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

Indicators to ensure treatment initiation of all diagnosed sputum positive pulmonary tuberculosis patients under tuberculosis control programme in India

Background: Pretreatment loss to follow-up (PTLFU) is used as performance indicator of Revised National Tuberculosis Control Programme (RNTCP) of India. Objective: To document the PTLFU, identify additional indicators and examine documentation of all the diagnosed sputum positive pulmonary tuberculosis (PTB) patients under RNTCP. Methodology: Tuberculosis (TB) laboratory, referral for treatment registers, and referral forms were perused for information on sputum positive PTB patients diagnosed from January to June 2014, in 3 TB Units in Chennai. Results: PTLFU was 24% (572 out of 2361). However, in pursuance with the principle of ensuring that all diagnosed patients must be started on treatment following referral, it was inflated to 44% (1046 out of 2361). Conclusion: The existing PTLFU indicator does not reflect the proportion of treatment initiation of all diagnosed smear-positive PTB patients. We propose additional indicators for monitoring referral and treatment initiation of all diagnosed sputum positive PTB patients

Use of the Vectra Polyetherurethaneurea Graft for Dialysis Access in HIV-Positive Patients With End-Stage Renal Disease

The primary objective of this study was to establish the safety, efficacy, infection rate, and patency of the Vectra graft (polyetherurethaneurea) for dialysis access in patients diagnosed with human immunodeficiency virus (HIV) and end-stage renal disease. The Vectra graft has a unique self-sealing property; therefore we hypothesize that these patients will have fewer infections. A Vectra graft was implanted in 30 consecutive HIV-positive patients without sufficient veins for an autologous fistula. These surgeries were carried out over a 2.5-year period. Primary graft patency was 42% at 12 months and 3 (10%) of the grafts developed infection. This rate of graft infection was less (10% vs 45%) than both our prior experience and published reports using polytetrafluorothene bridge grafts. The unique self-sealing property of the Vectra graft minimizes the development of perigraft hematoma with repetitive needle cannulation and in the immunosuppressed HIV-positive patient, may account for the observed decrease in dialysis access infection

Intestinal Infarction and Portal Vein Thrombosis in a Patient with Henoch Schonlein Purpura

Henoch Schonlein purpura is a systemic vasculitis that commonly affects children and teenagers but also affects adults of all ages. In most instances it has a benign course. Organ involvement, particularly in adults, and notably the kidneys and gastrointestinal tract may require therapeutic intervention and may have a less favorable outcome. We report a case of a 58-year-old man who presented with purpura and who rapidly developed catastrophic intestinal vasculitis, leading to his demise

Optimizing Scarce Resource Allocation During COVID-19: Rapid Creation of a Regional Health-Care Coalition and Triage Teams in San Diego County, California.

Successful management of an event where health-care needs exceed regional health-care capacity requires coordinated strategies for scarce resource allocation. Publications for rapid development, training, and coordination of regional hospital triage teams to manage the allocation of scarce resources during coronavirus disease 2019 (COVID-19) are lacking. Over a period of 3 weeks, over 100 clinicians, ethicists, leaders, and public health authorities convened virtually to achieve consensus on how best to save the most lives possible and share resources. This is referred to as population-based crisis management. The rapid regionalization of 22 acute care hospitals across 4500 square miles in the midst of a pandemic with a shifting regulatory landscape was challenging, but overcome by mutual trust, transparency, and confidence in the public health authority. Because many cities are facing COVID-19 surges, we share a process for successful rapid formation of health-care care coalitions, Crisis Standard of Care, and training of Triage Teams. Incorporation of continuous process improvement and methods for communication is essential for successful implementation. Use of our regional health-care coalition communications, incident command system, and the crisis care committee helped mitigate crisis care in the San Diego and Imperial County region as COVID-19 cases surged and scarce resource collaborative decisions were required

Resistance Profiles to Second-Line Anti-Tuberculosis Drugs and Their Treatment Outcomes: A Three-Year Retrospective Analysis from South India

Background: Patients with first-line drug resistance (DR) to rifampicin (RIF) or isoniazid (INH) as a first-line (FL) line probe assay (LPA) were subjected to genotypic DST using second-line (SL) LPA to identify SL-DR (including pre-XDR) under the National TB Elimination Program (NTEP), India. SL-DR patients were initiated on different DR-TB treatment regimens and monitored for their outcomes. The objective of this retrospective analysis was to understand the mutation profile and treatment outcomes of SL-DR patients. Materials and Methods: A retrospective analysis of mutation profile, treatment regimen, and treatment outcome was performed for SL-DR patients who were tested at ICMR-NIRT, Supra-National Reference Laboratory, Chennai between the years 2018 and 2020. All information, including patient demographics and treatment outcomes, was extracted from the NTEP Ni-kshay database. Results: Between 2018 and 2020, 217 patients out of 2557 samples tested were identified with SL-DR by SL-LPA. Among them, 158/217 were FQ-resistant, 34/217 were SLID-resistant, and 25/217 were resistant to both. D94G (Mut3C) of gyrA and a1401g of rrs were the most predominant mutations in the FQ and SLID resistance types, respectively. Favorable (cured and treatment complete) and unfavorable outcomes (died, lost to follow up, treatment failed, and treatment regimen changed) were recorded in a total of 82/217 and 68/217 patients in the NTEP Ni-kshay database. Conclusions: As per the testing algorithm, SL- LPA is used for genotypic DST following identification of first-line resistance, for early detection of SL-DR in India. The fluoroquinolone resistance pattern seen in this study population corelates with the global trend. Early detection of fluoroquinolone resistance and monitoring of treatment outcome can help achieve better patient management

Resource-poor settings: infrastructure and capacity building: care of the critically ill and injured during pandemics and disasters: CHEST consensus statement

BACKGROUND: Planning for mass critical care (MCC) in resource-poor or constrained settings has been largely ignored, despite their large populations that are prone to suffer disproportionately from natural disasters. Addressing MCC in these settings has the potential to help vast numbers of people and also to inform planning for better-resourced areas. METHODS: The Resource-Poor Settings panel developed five key question domains; defining the term resource poor and using the traditional phases of disaster (mitigation/preparedness/response/recovery), literature searches were conducted to identify evidence on which to answer the key questions in these areas. Given a lack of data upon which to develop evidence-based recommendations, expert-opinion suggestions were developed, and consensus was achieved using a modified Delphi process. RESULTS: The five key questions were then separated as follows: definition, infrastructure and capacity building, resources, response, and reconstitution/recovery of host nation critical care capabilities and research. Addressing these questions led the panel to offer 33 suggestions. Because of the large number of suggestions, the results have been separated into two sections: part 1, Infrastructure/Capacity in this article, and part 2, Response/Recovery/Research in the accompanying article. CONCLUSIONS: Lack of, or presence of, rudimentary ICU resources and limited capacity to enhance services further challenge resource-poor and constrained settings. Hence, capacity building entails preventative strategies and strengthening of primary health services. Assistance from other countries and organizations is needed to mount a surge response. Moreover, planning should include when to disengage and how the host nation can provide capacity beyond the mass casualty care event