نتایج جستجو برای: taybi syndrome
تعداد نتایج: 621935 فیلتر نتایج به سال:
Volume 90, Number 1 www.aafp.org/afp American Family Physician 47 A 24-year-old asymptomatic man requested a chest radiograph for routine tuberculosis screening. He did not have difficulty breathing, palpitations, chest pain, or edema. His medical history was significant for scoliosis and Rubinstein-Taybi syndrome, a rare genetic condition that causes short stature, broad thumbs and toes, hirsu...
We develop a pricing algorithm for US-style period-average reset options written on an underlying asset which evolves in a Cox-Ross-Rubinstein (CRR) framework. The averaging feature of such an option on the reset period makes the price valuation problem computationally unfeasible because the arithmetic average is not recombining on a CRR tree. To overcome this obstacle, we associate to each nod...
Abnormal foot mechanics is the most common cause of hallux abducto valgus. To date no quantitative data regarding the relationship between abnormal foot mechanics and the degree of hallux abducto valgus has been presented. An outline of the abnormal foot mechanics responsible for hallux abducto valgus is described along with a technique for measuring the extent of abnormal function. A common in...
At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...
During the past six years numerous studies identified histone deacetylase (HDAC) inhibitors as candidate drugs for the treatment of neurodegenerative disorders. Two major neuroprotective mechanisms of HDAC inhibitors have been identified, namely the transcriptional activation of disease-modifying genes and the correction of perturbations in histone acetylation homeostasis, which have been shown...
Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in EP300. Previously, the EP300 mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo EP300 frameshi...
Deletions, translocations, or point mutations in the CREB-binding protein (CBP) gene have been associated with Rubinstein-Taybi Syndrome; a human developmental disorder characterized by retarded growth and reduced mental function. To examine the role of CBP in memory, transgenic mice were generated in which the CaMKII alpha promoter drives expression of an inhibitory truncated CBP protein in fo...
Theories of bounded rationality are typically characterized over an exhaustive data set. This paper aims to operationalize some leading theories when the available data is limited, as is the case in most practical settings. How does one tell if observed choices are consistent with a theory of bounded rationality if the data is incomplete? What information can be identified about preferences? Ho...
BACKGROUND Adolescents often experiment with drug use, which can impact on their health and well-being and increase the probability of problem drug use. Yet, not enough is known about which psychological indicators is related with the initiation of drug use among young adults and have predictive power. MATERIALS AND METHODS Participants in this study were 311 boys (school and college students...
We prove a version for randommeasures of the celebrated KantorovichRubinštein duality theorem and we give an application to the coupling of random variables which extends and unifies known results. Résumé Nous démontrons une version du théorème de dualité de KantorovichRubinštein pour les mesures aléatoires, et nous donnons une application au couplage des variables aléatoires qui étend et unifi...
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