47 research outputs found

    Going the Distance Along Dover’s Berry Brook

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    Max Rosenn: An Ideal Appellate

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    Rhabdomyolysis After Laparoscopic Nephrectomy

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    BACKGROUND AND OBJECTIVES: Laparoscopic renal surgery has become a widely applied technique in recent years. The development of postoperative rhabdomyolysis is a known but rare complication of laparoscopic renal surgery. Herein, 4 cases of rhabdomyolysis and a review of the literature are presented with respect to pathogenesis, treatment, and prevention of this dire complication. METHODS: A retrospective review of over 600 laparoscopic renal operations over the past 8 years was performed. All cases of postoperative rhabdomyolysis were identified. A Medline search was performed to find articles related to the development of postoperative rhabdomyolysis. Cases of rhabdomyolysis developing after laparoscopic renal surgery and common risk factors between cases were identified. RESULTS: The incidence of postoperative rhabdomyolysis in our series is 0.67%. It is similar to the rate reported in other series. Male sex, high body mass index, prolonged operative times, and the lateral decubitus position are all risk factors in its development. CONCLUSION: The prevention and optimal management of postoperative rhabdomyolysis following laparoscopic renal surgery has yet to be defined. The risk factors we identified should be carefully addressed and minimized. A better understanding of the pathogenesis of rhabdomyolysis will also be a key component in its prevention

    The History of Urological Care and Training at Thomas Jefferson University

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    The Department of Urology at Thomas Jefferson University and Thomas Jefferson University Hospital is generally acknowledged as the oldest formal Department of Urology in the US, formally designated as the Department of Genitourinary Surgery in 1904. The Department has been under the direction of 8 chairmen and has trained over 144 residents and 25 fellows with over 200 Jefferson Medical College graduates specializing in urology. Thomas Jefferson University was originally founded as Jefferson Medical College in 1824. Dr. George McClelland petitioned Jefferson College at Cannonsburg (now Washington and Jefferson College) to add a medical school to their institution. While technically part of Jefferson College in western Pennsylvania, Jefferson Medical College was to be located in Philadelphia under the direction of the medical faculty. By 1838, Jefferson Medical College gained its own charter and was no longer affiliated with Jefferson College. As a proprietary school, the faculty administrated and managed all the finances of the school. This included the sale of “tickets” to attend lectures. An infirmary to treat the poor was established in 1825. This dispensary to treat indigent patients under student observation was the first instituted by any medical school in the United States. Eventually, all medical schools in the United States adopted Jefferson’s example of combining lectures with practical patient experience. In 1969 Thomas Jefferson University was established that incorporated Jefferson Medical College, the College of Allied Health Sciences, the College of Graduate Studies and the Jefferson Medical College Hospital

    The era of reference genomes in conservation genomics

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    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

    How genomics can help biodiversity conservation

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    The availability of public genomic resources can greatly assist biodiversity assessment, conservation, and restoration efforts by providing evidence for scientifically informed management decisions. Here we survey the main approaches and applications in biodiversity and conservation genomics, considering practical factors, such as cost, time, prerequisite skills, and current shortcomings of applications. Most approaches perform best in combination with reference genomes from the target species or closely related species. We review case studies to illustrate how reference genomes can facilitate biodiversity research and conservation across the tree of life. We conclude that the time is ripe to view reference genomes as fundamental resources and to integrate their use as a best practice in conservation genomics.info:eu-repo/semantics/publishedVersio

    The era of reference genomes in conservation genomics

    Get PDF
    info:eu-repo/semantics/publishedVersio

    The era of reference genomes in conservation genomics

    Get PDF
    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

    Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

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    Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)
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