941 resultados para Familial component
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Simultaneous measurements of EEG-functional magnetic resonance imaging (fMRI) combine the high temporal resolution of EEG with the distinctive spatial resolution of fMRI. The purpose of this EEG-fMRI study was to search for hemodynamic responses (blood oxygen level-dependent - BOLD responses) associated with interictal activity in a case of right mesial temporal lobe epilepsy before and after a successful selective amygdalohippocampectomy. Therefore, the study found the epileptogenic source by this noninvasive imaging technique and compared the results after removing the atrophied hippocampus. Additionally, the present study investigated the effectiveness of two different ways of localizing epileptiform spike sources, i.e., BOLD contrast and independent component analysis dipole model, by comparing their respective outcomes to the resected epileptogenic region. Our findings suggested a right hippocampus induction of the large interictal activity in the left hemisphere. Although almost a quarter of the dipoles were found near the right hippocampus region, dipole modeling resulted in a widespread distribution, making EEG analysis too weak to precisely determine by itself the source localization even by a sophisticated method of analysis such as independent component analysis. On the other hand, the combined EEG-fMRI technique made it possible to highlight the epileptogenic foci quite efficiently.
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Angiotensin-converting enzyme (ACE) activity and polymorphism contribute significantly to the prognosis of patients with cardiomyopathy. The aim of this study was to determine the activity and type of ACE polymorphism in patients with familial and nonfamilial hypertrophic cardiomyopathy (HCM) and to correlate these with echocardiographic measurements (echo-Doppler). We studied 136 patients (76 males) with HCM (69 familial and 67 nonfamilial cases). Mean age was 41 ± 17 years. DNA was extracted from blood samples for the polymerase chain reaction and the determination of plasma ACE levels. Left ventricular mass, interventricular septum, and wall thickness were measured. Mean left ventricular mass index, interventricular septum and wall thickness in familial and nonfamilial forms were 154 ± 63 and 174 ± 57 g/m² (P = 0.008), 19 ± 5 and 21 ± 5 mm (P = 0.02), and 10 ± 2 and 12 ± 3 mm (P = 0.0001), respectively. ACE genotype frequencies were DD = 35%, ID = 52%, and II = 13%. A positive association was observed between serum ACE activity and left ventricular mass index (P = 0.04). Logistic regression showed that ACE activity was twice as high in patients with familial HCM and left ventricular mass index ≥190 g/m² compared with the nonfamilial form (P = 0.02). No other correlation was observed between ACE polymorphisms and the degree of myocardial hypertrophy. In conclusion, ACE activity, but not ACE polymorphisms, was associated with the degree of myocardial hypertrophy in the patients with HCM.
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Genes encoding lipoproteins LipL32, LipL41 and the outer-membrane protein OmpL1 of leptospira were recombined and cloned into a pVAX1 plasmid. BALB/c mice were immunized with LipL32 and recombined LipL32-41-OmpL1 using DNA-DNA, DNA-protein and protein-protein strategies, respectively. Prime immunization was on day 1, boost immunizations were on day 11 and day 21. Sera were collected from each mouse on day 35 for antibody, cytokine detection and microscopic agglutination test while spleen cells were collected for splenocyte proliferation assay. All experimental groups (N = 10 mice per group) showed statistically significant increases in antigen-specific antibodies, in cytokines IL-4 and IL-10, as well as in the microscopic agglutination test and splenocyte proliferation compared with the pVAX1 control group. The groups receiving the recombined LipL32-41-OmpL1 vaccine induced anti-LipL41 and anti-OmpL1 antibodies and yielded better splenocyte proliferation values than the groups receiving LipL32. DNA prime and protein boost immune strategies stimulated more antibodies than a DNA-DNA immune strategy and yielded greater cytokine and splenocyte proliferation than a protein-protein immune strategy. It is clear from these results that recombination of protective antigen genes lipL32, lipL41, and ompL1 and a DNA-protein immune strategy resulted in better immune responses against leptospira than single-component, LipL32, or single DNA or protein immunization.
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Oxygen therapy is essential for the treatment of some neonatal critical care conditions but its extrapulmonary effects have not been adequately investigated. We therefore studied the effects of various oxygen concentrations on intestinal epithelial cell function. In order to assess the effects of hyperoxia on the intestinal immunological barrier, we studied two physiological changes in neonatal rats exposed to hyperoxia: the change in intestinal IgA secretory component (SC, an important component of SIgA) and changes in intestinal epithelial cells. Immunohistochemistry and Western blot were used to detect changes in the intestinal tissue SC of neonatal rats. To detect intestinal epithelial cell growth, cells were counted, and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) and Giemsa staining were used to assess cell survival. Immunohistochemistry was used to determine SC expression. The expression of intestinal SC in neonatal rats under hyperoxic conditions was notably increased compared with rats inhaling room air (P < 0.01). In vitro, 40% O2 was beneficial for cell growth. However, 60% O2 and 90% O2 induced rapid cell death. Also, 40% O2 induced expression of SC by intestinal epithelial cells, whereas 60% O2did not; however, 90% O2 limited the ability of intestinal epithelial cells to express SC. In vivo and in vitro, moderate hyperoxia brought about increases in intestinal SC. This would be expected to bring about an increase in intestinal SIgA. High levels of SC and SIgA would serve to benefit hyperoxia-exposed individuals by helping to maintain optimal conditions in the intestinal tract.
