Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Nonparametric Decision Support Systems in Medical Diagnosis: Modeling Pulmonary Embolism

Patients face a multitude of diseases, trauma, and related medical problems that are difficult to diagnose and have large treatment and diagnostic direct costs, including pulmonary embolism (PE), which has mortality rates as high as 10%. Advanced decision-making tools, such as nonparametric neural networks (NN), may improve diagnostic capabilities for these problematic medical conditions. The research develops a backpropagation trained neural network diagnostic model to predict the occurrence of PE. Laboratory database values for 292 patients who were determined to be at risk for PE, with almost 15% suffering a confirmed PE, were collected and used to evaluate various NN models’ performances. Results indicate that using NN diagnostic models enables the leveraging of knowledge gained from standard clinical laboratory tests, specifically the d-dimer assay and reactive glucose, significantly improving overall positive predictive value, compared to using either test in isolation, and also increasing negative predictive performance

Association Between Opioid Use Disorder and Seizure Incidents Among Alcohol Use Disorder Patients

Many previous studies have discussed an association between alcohol use disorder (AUD) and seizure incidents. There are also case reports of seizures during opioid withdrawals. Therefore, it is possible that AUD patients may have a higher risk of seizures if they also have opioid use disorder (OUD). However, it remains unproven whether AUD patients with a dual diagnosis of OUD have higher seizure incidents, to our knowledge. This study explored seizure incidents among the patients with a dual diagnosis of AUD and OUD as well as seizures among AUD only or OUD only patients. This study utilized de-identified data from 30 777 928 hospital inpatient encounters at 948 healthcare systems over 4 years (9/1/2018-8/31/2022) from the Vizient ® Clinical Database for this study. Applying the International Classification of Diseases 10th Revision (ICD-10) diagnostic codes, AUD (1 953 575), OUD (768 982), and seizure (1 209 471) encounters were retrieved from the database to examine the effects of OUD on seizure incidence among AUD patients. This study also stratified patient encounters for demographic factors such as gender, age, and race, as well as the Vizient-categorized primary payer. Greatest gender differences were identified among AUD followed by OUD, and seizure patient groups. The mean age for seizure incidents was 57.6 years, while that of AUD was 54.7 years, and OUD 48.9 years. The greatest proportion of patients in all 3 groups were White, followed by Black, with Medicare being the most common primary payer in all 3 categories. Seizure incidents were statistically more common ( P  < .001, chi-square) in patients with a dual diagnosis of AUD and OUD (8.07%) compared to those with AUD only (7.55%). The patients with the dual diagnosis had a higher odd ratio than those with AUD only or OUD only. These findings across more than 900 health systems provide a greater understanding of seizure risks. Consequently, this information may help in triaging AUD and OUD patients in certain higher-risk demographic groups

Association of Insurance Type With Colorectal Surgery Outcomes and Costs at a Safety-Net Hospital

Objective:. Association of insurance type with colorectal surgical complications, textbook outcomes (TO), and cost in a safety-net hospital (SNH). Background:. SNHs have higher surgical complications and costs compared to low-burden hospitals. How does presentation acuity and insurance type influence colorectal surgical outcomes? Methods:. Retrospective cohort study using single-site National Surgical Quality Improvement Program (2013–2019) with cost data and risk-adjusted by frailty, preoperative serious acute conditions (PASC), case status and open versus laparoscopic to evaluate 30-day reoperations, any complication, Clavien-Dindo IV (CDIV) complications, TO, and hospitalization variable costs. Results:. Cases (Private 252; Medicare 207; Medicaid/Uninsured 619) with patient mean age 55.2 years (SD = 13.4) and 53.1% male. Adjusting for frailty, open abdomen, and urgent/emergent cases, Medicaid/Uninsured patients had higher odds of presenting with PASC (adjusted odds ratio [aOR] = 2.02, 95% confidence interval [CI] = 1.22–3.52, P = 0.009) versus Private. Medicaid/Uninsured (aOR = 1.80, 95% CI = 1.28–2.55, P < 0.001) patients were more likely to undergo urgent/emergent surgeries compared to Private. Medicare patients had increased odds of any and CDIV complications while Medicaid/Uninsured had increased odds of any complication, emergency department or observations stays, and readmissions versus Private. Medicare (aOR = 0.51, 95% CI = 0.33–0.88, P = 0.003) and Medicaid/Uninsured (aOR = 0.43, 95% CI = 0.30–0.60, P < 0.001) patients had lower odds of achieving TO versus Private. Variable cost %change increased in Medicaid/Uninsured patients to 13.94% (P = 0.005) versus Private but was similar after adjusting for case status. Urgent/emergent cases (43.23%, P < 0.001) and any complication (78.34%, P < 0.001) increased %change hospitalization costs. Conclusions:. Decreasing the incidence of urgent/emergent colorectal surgeries, possibly by improving access to care, could have a greater impact on improving clinical outcomes and decreasing costs, especially in Medicaid/Uninsured insurance type patients