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22:26 EDT 21st March 2018 | BioPortfolio

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Showing "Pharma Supports 10th Annual Rare Disease Joins Global" PubMed Articles 1–25 of 31,000+

Research in Rare Disease: From Genomics to Proteomics.

Jessica Lacoste from the Donnelly Centre at the University of Toronto was awarded best poster at the annual Society of Biomolecular Imaging and Informatics meeting held in San Diego, September 2017. Her work focuses on characterizing the protein localization of variants involved in rare disease. The current works and future directions of research in rare disease are summarized in the following overview.

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective.

Due to the remarkable global surge in activity in rare diseases research over the last six years, including contributions by the International Rare Diseases Research Consortium (IRDiRC), the Consortium's 2020 goals have been largely achieved by 2017. Though these developments are gratifying, enormous challenges remain. With this paradox in mind, IRDiRC set new global rare disease goals for the coming decade with the ultimate aim of improved health for people living with rare diseases worldwide. This article...

Lessons from Anti-Amyloid-β Immunotherapies in Alzheimer Disease: Aiming at a Moving Target.

Available drugs for the global Alzheimer disease (AD) epidemic only treat the symptoms without modifying disease progression. Accumulating evidence supports amyloid-β42 (Aβ42)as the key triggering agent in AD, making it the ideal target for disease-modifying therapies. Preclinical studies provided extensive support for passive Aβ42 immunotherapy, leading to human clinical trials with different antibodies.

Positive Predictive Values of International Classification of Diseases, 10th Revision Coding Algorithms to Identify Patients With Autosomal Dominant Polycystic Kidney Disease.

International Classification of Diseases, 10th Revision codes (ICD-10) for autosomal dominant polycystic kidney disease (ADPKD) is used within several administrative health care databases. It is unknown whether these codes identify patients who meet strict clinical criteria for ADPKD.

An overview of the impact of rare disease characteristics on research methodology.

About 30 million individuals in the United States are living with a rare disease, which by definition have a prevalence of 200,000 or fewer cases in the United States ([National Organization for Rare Disorders], [About NORD], [2016]). Disease heterogeneity and geographic dispersion add to the difficulty of completing robust studies in small populations. Improving the ability to conduct research on rare diseases would have a significant impact on population health. The purpose of this paper is to raise aware...

Global, Regional, and National Burden of Rheumatic Heart Disease, 1990-2015.

Rheumatic heart disease remains an important preventable cause of cardiovascular death and disability, particularly in low-income and middle-income countries. We estimated global, regional, and national trends in the prevalence of and mortality due to rheumatic heart disease as part of the 2015 Global Burden of Disease study.

Twelve tips for teaching a comprehensive disease-focused course with a global perspective: A sickle cell disease example.

A disease-focused course entitled "Understanding Sickle Cell Disease: A Biopsychosocial Approach" addressed the complex nature of SCD using patient-centered, global and interdisciplinary approaches. Sickle cell disease (SCD) is a rare inherited blood disorder that requires multidisciplinary care. Worldwide 20-25 million individuals have SCD, which is associated with a shortened lifespan due to many medical complications and social and behavioral health challenges. Health care professionals often have limite...

Determinants of Patient's Global Assessment of Disease Activity and Physician's Global Assessment of Disease Activity in patients with rheumatoid arthritis: A post hoc analysis of overall and Japanese results from phase 3 clinical trials.

To assess the determinants of Patient's Global Assessment of Disease Activity (PtGA) and Physician's Global Assessment of Disease Activity (PhGA) in overall and Japanese patients with rheumatoid arthritis (RA) from two large randomized controlled trials.

An extrapulmonary manifestation of lymphangioleiomyomatosis: A rare case report.

Lymphangioleiomyomatosis (LAM) is a rare and fatal disease which occurs almost exclusively in young women. The disease often affects lungs and most of the patients die from respiratory failure. It is often initially misdiagnosed as asthma or chronic obstructive pulmonary disease. The most common presentations of pulmonary LAM (P-LAM) include dyspnea and coughing. Chylothorax and spontaneous pneumothorax may be seen in advanced cases. Although rare, it may present with extrapulmonary LAM (E-LAM). Renal angio...

Evaluating the Evidence for More Frequent Than Annual HIV Screening of Gay, Bisexual, and Other Men Who Have Sex With Men in the United States: Results From a Systematic Review and CDC Expert Consultation.

The Centers for Disease Control and Prevention (CDC) recommended in 2006 that sexually active gay, bisexual, and other men who have sex with men (MSM) be screened for human immunodeficiency virus (HIV) at least annually. A workgroup comprising CDC and external experts conducted a systematic review of the literature, including benefits, harms, acceptability, and feasibility of annual versus more frequent screening among MSM, to determine whether evidence was sufficient to change the current recommendation. F...

Vegetation cover - another dominant factor in determining global water resources in forested regions.

Forested catchments provide critically important water resources. Due to dramatic global forest change over the past decades, the importance of including forest or vegetation change in the assessment of water resources under climate change has been highly recognized by Intergovernmental Panel on Climate Change (IPCC); however, this importance has not yet been examined quantitatively across the globe. Here, we used four remote sensing-based indices to represent changes in vegetation cover in forest dominated...

Computational drug repositioning for rare diseases in the era of precision medicine.

