974 resultados para Familial Variety
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Selostus: Kauran ytimen β-glukaanipitoisuus
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BACKGROUND: Two major sources of heterogeneity of mood disorders that have been demonstrated in clinical, family and genetic studies are the mood disorder subtype (i.e. bipolar (BPD) and major depressive disorder (MDD)) and age of onset of mood episodes. Using a prospective high-risk study design, our aims were to test the specificity of the parent-child transmission of BPD and MDD and to establish the risk of psychopathology in offspring in function of the age of onset of the parental disorder. METHODS: Clinical information was collected on 208 probands (n=81 with BPD, n=64 with MDD, n=63 medical controls) as well as their 202 spouses and 372 children aged 6-17 years at study entry. Parents and children were directly interviewed every 3 years (mean duration of follow-up=10.6 years). Parental age of onset was dichotomized at age 21. RESULTS: Offspring of parents with early onset BPD entailed a higher risk of BPD HR=7.9(1.8-34.6) and substance use disorders HR=5.0(1.1-21.9) than those with later onset and controls. Depressive disorders were not significantly increased in offspring regardless of parental mood disorder subtype or age of onset. LIMITATIONS: Limited sample size, age of onset in probands was obtained retrospectively, age of onset in co-parents was not adequately documented, and a quarter of the children had no direct interview. CONCLUSIONS: Our results provide support for the independence of familial aggregation of BPD from MDD and the heterogeneity of BPD based on patterns of onset. Future studies should further investigate correlates of early versus later onset BPD.
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Le présent rapport est structuré de la manière suivante : le chapitre 2 décrit la méthode utilisée ; le chapitre 3 est consacré à l'activité de consultation et le chapitre 4 à l'action communautaire. Le chapitre 5 concerne la notion de centre de référence. Une analyse ciblée de la littérature, ainsi que les consultations de santé sexuelle dans les autres cantons romands sont présentés au chapitre 6. Les conclusions et recommandations sont exposées au chapitre 7.
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AIMS: We aimed to assess the prevalence and management of clinical familial hypercholesterolaemia (FH) among patients with acute coronary syndrome (ACS). METHODS AND RESULTS: We studied 4778 patients with ACS from a multi-centre cohort study in Switzerland. Based on personal and familial history of premature cardiovascular disease and LDL-cholesterol levels, two validated algorithms for diagnosis of clinical FH were used: the Dutch Lipid Clinic Network algorithm to assess possible (score 3-5 points) or probable/definite FH (>5 points), and the Simon Broome Register algorithm to assess possible FH. At the time of hospitalization for ACS, 1.6% had probable/definite FH [95% confidence interval (CI) 1.3-2.0%, n = 78] and 17.8% possible FH (95% CI 16.8-18.9%, n = 852), respectively, according to the Dutch Lipid Clinic algorithm. The Simon Broome algorithm identified 5.4% (95% CI 4.8-6.1%, n = 259) patients with possible FH. Among 1451 young patients with premature ACS, the Dutch Lipid Clinic algorithm identified 70 (4.8%, 95% CI 3.8-6.1%) patients with probable/definite FH, and 684 (47.1%, 95% CI 44.6-49.7%) patients had possible FH. Excluding patients with secondary causes of dyslipidaemia such as alcohol consumption, acute renal failure, or hyperglycaemia did not change prevalence. One year after ACS, among 69 survivors with probable/definite FH and available follow-up information, 64.7% were using high-dose statins, 69.0% had decreased LDL-cholesterol from at least 50, and 4.6% had LDL-cholesterol ≤1.8 mmol/L. CONCLUSION: A phenotypic diagnosis of possible FH is common in patients hospitalized with ACS, particularly among those with premature ACS. Optimizing long-term lipid treatment of patients with FH after ACS is required.
