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排序方式: 共有309条查询结果,搜索用时 15 毫秒
1.
Calciphylaxis – a topical overview 总被引:3,自引:0,他引:3
G Arseculeratne† AT Evans‡ SM Morley† 《Journal of the European Academy of Dermatology and Venereology》2006,20(5):493-502
'Calciphylaxis', a calcification syndrome associated with ischaemic cutaneous necrosis, is acquired naturally in humans in disease states. It is a life and limb-threatening complication, usually observed in patients with renal disease and secondary hyperparathyroidism, but known to occur in the absence of renal or parathyroid disease. The reported mortality rate, which ranges from 60-80%, relates to wound infection, sepsis and organ failure. It is a small-vessel vasculopathy, which is estimated to occur in about 4% of haemodialysis patients. Clinically, violaceous, reticulate areas of cutaneous necrosis and eschar may be evident, particularly in the extremities. In addition to the clinical picture, a raised calcium phosphorous product, an elevated parathyroid hormone level, radiographic evidence of vessel and soft-tissue calcification and the finding of mural calcification affecting small arteries and arterioles on histopathology help to confirm the diagnosis of this entity which generally has a poor prognosis. A high index of suspicion and an active multidisciplinary management approach, with rigorous attention to wound care and prevention of sepsis, are vital in the management of these patients. In this overview, we discuss the pathophysiology, clinical features and associations, risk factors, diagnosis and management issues relating to calciphylaxis. 相似文献
2.
3.
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy 总被引:3,自引:0,他引:3
Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM 《Human molecular genetics》1998,7(7):1179-1184
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to
within an 8 cM interval on chromosome 17p12-p13. The retinal- specific
guanylate cyclase gene (RETGC-1), which maps to within this genetic
interval and previously was implicated in Leber's congenital amaurosis, was
screened for mutations within this family and in a panel of small families
and individuals with various cone and cone- rod dystrophy phenotypes. A
missense mutation (E837D) was identified in affected members of the CORD6
family, as well as a second missense mutation (R838C) in three other
families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene
to be implicated in cone-rod dystrophy and this is the first report of
dominant mutations in this gene.
相似文献
4.
As we age, our skeletal muscle becomes smaller and weaker. In addition, the remaining muscle is more susceptible to damage, particularly following exercise, recovery from damage is severely impaired and muscle is unable to adapt rapidly following sequential periods of exercise. The mechanisms by which skeletal muscle damage occurs are poorly understood and the role that an increased production of free radical species plays in this damage is controversial. However, evidence is emerging which suggests that an increased production of free radicals may act as an activator of the adaptive response in skeletal muscle, resulting in the increased production of antioxidant enzymes and heat shock proteins (HSPs). The increased content of these proteins facilitates rapid remodelling of muscle and provides considerable protection against subsequent periods of damaging exercise. There is considerable evidence that the production of free radicals is modified during the ageing process. The aim of this review is to examine the possible effects of this modification on the ability of muscle cells to respond to stress and the functional effect that this may have on our muscles as we age. 相似文献
5.
Anderson RA; Wallace AM; Kicman AT; Wu FC 《Human reproduction (Oxford, England)》1997,12(8):1657-1662
Administration of supraphysiological doses of testosterone to normal men
causes inhibition of spermatogenesis, but while most become azoospermic,
30-55% maintain a low rate of spermatogenesis. We have investigated whether
there are differences in endogenous androgen production, of testicular and
adrenal origin, which may be related to the degree of suppression of
spermatogenesis. Thirty-three healthy Caucasian men were given weekly i.m.
injections of 200 mg testosterone oenanthate (TE), 18 became azoospermic,
while 15 remained oligozoospermic. Urinary excretion of epitestosterone, a
specific testicular product, was reduced to <10% of pretreatment values,
with no differences between the groups. Similar results were obtained for
other markers of testicular steroidogenesis. Urinary and plasma adrenal
androgens were also reduced during TE treatment: a statistically
significant decrease in both (P < 0.001 and P < 0.05 respectively)
was seen in the azoospermic but not oligozoospermic responders. These
results suggest that testicular steroidogenesis is decreased to <10% by
the administration of supraphysiological doses of exogenous testosterone.
