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Practice Guideline
Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-analysis and Clinical Practice Guideline.
Alpha-1-Antitrypsin (A1AT) deficiency is a common hereditary disorder associated with increased risk of developing chronic obstructive pulmonary disease (COPD). Many individuals with severe A1AT deficiency go undiagnosed, or are diagnosed late, and fail to benefit from disease-specific counseling and modifying care. Since the 2012 Canadian Thoracic Society (CTS) A1AT deficiency clinical practice guideline, new approaches to optimal diagnosis using modern genetic testing and studies of A1AT augmentation therapy have been published. ⋯ We suggest genetic testing with DNA sequencing of SERPINA1 gene as the initial test for individuals with high clinical suspicion for A1AT deficiency, and initial measurement of serum A1AT levels in individuals with moderate clinical suspicion of A1AT deficiency, followed by genetic testing with DNA sequencing of SERPINA1 gene if A1AT level is <23 μmol/L (<1.2 g/L). Following identification of an abnormal gene for A1AT in individuals, whether heterozygote or homozygote, we suggest first-degree relatives be provided genetic counseling and offered testing for A1AT deficiency. The panel conditionally recommends A1AT augmentation therapy to non-smoking or ex-smoking patients with COPD (FEV1 < 80% predicted; associated with emphysema), with documented deficiency genotypes and severely reduced A1AT level (< 11 μmol/L or < 0.57 g/L) in addition to receiving optimal pharmacological and nonpharmacological therapies for COPD.
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Survivorship after coronavirus disease 2019 (COVID-19) critical illness may be associated with important long-term sequelae, but little is known regarding mental health outcomes. ⋯ As compared to survival after critical illness from non-COVID-19 pneumonia, survival after COVID-19 critical illness was not associated with increased risk of the composite outcome of new mental health diagnosis, but was associated with elevated risk for new mood, anxiety, or related disorders.
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Quoting patients in electronic medical record (EMR) notes is controversial. Quotations may be used to promote accuracy in documentation. However they also may be used to cast skepticism on patient speech. Little is known about how quotations are used in EMR notes documenting goal of care (GOC) conversations. ⋯ This multicenter study found quotations were used in almost one-third of GOC notes, were used more often used by palliative versus non-palliative clinicians and were present more often in notes for Black versus White patients. Future research must explore clinician intentions in using quotations and identify whether quotation use may contribute to racial disparities in patient care.