RESUMEN

LAY ABSTRACT: Currently, the prevalence of autism spectrum disorder (henceforth "autism") is 1 in 36, an increasing trend from previous estimates. In 2015, the United States adopted a new version (International Classification of Diseases, 10th Revision) of the World Health Organization coding system, a standard for classifying medical conditions. Our goal was to examine how the transition to this new coding system impacted autism diagnoses in 10 healthcare systems. We obtained information from electronic medical records and insurance claims data from July 2014 through December 2016 for each healthcare system. We used member enrollment data for 30 consecutive months to observe changes 15 months before and after adoption of the new coding system. Overall, the rates of autism per 1000 enrolled members was increasing for 0- to 5-year-olds before transition to International Classification of Diseases, 10th Revision and did not substantively change after the new coding was in place. There was variation observed in autism diagnoses before and after transition to International Classification of Diseases, 10th Revision for other age groups. The change to the new coding system did not meaningfully affect autism rates at the participating healthcare systems. The increase observed among 0- to 5-year-olds is likely indicative of an ongoing trend related to increases in screening for autism rather than a shift associated with the new coding.

Asunto(s)

RESUMEN

Background: Temporary mechanical circulatory support (MCS) is often used in patients with cardiogenic shock (CS), and the type of MCS may vary by cause of CS. Objectives: This study sought to describe the causes of CS in patients receiving temporary MCS, the types of MCS used, and associated mortality. Methods: This study used a nationwide Japanese database to identify patients receiving temporary MCS for CS between April 1, 2012, and March 31, 2020. Results: Of 65,837 patients, the cause of CS was acute myocardial infarction (AMI) in 77.4%, heart failure (HF) in 10.9%, valvular disease in 2.7%, fulminant myocarditis (FM) in 2.5%, arrhythmia in 4.5%, and pulmonary embolism (PE) in 2.0% of cases. The most commonly used MCS was an intra-aortic balloon pump alone in AMI (79.2%) and in HF (79.0%) and in valvular disease (66.0%), extracorporeal membrane oxygenation with intra-aortic balloon pump in FM (56.2%) and arrhythmia (43.3%), and extracorporeal membrane oxygenation alone in PE (71.5%). Overall in-hospital mortality was 32.4%; 30.0% in AMI, 32.6% in HF, 33.1% in valvular disease, 34.2% in FM, 60.9% in arrhythmia, and 59.2% in PE. Overall in-hospital mortality increased from 30.4% in 2012 to 34.1% in 2019. After adjustment, valvular disease, FM, and PE had lower in-hospital mortality than AMI: valvular disease, OR: 0.56 (95% CI: 0.50-0.64); FM: OR: 0.58 (95% CI: 0.52-0.66); PE: OR: 0.49 (95% CI: 0.43-0.56); whereas HF had similar in-hospital mortality (OR: 0.99; 95% CI: 0.92-1.05) and arrhythmia had higher in-hospital mortality (OR: 1.14; 95% CI: 1.04-1.26). Conclusions: In a Japanese national registry of patients with CS, different causes of CS were associated with different types of MCS and differences in survival.

RESUMEN

Background: Evidence of factors associated with Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) from population-based studies is scarce. Objective: We aimed to identify the incidence, risk factors, and drugs that trigger the development of SJS/TEN in the general population. Methods: A regional, population-based, longitudinal cohort with 2,398,393 Japanese individuals was analyzed using the Shizuoka Kokuho Database from 2012 to 2020. Results: Among 1,909,570 individuals, 223 (0.01%, 2.3 cases/100,000 person-years) patients were diagnosed with SJS/TEN during the observational period of a maximum of 7.5 years. In a multivariable analysis, the risks of SJS/TEN were an older age, and the presence of type 2 diabetes, peripheral vascular disease, and systemic autoimmune diseases. The administration of drugs, such as immune checkpoint inhibitors, insulin, and type 2 diabetes agents, triggered the onset of SJS/TEN. Limitations: The results may apply only to the Japanese population. Conclusion: In this cohort population from a database representing the general population, the risks of developing SJS/TEN were old age and a history of type 2 diabetes, peripheral vascular disease, and systemic autoimmune disease. Furthermore, in addition to previously reported drugs, the administration of immune checkpoint inhibitors, insulin, and type 2 diabetes agents, may trigger the development of SJS/TEN.

