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Nand L. Sharma Vikram K. Mahajan Neelam Gupta Nitin Ranjan and Anju Lath 《Journal of cutaneous pathology》2009,36(4):486-492
Ehlers-Danlos syndrome – vascular type, the only lethal form, is rarely reported in dermatology literature. It is characterized by translucent, atrophic skin, easy bruising, arterial, intestinal and/or uterine fragility manifesting as varicose veins, aneurysms and vascular/visceral/uterine rupture. As its dermatopathologic features are not well elucidated, diagnosis is often made after a catastrophic complication or at autopsy. This 36 year-old non-consanguineous male had brown-black plaques with atrophy and frequent ulceration over legs and dorsal feet and tortuous varicose veins around ankles for the past 15 years. Perivenous skin was translucent and hypopigmented. He had multiple and ecchymotic keloids and small atrophic, pityriasis versicolor-like lesions over trunk. He did not have hypermobile/hyperextensible skin and joints and showed no systemic or investigative abnormality. Histopathologic features of atrophic lesion included blood extravasation in atrophic epidermis/dermis, focal clustering and dilatation of blood vessels, malformed vessel walls, abundant hemosiderin in the dermis and homogenously stained/whorled patterned collagen especially around blood vessels. Pathology of keloidal lesion showed new collagen and vascular fragility. These histopathologic features appear of diagnostic value especially in patients who have compatible clinical findings but cannot afford confirmation by biochemical testing for abnormal synthesis of type III procollagen or identification of mutations in the COL3A1 gene. 相似文献
3.
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An out line of the scheme of training specialists in Otorhinolaryngology-Head and Neck Surgery (ORL-HNS) in South Africa is
given and the difference with Indian training discussed 相似文献
5.
Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease 总被引:3,自引:0,他引:3
Brindle N; Song Y; Rogaeva E; Premkumar S; Levesque G; Yu G; Ikeda M; Nishimura M; Paterson A; Sorbi S; Duara R; Farrer L; St George-Hyslop P 《Human molecular genetics》1998,7(5):933-935
The K-variant of butyrylcholinesterase (BCHE-K) recently has been reported
to be associated with Alzheimer disease (AD) in carriers of the epsilon4
allele of the apolipoprotein E (APOE) gene. We have re- examined the
frequency of the BCHE-K allele in a large data set of both sporadic and
familial cases of AD disease, and we have also examined the segregation of
three genetic markers on chromosome 3 near BCHE . Our data neither support
an association of BCHE-K with sporadic or familial AD, nor do they suggest
the existence of another gene nearby on chromosome 3 as a common cause of
familial AD.
相似文献
6.
Vegetarians may have subtle nutritional deficiencies which have been related to the occurrence of an unrecognized malabsorption syndrome. The excess phytate content in cereals, nuts, legumes and oilseeds which represent the mainstay of their food intake, seems to play a central role in the pathogenesis of this malabsorption syndrome as an inverse relationship has been shown to link the phytate content of the diet with the intestinal absorption of trace minerals and proteins. We postulate that manipulating the endogenous digestive microflora of subjects on a vegetarian diet through administering probiotic lactic bacteria would represent an innovative tool to counteract the occurrence of the malabsorption syndrome dependent on the high phytate content of their diet. Even though there are no data about the composition of endogenous digestive microflora in subjects on a vegetarian diet, we expect that probiotic lactobacilli can interact with or affect distinct yet interrelated components within the intestinal milieu, such as epithelial cells, enteric flora, and/or mucosal immune cells. This would ultimately translate into the correction of the unregulated mechanisms implicated in the altered intestinal absorption of trace metals and proteins commonly seen in vegetarians. Clinical experience with probiotic therapy of patients with inflammatory bowel disease fully agrees with this view. One additional point of interest is that probiotic lactobacilli, and other species of the endogenous digestive microflora as well, are an important source of the enzyme phytase which catalyses the release of phosphate from phytate and hydrolyses the complexes formed by phytate and metal ions or other cations, rendering them more soluble ultimately improving and facilitating their intestinal absorption. The regular intake of probiotic preparation, may represent a cheap and safe tool in order to convert a diet with a low potential for bioavailability of trace minerals and proteins, such as the vegetarian diet, into a diet with a high bioavailability potential. The benefit of such an approach would not be restricted to vegetarians. 相似文献
7.
