View clinical trials related to Disease Susceptibility.
Filter by:Invasive bacterial infection is a dangerous but relatively uncommon disease where bacteria spread deep into the body causing diseases like blood poisoning ('bacteraemia'), pneumonia, meningitis and others. The various bacteria of the streptococcus family are an important cause, often leading patients to require intensive care despite which, for some strains, one in five patients die. One notable form is called necrotising fasciitis, a condition where bacteria rapidly spreads through and destroys the layers of tissue just under the skin. As individuals vary greatly in their risk of developing such serious infections, investigating how the genome, the inherited blueprint of our bodies, of these patients differs from that of healthy volunteers can help to explain why the disease develops in some and not others. For some streptococcal bacteria such as Streptococcus pneumoniae this approach is already proving successful; for others such as the "Group A" strain (Streptococcus pyogenes) it has yet to be explored but carries excellent potential. The investigators have secured the support of the Lee Spark Necrotising Fasciitis Foundation to recruit from their membership survivors of streptococcal infections and some of their family members. The investigators will also ask infection specialists from NHS hospitals to invite patients they have looked after. The investigators also have a small existing collection. Taking part would involve registering information on a website, discussing the study on the telephone and then providing us with a sample of saliva from which the investigators can isolate DNA. The investigators would prepare the sample for analysis of the genome and compare the patients with both their family and an existing reference collection from healthy volunteers using technology that reads the DNA code. Our study will be a first key step in renewing efforts to understand the determinants of invasive streptococcal infection, which is important for developing better treatments and vaccines.
Susceptibility to breast cancer is related to the combination of genetic, hormonal and multiple other environmental risk factors, such as mutations in the BRCA gene and excess exposure to exogenous estrogen, respectively. BRCA is a nuclear protein that maintains genome stability, by acting as a key player in the DNA repair complex. Recently, evidence has emerged that BRCA mutation heterozygosis itself enhances aborted DNA repair and can contribute to breast cancer initiation after exposure to irradiation. In our preliminary results on short-term lymphocyte cultures, we found additional evidence that healthy heterozygous BRCA1 and BRCA2 mutation carriers have a different response to DNA damage than do non-carriers. The main aim of our ongoing project is to identify the transcriptional modulation and transformation potential of normal BRCA1 and BRCA2 mutation heterozygous epithelial breast cells following irradiation and to examine how it is affected by exposure to estrogen. Our hypotheses will be investigated by RNA-seq and microRNA-seq in order to identify a unique molecular expression profile of the estrogen exposed cells following ionizing irradiation. Understanding the role of BRCA heterozygosity in cell response to exposure to estrogen and to irradiation may facilitate the development of more appropriate diagnostic and therapeutic strategies for these individuals.
The portion size of foods has been identified as an important determinant of energy intake in children. It remains to be determined to what extent child weight status and the relative reinforcing value of food may interact with the obesogenic food environment to affect energy intake. The primary aim of this study was to compare energy intake at a meal in normal-weight and obese children when the portion size of palatable, energy-dense foods and a sugar-sweetened beverage was systematically increased. We hypothesized that increasing the portion size of all foods and the beverage at a meal will lead to a significant increase in energy intake in both normal-weight and obese children. Obese children, however, will show a significantly greater increase in energy intake than will normal-weight children. A second aim of this study was to test if children's response to increases in portion size was affected by how reinforcing they find food to be. We hypothesized that, when controlling for BMI, children who find food very reinforcing relative to nonfood alternatives will show a significantly greater increase in energy intake than will children who find food less reinforcing.