RESUMEN

Background: Intravascular imaging with either intravascular ultrasound (IVUS) or optical coherence tomography (OCT) during percutaneous coronary intervention (PCI) is associated with improved outcomes, but these techniques have previously been underutilized in the real world. We aimed to examine the change in utilization of intravascular imaging-guided PCI over the past decade in the United States and assess the association between intravascular imaging and clinical outcomes following PCI for myocardial infarction (MI). Methods: We surveyed the National Inpatient Sample from 2008 to 2019 to calculate the number of PCIs for MI guided by IVUS or OCT. Temporal trends were analyzed using Cochran-Armitage trend test or simple linear regression for categorical or continuous outcomes, respectively. Multivariable logistic regression was used to compare outcomes following PCI with and without intravascular imaging. Results: A total of 2,881,746 PCIs were performed for MI. The number of IVUS-guided PCIs increased by 309.9 % from 6,180 in 2008 to 25,330 in 2019 (P-trend < 0.001). The percentage of IVUS use in PCIs increased from 3.4 % in 2008 to 8.7 % in 2019 (P-trend < 0.001). The number of OCT-guided PCIs increased 548.4 % from 246 in 2011 to 1,595 in 2019 (P-trend < 0.001). The percentage of OCT guidance in all PCIs increased from 0.0 % in 2008 to 0.6 % in 2019 (P-trend < 0.001). Intravascular imaging-guided PCI was associated with lower odds of in-hospital mortality (adjusted odds ratio 0.66, 95 % confidence interval 0.60-0.72, p < 0.001). Conclusions: Although the number of intravascular imaging-guided PCIs have been increasing, adoption of intravascular imaging remains poor despite an association with lower mortality.

RESUMEN

Background: Measles, mumps, and rubella vaccine (MMR) is routinely administered to children; however, adolescents and adults may receive MMR for various reasons. Safety studies in adolescents and adults are limited. We report on safety of MMR in this age group in the Vaccine Safety Datalink. Methods: We included adolescents (aged 9-17 years) and adults (aged ≥ 18 years) who received ≥ 1 dose of MMR from January 1, 2010-December 31, 2018. Pre-specified outcomes were identified by diagnosis codes. Clinically serious outcomes included anaphylaxis, encephalitis/myelitis, Guillain-Barré syndrome, immune thrombocytopenia, meningitis, and seizure. Non-serious outcomes were allergic reaction, arthropathy, fever, injection site reaction, lymphadenopathy, non-specific reaction, parotitis, rash, and syncope. All serious outcomes underwent medical record review. Outcome-specific incidence was calculated in pre-defined post-vaccination windows. A self-controlled risk interval design was used to determine the relative risk of each outcome in a risk window after vaccination compared to a more distal control window. Results: During the study period, 276,327 MMR doses were administered to adolescents and adults. Mean age of vaccinees was 34.8 years; 65.8 % were female; 53.2 % of doses were administered simultaneously with ≥ 1 other vaccine. Serious outcomes were rare, with incidence ≤ 6 per 100,000 doses for each outcome assessed, and none had a significant elevation in incidence during the risk window compared to the control window. Incidence of non-serious outcomes per 100,000 doses ranged from 3.4 for parotitis to 263.0 for arthropathy. Other common outcomes included injection site reaction and rash (157.0 and 112.9 per 100,000 doses, respectively). Significantly more outcomes were observed during the risk window compared to the control window for all non-serious outcomes except parotitis. Some variability was observed by sex and age group. Conclusion: Serious outcomes after MMR are rare in adolescents and adults, but vaccinees should be counseled regarding anticipated local and systemic non-serious adverse events.

RESUMEN

Background: Few large-scale, real-world studies have compared the efficacy and safety of non-antivitamin K anticoagulants (NOACs) with that of warfarin in catheter ablation (CA) for atrial fibrillation (AF). Methods: This retrospective, cross-sectional study used a nationwide administrative claims database, to compare complication-incidence rates following CA for AF between NOAC-treated patients and warfarin-treated matched cohorts in the real-world. Among the 32,797,540 records between June 2011 and August 2020 from 426 hospitals, 41,347 patients (38,065 on NOACs and 3,282 on Warfarin) were considered eligible. After performing propensity matching, 6,564 patients (3,282 per group) were analyzed. Results: The overall complication incidence was significantly lower in the NOACs group than in the warfarin group (2.3 % vs. 4.0 %; P < 0.001, odds ratio [OR]: 0.55, 95 % confidence interval [CI]: 0.41-0.74). Although no significant differences in the incidence of cardiac tamponade (1.0 % vs. 1.1 %; P = 0.90, OR: 0.97, 95 % CI: 0.60-1.56) and major bleeding (0.6 % vs. 0.7 %; P = 0.54, OR: 0.83, 95 % CI: 0.44-1.52) were noted, blood transfusion requirements (0.6 % vs. 1.2 %; P = 0.02, OR: 0.52, 95 % CI: 0.30-0.88) and vascular complications (0.2 % vs. 0.5 %; P = 0.02, OR: 0.33, 95 % CI: 0.12-0.79) were significantly lower in the NOACs group than in the warfarin group. Furthermore, the thromboembolic event incidence was significantly lower in the NOACs group than in the warfarin group (0.5 % vs. 1.2 %; P < 0.001, OR: 0.36, 95 % CI: 0.19-0.64). Conclusions: NOACs should be considered as a first-line therapy for periprocedural anticoagulation in patients undergoing CA for AF.

