Search results for "Retardation"
showing 10 items of 76 documents
Edwin Power and the birth of dressed atoms
2006
This paper reviews the main results of a twenty year-long international collaborative effort led by the late E.A. Power on the physics of atoms dressed by the vacuum electromagnetic field. The presentation uses the historical, rather than the logical, order of development. This permits one to shed light on the influence of Power's personality and human qualities on the birth and evolution of the notion of the dressed atom, which is central to modern non-relativistic QED.
The Mutation without childrenrgl Causes Ecdysteroid Deficiency in Third-Instar Larvae of Drosophila melanogaster
2000
Larvae homozygous for the recessive lethal allele without children(rgl) (woc(rgl)) fail to pupariate. Application of exogenous 20-hydroxyecdysone elicits puparium formation and pupation. Ecdysteroid titer measurements on mutant larvae show an endocrine deficiency in the brain-ring gland complex, which normally synthesizes ecdysone, resulting in a failure of the larvae to achieve a threshold whole body hormone titer necessary for molting. Ultrastructural investigation revealed extensive degeneration of the prothoracic cells of the ring gland in older larvae. The woc gene, located in polytene chromosomal region 97F, consists of 11 exons. A 6.8-kb transcript is expressed throughout development…
The aristaless (Arx) gene: one gene for many "interneuronopathies".
2009
The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…
Attribution style in adolescents with Down’s sindrome
2005
Educational research places emphasis on the fact that individuals who have experienced repeated failures may develop an attribution profile characterized by a bias towards primarily external causes. The aim of this study is to compare the attribution style of adolescents with Down's syndrome with that of normal children and adolescents matched for mental and chronological age; three groups consisting of 10 participants each were employed, an experimental group and two control groups were employed. The experimental group were Down's syndrome adolescents. Participants in the first control group were matched to the experimental groups for mental age, and those in the second for chronological a…
Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay
2005
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).
A systematic review of maternal smoking during pregnancy and fetal measurements with meta-analysis
2017
Maternal smoking during pregnancy is linked to reduced birth weight but the gestation at onset of this relationship is not certain. We present a systematic review of the literature describing associations between maternal smoking during pregnancy and ultrasound measurements of fetal size, together with an accompanying meta-analysis. Studies were selected from electronic databases (OVID, EMBASE and Google Scholar) that examined associations between maternal smoking or smoke exposure and antenatal fetal ultrasound measurements. Outcome measures were first, second or third trimester fetal measurements. There were 284 abstracts identified, 16 papers were included in the review and the meta-anal…
Blood rheology at term in normal pregnancy and in patients with adverse outcome events.
2009
Plasma volume expansion of more than 1.5 1 and sustainable activation of the hemostatic system that results in a steady rise of the fibrinogen/fibrin turnover are contemporary physiological events during normal pregnancy. In contrast, adverse outcome of pregnancy i.e. pre-eclampsia commonly coincide with hemo concentration and over activation of blood coagulation both of which alter blood rheology. On the basis of 4,985 consecutively recorded singleton pregnancies values range of blood rheological parameters in women with normal and complicated outcome of pregnancy at the time of their delivery were compared. Plasma viscosity (pv) was determined using KSPV 1 Fresenius and RBC aggregation (s…
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
2011
CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli
The development of children's perception of hierarchical patterns : an investigation across tasks and populations
2011
The thesis investigated the development of children’s global/local processing hierarchical patterns introduced by Navon (1977). The objectives were to understand more comprehensively the developmental characteristics of children’s perception through their global and local processing of hierarchical patterns, by considering the effects of age, stimuli properties, duration of exposure to the stimuli and gender in a perceptual task and a drawing task. These effects were tested in 3 different populations: typically developing children, children with mental retardation and early blind children. The results revealed that typically developing children attended to both the local and global level of…
Ernährungsphysiologie erhitzter Fette: Langfristige Tierversuche
1974
Das Fette, die bei intensiver Beruhrung mit dem Luftsauerstoff langere Zeit auf hohere Temperaturen erhitzt worden sind, toxische Eigenschaften entwickeln, ist in vielen Laboratorien ubereinstimmend gezeigt worden. Je nach Schwere des Eingriffs reichen die bei Futterungsversuchen erhobenen Befunde von einer praktisch symptomenlosen Vertraglichkeit uber mehr oder minder schwere Wachstumsverzogerungen junger Tiere bis zu einer hohen Toxicitat wie starke Erhohung der Letalitatsrate und schweren anatomischen und histologischen Veranderungen der Organe. Fritierfette haben sich beim Einhalten der folgenden Bedingungen: Temperaturen nicht uber 180° C, Vermeiden jeder lokalen Uberhitzung durch einw…