10 research outputs found

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    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

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    Early loss of the glucagon response to hypoglycemia in adolescents with type 1 diabetes

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    Objective: To assess the glucagon response to hypoglycemia and identify influencing factors in patients with type 1 diabetes compared with nondiabetic control subjects. Research Design and Methods: Hyperinsulinemic hypoglycemic clamp studies were performed in all participants. The glucagon response to both hypoglycemia and arginine was measured, as well as epinephrine, cortisol, and growth hormone responses to hypoglycemia. Residual β-cell function was assessed using fasting and stimulated C-peptide. Results: Twenty-eight nonobese adolescents with type 1 diabetes (14 female, mean age 14.9 years [range 11.2–19.8]) and 12 healthy control subjects (6 female, 15.3 years [12.8–18.7]) participated in the study. Median duration of type 1 diabetes was 0.66 years (range 0.01–9.9). The glucagon peak to arginine stimulation was similar between groups (P = 0.27). In contrast, the glucagon peak to hypoglycemia was reduced in the group with diabetes (95% CI): 68 (62–74) vs. 96 (87–115) pg/mL (P \u3c 0.001). This response was greater than 3 SDs from baseline for only 7% of subjects with type 1 diabetes in comparison with 83% of control subjects and was lost at a median duration of diabetes of 8 months and as early as 1 month after diagnosis (R = −0.41, P \u3c 0.01). There was no correlation in response with height, weight, BMI, and HbA1c. Epinephrine, cortisol, and growth hormone responses to hypoglycemia were present in both groups. Conclusions: The glucagon response to hypoglycemia in adolescents with type 1 diabetes is influenced by the duration of diabetes and can be lost early in the course of the disease

    A financial plot to reduce the burden of medical school tuition fees

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    Tuition fees for medical school are continuously and riotously increasing. This upsurge is amassing debts on the backs of students. In the class of 2018, 75% finished medical school with an outstanding balance of 196,520,onaverage−a196,520, on average-a 5826 increase from 2017. Tuition fees differ in terms of the ownership of the medical school (public vs. private) and according to the medical student residence status (in-state or out-of-state). It is critical that students arrange a long-term budget that shows them where they stand: in surplus or in deficit. Students may classify expenditures into two groups: fixed and variable, where they can manipulate the variable expenses to fit into their budget. To pay for their tuition, medical students have four possibilities: cash, scholarships and grants, service-obligation scholarships, and loans. Loans are the most common alternatives, and so there are Traditional Repayment Plans and Income-Driven Repayment Plans. This article serves to provide medical students with attainable alternatives for funding their education and for repaying their debts

    The relationship between overactive bladder and sexual activity in women

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    Purpose: We assessed the relationships between bladder symptoms, demographic, and medical history variables and sexual dysfunction in women with overactive bladder (OAB) disorder. Materials and methods: Seventy-eight women diagnosed with OAB completed self-administered questionnaires related to overall heath status, bladder function, and sexual function. Data were compiled for questionnaire responses, and multivariate logistic regression analyses were performed to determine predictors of sexual dysfunction. Results: Bothersome bladder symptoms were reported by ≥ 60% of the sample. Sixty-percent of the sample was sexually active in the past month. Difficulty with sexual arousal, orgasm, and sexual enjoyment were reported by about 25% of the women. Sexual partner status was the best predictor of sexual arousal, orgasm, and sexual enjoyment. Menopausal status emerged as an important predictor of arousal and sexual enjoyment. Conclusion: The majority of women with symptoms of OAB viewed these symptoms as bothersome. However, the extent of symptom bother did not predict aspects of female sexual dysfunction (FSD). Instead, menopausal and partner status emerged as the best predictors of FSD in our sample

    Next-generation phenomics for the Tree of Life

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    The phenotype represents a critical interface between the genome and the envi-ronment in which organismslive and evolve. Phenotypic characters also are a rich source of biodiversity data for tree-building, and theyenable scientists to reconstruct the evolu-tionary history of organisms, including most fossil taxa, for whichgenetic data are unavail-able. Therefore, phenotypic data are necessary for building a comprehensive Tree ofLife. In contrast to recent advances in molecular sequencing, which has become faster and cheaper throughrecent technological advances, phenotypic data collection remains often prohibi-tively slow and expensive. Thenext-generation phenomics project is a collaborative, multidisciplinary effort to leverage advances in imageanalysis, crowdsourcing, and natural language processing to develop and implement novel approaches fordiscovering and scor-ing the phenome, the collection of phentotypic characters for a species. This research represents a new approach to data collection that has the potential to transform phylogenetics research and toenable rapid advances in constructing the Tree of Life. Our goal is to as-semble large phenomic datasets builtusing new methods and to provide the public and sci-entific community with tools for phenomic data assemblythat will enable rapid and auto-mated study of phenotypes across the Tree of Life
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