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Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.
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Introduction: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis and progressive chronic renal failure in young people. Objective: To report a case of kidney transplantation father to daughter in a familial occurrence of severe bilateral nephrocalcinosis associated with ocular impairment in a non-consanguineous Brazilian family, in which two daughters had nephrocalcinosis and severe retinopathy. Methods: The index case, a 19 years-old female, had long-lasting past medical history of recurrent urinary tract infections, and the abdominal X-ray revealed bilateral multiple renal calcifications as well as ureteral lithiasis, and she was under haemodialysis. She had the diagnosis of retinitis pigmentosa in the early neonatal period. The other daughter (13 years-old) had also nephrocalcinosis with preserved kidney function, retinopathy with severe visual impairment, and in addition, she exhibited hypomagnesaemia = 0.5 mg/dL and hypercalciuria. The other family members (mother, father and son) had no clinical disease manifestation. Mutation analysis at claudin-19 revealed two heterozygous missense mutations (P28L and G20D) in both affected daughters. The other family members exhibited mutant monoallelic status. In despite of that, the index case underwent intrafamilial living donor kidney transplantation (father). Conclusion: In conclusion, the disease was characterized by an autosomal recessive compound heterozygous status and, after five years of donation the renal graft function remained stable without recurrence of metabolic disturbances or nephrocalcinosis. Besides, donor single kidney Mg2+ and Ca2+ homeostasis associated to monoallelic status did not affect the safety and the usual living donor post-transplant clinical course.
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This study compared the relative effectiveness of two computerized remedial reading programs in improving the reading word recognition, rate, and comprehension of adolescent readers demonstrating significant and longstanding reading difficulties. One of the programs involved was Autoskill Component Reading Subskills Program, which provides instruction in isolated letters, syllables, and words, to a point of rapid automatic responding. This program also incorporates reading disability subtypes in its approach. The second program, Read It Again. Sam, delivers a repeated reading strategy. The study also examined the feasibility of using peer tutors in association with these two programs. Grade 9 students at a secondary vocational school who satisfied specific criteria with respect to cognitive and reading ability participated. Eighteen students were randomly assigned to three matched groups, based on prior screening on a battery of reading achievement tests. Two I I groups received training with one of the computer programs; the third group acted as a control and received the remedial reading program offered within the regular classroom. The groups met daily with a trained tutor for approximately 35 minutes, and were required to accumulate twenty hours of instruction. At the conclusion of the program, the pretest battery was repeated. No significant differences were found in the treatment effects of the two computer groups. Each of the two treatment groups was able to effect significantly improved reading word recognition and rate, relative to the control group. Comprehension gains were modest. The treatment groups demonstrated a significant gain, relative to the control group, on one of the three comprehension measures; only trends toward a gain were noted on the remaining two measures. The tutoring partnership appeared to be a viable alternative for the teacher seeking to provide individualized computerized remedial programs for adolescent unskilled readers. Both programs took advantage of computer technology in providing individualized drill and practice, instant feedback, and ongoing recordkeeping. With limited cautions, each of these programs was considered effective and practical for use with adolescent unskilled readers.
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The ability to identify adolescents who are at risk for becoming smokers may prove useful in developing effective smoking prevention programs. The purpose of this stUdy was to assess the importance of familial smoking behaviours on adolescent smoking patterns. The results were based on responses to The Grade 7 Lincoln County Smoking Survey designed by Chudzik and Partington (1994), and are a part of the "Peer Assisted Learning Program· (PAL) presented by the Niagara Regional Health Services Department, with the cooperation of a local Board of Education (Region of Niagara). The results indicate that 12% of the total group of 450 Grade 7 student respondents were current smokers at the time the data were collected (13% males and 11% females), while more than 37% of individuals indicated that they had tried smoking previously. Of the individuals who were classified as smokers, 11% reported that they smoked because their parents smoked, but only 6% reported that they smoked because their siblings smoked. More concerning, however, is the finding that 4% of smokers reported that they felt pressured to smoke by their relatives. In a society that is becoming increasingly concerned about health, it is also alarming to observe that only 50% of the respondents within this sample reported that there were no smokers (parents/siblings) in their homes. The results also indicate that 33% percent of respondents had grandparents who continued to smoke, and 53% of respondents indentified other relatives who continued to smoke.
