Point-of-Care Ultrasound in the Emergency Department

Point-of-care ultrasound (POCUS) is a useful diagnostic tool and has become an integral part of the care provided in the Emergency Department. It has evolved over the past two decades to include diagnostic and therapeutic skills. POCUS helps emergency physicians improve their diagnostic accuracy and provide better overall patient care. This chapter will summarize 13 core POCUS applications that are considered within the diagnostic armamentarium of all emergency physicians

Bromoform and dibromochloromethane

Prepared by Syracuse Research Corporation under contract no. 205-1999-00024 for U.S. Department of Health and Human Services, Public Health Service, Agency for Toxic Substances and Disease Registry.Chemical manager(s)/author(s): John Risher, Dennis Jones, ATSDR, Division of Toxicology, Atlanta, Georgia; Michael H. Lumpkin,.Lisa Ingerman, Daniel Plewak, Lori Moilanen, Dolores Beblo, Jennifer Walters, Syracuse Research Corporation, North Syracuse, New York. - P. ix."A toxicological profile for bromoform and dibromochloromethane, draft for public comment was released in September 2003. This edition supersedes any previously released draft or final profile"--P. iii."This toxicological profile is prepared in accordance with guidelines developed by the Agency for Toxic Substances and Disease Registry (ATSDR) and the Environmental Protection Agency (EPA). The original guidelines were published in the Federal Register on April 17, 1987"--P. v.Includes bibliographical references (p. 171-216) and index.2005205-1999-0002

Coenzyme Q10 deficiencies: a group of potentially treatable mitochondrial diseases

Treballs Finals de Grau de Farmàcia, Facultat de Farmàcia i Ciències de l'Alimentació, Universitat de Barcelona, 2020. Tutor/a: Montero Sánchez, Raquel[eng] The main objective of the present project is to critically review the current state of knowledge on a group of mitochondrial disorders known as coenzyme Q10 (CoQ) deficiencies. It has been developed thanks to a deep bibliographic research, using an on-line biomedical database in order to search and select the most recent and relevant articles in this field of study. The project highlights the central role of CoQ in the mitochondrial respiratory chain, but also its involvement in several aspects of cellular metabolism. Given its essential functions, this study also describes how a deficit in this molecule leads to a number of disorders with an unexplained heterogeneous clinical spectrum. In this regard, CoQ deficiencies can occur due to defects of CoQ biosynthesis (primary deficiencies) or due to other causes (secondary forms). In addition, this piece of work emphasizes how biochemical measurements in the patient’s tissues or biological fluids and genetic testing play a crucial role in the diagnostic pathway. A reviewed and updated protocol for the biochemical determination of CoQ status in different specimens is proposed. Finally, this project also states that early diagnosis and initiation of specific treatment is of paramount importance, especially as some CoQ-deficient patients respond well to CoQ supplementation. In conclusion, the study suggests that, despite the advances in the last decades, further elucidation of the biochemistry and genetics of these complex diseases is needed to set the stage for improving the care of patients and the development of novel treatments.[cat] Deficiències de coenzim Q10: un grup de malalties mitocondrials potencialment tractables. El principal objectiu d’aquest treball final de grau és revisar d’una forma crítica el coneixement actual sobre un grup de malalties mitocondrials conegut com a deficiències de coenzim Q10 (CoQ). Ha estat redactat gràcies a una minuciosa recerca bibliogràfica, emprant una base de dades biomèdica on-line per tal de cercar i seleccionar els articles més recents i rellevants en aquest camp. Aquest projecte posa de manifest el rol fonamental del CoQ en la cadena respiratòria mitocondrial, però també la seva participació en un gran nombre de processos del metabolisme cel·lular. Donada la rellevància de les seves funcions, aquest estudi també descriu com el dèficit d’aquesta molècula condueix a un grup de malalties amb una espectre clínic molt heterogeni. En aquest sentit, les deficiències de CoQ poden ser degudes a defectes en la biosíntesi de CoQ (deficiències primàries) o a altres causes (formes secundàries). A més, el treball remarca el paper crucial de les determinacions bioquímiques de CoQ en teixits i fluids biològics, així com el de les proves genètiques, en el procés diagnòstic. També es proposa un protocol actualitzat per a la determinació bioquímica de CoQ en diferents espècimens biològics. Finalment, s’assenyala que el diagnòstic i l’inici del tractament primerencs són de vital importància donat que alguns pacients responen bé a la suplementació amb CoQ. Com a conclusió, el projecte suggereix que, malgrat els avenços de les últimes dècades, és necessari aprofundir en l’estudi dels aspectes bioquímics i genètics d’aquestes malalties per tal de poder millorar la cura dels pacients i desenvolupar noves teràpies

