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1.
PurposeThe American College of Medical Genetics and Genomics (ACMG) recommends the return of pathogenic and likely pathogenic (P/LP) secondary findings from exome and genome sequencing. The latest version (ACMG secondary finding [SF] v3.0) includes 14 additional genes. We interrogated the ClinSeq cohort for variants in these genes to determine the additional yield in unselected individuals.MethodsExome data from 1473 individuals (60% White, 34% African American or Black, 6% other) were analyzed. We restricted our analyses to coding variants; +1,+2,–1, and –2 splice site variants; and the pathogenic GAA variant, NM_000152.5:c.-32-13T>G. Variants were assessed with slightly modified ACMG/Association of Molecular Pathology guidelines.ResultsA total of 25 P/LP variants were identified. In total, 7 individuals had P/LP variants in genes recommended for return of heterozygous variants, namely HNF1A (1), PALB2 (3), TMEM127 (1), and TTN (2). In total, 4 individuals had a homozygous variant in a gene recommended for biallelic variant return, namely HFE, NM_000410.3(HFE):c.845G>A p.Cys282Tyr. A total of 17 P/LP variants were identified in the heterozygous state in genes recommended only for biallelic variant reporting and were not returned. The frequency of returnable P/LP variants did not significantly differ by race.ConclusionUsing the ACMG SF v3.0, the returnable P/LP variant frequency increased in the ClinSeq cohort by 22%, from 3.4% (n = 50, ACMG SF v2.0) to 4.1% (n = 61, ACMG SF v3.0).  相似文献   
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Journal of Thrombosis and Thrombolysis - In patients who undergo thrombectomy for acute ischemic stroke, the relationship between pre-admission antithrombotic (anticoagulation or antiplatelet) use...  相似文献   
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Child & Youth Care Forum - In the United States, 68% of children do not get the recommended nine hours of sleep, which can lead to many negative health outcomes (e.g., mental health)....  相似文献   
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Introduction

Patients with pelvic and acetabular fractures often have considerable pain in the perioperative period. Regional anesthesia (RA) including peripheral nerve blocks and spinal analgesia may reduce pain. However, the real-world impact of these modalities on inpatient opioid consumption and outpatient opioid demand is largely unknown. The purpose of this study was to evaluate the impact of perioperative RA on inpatient opioid consumption and outpatient opioid demand.

Methods

This is a retrospective, observational review of inpatient opioid consumption and outpatient opioid demand in all patients ages 18 and older undergoing operative fixation of pelvic and acetabular fractures at a single Level, I trauma center from 7/1/2013–7/1/2018 (n = 205). Unadjusted and adjusted analyses were constructed to evaluate the impact of RA on inpatient opioid consumption and outpatient opioid demand while controlling for age, sex, race, body mass index (BMI), smoking, chronic opioid use, ASA score, injury mechanism, additional injuries, open injury, and additional inpatient surgery.

Results

Adjusted models demonstrated increases in inpatient opioid consumption in patients with RA (12.6 estimated OE’s without RA vs 16.1 OE’s with RA from 48 to 72 h post-op, p < 0.05) but no significant differences at other timepoints (17.5 estimated OE’s without RA vs 16.8 OE’s with RA from 0 to 24 h post-op, 15.3 vs 17.1 from 24 to 48 h post-op, p > 0.05). Estimated cumulative outpatient opioid demand was significantly higher in patients with RA at discharge to 90 days post-op (and 156.8 vs 207.9 OE’s to 90 days, p < 0.05) but did not differ significantly before that time (121.5 OE’s without RA vs 123.9 with RA from discharge to two weeks, 145.2 vs 177.2 OE’s to 6 weeks, p > 0.05).

Discussion

In pelvis and acetabulum fracture surgery, RA was associated with increased inpatient and outpatient opioid demand after adjusting for baseline patient and treatment characteristics. Regional anesthesia may not be beneficial for these patients.

  相似文献   
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Journal of Thrombosis and Thrombolysis - Limited data exists regarding the clinical outcomes of andexanet alfa and four factor prothrombin complex concentrate (4F-PCC) for reversal of apixaban or...  相似文献   
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