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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.
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
5.
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
6.
Lovering Ruth; Middleton-Price Helen R.; O'Reilly Marie-Anne J.; Genet Sally A.; Parkar Mohammed; Sweatman Angela K.; Bradley Linda D.; Alterman Lesley A.; Malcolm Sue; Morgan Gareth; Levinsky Roland J.; Kinnon Christine 《Human molecular genetics》1993,2(2):139-141
Genetic linkage analysis has been instrumental in mapping thegene for X-linked agammaglobulinemia (XLA) to the proximal longarm of the human X chromosome, to Xq22. Due to the relativerarity of this disease the localization of the gene within Xq22has remained imprecise. We have investigated twenty-nine familiesaffected by XLA and have found no recombinants with the DXS178locus in over 30 informative meioses. DXS178 is now the mostreliable and informative locus for use in pre-natal diagnosisand carrier detection of XLA. In addition, we have identifiednew closely linked proximal and distal flanking markers forXLA, DXS442 and DXS101, respectively. These loci are separatedby 2cM, considerably reducing the extent of DNA within whichthe XLA locus can be contained. This will open up the way formore directed positional cloning efforts for the isolation ofthe XLA gene. 相似文献
7.
A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
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A Sweatman R Lovering H Middleton-Price A Jones G Morgan R Levinsky C Kinnon 《Journal of medical genetics》1993,30(6):512-514
The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this polymorphism has been important in carrier status determination in a family with XLA where assessment was not possible by other means. 相似文献
8.
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
9.
10.
R. E. Foulger P. Denny J. Hardy M. J. Martin T. Sawford R. C. Lovering 《Neuroinformatics》2016,14(3):297-304
The Gene Ontology (GO) is widely recognised as the gold standard bioinformatics resource for summarizing functional knowledge of gene products in a consistent and computable, information-rich language. GO describes cellular and organismal processes across all species, yet until now there has been a considerable gene annotation deficit within the neurological and immunological domains, both of which are relevant to Parkinson’s disease. Here we introduce the Parkinson’s disease GO Annotation Project, funded by Parkinson’s UK and supported by the GO Consortium, which is addressing this deficit by providing GO annotation to Parkinson’s-relevant human gene products, principally through expert literature curation. We discuss the steps taken to prioritise proteins, publications and cellular processes for annotation, examples of how GO annotations capture Parkinson’s-relevant information, and the advantages that a topic-focused annotation approach offers to users. Building on the existing GO resource, this project collates a vast amount of Parkinson’s-relevant literature into a set of high-quality annotations to be utilized by the research community. 相似文献