlighted thus simplifying the litigation process eliminating potential obstacles, especially such as might exist with the burden of proof. The question of weighing the interests of society in the development of nuclear industry, the necessary extent of protection of victims of nuclear accidents and the interests of operators of nuclear facilities as main determinants of the strict nature of nuclear liability is also described. (orig.)

  7. The impact of Sleep Time-Related Information and Communication Technology (STRICT) on sleep patterns and daytime functioning in American adolescents.

    Science.gov (United States)

    Polos, Peter G; Bhat, Sushanth; Gupta, Divya; O'Malley, Richard J; DeBari, Vincent A; Upadhyay, Hinesh; Chaudhry, Saqib; Nimma, Anitha; Pinto-Zipp, Genevieve; Chokroverty, Sudhansu

    2015-10-01

    This cross-sectional study explored the extent and impact of mobile device-based Sleep Time-Related Information and Communication Technology (STRICT) use among American adolescents (N = 3139, 49.3% female, mean age = 13.3 years). Nearly 62% used STRICT after bedtime, 56.7% texted/tweeted/messaged in bed, and 20.8% awoke to texts. STRICT use was associated with insomnia, daytime sleepiness, eveningness, academic underperformance, later bedtimes and shorter sleep duration. Moderation analysis demonstrated that the association between STRICT use and insomnia increased with age, the association between STRICT use and daytime sleepiness decreased with age, and the association between STRICT use and shorter sleep duration decreased with age and was stronger in girls. Insomnia and daytime sleepiness partially mediated the relationship between STRICT use and academic underperformance. Our results illustrate the adverse interactions between adolescent STRICT use and sleep, with deleterious effects on daytime functioning. These worrisome findings suggest that placing reasonable limitations on adolescent STRICT use may be appropriate. Copyright © 2015 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.

  8. Inheritance of larval resistance to permethrin in Aedes aegypti and association with sex ratio distortion and life history variation.

    Science.gov (United States)

    Mebrahtu, Y B; Norem, J; Taylor, M

    1997-04-01

    The genetic mechanisms that confer larval permethrin resistance were investigated in two strains of Aedes aegypti, vectors of yellow fever and dengue hemorrhagic fever. Larval resistance to permethrin in an Ae. aegypti field-collected resistant Couva (R) strain was associated with the sex-determining locus by analysis of backcrosses to the susceptible Rockefeller (S) strain. The median lethal concentrations (LC50s) of these strains were 23.1 (95% confidence interval = 22.0-24.3) and 2.2 (2.0-2.3) parts/billion of permethrin, respectively. The estimated resistance ratio (RR) for the R strain was 10.8 (10.3-11.4) compared with the S strain. Resistance was inherited as partly recessive (dominance [D] = -0.31) with an estimated RR of 2.3 (2.1-2.4) in the F1 hybrids when the R parent was male. There were also significantly male-biased sex ratios for this cross. In contrast, inheritance was slightly dominant (D = 0.19) with an estimated RR of 4.1 (3.8-4.4) when the R parent was female, and no significant sex ratio bias of progeny was observed. Analysis revealed a strong paternal-strain effect in bioassay mortality, sex ratio, egg hatch, and fecundity. A maternal-strain effect was also evident for bioassay mortality. Similarly, a strong maternal by paternal strain interaction was also evident for sex ratio. Progeny of single-family backcrosses of F1 hybrids to R were statistically homogeneous for sex ratio, duration of oviposition, fecundity, and hatch rate. A significant increase in male bias was found for only one backcross to R, after treatment with permethrin. In contrast, complex patterns of inheritance of life histories were observed among backcrosses to S. Backcrosses to S had greater mean fecundities, shorter mean times to the start of oviposition, and shorter mean oviposition periods than did backcrosses to R. Hatch rates were statistically homogeneous among backcrosses, but all strikingly reduced relative to the parental generation. Times of start and duration

  9. Strict versus liberal target range for perioperative glucose in patients undergoing coronary artery bypass grafting: a prospective randomized controlled trial.

    Science.gov (United States)

    Desai, Shalin P; Henry, Linda L; Holmes, Sari D; Hunt, Sharon L; Martin, Chidima T; Hebsur, Shrinivas; Ad, Niv

    2012-02-01

    The purpose of this study was to test the hypothesis that a liberal blood glucose strategy (121-180 mg/dL) is not inferior to a strict blood glucose strategy (90-120 mg/dL) for outcomes in patients after first-time isolated coronary artery bypass grafting and is superior for glucose control and target blood glucose management. A total of 189 patients undergoing coronary artery bypass grafting were investigated in this prospective randomized study to compare 2 glucose control strategies on patient perioperative outcomes. Three methods of analyses (intention to treat, completer, and per protocol) were conducted. Observed power was robust (>80%) for significant results. The groups were similar on preoperative hemoglobin A(1c) and number of diabetic patients. The liberal group was found to be noninferior to the strict group for perioperative complications and superior on glucose control and target range management. The liberal group had significantly fewer patients with hypoglycemic events (liberal range after coronary artery bypass grafting led to similar outcomes compared with a strict target range and was superior in glucose control and target range management. On the basis of the results of this study, a target blood glucose range of 121 to 180 mg/dL is recommended for patients after coronary artery bypass grafting as advocated by the Society of Thoracic Surgeons. Copyright © 2012 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  10. Tectonic inheritance, reactivation and long term fault weakening processes

    Science.gov (United States)

    Holdsworth, Bob

    2017-04-01

    This talk gives a geological review of weakening processes in faults and their long-term effect on reactivation and tectonic inheritance during crustal deformation. Examples will be drawn from the Atlantic margins, N America, Japan and the Alps. Tectonic inheritance and reactivation are fundamentally controlled by the processes of stress concentration and shear localisation manifested at all scales in the continental lithosphere. Lithosphere-scale controls include crustal thickness, thermal age and the boundary conditions imposed by the causative plate tectonic processes during extension. At the other end of the scale range, grain-scale controls include local environmental controls (depth, stress, strain rate), rock composition, grainsize, fabric intensity and the presence of fluids or melt. Intermediate-scale geometric controls are largely related to the size, orientation and interconnectivity of pre-existing anisotropies. If reactivation of pre-existing structures occurs, it likely requires a combination of processes across all three scale ranges to be favourable. This can make the unequivocal recognition of inheritance and reactivation difficult. Large (e.g. crustal-scale) pre-existing structures are especially important due to their ability to efficiently concentrate stress and localise strain. For big faults (San Andreas, Great Glen, Median Tectonic Line), detailed studies of the associated exposed fault rocks indicate that reactivation is linked to the development of strongly anisotropic phyllosilicate-rich fault rocks that are weak (e.g. friction coefficients as low as 0.2 or less) under a broad range of deformation conditions. In the case of pre-existing regional dyke swarms (S Atlantic, NW Scotland) - which may themselves track deep mantle fabrics at depth - multiple reactivation of dyke margins is widespread and may preclude reactivation of favourably oriented local basement fabrics. In a majority of cases, pre-existing structures in the crust are

  11. LINE-1 methylation is inherited in familial testicular cancer kindreds

    Directory of Open Access Journals (Sweden)

    Gadalla Shahinaz M

    2010-05-01

    Full Text Available Abstract Background Testicular germ cell tumors (TGCT are the most frequent cancers among young men. There is a clear familial component to TGCT etiology, but no high-penetrance susceptibility gene has been identified. Epigenetic aberrations of the genome represent an alternative mechanism for cancer susceptibility; and, studies suggest that epigenetic changes that influence cancer risk can be inherited through the germline. Global DNA hypomethylation has been associated with the risk of cancers of the bladder and head/neck. Methods We performed a pilot study of global methylation at long interspersed nuclear elements-1 (LINE-1 in peripheral blood DNA isolated from 466 family members of 101 multiple-case testicular cancer families. Results Investigating the correlation of LINE-1 methylation levels among parent-child pairs independent of affection status (n = 355 revealed a strong positive association only between mother-daughter (r = 0.48, P = r = 0.31, P = 0.02, suggesting gender-specific inheritance of methylation. Incorporating cancer status, we observed a strong correlation in LINE-1 methylation levels only among affected father-affected son pairs (r = 0.49, P = 0.03. There was a marginally significant inverse association between lower LINE-1 methylation levels and increased TGCT risk, compared with healthy male relatives (P = 0.049. Conclusions Our data suggest that heritability of LINE-1 methylation may be gender-specific. Further, the strong correlation between LINE-1 methylation levels among affected father-affected son pairs suggests that transgenerational inheritance of an epigenetic event may be associated with disease risk. Larger studies are needed to clarify these preliminary observations.

  12. Clinical neurogenetics: behavioral management of inherited neurodegenerative disease.

    Science.gov (United States)

    Wexler, Eric

    2013-11-01

    Psychiatric symptoms often manifest years before overt neurologic signs in patients with inherited neurodegenerative disease. The most frequently cited example of this phenomenon is the early onset of personality changes in "presymptomatic" Huntington patients. In some cases the changes in mood and cognition are even more debilitating than their neurologic symptoms. The goal of this article is to provide the neurologist with a concise primer that can be applied in a busy clinic or private practice. Copyright © 2013 Elsevier Inc. All rights reserved.

  13. Treatment strategies for inherited optic neuropathies: past, present and future

    OpenAIRE

    Yu-Wai-Man, P; Votruba, M; Moore, A T; Chinnery, P F

    2014-01-01

    Bilateral visual loss secondary to inherited optic neuropathies is an important cause of registrable blindness among children and young adults. The two prototypal disorders seen in clinical practice are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). About 90% of LHON cases are due to one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A, and m.14484T>C, which affect critical complex I subunits of the mitochondrial respiratory chain...

  14. Psychosocial impact of inherited and autoimmune blistering diseases

    Directory of Open Access Journals (Sweden)

    Swaranjali V. Jain, B Med Sci (Hons MD

    2018-03-01

    Full Text Available Inherited and autoimmune blistering diseases are rare, chronic, and often severe disorders that have the potential to significantly affect patients’ quality of life. The effective management of these conditions requires consideration of the physical, emotional, and social aspects of the disease. Self-esteem is integral to patients’ ability to cope with their illness, participate in treatment, and function in society. This article discusses quality-of-life studies of patients with blistering diseases with a particular focus on self-esteem issues that patients may face.

  15. The Li-Fraumeni syndrome: an inherited susceptibility to cancer.

    Science.gov (United States)

    Evans, S C; Lozano, G

    1997-09-01

    The Li-Fraumeni syndrome is a rare autosomal-dominant disease whose hallmark is a predisposition to a wide range of cancers among members of a family. Many of these families have a germline mutation within the tumor suppressor gene TP53, which encodes the p53 protein. The inheritance of a mutant TP53 allele results in a 25-fold increase in the chance of developing cancer by 50 years of age, compared with the general population. TP53 mutations are also very common in the development of somatic tumors. This article reviews the biological and biochemical role of p53 in the susceptibility to cancer in Li-Fraumeni syndrome.

  16. Odontological management of patients with inherited epidermolysis bullosa

    OpenAIRE

    Casazza, Estelle

    2016-01-01

    Inherited Epidermolysis Bullosa (I.E.B.) represent a group of very rare dermatological diseases. They are mostly characterized by the development of cutaneous and/or mucosal blistering on the patient’s body. E.B. has been divided into four main categories: E.B Simplex, Junctional E.B., Dystrophic E.B. and Kindler syndrome. Their signs and their severity are very different ; these patients’ follow up demands to develop specific procedures adapted for each one. Medical care of these patients ha...

