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Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has been recognized as a clinical entity. Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of Apert syndrome. We report a case of Apert syndrome presenting as fetal hydrocephaly at 28 weeks gestational age, and we review the literature. We suggest that hydrocephalus should be considered as a major associated malformation, and a complete evaluation with sonogram and computed tomography scan is recommended in any newborn suspected of having Apert syndrome after routine cephalometric measurement. 相似文献
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Lipids are considered to protect protein allergens from proteolysis and are generally seen to exist in a bound form. One of the well‐known plant protein families with bound lipids is non‐specific lipid transfer proteins (nsLTPs). Structure‐function relationships in the case of the members of non‐specific lipid transfer protein family are not clearly understood. As part of exploring the seed proteome, we have analyzed the proteome of a member of Solanaceae family, Solanum melongena (eggplant) and a non‐specific lipid transfer protein from S. melongena, SM80.2 was purified, crystallized and the structure was determined at 1.87 Å resolution. Overall, the tertiary structure is a cluster of α‐helices forming an internal hydrophobic cavity. Absence of conserved Tyr79, known to govern the plasticity of hydrophobic cavity, and formation of hydrogen bond between Asn79 and Asn36 further reduced the pocket size. Structural analysis of SM80.2 thus gives insight about a new hydrogen bond mediated mechanism followed in closure of the binding pocket. Extra electron densities observed at two different places on the protein surface and not in the cavity could provide interesting physiological relevance. In light of allergenic properties, probably overlapping of epitopic region and ligand binding on surface could be a main reason. This work shows first crystal structure of A‐like nsLTP with a close binding pocket and extra density on the surface suggesting a plausible intermediate state during transfer. 相似文献
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Visible Raman excitation laser induced power and exposure dependent effects in red blood cells 下载免费PDF全文
Sunita Ahlawat Nitin Kumar Abha Uppal Pradeep Kumar Gupta 《Journal of biophotonics》2017,10(3):415-422
We present results of Raman spectroscopic studies carried out on optically trapped red blood cells with Raman excitation wavelength in Q‐band region of the hemoglobin (Hb) absorption spectrum. The results obtained suggest that when exposed to the Raman excitation laser the RBCs get deoxygenated due to photo‐dissociation of oxygen from hemoglobin. For smaller exposure durations (5 s) the level of deoxygenation increases with an increase in power. However, for longer exposure durations the deoxygenated hemoglobin in the cells gets irreversibly oxidized to form a low spin ferric derivative of hemoglobin. The rate of oxidation depends upon the initial level of deoxygenation; higher the initial level of deoxygenation, higher is the rate of oxidation. However, the RBCs deoxygenated via oxygen deprivation (i.e. N2 purging) were found to be very stable against any laser induced effect. These observations suggests that in case of laser induced deoxygenation of RBCs the free oxygen generated by photo‐dissociation acts as the oxidizing agent and leads to oxidative damage of the RBCs.
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