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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.
John A. Carr B.S. Paul A. Schoon M.D. Katherine Y. Look M.D. 《Gynecologic oncology》1996,60(3):498-499
Following an abdominal hysterectomy and bilateral salpingoophorectomy wherein a superficial (1.6 mm) well-differentiated endometrial cancer and bilateral ovarian serous cystadenomas were discovered, estrogen replacement was given. One year later the patient presented with a 9 × 7-cm left groin recurrence. Patients with endometrial carcinoma may request estrogen replacement. The benefits of such replacement are well recognized; however, these patients also need to be counselled that hormonal replacement may be complicated by recurrence. Physicians need to be cognizant of symptoms or signs which would suggest disease recurrence at unusual sites in these patients who are perceived as being at low risk for recurrent disease. 相似文献
4.
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
5.
Glenn Perrigo Lee Belvin Paul Quindry Tarik Kadir Julie Becker Christine van Look John Niewoehner Frederick S. vom Saal 《Behavior genetics》1993,23(6):525-531
Infanticide is a reproductive strategy found in many mammals, especially rodents. The proportion of male and female house mice (Mus domesticus) that are either infanticidal or noninfanticidal is strain specific and varies widely from stock to stock. Male house mice also show strain-specific variation in the behavioral mechanisms that inhibit infanticidal individuals from killing their own offspring. The adult offspring generated from reciprocally crossed CF-1 and Wild stock house mice were tested for their behavior toward newborn pups. In male CF-1xWild hybrids, the proportion of infanticidal and noninfanticidal males matched with their maternal phenotype, whereas female CF-1xWild hybrids exhibited a proportion of behaviors typical of the CF-1 phenotype, regardless of their mother's genotype. Our results suggest three conclusions: first, that infanticide is a highly labile and heritable behavior in both sexes; second, that there is a sex difference in the genetic substrate that regulates the inheritance of infanticidal behavior; and third, that selection pressures in male mice may operate independently on the mechanisms that promote spontaneous infanticidal behavior versus the mechanisms that inhibit infanticide. 相似文献
6.
Detection of N-myc gene amplification by fluorescence in situ hybridization. Diagnostic utility for neuroblastoma. 总被引:4,自引:1,他引:4 下载免费PDF全文
D. N. Shapiro M. B. Valentine S. T. Rowe A. E. Sinclair J. E. Sublett W. M. Roberts A. T. Look 《The American journal of pathology》1993,142(5):1339-1346
We assessed fluorescence in situ hybridization (FISH) as an alternative to Southern blot analysis for determination of N-myc gene amplification in neuroblastoma. In the 44 pediatric solid tumor cell lines examined (20 neuroblastomas), the mean number of N-myc copies determined by FISH correlated closely with Southern blot results. There was wide intercellular variability in gene copy number in tumors that had evidence of amplification; however, tumors judged to be non-amplified completely lacked any cells with high N-myc copy number. FISH provided reliable estimates of N-myc amplification in 12 clinical samples even when the percentage of tumor was low. The other advantages of FISH over Southern blot analysis were speed and technical simplicity, ability to discern heterogeneous gene amplification among tumor cells in the same specimen, and capacity to determine the source of the amplified N-myc signal, whether extrachromosomal double-minute chromosomes, expanded intrachromosomal regions, or chromosome 2 aneuploidy. We conclude that FISH would refine the analysis of N-myc amplification in neuroblastoma and thus improve the assignment of patients to prognostic groups based on this unfavorable risk factor. 相似文献
7.
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
8.
We determined the clinical value of flow-cytometric measurement of tumor-cell DNA content, which reflects the chromosome number (ploidy), in patients with osteosarcoma of an extremity. Hyperdiploid stem lines were identified in 25 of 26 tumor samples obtained at diagnosis from patients who did not have clinically overt metastases. Near-diploid tumor stem lines coexisted with hyperdiploid lines in 15 of these 25 cases; an isolated near-diploid line was present in the 26th case. All 26 patients underwent definitive surgery and then were treated uniformly with intensive adjuvant combination chemotherapy. Kaplan-Meier analysis of both relapse-free and overall survival times showed that the presence of a near-diploid tumor stem line was associated with improved outcome (P = 0.003 for each comparison). After a median follow-up time of three years, pulmonary metastases developed in only 2 patients in the group with near-diploid lines, in contrast to 7 of the 10 with hyperdiploid lines exclusively. Near diploidy remained significantly associated with improved relapse-free survival after adjustment for the influence of age, the only clinical variable that showed prognostic strength in this analysis (P less than 0.01; relative risk, 0.08; 95 percent confidence interval, 0.02 to 0.48). Our findings demonstrate the usefulness of flow-cytometric determination of tumor-cell ploidy for predicting the sensitivity of histologically high-grade osteosarcoma to chemotherapeutic agents. Patients with a near-diploid tumor stem line can be expected to respond favorably to adjuvant chemotherapy as used in this study, whereas those with only hyperdiploid lines should be considered as candidates for alternative therapy. 相似文献
9.
Lim David W. Greene Brittany D. Look Hong Nicole J. 《Annals of surgical oncology》2021,28(10):5495-5506
Annals of Surgical Oncology - We aim to delineate the relationship between breast and axillary pathologic complete response (pCR) in patients receiving neoadjuvant chemotherapy for breast cancer.... 相似文献
10.
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