  17. Maternal dazap2 Regulates Germ Granules by Counteracting Dynein in Zebrafish Primordial Germ Cells

    Directory of Open Access Journals (Sweden)

    Meredyth M. Forbes

    2015-07-01

    Full Text Available Primordial germ cells (PGCs are the stem cells of the germline. Generally, germline induction occurs via zygotic factors or the inheritance of maternal determinants called germ plasm (GP. GP is packaged into ribonucleoprotein complexes within oocytes and later promotes the germline fate in embryos. Once PGCs are specified by either mechanism, GP components localize to perinuclear granular-like structures. Although components of zebrafish PGC germ granules have been studied, the maternal factors regulating their assembly and contribution to germ cell development are unknown. Here, we show that the scaffold protein Dazap2 binds to Bucky ball, an essential regulator of oocyte polarity and GP assembly, and colocalizes with the GP in oocytes and in PGCs. Mutational analysis revealed a requirement for maternal Dazap2 (MDazap2 in germ-granule maintenance. Through molecular epistasis analyses, we show that MDazap2 is epistatic to Tdrd7 and maintains germ granules in the embryonic germline by counteracting Dynein activity.

  18. Genetic engineering and therapy for inherited and acquired cardiomyopathies.

    Science.gov (United States)

    Day, Sharlene; Davis, Jennifer; Westfall, Margaret; Metzger, Joseph

    2006-10-01

    The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to a reduced sensitivity of the myofilaments to calcium under acidic pH conditions. Over the last several years, the thin filament regulatory protein, troponin I, has been identified as an important mediator of this response. Mutations in troponin I and other sarcomere genes are also linked to several distinct inherited cardiomyopathic phenotypes, including hypertrophic, dilated, and restrictive cardiomyopathies. With the cardiac sarcomere emerging as a central player for such a diverse array of human heart diseases, genetic-based strategies that target the myofilament will likely have broad therapeutic potential. The development of safe vector systems for efficient gene delivery will be a critical hurdle to overcome before these types of therapies can be successfully applied. Nonetheless, studies focusing on the principles of acute genetic engineering of the sarcomere hold value as they lay the essential foundation on which to build potential gene-based therapies for heart disease.

  19. THE ELUCIDATION OF STRESS MEMORY INHERITANCE IN BRASSICA RAPA PLANTS

    Directory of Open Access Journals (Sweden)

    Andriy eBilichak

    2015-01-01

    Full Text Available Plants are able to maintain the memory of stress exposure throughout their ontogenesis and faithfully propagate it into the next generation. Recent evidence argues for the epigenetic nature of this phenomenon. Small RNAs (smRNAs are one of the vital epigenetic factors because they can both affect gene expression at the place of their generation and maintain non-cell-autonomous gene regulation. Here, we have made an attempt to decipher the contribution of smRNAs to the heat-shock-induced transgenerational inheritance in Brassica rapa plants using sequencing technology. To do this, we have generated comprehensive profiles of a transcriptome and a small RNAome (smRNAome from somatic and reproductive tissues of stressed plants and their untreated progeny. We have demonstrated that the highest tissue-specific alterations in the transcriptome and smRNAome profile are detected in tissues that were not directly exposed to stress, namely, in the endosperm and pollen. Importantly, we have revealed that the progeny of stressed plants exhibit the highest fluctuations at the smRNAome level but not at the transcriptome level. Additionally, we have uncovered the existence of heat-inducible and transgenerationally transmitted tRNA-derived small RNA fragments in plants. Finally, we suggest that miR168 and braAGO1 are involved in the stress-induced transgenerational inheritance in plants.

  20. Inheritance and heritability of resistance to citrus leprosis.

    Science.gov (United States)

    Bastianel, Marinês; de Oliveira, Antonio Carlos; Cristofani, Mariângela; Filho, Oliveiro Guerreiro; Freitas-Astúa, Juliana; Rodrigues, Vandeclei; Astúa-Monge, Gustavo; Machado, Marcos Antônio

    2006-10-01

    ABSTRACT The genetic inheritance of resistance to leprosis, the most important viral disease of citrus in Brazil, was characterized through the phenotypic assessment of 143 hybrids resulting from crosses between tangor 'Murcott' (Citrus sinensis x C. reticulata) and sweet orange 'Pêra' (C. sinensis), considered to be resistant and susceptible to the disease, respectively. All plants were grafted onto Rangpur lime (C. limonia) and inoculated with Citrus leprosis virus, cytoplasmic type through the infestation with viruliferous mites, Brevipalpus phoenicis. The experiments were arranged in a completely randomized block design with 10 replicates. Incidence and severity of the disease in leaves and stems as well as plant growth parameters (plant height and stem diameter) were recorded for 3 years after the infestation with the viruliferous mites. The average values of all variables were analyzed using principal component analysis, discriminant factorial analysis, estimation of the clonal repeatability coefficients, and frequency of the distributions of the average values for each measured variable. The principal component analysis resulted in the identification of at least two groups with resistance and susceptibility to leprosis, respectively. About 99% of all hybrids were correctly classified according to the discriminant factorial analysis. The broad-sense heritability coefficients for characteristics associated with incidence and severity of leprosis ranged from 0.88 to 0.96. The data suggest that the inheritance of resistance to leprosis may be controlled by only a few genes.

  1. Malignant skin tumours in patients with inherited ichthyosis.

    Science.gov (United States)

    Natsuga, K; Akiyama, M; Shimizu, H

    2011-08-01

    Inherited ichthyoses are rare genodermatoses caused by mutations in the genes involved in epidermal development. Although there have been case reports on patients with ichthyosis who developed skin malignancies, it is still unknown whether or not patients with ichthyosis have an increased risk of skin malignancies. Here, we review case series of skin malignancies in patients with ichthyosis and show biological findings which might lead to cancer susceptibility. A survey of the literature revealed 28 cases of inherited ichthyoses with skin malignancy, including 12 cases of keratitis-ichthyosis-deafness (KID) syndrome, seven of autosomal recessive congenital ichthyosis, three of Netherton syndrome and six of miscellaneous ichthyosis. Twenty-four of the 28 cases developed single or multiple squamous cell carcinomas (SCCs). The age at diagnosis of the first skin malignancy ranged from 15 to 54 years. As patients with these particular subtypes of ichthyosis seem to be prone to skin malignancies, including SCC, at an unusually young age, routine cancer surveillance of these patients is strongly recommended. © 2011 The Authors. BJD © 2011 British Association of Dermatologists 2011.

  2. DNA mutation motifs in the genes associated with inherited diseases.

    Directory of Open Access Journals (Sweden)

    Michal Růžička

    Full Text Available Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed coldspots. Mutation hotspots are usually derived from a mutation spectrum, which reflects particular population where an effect of a common ancestor plays a role. To detect coldspots/hotspots unaffected by population bias, we analysed the presence of germline mutations obtained from HGMD database in the 5-nucleotide segments repeatedly occurring in genes associated with common inherited disorders, in particular, the PAH, LDLR, CFTR, F8, and F9 genes. Statistically significant sequences (mutational motifs rarely associated with mutations (coldspots and frequently associated with mutations (hotspots exhibited characteristic sequence patterns, e.g. coldspots contained purine tract while hotspots showed alternating purine-pyrimidine bases, often with the presence of CpG dinucleotide. Using molecular dynamics simulations and free energy calculations, we analysed the global bending properties of two selected coldspots and two hotspots with a G/T mismatch. We observed that the coldspots were inherently more flexible than the hotspots. We assume that this property might be critical for effective mismatch repair as DNA with a mutation recognized by MutSα protein is noticeably bent.

  3. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

    Science.gov (United States)

    Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; Azbaoui, Safaa El; Agader, Aomar; Hassani, Amal; Hafidi, Naima El; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent

    2015-01-01

    Summary Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-γ immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey. PMID:25703555

  4. DNA mutation motifs in the genes associated with inherited diseases.

    Science.gov (United States)

    Růžička, Michal; Kulhánek, Petr; Radová, Lenka; Čechová, Andrea; Špačková, Naďa; Fajkusová, Lenka; Réblová, Kamila

    2017-01-01

    Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed coldspots. Mutation hotspots are usually derived from a mutation spectrum, which reflects particular population where an effect of a common ancestor plays a role. To detect coldspots/hotspots unaffected by population bias, we analysed the presence of germline mutations obtained from HGMD database in the 5-nucleotide segments repeatedly occurring in genes associated with common inherited disorders, in particular, the PAH, LDLR, CFTR, F8, and F9 genes. Statistically significant sequences (mutational motifs) rarely associated with mutations (coldspots) and frequently associated with mutations (hotspots) exhibited characteristic sequence patterns, e.g. coldspots contained purine tract while hotspots showed alternating purine-pyrimidine bases, often with the presence of CpG dinucleotide. Using molecular dynamics simulations and free energy calculations, we analysed the global bending properties of two selected coldspots and two hotspots with a G/T mismatch. We observed that the coldspots were inherently more flexible than the hotspots. We assume that this property might be critical for effective mismatch repair as DNA with a mutation recognized by MutSα protein is noticeably bent.

  5. Inheritance of culm height and grain yield in durum wheat

    International Nuclear Information System (INIS)

    Filev, K.

    1984-01-01

    Results from a study of GA sensitive and GA insensitive durum wheat mutants and cultivars in relation with their culm height and 1000 grain weight are presented. With increasing culm height, the GA response also increased. A positive correlation between plant height and GA response was found. Crosses were made between durum wheats and the F 1 and F 2 progenies were analysed. A different inheritance in F 1 and segregation in F 2 was obtained in crosses of a semi-dwarf, GA insensitive [1] line with GA sensitive (S) lines differing in height, medium (93.2cm) and tall (133.5cm). In a reciprocal cross, semi-dwarf - I with medium - S, the semi-dwarf type was dominant in F 1 , suggesting that their semi-dwarfing genes were not allelic. When the semi-dwarf - I and tall - S were crossed an intermediate inheritance in F 1 was observed. In the F 2 generation from crosses semi-dwarf - I with medium - S with semi-dwarf - I, a phenotypic dihybred segregation 9:3:3:1 was observed. In crosses semi-dwarf - I with tall - S different variation curves were obtained. Semi-dwarfs with high productivity were observed in F 2 , a fact indicating that lodging resistant lines with high yields could be selected. (author)

  6. Classification of Actions or Inheritance also for Methods

    DEFF Research Database (Denmark)

    Kristensen, Bent Bruun; Madsen, Ole Lehrmann; Møller-Pedersen, Birger

    1987-01-01

    The main thing with the sub-class mechanism as found in languages like C++, SIMULA and Smalltalk is its possibility to express specializations. A general class, covering a wide range of objects, may be specialized to cover more specific objects. This is obtained by three properties of sub-classing......: An object of a sub-class inherits the attributes of the super-class, virtual procedure/method attributes (of the super-class) may be specialized in the sub-class, and (in SIMULA only) it inherits the actions of the super-class. In the languages mentioned above, virtual procedures/methods of a super-class...... are specialized in sub-classes in a very primitive manner: they are simply re-defined and need not bear any resemblance of the virtual in the super-class. In BETA, a new object-oriented language, classes and methods are unified into one concept, and by an extension of the virtual concept, virtual procedures...

  7. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

    Science.gov (United States)

    Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; El Azbaoui, Safaa; Agader, Aomar; Hassani, Amal; El Hafidi, Naima; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent

    2015-03-01

    Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-γ immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Configuring Cloud-Service Interfaces Using Flow Inheritance

    Directory of Open Access Journals (Sweden)

    Pavel Zaichenkov

    2016-10-01

    Full Text Available Technologies for composition of loosely-coupled web services in a modular and flexible way are in high demand today. On the one hand, the services must be flexible enough to be reused in a variety of contexts. On the other hand, they must be specific enough so that their composition may be provably consistent. The existing technologies (WS-CDL, WSCI and session types require a behavioural contract associated with each service, which is impossible to derive automatically. Furthermore, neither technology supports flow inheritance: a mechanism that automatically and transparently propagates data through service pipelines. This paper presents a novel mechanism for automatic interface configuration of such services. Instead of checking consistency of the behavioural contracts, our approach focuses solely on that of data formats in the presence of subtyping, polymorphism and flow inheritance. The paper presents a toolchain that automatically derives service interfaces from the code and performs interface configuration taking non-local constraints into account. Although the configuration mechanism is global, the services are compiled separately. As a result, the mechanism does not raise source security issues despite global service availability in adaptable form.