Ovarian steroids, as well as their synthetic counterparts gestagens and estrogens have a role in breast cell proliferation and the development of breast cancer. Here, the effect of a progesterone receptor modulator, mifepristone, on cell proliferation in human breast tissue in vivo will be studied in women with BRCA-1 or -2 mutations. Our preliminary results implicate a possible protective effect of mifepristone in breast epithelium. The ability of mifepristone to block breast epithelial cell proliferation may prevent tumorigenesis and may also prove beneficial when used for contraceptive purposes and on other indications. The proposed project concerns a Randomized Controlled Trial on mifepristone versus placebo treatment of women with BRCA-1or -2 mutations with a high risk/incidence of breast cancer and ovarian cancer.
Would rapid identification of bacteria and rapid detection of methicillin-resistant S. aureus (MRSA) and vancomycin-resistant enterococci (VRE) (using an FDA-cleared assay) in positive blood culture bottles improve patient care at Mayo Clinic Rochester (or just lead to increased cost)?
This is a study of drug effectiveness for 2 treatments of vivax malaria, which is one of the two main types of malaria in Viet Nam. There are two important drugs used in Viet Nam for treating vivax malaria, Chloroquine and Artemisinin. Sometimes, when medicines are used for many years they become less effective at treating a disease, especially when they are not used at adequate doses according to national guidelines or when counterfeit drugs are available in the market. The purpose of this study is to check that Chloroquine and Artemisinin, are still effective for patients in Viet Nam. Participants in this study will be treated with either Dihydroartemisinin-Piperaquine (DHA-PPQ) or Chloroquine (CQ) for 3 days. Both drugs are recommended by the national guidelines to treat vivax malaria. The investigators would like to know if both of these treatments are equally effective so half of the patients in the study will be treated with DHA-PPQ and the other half will be treated with CQ. This way the investigators can compare the drugs to find out if one is better than the other. Participants will be followed for 3 days in hospital, then regularly by follow-up visits until the 63rd day. Tests will be done to determine the amount of drug and malaria parasites in the participant's body and how the blood cells react to the malaria. The parasite will be tested to determine what type it is and how it reacts to the treatment. The results of the study will be used to inform malaria treatment guidelines in Viet Nam.
The purpose of this study is to examine whether the use of genetic test information and/or health coaching in patient risk counseling for heart disease and diabetes affect health behaviors and health outcomes in active-duty Air Force (ADAF), beneficiaries or dependents and Air Force retiree patients. Total of 400 subjects will be enrolled. They will be randomly(like flipping a coin)assigned to 4 groups: 1)Standard risk assessment (SRA)only; 2)SRA plus genetic risk information (SRA+G); 3)SRA plus health coaching (SRA+HC); or 4)SRA, genetic risk information, and health coaching (SRA+G+HC). Subjects randomized to the two genetic arms will have blood collected for testing of investigational coronary heart disease (CHD) and type 2 diabetes (T2D) risk markers. Participants in the two groups that include health coaching will be assigned to a trained certified health coach for a period of 6 months. The duration of the study is 12 months with 3 in person visits (baseline, 6 months and 12 months) and completion of surveys at 6 weeks and 3 month time points.
The objective is to explore the genetic predisposition to early pelvic organ prolapse after adequate surgical repair by exploring the association between pelvic organ prolapse recurrences and certain polymorphisms.
Not many studies examined genetic determinants of obesity in women. As pre-menopausal and post-menopausal women appear to have different propensities for fat deposition, genetic loci linked with obesity-related phenotypes might be different by menopausal status. So far, there is no large scale of genetic study deciphering common obesity focusing on women population to examine the contributions of aging and change in menopausal status to obesity in Taiwan. The investigators propose this study to compare phenotypic profiles of obesity and cardio-metabolic factors in pre-menopausal and post-menopausal women. The study will examine the contributions of aging and change in menopausal status to the changes of obesity-related traits during the transition from pre-menopause to post-menopause period, and will evaluate the contribution of genetic susceptibility on body fat deposition among women at different stage of menopause.
Due to the high rate of resistance to clarithromycin in our area the investigators proposed an study to assess the need of antibiogram previous to the empirical OCA 10 treatment, in order to improve the rate of eradication.