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Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience
Conclusion: Lack of complete laboratory evaluation of patients before HCT presents a significant barrier to definitive diagnosis of SCID and related disorders and prevented inclusion of subjects in our observational HCT study. This lesson is critical for patient care, as well as the design of future prospective treatment studies for such children because a well-defined and consistent study population is important for precision in outcomes analysis.
Source: Journal of Allergy and Clinical Immunology - December 2, 2013 Category: Allergy & Immunology Authors: William T. Shearer, Elizabeth Dunn, Luigi D. Notarangelo, Christopher C. Dvorak, Jennifer M. Puck, Brent R. Logan, Linda M. Griffith, Donald B. Kohn, Richard J. O'Reilly, Thomas A. Fleisher, Sung-Yun Pai, Caridad A. Martinez, Rebecca H. Buckley, Morton J. Tags: Immune deficiencies, infection, and systemic immune disorders Source Type: research
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested
An increasing number of patients with combined immunodeficiencies have been found to carry hypomorphic variants of genes that, with null mutations, cause severe combined immunodeficiency (SCID). These patients not only present with recurrent and sometimes life-threatening infections but also with a plethora of immunodysregulatory symptoms and are a diagnostic challenge.
Source: Journal of Allergy and Clinical Immunology - December 12, 2013 Category: Allergy & Immunology Authors: Catharina Schuetz, Ulrich Pannicke, Eva-Maria Jacobsen, Siegfried Burggraf, Michael H. Albert, Manfred Hönig, Tim Niehues, Oliver Feyen, Stephan Ehl, Klaus-Michael Debatin, Wilhelm Friedrich, Ansgar S. Schulz, Klaus Schwarz Tags: Letters to the Editor Source Type: research
Incidence and Management of Rash in Telaprevir-Treated Patients: Lessons for Simeprevir?
CONCLUSIONS: ABW and BMI appear to be related to rash development. This finding may have implications in the treatment of HCV with simeprevir, given its similarity to telaprevir.
PMID: 24939632 [PubMed - as supplied by publisher]
Source: The Annals of Pharmacotherapy - June 17, 2014 Category: Drugs & Pharmacology Authors: Smith MA, Johnson HJ, Chopra KB, Dunn MA, Ulrich AM, Mohammad RA Tags: Ann Pharmacother Source Type: research
Recognising and diagnosing inflammatory brain disease
In contrast to ‘conventional’ neuro-inflammatory or neuro-immune diseases like multiple sclerosis, CNS involvement in systemic inflammatory disorders can be very difficult to recognise, and even more difficult to confirm. Vasculitis, lupus, sarcoidosis and other disorders all may involve the brain and/or spinal cord, and in each instance, presentation with exclusively neurological features is far from unknown. In most such disorders, there are no diagnostic clinical features; many of these diseases mimic each other. Once suspected, it is commonly the case that no tests are available that categorically prove the...
Source: Journal of Neurology, Neurosurgery and Psychiatry - July 9, 2014 Category: Neurosurgery Authors: Scolding, N. Tags: Immunology (including allergy), Multiple sclerosis, Radiology, Vascularitis, Surgical diagnostic tests NEUROPSYCHIATRY RESEARCH UPDATE Source Type: research
Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells
Source: Journal of Allergy and Clinical Immunology - June 27, 2014 Category: Allergy & Immunology Authors: Mona Hedayat, Michel J. Massaad, Yu Nee Lee, Mary Ellen Conley, Jordan S. Orange, Toshiro K. Ohsumi, Waleed Al-Herz, Luigi D. Notarangelo, Raif S. Geha, Janet Chou Source Type: research
A dangerous exercise lessons from food-dependent anaphylaxis for the physician
Exercise-induced anaphylaxis (EIA) and its subtype, food-dependent exercise-induced anaphylaxis are uncommon and therefore underdiagnosed forms of physical allergy. Triggers include various degrees of exercise in combination with ingestion of specific food products. Treatment remains identical to that of IgE-mediated allergic reactions. The presentation is commonly underdiagnosed and caries significant fatality risk, and this case should raise the awareness of the attending physician.
Source: The American Journal of Emergency Medicine - March 28, 2014 Category: Emergency Medicine Authors: Thomas Medveczky Tags: Case Report Source Type: research
Interface design principles for usable decision support: A targeted review of best practices for clinical prescribing interventions
Publication date: December 2012 Source:Journal of Biomedical Informatics, Volume 45, Issue 6 Author(s): Jan Horsky , Gordon D. Schiff , Douglas Johnston , Lauren Mercincavage , Douglas Bell , Blackford Middleton Developing effective clinical decision support (CDS) systems for the highly complex and dynamic domain of clinical medicine is a serious challenge for designers. Poor usability is one of the core barriers to adoption and a deterrent to its routine use. We reviewed reports describing system implementation efforts and collected best available design conventions, procedures, practices and lessons learned in order to...
