22 research outputs found

    Finishing the euchromatic sequence of the human genome

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    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

    Psychiatric comorbidities on an inpatient dermatology consultation service: A cross‐sectional analysis

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    Abstract Despite the high prevalence of psychiatric illness in hospitalised dermatology patients, characterisation of psychiatric comorbidities on an inpatient dermatology consultation service in the United States has yet to be performed. To fill this gap in knowledge, we investigated the prevalence of and factors associated with psychiatric illness on the inpatient dermatology consultation service at the University of Southern California. Of the 429 patients seen by the dermatology consultation service between June 2021 to July 2022, 147 (34%) had psychiatric illness (defined as having at least 1 psychiatric diagnosis). Increasing age was associated with a decreased likelihood of psychiatric illness, while housing instability, chronic dermatologic disease, drug reaction, and pruritus without rash were associated with an increased likelihood of psychiatric illness. The high prevalence of psychiatric illness observed in hospitalised dermatology patients emphasises the importance of collaboration between consultant dermatologists and mental health specialists, particularly when specific sociodemographic or disease factors are present

    The genome organization of <i>Neurospora crassa</i> at high resolution uncovers principles of fungal chromosome topology

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    AbstractThe eukaryotic genome must be precisely organized for its proper function, as genome topology impacts transcriptional regulation, cell division, replication, and repair, among other essential processes. Disruptions to human genome topology can lead to diseases, including cancer. The advent of chromosome conformation capture with high-throughput sequencing (Hi-C) to assess genome organization has revolutionized the study of nuclear genome topology; Hi-C has elucidated numerous genomic structures, including chromosomal territories, active/silent chromatin compartments, Topologically Associated Domains, and chromatin loops. While low-resolution heatmaps can provide important insights into chromosomal level contacts, high-resolution Hi-C datasets are required to reveal folding principles of individual genes. Of particular interest are high-resolution chromosome conformation datasets of organisms modeling the human genome. Here, we report the genome topology of the fungal model organism Neurospora crassaDpnMseDpnMs

    Treatments for Dissecting Cellulitis of the Scalp: A Systematic Review and Treatment Algorithm

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    Abstract Background Dissecting cellulitis of the scalp (DCS) is a chronic inflammatory skin condition characterized by abscesses, nodules, fistulas, and scarring alopecia. Management of this oftentimes debilitating dermatosis can be challenging due to its recalcitrant nature. There is limited data regarding the efficacy of treatment options for DCS. Objective The aim of this study was to conduct a systematic review of the literature to explore the efficacy and safety of reported DCS treatments. Methods In October 2022, MEDLINE and EMBASE databases were searched for articles on treatments for DCS. Studies that contained outcome efficacy data for DCS treatments were included. Reviews, conference abstracts, meta-analyses, commentaries, non-relevant articles, and articles with no full-text available were excluded. Data extraction was performed by two independent reviewers. Results A total of 110 relevant articles with 417 patients were identified. A majority of studies (86.4%) were case reports or series. Treatment options included systemic antibiotics, oral retinoids, biologics, procedural treatments, combination agents, and topical treatments. Oral retinoids and photodynamic therapy were the most extensively studied medical and procedural interventions, respectively. Conclusion Overall, randomized controlled trials are needed to evaluate various treatment regimens for DCS and provide patients with a robust, evidence-based approach to therapy
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