  9. Evidence of an Inherited Predisposition for Cervical Spondylotic Myelopathy

    Science.gov (United States)

    Patel, Alpesh A.; Spiker, William Ryan; Daubs, Michael; Brodke, Darrel S.; Cannon-Albright, Lisa A.

    2011-01-01

    Study Design A retrospective population based study cross referencing a genealogic database of over 2 million Utah residents with 10 years of clinical diagnosis data from a large tertiary hospital. Objective The objective of this study is to determine the presence or absence of an inherited predisposition to the development of cervical spondylotic myelopathy (CSM). Summary of Background Data A genetic predisposition for the development of cervical spondylosis has been discussed in the literature with low quality evidence. Families with a high incidence of disease or early onset disease in monozygotic twins have both been reported. However, these suggestions of an inherited predisposition for disease have never been rigorously studied. The purpose of this study is to determine a genetic predisposition among patients diagnosed with cervical spondylotic myelopathy. Methods The Utah Population Database (UPDB) combines health and genealogic data on over 2 million Utah residents. ICD-9 codes were used to identify 486 patients in the database with a diagnosis of cervical spondylosis with myelopathy (ICD9 code 721.1). The hypothesis of excessive familial clustering was tested using the Genealogical Index of Familiality (GIF) and Relative risks (RR) in relatives were estimated by comparing rates of disease in relatives with rates estimated in the relatives of 5 matched controls for each case. This methodology has been previously reported and validated for other disease conditions but not for cervical spondylotic myelopathy. Results The GIF analysis for patients with CSM showed significant excess relatedness for disease (pspondylosis with myelopathy. Level of Evidence III PMID:21252820

  10. Epigenetic modification and inheritance in sexual reversal of fish

    Science.gov (United States)

    Shao, Changwei; Li, Qiye; Chen, Songlin; Zhang, Pei; Lian, Jinmin; Hu, Qiaomu; Sun, Bing; Jin, Lijun; Liu, Shanshan; Wang, Zongji; Zhao, Hongmei; Jin, Zonghui; Liang, Zhuo; Li, Yangzhen; Zheng, Qiumei; Zhang, Yong; Wang, Jun; Zhang, Guojie

    2014-01-01

    Environmental sex determination (ESD) occurs in divergent, phylogenetically unrelated taxa, and in some species, co-occurs with genetic sex determination (GSD) mechanisms. Although epigenetic regulation in response to environmental effects has long been proposed to be associated with ESD, a systemic analysis on epigenetic regulation of ESD is still lacking. Using half-smooth tongue sole (Cynoglossus semilaevis) as a model—a marine fish that has both ZW chromosomal GSD and temperature-dependent ESD—we investigated the role of DNA methylation in transition from GSD to ESD. Comparative analysis of the gonadal DNA methylomes of pseudomale, female, and normal male fish revealed that genes in the sex determination pathways are the major targets of substantial methylation modification during sexual reversal. Methylation modification in pseudomales is globally inherited in their ZW offspring, which can naturally develop into pseudomales without temperature incubation. Transcriptome analysis revealed that dosage compensation occurs in a restricted, methylated cytosine enriched Z chromosomal region in pseudomale testes, achieving equal expression level in normal male testes. In contrast, female-specific W chromosomal genes are suppressed in pseudomales by methylation regulation. We conclude that epigenetic regulation plays multiple crucial roles in sexual reversal of tongue sole fish. We also offer the first clues on the mechanisms behind gene dosage balancing in an organism that undergoes sexual reversal. Finally, we suggest a causal link between the bias sex chromosome assortment in the offspring of a pseudomale family and the transgenerational epigenetic inheritance of sexual reversal in tongue sole fish. PMID:24487721

  11. Genome editing: the breakthrough technology for inherited retinal disease?

    Science.gov (United States)

    Smith, Andrew J; Carter, Stephen P; Kennedy, Breandán N

    2017-10-01

    Genetic alterations resulting in a dysfunctional retinal pigment epithelium and/or degenerating photoreceptors cause impaired vision. These juxtaposed cells in the retina of the posterior eye are crucial for the visual cycle or phototransduction. Deficits in these biochemical processes perturb neural processing of images capturing the external environment. Notably, there is a distinct lack of clinically approved pharmacological, cell- or gene-based therapies for inherited retinal disease. Gene editing technologies are rapidly advancing as a realistic therapeutic option. Areas covered: Recent discovery of endonuclease-mediated gene editing technologies has culminated in a surge of investigations into their therapeutic potential. In this review, the authors discuss gene editing technologies and their applicability in treating inherited retinal diseases, the limitations of the technology and the research obstacles to overcome before editing a patient's genome becomes a viable treatment option. Expert opinion: The ability to strategically edit a patient's genome constitutes a treatment revolution. However, concerns remain over the safety and efficacy of either transplanting iPSC-derived retinal cells following ex vivo gene editing, or with direct gene editing in vivo. Ultimately, further refinements to improve efficacy and safety profiles are paramount for gene editing to emerge as a widely available treatment option.

  12. Good maternal nutrition

    DEFF Research Database (Denmark)

    Breda, Joao; Robertson, Aileen

    This publication has three parts: •a summary of the results of a systematic review of the most recent evidence on maternal nutrition, the prevention of obesity and noncommunicable diseases; •a review of existing recommendations for nutrition, physical activity and weight gain during pregnancy...... in European countries; and •lists of possible opportunities for action in European countries. The overview and exploration of the national recommendations for nutrition, physical activity and weight gain during pregnancy are based on the results of a survey in which 51 of the 53 Member States in the WHO....... These are opportunities to promote nutrition and health throughout the life-course, ensure optimal diet-related fetal development and reduce the impact of morbidity and risk factors for noncommunicable diseases by improving maternal nutrition....

  13. A maternal-offspring coadaptation theory for the evolution of genomic imprinting.

    Directory of Open Access Journals (Sweden)

    Jason B Wolf

    2006-11-01

    Full Text Available Imprinted genes are expressed either from the maternally or paternally inherited copy only, and they play a key role in regulating complex biological processes, including offspring development and mother-offspring interactions. There are several competing theories attempting to explain the evolutionary origin of this monoallelic pattern of gene expression, but a prevailing view has emerged that holds that genomic imprinting is a consequence of conflict between maternal and paternal gene copies over maternal investment. However, many imprinting patterns and the apparent overabundance of maternally expressed genes remain unexplained and may be incompatible with current theory. Here we demonstrate that sole expression of maternal gene copies is favored by natural selection because it increases the adaptive integration of offspring and maternal genomes, leading to higher offspring fitness. This novel coadaptation theory for the evolution of genomic imprinting is consistent with results of recent studies on epigenetic effects, and it provides a testable hypothesis for the origin of previously unexplained major imprinting patterns across different taxa. In conjunction with existing hypotheses, our results suggest that imprinting may have evolved due to different selective pressures at different loci.

  14. Maternal obesity and preeclampsia

    OpenAIRE

    Azar Aghamohammadi

    2011-01-01

    Background: Obesity is a modern day epidemic. The incidence appears to be rapidly increasing in bothdeveloped and developing countries and has become much more obvious in the last decade.Aim& Objective: The present research was done with the aim of studying the effects of obesity definedas a first trimester maternal body mass index >30 on the preeclampsia.Methods: This study was a descriptive-comparative study two hundred fifty singleton pregnancies ofwomen with first trimester BMI >30 who de...

  15. Inherited microbial symbionts increase herbivore abundances and alter arthropod diversity on a native grass.

    Science.gov (United States)

    Faeth, Stanley H; Shochat, Eyal

    2010-05-01

    Some microbial symbionts of plants are maternally inherited and thus functionally increase genetic and phenotypic variation within plant populations. This variation, coupled with that of the host plant and environment, may alter abundances, diversity, and trophic structure of associated plant and animal communities. Fungal endophytes in the genus Neotyphodium are vertically transmitted, asexual microbial symbionts of grasses that remain asymptomatic and rely upon their hosts for resources and transmission via seeds, often providing benefits to their hosts, including protection against herbivores. Endophyte infections may influence associated arthropod communities in agronomic grasses, but the long-term effects of endophytes and variation in host genotype and resource availability on arthropod communities in native grass populations are unknown. We conducted a long-term field experiment with four maternal genotypes of an infected (E+) native grass (Festuca arizonica) from whence the endophyte was experimentally removed (E-) and water availability was controlled, to test the effects of infection, plant genotype, and resources on abundances, biomass, diversity (richness and evenness), and trophic structure of the arthropod community. Generally, E+ grasses harbored more arthropods, including more herbivores, predators, and detritivores, suggesting that the effects of endophytes cascaded upward through trophic levels in terms of abundances, at least in early ontogeny of the host. That E+ plants harbored more herbivorous insects than E- plants suggests that infection does not increase but instead decreases resistance to herbivores, contrary to prevailing concepts of endophytes as defensive mutualists. Infection did not alter overall species richness of the arthropod community or richness of herbivores but reduced natural enemy richness, especially that of parasites, and increased richness of detritivores. Reduced richness and shifts in evenness of natural enemies on E

  16. Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.

    Science.gov (United States)

    Hook, E B

    1984-10-01

    Data are analysed on livebirths with trisomic syndromes associated with unbalanced Robertsonian translocations born from 1968 to 1981 and reported to the New York State Chromosome Registry. The maternal ages of reported cases were compared with those of the livebirths in the general population who were born in the same year. The number of translocations studied, the mean case-control differences in years in maternal age (and the standard errors of the mean) were respectively, as follows: D/21 mutants, n = 36, -0.1 (+/- 0.9); G/21 mutants, n = 46, +1.5 (+/-0.8); D/13 mutants, n = 16, +0.6 (+/-1.5); D/21 inherited, n = 12, -1.0 (+/-1.4); G/21 inherited, n = 3, -0.3 (+/-4.4); and D/13 inherited, n = 6, +2.1 (+/-2.4). There was little change in any category if the few cases diagnosed prenatally were included. Only the value for the G/21 mutants is significantly different from zero at the 0.05 level. (The results on G/21 mutants in maternal age are consistent with an earlier Japanese report of an increase of about 2 years over the control values.) The distribution of maternal ages suggests that G/21 mutants may be produced both by maternal age-independent and maternal age-dependent components. The data on D/21 mutants, however, do not indicate the negative association with maternal age reported in Japan. Differences between this study and the Japanese study in analyses of controls may explain this slight variation. But in any event both studies reveal no evidence for an increase in maternal age for unbalanced D/21 mutant or D/21 inherited translocations associated with Down syndrome. This is evidence against the hypothesis that relaxed selection during gestation, after recognition of pregnancy, accounts for the maternal age effects of 47, +21. In comparison with the results on Robertsonian translocations, the case-control differences in maternal age in years (and the standard errors of the mean) for 47, +21 for 2148 livebirths was +4.6 (+/-0.2), and for 2354 cases

  17. Multiple malformations and maternal smoking.

    Science.gov (United States)

    Källén, K

    2000-07-01

    The Swedish health registries were used to investigate a possible effect of maternal smoking on the incidence of multiple malformations. Among 1413811 infants born in 1983-96 and with known smoking exposure in early pregnancy, 26619 with isolated malformations and 1409 with two or more malformations were selected. After controlling for year of birth, maternal age, parity and educational level, a statistically significant association between maternal smoking and multiple malformations was found (OR 1.15; 95% CI 1.02, 1.29). Among isolated malformations, the estimated OR for maternal smoking was close to unity (OR 1.02; 95% CI 0.99, 1.05), but a strong heterogeneity of the magnitude of the association between maternal smoking and the different malformations was found. Among multimalformed, no such heterogeneity was indicated. The ORs for maternal smoking were calculated for all possible pairwise combinations of 44 selected malformations, but no association between maternal smoking and any specific combination could be detected. The ORs for maternal smoking among probable cases of VATER, CHARGE or OEIS non-random associations, respectively, were estimated, but no association was indicated between maternal smoking and any of the malformation complexes. The results of the present study indicate that maternal smoking is associated with a non-specific increased risk of multiple malformations, but further research is needed before such an inference can be made.