Source: Journal of Biomedical Informatics - November 13, 2014 Category: Information Technology Source Type: research
Implementing school asthma programs: Lessons learned and recommendations
Despite significant advances in the treatment of asthma and the development of evidence-based and evidence-informed guidelines, childhood asthma morbidity remains high. One measure of asthma-associated morbidity is school absenteeism. In this rostrum we summarize key themes from 3 articles in this special issue on school-centered asthma programs. All 3 articles in this series describe several common themes that are essential for successful school-based interventions. These themes include the importance of trust and building strong partnerships, the importance of interaction and communication between multiple key stakeholde...
Source: Journal of Allergy and Clinical Immunology - December 1, 2014 Category: Allergy & Immunology Authors: Jessica P. Hollenbach, Michelle M. Cloutier Tags: Reviews and feature article Source Type: research
Exercise-induced bronchoconstriction in schoolchildren
Conclusion: We showed a high prevalence of exercise-induced cough and/or 10% fall in FEV1 during activity lesson in a natural environment in a large urban population of schoolchildren. Our results call for another studies addressing the impact of environment on exercise-induced symptoms.
Source: European Respiratory Journal - December 23, 2014 Category: Respiratory Medicine Authors: Jerzynska, J., Cichalewski, L., Stelmach, W., Smejda, K., Stelmach, I. Tags: 7.2 Paediatric Asthma and Allergy Source Type: research
Title: The WASH Approach: Fighting Waterborne Disease in Emergency Situations
Refugees collect water from a public tap stand in an Adjumani settlement. © Wendee Nicole
Rhino Camp, Arua District. Refugees in Uganda live on land donated by Ugandan nationals. Refugee families are given plots on which they can build temporary shelters and grow crops.© Wendee Nicole
Oxfam staff members Tim Sutton (left) and Pius Nzuki Kitonyi (right) with the soon-to-be-repaired water pump in Adjumani. In disaster-affected situations, Oxfam takes a lead in delivering WASH-related services.© Wendee Nicole
Hand-operated water pumps are a reliable source of pre...
Source: EHP Research - December 31, 2014 Category: Environmental Health Authors: Web Admin Tags: Featured Focus News Community Health Disaster Response Drinking Water Quality Infectious Disease Infrastructure International Environmental Health Microbial Agents Sanitation Warfare and Aftermath Water Pollution Source Type: research
Paediatric HIV grows up: recent advances in perinatally acquired HIV
This review is an update focusing on the current status of paediatric HIV in the UK and Ireland. Successes in prevention of mother to child transmission are highlighted. The changing epidemiology of the UK cohort is summarised and the shift in emphasis of treatment guidelines beyond limiting short-term morbidity and mortality to ensuring optimal health status in adult life is discussed. Current and future challenges relating to an aging cohort, successful transition to adult services and the prospect of a lifetime on antiretroviral therapy (ART), as well as the possibility of ART-free survival are also considered. While nu...
Source: Archives of Disease in Childhood - January 20, 2015 Category: Pediatrics Authors: Bamford, A., Lyall, H. Tags: Epidemiologic studies, Immunology (including allergy), Drugs: infectious diseases, HIV/AIDS, Child health, Sexual health, Guidelines Review Source Type: research
The alpha-gal story: Lessons learned from connecting the dots
Source: Journal of Allergy and Clinical Immunology - March 1, 2015 Category: Allergy & Immunology Tags: Continuing Medical Education examination Source Type: research
Lessons from Ebola and readiness for new emerging infectious threats
Throughout history, human subjects have served as incidental hosts to many infectious diseases that have resulted in epidemics. Many of these infectious diseases are vector-borne or zoonotic in origin. In more recent times, the global spread of HIV-1, outbreaks related to avian influenza, and the emergence of severe acute respiratory syndrome and Middle Eastern respiratory syndrome, to name a few, profoundly illustrate how an infection can spread worldwide in a very rapid fashion (Table I).1 In this issue of the Journal, Kampmann et al2 and Lindblad et al3 describe the ongoing Ebola virus disease (EVD) outbreak that is c...
Source: Journal of Allergy and Clinical Immunology - April 1, 2015 Category: Allergy & Immunology Authors: Michelle A. Barron, Donald Y.M. Leung Tags: Reviews and feature article Source Type: research
