Search results for " determinism"
showing 10 items of 54 documents
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North Am…
2011
Objective To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Study design Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were com…
Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation
2003
Pendred's syndrome, an autosomal-recessive condition characterized by congenital sensorineural hearing loss and goiter, is caused by mutations in the PDS gene. Located on chromosome 7q22-q31, it encodes a chloride-iodide transporter expressed in the thyroid, inner ear, and kidney. We investigated the PDS gene of six affected individuals from four unrelated families with Pendred's syndrome by direct sequencing. PDS mutations were identified in homozygous or compound heterozygous state in all six cases. A homozygous missense mutation leading to the amino acid substitution S133T was detected in a family of Turkish origin. The mutations found in the other affected individuals, who originate fro…
La libertà tra determinismo naturale e determinismo teologico: Il De servo arbitrio di Lutero
2018
L'articolo analizza il rapporto tra determinismo naturale e storico da un lato e determinismo teologico dall'altro, così come Lutero lo affronta nel De servo arbitrio, a partire dalla sua concreta esperienza di fede. L'articolo cerca di mostrare come l'idea di determinismo di Lutero sia escludente l’opposta idea d’indeterminazione, ragion per cui egli rifiuta la concezione della libertà come libertas indifferentiae, ma non la contingenza degli eventi e quindi neppure l'autodeterminazione dell'uomo. Nell'articolo si mostra come la posizione di Lutero al riguardo sia stata accolta da Leibniz e da Hegel. The article analyzes the relationship between natural and historical determinism on the on…
Subalternità e filosofia della storia. Appunti sul carteggio Marx-Zasulič
2021
this article proposes, through the Gramscian political-pedagogical category of subalternity, a reading of the brief exchange of letters at the beginning of 1881 between Karl Marx and Vera Zasulič, a russian revolutionary militant at that time member of the populist group Čërnyj peredel (black repartition), on an issue of great importance for the russian socialist movement: the obščina, or that specific form of common ownership of land by russian peasants. to this end, it is necessary to analyze the chapter XXiV of the first book of Capital, in which Marx outlines the historical genesis of capitalism in Western europe and, in particular, in england, through the phenomenon of «the so-called o…
Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…
2008
Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…
A Precise Determination of the Number of Families With Light Neutrinos and of the Z Boson Partial Widths
1990
Title : The socialization at work in the federal universe, the determining element of the social regulation of the sports organization. Contribution to the social politics of the sport service of Nice city Abstract : This study postulates the existence of certain specific cultural determinism in the social regulation of the sports organization. It leans on a work of inquiry which concerns 148 agents of the municipal service of the sports of the Nice city. The investigation puts in evidence a causal report between the type of trajectory of professional insertion of the municipal agents and their level of support in the manager politics of the organization. The agents, whose bibliographic rou…
On Simon Nelson Patten’s Progressivism: A note
2020
This article is an attempt to offer an assessment of the main coordinates of Simon Nelson Patten’s views on democracy and biological determinism. This will allow us to better delineate the differences—as well as the affinities—between Patten and the core of progressives discussed by Thomas C. Leonard in a series of path-breaking contributions, culminating in his Illiberal Reformers: Race, Eugenics, and American Economics in the Progressive Era. It is our contention that even within the persisting intricacies, ambiguities, and contradictions of Patten’s expository style, it is possible to trace a shift in some aspects of his ideas—a gradual evolution that makes his peculiar brand of progress…
Correlating stress and somatic embryogenesis for NBT: myth or reality?
2018
Global warming and growing demography have increased demand for agronomic resources, leading to increasing lack of land suitable for agriculture and provoking several abiotic stresses which, added to biotic ones, result in physiological and metabolic disorders that impact on crop yield when most needed. Reducing this impact is a major scientific and agronomic challenge and biotechnology would be an efficient alternative. However, to reduce risks of somaclonal variation among regenerants it is better to produce them by somatic embryogenesis directly from explants or gametes, or indirectly from callus or cell suspensions. Thus, globular embryos regenerate and develop through to the heart, tor…
Kirjallisuus ja kausaaliset operaattorit : mitä kirjallisuus opettaa moraalista?
2015
Tutkielman tavoitteena on puhua kausaalisen determinismin nojalla kirjallisuuden tiedollisen merkityksen puolesta filosofisia ajatuskokeita vastaan. Pyrkimyksenä on osoittaa, että kirjallisuus voi kertomuksen mittaan pystyttää sellaisen kausaalisten suhteiden välisten ketjun, että niiden välisten merkitysten ymmärtämisen myötä lukija tulee omaksuneeksi tunnekokemukseen perustuvia tietoja ja uskomuksia. Filosofiset ajatuskokeet eivät kykene tuottamaan tällaista kokemukseen perustuvaa vaikutusvoimaa. Argumenttini tämän kokemustiedon puolesta nojaa kausaalisen determinismin jyrkkään muotoon, jonka mukaan kokemukset ohittavat tietoisuuden ja vapaan tahdon portinvartijat, ja ne tuntuvat affektei…
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
1998
SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.