scholarly journals Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria

2017 ◽  
pp. 99-106 ◽  
Author(s):  
Kosei Hasegawa ◽  
Hiroyuki Tanaka ◽  
Miho Yamashita ◽  
Yousuke Higuchi ◽  
Takayuki Miyai ◽  
...  
Keyword(s):  
Neonatal Onset ◽  
New Variant ◽  
Hereditary Coproporphyria

Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism

Blood ◽  
2001 ◽  
Vol 98 (13) ◽  
pp. 3871-3873 ◽  
Author(s):  
Harue Takeuchi ◽  
Masao Kondo ◽  
Makoto Daimon ◽  
Shinji Susa ◽  
Katsuhiko Ueoka ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Gene Mutation ◽  
Early Onset ◽  
Steroid Metabolism ◽  
Compound Heterozygous ◽  
Variant Form ◽  
Heterozygous State ◽  
Neonatal Onset ◽  
Hereditary Coproporphyria ◽  
Compound Heterozygous State

Abstract The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for harderoporphyria seems to be unique (K404E). Early-onset HCP, not harderoporphyria, is reported with a gene mutation in the heterozygous state and male pseudohermaphrodism. It was shown that adrenal gland hypofunction resulted in male pseudohermaphrodism. This case demonstrates the possibility that abnormalities of steroid metabolism influence porphyria.

Estimating the Valence of Single Stimuli: A New Variant of the Affective Simon Task

2003 ◽  
Vol 50 (2) ◽  
pp. 86-96 ◽  
Author(s):  
Andreas Voß ◽  
Klaus Rothermund ◽  
Dirk Wentura
Keyword(s):  
Simon Task ◽  
Emotional Expressions ◽  
Evaluation Task ◽  
New Variant ◽  
Game Context

Abstract. In this article, a modified variant of the Affective Simon Task (AST; De Houwer & Eelen, 1998 ) is presented as a measure of implicit evaluations of single stimuli. In the AST, the words “good” or “bad” have to be given as responses depending on the color of the stimuli. The AST was combined with an evaluation task to increase the salience of the valence of the presented stimuli. Experiment 1 investigated evaluations of schematic faces showing emotional expressions. In Experiment 2 we measured the valence of artificial stimuli that acquired valence in a game context during the experiment. Both experiments confirm the validity of the modified AST. The results also revealed a dissociation between explicit and implicit evaluations.

The Economic Theory of the Firm: A Generalization

2012 ◽  
pp. 41-66 ◽  
Author(s):  
M. Storchevoy
Keyword(s):  
Economic Theory ◽  
General Theory ◽  
Contract Theory ◽  
Theory Of The Firm ◽  
Material Structure ◽  
Structural Factors ◽  
Boundaries Of The Firm ◽  
Opportunistic Behaviour ◽  
New Variant

The paper deals with development of a general theory of the firm. It discusses the demand for such a theory, reviews existing approaches to its generalization, and offers a new variant of general theory of the firm based on the contract theory. The theory is based on minimization of opportunistic behaviour determined by the material structure of production (a classification of ten structural factors is offered). This framework is applied to the analysis of three boundaries problems (boundaries of the job, boundaries of the unit, boundaries of the firm) and five integration dilemmas (vertical, horizontal, functional, related, and conglomerate).

System of suborder Schistosomatida (Platyhelminthes: Trematoda)

2018 ◽  
Vol 12 (2) ◽  
pp. 11-12
Author(s):  
D.A. Azimov ◽  
F.D. Akramova ◽  
E.B. Shakarboev
Keyword(s):  
Current System ◽  
Research System ◽  
New Variant ◽  
Trichobilharzia Ocellata

The purpose of the research: system retrofit of suborder Schistosomatidа in reliance on their morfo-biological distinctions. Materials and methods. Samples of adult and 5 species of larvas have been collected and tested: Schistosoma turkestanicum Skryabin, 1913, Bilharziella polonica (Kowalewsky, 1899), Trichobilharzia ocellata (La Valette, 1854), Dendritobilharzia loossi Skryabin, 1924 and Gigantobilharzia acotylea Odhner, 1910. Adult phases of trematode have been identified in accordance to common methods. Identification of cercaria larva produced by water living shell-fish (Lymnaeidae, Planorbidae, Physidae, Melanoididae) has been carried out according to indicators. Current system of trematode suborder Schistosomatidа - vertebrate animals and man parasites are analyzed. Results and discussion. New variant of system of trematode suborder Schistosomatidа order is proposed. Schistosomatida morfo-biological distinctions and biocycles are taken as a basis. Two families are distinguished in this suborder: Schistosomatidae and Bilharziellidae, which represent parasites of warm-blooded vertebrate animals. There are two families of Sanguinicolidae and Spirorchiidae in suborder Sanguinicolida, which consist of fish and reptile parasites respectively. For Schistosomatida order the new underclass Schistosomatidea is founded. Sanguinicolida order is left as the part of Digenea underclass consisting of androgynous fluke.

New variant of ISOMAP for imperfect manifold

2013 ◽  
Vol 32 (7) ◽  
pp. 1987-1990
Author(s):  
Chao SHAO ◽  
Hui-juan ZHANG
Keyword(s):  
New Variant

scholarly journals NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

2014 ◽  
Vol 34 (5) ◽  
pp. 410-411 ◽  
Author(s):  
K T Leeman ◽  
L Dobson ◽  
M Towne ◽  
D Dukhovny ◽  
M Joshi ◽  
...  
Keyword(s):  
Neonatal Onset ◽  
Polycystic Disease

scholarly journals A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

2021 ◽  
Author(s):  
Domenico Umberto De Rose ◽  
Francesca Gallini ◽  
Domenica Immacolata Battaglia ◽  
Eloisa Tiberi ◽  
Simona Gaudino ◽  
...  
Keyword(s):  
Congenital Cataracts ◽  
Homozygous Variant ◽  
Neonatal Onset ◽  
The Brain
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