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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid H?ller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati
Case Reports in Genetics , 2013, DOI: 10.1155/2013/306098
Abstract: Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. 1. Introduction Wolf-Hirschhorn Syndrome (WHS) results from partial deletion of the distal short arm of chromosome 4 (4p16.3). The clinical features are variable, with increasing severity depending on the extent of the deletion, although the minimal diagnostic criteria should include the association of typical facial appearance, growth delay, mental retardation, and seizures [1]. Considering that small and large 4p16.3 deletions are associated with mild and severe WHS phenotype, respectively, Zollino et al. [1] have suggested a WHS classification in three categories based on the clinical presentation, all sharing the minimal diagnostic criteria: “mild” form (deletions < 3.5?Mb) refers to patients with a mild mental retardation (MR), possible fluent language, and usually independent walking by the age of 2-3 years; “classical” form (deletions 5–18?Mb) is characterized by major malformations, severe psychomotor delay (PMD), delay or absence of speech, and late walking; “severe” one (deletions > 22–25?Mb) has severe PMD and MR, facial anomalies, severe scoliosis, and psychotic behaviour. At a molecular level, two WHS critical regions (WHSCRs) have been identified: the WHSCR region, which is 165?Kb in size and it is located at about 2?Mb from the telomere between the markers D4S166 and D4S3327 [2], and the WHSCR-2 region which embraces a 300–600?Kb interval between the loci D4S3327 and D4S168 and it is mapped distal to WHSCR at about 1,9?Mb from the telomere [1]. Most of the 4p16 deletions involved in WHS occur de novo, but in 10%–15% of cases the derivative chromosome 4 originate from chromosomal rearrangements in one of the parents. Four different rearrangements are reported [1]: (1) isolated 4p deletion (70% of patients); (2) unbalanced translocation (22%); (3) inverted duplication associated with terminal 4p deletion (6%); (4) recombinant chromosome 4, rec(4), consisting of unbalanced pericentric inversion with a large 4q segment duplicated on the deleted 4p (2%). Herein we describe a
Dale’s Principle Is Necessary for an Optimal Neuronal Network’s Dynamics  [PDF]
Eleonora Catsigeras
Applied Mathematics (AM) , 2013, DOI: 10.4236/am.2013.410A2002

We study a mathematical model of biological neuronal networks composed by any finite number N ≥ 2 of non-necessarily identical cells. The model is a deterministic dynamical system governed by finite-dimensional impulsive differential equations. The statical structure of the network is described by a directed and weighted graph whose nodes are certain subsets of neurons, and whose edges are the groups of synaptical connections among those subsets. First, we prove that among all the possible networks such as their respective graphs are mutually isomorphic, there exists a dynamical optimum. This optimal network exhibits the richest dynamics: namely, it is capable to show the most diverse set of responses (i.e. orbits in the future) under external stimulus or signals. Second, we prove that all the neurons of a dynamically optimal neuronal network necessarily satisfy Dale’s Principle, i.e. each neuron must be either excitatory or inhibitory, but not mixed. So, Dale’s Principle is a mathematical necessary consequence of a theoretic optimization process of the dynamics of the network. Finally, we prove that Dale’s Principle is not sufficient for the dynamical optimization of the network.

Oscillating Statistics of Transitive Dynamics  [PDF]
Eleonora Catsigeras
Advances in Pure Mathematics (APM) , 2015, DOI: 10.4236/apm.2015.59049
Abstract: We prove that topologically generic orbits of C0 , transitive and non-uniquely ergodic dynamical systems, exhibit an extremely oscillating asymptotical statistics. Precisely, the minimum weak* compact set of invariant probabilities that describes the asymptotical statistics of each orbit of a residual set contains all the ergodic probabilities. If besides f is ergodic with respect to the Lebesgue measure, then also Lebesgue-almost all the orbits exhibit that kind of extremely oscillating statistics.
Un primitivo Notonychopidae (Litopterna) del Paleoceno inferior de Punta Peligro, Chubut, Argentina
Bonaparte, J. F.,Morales, J.