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The CATCH Kids Club (CKC) is an after-school intervention that has attempted to address the growing obesity and physical inactivity concerns publicized in current literature. Using Self-Determination Theory (SDT: Deci & Ryan, 1985) perspective, this study's main research objective was to assess, while controlling for gender and age, i f there were significant differences between the treatment (CKC program participants) and control (non- eKC) groups on their perceptions of need satisfaction, intrinsic motivation and optimal challenge after four months of participation and after eight months of participation. For this study, data were collected from 79 participants with a mean age of9.3, using the Situational Affective State Questionnaire (SASQ: Mandigo et aI., 2008). In order to determine the common factors present in the data, a principal component analysis was conducted. The analysis resulted in an appropriate three-factor solution, with 14 items loading onto the three factors identified as autonomy, competence and intrinsic motivation. Initially, a multiple analysis of co-variance (MANCOY A) was conducted and found no significant differences or effects (p> 0.05). To further assess the differences between groups, six analyses of co-variance (ANeOY As) were conducted, which also found no significant differences (p >0 .025). These findings suggest that the eKC program is able to maintain the se1fdetermined motivational experiences of its participants, and does not thwart need satisfaction or self-determined motivation through its programming. However, the literature suggests that the CKe program and other P A interventions could be further improved by fostering participants' self-determined motivational experiences, which can lead to the persistence of healthy PA behaviours (Kilpatrick, Hebert & Jacobsen, 2002).
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Please consult the paper edition of this thesis to read. It is available on the 5th Floor of the Library at Call Number: Z 9999 E38 K535 2008
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The initial timing of face-specific effects in event-related potentials (ERPs) is a point of contention in face processing research. Although effects during the time of the N170 are robust in the literature, inconsistent effects during the time of the P100 challenge the interpretation of the N170 as being the initial face-specific ERP effect. The interpretation of the early P100 effects are often attributed to low-level differences between face stimuli and a host of other image categories. Research using sophisticated controls for low-level stimulus characteristics (Rousselet, Husk, Bennett, & Sekuler, 2008) report robust face effects starting at around 130 ms following stimulus onset. The present study examines the independent components (ICs) of the P100 and N170 complex in the context of a minimally controlled low-level stimulus set and a clear P100 effect for faces versus houses at the scalp. Results indicate that four ICs account for the ERPs to faces and houses in the first 200ms following stimulus onset. The IC that accounts for the majority of the scalp N170 (icNla) begins dissociating stimulus conditions at approximately 130 ms, closely replicating the scalp results of Rousselet et al. (2008). The scalp effects at the time of the P100 are accounted for by two constituent ICs (icP1a and icP1b). The IC that projects the greatest voltage at the scalp during the P100 (icP1a) shows a face-minus-house effect over the period of the P100 that is less robust than the N 170 effect of icN 1 a when measured as the average of single subject differential activation robustness. The second constituent process of the P100 (icP1b), although projecting a smaller voltage to the scalp than icP1a, shows a more robust effect for the face-minus-house contrast starting prior to 100 ms following stimulus onset. Further, the effect expressed by icP1 b takes the form of a larger negative projection to medial occipital sites for houses over faces partially canceling the larger projection of icP1a, thereby enhancing the face positivity at this time. These findings have three main implications for ERP research on face processing: First, the ICs that constitute the face-minus-house P100 effect are independent from the ICs that constitute the N170 effect. This suggests that the P100 effect and the N170 effect are anatomically independent. Second, the timing of the N170 effect can be recovered from scalp ERPs that have spatio-temporally overlapping effects possibly associated with low-level stimulus characteristics. This unmixing of the EEG signals may reduce the need for highly constrained stimulus sets, a characteristic that is not always desirable for a topic that is highly coupled to ecological validity. Third, by unmixing the constituent processes of the EEG signals new analysis strategies are made available. In particular the exploration of the relationship between cortical processes over the period of the P100 and N170 ERP complex (and beyond) may provide previously unaccessible answers to questions such as: Is the face effect a special relationship between low-level and high-level processes along the visual stream?
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This study examined the relationship between socio-demographic factors and family and partner pressure to conceive in women living with HIV in Ontario, Canada. A total of 490 women, aged 18-52 years were included in the study. The HIV Pregnancy Planning Questionnaire was used to collect data on socio-demographic, medical, and pressure variables. Multivariate logistic regression analysis suggest that increased age, years lived in Canada, and living in Toronto were associated with lower odds, and being married and having 0-1 lifetime births were associated with higher odds of family pressure to conceive. Increased age was associated with lower odds, and being married and living in Toronto were associated with higher odds of partner pressure to conceive. Findings suggest that socio-demographic factors influence the fertility decision-making process. Health care providers should consider socio-demographic factors along with medical factors when assisting women living with HIV and their partners to make informed reproductive decisions.
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Affiliation: CHU Ste-Justine, Université de Montréal