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11.
Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in men. 总被引:4,自引:0,他引:4
G Benze J Heinrich H Schulte S Rust U Nowak-G?ttl M-C Tataru E K?hler G Assmann R Junker 《European heart journal》2002,23(4):325-330
Aims Recent studies have reported an association between the platelet glycoprotein (GP) Ia C807T polymorphism and myocardial infarction, whereas other studies have reported contradictory results concerning the platelet GPIIIa PlA1/A2 polymorphism. In most of these studies the patients were older than 45 years. Thus we decided to examine both genotypes in 287 men who had their first myocardial infarction before age 45, and a group of 138 healthy controls.Methods and Results The frequency of T807 allele carriers was similar among myocardial infarction patients and among controls (54.6% vs 62.3%; odds ratio (OR) 0.73; 95% confidence interval (CI), 0.47-1.12). The frequency of PlA2 carriers was higher in cases than in controls (26.5% vs 15.2%; OR 1.65; CI, 1.09-2.54). After performing a logistic regression analysis, taking into account other cardiovascular risk factors, this difference did not remain significant. The combination of the risk alleles of both genotypes had no major effect on the myocardial infarction risk.Conclusions The GPIIIa PlA2 allele is not independently associated with the risk of premature myocardial infarction. The T807 allele of the GPIa gene alone or in combination with the PlA2 allele had no major effect on premature myocardial infarction risk. 相似文献
12.
Brun JF Bordenave S Mercier J Jaussent A Picot MC Préfaut C 《Diabetes & metabolism》2008,34(3):258-265
OBJECTIVE: We evaluated the effects of targeted, moderate endurance training on healthcare cost, body composition and fitness in type 2 diabetes patients routinely followed within the French healthcare system. DESIGN AND METHODS: A total of 25 type 2 diabetic patients was randomly assigned to one of two groups: 13 underwent a training programme (eight sessions, followed by training twice a week for 30-45 minutes at home at the level of the ventilatory threshold [V(T)]); and 12 received their usual routine treatment. Both groups were followed for one year to evaluate healthcare costs, exercise effectiveness and a six-minute walking test. RESULTS: The training prevented loss of maximum aerobic capacity, which decreased slightly in the untrained group (P=0.014), and resulted in a higher maximum power output (P=0.041) and six-minute walking distance (P=0.020). The Voorrips activity score correlated with both V(O2max) (r=0.422, P<0.05) and six-minute walking distance (r=0.446, P<0.05). Changes in V(O2max) were negatively correlated with changes in body weight (r=0.608, P<0.01). Training decreased the insulin-resistance index (HOMA-IR) by 26% (P<0.05). Changes in percentages of fat were correlated to changes in waist circumference (r=0.436, P<0.05). The total healthcare cost was reduced by 50% in the trained group (euro 1.65+/-1 per day versus euro 3.00+/-1.47 per day in the untrained group; P<0.02) due to fewer hospitalizations (P=0.05) and less use of sulphonylureas (P<0.05). CONCLUSION: Endurance training at V(T) level prevented the decline in aerobic working capacity seen in untrained diabetics over the study period, and resulted in a marked reduction in healthcare costs due to less treatments and fewer hospitalizations. 相似文献
13.
14.
FORKMAN, B., A., BOISSY, M.-C., SALAÜN, E., CANALI, AND R.B., JONES. A critical review of fear tests used on cattle, pigs, sheep, poultry and horses. PHYSIOL. BEHAV. 000-000, 2007.Fear is arguably the most commonly investigated emotion in domestic animals. In the current review we attempt to establish the level of repeatability and validity found for fear tests used on cattle, pigs, sheep and goats, poultry and horses. We focus the review on the three most common types of fear tests: the arena test (open field), the novel object test, and the restraint test. For some tests, e.g. tonic immobility in poultry, there is a good and broad literature on factors that affect the outcome of the test, the validity of the test and its age dependency. However, there are comparatively few of these well defined and validated tests and what is especially missing for most tests is information on the robustness, i.e., what aspects can be changed without affecting the validity of the tests. The relative absence of standardized tests hampers the development of applied ethology as a science. 相似文献
15.
