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11.
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis 总被引:7,自引:2,他引:7
Li DY; Toland AE; Boak BB; Atkinson DL; Ensing GJ; Morris CA; Keating MT 《Human molecular genetics》1997,6(7):1021-1028
Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular
disease that affects the aorta, carotid, coronary and pulmonary arteries.
Previous molecular genetic data have led to the hypothesis that SVAS
results from mutations in the elastin gene, ELN. In these studies, the
disease phenotype was linked to gross DNA rearrangements (35 and 85 kb
deletions and a translocation) in three SVAS families. However, gross
rearrangements of ELN have not been identified in most cases of autosomal
dominant SVAS. To define the spectrum of ELN mutations responsible for this
disorder, we refined the genomic structure of human ELN and used this
information in mutational analyses. ELN point mutations co-segregate with
the disease in four familial cases and are associated with SVAS in three
sporadic cases. Two of the mutations are nonsense, one is a single base
pair deletion and four are splice site mutations. In one sporadic case, the
mutation arose de novo. These data demonstrate that point mutations of ELN
cause autosomal dominant SVAS.
相似文献
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13.
Short-term therapy for recurrent abortion using intravenous immunoglobulins: results of a double-blind placebo-controlled Italian study 总被引:1,自引:3,他引:1
Perino A; Vassiliadis A; Vucetich A; Colacurci N; Menato G; Cignitti M; Semprini AE 《Human reproduction (Oxford, England)》1997,12(11):2388-2392
It is still unclear whether i.v. immunoglobulins (Ig) can facilitate the
reproductive prognosis of women who have suffered recurrent pregnancy loss.
We report the results of a multicentre placebo- controlled study on the
effect of Ig administration on pregnancy outcome in 46 women who had
suffered at least three recurrent miscarriages. All were screened to
exclude chromosomal or Mullerian abnormalities, the presence of antinuclear
antibodies, lupus anticoagulant (LA) or elevated titres of anticardiolipin
antibodies which may have revealed an underlying autoimmune problem. To
avoid a selection bias towards ongoing pregnancies, i.v. Ig or placebo were
administered between weeks 5 and 7 of gestation for 2 consecutive days as
soon as each woman knew she was pregnant and before embryonic heart
activity could be detected. A further infusion was administered at week 8
when ultrasonography confirmed an ongoing embryonic development. In all,
68% of the women who received Ig went to term versus 79% of those who
received a placebo (not significant), with no significant differences in
the pregnancy course or the perinatal outcome. These results suggest either
that women with recurrent miscarriages who have no recognized cause of
pregnancy loss have a good reproductive prognosis without any treatment or
that the emotional care associated with the administration of a placebo can
indirectly facilitate the progression of pregnancy.
相似文献
14.
The ileoanal J pouch: radiographic evaluation 总被引:1,自引:0,他引:1
Endorectal ileoanal pull-through offers an attractive alternative to proctocolectomy and ileostomy for patients with ulcerative colitis, Gardner syndrome, and familial polyposis. To our knowledge, a careful radiographic analysis of the ileum, ileal pouch, and ileoanal anastomosis after ileoanal pull-through has not been reported. Thirty-two patients with ulcerative colitis, Gardner syndrome, and familial polyposis underwent colectomy, mucosal proctectomy, and endorectal ileoanal pull-through of a 15-cm ileal "J" pouch and loop ileostomy. Twenty-five (78%) of 32 of all the pouches radiographically demonstrated spiral folds extending from the middle of the pouch to the pectinate line. Other radiographic features included a mesenteric mass effect, pseudopolyps, and a central lucency that indicated intrapouch sutures. Radiographs provide useful information in the postoperative management of the ileal pull-through. 相似文献
15.
G. Buunk J. G. van der Hoeven A. E. Meinders M. Frölich 《Intensive care medicine》1996,22(11):1191-1196
Objective To determine the role of cerebral vasoconstriction in the delayed hypoperfusion phase in comatose patients after cardiac arrest.Design Prospective study.Setting Medical intensive care unit in a university hospital.Patients 10 comatose patients (Glasgow Coma Score 6) successfully resuscitated from a cardiac arrest occurring outside the hospital.Measurements We measured the pulsatility index (PI) and mean blood flow velocity (MFV) of the middle cerebral artery, the cerebral oxygen extraction ratio and jugular bulb levels of endothelin, nitrate, and cGMP during the first 24 h after cardiac arrest.Results The PI decreased significantly from 1.86±1.02 to 1.05±0.22 (p=0.03). The MFV increased significantly from 29±10 to 62±25 cm/s (p=0.003). Cerebral oxygen extraction ratio decreased also from 0.39±0.13 to 0.24±0.11 (p=0.015). Endothelin levels were high but did not change during the study period. Nitrate levels varied widely and showed a slight but significant decrease from 37.1 mol/l (median; 25th–75th percentiles: 26.8–61.6) to 31.3 mol/l (22.1–39.6) (p=0.04). Cyclic guanosine monophosphate levels increased significantly from 2.95 nmol/l (median; 25th–75th percentiles: 2.48–5.43) to 7.5 nmol/l (6.2–14.0) (p=0.02).Conclusions We found evidence of increased cerebrovascular resistance during the first 24 h after cardiac arrest with persistent high endothelin levels, gradually decreasing nitrate levels, and gradually increasing cGMP levels. This suggests that active cerebral vasoconstriction due to an imbalance between local vasodilators and vasoconstrictors plays a role in the delayed hypoperfusion phase. 相似文献
16.
