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排序方式: 共有78条查询结果,搜索用时 15 毫秒
11.
I Ben Charfeddine FG Riepe E Clauser A Ayedi S Makni MT Sfar H Sboui N Kahloul H Ben Hamouda S Chouchane S Trimech N Zouari S M'rabet F Amri A Saad PM Holterhus M Gribaa 《Gene》2012,507(1):20-26
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. In this study, the CYP21A2 gene was genotyped in 50 patients in Tunisia with the clinical diagnosis of 21-hydroxylase deficiency. CYP21A2 mutations were identified in 87% of the alleles. The most common point mutation in our population was the pseudogene specific variant p.Q318X (26%). Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population. The overall concordance between genotype and phenotype was 98%. With this study the molecular basis of CAH has been characterized, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling. 相似文献
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Alternaria alternata is a common fungal parasite on fruits and other plants and produces a number of mycotoxins, including alternariol (3,7,9-trihydroxy-1-methyl-6H-dibenzo [b,d]pyran-6-one), alternariol monomethyl ether (3,7-dihydroxy-9-methoxy-1-methyl-6H-dibenzo[b,d]pyran-6-one), and the mutagen altertoxin I {[1S-(1α,12aβ,12bα)] 1,2,11,12,12a, 12b-hexahydro-1,4,9,12a-tetrahydroxy-3,10-perylenedione}.
Alternariol and alternariol monomethyl ether have previously been detected in some samples of fruit beverages. Stability studies
of these toxins as well as altertoxin I added to fruit juices and wine (10–100 ng/mL) were carried out. To include altertoxin
I in the analysis, cleanup with a polymer-based Varian Abselut solid phase extraction column was used, as recoveries from
C-18 columns were low. The stabilities of alternariol and alternariol monomethyl ether in a low acid apple juice containing
no declared vitamin C were compared with those in the same juice containing added vitamin C (60 mg/175 ml); there were no
apparent losses at room temperature over 20 days or at 80°C after 20 min. in either juice. Altertoxin I was moderately stable
in pH 3 buffer (75% remaining after a two week period). Furthermore, altertoxin I was stable or moderately stable in three
brands of apple juice tested over 1–27 day periods and in a sample of red grape juice over 7 days. It is concluded that altertoxin
I is sufficiently stable to be found in fruit juices and should be included in methods for alternariol and alternariol monomethyl
ether. 相似文献
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A Maarten J Kootstra Hendrik H Beeftink Elinor L Scott Johan PM Sanders 《Biotechnology for biofuels》2009,2(1):31-14
Background
In this study, the dilute maleic acid pretreatment of wheat straw is optimized, using pretreatment time, temperature and maleic acid concentration as design variables. A central composite design was applied to the experimental set up. The response factors used in this study are: (1) glucose benefits from improved enzymatic digestibility of wheat straw solids; (2) xylose benefits from the solubilization of xylan to the liquid phase during the pretreatment; (3) maleic acid replenishment costs; (4) neutralization costs of pretreated material; (5) costs due to furfural production; and (6) heating costs of the input materials. For each response factor, experimental data were fitted mathematically. After data translation to €/Mg dry straw, determining the relative contribution of each response factor, an economic optimization was calculated within the limits of the design variables. 相似文献16.
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BACKGROUND: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. METHODS: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial management and sex assignment. RESULTS: We identified 80 cases within a 2-year study period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year in Germany. Prevalence was higher in infants from non-German family background. In more than 50% of all infants a definite diagnosis was lacking even at the age of 6 months. In those cases where the etiology was confirmed, the most common diagnosis was congenital adrenal hyperplasia, followed by androgen insensitivity syndrome and mixed gonadal dysgenesis. Associated malformations were very common, affecting 37.5% of all infants. Sex assignment was female in 46,XY infants with predominately female phenotype and all 46,XX infants. Early surgery was performed in many cases irrespective whether a definite diagnosis had been established or not. Integrated psychosocial care was the exception rather than the rule. CONCLUSIONS: Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders. 相似文献
19.
Introduction
There is an ever-increasing need for animal models to evaluate efficacy and safety of new therapeutics in the field of rheumatoid arthritis (RA). Particularly for the early preclinical evaluation of human-specific biologicals targeting the progressive phase of the disease, there is a need for relevant animal models. In response to this requirement we set out to develop a model of collagen-induced arthritis (CIA) in a small-sized nonhuman primate species (300 to 400 g at adult age); that is, the common marmoset (Callithrix jacchus). 相似文献20.
Over 3500 patients with recent onset inflammatory polyarthritis (IP) have been recruited by the Norfolk Arthritis Register
(NOAR) since 1990. Longitudinal data from this cohort have been used to examine the prevalence and predictors of remission,
functional disability, radiological outcome, cardiovascular mortality and co-morbidity and the development of non-Hodgkin's
lymphoma. Rheumatoid factor titre, high baseline C-reactive protein and high baseline HAQ score are all predictors of a poor
outcome. There is a strong association between possession of the shared epitope and the development of erosions. Patients
who satisfy the American College of Rheumatology criteria for rheumatoid arthritis (RA) have a worse prognosis than those
who do not. However, it appears that these patients are a poorly defined subset of all those with IP rather than having an
entirely separate disease entity. New statistical techniques offer exciting possibilities for using longitudinal datasets
such as NOAR to explore the long-term effects of treatment in IP and RA. 相似文献