54 research outputs found
Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation
Background: There is speculation that an immature vestibular system may be associated with breech presentation at delivery. Our aim was to determine whether syndromes with congenital inner ear malformations were accompanied by a higher frequency of breech presentation/malpresentations than in the general population (2%â3%). Methods: A review was conducted for published literature using PubMed/MEDLINE (1936â2016), to determine frequency of breech presentation and transverse lie in cases with congenital deafness (Michel aplasia, Wildervanck syndrome, Mondini-Alexander dysplasia, Waardenburg syndrome, CHARGE syndrome, Large vestibular aqueductal syndrome, Pendred syndrome, Oculo-aurico-vertebral spectrum, Jervel and Lange-Nielsen syndrome, Usher syndrome, and Scheibe dysplasia) and vestibular nerve aplasia. Results: Identified were total of 122 cases. The frequency of breech presentation was 1.64%, and of transverse lie 1.64%, giving a total of 3.28% malpresentations. Conclusion: The results of the study suggest that congenital malformations of the vestibular apparatus are not associated with the increased risk of breech presentation at delivery
Cancer recurrence times from a branching process model
As cancer advances, cells often spread from the primary tumor to other parts
of the body and form metastases. This is the main cause of cancer related
mortality. Here we investigate a conceptually simple model of metastasis
formation where metastatic lesions are initiated at a rate which depends on the
size of the primary tumor. The evolution of each metastasis is described as an
independent branching process. We assume that the primary tumor is resected at
a given size and study the earliest time at which any metastasis reaches a
minimal detectable size. The parameters of our model are estimated
independently for breast, colorectal, headneck, lung and prostate cancers. We
use these estimates to compare predictions from our model with values reported
in clinical literature. For some cancer types, we find a remarkably wide range
of resection sizes such that metastases are very likely to be present, but none
of them are detectable. Our model predicts that only very early resections can
prevent recurrence, and that small delays in the time of surgery can
significantly increase the recurrence probability.Comment: 26 pages, 9 figures, 4 table
Imaging the Impact of Prenatal Alcohol Exposure on the Structure of the Developing Human Brain
Prenatal alcohol exposure has numerous effects on the developing brain, including damage to selective brain structure. We review structural magnetic resonance imaging (MRI) studies of brain abnormalities in subjects prenatally exposed to alcohol. The most common findings include reduced brain volume and malformations of the corpus callosum. Advanced methods have been able to detect shape, thickness and displacement changes throughout multiple brain regions. The teratogenic effects of alcohol appear to be widespread, affecting almost the entire brain. The only region that appears to be relatively spared is the occipital lobe. More recent studies have linked cognition to the underlying brain structure in alcohol-exposed subjects, and several report patterns in the severity of brain damage as it relates to facial dysmorphology or to extent of alcohol exposure. Future studies exploring relationships between brain structure, cognitive measures, dysmorphology, age, and other variables will be valuable for further comprehending the vast effects of prenatal alcohol exposure and for evaluating possible interventions
The modular systems biology approach to investigate the control of apoptosis in Alzheimer's disease neurodegeneration
Apoptosis is a programmed cell death that plays a critical role during the development of the nervous system and in many chronic neurodegenerative diseases, including Alzheimer's disease (AD). This pathology, characterized by a progressive degeneration of cholinergic function resulting in a remarkable cognitive decline, is the most common form of dementia with high social and economic impact. Current therapies of AD are only symptomatic, therefore the need to elucidate the mechanisms underlying the onset and progression of the disease is surely needed in order to develop effective pharmacological therapies. Because of its pivotal role in neuronal cell death, apoptosis has been considered one of the most appealing therapeutic targets, however, due to the complexity of the molecular mechanisms involving the various triggering events and the many signaling cascades leading to cell death, a comprehensive understanding of this process is still lacking. Modular systems biology is a very effective strategy in organizing information about complex biological processes and deriving modular and mathematical models that greatly simplify the identification of key steps of a given process. This review aims at describing the main steps underlying the strategy of modular systems biology and briefly summarizes how this approach has been successfully applied for cell cycle studies. Moreover, after giving an overview of the many molecular mechanisms underlying apoptosis in AD, we present both a modular and a molecular model of neuronal apoptosis that suggest new insights on neuroprotection for this disease
QCD and strongly coupled gauge theories : challenges and perspectives
We highlight the progress, current status, and open challenges of QCD-driven physics, in theory and in experiment. We discuss how the strong interaction is intimately connected to a broad sweep of physical problems, in settings ranging from astrophysics and cosmology to strongly coupled, complex systems in particle and condensed-matter physics, as well as to searches for physics beyond the Standard Model. We also discuss how success in describing the strong interaction impacts other fields, and, in turn, how such subjects can impact studies of the strong interaction. In the course of the work we offer a perspective on the many research streams which flow into and out of QCD, as well as a vision for future developments.Peer reviewe
Divergent structural brain abnormalities between different genetic subtypes of children with PraderâWilli syndrome
An integrated multidisciplinary model describing initiation of cancer and the Warburg hypothesis
The epigenetic memory of temperature during embryogenesis modiïŹes the expression of bud burst-related genes in Norway spruce epitypes
publishedVersio
Development and Validation of a New HPLC Method for Quantification of a Novel Antifungal Drug Based on 1,3,4-Thiadiazole and its Impurities
The epigenetic memory of temperature during embryogenesis modifies the expression of bud burst-related genes in Norway spruce epitypes
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