RESUMEN

Purpose: To identify clinical factors associated with the need for future surgical intervention following closed globe ocular trauma. Design: Retrospective cohort study. Subjects Participants and/or Controls: Patients in the American Academy of Ophthalmology Intelligent Research in Sight (IRIS®) Registry with a diagnosis of closed globe ocular trauma occurring between 2013 and 2019, identified using International Classification of Disease, 10th Revision and Systematized Nomenclature of Medicine codes. Methods: Diagnosis codes were used to identify multiple concomitant diagnoses present on the date of closed globe ocular trauma. Survival analyses were performed for each outcome of interest, and linear regression was used to identify clinical factors associated with the risk of surgical intervention. Main Outcome Measures: Outcomes included retinal break treatment, retinal detachment (RD) repair, retinal break treatment or RD repair, glaucoma surgery, and cataract surgery. Results: Of the 206 807 patients with closed globe ocular trauma, 9648 underwent surgical intervention during the follow-up period (mean, 444 days): 1697 (0.8%) had RD repair, 1658 (0.8%) had retinal break treatment, 600 (0.3%) had glaucoma surgery, and 5693 (2.8%) had cataract surgery. Traumatic cataract was the strongest risk factor for cataract surgery (hazard ratio, 13.0; 95% confidence interval, 10.8-15.6), traumatic hyphema showed highest risk for glaucoma surgery (7.24; 4.60-11.4), and vitreous hemorrhage was the strongest risk factor for retinal break treatment and detachment repair (11.01; 9.18-13.2 and 14.2; 11.5-17.6, respectively) during the first 60 days after trauma date. Vitreous hemorrhage was a risk factor for cataract surgery at > 60 days after trauma date only. Iris-angle injury was the strongest risk factor for glaucoma surgery > 60 days after trauma, while vitreous hemorrhage remained the strongest factor for retinal break treatment and detachment repair at > 60 days. Traumatic hyphema was a risk factor for all surgical outcomes during all follow-up intervals. Conclusions: Diagnosis of concomitant traumatic cataract, vitreous hemorrhage, traumatic hyphema, and other risk factors may increase the likelihood of requiring surgical intervention after closed globe ocular trauma.

RESUMEN

Background: Randomized trials of direct oral anticoagulants (DOACs) adopted the Cockcroft-Gault (CG) formula to calculate estimated glomerular filtration rate (eGFR) to determine the dosages of DOACs. Objectives: The authors aimed to investigate the agreements/disagreements of eGFRs calculated using different equations (CG, Modified Diet in Renal Disease [MDRD], and Chronic Kidney Disease Epidemiology Collaboration [CKD-EPI] formulas), and their impacts on the dosages of DOACs and clinical outcomes. Methods: Medical data from a multicenter health care provider in Taiwan including 39,239 patients with atrial fibrillation were used. Among these patients, there were 11,185 and 2,323 patients treated with DOACs and warfarin, respectively. Results: At the cutoff values of eGFR of <15, 15-50, and >50 mL/min, the agreements were 78% between MDRD and CG and 81% between CKD-EPI and CG. The disagreements among the different equations were largely due to overestimations, especially for patients aged >75 years and with a body weight of <50 kg (58.8% for MDRD and 50.9% for CKD-EPI). Among patients receiving DOACs whose dosages were defined as "on label" based on MDRD or CKD-EPI, only those whose dosages were "truly on label" based on CG were associated with a lower risk of major bleeding (adjusted HR: 0.34; 95% CI: 0.26-0.45) compared to warfarin. Conclusions: The adoptions of MDRD or CKD-EPI rather than CG would result in inappropriate dosing of DOACs (mainly overdosing), which would attenuate the advantages of DOACs compared to warfarin. The CG equation should be used as the gold standard to calculate eGFRs and guide the DOAC dosages.