Addendum to the Toxicological profile for trichloroethylene

cdc:6304This addendum to the Toxicological Profile for Trichloroethylene supplements the profile that was released in 1997.Toxicological profiles are developed in response to the Superfund Amendments and Reauthorization Act (SARA) of 1986 which amended the Comprehensive Environmental Response, Compensation, and Liability Act of 1980 (CERCLA or Superfund). CERCLA mandates that the Administrator of ATSDR prepare toxicological profiles on substances on the CERCLA Priority List of Hazardous Substances and that the profiles be revised \u201cno less often than once every three years\u201d. CERCLA further states that the Administrator will \u201cestablish and maintain inventory of literature, research, and studies on the health effects of toxic substances\u201d [Title 42, Chapter 103, Subchapter I, \ua7 9604 (i)(1)(B)].The purpose of this addendum is to provide, to the public and federal, state, and local agencies a non-peer reviewed supplement of the scientific data that were published in the open peerreviewed literature since the release of the profile in 1997.Chapter numbers in this addendum coincide with the Toxicological Profile for Trichloroethylene (1997). This document should be used in conjunction with the profile. It does not replace the profile.tce_addendum.pdf2013609

Next-Generation Sequencing for New Gene Identification and for Diagnosis in Steroid-Resistant Nephrotic Syndrome

Nephrotic syndrome is clinically characterized by massive proteinuria, and hypoalbuminemia. It represents a heterogeneous group of glomerular disorders characterized by distinct causes and histopathologic lesions. The present thesis evaluates the contribution of genetics in conditions commonly associated with NS: the immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN), the C3 glomerulopathy (C3G) and the podocytopathies, usually characterized by steroid-resistant nephrotic syndrome (SRNS). The first part of the thesis focused on IC-MPGN and C3G. We found likely pathogenic (LP) variants in complement alternative pathway genes in 18% of patients and describe, for the first time, thrombomodulin rare pathogenic variants in C3G patients. Interestingly, mutations alone did not increase the risk of developing IC-MPGN or C3G, but they did so when combined with common susceptibility variants. The prevalence of alternative pathway abnormalities (mutations and/or C3 Nephritic Factors, C3NeFs) was similar in IC-MPGN (53-56%) and C3G (64-65%). To investigate for more homogeneous subgroups within IC-MPGN/C3G, an operator-independent approach was applied using genetic, biochemical, histological and clinical data. Four different groups emerged showing distinct pathogenesis, and histological and clinical features. In the second part, the genetic causes of podocytopathies were investigated. LP variants in podocytopathy-associated genes are found in 23% of SRNS patients, prevalently in COL4A3-5 genes. Moreover, 8% of patients carried LP variants in Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)-associated genes, which were not previously associated with podocytopathies. LP variants in CAKUT-associated and podocytopathy-associated genes frequently combined together. Finally, possibly pathogenic variants in EPB41L45, a candidate gene for podocytopathies, were identified in 3 unrelated patients. In conclusion, this thesis contributes to understand the complex genetic basis of both IC-MPGN/C3G and podocytopathies. It introduces new players in the pathogenesis of these diseases. Finally, it provides evidence of the presence of subgroups within IC-MPGN/C3G with distinct underlying mechanisms, and clinical and histopathologic features

Big science and big data in nephrology

There have been tremendous advances during the last decade in methods for large-scale, high-throughput data generation and in novel computational approaches to analyze these datasets. These advances have had a profound impact on biomedical research and clinical medicine. The field of genomics is rapidly developing toward single-cell analysis, and major advances in proteomics and metabolomics have been made in recent years. The developments on wearables and electronic health records are poised to change clinical trial design. This rise of ‘big data’ holds the promise to transform not only research progress, but also clinical decision making towards precision medicine. To have a true impact, it requires integrative and multi-disciplinary approaches that blend experimental, clinical and computational expertise across multiple institutions. Cancer research has been at the forefront of the progress in such large-scale initiatives, so-called ‘big science,’ with an emphasis on precision medicine, and various other areas are quickly catching up. Nephrology is arguably lagging behind, and hence these are exciting times to start (or redirect) a research career to leverage these developments in nephrology. In this review, we summarize advances in big data generation, computational analysis, and big science initiatives, with a special focus on applications to nephrology

LABRAD : Vol 41, Issue 3 - December 2015

Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of Histopathology in the Diagnosis of Paediatric Bone and Soft Tissue Small Round Cell Tumours Evaluation of Inborn Errors of Metabolism (IEM) In a Nutshell An Update on Blood Lead Levels in Children Clinical Utility of Immature Platelet Fraction – An advanced 25 Parameter in Laboratory Hematology Meeting Report: “Les Confluences” The Society for the Study 30 of Inborn errors of Metabolism (SSIEM) Annual Symposium 2015 in Lyon, Francehttps://ecommons.aku.edu/labrad/1000/thumbnail.jp