Henry Schein (United States)

Abstract Background Andersen-Tawil syndrome (ATS) is an ultrarare channelopathy caused by pathogenic variants in the KCNJ2. It presents with the typical triad of symptoms – U-wave in the ECG and ventricular arrhythmias, periodic paralysis, and dysmorphic features. Cardiac risk assessment in ATS is difficult due to the heterogeneity clinical manifestation. Some studies showed that polymorphisms in other genes could influence the course of ATS as well as in other LQT syndromes. Purpose The aim of this research was to identify polymorphisms in other genes associated with cardiovascular diseases, which could increase the risk of serious cardiac events in ATS. Methods This study consisted of 44 cases with confirmed pathogenic variants in KCNJ2 (73% women, mean age 36.2 +/- 15.6). The TruSight Cardio panel and custom panel were used. Coding regions of the genes together with flanking sequences were sequenced. Variants located within 77 genes present in both panels were qualified for further analyses. Two risk groups were distinguished. The highest risk (called Group I) group included 5 patients with a history of cardiac arrest (CA) or adequate ICD intervention. The high risk group (called Group II) included 18 patients with the above events or with syncope. They were compared with the remaining patients who were included in the control groups (respectively - Control Group I and II). Fisher's test was used for statistical analysis of the results. The Bootstrap method with correction for multiple comparisons was performed to assess the reliability of the obtained data. Results In genetic testing 2143 variants were detected, including 274 missense type variants. The statistical analysis revealed 57 variants (incl. 9 missense variants) for Group I and 37 variants (incl. 2 missense variants) for Group II (p < 0.05 for both groups). The highest statistical significance was achieved for a variant NM_004281.4: c.212G>A (p.Arg71Gln) in BAG3 – p = 0.0005 for Group I and p = 0.0026 for Group II. This variant was the only one that retained statistical significance after the Bootstrap analysis for missense type variants. Additionally, the occurrence of the BAG3 variant in Group I was compared to the Control group II - the group with the lowest risk (received p = 0.0002). In this comparison, statistical significance was retained even after the Bootstrap analysis for all variants. The next step was to assess the trend (using the Cochran-Armitage Trend test) for occurrence of this variant in the subsequent groups with a variable degree of risk (showed in Figure). In this analysis p < 0.0001 was obtained. The significance was retained after the Bootstrap analysis, considering all variants. Conclusion New generation sequencing could be useful in cardiac risk assessment in ATS. We showed that variant in BAG3 - p.Arg71Gln is the genetic risk factor for serious cardiac events in ATS. It could be helpful in making decisions about treatment of patients with this channelopathy.

One of the hypothesized protective mechanisms of soy against breast cancer involves changes in estrogen metabolism to 2-hydroxy (OH) and 16α-OH estrogens. The current analysis examined the effect of soy foods on the 2:16α-OH E1 ratio among premenopausal women during a randomized, crossover intervention study; women were stratified by equol producer status, a characteristic thought to enhance the protective effects of soy isoflavones. The study consisted of a high-soy diet with 2 soy food servings/day and a low-soy diet with <3 servings of soy/wk for 6 mo each; estrogen metabolites were measured in 3 overnight urines (baseline and at the end of the low- and high-soy diet) using gas chromatography mass spectrometry for the 82 women who completed the study. Urinary isoflavonoids were assessed by liquid chromatography mass spectrometry. When applying mixed models, the 2:16α-OH E1 ratio increased (P = 0.05) because of a nonsignificant decrease in 16α-OH E1 (P = 0.21) at the end of the high-soy diet. Similar nonsignificant increases in the 2:16α-OH E1 ratio were observed in equol producers (P = 0.13) and nonproducers (P = 0.23). These findings suggest a beneficial influence of soy foods on estrogen metabolism regardless of equol producer status.

Un «Petit Voyage» aux «Nouveautés dramatiques» Le 5 septembre 1921, un navire largue sur les quais du port de Montréal un pauvre hère à bout de ressources.Ce rat de cale, marseillais de naissance, parisien d'adoption, ignorait alors que le destin ferait de lui un virtuose de la torture, du sadisme et de la cruauté.Aurait-il repris la mer si on lui avait appris que ses intrigues feraient pleurer par dizaines de milliers ces Québécois et surtout ces Québécoises qui l'accueillaient?Quoi qu'il en soit, après le triomphe de sa Mère abandonnée 1 , Henry Deyglun est perçu essentiellement comme un auteur de mélodrames.Mais c'est là une erreur de perspective que l'histoire littéraire hésite encore à corriger.S'il est un élément, en effet, qui caractérise l'oeuvre de cet auteur prolifique, c'est la diversité.Deyglun pratique la comédie, le drame, le roman et l'essai.Dès 1933, il se lance avec bonheur dans l'écriture radiophonique.Il ne faut donc pas s'étonner qu'en octobre 1950, lorsque les Nouveautés dramatiques 2 apparaissent à l'horaire de Radio-Canada, Henry Deyglun soit un des premiers à y apporter sa collaboration.Le Petit Voyage est diffusé le 12 novembre 1950, dans une réalisation de Guy Beaulne 3 .En 1950, bien sûr, on ne se pose pas les mêmes questions qu'aujourd'hui.À tout le moins, on ne les pose pas de la même façon.Voilà pourquoi nous avons voulu prendre, comme point de départ de notre analyse, les questions posées par les intervenants eux-mêmes dans la série