RESUMEN

Administrative databases are increasingly used in research studies to capture clinical outcomes such as sepsis. This systematic review and meta-analysis examines the accuracy of International Classification of Diseases, 10th revision (ICD-10), codes for identifying sepsis in adult and pediatric patients. DATA SOURCES: We searched MEDLINE, EMBASE, Web of Science, CENTRAL, Epistemonikos, and McMaster Superfilters from inception to September 7, 2021. STUDY SELECTION: We included studies that validated the accuracy of sepsis ICD-10 codes against any reference standard. DATA EXTRACTION: Three authors, working in duplicate, independently extracted data. We conducted meta-analysis using a random effects model to pool sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). We evaluated individual study risk of bias using the Quality Assessment of Diagnostic Accuracy Studies tool and assessed certainty in pooled diagnostic effect measures using the Grading of Recommendations Assessment, Development, and Evaluation framework. DATA SYNTHESIS: Thirteen eligible studies were included in the qualitative synthesis and the meta-analysis. Eleven studies used manual chart review as the reference standard, and four studies used registry databases. Only one study evaluated pediatric patients exclusively. Compared with the reference standard of detailed chart review and/or registry databases, the pooled sensitivity for sepsis ICD-10 codes was 35% (95% CI, 22-48, low certainty), whereas the pooled specificity was 98% (95% CI: 98-99, low certainty). The PPV for ICD-10 codes ranged from 9.8% to 100% (median, 72.0%; interquartile range [IQR], 50.0-84.7%). NPV ranged from 54.7% to 99.1% (median, 95.9%; interquartile range, 85.5-98.3%). CONCLUSIONS: Sepsis is undercoded in administrative databases. Future research is needed to explore if greater consistency in ICD-10 code definitions and enhanced quality measures for ICD-10 coders can improve the coding accuracy of sepsis in large databases.

RESUMEN

The Clinical Frailty Scale (CFS) is the most used frailty measure in intensive care unit (ICU) patients. Recently, the modified frailty index (mFI), derived from 11 comorbidities has also been used. It is unclear to what degree the mFI is a true measure of frailty rather than comorbidity. Furthermore, the mFI cannot be freely obtained outside of specific proprietary databases. OBJECTIVE: To compare the performance of CFS and a recently developed International Classification of Diseases-10 (ICD-10) mFI (ICD-10mFI) as frailty-based predictors of long-term survival for up to 1 year. DESIGN: A retrospective multicentric observational study. SETTING AND PARTICIPANTS: All adult (≥16 yr) critically ill patients with documented CFS scores admitted to sixteen Australian ICUs in the state of Victoria between April 1, 2017 to June 30, 2018 were included. We used probabilistic methods to match de-identified ICU admission episodes listed in the Australia and New Zealand Intensive Care Society Adult Patient Database with the Victorian Admission Episode Dataset and the Victorian Death Index via the Victorian Data Linkage Centre. MAIN OUTCOMES AND MEASURES: The primary outcome was the longest available survival following ICU admission. We compared CFS and ICD-10mFI as primary outcome predictors, after adjusting for key confounders. RESULTS: The CFS and ICD-10mFI were compared in 7,001 ICU patients. The proportion of patients categorized as frail was greater with the CFS than with the ICD-10mFI (18.9% [n = 1,323] vs. 8.8% [n = 616]; p < 0.001). The median (IQR) follow-up time was 165 (82-276) days. The CFS predicted long-term survival up to 6 months after adjusting for confounders (hazard ratio [HR] = 1.26, 95% CI, 1.21-1.31), whereas ICD-10mFI did not (HR = 1.04, 95% CI, 0.98-1.10). The ICD-10mFI weakly correlated with the CFS (Spearman's rho = 0.22) but had a poor agreement (kappa = 0.06). The ICD-10mFI more strongly correlated with the Charlson comorbidity index (Spearman's rho 0.30) than CFS (Spearman's rho = 0.25) (p < 0.001). CONCLUSIONS: CFS, but not ICD-10mFI, predicted long-term survival in ICU patients. ICD-10mFI correlated with co-morbidities more than CFS. These findings suggest that CFS and ICD-10mFI are not equivalent. RELEVANCE: CFS and ICD-10mFI are not equivalent in screening for frailty in critically ill patients and therefore ICD-10mFI in its current form should not be used.

