Science Saturday: The newest building block for understanding rare disease

One of the basic building blocks of understanding disease is epidemiologic research. In this science, researchers seek to understand how often a condition occurs in a particular population, and to identify successful ways to treat or prevent disease. In a study published April 8 in Arthritis&Rheumatology, a team of Mayo Clinic researchers led by rheumatologist Ali Duarte-Garcia, [...]
Source: News from Mayo Clinic - Category: Databases & Libraries Source Type: news

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ConclusionOur findings indicate that fibrocytes are enriched in the peripheral blood of CP patients and infiltrate target lesions. The accumulation of fibrocytes in the pathologic tissue might be driven by CXCL12, and Th2 ‐skewed immune responses are likely to facilitate their differentiation.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Original Article Source Type: research
We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind™AIPas...
Source: Autoimmunity - Category: Allergy & Immunology Tags: Autoimmunity Source Type: research
Abstract Calcification in hyaline and fibrocartilage is caused by the deposition of calcium pyrophosphate dehydrate, commonly referred to as chondrocalcinosis. Clinically, this can lead to arthritis symptoms similar to a gout attack -"pseudogout". Nonetheless, also chronic or asymptomatic disease courses are possible. The prevalence of chondrocalcinosis increases with age. The diagnostic workup of degenerative joint disease, therefore, often reveals calcifications of articular cartilage as harmless incidental findings. However, particularly in patients younger than 60 years of age, chondrocalci...
Source: Der Orthopade - Category: Orthopaedics Authors: Tags: Orthopade Source Type: research
ConclusionPSGL ‐1 absence induces reduction of Treg, NO production and ERα expression and the increase of Angiotensin II in the lungs of female mice, favoring the development of PAH
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: FULL LENGTH Source Type: research
Why did activity trackers flood the digital health market, while there’s barely a company dealing with menopause, arthritis, or rare diseases? How do digital health investors decide when it comes to funding a new project, and what are the specific factors to take into account in relation to the healthcare market? We looked around what could scare off financiers from funding tough medical issues, and have a suggestion on how to bring forward solutions for marginalized health problems. Read on. Investment in digital health for everyone? Investment in healthcare, especially in the digital health market, is growing...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Business Future of Medicine companies company digital digital health digital health startups finance funding Healthcare investment technology Source Type: blogs
Why did activity trackers flood the digital health market, while there’s barely a company dealing with menopause, arthritis, or rare diseases? How do digital health investors decide when it comes to funding a new project, and what are the specific factors to take into account in relation to the healthcare market? We looked around what could scare off financiers from funding tough medical issues, and have a suggestion on how to bring forward solutions for marginalized health problems. Read on. Investment in digital health for everyone? Investment in healthcare, especially in the digital health market, is growing...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Business Future of Medicine companies company digital digital health digital health startups finance funding Healthcare investment technology Source Type: blogs
Conclusions: Ochronosis is a very rare disease in Asia. This paper supplies new information for study of this disease. The mechanism is still unknown right now. Further studies will be necessary.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomy...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
ConclusionsFibrocytes are enriched in the peripheral blood of CP patients and infiltrate target lesions; their accumulation in the pathologic tissue might be driven by CXCL12, and Th2 ‐skewed immune responses are likely to facilitate their differentiation.This article is protected by copyright. All rights reserved.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Full Length Source Type: research
Abstract OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic, multisystemic, immune-mediated disorder associated with a substantial hospitalization risk. As a comparatively rare disease, there is a sparsity of research examining the burden of hospital admission in the contemporary era. We aim to describe national trends in hospitalization rates in England between 1998 and 2015 for SLE, using rheumatoid arthritis (RA) and general population rates as comparison cohorts for benchmarking. METHODS: Hospital admission rates, emergency and day-case admission rates, length of stay and bed days used were calcu...
Source: Lupus - Category: Rheumatology Authors: Tags: Lupus Source Type: research
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