  18. AN AUDIT OF MATERNAL DEATHS

    Directory of Open Access Journals (Sweden)

    Basavana Gowda

    2015-03-01

    Full Text Available OBJECTIVES: A study of maternal death conducted to evaluate various factors responsible for maternal deaths. To identify complications in pregnancy, a childbirth which result in maternal death, and to identify opportunities for preventive intervention and understand the events leading to death; so that improving maternal health and reducing maternal mortality rate significantly. To analyze the causes and epidemiological amounts maternal mortality e.g. age parity, socioeconomic status and literacy. In order to reduce maternal mortality and to implement safe motherhood program and complications of pregnancy and to find out safe motherhood program. METHODS: The data collected was a retrograde by a proforma containing particulars of the diseased, detailed history and relatives were interviewed for additional information. The data collected was analysed. RESULTS: Maternal mortality rate in our own institution is 200/ 100,000 live births. Among 30 maternal deaths, 56% deaths (17 were among low socio - economic status, groups 60% deaths among unbooked 53.5% deaths more along illiterates evidenced by direct and indirect deaths about 25% of deaths were preventable. CONCLUSION: Maternal death is a great tragedy in the family life. It is crusade to know not just the medical cause of the death but the circumstances what makes these continued tragic death even more unacceptable is that deaths are largely preventable

  19. Dead mothers and injured wives: the social context of maternal morbidity and mortality among the Hausa of northern Nigeria.

    Science.gov (United States)

    Wall, L L

    1998-12-01

    Northern Nigeria has a maternal mortality ratio greater than 1,000 maternal deaths per 100,000 live births. Serious maternal morbidity (for example, vesico-vaginal fistula) is also common. Among the most important factors contributing to this tragic situation are: an Islamic culture that undervalues women; a perceived social need for women's reproductive capacities to be under strict male control; the practice of purdah (wife seclusion), which restricts women's access to medical care; almost universal female illiteracy; marriage at an early age and pregnancy often occurring before maternal pelvic growth is complete; a high rate of obstructed labor; directly harmful traditional medical beliefs and practices; inadequate facilities to deal with obstetric emergencies; a deteriorating economy; and a political culture marked by rampant corruption and inefficiency. The convergence of all of these factors has resulted in one of the worst records of female reproductive health existing anywhere in the world.

  20. Inheritance of carbon isotope discrimination and water-use efficiency in cowpea

    International Nuclear Information System (INIS)

    Ismail, A.M.; Hall, A.E.

    1993-01-01

    Theory has been developed predicting an association between water-use efficiency (WUE = total biomass/transpiration) and leaf discrimination against 13C carbon isotope discrimination which could be used to indirectly select for WUE in C3 plants. Previous studies indicated variation in WUE and carbon isotope discrimination among genotypes of cowpea [Vigna unguiculata (L.) Walp.] and due to drought. Moreover, a highly significant negative correlation between WUE and carbon isotope discrimination was observed for both genotypic and drought effects, as expected based on theory. Present studies were conducted to investigate whether the inheritance of WUE and carbon isotope discrimination is nuclear or maternal, and whether any dominance is present. Contrasting cowpea accessions and hybrids were grown over 2 yr in two outdoor pot experiments, subjected to wet or dry treatments, and under full irrigation in natural soil conditions in 1 yr. Highly significant differences in WUE were observed among cowpea parents and hybrids, and due to drought, which were strongly and negatively correlated with carbon isotope discrimination as expected based on theory. Data from reciprocal crosses indicated that both WUE and carbon isotope discrimination are controlled by nuclear genes. High WUE and low carbon isotope discrimination exhibited partial dominance under pot conditions. In contrast, high carbon isotope discrimination was partially dominant for plants grown under natural soil conditions but in a similar aerial environment as in the pot studies. We speculate that differences in rooting conditions were responsible for the differences in extent of dominance for carbon isotope discrimination of plants growing under pot conditions compared with natural soil conditions in a similar field aerial environment

  1. Endangering of Businesses by the German Inheritance Tax? – An Empirical Analysis

    Directory of Open Access Journals (Sweden)

    Henriette Houben

    2011-04-01

    Full Text Available This contribution addresses the substantial tax privilege for businesses introduced by the German Inheritance Tax Act 2009. Advocates of the vast or even entire tax exemption for businesses stress the potential damage of the inheritance tax on businesses, as those often lack liquidity to meet tax liability. This submission tackles this issue empirically based on data of the German Inheritance Tax Statistics and the SOEP. The results indicate that former German inheritance tax law has not endangered transferred businesses. Hence, there is no need for the tremendous tax privilege for businesses in current German inheritance tax law. An alternative flat inheritance tax without tax privileges, which meets revenue neutrality per tax class according to current tax law, provokes in some cases relative high tax loads which might trouble businesses.

  2. The Legal Position and Factual Situation of Women Participation to Inheritance in Kosovo

    Directory of Open Access Journals (Sweden)

    LL.M. Egzonis Hajdari

    2014-06-01

    Full Text Available The right to inheritance represents one of the basic human rights. As such this right is regulated by the law. The Law on Inheritance in Kosovo regulates substantially, all the issues related to inheritance. In this context, this Law contains numerous rules that proclaim full equality of women with men to inheritance. Regardless of equality proclaimed by law practical reality of life indicates a different situation. This reality proves that women participation to inheritance nevertheless is very small. The reasons for this situation are numerous and diverse, but mostly they have to deal with the still existence in people's conscience of many customary rules, which constantly treated women as a subject of second hand. In this article a modest attempt is made to reflect besides legal aspect also the practical situation indicating the degree of women participation to inheritance in Kosovo, in all grades that she may appear as heir.

  3. Effectiveness of strict vs. multiple use protected areas in reducing tropical forest fires: a global analysis using matching methods.

    Directory of Open Access Journals (Sweden)

    Andrew Nelson

    Full Text Available Protected areas (PAs cover a quarter of the tropical forest estate. Yet there is debate over the effectiveness of PAs in reducing deforestation, especially when local people have rights to use the forest. A key analytic problem is the likely placement of PAs on marginal lands with low pressure for deforestation, biasing comparisons between protected and unprotected areas. Using matching techniques to control for this bias, this paper analyzes the global tropical forest biome using forest fires as a high resolution proxy for deforestation; disaggregates impacts by remoteness, a proxy for deforestation pressure; and compares strictly protected vs. multiple use PAs vs indigenous areas. Fire activity was overlaid on a 1 km map of tropical forest extent in 2000; land use change was inferred for any point experiencing one or more fires. Sampled points in pre-2000 PAs were matched with randomly selected never-protected points in the same country. Matching criteria included distance to road network, distance to major cities, elevation and slope, and rainfall. In Latin America and Asia, strict PAs substantially reduced fire incidence, but multi-use PAs were even more effective. In Latin America, where there is data on indigenous areas, these areas reduce forest fire incidence by 16 percentage points, over two and a half times as much as naïve (unmatched comparison with unprotected areas would suggest. In Africa, more recently established strict PAs appear to be effective, but multi-use tropical forest protected areas yield few sample points, and their impacts are not robustly estimated. These results suggest that forest protection can contribute both to biodiversity conservation and CO2 mitigation goals, with particular relevance to the REDD agenda. Encouragingly, indigenous areas and multi-use protected areas can help to accomplish these goals, suggesting some compatibility between global environmental goals and support for local livelihoods.

  4. Hydroxycinnamic acids used as external acceptors of electrons: an energetic advantage for strictly heterofermentative lactic acid bacteria.

    Science.gov (United States)

    Filannino, Pasquale; Gobbetti, Marco; De Angelis, Maria; Di Cagno, Raffaella

    2014-12-01

    The metabolism of hydroxycinnamic acids by strictly heterofermentative lactic acid bacteria (19 strains) was investigated as a potential alternative energy route. Lactobacillus curvatus PE5 was the most tolerant to hydroxycinnamic acids, followed by strains of Weissella spp., Lactobacillus brevis, Lactobacillus fermentum, and Leuconostoc mesenteroides, for which the MIC values were the same. The highest sensitivity was found for Lactobacillus rossiae strains. During growth in MRS broth, lactic acid bacteria reduced caffeic, p-coumaric, and ferulic acids into dihydrocaffeic, phloretic, and dihydroferulic acids, respectively, or decarboxylated hydroxycinnamic acids into the corresponding vinyl derivatives and then reduced the latter compounds to ethyl compounds. Reductase activities mainly emerged, and the activities of selected strains were further investigated in chemically defined basal medium (CDM) under anaerobic conditions. The end products of carbon metabolism were quantified, as were the levels of intracellular ATP and the NAD(+)/NADH ratio. Electron and carbon balances and theoretical ATP/glucose yields were also estimated. When CDM was supplemented with hydroxycinnamic acids, the synthesis of ethanol decreased and the concentration of acetic acid increased. The levels of these metabolites reflected on the alcohol dehydrogenase and acetate kinase activities. Overall, some biochemical traits distinguished the common metabolism of strictly heterofermentative strains: main reductase activity toward hydroxycinnamic acids, a shift from alcohol dehydrogenase to acetate kinase activities, an increase in the NAD(+)/NADH ratio, and the accumulation of supplementary intracellular ATP. Taken together, the above-described metabolic responses suggest that strictly heterofermentative lactic acid bacteria mainly use hydroxycinnamic acids as external acceptors of electrons. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

  5. Inheritance of quantitative traits in opium poppy (Papaver somniferum L.

    Directory of Open Access Journals (Sweden)

    Yadav H.K.

    2011-01-01

    Full Text Available Generation mean analysis was carried out using five parameter model on five cross combinations with five generations i.e. parents, F1s, F2s, and F3s randomly selected from partial diallel breeding experiment. The aim of study was to investigate the mode of gene actions involved in the inheritance of quantitative traits viz. days to 50% flowering, plant height, leaves/plant, capsules/plant, capsule size, capsule weight/plant, seed yield/plant and opium yield/plant. C and D scaling test showed the presence of non allelic interaction in the inheritance for all the traits except for plant height, seed yield/plant (ND1001xIS13 and capsule size (NBR5xND1002 which showed non interacting mode of inheritance. In general, the interaction effect together i.e. additive x additive [i] and dominance x dominance [l] found in higher magnitude than the combined main effects of additive [d] and dominance [h] effects for all the traits in all the five crosses. Dominance effect [h] was found pronounced for most of the traits except days to 50% flowering where additive effect [d] was found prevalent. Among the interaction effects dominance x dominance [l] was predominant over additive x additive [i] for all traits in all the five crosses except capsules/plant and capsule size in cross ND1001xNBRI11 and leaves/plant and opium yield/plant in cross NBRI5xND1002. As per sign of dominance (h and dominance x dominance (l duplicate epistasis were noticed for all the traits except plant height and leaves/plant in cross ND1001xUO1285. Potence ratio indicated presence of over dominance for almost all the traits. Substantial amount of realized heterosis, residual heterosis in F2 and F3 progenies and high heritability with moderate to high genetic advance in F2 progeny and significant correlation among important traits in desirable direction were observed. A breeding strategy of diallel selective mating or biparental mating in early segregating generation followed by recurrent

  6. Inherited metabolic liver diseases in infants and children: an overview

    Directory of Open Access Journals (Sweden)

    Ivo Barić

    2013-10-01

    Full Text Available Inborn errors of metabolism, which affect the liver are a large, continuously increasing group of diseases. Their clinical onset can occur at any age, from intrauterine period presenting as liver failure already at birth to late adulthood. Inherited metabolic disorders must be considered in differential diagnosis of every unexplained liver disease. Specific diagnostic work-up for either their confirmation or exclusion should start immediately since any postponing can result in delayed diagnosis and death or irreversible disability. This can be particularly painful while many inherited metabolic liver diseases are relatively easily treatable if diagnosed on time, for instance galactosemia or hereditary fructose intolerance by simple dietary means. Any unexplained liver disease, even one looking initially benign, should be considered as a potential liver failure and therefore should deserve proper attention. Diagnosis in neonates is additionally complicated because of the factors which can mask liver disease, such as physiological neonatal jaundice, normally relatively enlarged liver and increased transaminases at that age. In everyday practice, in order to reveal the etiology, it is useful to classify and distinguish some clinical patterns which, together with a few routine, widely available laboratory tests (aminotransferases, prothrombine time, albumin, gammaGT, total and conjugated bilirubin, ammonia, alkaline phosphatase and glucose make the search for the cause much easier. These patterns are isolated hyperbilirubinemia, syndrome of cholestasis in early infancy, hepatocellular jaundice, Reye syndrome, portal cirrhosis and isolated hepatomegaly. Despite the fact that some diseases can present with more than one pattern (for instance, alpha-1-antitrypsin deficiency as infantile cholestasis, but also as hepatocellular jaundice, and that in some disesases one pattern can evolve into another (for instance, Wilson disease from hepatocellular

  7. Fermentative Degradation of Polyethylene Glycol by a Strictly Anaerobic, Gram-Negative, Nonsporeforming Bacterium, Pelobacter venetianus sp. nov

    OpenAIRE

    1983-01-01

    The synthetic polyether polyethylene glycol (PEG) with a molecular weight of 20,000 was anaerobically degraded in enrichment cultures inoculated with mud of limnic and marine origins. Three strains (Gra PEG 1, Gra PEG 2, and Ko PEG 2) of rod-shaped, gram-negative, nonsporeforming, strictly anaerobic bacteria were isolated in mineral medium with PEG as the sole source of carbon and energy. All strains degraded dimers, oligomers, and polymers of PEG up to a molecular weight of 20,000 completely...