Differences in the degree of ongoing steroidogenesis in the testis do not
appear to account for incomplete suppression of spermatogenesis, thus
differences in androgen metabolism may underlie this heterogeneous
response. A small but significant reduction in secretion of adrenal
androgens was also detectable, the relevance of which is unclear.
相似文献
6.
Berry V; Ionides AC; Moore AT; Plant C; Bhattacharya SS; Shiels A 《Human molecular genetics》1996,5(3):415-419
Inherited cataract is a clinically and genetically heterogeneous disease.
Here we report the identification of a new locus for an autosomal dominant
anterior polar cataract on the short arm of chromosome 17. To map this new
locus we performed genetic linkage analysis with microsatellite markers in
a four-generation pedigree. After exclusion of seven candidate loci for
cataract, we obtained significant positive LOD scores for markers D17S849
(Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint
analysis gave a maximum LOD score of 5.2 (theta max = 0.06) between these
two markers. From haplotype analysis, the cataract locus lies in the 13 cM
interval between markers D17S849 and D17S796. This study provides the first
genetic mapping of an autosomal dominant anterior polar cataract.
相似文献
7.
Tamanini F; Willemsen R; van Unen L; Bontekoe C; Galjaard H; Oostra BA; Hoogeveen AT 《Human molecular genetics》1997,6(8):1315-1322
Lack of expression of the fragile X mental retardation protein (FMRP)
results in mental retardation and macroorchidism, seen as the major
pathological symptoms in fragile X patients. FMRP is a cytoplasmic RNA-
binding protein which cosediments with the 60S ribosomal subunit. Recently,
two proteins homologous to FMRP were discovered: FXR1 and FXR2. These novel
proteins interact with FMRP and with each other and they are also
associated with the 60S ribosomal subunit. Here, we studied the expression
pattern of the three proteins in brain and testis by immunohistochemistry.
In adult brain, FMR1, FXR1 and FXR2 proteins are coexpressed in the
cytoplasm of specific differentiated neurons only. However, we observed a
different expression pattern in fetal brain as well as in adult and fetal
testis, suggesting independent functions for the three proteins in those
tissues during embryonic development and adult life.
相似文献
8.
Cortistatin is a 14-residue putative neuropeptide with strong structural similarity to somatostatin. Even if it shares several biological properties with somatostatin, the effects of cortistatin on cortical electrical activity and sleep are opposite to those elicited by somatostatin. We recently demonstrated that somatostatin could modulate glutamate sensitivity, either positively through activation of the sstl receptor subtype, or negatively through activation of the sst2 receptor subtype in hypothalamic neurons in culture which express almost exclusively these two sst subtypes. Thus, in the present study we compared the effects of cortistatin and somatostatin in hypothalamic neurons in culture, in order to define the former peptide activity on both subtypes. We first determined that the affinities of cortistatin and somatostatin were similar on cloned rat sstl and sst2 receptor subtypes in transfected cells and hypothalamic neurons membranes. We then found that cortistatin, like somatostatin, depresses the glutamate response but, unlike somatostatin, never potentiates glutamate sensitivity in hypothalamic neurons. The observed effect of cortistatin is strongly suggestive of an activation of the somatostatin sst2 receptor subtype in hypothalamic neurons in culture. 相似文献
9.
10.
Katerina Kotzampassi Olga Vasilaki Christina Stefanidou Vasilis Grosomanidis 《Asian journal of endoscopic surgery》2013,6(3):214-216
Here we present the case of Candida albicans colonization on an intragastric balloon placed for weight loss. A 52‐year‐old obese woman achieved a BMI reduction of 10.9 kg/m2 within 7 months as a result of a BioEnterics Intragastric Balloon and a well‐balanced, low‐calorie diet. During endoscopy for balloon removal, the balloon, which was well impacted in the gastric fundus, was found to be lime green in color with clusters of cone‐shaped cultures on its surface. Microbiology assessment revealed the presence of Candida albicans, although the patient was totally asymptomatic. 相似文献