Estudios Geologicos , 1997, DOI: 10.3989/egeol.97535-6232
Abstract: The discovery of a new ungulate species, Requisia vidmari gen. nov., nov. sp. in the lower Paleocene of Punta Peligro, Chubut (Argentine) represents the earliest known record of Litopterna. The dental morphology of this new genus is very similar to that known for Notonychops powelli Soria, 1989, differing mainly by its more primitive M3, which is less elongated and less selenodont. Requisia vidmari, together with Wainka tshotshe Simpson, 1948, can be included in the family Notonychopidae, which appear to represent an ancestral grade in the evolution of Litopterna. Because cladogenesis of South American ungulates clearly took place prior to the Punta Peligro fauna and was apparently rapid, phylogenetic interpretation is difficult. Se comunica un nuevo ungulado con dentición pre-selenodonta del Paleoceno inferior, Peligrense, de Patagonia, Argentina. Su morfología dentaria es muy similar a la de Notonychops powelli Soria, 1989, pero con caracteres más primitivos. La morfología de las cúspides, el tipo de desgaste y los caracteres crescentiformes del M3 indican que Requisia vidmari gen. nov., sp. nov. presenta fuertes evidencias del desarrollo de caracteres selenodontos, por lo que se lo considera como el más primitivo representante del orden Litopterna. Requisia vidmari y probablemente Wainka tshotshe Simpson, 1948, son primitivos en relación a Notonychops, pero su similitud morfológica justificaría su inclusión en la misma familia Notonychopidae. Se considera que la radiación adaptativa de los ungulados paleocenos de América del Sur fue precoz, eventualmente rápida, lo que dificulta encontrar un modelo filogenético suficientemente explicativo.
Getting a Head Start: Diet, Sub-Adult Growth, and Associative Learning in a Seed-Eating Passerine
Kristina M. Bonaparte, Christina Riffle-Yokoi, Nancy Tyler Burley
PLOS ONE , 2011, DOI: 10.1371/journal.pone.0023775
Abstract: Developmental stress, and individual variation in response to it, can have important fitness consequences. Here we investigated the consequences of variable dietary protein on the duration of growth and associative learning abilities of zebra finches, Taeniopygia guttata, which are obligate graminivores. The high-protein conditions that zebra finches would experience in nature when half-ripe seed is available were mimicked by the use of egg protein to supplement mature seed, which is low in protein content. Growth rates and relative body proportions of males reared either on a low-protein diet (mature seed only) or a high-protein diet (seed plus egg) were determined from body size traits (mass, head width, and tarsus) measured at three developmental stages. Birds reared on the high-protein diet were larger in all size traits at all ages, but growth rates of size traits showed no treatment effects. Relative head size of birds reared on the two diets differed from age day 95 onward, with high-diet birds having larger heads in proportion to both tarsus length and body mass. High-diet birds mastered an associative learning task in fewer bouts than those reared on the low-protein diet. In both diet treatments, amount of sub-adult head growth varied directly, and sub-adult mass change varied inversely, with performance on the learning task. Results indicate that small differences in head growth during the sub-adult period can be associated with substantial differences in adult cognitive performance. Contrary to a previous report, we found no evidence for growth compensation among birds on the low-protein diet. These results have implications for the study of vertebrate cognition, developmental stress, and growth compensation.
Resecciones hepáticas sin tecnología de punta: ocho a?os de experiencia
Nari,Gustavo; Moreno,Eduardo; Feliu,Luis; Azar,Ricardo; Bonaparte,Fernando;
Revista Colombiana de Cirugía , 2011,
Abstract: background: liver resection is a major type of surgery. advanced technology as used in different centers constitutes an important support for its adequate performance. aim: to compare our results without the use of advanced technologies with those of centers that have them available. hypothesis: technology is not indispensable in liver resection. setting: clínica sucre, a tertiary level of care private center. design: observational retrospective and transverse analysis. material and methods: 72 hepatectomies performed in 68 patients were analyzed. sex, age, pathology, type of liver resection, associated procedures, blood transfusion, hospital stay, morbidity and mortality rates were evaluated. parenchymal section was made with “kellyclasie”. in the transection surface a warm water soaked-up compress was placed for a few minutes. results: there were 21 major hepatectomies. in 19 opportunities an associate procedure was required. cirrothic liver was present in 14 patients. blood transfusion was used in 26 cases (transfusional media 807.6 ml), 6 of them with normovolemic hemodilution. surgical time showed a media of 112 minutes. morbidity rate was 34.72 % and mortality rate 5.5 %. conclusion: our results are similar to those published by centers that use advanced technology for liver resection.