Ranajit Chakraborty Ranjan Deka Li Jin Robert E. Ferrell 《American journal of human biology》1992,4(3):387-397
Because of their high degree of polymorphisms, the variable number of tandem repeat (VNTR) loci have become extremely useful in studies involving gene mapping, determination of identity and relatedness of individuals, and evolutionary relationships among populations. However, there are some concerns regarding whether or not the patterns of such genetic variation can be studied by the classical population models that are developed for studying genetic variation at blood groups and protein loci, since VNTR alleles detected by molecular size may not always be identical by descent. Although theoretical and empirical studies demonstrate that this concern is overstated, this study provides further support of the application of the traditional mutation-drift models to predict the pattern of intra- and inter-populational variation at VNTR loci. By comparing genetic variation at six VNTR loci with that at 16 blood groups and protein loci in three ethnically defined populations, we show that the patterns of variability at these two sets of loci are in general parallel to each other. Shared VNTR alleles among populations are generally more frequent than the ones which are not present in every population; the proportion of shared alleles among populations increases with increasing genetic similarity of populations; and the number of VNTR alleles is positively correlated with gene diversity at these loci. All of these observations are in agreement with the prediction of the mutation-drift models, particularly when the possibility of forward-backward mutations are taken into account. This parallelism of genetic variation at VNTR loci and blood groups/protein loci further asserts the potential of using such hypervariable loci for microevoltionary studies, where closely related populations may exhibit considerably less allele frequency differences at the classical blood group and protein loci. © 1992 Wiley-Liss, Inc. 相似文献
8.
Processing of interaural temporal disparities in the medial division of the ventral nucleus of the lateral lemniscus 总被引:1,自引:0,他引:1
The medial division of the ventral nucleus of the lateral lemniscus (VNLLm) contains a specialized population of neurons that is sensitive to interaural temporal disparities (ITDs), a potent cue for sound localization along the azimuth. Unlike many ITD-sensitive neurons elsewhere in the auditory system, neurons in the VNLLm respond only at the onset of tones. An onset response may be significant for behavior because, under echoic conditions, tones require sharp onsets for accurate localization. In contrast, noise can generally be localized even with gradual onsets, presumably because transients occur at random intervals in noise. We recorded responses of neurons in the VNLLm to tones and noise in unanesthetized rabbits. We found that although tones elicited a transient response, noise elicited a sustained response as if it was a sequence of transients. The responses to tones indicate that these neurons represent a secondary stage in the processing of ITDs. The onset response to tones was only weakly synchronized to the phase of the tone, indicating that neurons in the VNLLm inherit their sensitivity to ITDs from their inputs. The latencies were short (~8 ms), implying that the ITD sensitivity is derived from ascending inputs. Most neurons in the VNLLm discharged maximally at the same ITD at all frequencies, a characteristic shared with neurons of the medial superior olive. However, the latency of neurons in the VNLLm to interaurally delayed stimuli is linked strongly to the timing of the contralateral stimulus. This suggests that these neurons receive a suprathreshold, contralateral input that is modulated by a subthreshold input conveying information about ITDs. Other stations in the auditory pathway contain a subset of neurons that respond transiently to tones and are sensitive to ITDs. These neurons may represent a novel pathway that assists in localizing sounds in the presence of reflections. 相似文献
9.
Shankaran S Laptook AR Ehrenkranz RA Tyson JE McDonald SA Donovan EF Fanaroff AA Poole WK Wright LL Higgins RD Finer NN Carlo WA Duara S Oh W Cotten CM Stevenson DK Stoll BJ Lemons JA Guillet R Jobe AH;National Institute of Child Health Human Development Neonatal Research Network 《The New England journal of medicine》2005,353(15):1574-1584
10.
Lee Jin Won Kim Eun Young Bat-Ulzii Altanzul Sharma Ashish Ranjan Kim Hae Sung 《European Surgery》2021,53(6):294-298
European Surgery - To analyze the benefit and feasibility of single-incisional laparoscopic totally extraperitoneal (SIL TEP) repair compared with those of conventional laparoscopic TEP... 相似文献