  8. An Iterative Algorithm Combining Viscosity Method with Parallel Method for a Generalized Equilibrium Problem and Strict Pseudocontractions

    Directory of Open Access Journals (Sweden)

    2009-03-01

    Full Text Available We introduce a new approximation scheme combining the viscosity method with parallel method for finding a common element of the set of solutions of a generalized equilibrium problem and the set of fixed points of a family of finitely strict pseudocontractions. We obtain a strong convergence theorem for the sequences generated by these processes in Hilbert spaces. Based on this result, we also get some new and interesting results. The results in this paper extend and improve some well-known results in the literature.

  9. Sterility inheritance in the irradiated European Corn Borer

    International Nuclear Information System (INIS)

    Rosca, I.; Barbulescu, Al.

    1990-01-01

    The inherited sterility in F 1 and F 2 of the European Corn Borer (Ostrinia nubilalis Hb.) irradiated with sub-sterilizing doses of 10 and 15 Krad has been studied at Research Institute for Cereals and Industrial Crops, Fundulea, Romania. Irradiations were done with a 60 Co source delivering 1,805 roentgen/h/m in containers of 23 mm diameter and 125 mm height, placed apart from the 60 Co source. Following irradiation of male parent generation, no significant differences were recorded in F 1 and F 2 referring to the number of deposited egg-batches and adult longevity. Nevertheless, there was a significant decrease of the percentage of viable eggs and an increase of the number of sterile couples. (author)

  10. Coupling organelle inheritance with mitosis to balance growth and differentiation.

    Science.gov (United States)

    Asare, Amma; Levorse, John; Fuchs, Elaine

    2017-02-03

    Balancing growth and differentiation is essential to tissue morphogenesis and homeostasis. How imbalances arise in disease states is poorly understood. To address this issue, we identified transcripts differentially expressed in mouse basal epidermal progenitors versus their differentiating progeny and those altered in cancers. We used an in vivo RNA interference screen to unveil candidates that altered the equilibrium between the basal proliferative layer and suprabasal differentiating layers forming the skin barrier. We found that epidermal progenitors deficient in the peroxisome-associated protein Pex11b failed to segregate peroxisomes properly and entered a mitotic delay that perturbed polarized divisions and skewed daughter fates. Together, our findings unveil a role for organelle inheritance in mitosis, spindle alignment, and the choice of daughter progenitors to differentiate or remain stem-like. Copyright © 2017, American Association for the Advancement of Science.

  11. Non-genomic transgenerational inheritance of disease risk.

    Science.gov (United States)

    Gluckman, Peter D; Hanson, Mark A; Beedle, Alan S

    2007-02-01

    That there is a heritable or familial component of susceptibility to chronic non-communicable diseases such as type 2 diabetes, obesity and cardiovascular disease is well established, but there is increasing evidence that some elements of such heritability are transmitted non-genomically and that the processes whereby environmental influences act during early development to shape disease risk in later life can have effects beyond a single generation. Such heritability may operate through epigenetic mechanisms involving regulation of either imprinted or non-imprinted genes but also through broader mechanisms related to parental physiology or behaviour. We review evidence and potential mechanisms for non-genomic transgenerational inheritance of 'lifestyle' disease and propose that the 'developmental origins of disease' phenomenon is a maladaptive consequence of an ancestral mechanism of developmental plasticity that may have had adaptive value in the evolution of generalist species such as Homo sapiens. Copyright 2007 Wiley Periodicals, Inc.

  12. On symmetry inheritance of nonminimally coupled scalar fields

    Science.gov (United States)

    Barjašić, Irena; Smolić, Ivica

    2018-04-01

    We present the first symmetry inheritance analysis of fields non-minimally coupled to gravity. In this work we are focused on the real scalar field ϕ with nonminimal coupling of the form ξφ2 R . Possible cases of symmetry noninheriting fields are constrained by the properties of the Ricci tensor and the scalar potential. Examples of such spacetimes can be found among those which are ‘dressed’ with the stealth scalar field, a nontrivial scalar field configuration with the vanishing energy–momentum tensor. We classify the scalar field potentials which allow symmetry noninheriting stealth field configurations on top of the exact solutions of the Einstein’s gravitational field equation with the cosmological constant.

  13. Inheritance of polycystic kidney disease in Persian cats.

    Science.gov (United States)

    Biller, D S; DiBartola, S P; Eaton, K A; Pflueger, S; Wellman, M L; Radin, M J

    1996-01-01

    Polycystic kidney disease in Persian cats culminates in chronic renal failure after a variable clinical course. An affected 6-year-old Persian cat was used to establish a colony of cats with polycystic kidney disease. In affected cats, cysts could be detected by ultrasonography as early as 7 weeks of age. Absence of cysts on ultrasound examination at 6 months of age was correlated with absence of polycystic kidney disease at necropsy. Both males and females were affected and, of progeny from affected x unaffected crosses, 42% were affected and 58% were unaffected. In affected x affected crosses, 73% of progeny were affected and 27% were unaffected. These results are compatible with autosomal dominant inheritance of this trait. Polycystic kidney disease in Persian cats resembles autosomal dominant polycystic kidney disease (ADPKD) in human beings, and represents a valuable animal model of the human disease.

  14. Relevance of the Human Genome Project to inherited metabolic disease.

    Science.gov (United States)

    Burn, J

    1994-01-01

    The Human Genome Project is an international effort to identify the complete structure of the human genome. HUGO, the Human Genome Organization, facilitates international cooperation and exchange of information while the Genome Data Base will act as the on-line information retrieval and storage system for the huge amount of information being accumulated. The clinical register MIM (Mendelian Inheritance in Man) established by Victor McKusick is now an on-line resource that will allow biochemists working with inborn errors of metabolism to access the rapidly expanding body of knowledge. Biochemical and molecular genetics are complementary and should draw together to find solutions to the academic and clinical problems posed by inborn errors of metabolism.

  15. PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

    Directory of Open Access Journals (Sweden)

    A. Nickavar

    2006-09-01

    Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

  16. This common inheritance: 1995 annual report. Minutes of evidence

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1995-05-17

    The document records questions relating to progress on environmental issues and actions in the White Paper entitled `Our Common Inheritance` (published in 1990) and also serves as an update to the UK`s sustainable development strategy. Questions were answered by Rt. Hon. John Gummer, Secretary of State for the Environment, Mr Richard Duding, Director of Pollution Control and Wastes, and Mrs Kay Hunt, Sustainable Development and General Environmental Policy Coordination. Topics covered included: the proposed landfill levy and water pollution charging; water metering; abatement of carbon dioxide emissions after the year 2000; tax on fuel; promotion of combined heat and power; road transport policy; meetings of the `interdepartmental green Ministers`; meeting commitments under the Convention of Biological Diversity; mine water pollution; and the `Going for Green` campaign.

  17. Transgenerational epigenetic inheritance: adaptation through the germline epigenome?

    Science.gov (United States)

    Prokopuk, Lexie; Western, Patrick S; Stringer, Jessica M

    2015-08-01

    Epigenetic modifications direct the way DNA is packaged into the nucleus, making genes more or less accessible to transcriptional machinery and influencing genomic stability. Environmental factors have the potential to alter the epigenome, allowing genes that are silenced to be activated and vice versa. This ultimately influences disease susceptibility and health in an individual. Furthermore, altered chromatin states can be transmitted to subsequent generations, thus epigenetic modifications may provide evolutionary mechanisms that impact on adaptation to changed environments. However, the mechanisms involved in establishing and maintaining these epigenetic modifications during development remain unclear. This review discusses current evidence for transgenerational epigenetic inheritance, confounding issues associated with its study, and the biological relevance of altered epigenetic states for subsequent generations.

  18. Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.

    Science.gov (United States)

    Priori, Silvia G; Chen, S R Wayne

    2011-04-01

    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is characterized by life-threatening arrhythmias elicited by stress and emotion. In 2001, the ryanodine receptor was identified as the gene that is linked to CPVT; shortly thereafter, cardiac calsequestrin was implicated in the recessive form of the same disease. It became clear that abnormalities in intracellular Ca(2+) regulation could profoundly disrupt the electrophysiological properties of the heart. In this article, we discuss the molecular basis of the disease and the pathophysiological mechanisms that are impacting clinical diagnosis and management of affected individuals. As of today, the interaction between basic scientists and clinicians to understand CPVT and identify new therapeutic strategies is one of the most compelling examples of the importance of translational research in cardiology.

  19. Polarised asymmetric inheritance of accumulated protein damage in higher eukaryotes.

    Directory of Open Access Journals (Sweden)

    María A Rujano

    2006-12-01

    Full Text Available Disease-associated misfolded proteins or proteins damaged due to cellular stress are generally disposed via the cellular protein quality-control system. However, under saturating conditions, misfolded proteins will aggregate. In higher eukaryotes, these aggregates can be transported to accumulate in aggresomes at the microtubule organizing center. The fate of cells that contain aggresomes is currently unknown. Here we report that cells that have formed aggresomes can undergo normal mitosis. As a result, the aggregated proteins are asymmetrically distributed to one of the daughter cells, leaving the other daughter free of accumulated protein damage. Using both epithelial crypts of the small intestine of patients with a protein folding disease and Drosophila melanogaster neural precursor cells as models, we found that the inheritance of protein aggregates during mitosis occurs with a fixed polarity indicative of a mechanism to preserve the long-lived progeny.

  20. Endosymbiotic gene transfer from prokaryotic pangenomes: Inherited chimerism in eukaryotes.

    Science.gov (United States)

    Ku, Chuan; Nelson-Sathi, Shijulal; Roettger, Mayo; Garg, Sriram; Hazkani-Covo, Einat; Martin, William F

    2015-08-18

    Endosymbiotic theory in eukaryotic-cell evolution rests upon a foundation of three cornerstone partners--the plastid (a cyanobacterium), the mitochondrion (a proteobacterium), and its host (an archaeon)--and carries a corollary that, over time, the majority of genes once present in the organelle genomes were relinquished to the chromosomes of the host (endosymbiotic gene transfer). However, notwithstanding eukaryote-specific gene inventions, single-gene phylogenies have never traced eukaryotic genes to three single prokaryotic sources, an issue that hinges crucially upon factors influencing phylogenetic inference. In the age of genomes, single-gene trees, once used to test the predictions of endosymbiotic theory, now spawn new theories that stand to eventually replace endosymbiotic theory with descriptive, gene tree-based variants featuring supernumerary symbionts: prokaryotic partners distinct from the cornerstone trio and whose existence is inferred solely from single-gene trees. We reason that the endosymbiotic ancestors of mitochondria and chloroplasts brought into the eukaryotic--and plant and algal--lineage a genome-sized sample of genes from the proteobacterial and cyanobacterial pangenomes of their respective day and that, even if molecular phylogeny were artifact-free, sampling prokaryotic pangenomes through endosymbiotic gene transfer would lead to inherited chimerism. Recombination in prokaryotes (transduction, conjugation, transformation) differs from recombination in eukaryotes (sex). Prokaryotic recombination leads to pangenomes, and eukaryotic recombination leads to vertical inheritance. Viewed from the perspective of endosymbiotic theory, the critical transition at the eukaryote origin that allowed escape from Muller's ratchet--the origin of eukaryotic recombination, or sex--might have required surprisingly little evolutionary innovation.