Conceptualising Animal Abuse with an Antisocial Behaviour Framework
Eleonora Gullone
Animals , 2011, DOI: 10.3390/ani1010144
Abstract: This paper reviews current findings in the human aggression and antisocial behaviour literature and those in the animal abuse literature with the aim of highlighting the overlap in conceptualisation. The major aim of this review is to highlight that the co-occurrence between animal abuse behaviours and aggression and violence toward humans can be logically understood through examination of the research evidence for antisocial and aggressive behaviour. From examination through this framework, it is not at all surprising that the two co-occur. Indeed, it would be surprising if they did not. Animal abuse is one expression of antisocial behaviour. What is also known from the extensive antisocial behaviour literature is that antisocial behaviours co-occur such that the presence of one form of antisocial behaviour is highly predictive of the presence of other antisocial behaviours. From such a framework, it becomes evident that animal abuse should be considered an important indicator of antisocial behaviour and violence as are other aggressive and antisocial behaviours. The implications of such a stance are that law enforcement, health and other professionals should not minimize the presence of animal abuse in their law enforcement, prevention, and treatment decisions.
Conocimiento y entendimiento: discusiones sobre el concepto de valor epistémico
Cresto, Eleonora;
Diánoia , 2011,
Abstract: in this paper i comment on m.á. fernández's paper on veritism and the value of understanding. i begin by observing that veritism relies on a definition of epistemic value that threatens to trivialize the discussion. then i proceed to examine fernandez's arguments with some detail.
Deterministic dynamics and chaos: Epistemology and interdisciplinary methodology
Interdisciplinaria , 2011,
Abstract: we analyze, from a theoretical viewpoint, the bidirectional interdisciplinary relation between mathematics and psychology, focused on the mathematical theory of deterministic dynamical systems, and in particular, on the theory of chaos. on one hand, there is the direct classic relation: the application of mathematics to psychology. on the other hand, we propose the converse relation which consists in the formulation of new abstract mathematical problems appearing from processes and structures under research of psychology. the bidirectional multidisciplinary relation from - to pure mathematics, largely holds with the ‘hard' sciences, typically physics and astronomy. but it is rather new, from the social and human sciences, towards pure mathematics. summarizing, the problem we focusing in this paper, is not only the application of the mathematical theory of dynamical systems to psychology, but mainly the following questions: which psychological processes are involved in the development of pure mathematics? how can a multidisciplinary space be organized to activate the converse relation, from psychology towards pure mathematics? how may psychology provide a rich field of new mathematical questions to be investigated, not only by applied mathematicians, but also by researchers on pure mathematics? even if large advances had been achieved, the application of the mathematical theory to psychology is still mainly developed by mathematical psychologists and applied mathematicians, in the absence of pure mathematicians. conversely, the development of the pure mathematics is now a days mainly developed in the absence of applied scientists, particularly of human and social researchers. this is the opposite situation to the antique posture, in which theoretical mathematics and philosophy, for instance, were almost a single science. along this paper we aim to found how the potential strength of the mathematical tools can be more fully exploited in the interdisciplinary space, an
Políticas de conserva??o e critérios ambientais: princípios, conceitos e protocolos
Trajano, Eleonora;
Estudos Avan?ados , 2010, DOI: 10.1590/S0103-40142010000100012
Abstract: biological concepts basic for environmental policies are discussed, such as biodiversity (based on the notion of variety), conservation, ecosystem resilience, fragility ad disturbance, accumulative effects and cautionary principle. we analyze two main tools for conservation decisions, i.e., priority areas for conservation of biodiversity and lists of threatened species (which have been, in the practice of licensing, the only criterion taken into account). we also detail minimum criteria in protocols for environmental studies: taxonomic (all groups should be sampled), spatial (including the project area and those affected by it) and temporal (at least three annual cycles) coverage, whose sufficiency should be tested through accumulation curves legislation concerning caves is used as an example.
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