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91.
The genetic basis of polycystic ovary syndrome 总被引:11,自引:3,他引:11
Franks S; Gharani N; Waterworth D; Batty S; White D; Williamson R; McCarthy M 《Human reproduction (Oxford, England)》1997,12(12):2641-2648
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women
of reproductive age. Familial clustering of cases suggests that genetic
factors play an important part in its aetiology. A number of studies of
families with several cases of PCOS have produced results suggesting an
autosomal dominant trait. Detailed analysis of a large number of affected
families has, however, cast some doubt about the mode of inheritance. An
autosomal dominant trait remains possible but a more complex aetiology
seems more likely. The results of our recent studies support the concept of
an oligogenic disorder in which genes affecting metabolic pathways in
glucose homeostasis and steroid biosynthesis are both involved. We review
evidence for an important role for the insulin gene minisatellite in the
aetiology of anovulatory PCOS and for the gene coding for P450 cholesterol
side chain cleavage (CYP11a) in the mechanism of excessive androgen
secretion in women with polycystic ovaries. We propose that the
heterogeneity of clinical and biochemical features in PCOS can be explained
by the interaction of a small number of key genes with environmental,
particularly nutritional, factors.
相似文献
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93.
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity 总被引:13,自引:5,他引:13
Eichler EE; Budarf ML; Rocchi M; Deaven LL; Doggett NA; Baldini A; Nelson DL; Mohrenweiser HW 《Human molecular genetics》1997,6(7):991-1002
A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD)
locus of the X chromosome has duplicated to specific locations near the
pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11.
Comparative sequence analysis reveals 92-96% nucleotide identity,
indicating that the autosomal ALD paralogs arose relatively recently during
the course of higher primate evolution (5-10 million years ago). Analysis
of sequences flanking the duplication region identifies the presence of an
unusual GCTTTTTGC repeat which may be a sequence-specific integration site
for the process of pericentromeric- directed transposition. The breakpoint
sequence and phylogenetic analysis predict a two-step transposition model,
in which a duplication from Xq28 to pericentromeric 2p11 occurred once,
followed by a rapid distribution of a larger duplicon cassette among the
pericentromeric regions. In addition to facilitating more effective
mutation detection among ALD patients, these findings provide further
insight into the molecular basis underlying a pericentromeric-directed
mechanism for non- homologous interchromosomal exchange.
相似文献
94.
95.
Controlled clinical trial of peritoneal lavage for the treatment of severe acute pancreatitis 总被引:11,自引:0,他引:11
A D Mayer M J McMahon A P Corfield M J Cooper R C Williamson A P Dickson M G Shearer C W Imrie 《The New England journal of medicine》1985,312(7):399-404
We performed a multicenter, randomized, controlled clinical trial of therapeutic peritoneal lavage (2 liters per hour for three days) in 91 patients with severe acute pancreatitis. Patients were entered into the study if severe pancreatitis was indicated by multiple laboratory criteria or diagnostic peritoneal lavage. All patients received full supportive treatment. The median time between the onset of symptoms and randomization was 38 hours. Forty-six patients were assigned to the control group and 45 to the lavage group. There were 13 deaths (28 per cent) and 16 patients with major complications (35 per cent) in the control group, as compared with 12 deaths (27 per cent) and 17 patients with major complications (38 per cent) in the lavage group. Lavage did not appear to modify the length of survival, the incidence of pancreatic collections (pseudocysts or abscesses), or the plasma amylase concentration. Considering the statistical power of the design, we conclude that the outcome of severe pancreatitis was not greatly, if at all, influenced by the regimen of peritoneal lavage used in this study. 相似文献
96.
Preparation, characterization, and performance of magnetic iron-carbon composite microparticles for chemotherapy 总被引:29,自引:0,他引:29
Magnetic microcarrier particles useful for delivering chemotherapeutic drug molecules are described. The particles are formed by joint deformation of iron and carbon in a ball mill. Physical, chemical, and functional characterization has been carried out on the particles. Physical characteristics include microscopy, particle size analysis (0.5-5 microm), surface area (250 m2/g), water vapor adsorption isotherm (hydrophobic surface), and analysis of the iron-carbon interface by M?ssbauer spectroscopy, X-ray diffraction, and differential thermal analysis. Chemical analysis was used to identify elements in the particles other than carbon and iron. Functional characteristics measured included the particles' ability to adsorb and desorb doxorubicin, cytotoxicity, and their magnetic susceptibility. 相似文献
97.
Marais DJ Rose RC Lane C Kay P Nevin J Denny L Soeters R Dehaeck CM Williamson AL 《Journal of medical virology》2000,60(4):403-410
The aim of the study was to determine the prevalence of antibodies to human papillomavirus (HPV) types 16, 18, 31, 33, and 45 in woman in Cape Town with cervical intraepithelial neoplasia (CIN) (n = 95), cervical cancer (n = 40), female blood donors (n = 95) and children (n = 110). The enzyme-linked immunosorbent assay (ELISA) made use of baculovirus synthesised HPV virus like particles (VLPs) as antigen. Antibodies to at least one HPV type were detected in sera from 75% of cancer patients, 71.6% of CIN patients, 44.2% of blood donors and 27.3% of children. Sera from 95 women with CIN were compared with age-matched female blood donors. There was a significant association of seropositivity to VLP-16 (P = 0.006) and VLP-45 (P = 0.008) with CIN compared with the blood donors. There was also a significant difference in the seropositivity of women with CIN to any of the five virus-like particle (VLP) types compared to the blood donors (P = 0.0002: OR = 3.2). Thirty-nine of sixty-nine (56.5%) women with CIN were found to be HPV-16 DNA positive. The average age of women in this group that were VLP-16 seropositive was 34 years and those found to be VLP-16 seronegative was 52 years of age. Antibodies to all five VLP types were detected in these populations, thus an ideal vaccine should induce protection from infection by a wide range of HPV types. 相似文献
98.
99.
Historically the strength of sealed brachytherapy sources has been described by many physical quantities, including true activity, apparent activity, and equivalent mass of radium. Recently, the AAPM Task Group 32 recommended that these quantities be replaced by a single quantity, air-kerma strength, with units of muGy m2h-1. A set of equations has been developed for unambiguously converting source strength estimates and renormalizing published dose-rate tables, which assume traditional quantities and units, into forms consistent with air-kerma strength. For commonly used brachytherapy sources, multiplicative conversion factors for each source-strength formalism and set of units are given. To convert equivalent mass of radium to air-kerma strength requires a single multiplicative factor, 7.23 muGy m2h-1/mgRaEq, applicable to all sources. Based upon a review of vendor source specification practices, the factors for converting source strength of 198Au, 103Pd, and 125I seeds from apparent mCi to air-kerma strength are 2.06, 1.29, and 1.27 muGy m2h-1/mCi(apparent), respectively. These factors are independent of source geometry but depend on the nominal exposure rate constant value selected by the vendor. Conversion factors applicable to mass of radium or true activity depend upon both source geometry and radionuclide identity. Because many of these conversion factors depend upon vendor choices of physical constants and exposure rate constants, readers are cautioned to carefully review vendor source strength specification practices before adopting these values clinically. Finally, the relationships between the various source strength quantities and absorbed dose rate in the medium surrounding the source are elucidated. 相似文献
100.