Intravascular Clotting After Endotoxin in Rabbits With Impaired Intrinsic Clotting Produced by a Factor VIII Antibody 总被引:3,自引:0,他引:3
A rabbit model in which intrinsic clottingwas selectively impaired by injection of ahuman factor VIII antibody was used toevaluate the mechanism of endotoxin-induced intravascular clotting in cortisone-treated rabbits. Three groups of animalswere studied: a control group given factorVIII antibody followed by saline; a secondcontrol group given an inert material followed by endotoxin; and an experimentalgroup given factor VIII antibody followedby endotoxin. The following parameterswere measured: 125I-fibrinogen kinetics,fibrinogen levels, factor VIII, factor VII,factor V, WBC, platelets, and hematocrit.The kidneys were examined for depositionof fibrin. Mean values for factor VIII at thetime of injection of the second test materialand mean values for fibrinogen consumedin the 6 hr after the second injection wereas follows: antibody-saline group, 8.5% and11.0 mg/kg; control material-endotoxingroup, 90% and 29.6 mg/kg; and antibodyendotoxin group, 7.0% and 32.7 mg/kg.Factor V, factor VII, granulocytes, andplatelets fell in both groups of animalsgiven endotoxin. One animal in each groupgiven endotoxin developed gross renalcortical necrosis. These data establish thatselective impairment of the intrinsic clotting reactions does not reduce the amountof clotting induced by a single injection ofendotoxin in the cortisone-treated rabbit. Submitted on December 12, 1972 Revised on March 23, 1973 Accepted on April 10, 1973 相似文献
16.
Rozenberg P Bussières L Chevret S Bernard JP Malagrida L Cuckle H Chabry C Durand-Zaleski I Bidat L Lacroix I Moulis M Roger M Jacquemot MC Bault JP Boukobza P Boccara P Vialat F Giudicelli Y Ville Y 《Gynécologie, obstétrique & fertilité》2007,35(4):303-311
BACKGROUND: Recent studies have reported the efficacy of first trimester combined screening for Down Syndrome based on maternal age, serum markers (human chorionic gonadotropin, pregnancy-associated plasma protein A), and ultrasound measurement of fetal nuchal translucency. However, those do not incorporate the value of the widely accepted routine 20-22 week anomaly scan. STUDY DESIGN: We carried out a multi-centre, interventional study in the unselected population of a single health authority in order to assess the performance of first trimester combined screening, followed by routine second trimester ultrasound examination and/or screening by maternal serum markers (free beta-hCG and alpha-fetoprotein measurement or total hCG, alpha-fetoprotein and unconjugated estriol measurement) when incidentally performed. Detection and screen positive rates were estimated using a correction method for non verified issues. A cost analysis was also performed. RESULTS: During the study period, 14,934 women were included. Fifty-one cases of Down Syndrome were observed, giving a prevalence of 3.4 per 1000 pregnancies. Of these, 46 were diagnosed through first (N=41) or second (N=5) trimester screening. Among the 5 screen-negative Down syndrome cases, all were diagnosed postnatally after an uneventful pregnancy. Detection and screen positive rates of first trimester combined screening were 79.6% and 2.7%, respectively. These features reached 89.7 and 4.2%, respectively when combined with second trimester ultrasound screening. The average cost of the full screening procedure was 108 euro (120 $) per woman and the cost per diagnosed Down syndrome pregnancy was 7,118 euro (7,909 $). CONCLUSION: Our findings suggest that one pragmatic interventional two-step approach using first-trimester combined screening followed by second trimester detailed ultrasound examination is a suitable and acceptable option for Down syndrome screening in pregnancy. 相似文献
17.
Interactions between pregnancy and breast cancer are complex and paradoxical. Epidemiological data show that nulliparity and late full-term pregnancy increase breast cancer risk. By contrast, early full-term pregnancy and multiparity are thought to be the most effective means of decreasing lifetime breast cancer risk. Paradoxically, young women diagnosed with breast cancer during pregnancy have a higher risk of dying from their disease. Moreover, there is a transient increase in risk of breast cancer in the first three to four years after pregnancy. After breast cancer treatment, there is no evidence that pregnancy increases the risk of breast cancer recurrence. Thus, it is not contraindicated in women previously treated for breast cancer and free of recurrence. Various physio-pathological mechanisms are involved in the protective effect of pregnancy, like cellular differentiation of mammary cells, mammary gland involution, circulating anti-mucin antibody and excretion in the milk of breast carcinogens. In the past, unfavorable effects of pregnancy were mainly attributed to precancerous cell proliferation induced by pregnancy-associated hormonal changes. However, recent studies suggest that the remodeling of cellular microenvironment and extracellular matrix during pregnancy and involution may contribute to enhanced invasive and metastatic potential of breast carcinomas. 相似文献
18.