  1. Communication of genetic information to families with inherited rhythm disorders.

    Science.gov (United States)

    Burns, Charlotte; James, Cynthia; Ingles, Jodie

    2017-11-23

    Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support. Copyright © 2017 Heart Rhythm Society. All rights reserved.

  2. Choroidal thickness profile in inherited retinal diseases in Indian subjects

    Directory of Open Access Journals (Sweden)

    Jay Chhablani

    2015-01-01

    Full Text Available Purpose: To evaluate changes in choroidal thickness (CT in inherited retinal diseases and its relationship with age, spherical equivalent, visual acuity, and macular thickness. Methods: Retrospective analysis of 51 eyes with features of retinal dystrophy of 26 subjects, who underwent enhanced depth imaging using spectral domain (SD optical coherence tomography (OCT, were included. The CT measurements were made at the fovea and at 5 points with an interval of 500 microns in both directions, nasal and temporal from the fovea and were compared with age-matched healthy subjects. Step-wise regression was used to find the relationship between age, spherical equivalent, best-corrected visual acuity (BCVA, central macular thickness (CMT, and subfoveal CT. Results: Disease distribution was as follows: Stargardt′s disease 18 eyes (9 subjects; Best disease 5 eyes (3 subjects; cone-rod dystrophy 26 eyes (13 subjects; and Bietti′s crystalline dystrophy 2 eyes (1 subject. Mean subfoveal CT was 266.33 ± 76 microns. On regression analysis, no significant correlation was found between subfoveal CT and any other variable such as age (P = 0.9, gender (P = 0.5, CMT (P = 0.1, spherical equivalent (P = 0.3 and BCVA (P = 0.6. While comparing with age-matched healthy subjects, no significant statistical difference was noted (P < 0.05 among all age groups. Conclusion: Our study reports quantitative changes in CT in various common inherited retinal diseases seen in Indian populations. To validate changes in choroid, a longitudinal study with larger sample size is warranted.

  3. Maternal cardiac metabolism in pregnancy

    Science.gov (United States)

    Liu, Laura X.; Arany, Zolt

    2014-01-01

    Pregnancy causes dramatic physiological changes in the expectant mother. The placenta, mostly foetal in origin, invades maternal uterine tissue early in pregnancy and unleashes a barrage of hormones and other factors. This foetal ‘invasion’ profoundly reprogrammes maternal physiology, affecting nearly every organ, including the heart and its metabolism. We briefly review here maternal systemic metabolic changes during pregnancy and cardiac metabolism in general. We then discuss changes in cardiac haemodynamic during pregnancy and review what is known about maternal cardiac metabolism during pregnancy. Lastly, we discuss cardiac diseases during pregnancy, including peripartum cardiomyopathy, and the potential contribution of aberrant cardiac metabolism to disease aetiology. PMID:24448314

  4. Classification differences and maternal mortality

    DEFF Research Database (Denmark)

    Salanave, B; Bouvier-Colle, M H; Varnoux, N

    1999-01-01

    of experts into obstetric or non-obstetric causes. An ICD-9 code (International Classification of Diseases) was attributed to each case. These were compared to the codes given in each country. Correction indices were calculated, giving new estimates of maternal mortality rates. SUBJECTS: There were....... This change was substantial in three countries (P mortality rate for participating countries was 7.7 per...... and consequently affect maternal mortality rates. Differences in classification of death must be taken into account when comparing maternal mortality rates, as well as differences in obstetric care, underreporting of maternal deaths and other factors such as the age distribution of mothers....

  5. Molecular phylogenetics of the bat genus Scotophilus (Chiroptera: Vespertilionidae): Perspectives from paternally and maternally iInherited genomes

    Science.gov (United States)

    Robert G. Trujillo; John C. Patton; Duane A. Schlitter; John W. Bickham

    2009-01-01

    The genus Scotophilusis composed of 15 recognized species with 7 species distributed throughout sub-Saharan Africa, 4 distributed across southern and southeastern Asia, 3 endemic to Madagascar, and 1 endemic to Reunion Island. Scotophilusis plagued with problems in species definition, and systematic relationships among members of...

  6. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    Science.gov (United States)

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  7. Adaptive terminal sliding mode control for hypersonic flight vehicles with strictly lower convex function based nonlinear disturbance observer.

    Science.gov (United States)

    Wu, Yun-Jie; Zuo, Jing-Xing; Sun, Liang-Hua

    2017-11-01

    In this paper, the altitude and velocity tracking control of a generic hypersonic flight vehicle (HFV) is considered. A novel adaptive terminal sliding mode controller (ATSMC) with strictly lower convex function based nonlinear disturbance observer (SDOB) is proposed for the longitudinal dynamics of HFV in presence of both parametric uncertainties and external disturbances. First, for the sake of enhancing the anti-interference capability, SDOB is presented to estimate and compensate the equivalent disturbances by introducing a strictly lower convex function. Next, the SDOB based ATSMC (SDOB-ATSMC) is proposed to guarantee the system outputs track the reference trajectory. Then, stability of the proposed control scheme is analyzed by the Lyapunov function method. Compared with other HFV control approaches, key novelties of SDOB-ATSMC are that a novel SDOB is proposed and drawn into the (virtual) control laws to compensate the disturbances and that several adaptive laws are used to deal with the differential explosion problem. Finally, it is illustrated by the simulation results that the new method exhibits an excellent robustness and a better disturbance rejection performance than the convention approach. Copyright © 2017 ISA. Published by Elsevier Ltd. All rights reserved.

  8. Strictly monolayer large continuous MoS{sub 2} films on diverse substrates and their luminescence properties

    Energy Technology Data Exchange (ETDEWEB)

    Mohapatra, P. K.; Deb, S.; Singh, B. P.; Vasa, P.; Dhar, S., E-mail: dhar@phy.iitb.ac.in [Department of Physics, Indian Institute of Technology Bombay, Mumbai 400076 (India)

    2016-01-25

    Despite a tremendous interest on molybdenum disulfide as a thinnest direct band gap semiconductor, single step synthesis of a large area purely monolayer MoS{sub 2} film has not yet been reported. Here, we report a CVD route to synthesize a continuous film of strictly monolayer MoS{sub 2} covering an area as large as a few cm{sup 2} on a variety of different substrates without using any seeding material or any elaborate pretreatment of the substrate. This is achieved by allowing the growth to take place in the naturally formed gap between a piece of SiO{sub 2} coated Si wafer and the substrate, when the latter is placed on top of the former inside a CVD reactor. We propose a qualitative model to explain why the MoS{sub 2} films are always strictly monolayer in this method. The photoluminescence study of these monolayers shows the characteristic excitonic and trionic features associated with monolayer MoS{sub 2}. In addition, a broad defect related luminescence band appears at ∼1.7 eV. As temperature decreases, the intensity of this broad feature increases, while the band edge luminescence reduces.

  9. Event-Sampled Direct Adaptive NN Output- and State-Feedback Control of Uncertain Strict-Feedback System.

    Science.gov (United States)

    Szanto, Nathan; Narayanan, Vignesh; Jagannathan, Sarangapani

    2017-04-12

    In this paper, a novel event-triggered implementation of a tracking controller for an uncertain strict-feedback system is presented. Neural networks (NNs) are utilized in the backstepping approach to design a control input by approximating unknown dynamics of the strict-feedback nonlinear system with event-sampled inputs. The system state vector is assumed to be unknown and an NN observer is used to estimate the state vector. By using the estimated state vector and backstepping design approach, an event-sampled controller is introduced. As part of the controller design, first, input-to-state-like stability for a continuously sampled controller that has been injected with bounded measurement errors is demonstrated, and subsequently, an event-execution control law is derived, such that the measurement errors are guaranteed to remain bounded. Lyapunov theory is used to demonstrate that the tracking errors, the observer estimation errors, and the NN weight estimation errors for each NN are locally uniformly ultimately bounded in the presence bounded disturbances, NN reconstruction errors, as well as errors introduced by event sampling. Simulation results are provided to illustrate the effectiveness of the proposed controllers.

  10. An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.

    Directory of Open Access Journals (Sweden)

    Mei-Yi Wu

    Full Text Available Genomic imprinting is a phenomenon that some genes are expressed differentially according to the parent of origin. Prader-Willi syndrome (PWS and Angelman syndrome (AS are neurobehavioral disorders caused by deficiency of imprinted gene expression from paternal and maternal chromosome 15q11-q13, respectively. Imprinted genes at the PWS/AS domain are regulated through a bipartite imprinting center, the PWS-IC and AS-IC. The PWS-IC activates paternal-specific gene expression and is responsible for the paternal imprint, whereas the AS-IC functions in the maternal imprint by allele-specific repression of the PWS-IC to prevent the paternal imprinting program. Although mouse chromosome 7C has a conserved PWS/AS imprinted domain, the mouse equivalent of the human AS-IC element has not yet been identified. Here, we suggest another dimension that the PWS-IC also functions in maternal imprinting by negatively regulating the paternally expressed imprinted genes in mice, in contrast to its known function as a positive regulator for paternal-specific gene expression. Using a mouse model carrying a 4.8-kb deletion at the PWS-IC, we demonstrated that maternal transmission of the PWS-IC deletion resulted in a maternal imprinting defect with activation of the paternally expressed imprinted genes and decreased expression of the maternally expressed imprinted gene on the maternal chromosome, accompanied by alteration of the maternal epigenotype toward a paternal state spread over the PWS/AS domain. The functional significance of this acquired paternal pattern of gene expression was demonstrated by the ability to complement PWS phenotypes by maternal inheritance of the PWS-IC deletion, which is in stark contrast to paternal inheritance of the PWS-IC deletion that resulted in the PWS phenotypes. Importantly, low levels of expression of the paternally expressed imprinted genes are sufficient to rescue postnatal lethality and growth retardation in two PWS mouse models

  11. Embryo-maternal communication

    DEFF Research Database (Denmark)

    Østrup, Esben; Hyttel, Poul; Østrup, Olga

    2011-01-01

    Communication during early pregnancy is essential for successful reproduction. In this review we address the beginning of the communication between mother and developing embryo; including morphological and transcriptional changes in the endometrium as well as epigenetic regulation mechanisms dire...... directing the placentation. An increasing knowledge of the embryo-maternal communication might not only help to improve the fertility of our farm animals but also our understanding of human health and reproduction.......Communication during early pregnancy is essential for successful reproduction. In this review we address the beginning of the communication between mother and developing embryo; including morphological and transcriptional changes in the endometrium as well as epigenetic regulation mechanisms...

  12. Maternity waiting homes: A panacea for maternal/neonatal ...

    African Journals Online (AJOL)

    health workers who have life saving skills in emergency obstetric care including the application ... to mitigate against the attendant high maternal mortality rates in hard to reach regions. Objective: To assess pregnancy ... the introduction of maternity waiting homes in some hard to reach sub-zobas of Eritrea. Methods: A rapid ...

  13. Maternal ethanol ingestion: effect on maternal and neonatal glucose balance

    International Nuclear Information System (INIS)

    Witek-Janusek, L.