RESUMEN

Aim: Several studies have reported that corticosteroid administration for cardiac arrest patients may improve outcomes. However, these previous studies have not examined the effect of corticosteroid use in out-of-hospital cardiac arrest (OHCA) patients administered extracorporeal cardiopulmonary resuscitation (ECPR). Therefore, we aimed to examine the effectiveness of corticosteroids in OHCA patients administered ECPR. Methods: Using the Japanese Diagnosis Procedure Combination inpatient database, we included OHCA patients who were administered ECPR on the day of admission between July 2010 and March 2019. The patients were categorized into the corticosteroid and control groups according to whether they received corticosteroids on the day of admission or not. The primary outcome was in-hospital mortality and the secondary outcomes included percentages of neurologically favorable survival, major bleeding complications, and infection-related complications. We compared the outcomes using a propensity score matching analysis. Results: We identified 6,142 eligible patients (459 vs 5,683, the corticosteroid and control group, respectively). One-to-four propensity score matching analysis (457 vs 1,827) showed in-hospital mortality was significantly higher in the corticosteroid group compared with the control group (82.1% vs 76.6%; risk difference, 5.5%; 95% CI, 1.5 to 9.5%). Neurologically favorable outcomes did not differ between the two groups (13.6% vs 16.9%; risk difference, -3.3%; 95% CI, -6.9 to 0.3%). The percentage of major bleeding complications and infection-related complications did not significantly differ between the two groups. Conclusions: The results of this study demonstrated that administration of corticosteroids on the day of admission to OHCA patients administered ECPR was associated with increased in-hospital mortality.

RESUMEN

Background: The purpose of this study is to assess which minimally invasive colon surgery approach may be associated with the least 30- and 90-day inpatient readmission costs from a payer perspective. Methods: This retrospective claims analysis included adult Medicare and commercially insured beneficiaries who underwent minimally invasive sigmoid, left, or right colon surgery between January 2016 and December 2019. Two cohorts were created based on the use of near-infrared fluorescence (NIF) and were propensity-score matched 1 NIF:5 NoNIF. Four subgroups were then created based on the presence of robotics (R): NIF-NoR, NIF-R, NoNIF-R, and NoNIF-NoR. Results: A total of 50,148 patients were identified, of which 165 (0.3%) indicated the use of NIF and 49,983 (99.7%) did not. After propensity score matching, 990 patients were included (NIF cohort: 165; NoNIF cohort: 825). Of the 165 NIF patients, 87 were robotic-assisted and 78 were conventional laparoscopy. Of the 825 NoNIF patients, 136 were robotic-assisted and 689 were conventional laparoscopy. Postindex inpatient readmission costs were significantly different between the NIF and NoNIF cohorts with the NIF cohort having the lowest 30- and 90-day postindex readmission costs. Postindex readmission costs were also significantly different across the 4 subgroups at 30 and 90 days, with the NIF-NoR group having the lowest postindex readmission costs (all P < .05). Conclusion: Using NIF without the robot during minimally invasive colon surgery is associated with the least 30- and 90-day inpatient readmission costs compared to the other 3 approaches. Hospitals may want to consider these potential cost savings when evaluating technologies for laparoscopic colon surgery. Key Message: Near-infrared fluorescence (NIF) imaging without the robot during minimally invasive colon surgery may significantly save hospitals 30- and 90-day inpatient readmission costs compared to NIF with the robot, NoNIF with the robot, and NoNIF without the robot. This is important as hospitals may want to consider these cost findings in addition to capital equipment and disposable costs when evaluating technologies for laparoscopic colon surgery.

RESUMEN

Background: GLOBOCAN 2020 and Global Burden of Disease (GBD) 2019 are the two most established global online cancer databases. It is important to examine the differences between the two platforms, to attempt to explain these differences, and to appraise the quality of the data. There are stark differences for lip and oral cancers (LOC) and we attempt to explain these by detailed analysis of ten countries at the extremes of differences. Methods: Age-standardised incidence rates (ASIR) of LOC were obtained from GLOBOCAN 2020 and GBD 2019. Five countries with the greatest and smallest fold differences were selected. A systematic search of PubMed and Embase electronic databases was then performed to identify publications reporting the incidence of LOC in the selected countries between 2015 and 2022. Specifically, data sources of the articles were examined and evaluated. Findings: For LOC, greatest differences were found in Papua New Guinea, Vietnam, China, Pakistan, and Indonesia (group A). In contrast, the United States of America (USA), Brazil, France, Germany, and India (group B) had the least differences between the two databases. Interpretation: It is not surprising that when GLOBOCAN and GBD could not obtain high-quality or accessible LOC data from national or local cancer registries, as in group A, discrepancies would be seen between the two online databases. In contrast, where only minor differences were seen between GLOBOCAN and GBD, as in group B, presumptively due to those countries having well-established cancer registries and healthcare administrative systems, the literature is more consistent. Moreover, many studies have grouped lip and oral cavity with pharynx and categorised outputs as "oral and oropharyngeal cancer" or "oral cavity and pharynx cancer". Those categorisations lacked subsite accuracy and failed to realise that oral cancer and oropharyngeal cancer have completely different etiological factors, pathogeneses, prognosis, and treatment outcomes. Funding: This research received no specific grant or funding from any funding agency in the public, commercial, or not-for-profit sectors, and the authors received no financial support for the research, authorship, and/or publication of this article.

