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Recently, we have witnessed a shift in the nature of genetic testing. What was once solely in the hands of the scientific community is now easily accessible to anyone. Commercial companies such as Veritas Genetics, Ancestry, and 23andMe offer cheap direct-to-consumer home DNA kits that are branded as a "health and ancestry service." These tests are gaining in popularity, and it is estimated that since their marketing, over 30 million people worldwide have provided their DNA samples. The implications of this new genetic era are diverse, ranging from the individuals personal health assessment, to family genealogy and ancestry, and the complexity of establishing an enormous population-based genetic database. Unique implications of commercial DNA tests on fertility patients and heath care providers, such as in the case of gamete donation, are important to acknowledge and have implications for reproductive care.PURPOSE To investigate the associations of previous pregnancy failures, including implantation failures (IFs), biochemical pregnancy losses (BPLs), and early (EMs) and late miscarriages (LMs), with blastocyst aneuploidy and pregnancy outcomes after PGT-A. METHODS This study included 792 couples who underwent PGT-A after multiple pregnancy failures. Subgroup analyses were used to compare the blastocyst aneuploidy rate (BAR), implantation rate (IR), early miscarriage rate (EMR), and live birth rate (LBR). Multiple linear and logistic regression models were used to evaluate the associations. The control group comprised couples with ≤ 2 IFs, ≤ 1 BPL, ≤ 1 EM, and no LM. RESULTS Notably, a history of ≥ 4 IFs was significantly associated with an increase in aneuploid blastocysts (42.86% vs. 33.05%, P = 0.044, B = 10.23 for 4 IFs; 48.80% vs. 33.05%, P = 0.002, B = 14.43 for ≥ 5 IFs). Daurisoline ic50 Women with ≥ 4 prior EMs also harbored more aneuploid blastocysts (41.00% vs. 33.05%, P = 0.048; B = 9.23). Compared with the control group, women with ≥ 4 prior EMs had a significantly higher EMR (6.58% vs. 31.11%, P less then 0.001, OR = 6.49) and a lower LBR (53.49% vs. 34.18%, P = 0.007, OR = 0.56) after euploid transfer. Moreover, a history of LM(s) was associated with adverse pregnancy outcomes after PGT-A (OR for EM = 3.16; OR for live birth = 0.48). However, previous BPLs and 2 EMs were not associated significantly with blastocyst aneuploidy and pregnancy outcomes after PGT-A. CONCLUSION A history of high-order IFs or EMs and existence of LM(s) were significantly associated with blastocyst aneuploidy and adverse pregnancy outcomes after PGT-A, whereas no such associations were observed with BPLs or 2 EMs.PURPOSE The association of chronic obstructive pulmonary disease (COPD) severity and related health status with sleep quality remains unclear. We aimed to investigate the association between COPD and sleep quality in the Greek national branch of the UNLOCK cohort. METHODS A sample of 257 COPD patients enrolled cross-sectionally from primary care in Greece. Sleep quality was assessed by the COPD and Asthma Sleep Impact Scale (CASIS-7 items) questionnaire (higher score indicates worse sleep quality). We tested for associations of sleep impairment with health status (CAT and mMRC scores), exacerbations, hospitalizations, GOLD 2018 ABCD status, inhaler adherence, frailty, and sense of coherence, adjusting for age, gender, smoking status, and comorbidities. RESULTS The majority of patients reported uncontrolled symptoms (91% with ≥ 10 CAT or 61% with ≥ 2 mMRC). Mean (SD) age was 65 (12.3) with 79% males. CASIS-7 mean (SD) score was 37.7 (12.9). After adjustments, CASIS was significantly associated with worse health status (e.g., CASIS increased with CAT ≥ 10 [β = 12.53, (95% CI, 6.82, 18.25); p less then 0.001], mMRC ≥ 2 [β = 4.96, (95% CI, 1.56, 8.34); p = 0.004]), COPD severity (CAT-based GOLD BD [β = 8.88 (95% CI, 2.50, 15.26); p = 0.007]), frailty [β = 8.85 (95% CI 4.45,13.25); p less then 0.001], and sense of coherence [β = -0.14 (95% CI -0.21, -0.06), p less then 001]. When using a CASIS cut-off score of 30 as indicator of sleep impairment, additional to the aforementioned associations, we found increased risk for sleep impairment with ≥ 2 exacerbations/year and poor inhaler adherence (p value less then 0.05). CONCLUSIONS Our study suggests that worse health status and COPD severity are associated with poor sleep quality in COPD patients.OBJECTIVE In 2011, a multidisciplinary hypertrophic cardiomyopathy (HCM) program with a dedicated myectomy surgeon was implemented at our institution. We hypothesized that a dedicated approach allows better identification and management of mitral regurgitation (MR) during septal myectomy (SM) for obstructive HCM with significant mitral regurgitation. METHODS Between 2006 and 2018, 181 patients had SM at our institution. This study consists of 53 patients with preoperative moderate or greater MR associated with systolic anterior motion who underwent isolated SM with or without mitral intervention. Patients were divided into those who underwent SM by a dedicated myectomy surgeon (group D, n = 31) or by a non-dedicated surgeon (group ND, n = 22). Primary outcome of interest was rate of mitral valve replacement (MVR) at SM. Secondary outcomes include in-hospital mortality, need for permanent pacemaker, mitral valve reoperation, and residual MR and left ventricular outflow tract gradient on postoperative echocardiography. RESULTS 12 patients (55%) had a concomitant MVR during septal myectomy in group ND compared to 2 patients (6%) in group D (p less then 0.01). Among patients who did not undergo MVR, patients in group D less commonly had residual MR than patients in ND after SM (p less then 0.01). Group D had 100% survival with NYHA class I in 94% patients at follow-up visit (p = 0.01). Reoperation for MVR was required in four patients in group ND vs. none in group D (p less then 0.01). CONCLUSIONS A dedicated surgeon is able to spare the mitral valve in patients undergoing SM. This study emphasizes the importance of surgical expertise in this cohort.
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