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Problématique. Le vieillissement de la population continuera à transformer la démographie. Sa conséquence est une augmentation des besoins de santé chez les personnes âgées que le système sanitaire ne peut couvrir à lui seul. La contribution conséquente des aidants familiaux constitue un pilier nécessaire et essentiel du maintien à domicile. Or, les exigences du rôle d'aidant peuvent dépasser ses capacités et conduire à une hospitalisation. Ces sources de stress, auxquelles s'ajoutent les manifestations de la maladie du proche et des difficultés de collaboration avec les professionnels de santé, peuvent générer un sentiment d'impuissance chez l'aidant. Ce dernier s'ajuste à ce stress par des stratégies de coping, influencées par le degré de contrôle perçu, dont le niveau le plus bas est l'impuissance. But. Explorer la relation entre le sentiment d'impuissance et le coping chez l'aidant à l'occasion de l'hospitalisation du proche. Méthode. Cette étude corrélationnelle descriptive a été conduite auprès de 33 aidants familiaux dont le proche est hospitalisé, recrutés selon un échantillonnage de convenance. Le questionnaire auto-administré comportait trois1 instruments : (a) questionnaire sociodémographique, (b) Ways of Coping Checklist-R, (c) sous-échelle d'impuissance de l'Empowerment Scale (allant de 1 à 4, quatre correspondant à un faible degré d'impuissance). Des comparaisons de moyennes et des corrélations de Pearson ont été effectués. Résultats. L'échantillon est constitué de 45,45 % d'hommes aidants, âgés en moyenne de 61 ans. Les participants viennent en aide à des proches âgés en moyenne de 79 ans. Pour la plus grande part, les aidants assistent leurs proches pour les activités instrumentales de la vie quotidienne. La moitié de l'échantillon fournit de 1 à 5 heures d'aide par semaine. Les participants se sentent relativement peu impuissants (M = 2,55). Cependant, plus l'âge des aidants augmente, plus l'impuissance augmente (r = -0,45 ; p < 0,0106). L'impuissance est plus élevée chez les hommes que chez les femmes (M = 2,40 vs M = 2,67 ; p = 0,0270). Dans cet échantillon, il n'y a pas de différence de sentiment d'impuissance selon que les aidants fournissent ou non une aide pour les activités de la vie quotidienne (AVQ), ni selon le nombre d'heures d'aide fournies par semaine. Le style de coping privilégié par les aidants est le coping centré sur le problème, puis sur la recherche de soutien social et finalement sur l'émotion. Les aidants fournissant de l'aide dans les AVQ privilégient le coping centré sur l'émotion alors qu'il n'existe pas de différence pour les deux autres styles de coping. Aucune relation entre l'impuissance et le coping n'apparaît. Conclusions. Malgré les limites de l'étude, notamment liées à la mesure de l'impuissance, les présents résultats sont compatibles avec les études antérieures. Il est néanmoins préconisé d'approfondir les connaissances utiles au renforcement du rôle infirmier auprès des aidants familiaux. Cela doit contribuer à préserver la santé de l'aidant, son rôle auprès du proche et le maintien à domicile de ce dernier.
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Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.
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A method to generate carbonylic compounds from alkynes under mild and neutral conditions, with excellent functional group compatibility and high yields, is described. Hydration takes place under catalytic conditions by using from 0.1 to 0.2 equivalents of the easily available and inexpensive mercury(II) p-toluensulfonamidate in a hydroalcoholic solution. After use the catalyst is iner tized and/or recycled ...
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Prediction of variety composite means was shown to be feasible without diallel crossing the parental varieties. Thus, the predicted mean for a quantitative trait of a composite is given by: Yk = a1 sigmaVj + a2sigmaTj + a3 - a4
, with coefficients a1 = (n - 2k)/k²(n - 2); a2 = 2n(k - 1)/k²(n - 2); a3 = n(k - 1)/k(n - 1)(n - 2); and a4 = n²(k - 1)/k(n - 1)(n - 2); summation is for j = 1 to k, where k is the size of the composite (number of parental varieties of a particular composite) and n is the total number of parent varieties. Vj is the mean of varieties and Tj is the mean of topcrosses (pool of varieties as tester), and
and
are the respective average values in the whole set. Yield data from a 7 x 7 variety diallel cross were used for the variety means and for the "simulated" topcross means to illustrate the proposed procedure. The proposed prediction procedure was as effective as the prediction based on Yk =
- (
-
)/k, where
and
refer to the mean of hybrids (F1) and parental varieties, respectively, in a variety diallel cross. It was also shown in the analysis of variance that the total sum of squares due to treatments (varieties and topcrosses) can be orthogonally partitioned following the reduced model Yjj = mu + ½(v j + v j) +
+ h j+ h j, thus making possible an F test for varieties, average heterosis and variety heterosis. Least square estimates of these effects are also given
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Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB) is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one family. Both 5' and 3' breakpoint regions were located within Alu repetitive sequences, which are probably involved in the crossing over that generated this rearrangement. The Lebanese mutation was detected in 9 of the 31 families, always associated with Arab ancestry. Two different LDLr gene haplotypes were demonstrated in association with the Lebanese mutation. Our results suggest the importance of the Lebanese mutation as a cause of FH in Brazil and by analogy the same feature may be expected in other countries with a large Arab population, such as North American and Western European countries.