RESUMEN

Objective: Acute type A aortic dissection (ATAAD) is a surgical emergency with significant morbidity and mortality, as well as significant center-level variation in outcomes. Our study aims to leverage a nationally representative database to assess contemporary in-hospital outcomes in surgical repair of ATAAD, as well as the association of age and sex with outcomes. Methods: The National Inpatient Sample was queried to identify hospital discharge records of patients aged ≥18 years who underwent urgent surgical repair of ATAAD between 2017 and 2018. Patients with a diagnosis of thoracic aortic dissection, who underwent surgical intervention of the ascending aorta, were identified. Patient demographics were assessed, and predictors of in-hospital mortality were identified. Results: We identified 7805 weighted cases of surgically repaired ATAAD nationally, with an overall mortality of 15.3%. Mean age was 60.0 ± 13.6 years. There was a male predominance, although female subjects made up a larger proportion of older age groups-female subjects up 18.4% of patients younger than 40 years with ATAAD but 53.6% of patients older than 80 years. In multivariable analysis controlling for sex, race, comorbidities, and malperfusion, age was a significant predictor of mortality. Patients aged 71 to 80 years had a 5.3-fold increased risk of mortality compared with patients ≤40 years old (P < .001), and patients aged >80 years had a 6.8-fold increased risk of mortality (P < .001). Sex was not significantly associated with mortality. Conclusions: Surgical repair of ATAAD continues to carry high risk of morbidity and mortality, with outcomes impacted significantly by patient age, regardless of patient comorbidity burden.

RESUMEN

Background: Autosomal recessive Gaucher disease (GD) is likely underdiagnosed in many countries. Because the number of diagnosed GD patients in Finland is relatively low, and the true prevalence is currently not known, it was hypothesized that undiagnosed GD patients may exist in Finland. Our previous study demonstrated the applicability of Gaucher Earlier Diagnosis Consensus point-scoring system (GED-C PSS; Mehta et al., 2019) and Finnish biobank data and specimens in the automated point scoring of large populations. An indicative point-score range for Finnish GD patients was determined, but undiagnosed patients were not identified partly due to high number of high-score subjects in combination with a lack of suitable samples for diagnostics in the assessed biobank population. The current study extended the screening to another biobank and evaluated the feasibility of utilising the automated GED-C PSS in conjunction with small nucleotide polymorphism (SNP) chip genotype data from the FinnGen study of biobank sample donors in the identification of undiagnosed GD patients in Finland. Furthermore, the applicability of FFPE tissues and DNA restoration in the next-generation sequencing (NGS) of the GBA gene were tested. Methods: Previously diagnosed Finnish GD patients eligible to the study, and up to 45,100 sample donors in Helsinki Biobank (HBB) were point scored. The GED-C point scoring, adjusted to local data, was automated, but also partly manually verified for GD patients. The SNP chip genotype data for rare GBA variants was visually assessed. FFPE tissues of GD patients were obtained from HBB and Biobank Borealis of Northern Finland (BB). Results: Three previously diagnosed GD patients and one patient previously treated for GD-related features were included. A genetic diagnosis was confirmed for the patient treated for GD-related features. The GED-C point score of the GD patients was 12.5-22.5 in the current study. The score in eight Finnish GD patients of the previous and the current study is thus 6-22.5 points per patient. In the automated point scoring of the HBB subpopulation (N ≈ 45,100), the overall scores ranged from 0 to 17.5, with 0.77% (346/45,100) of the subjects having ≥10 points. The analysis of SNP chip genotype data was able to identify the diagnosed GD patients, but potential undiagnosed patients with the GED-C score and/or the GBA genotype indicative of GD were not discovered. Restoration of the FFPE tissue DNA improved the quality of the GBA NGS, and pathogenic GBA variants were confirmed in five out of six unrestored and in all four restored FFPE DNA samples. Discussion: These findings imply that the prevalence of diagnosed patients (~1:325,000) may indeed correspond the true prevalence of GD in Finland. The SNP chip genotype data is a valuable tool that complements the screening with the GED-C PSS, especially if the genotyping pipeline is tuned for rare variants. These proof-of-concept biobank tools can be adapted to other rare genetic diseases.

