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

Near complete response to Pembrolizumab in microsatellite-stable metastatic sebaceous carcinoma

Abstract Background Sebaceous carcinoma is an aggressive adnexal skin tumor with a predilection for the eyelids and sebaceous glands of the head and neck. Case presentation A 73 year-old man presented with confusion and was found to have widely disseminated sebaceous carcinoma with metastases to brain, lungs, liver, bowel, lymph nodes, and bone. Following initial treatment of the brain metastases with surgery he received post-operative radiosurgery. He then began systemic immunotherapy with pembrolizumab. After 6 months, he developed a near complete response to therapy by irRECIST and RECIST v.1.1. The response was associated with circulating CD8+ T cells with central memory (CM) and effector memory (EM) phenotype and mature CD16 + CD57+ NK cells. During treatment the patient developed adrenal insufficiency requiring high-dose systemic corticosteroids and later adrenal replacement therapy. After 12-months of follow-up he showed imaging evidence of progression in liver, mediastinum, and abdominal lymph nodes. Given persistent, strong PD-L1 expression he resumed pembrolizumab therapy and showed radiographic evidence of an ongoing response to therapy. Conclusions This is the first report describing objective clinical and radiographic responses following immunotherapy for widely metastatic sebaceous carcinoma. The dramatic therapeutic response to pembrolizumab was associated with peripheral blood circulating memory T cells and mature Natural Killer cells after 6 months (24 weeks) of therapy. This report supports prospective clinical trials of anti-PD1 checkpoint blockade for metastatic sebaceous carcinoma

COVID-19 Concerns among Physicians who treat cancer survey in the United States, Cross-sectional study March/April 2020

We have provided the survey instrument, data, and the SAS program(s) which generate the calculated variables and statistical analyses as described in the manuscript(s). A. Filename: COVID19_us_oncologist_survey_data3.csv Short description: Data set B. Filename: COVID19AndOncologistsSurvey_REDCapSurvey.pdf Short Description: PDF of survey as presented to participants in REDCap online C. Filename: Covid19_oncologist_analysis_emot_health_final_UPLOAD.sas Short Description: SAS code (9.4) to generate variables and statistical analysis for Thomaier et al., 2020. NOTE: Variables dem_1, dem_3, dem_4, dem_5, and dem_17 have been removed from this public version of the dataset to protect participant privacy. These correspond to age, transgender status, race, ethnicity, and state of residence/practice. To obtain a complete raw dataset, please contact the lead investigator to be vetted for access to that data.Cross-sectional anonymous online survey among physicians treating individuals with cancer in the United States during the initial phase of the COVID-19 pandemic (March 27, 2020 – April 10, 2020). Recruitment: Snowball convenience sampling through social media (Twitter, Facebook, LinkedIn). Eligibility criteria: ≥18 years, able to read/write in English, and being a physician (MD or DO) currently residing and providing cancer treatment in the United States. Data collected and stored in REDCap.This research was supported in part by the National Institutes of Health’s National Center for Advancing Translational Sciences, grant UL1TR002494 as well as the National Cancer Institute P30 Cancer Center Support Grant, grant CA77598. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health’s National Center for Advancing Translational Sciences or the National Cancer Institute

Emotional health concerns of oncology physicians in the United States: Fallout during the COVID-19 pandemic.

IntroductionCancer care is significantly impacted by the Coronavirus Disease 2019 (COVID-19) pandemic. Our objective was to evaluate the early effects of the pandemic on the emotional well-being of oncology providers across the United States and explore factors associated with anxiety and depression symptoms.Materials and methodsA cross-sectional survey was administered to United States cancer-care physicians recruited over a two-week period (3/27/2020-4/10/2020) using snowball-convenience sampling through social media. Symptoms of anxiety and depression were measured using the Patient Health Questionnaire (PHQ-4).ResultsOf 486 participants, 374 (77.0%) completed the PHQ-4: median age was 43 years; 63.2% female; all oncologic specialties were represented. The rates of anxiety and depression symptoms were 62.0% and 23.5%, respectively. Demographic factors associated with anxiety included female sex, younger age, and less time in clinical practice. Perception of inadequate personal protective equipment (68.6% vs. 57.4%, p = 0.03) and practicing in a state with more COVID-19 cases (65.8% vs. 51.1%, p = 0.01) were associated with anxiety symptoms. Factors significantly associated with both anxiety and depression included the degree to which COVID-19 has interfered with the ability to provide treatment to cancer patients and concern that patients will not receive the level of care needed for non-COVID-19 illness (all p-values ConclusionThe perceived degree of interference with clinical practice along with personal concerns about COVID-19 were significantly associated with both anxiety and depression among oncology physicians in the United States during the COVID-19 pandemic. Our findings highlight factors associated with and sources of psychological distress to be addressed to protect the well-being of oncology physicians

Additional file 1 of Near complete response to Pembrolizumab in microsatellite-stable metastatic sebaceous carcinoma

: Figure S1. Coronal and axial contrast enhanced CT-images were obtained at 13 months and shows mediastinal and liver recurrence. Repeat imaging at 15 months shows increased size of the mediastinal lesion (top row), and decreased size of the hepatic lesion (bottom row), suggesting mixed immune related responses and pseudoprogression. (DOCX 600 kb

Observation of enhanced monopole strength and clustering in Be 12

In a recent breakup-reaction experiment using a Be12 beam at 29MeV/nucleon, the 0+ band head of the expected He4+He8 molecular rotation was clearly identified at about 10.3 MeV, from which a large monopole matrix element of 7.0±1.0fm2 and a large cluster-decay width were determined for the first time. These findings support the picture of strong clustering in Be12, which has been a subject of intense investigations over the past decade. The results were obtained thanks to a specially arranged detection system around zero degrees, which is essential in determining the newly emphasized monopole strengths to signal the cluster formation in a nucleus. © 2014 American Physical Society.link_to_subscribed_fulltex