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1.
In a previous article we reported that mutations favoring cancer at adulthood seemed to improve fertility and limit miscarriages. Because spontaneous abortion may result from anomalies in embryo, we questioned if an increased frequency of congenital malformation could be evidenced among cancer-prone families. Oncogenetics database (≈193 000 members) of the comprehensive cancer center Jean Perrin was crossed with regional registry of congenital malformations (≈10 000). Among children born between 1986 and 2011, 176 children with malformation matched in both databases. In breast/ovaries cancer-prone families, the risk for malformations was multiplied by 2.4 [1.2-4.5] in case of a BRCA1 mutation. Frequencies of malformation in BRCA2 and MMR mutated families were similar to families without a cancer syndrome. In comparison to malformations concerning a unique anatomical system, multimalformations were significantly more frequent in case of BRCA or MMR mutations: compared to families without cancer syndrome, the risk of multimalformations was multiplied by 4.1 [0.8-21.7] for cancer-prone families but with no known deleterious mutation, by 6.9 [1.2-38.6] in families with a known mutation but an unknown parental mutational status and by 10.4 [2.3-46.0] when one parent carried the familial mutation. No association with the type of anatomical system was found, nor with multiple births. These results suggest that BRCA and MMR genes play an important role in human embryogenesis and that if their function is lowered because of heterozygote mutations, congenital malformations are either more likely (BRCA1 mutations) and/or more susceptible to concern several anatomical systems.  相似文献   
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Objective

Arch obstruction after the Norwood procedure is common and contributes to mortality. We determined the prevalence, associated factors, and practice variability of arch reintervention and assessed whether arch reintervention is associated with mortality.

Methods

From 2005 to 2017, 593 neonates in the Congenital Heart Surgeons' Society Critical Left Heart Obstruction cohort underwent a Norwood procedure. Median follow-up was 3.7 years. Multivariable parametric models, including a modulated renewal analysis, were performed.

Results

Of the 593 neonates, 146 (25%) underwent 218 reinterventions for arch obstruction after the Norwood procedure: catheter-based (n = 168) or surgical (n = 50) at a median age of 4.3 months (quartile 1-quartile 3, 2.6-5.7). Interdigitation of the distal aortic anastomosis was protective against arch reintervention. Development of ≥ moderate tricuspid valve regurgitation and right ventricular dysfunction at any point was associated with arch reintervention. Nonsignificant variables for arch reintervention included shunt type and preoperative aortic measurements. Surgical arch reintervention was protective against arch reintervention, but transcatheter reintervention was associated with increased reintervention. Arch reintervention was not associated with increased mortality. There was wide institutional variation in incidence of arch reintervention (range, 0-40 reinterventions per 100 years patient follow-up) and in preintervention gradient (range, 0-64 mm Hg).

Conclusions

Interdigitation of the distal aortic anastomosis during the Norwood procedure decreased the risk of arch reintervention. Surgical arch reintervention is more definitive than transcatheter. Arch reintervention after the Norwood procedure is not associated with increased mortality. Serial surveillance for arch obstruction, integrated with changes in right ventricular function and tricuspid valve regurgitation, is recommended after the Norwood procedure to improve outcomes.  相似文献   
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Background

A history of childhood maltreatment and psychopathology are common in adults with obesity.

Objectives

To report childhood maltreatment and to evaluate associations between severity and type of childhood maltreatment and lifetime history of psychopathology among adults with severe obesity awaiting bariatric surgery.

Setting

Four clinical centers of the Longitudinal Assessment of Bariatric Surgery Research Consortium.

Methods

The Childhood Trauma Questionnaire, which assesses presence/severity (i.e., none, mild, moderate, severe) of physical abuse, mental abuse, physical neglect, mental neglect, and sexual abuse, was completed by 302 female and 66 male bariatric surgery patients. Presurgery lifetime history of psychopathology and suicidal ideation/behavior were assessed with the Structured Clinical Interview for DSM-IV and the Suicidal Behavioral Questionnaire-Revised, respectively. Presurgery lifetime history of antidepressant use was self-reported.

Results

Two thirds (66.6%) of females and 47.0% of males reported at least 1 form of childhood trauma; 42.4% and 24.2%, respectively, at greater than or equal to moderate severity. Among women, presence/greater severity of childhood mental or physical abuse or neglect was associated with a higher risk of history of psychopathology (i.e., major depressive disorder, posttraumatic stress disorder, other anxiety disorder, alcohol use disorder, binge eating disorder), suicidal ideation/behavior and antidepressant use (P for all ≤ .02). These associations were independent of age, race, education, body mass index, and childhood sexual abuse. Childhood sexual abuse was independently associated with a history of suicidal ideation/behavior and antidepressant use only (P for both ≤ .05). Statistical power was limited to evaluate these associations among men.

Conclusion

Among women with obesity, presence/severity of childhood trauma was positively associated with relatively common psychiatric disorders.  相似文献   
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Background

One approach to boost influenza vaccination coverage has been to expand immunization authority. In 2012, the province of Ontario gave community pharmacists the authority to administer the influenza vaccine.

Objective

This study investigates the perspectives of Ontario pharmacy patrons, who had not recently received this vaccine from a pharmacist, regarding this pharmacist service.

Methods

A survey was administered in six Ontario community pharmacies to pharmacy patrons who had not received an influenza vaccination from a pharmacist during the previous year. The instrument included questions about influenza vaccination, and knowledge of and attitudes toward vaccines and pharmacist-administered immunization.

Results

A total of 541 pharmacy patrons completed the survey (53.9% response rate). About one-third (30.5%) of respondents were not aware that pharmacists could give the influenza vaccine, with younger individuals being less likely to be aware (OR 0.48, 95% CI 0.29–0.77, p?<?0.05) and less likely to receive the vaccine annually (OR 0.28, 95% CI 0.19–0.42, p?<?0.05). Leading reasons respondents gave as to why they did not receive their influenza vaccine from a pharmacist included not wanting or feeling they needed to be immunized (41.6%) and being used to receiving the vaccine from a physician (16.5%). Concerns about the experience and training of pharmacists and lack of privacy in a community pharmacy were uncommon.

Conclusion

Reduced awareness of the availability of pharmacist-provided influenza vaccine is still common. Pharmacists have a significant opportunity to address lack of awareness and vaccine hesitancy issues. They can promote this service to increase influenza vaccination rates among pharmacy patrons who do not utilize this professional service.  相似文献   
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Rates of smoking during pregnancy remain high in Canada, and cessation rates are low among women who are younger than 24 years and who are socially disadvantaged, that is, have few social and economic resources because of poverty, violence, or mental health issues. On the basis of findings from literature reviews and consultation with policy makers, we developed and operationalized four approaches that can be used by health care providers to tailor interventions for tobacco use in pregnancy. These four approaches are woman centered, trauma informed, harm reducing, and equitable. Public health initiatives that address smoking in young and socially disadvantaged women could be more sharply focused by shifting to such tailored approaches that are grounded in social justice aims, span pre- and postpregnancy periods, and can be used to address women’s social contexts and concerns.  相似文献   
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