208 resultados para HEREDITARY DISEASES


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BACKGROUND AND AIMS: Internet-based surveys provide a potentially important tool for Inflammatory Bowel Disease (IBD) research. The advantages include low cost, large numbers of participants, rapid study completion and less extensive infrastructure than traditional methods. The aim was to determine the accuracy of patient self-reporting in internet-based IBD research and identify predictors of greater reliability. METHODS: 197 patients from a tertiary care center answered an online survey concerning personal medical history and an evaluation of disease specific knowledge. Self-reported medical details were compared with data abstracted from medical records. Agreement was assessed by kappa (κ) statistics. RESULTS: Participants responded correctly with excellent agreement (κ=0.96-0.97) on subtype of IBD and history of surgery. The agreement was also excellent for colectomy (κ=0.88) and small bowel resection (κ=0.91), moderate for abscesses and fistulas (κ=0.60 and 0.63), but poor regarding partial colectomy (κ=0.39). Time since last colonoscopy was self-reported with better agreement (κ=0.84) than disease activity. For disease location/extent, moderate agreements at κ=69% and 64% were observed for patients with Crohn's disease and ulcerative colitis, respectively. Subjects who scored higher than the average in the IBD knowledge assessment were significantly more accurate about disease location than their complementary group (74% vs. 59%, p=0.02). CONCLUSION: This study demonstrates that IBD patients accurately report their medical history regarding type of disease and surgical procedures. More detailed medical information is less reliably reported. Disease knowledge assessment may help in identifying the most accurate individuals and could therefore serve as validity criteria. Internet-based surveys are feasible with high reliability about basic disease features only. However, the participants in this study were engaged at a tertiary center, which potentially leads to a bias and compromises generalization to an unfiltered patient group.

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A complex interaction among metabolic factors, adipose tissue lipolysis, oxidative stress, and insulin resistance results in a deleterious process that may link nonalcoholic fatty liver disease (NAFLD) with severe cardiovascular (CV) outcomes. Patients with NAFLD are at higher risk of atherosclerosis, new onset of CV events, and overall mortality. The strong association between NAFLD and CV disease should affect clinical practice, with screening and surveillance of patients with NAFLD. This review discusses the data linking these major diseases.

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Magnetic resonance spectroscopy (MRS) and spectroscopic imaging (MRSI) provide metabolic information on the musculoskeletal system, thus helping to understand the biochemical and pathophysiological nature of numerous diseases. In particular, MRS has been used to study the energy metabolism of muscular tissue since the very beginning of magnetic resonance examinations in humans when small-bore magnets for studies of the limbs became available. Even more than in other organs, the observation of non-proton-nuclei was important in muscle tissue. Spatial localization was less demanding in these studies, however, high temporal resolution was necessary to follow metabolism during exercise and recovery. The observation of high-energy phosphates during and after the application of workload gives insight into oxidative phosphorylation, a process that takes place in the mitochondria and characterizes impaired mitochondrial function. New applications in insulin-resistant patients followed the development of volume-selective 1H-MRS in whole-body magnets. Nowadays, multinuclear MRS and MRSI of the musculoskeletal system provide several windows to vital biochemical pathways noninvasively. It is shown how MRS and MRSI have been used in numerous diseases to characterize an involvement of the muscular metabolism.

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(Full text is available at http://www.manu.edu.mk/prilozi). New generation genomic platforms enable us to decipher the complex genetic basis of complex diseases and Balkan Endemic Nephropathy (BEN) at a high-throughput basis. They give valuable information about predisposing Single Nucleotide Polymorphisms (SNPs), Copy Number Variations (CNVs) or Loss of Heterozygosity (LOH) (using SNP-array) and about disease-causing mutations along the whole sequence of candidate-genes (using Next Generation Sequencing). This information could be used for screening of individuals in risk families and moving the main medicine stream to the prevention. They also might have an impact on more effective treatment. Here we discuss these genomic platforms and report some applications of SNP-array technology in a case with familial nephrotic syndrome. Key words: complex diseases, genome wide association studies, SNP, genomic arrays, next generation sequ-encing.

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Genetic predispositions for guttural pouch tympany, recurrent laryngeal neuropathy and recurrent airway obstruction (RAO) are well documented. There is also evidence that exercise-induced pulmonary haemorrhage and infectious diseases of the respiratory tract in horses have a genetic component. The clinical expression of equine respiratory diseases with a genetic basis results from complex interactions between the environment and the genetic make-up of each individual horse. The genetic effects are likely to be due to variations in several genes, i.e. they are polygenic. It is therefore unlikely that single gene tests will be diagnostically useful in these disorders. Genetic profiling panels, combining several genetic factors with an assessment of environmental risk factors, may have greater value, but much work is still needed to uncover diagnostically useful genetic markers or even causative variants for equine respiratory diseases. Nonetheless, chromosomal regions associated with guttural pouch tympany, recurrent laryngeal neuropathy and RAO have been identified. The association of RAO with other hypersensitivities and with resistance to intestinal parasites requires further study. This review aims to provide an overview of the available data and current thoughts on the genetics of equine airway diseases.

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BACKGROUND: Due to climate changes during the last decades, ticks have progressively spread into higher latitudes in northern Europe. Although some tick borne diseases are known to be endemic in Finland, to date there is limited information with regard to the prevalence of these infections in companion animals. We determined the antibody and DNA prevalence of the following organisms in randomly selected client-owned and clinically healthy hunting dogs living in Finland: Ehrlichia canis (Ec), Anaplasma phagocytophilum (Ap), Borrelia burgdorferi (Bb) and Bartonella. METHODS: Anti-Ap, -Bb and -Ec antibodies were determined in 340 Finnish pet dogs and 50 healthy hunting dogs using the 4DX Snap(R)Test (IDEXX Laboratories). In addition, PCRs for the detection of Ap and Bartonella DNA were performed. Univariate and multivariate logistic regression analyses were used to identify risk factors associated with seropositivity to a vector borne agent. RESULTS: The overall seroprevalence was highest for Ap (5.3%), followed by Bb (2.9%), and Ec (0.3%). Seropositivities to Ap and Bb were significantly higher in the Aland Islands (p <0.001), with prevalence of Ap and Bb antibodies of 45 and 20%, respectively. In healthy hunting dogs, seropositivity rates of 4% (2/50) and 2% (1/50) were recorded for Ap and Bb, respectively. One client-owned dog and one hunting dog, both healthy, were infected with Ap as determined by PCR, while being seronegative. For Bartonella spp., none of the dogs tested was positive by PCR. CONCLUSIONS: This study represents the first data of seroprevalence to tick borne diseases in the Finnish dog population. Our results indicate that dogs in Finland are exposed to vector borne diseases, with Ap being the most seroprevalent of the diseases tested, followed by Bb. Almost 50% of dogs living in Aland Islands were Ap seropositive. This finding suggests the possibility of a high incidence of Ap infection in humans in this region. Knowing the distribution of seroprevalence in dogs may help predict the pattern of a tick borne disease and may aid in diagnostic and prevention efforts.

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Nail alterations are frequently seen in daily practice, but they are often difficult to interpret. Basic knowledge of the anatomy and biology of the nail facilitates their diagnosis as this frequently allows their development and morphology to be explained. The following short review gives hints at the most important infections, inflammatory nail diseases and tumors.