    1986-01-01

    Liver glycogen availability in the newborn is of major importance for the maintenance of postnatal blood glucose levels. This study examined the effect of maternal ethanol ingestion on maternal and neonatal glucose balance in the rate. Female rats were placed on 1) the Lieber-DeCarli liquid ethanol diet, 2) an isocaloric liquid pair-diet, or 3) an ad libitum rat chow diet at 3 wk before mating and throughout gestation. Blood and livers were obtained from dams and rat pups on gestational days 21 and 22. The pups were studied up to 6 h in the fasted state and up to 24 h in the fed state. Maternal ethanol ingestion significantly decreased litter size, birth weight, and growth. A significantly higher mortality during the early postnatal period was seen in the prenatal ethanol exposed pups. Ethanol significantly decreased fed maternal liver glycogen stores but not maternal plasma glucose levels. The newborn rats from ethanol ingesting dams also had significantly decreased liver glycogen stores. Despite mobilizing their available glycogen, these prenatal ethanol exposed pups became hypoglycemic by 6 h postnatal. This was more marked in the fasted pups. Ethanol did not affect maternal nor neonatal plasma insulin levels. Thus maternal ethanol ingestion reduces maternal and neonatal liver glycogen stores and leads to postnatal hypoglycemia in the newborn rat

  14. Maternal mortality ratio in a Tertiary Hospital offering free maternity ...

    African Journals Online (AJOL)

    AbstRACt. Aim: To determine annual trends of maternal mortality ratio in a tertiary hospital offering free maternity services. settings and Design: This retrospective descriptive study was conducted at the Mother and Child Hospital Akure, Ondo. State, a busy purpose‑built tertiary care facility premised on evidence‑based ...

  15. Trends in maternal mortality for the Greater Harare Maternity Unit ...

    African Journals Online (AJOL)

    Trends in maternal mortality for the Greater Harare Maternity Unit: 1976 to 1996. F Majoko, T Chipato, V Illif. Abstract. No Abstract. Central African Journal of Medicine Vol. 47 (8) 2001: pp. 199-202. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT.

  16. Maternal Mortality in a Nigerian Maternity Hospital | Olopade ...

    African Journals Online (AJOL)

    It is necessary to improve the quality of emergency obstetric service as well as reduce the cost and to educate women of reproductive age in Ibadan on the importance of booking for antenatal care and family planning. (Afr. J. Biomed. Res. 11: 267 - 273). Key words: Maternal mortality, case-control study, maternal death, ...

  17. Estimating maternal genetic effects in livestock

    NARCIS (Netherlands)

    Bijma, P.

    2006-01-01

    This study investigates the estimation of direct and maternal genetic (co)variances, accounting for environmental covariances between direct and maternal effects. Estimated genetic correlations between direct and maternal effects presented in the literature have often been strongly negative, and

  18. Inherited thrombophilia in women with poor aPL-related obstetric history: prevalence and outcomes. Survey of 208 cases from the European Registry on Obstetric Antiphospholipid Syndrome cohort.

    Science.gov (United States)

    Alijotas-Reig, Jaume; Ferrer-Oliveras, Raquel; Esteve-Valverde, Enrique; Ruffatti, Amelia; Tincani, Angela; Lefkou, Elmina; Bertero, Maria Tiziana; Espinosa, Gerard; Coloma, Emmanuel; de Carolis, Sara; Rovere-Querini, Patrizia; Canti, Valentina; Picardo, Elisa; Fredi, Micaela; Mekinian, Arsene

    2016-08-01

    To analyse the prevalence and effects of inherited thrombophilic disorders (ITD) on maternal-foetal outcomes in cases of antiphospholipid antibody related to obstetric complications. Women with obstetric complaints who tested positive for aPL and with inherited thrombophilia were prospectively and retrospectively included. ITD data were available in 208 of 338: 147 had obstetric antiphospholipid syndrome (OAPS) and 61 aPL-related obstetric morbidity (OMAPS). 24.1% had ITD. Laboratory categories I and IIa were more related to OAPS-ITD and IIb and IIc to OMAPS-ITD. No significant differences in obstetric complaints were observed. Regarding ITD carriers, treatment rates were higher in OAPS than in OMAPS for LMWH and LDA plus LMWH (P=.002). Cases with aPL-related OAPS/OMAPS showed no differences in maternal-foetal outcomes regardless of the presence of one ITD. Maternal thrombotic risk was low, with ITD-positive cases included. Registry data concur with Sydney criteria, whereby aPL-ITD-positive patients are classified as having antiphospholipid syndrome. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. 26 CFR 1.1014-8 - Bequest, devise, or inheritance of a remainder interest.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 11 2010-04-01 2010-04-01 true Bequest, devise, or inheritance of a remainder... (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES Basis Rules of General Application § 1.1014-8 Bequest, devise, or inheritance of a remainder interest. (a)(1) Where property is transferred for life, with remainder...

  20. A Rare Case of Inherited Factor‑II Deficiency Causing Life ...

    African Journals Online (AJOL)

    Careful history taking and clinical suspicion for an underlying bleeding ... disorders. Menorrhagia may be the only clinical manifestation of an inherited bleeding disorder. We report a case of inherited hypoprothrombinemia (factor II deficiency), a rare bleeding ... Bleeding disorder as a cause of life threatening menorrhagia.

  1. The effects of inheritance in tetraploids on genetic diversity and population divergence

    NARCIS (Netherlands)

    Meirmans, P.G.; van Tienderen, P.H.

    2013-01-01

    Polyploids are traditionally classified into allopolyploids and autopolyploids, based on their evolutionary origin and their disomic or multisomic mode of inheritance. Over the past decade it has become increasingly clear that there is a continuum between disomic and multisomic inheritance, with the

  2. Inheritance of fresh seed dormancy in Spanish-type peanut (Arachis ...

    African Journals Online (AJOL)

    USER

    2010-03-29

    Mar 29, 2010 ... inheritance of fresh seed dormancy among Spanish type varieties were carried out. Depending on whether epistasis was detected or not in inheritance of the trait, breeders suggested different strategies of ... beyond additive and dominance effects, there is duplicate epistasis in the control of fresh seed ...

  3. Using Mendelian inheritance errors as quality control criteria in whole genome sequencing data set.

    Science.gov (United States)

    Pilipenko, Valentina V; He, Hua; Kurowski, Brad G; Alexander, Eileen S; Zhang, Xue; Ding, Lili; Mersha, Tesfaye B; Kottyan, Leah; Fardo, David W; Martin, Lisa J

    2014-01-01

    Although the technical and analytic complexity of whole genome sequencing is generally appreciated, best practices for data cleaning and quality control have not been defined. Family based data can be used to guide the standardization of specific quality control metrics in nonfamily based data. Given the low mutation rate, Mendelian inheritance errors are likely as a result of erroneous genotype calls. Thus, our goal was to identify the characteristics that determine Mendelian inheritance errors. To accomplish this, we used chromosome 3 whole genome sequencing family based data from the Genetic Analysis Workshop 18. Mendelian inheritance errors were provided as part of the GAW18 data set. Additionally, for binary variants we calculated Mendelian inheritance errors using PLINK. Based on our analysis, nonbinary single-nucleotide variants have an inherently high number of Mendelian inheritance errors. Furthermore, in binary variants, Mendelian inheritance errors are not randomly distributed. Indeed, we identified 3 Mendelian inheritance error peaks that were enriched with repetitive elements. However, these peaks can be lessened with the inclusion of a single filter from the sequencing file. In summary, we demonstrated that erroneous sequencing calls are nonrandomly distributed across the genome and quality control metrics can dramatically reduce the number of mendelian inheritance errors. Appropriate quality control will allow optimal use of genetic data to realize the full potential of whole genome sequencing.

  4. The double pedigree: a method for studying culturally and genetically inherited behavior in tandem.

    Directory of Open Access Journals (Sweden)

    Etienne Danchin

    Full Text Available Transgenerational sources of biological variation have been at the center of evolutionary studies ever since Darwin and Wallace identified natural selection. This is because evolution can only operate on traits whose variation is transmitted, i.e. traits that are heritable. The discovery of genetic inheritance has led to a semantic shift, resulting in the tendency to consider that only genes are inherited across generations. Today, however, concepts of heredity are being broadened again to integrate the accruing evidence of non-genetic inheritance, and many evolutionary biologists are calling for the inclusion of non-genetic inheritance into an inclusive evolutionary synthesis. Here, we focus on social heredity and its role in the inheritance of behavioral traits. We discuss quantitative genetics methods that might allow us to disentangle genetic and non-genetic transmission in natural populations with known pedigrees. We then propose an experimental design based on cross-fostering among animal cultures, environments and families that has the potential to partition inherited phenotypic variation into socially (i.e. culturally and genetically inherited components. This approach builds towards a new conceptual framework based on the use of an extended version of the animal model of quantitative genetics to integrate genetic and cultural components of behavioral inheritance.

  5. National level maternal health decisions

    NARCIS (Netherlands)

    Koduah, A.

    2016-01-01

    Maternal and neonatal deaths and morbidity still pose an enormous challenge for health authorities in Ghana, a lower middle income country. Despite massive investments in maternal and neonatal health and special attention through Millennium Development Goals (MDG) 4

  6. Maternal Gatekeeping: Antecedents and Consequences

    Science.gov (United States)

    Gaunt, Ruth

    2008-01-01

    This study examined maternal gatekeeping, its background and psychological antecedents, and its consequences for paternal and maternal involvement in child care. In sum, 209 couples with 6- to 36-month-old children completed extensive questionnaires. Analyses revealed that various dimensions of gate-keeping were differentially associated with the…

  7. Evolution of maternal effect senescence.

    Science.gov (United States)

    Moorad, Jacob A; Nussey, Daniel H

    2016-01-12

    Increased maternal age at reproduction is often associated with decreased offspring performance in numerous species of plants and animals (including humans). Current evolutionary theory considers such maternal effect senescence as part of a unified process of reproductive senescence, which is under identical age-specific selective pressures to fertility. We offer a novel theoretical perspective by combining William Hamilton's evolutionary model for aging with a quantitative genetic model of indirect genetic effects. We demonstrate that fertility and maternal effect senescence are likely to experience different patterns of age-specific selection and thus can evolve to take divergent forms. Applied to neonatal survival, we find that selection for maternal effects is the product of age-specific fertility and Hamilton's age-specific force of selection for fertility. Population genetic models show that senescence for these maternal effects can evolve in the absence of reproductive or actuarial senescence; this implies that maternal effect aging is a fundamentally distinct demographic manifestation of the evolution of aging. However, brief periods of increasingly beneficial maternal effects can evolve when fertility increases with age faster than cumulative survival declines. This is most likely to occur early in life. Our integration of theory provides a general framework with which to model, measure, and compare the evolutionary determinants of the social manifestations of aging. Extension of our maternal effects model to other ecological and social contexts could provide important insights into the drivers of the astonishing diversity of lifespans and aging patterns observed among species.

  8. Material inheritances: an affective story in the history of elderly persons

    Directory of Open Access Journals (Sweden)

    Liliana Sousa

    2015-10-01

    Full Text Available Material inheritance is an important theme in old age, tied up to the life story and with shaping the manner in which one will be remembered. This study adopts the self-confrontation method to explore the meanings and affects that elderly persons attach to the material inheritance, taking into consideration their experiences both as heirs and donors. The sample comprises five participants (80-95 years. Main findings suggest a process of transmitting material inheritance characterized by the creation of a material legacy throughout life and from both positions (donor and heir; resolution related to receiving inheritances (heir position; and transferral as a donor later on in life. This process seems to play an affective role at individual (self-autonomy vs. lost love and familial (union vs. isolation levels. The transmission of material inheritance represents a lifelong task that connects past, present, and future and links generations.

  9. Analysis of Rules for Islamic Inheritance Law in Indonesia Using Hybrid Rule Based Learning

    Science.gov (United States)

    Khosyi'ah, S.; Irfan, M.; Maylawati, D. S.; Mukhlas, O. S.

    2018-01-01

    Along with the development of human civilization in Indonesia, the changes and reform of Islamic inheritance law so as to conform to the conditions and culture cannot be denied. The distribution of inheritance in Indonesia can be done automatically by storing the rule of Islamic inheritance law in the expert system. In this study, we analyze the knowledge of experts in Islamic inheritance in Indonesia and represent it in the form of rules using rule-based Forward Chaining (FC) and Davis-Putman-Logemann-Loveland (DPLL) algorithms. By hybridizing FC and DPLL algorithms, the rules of Islamic inheritance law in Indonesia are clearly defined and measured. The rules were conceptually validated by some experts in Islamic laws and informatics. The results revealed that generally all rules were ready for use in an expert system.