Jacquemont ML Sanlaville D Redon R Raoul O Cormier-Daire V Lyonnet S Amiel J Le Merrer M Heron D de Blois MC Prieur M Vekemans M Carter NP Munnich A Colleaux L Philippe A 《Journal of medical genetics》2006,43(11):843-849
Background
Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11–q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling.Methods and results
29 patients presenting with syndromic ASD were investigated using a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Eight clinically relevant rearrangements were identified in 8 (27.5%) patients: six deletions and two duplications. Altered segments ranged in size from 1.4 to 16 Mb (2–19 clones). No recurrent abnormality was identified.Conclusion
These results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD. Moreover, besides their importance for diagnosis and genetic counselling, they may allow the delineation of new contiguous gene syndromes associated with ASD. Finally, the detailed molecular analysis of the rearranged regions may pave the way for the identification of new ASD genes.Autism spectrum disorders (ASD) belong to the group of pervasive developmental disorders (PDD). According to the Diagnostic statistical manual for mental disorders—fourth edition (DSM IV) classification,1 ASD are characterised by impairments in communication, social skills and restricted or stereotyped pattern of behaviours and interests. A diagnosis within the autism spectrum requires one or more symptoms in each of the three areas of impairment. The prevalence of ASD is estimated at about 1/1000 to 3/1000.2,3 ASD are heterogeneous conditions which can be either isolated or syndromic—that is, associated with other clinical features such as facial dysmorphism, limb or visceral malformations, and growth abnormalities.A total of 10–20% of ASD cases are due to known medical conditions involving chromosomal imbalances, genetic disorders (X fragile syndrome and tuberous sclerosis)4 or environmental factors (valproate5 and rubella). The other cases remain unexplained. Twin and familial studies have documented a higher concordance rate in monozygotic twins (90%) than in dizygotic twins (4.5%),6,7,8 and a 75‐fold greater risk to siblings in idiopathic patients than in the general population.9,10 Collectively, these studies support the involvement of numerous genes in autistic disorders.About 1.7–4.8% of people with ASD have chromosome abnormalities. Almost all chromosomes have been involved, including unbalanced translocations, inversions, rings, and interstitial or terminal deletions and duplications.11,12,13,14 The rare chromosome abnormalities that have been reported on more than one occasion are duplication of 15q,15 deletions of 18q,16,17 Xp,18,19 2q37,20 22q1321,22 and the sex chromosome aneuploidies 47,XYY23,24 and 45,X/46,XY.25,26 This diversity of loci suggests that studying chromosomal aberrations in relationship to autism will require efficient and highly sensitive tools. In addition to the importance for diagnosis, identification of chromosomal imbalances in patients with ASD may also be instrumental for cloning disease‐causing genes. Analysis of Xp22.3 deletion has indeed allowed the identification of the NLGN4 gene.27Recent technological developments, such as array‐based comparative genomic hybridisation (array‐CGH),28,29,30 allow the investigation of the human genome at a resolution that is 5–10 times higher than that of routine chromosome analysis by karyotyping.29,31,32,33 Array‐CGH has been used successfully for analysis of tumour samples and cell lines, and for high‐resolution analysis of patients with mental retardation and congenital anomalies.34,35,36,37,38Here, we report the application of genomewide array‐CGH, at 1 Mb resolution, to the study of 29 patients with syndromic ASD. In addition to their clinical relevance, our results emphasise the importance of chromosomal imbalance in the aetiology of syndromic ASD and may help the identification of new genes involved in autistic disorders. 相似文献19.
Lacreusette A Lartigue A Nguyen JM Barbieux I Pandolfino MC Paris F Khammari A Dréno B Jacques Y Blanchard F Godard A 《The Journal of pathology》2008,216(4):451-459
Immunotherapy by adoptive transfer of autologous tumour-infiltrating lymphocytes (TIL) shows promising clinical results for stage III (lymph nodes metastasis) melanoma patients, but some of them remain unresponsive. Here we analysed retrospectively the impact of resistance of melanoma cells to anti-proliferative cytokines on the clinical outcome of 24 TIL-treated metastatic melanoma patients. Patient relapse-free survival correlated significantly with Oncostatin M (OSM) and/or IL-6 sensitivity of melanoma cells, but not with interferon (IFN) gamma or tumour necrosis factor (TNF) alpha sensitivity. However, OSM/IL-6 sensitivity did not correlate with other known prognostic factors. Moreover, OSM and IL-6 were produced by TIL just before their injection to patients. In immunodeficient mice, OSM reduced human melanoma xenograft tumour growth, this effect being directly through inhibition of tumour cell proliferation rather than induction of apoptosis or necrosis. Thus, OSM/IL-6 resistance of melanoma cells appears to be a new escape mechanism to TIL treatment that could be added to the existing prognostic factors for early stage melanoma patients. This mechanism of action could be also relevant in other immunotherapy protocols, and could lead to better prognosis and anti-cancer treatments. 相似文献
20.