RESUMEN

Objective: Isolated coronary artery bypass grafting and aortic valve replacement are common cardiac operations performed in the United States and serve as platforms for benchmarking. The present national study characterized hospital-level variation in costs and value for coronary artery bypass grafting and aortic valve replacement. Methods: Adults undergoing elective, isolated coronary artery bypass grafting or aortic valve replacement were identified in the 2016-2018 Nationwide Readmissions Database. Center quality was defined by the proportion of patients without an adverse outcome (death, stroke, respiratory failure, pneumonia, sepsis, acute kidney injury, and reoperation). High-value hospitals were defined as those with observed-to-expected ratios less than 1 for costs and greater than 1 for quality, whereas the converse defined low-value centers. Results: Of 318,194 patients meeting study criteria, 71.9% underwent isolated coronary artery bypass grafting and 28.1% underwent aortic valve replacement. Variation in hospital-level costs was evident, with median center-level cost of $36,400 (interquartile range, 29,500-46,700) for isolated coronary artery bypass grafting and $38,400 (interquartile range, 32,300-47,700) for aortic valve replacement. Observed-to-expected ratios for quality ranged from 0.2 to 10.9 for isolated coronary artery bypass grafting and 0.1 to 11.7 for isolated aortic valve replacement. Hospital factors, including volume and quality, contributed to approximately 9.9% and 11.2% of initial cost variation for isolated coronary artery bypass grafting and aortic valve replacement. High-value centers had greater cardiac surgery operative volume and were more commonly teaching hospitals compared to low-value centers, but had similar patient risk profiles. Conclusions: Significant variation in hospital costs, quality, and value exists for 2 common cardiac operations. Center volume was associated with value and partly accounts for variation in costs. Our findings suggest the need for value-based care paradigms to reduce expenditures and optimize outcomes.

RESUMEN

Background: Although a common challenge for patients and clinicians, there is little population-level evidence on the prevalence of cardiovascular disease (CVD) in individuals diagnosed with potentially curable cancer. Objectives: We investigated CVD rates in patients with common potentially curable malignancies and evaluated the associations between patient and disease characteristics and CVD prevalence. Methods: The study included cancer registry patients diagnosed in England with stage I to III breast cancer, stage I to III colon or rectal cancer, stage I to III prostate cancer, stage I to IIIA non-small-cell lung cancer, stage I to IV diffuse large B-cell lymphoma, and stage I to IV Hodgkin lymphoma from 2013 to 2018. Linked hospital records and national CVD databases were used to identify CVD. The rates of CVD were investigated according to tumor type, and associations between patient and disease characteristics and CVD prevalence were determined. Results: Among the 634,240 patients included, 102,834 (16.2%) had prior CVD. Men, older patients, and those living in deprived areas had higher CVD rates. Prevalence was highest for non-small-cell lung cancer (36.1%) and lowest for breast cancer (7.7%). After adjustment for age, sex, the income domain of the Index of Multiple Deprivation, and Charlson comorbidity index, CVD remained higher in other tumor types compared to breast cancer patients. Conclusions: There is a significant overlap between cancer and CVD burden. It is essential to consider CVD when evaluating national and international treatment patterns and cancer outcomes.