  10. Inheritance Law between Common and Civil Law - As exemplified by life-long support contracts

    Directory of Open Access Journals (Sweden)

    Jadranka Đorđević-Crnobrnja

    2016-02-01

    Full Text Available The dualism between common law and civil law in Serbia has been examined in theoretical and factographical ethnological and legal literature, yet this problem in the sphere of inheritance law has been considered mostly within the context of inequality between the sexes in matters of inheritance. As a result, the question of the connection between life-long support contracts and inheritance remains unexplored, despite the fact that through the analysis of inheritance practices based on this kind of contract the influence of socio-cultural mechanisms on the institution of inheritance can be clearly observed. These insights, together with the fact that a dualism and parallelism of civil and common have existed in Serbia for more than a century, have inspired an analysis of life-long support contracts in order to problematize the relation between common law and civil law in practice.

  11. Cryptic species? Patterns of maternal and paternal gene flow in eight neotropical bats.

    Directory of Open Access Journals (Sweden)

    Elizabeth L Clare

    Full Text Available Levels of sequence divergence at mitochondrial loci are frequently used in phylogeographic analysis and species delimitation though single marker systems cannot assess bi-parental gene flow. In this investigation I compare the phylogeographic patterns revealed through the maternally inherited mitochondrial COI region and the paternally inherited 7(th intron region of the Dby gene on the Y-chromosome in eight common Neotropical bat species. These species are diverse and include members of two families from the feeding guilds of sanguivores, nectarivores, frugivores, carnivores and insectivores. In each case, the currently recognized taxon is comprised of distinct, substantially divergent intraspecific mitochondrial lineages suggesting cryptic species complexes. In Chrotopterus auritus, and Saccopteryx bilineata I observed congruent patterns of divergence in both genetic regions suggesting a cessation of gene flow between intraspecific groups. This evidence supports the existence of cryptic species complexes which meet the criteria of the genetic species concept. In Glossophaga soricina two intraspecific groups with largely sympatric South American ranges show evidence for incomplete lineage sorting or frequent hybridization while a third group with a Central American distribution appears to diverge congruently at both loci suggesting speciation. Within Desmodus rotundus and Trachops cirrhosus the paternally inherited region was monomorphic and thus does not support or refute the potential for cryptic speciation. In Uroderma bilobatum, Micronycteris megalotis and Platyrrhinus helleri the gene regions show conflicting patterns of divergence and I cannot exclude ongoing gene flow between intraspecific groups. This analysis provides a comprehensive comparison across taxa and employs both maternally and paternally inherited gene regions to validate patterns of gene flow. I present evidence for previously unrecognized species meeting the criteria of

  12. Strict fibonacci heaps

    DEFF Research Database (Denmark)

    Brodal, Gerth Stølting; Lagogiannis, George; Tarjan, Robert E.

    2012-01-01

    We present the first pointer-based heap implementation with time bounds matching those of Fibonacci heaps in the worst case. We support make-heap, insert, find-min, meld and decrease-key in worst-case O(1) time, and delete and delete-min in worst-case O(lg n) time, where n is the size of the heap...... of the smaller heap when doing a meld. We use the pigeonhole principle in place of the redundant counter mechanism. We present the first pointer-based heap implementation with time bounds matching those of Fibonacci heaps in the worst case. We support make-heap, insert, find-min, meld and decrease-key in worst...

  13. Online Recorded Data-Based Composite Neural Control of Strict-Feedback Systems With Application to Hypersonic Flight Dynamics.

    Science.gov (United States)

    Xu, Bin; Yang, Daipeng; Shi, Zhongke; Pan, Yongping; Chen, Badong; Sun, Fuchun

    2017-09-25

    This paper investigates the online recorded data-based composite neural control of uncertain strict-feedback systems using the backstepping framework. In each step of the virtual control design, neural network (NN) is employed for uncertainty approximation. In previous works, most designs are directly toward system stability ignoring the fact how the NN is working as an approximator. In this paper, to enhance the learning ability, a novel prediction error signal is constructed to provide additional correction information for NN weight update using online recorded data. In this way, the neural approximation precision is highly improved, and the convergence speed can be faster. Furthermore, the sliding mode differentiator is employed to approximate the derivative of the virtual control signal, and thus, the complex analysis of the backstepping design can be avoided. The closed-loop stability is rigorously established, and the boundedness of the tracking error can be guaranteed. Through simulation of hypersonic flight dynamics, the proposed approach exhibits better tracking performance.

  14. Global neural dynamic surface tracking control of strict-feedback systems with application to hypersonic flight vehicle.

    Science.gov (United States)

    Xu, Bin; Yang, Chenguang; Pan, Yongping

    2015-10-01

    This paper studies both indirect and direct global neural control of strict-feedback systems in the presence of unknown dynamics, using the dynamic surface control (DSC) technique in a novel manner. A new switching mechanism is designed to combine an adaptive neural controller in the neural approximation domain, together with the robust controller that pulls the transient states back into the neural approximation domain from the outside. In comparison with the conventional control techniques, which could only achieve semiglobally uniformly ultimately bounded stability, the proposed control scheme guarantees all the signals in the closed-loop system are globally uniformly ultimately bounded, such that the conventional constraints on initial conditions of the neural control system can be relaxed. The simulation studies of hypersonic flight vehicle (HFV) are performed to demonstrate the effectiveness of the proposed global neural DSC design.

  15. Iterative algorithms for the input and state recovery from the approximate inverse of strictly proper multivariable systems

    Science.gov (United States)

    Chen, Liwen; Xu, Qiang

    2018-02-01

    This paper proposes new iterative algorithms for the unknown input and state recovery from the system outputs using an approximate inverse of the strictly proper linear time-invariant (LTI) multivariable system. One of the unique advantages from previous system inverse algorithms is that the output differentiation is not required. The approximate system inverse is stable due to the systematic optimal design of a dummy feedthrough D matrix in the state-space model via the feedback stabilization. The optimal design procedure avoids trial and error to identify such a D matrix which saves tremendous amount of efforts. From the derived and proved convergence criteria, such an optimal D matrix also guarantees the convergence of algorithms. Illustrative examples show significant improvement of the reference input signal tracking by the algorithms and optimal D design over non-iterative counterparts on controllable or stabilizable LTI systems, respectively. Case studies of two Boeing-767 aircraft aerodynamic models further demonstrate the capability of the proposed methods.

  16. Monolithic InP strictly non-blocking 8×8 switch for high-speed WDM optical interconnection.

    Science.gov (United States)

    Kwack, Myung-Joon; Tanemura, Takuo; Higo, Akio; Nakano, Yoshiaki

    2012-12-17

    A strictly non-blocking 8 × 8 switch for high-speed WDM optical interconnection is realized on InP by using the phased-array scheme for the first time. The matrix switch architecture consists of over 200 functional devices such as star couplers, phase-shifters and so on without any waveguide cross-section. We demonstrate ultra-broad optical bandwidth covering the entire C-band through several Input/Output ports combination with extinction ratio performance of more than 20dB. Also, nanoseconds reconfiguration time was successfully achieved by dynamic switching experiment. Error-free transmission was verified for 40-Gbps (10-Gbps × 4ch) WDM signal.

  17. The LHC Continuous Cryostat Interconnections The Organization of a Logistically Complex Worksite Requiring Strict Quality Standards and High Output

    CERN Document Server

    Fessia, P; Bozzini, D; Cruikshank, P; Jacquemod, A; Maan, W; Musso, A; Oberli, L; Poncet, A; Russenschuck, Stephan; Savary, F; Struik, M; Tock, J Ph; Tommasini, D; Völlinger, C; Kotarba, A; Olek, S; Sulek, Z; Grimaud, A; Vaudaux, L

    2008-01-01

    The interconnections of the Large Hadron Collider (LHC) continuous cryostat have been completed in fall 2007: 1695 interconnections magnet to magnet and 224 interconnections between the continuous cryostat and the cryogenic distribution line have been executed along the 27 km of the LHC. The very tight schedule, the complexity of the interconnection sequence, the strict quality standards applied have required the creation of an ad hoc organization in order to steer and coordinate the activities on the worksite dispersed along the whole accelerator ring. The concatenation of construction and test phases carried out by CERN staff, CERN collaborating institutes and contractors have led to the necessity of a common approach and of a very effective information flow. In this paper, after having recalled the main technical challenges, we review the organizational choices that have been taken and we briefly analyze the development of the worksite in term of allocated resources and production.

  18. Analysis of strictly bound modes in photonic crystal fibers by use of a source-model technique.

    Science.gov (United States)

    Hochman, Amit; Leviatan, Yehuda

    2004-06-01

    We describe a source-model technique for the analysis of the strictly bound modes propagating in photonic crystal fibers that have a finite photonic bandgap crystal cladding and are surrounded by an air jacket. In this model the field is simulated by a superposition of fields of fictitious electric and magnetic current filaments, suitably placed near the media interfaces of the fiber. A simple point-matching procedure is subsequently used to enforce the continuity conditions across the interfaces, leading to a homogeneous matrix equation. Nontrivial solutions to this equation yield the mode field patterns and propagation constants. As an example, we analyze a hollow-core photonic crystal fiber. Symmetry characteristics of the modes are discussed and exploited to reduce the computational burden.

  19. Development of a PCR assay based on the 16S-23S rDNA internal transcribed spacer for identification of strictly anaerobic bacterium Zymophilus

    Czech Academy of Sciences Publication Activity Database

    Felsberg, Jürgen; Jelínková, Markéta; Kubizniaková, P.; Matoulková, D.

    2015-01-01

    Roč. 33, June (2015), s. 85-89 ISSN 1075-9964 Institutional support: RVO:61388971 Keywords : Brewing microbiology * Strictly anaerobic bacteria * Yeast contamination Subject RIV: GM - Food Processing Impact factor: 2.424, year: 2015

  20. Strict blood glucose control by an artificial endocrine pancreas during hepatectomy may prevent postoperative acute kidney injury.

    Science.gov (United States)

    Mita, Naoji; Kawahito, Shinji; Soga, Tomohiro; Takaishi, Kazumi; Kitahata, Hiroshi; Matsuhisa, Munehide; Shimada, Mitsuo; Kinoshita, Hiroyuki; Tsutsumi, Yasuo M; Tanaka, Katsuya

    2017-03-01

    The aim of the present study was to evaluate the usefulness of a closed-loop system (STG-55; Nikkiso, Tokyo, Japan), a type of artificial endocrine pancreas for the continuous monitoring and control of intraoperative blood glucose, for preventing postoperative acute kidney injury (AKI) in patients undergoing hepatectomy. Thirty-eight patients were enrolled in this study. Glucose concentrations were controlled with either a manual injection of insulin based on a commonly used sliding scale (manual insulin group, n = 19) or the programmed infusion of insulin determined by the control algorithm of the artificial endocrine pancreas (programmed insulin group, n = 19). After the induction of anesthesia, a 20-G intravenous catheter was inserted into the peripheral forearm vein of patients in the programmed insulin group and connected to an artificial endocrine pancreas (STG-55). The target range for glucose concentrations was set to 100-150 mg/dL. The mean serum creatinine concentrations of preoperative, postoperative 24 and 48 h were 0.72, 0.78, and 0.79 mg/dL in the programmed insulin group, and 0.81, 0.95, and 1.03 mg/dL in the manual insulin group, respectively. Elevations in serum creatinine concentrations postoperative 48 h were significantly suppressed in the programmed insulin group. The STG-55 closed-loop system was effective for maintaining strict blood glucose control during hepatectomy with minimal variability in blood glucose concentrations and for suppressing elevations in serum creatinine concentrations. Strict blood glucose control by an artificial endocrine pancreas during hepatectomy may prevent postoperative AKI.