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

A Case of Bedside Ultrasound in COVID-19 to Prognosticate Functional Lung Recovery

. The fight against COVID-19 poses questions as to the clinical presentation, course, diagnosis, and treatment of the condition. This case study presents a patient infected with COVID-19 and suggests with additional research, that bedside ultrasound may be used to diagnose severity of disease and potentially, prognosticate functional lung recovery without using unnecessary resources and exposing additional healthcare professionals to infection. . A 46-year-old male presented to the emergency department (ED) with cough, fever, and shortness of breath. Chest X-ray showed patchy airspace opacities bilaterally. Rapid testing resulted positive for SARS-CoV-2. Bedside ultrasound showed abnormal lung parenchyma, with diffuse comet tail artifacts, consistent with interstitial pulmonary edema. Following a prolonged intubation, patient\u27s abnormal lung ultrasound findings are resolved

Appropriate Evaluation of Psychiatric Patients Highlighted by Creutzfeldt-Jakob Disease: A Case Report.

INTRODUCTION: Determination of medical stability for patients presenting with psychiatric complaints is common for emergency clinicians. A thorough history and physical examination is important. CASE REPORT: A 53-year-old male presented to the emergency department (ED) with depression, suicidal ideation, and decline in activities of daily living over six months. While his initial neurologic examination was non-focal, subsequent re-evaluations demonstrated significant changes, and he was ultimately diagnosed with Creutzfeldt-Jakob disease. CONCLUSION: This case demonstrates how a detailed history of the present illness could have led to a more accurate and timely medical disposition from the ED

ACS Spring Kick-off Meeting

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