RESUMEN

Background: Increased body mass index (BMI) and metabolic abnormalities are controversial prognostic factors of lung cancer. However, the relationship between metabolic overweight/obesity phenotypes and hospital readmission in patients with lung cancer is rarely reported. Methods: We established a retrospective cohort using the United States (US) Nationwide Readmissions Database (NRD). We included adult patients diagnosed with lung cancer from January 1, 2018 to November 30, 2018 and excluded patients combined with other cancers, pregnancy, died during hospitalization, low body weight, and those with missing data. The cohort was observed for hospital readmission until December 31, 2018. We defined and distinguished four metabolic overweight/obesity phenotypes: metabolically healthy with normal weight (MHNW), metabolically unhealthy with normal weight (MUNW), metabolically healthy with overweight or obesity (MHO), and metabolically unhealthy with overweight or obesity (MUO). The relationship between metabolic overweight/obesity phenotypes and 30-day readmission risk was assessed by multivariable Cox regression analysis. Findings: Of the 115,393 patients included from the NRD 2018 (MHNW [58214, 50.4%], MUNW [44980, 39.0%], MHO [5044, 4.4%], and MUO [7155, 6.2%]), patients with the phenotype MUNW (6531, 14.5%), MHO (771, 15.3%), and MUO (1155, 16.1%) had a higher readmission rate compared to those with MHNW (7901, 13.6%). Compared with patients with the MHNW phenotype, those with the MUNW (hazard ratio [HR], 1.10; 95% CI, 1.06-1.14), MHO (HR, 1.15; 95% CI, 1.07-1.24), and MUO (HR, 1.28; 95% CI, 1.20-1.36) phenotypes had a higher risk of readmission, especially in men, those without surgical intervention, or those aged >60 years. In women, similar results with respect to readmission were observed in people aged >60 years (MUNW [HR, 1.07; 95% CI, 1.01-1.13], MHO [HR, 1.19; 95% CI, 1.06-1.35], and MUO [HR, 1.28; 95% CI, 1.16-1.41]). We also found increased costs for 30-day readmission in patients with MHO (OR, 1.18; 95% CI, 1.07-1.29) and MUO (OR, 1.11; 95% CI, 1.02-1.20). Interpretation: Increased BMI and metabolic abnormalities are independently associated with higher readmission risks in patients with lung cancer, whereas increased BMI also increases the readmission costs. Follow-up and intervention method targeting increased BMI and metabolic abnormalities should be considered for patients with lung cancer. Funding: The National Key Research and Development Program of China (2017YFC1309800).

RESUMEN

Objective: To explore patterns of postconcussion care at a level 1 trauma center. Design: Retrospective cohort study. Setting: U.S. level 1 trauma center and local satellite units. Participants: Patients of any age with a concussion diagnosis that reported to level 1 trauma center and local satellite units between 2016 and 2018 (N=2417). Intervention: Not applicable. Main Outcome Measures: Age, sex, point of entry, rehabilitation referrals, and pre-existing comorbidity diagnosis. Results: Patient age (mean [SD]) significantly differed among points of entry, from youngest to oldest: 26.0 (14.0) years in sports medicine, 29.3 (23.0) years in the emergency department, 34.6 (23.6) years at primary care providers, and 46.0 (19.7) years at specialty care departments. Sex also significantly differed among points of entry; emergency departments reported more men (55.6%), whereas the other points of entry reported more women (59.3%-65.6%). Patients were more likely to receive a referral from sports medicine (odds ratio [OR]unadjusted=75.05, P<.001), primary care providers (ORunadjusted=7.98, P<.001), and specialty care departments (ORunadjusted=7.62, P<.001) than from the emergency department. Women were more likely to receive a referral (ORunadjusted=1.92, P<.0001), regardless of point of entry. Lastly, patients with a preexisting comorbidity were more likely (ORadjusted=2.12, P<.001) to get a rehabilitation referral than patients without a comorbidity. Conclusions: Point of entry, age, sex, and preexisting comorbidities are associated with postconcussion care rehabilitation referral patterns. Improving concussion education dissemination across all entry points of a level 1 trauma center may standardize the postconcussion rehabilitation referral patterns, potentially improving the time to recovery from a concussion.

RESUMEN

As clinical trial complexity has increased over the past decade, using electronic methods to simplify recruitment and data management have been investigated. In this study, the Optum Digital Research Network (DRN) has demonstrated the use of electronic source (eSource) data to ease subject identification, recruitment burden, and used data extracted from electronic health records (EHR) to load to an electronic data capture (EDC) system. This study utilized electronic Informed Consent, electronic patient reported outcomes (SF-12) and included three sites using 3 different EHR systems. Patients with type 2 diabetes with an HbA1c ≥ 7.0% treated with metformin monotherapy were recruited. Endpoints consisted of changes in HbA1c, medications, and quality of life measures over 12-weeks of study participation using data from the subjects' eSources listed above. The study began in June of 2020 and the last patient last visit occurred in January of 2021. Forty-eight participants were consented and enrolled. HbA1c was repeated for 33 and ePRO was obtained from all subjects at baseline and 28 at 12-week follow-up. Using eSource data eliminated transcription errors. Medication changes, healthcare encounters and lab results were identified when they occurred in standard clinical practice from the EHR systems. Minimal data transformation and normalization was required. Data for this observational trial where clinical outcomes are available using lab results, diagnoses, and encounters may be achieved via direct access to eSources. This methodology was successful and could be expanded for larger trials and will significantly reduce staff effort and exemplified clinical research as a care option.