86 research outputs found
Congenital tumors: imaging when life just begins
BACKGROUND: The technical developments of imaging methods over the last 2 decades are changing our knowledge of perinatal oncology. Fetal ultrasound is usually the first imaging method used and thus constitutes the reference prenatal study, but MRI seems to be an excellent complementary method for evaluating the fetus. The widespread use of both techniques has increased the diagnosis rates of congenital tumors. During pregnancy and after birth, an accurate knowledge of the possibilities and limits of the different imaging techniques available would improve the information obtainable, thus helping the medical team to make the most appropriate decisions about therapy and to inform the family about the prognosis.
CONCLUSION: In this review article, we describe the main congenital neoplasms, their prognosis and their imaging characteristics with the different pre- and postnatal imaging methods available
Evolution of sex-specific pace-of-life syndromes: genetic architecture and physiological mechanisms
Sex differences in life history, physiology, and behavior are nearly ubiquitous across taxa, owing to sex-specific selection that arises from different reproductive strategies of the sexes. The pace-of-life syndrome (POLS) hypothesis predicts that most variation in such traits among individuals, populations, and species falls along a slow-fast pace-of-life continuum. As a result of their different reproductive roles and environment, the sexes also commonly differ in pace-of-life, with important consequences for the evolution of POLS. Here, we outline mechanisms for how males and females can evolve differences in POLS traits and in how such traits can covary differently despite constraints resulting from a shared genome. We review the current knowledge of the genetic basis of POLS traits and suggest candidate genes and pathways for future studies. Pleiotropic effects may govern many of the genetic correlations, but little is still known about the mechanisms involved in trade-offs between current and future reproduction and their integration with behavioral variation. We highlight the importance of metabolic and hormonal pathways in mediating sex differences in POLS traits; however, there is still a shortage of studies that test for sex specificity in molecular effects and their evolutionary causes. Considering whether and how sexual dimorphism evolves in POLS traits provides a more holistic framework to understand how behavioral variation is integrated with life histories and physiology, and we call for studies that focus on examining the sex-specific genetic architecture of this integration
Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry
The Rubinstein-Taybi Syndrome (RSTS) is a congenital disease that affects brain development causing severe cognitive deficits. In most cases the disease is associated with dominant mutations in the gene encoding the CREB binding protein (CBP). In this work, we present the first quantitative analysis of brain abnormalities in a mouse model of RSTS using magnetic resonance imaging (MRI) and two novel self-developed automated algorithms for image volumetric analysis. Our results quantitatively confirm key syndromic features observed in RSTS patients, such as reductions in brain size (-16.31%, p < 0.05), white matter volume (-16.00%, p < 0.05), and corpus callosum (-12.40%, p < 0.05). Furthermore, they provide new insight into the developmental origin of the disease. By comparing brain tissues in a region by region basis between cbp(+/-) and cbp(+/+) littermates, we found that cbp haploinsufficiency is specifically associated with significant reductions in prosencephalic tissue, such us in the olfactory bulb and neocortex, whereas regions evolved from the embryonic rhombencephalon were spared. Despite the large volume reductions, the proportion between gray-, white-matter and cerebrospinal fluid were conserved, suggesting a role of CBP in brain size regulation. The commonalities with holoprosencephaly and arhinencephaly conditions suggest the inclusion of RSTS in the family of neuronal migration disorders.We are grateful to Begona Fernandez for her excellent technical assistance. We would like to thank S. Sawiak (Wolfson Imaging Centre, University of Cambridge, Cambridge, United Kingdom) for the mouse brain tissue probability maps and the SPMmouse plug-in, and to N. Kovacevic (Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada) for the atlas of the mouse brain. Supported by grants from the Spanish MINECO to S.C. (BFU 2012-39958) and MINECO and FEDER to D.M. (TEC 2012-33778) and from MINECO (SAF2011-22855) and Generalitat Valenciana (Prometeo/2012/005) to A.B. The Instituto de Neurociencias is "Centre of Excellence Severo Ochoa".Ateca Cabarga, JC.; Cosa, A.; Pallares, V.; Lopez-Atalaya, JP.; Barco, A.; Canals, S.; Moratal Pérez, D. (2015). Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry. Scientific Reports. 5. https://doi.org/10.1038/srep16256S5Rubinstein, J. H. & Taybi, H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 105, 588–608 (1963).Van Belzen, M., Bartsch, O., Lacombe, D., Peters, D. J. & Hennekam, R. C. Rubinstein-Taybi syndrome (CREBBP, EP300). Eur J Hum Genet. 19, preceeding 118–120 (2011).Hennekam, R. C. 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Population genetics of sexual conflict in the genomic era
Sexual conflict occurs when selection acts in opposing directions on males and females. Case studies in both vertebrates and invertebrates indicate that sexual conflict maintains genetic diversity through balancing selection, which might explain why many populations show more genetic variation than expected. Recent population genomic approaches based on different measures of balancing selection have suggested that sexual conflict can arise over survival, not just reproductive fitness as previously thought. A fuller understanding of sexual conflict will provide insight into its contribution to adaptive evolution and will reveal the constraints it might impose on populations
Auditory localizing acuity during acute exposure to altitude.
We have investigated the effects of hypoxia in an altitude chamber on auditory localization. Ten volunteers were tested at 18,000 ft (5,486 m), and through 12,000, 8,000, and 5,000 ft (3,657, 2,438, and 1,524 m) with directional sounds recorded via a dummy head microphone and presented binaurally. The sequence encompassed the horizontal plane. We found large intersubject variation in the response to altitude but absolute error (unsigned error) was always increased: at 18,000 ft the mean effect for the group was highly significant (p < 0.00001). The effect persisted during descent (p < 0.001 at 12,000 ft). Directional bias (mean signed error) was also substantially affected in four subjects, in that sounds originally presented in the lateral quadrants were mislocated further to the rear (p < 0.05). The incidence of front/behind confusion was not affected by altitude. We discuss these findings in relation to the proposed use of directional sounds for flight navigation and warning systems
Descriptive study of the differences in the level of the conus medullaris in four different age groups
In performing neuraxial procedures, knowledge of the
location of the conus medullaris in patients of all ages is important. The aim of
this study was to determine the location of conus medullaris in a sample of newborn/infant cadavers and sagittal MRIs of children, adolescents and young
adults. MATERIALS AND METHODS: The subjects of both the samples were
subdivided into four developmental stages. No statistical difference was seen
between the three older age groups (p>0.05). A significant difference was
evident when the newborn/infant stage was compared with the other, older
stages (p<0.001 for all comparisons). RESULTS: In the newborn/infant group
the spinal cord terminated most frequently at the level of L2/L3 (16%). In the
childhood stage, the spinal cord terminated at the levels of T12/L1 and the
lower third of L1 (21%). In the adolescent population, it was most often found
at the level of the middle third of L1 and L1/L2 (19%). Finally, in the young
adult group, the spinal cord terminated at the level of L1/L2 (25%). This study
confirmed the different level of spinal cord termination between
newborns/infants less than one year old and subjects older than one year. In
this sample the conus medullaris was not found caudal to the L3 vertebral
body, which is more cranial than the prescribed level of needle insertion
recommended for lumbar neuraxial procedures. CONCLUSION: It is
recommended that the exact level of spinal cord termination should be
determined prior to attempting lumbar neuraxial procedures in newborns or
infants.http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-23532016-07-31hb201
An investigation into the physical stability of a neonatal parenteral nutrition formulation
Preliminary investigation of lethally toxic sera of SIDS victims and neutralisation by commercially available immunoglobulins and adult sera
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