Annals of the New York Academy of Sciences
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Sleep is present and tightly regulated in every vertebrate species in which it has been carefully investigated, but what sleep is for remains a mystery. Sleep is also present in invertebrates, and an extensive analysis in Drosophila melanogaster has shown that sleep in fruit flies shows most of the fundamental features that characterize sleep in mammals. In Drosophila, sleep consists of sustained periods of quiescence associated with an increased arousal threshold. ⋯ Finally, sleep deprivation in flies impairs vigilance and performance. Because of the extensive similarities between flies and mammals, Drosophila is now being used as a promising model system for the genetic dissection of sleep. Over the last few years, mutagenesis screens have isolated several short sleeping mutants, a demonstration that single genes can have a powerful effect on a complex trait like sleep.
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Ann. N. Y. Acad. Sci. · Jan 2008
Clinical TrialThoracoscopic thymectomy with the da Vinci robotic system for myasthenia gravis.
Complete thymectomy (Thx) is a crucial part of treatment for myasthenia gravis (MG) and thymoma. The discussion about the necessity of radical, complete Thx and reduced invasiveness has led to no less than 14 different surgical approaches for Thx. The latest development is robotic-assisted surgery. ⋯ From the technical point of view, rThx has advantages for mediastinal dissection. rThx had a shorter learning curve. There might be better outcome results for rThx in MG patients, as compared with nonrobotic tThx. Therefore, rThx is a promising technique for minimally invasive Thx.
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Ann. N. Y. Acad. Sci. · Jan 2008
Structural factors influencing the efficacy of neuromuscular transmission.
Neuromuscular junctions (NMJs) in different species share many features of structure and function. At the same time, important differences distinguish, for example, human NMJs from those in other species. An understanding of the biological context of the human NMJ helps in the interpretation of the effects of disease on the biophysical properties of neuromuscular transmission. ⋯ A genetic influence on NMJ size has recently been discovered in some patients with limb-girdle myasthenia (LGM). Mutations of the gene encoding Dok-7, an essential component of the agrin-muscle-specific kinase pathway that controls postsynaptic differentiation at the mammalian NMJ, results in impaired transmission because the NMJs are abnormally small and have reduced folding but have a normal local density of normal acetylcholine receptors. This condition emphasizes the importance of structural features in achieving reliability of neuromuscular transmission.
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Lymphangioleiomyomatosis (LAM) is a rare, multisystem disease affecting primarily premenopausal women. The disease is characterized by cystic lung disease, at times leading to respiratory compromise, abdominal tumors (in particular, renal angiomyolipomas), and involvement of the axial lymphatics (e.g., adenopathy, lymphangioleiomyomas). Disease results from the proliferation of neoplastic cells (LAM cells), which, in many cases, have a smooth muscle cell phenotype, express melanoma antigens, and have mutations in one of the tuberous sclerosis complex genes (TSC1 or TSC2). ⋯ Lymphatic channels, expressing characteristic lymphatic endothelial cell markers, are found within the LAM lung nodules. LAM cells may also be localized within the walls of the axial lymphatics, and, in some cases, penetrate the wall and proliferate in the surrounding adipose tissue. Consistent with extensive lymphatic involvement in LAM, the serum concentration of VEGF-D, a lymphangiogenic factor, is higher in LAM patients than in healthy volunteers.
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Ann. N. Y. Acad. Sci. · Jan 2008
Poverty: the double burden of malnutrition in mothers and the intergenerational impact.
Women are doubly vulnerable to malnutrition, because of their high nutritional requirements for pregnancy and lactation and also because of gender inequalities in poverty. Undernutrition and overnutrition coexist in developing countries undergoing rapid nutrition transition, and women are susceptible to this double burden of "dysnutrition," often cumulating stunting or micronutrient malnutrition with obesity or other nutrition-related chronic diseases. ⋯ Addressing malnutrition and nutrition-related chronic diseases simultaneously is a challenge facing developing countries, and examples of promising initiatives are provided. Focusing on women along the lifecycle, according to the continuum of care approach, is essential to achieving the Millennium Development Goals and to breaking the intergenerational cycle of poverty, malnutrition, and ill-health.