There are tremendous unmet needs in drug development for rare diseases. Computational drug repositioning is a promising approach and has been successfully applied to the development of treatments for diseases. However, how to utilize this knowledge and effectively conduct and implement computational drug repositioning approaches for rare disease therapies is still an open issue. Here, we focus on the means of utilizing accumulated genomic data for accelerating and facilitating drug repositioning for rare di...

Pancreatic cancer presenting as colonic disease. A rare case report.

Pancreatic cancer is the fourth major cause of cancer-related deaths. About 50% of the patients are diagnosed with advanced disease. Metastatic disease to the colon is a very rare entity with only 5 cases described in english literature.

Analysis of Genes Associated with Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's disease.

A few rare monogenic primary immunodeficiencies (PID) are characterized by chronic intestinal inflammation that resembles Crohn's disease (CD). We investigated whether 23 genes associated with 10 of these monogenic disorders contain common, low-frequency or rare variants that increase risk for CD.

Dissecting disease entities out of the broad spectrum of bipolar-disorders.

The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also un...

Lessons Learned from Emergency Response Vaccination Efforts for Cholera, Typhoid, Yellow Fever, and Ebola.

Countries must be prepared to respond to public health threats associated with emergencies, such as natural disasters, sociopolitical conflicts, or uncontrolled disease outbreaks. Rapid vaccination of populations vulnerable to epidemic-prone vaccine-preventable diseases is a major component of emergency response. Emergency vaccination planning presents challenges, including how to predict resource needs, expand vaccine availability during global shortages, and address regulatory barriers to deliver new prod...

Delivery of Global Cancer Care: An International Study of Medical Oncology Workload.

Background To our knowledge, there is no literature that has described medical oncology (MO) workload in the global context. Here, we report results of an international study of global MO workload. Methods An online survey was distributed through a snowball method via national oncology societies to chemotherapy-prescribing physicians in 65 countries. Countries were classified into low- or low-middle-income countries (LMICs), upper-middle-income countries (UMICs), and high-income countries (HICs) on the basi...

Neurodevelopmental Impairment in Children After Group B Streptococcal Disease Worldwide: Systematic Review and Meta-analyses.

Survivors of infant group B streptococcal (GBS) disease are at risk of neurodevelopmental impairment (NDI), a burden not previously systematically quantified. This is the 10th of 11 articles estimating the burden of GBS disease. Here we aimed to estimate NDI in survivors of infant GBS disease.

Environmental epidemiology of Kawasaki disease: Linking disease etiology, pathogenesis and global distribution.

The pathogenesis of Kawasaki disease (KD) is commonly ascribed to an exaggerated immunologic response to an unidentified environmental or infectious trigger in susceptible children. A comprehensive framework linking epidemiological data and global distribution of KD has not yet been proposed.

Real world big data for clinical research and drug development.

The objective of this paper is to identify the extent to which real world data (RWD) is being utilized, or could be utilized, at scale in drug development. Through screening peer-reviewed literature, we have cited specific examples where RWD can be used for biomarker discovery or validation, gaining a new understanding of a disease or disease associations, discovering new markers for patient stratification and targeted therapies, new markers for identifying persons with a disease, and pharmacovigilance. Non...

Notes from the Field: Increase in Coccidioidomycosis - California, 2016.

Coccidioidomycosis, or Valley Fever, is an infectious disease caused by inhalation of Coccidioides spp. spores (1). This soil-dwelling fungus is endemic in the southwestern United States, with most (97%) U.S. cases reported from Arizona and California (1,2). Following an incubation period of 1-3 weeks, symptomatic patients most often experience self-limited, influenza-like symptoms, but coccidioidomycosis also can lead to severe pulmonary disease and to rare cases of disseminated disease, including meningit...

Panniculitis, pancreatitis, and polyarthritis: a rare clinical syndrome.

A rare triad composed of lobular panniculitis in the setting of pancreatitis and polyarthritis is termed panniculitis, pancreatitis, and polyarthritis (PPP) syndrome. Pancreatic panniculitis is a rare form of subcutaneous fat necrosis associated with underlying pancreatic disease. We describe a case of PPP syndrome and review the relevant literature associated with this rare clinical syndrome. Despite numerous adjuvant therapies, definitive treatment of PPP syndrome requires correction of the underlying pan...

First record of epizootic ulcerative syndrome from the Upper Congo catchment: An outbreak in the Bangweulu swamps, Zambia.

We report on the first outbreak of epizootic ulcerative syndrome (EUS) amongst wild fish populations in the Bangweulu swamps, an inland delta, in the north of Zambia during 2014. The area supports a large and diverse fish fauna related to, but distinct from, that of the Zambezi River system where EUS outbreaks have occurred since 2006. A sizeable artisanal fishery, based on extensive fish weirs, is sustained by the annual flooding of the swamps, and observations of the disease outbreak by fishermen were rec...

Spontaneous pneumomediastinum: A rare complication of dermatomyositis.

Dermatomyositis is a rare connective tissue disease of unknown origin, including inflammatory myopathy and cutaneous manifestations. Several pulmonary complications associated to dermatomyositis were described; especially interstitial lung disease. Some rare and particular pulmonary complications were reported in the literature such as pneumodiastinum and pneumothorax. We are describing here, a case report about a female patient, who presented with dermatomyositis associated to pneumomediastinum as a severe...

Average annual cost of Parkinson's disease in São Paulo, Brazil, with a focus on disease-related motor symptoms.

Although Parkinson's disease is the second most prevalent neurodegenerative disease worldwide, its cost in Brazil - South America's largest country - is unknown.

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