Black tea and mammary gland carcinogenesis by 7,12- dimethylbenz[a]anthracene in rats fed control or high fat diets 总被引:3,自引:1,他引:3
Epidemiological studies suggest that tea may reduce cancer risk, and in
laboratory rodents, chemopreventive effects of tea or purified extracts of
tea have been demonstrated in lung, gastrointestinal tract and skin. There
is some evidence of chemoprevention by tea in the mammary gland, but the
data are not conclusive. In order to evaluate more fully the possible
influence of black tea on 7,12-dimethylbenz[a]anthracene (DMBA)-induced
mammary gland tumors in the female S-D (Sprague-Dawley) rat, three large
studies were performed: experiment 1, tumorigenesis in rats fed AIN-76A
diet and given 25 mg/kg DMBA and 1.25 or 2.5% whole tea extract or water to
drink; experiment 2, tumorigenesis in rats given 15 mg/kg DMBA and the same
diet and fluids as in experiment 1; experiment 3, tumorigenesis in rats fed
control or HF (high fat, corn oil) diet and given 15 mg/kg DMBA and 2% tea
or water to drink. Tea was given throughout the experiment; DMBA was given
by gastric gavage at 8 weeks of age. There was no consistent effect of tea
on tumorigenesis in rats fed AIN-76A diet; there was, however, evidence in
experiment 3 of a reduction of tumorigenesis by tea in rats fed the HF
diet. In experiment 3, rats fed the HF diet and given water showed the
expected increase in tumor burden (number and weight) compared with rats
fed control diet. However, rats fed the HF diet and given 2% tea showed no
increase in tumor burden; their tumor burden was significantly lower than
in rats fed the HF diet and given water (P < 0.01) and was not different
from rats fed control diet and given water or tea. In addition, in
experiment 3, the number of malignant tumors per tumor- bearing rat was
increased by the HF diet in water-drinking rats (P < 0.01) but not in
tea-drinking rats. Therefore, it appears that tea partially blocked the
promotion of DMBA-induced mammary tumorigenesis by the HF diet.
相似文献
17.
Al-Bahry SN Al-Mashani BM Al-Ansari AS Elshafie AE Mahmoud IY 《Asian Pacific journal of tropical medicine》2013,6(9):718-722
ObjectiveTo screen for Escherichia coli (E. coli) resistant to tetracycline, followed by identification of tet efflux genes by polymerase chain reaction (PCR). In addition, detection of tetracycline residues in chicken livers and kidneys were conducted using high performance liquid chromatography-tandem quadrupole mass spectrometry (HPLC-MS-MS).MethodsStrains of E. coli were isolated from samples of chicken colon and screened for tetracycline resistance. Tetracycline genes conferring resistance (Tcr) were detected by polymerase chain reaction (PCR). Most of the isolates were resistant to tetracycline (97.9%).ResultsPCR analysis indicated that Tcr E. coli R-plasmids contained tet(A), tet(B) and a combination of both efflux genes. None of the isolates contained other efflux tet genes tet (C, D, E and Y). High performance liquid chromatography-tandem quadrupole mass spectrometry (HPLC-MS-MS), a sensitive technique, was used to detect residues of chlortetracycline (CTC), oxytetracycline (OTC), doxycycline (DC) in chicken livers and kidneys. The samples containing tetracycline residues were at 0.13-0.65 pg/μL levels.ConclusionsTetracycline and other antibiotics are commonly used in the poultry and meat production industry for prevention of microbial infections. Multiple antibiotic resistant bacteria in Oman have increased to alarming levels, threatening public health, domestic and may have adverse effect on environment. 相似文献
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20.
AF Jorm H Christensen AS Henderson PA Jacomb AE Korten A Mackinnon 《Age and ageing》1996,25(2):126-129
Formal assessment of cognitive decline with cognitive tests can be difficult, requiring either two measurement points or a comparison of 'hold' with 'don't hold' tests. Informant-based assessment provides an alternative approach because informants can adopt a longitudinal perspective and directly rate cognitive change. A study was carried out to assess the validity of informant ratings collected by means of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). A community sample of 500 subjects aged 74 or over underwent four cognitive tests on two occasions 3½ years apart. On the second occasion, informants filled out the IQCODE. Subjects rated as having moderate or severe decline were found to have greater change on the cognitive tests. These findings support the validity of informant ratings of cognitive decline. 相似文献