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, [...]
AbstractWe read with interest the recent article by Duarte ‐García, A. et al. where they reported an estimated prevalence of the antiphospholipid syndrome (APS) of 50 cases per 100,000 population. APS is an autoimmune disorder characterized by thrombotic events, pregnancy morbidity, or both in the presence of persistent positivity for antiphospholipid an tibodies (aPL). While APS is often held as the most common acquired thrombophilia, the global incidence and the prevalence of APS in the general population still need to be fully elucidated. Some reports estimate an incidence of 5 cases per 100,000 persons per yea...
In this report, we describe a case of IgG4-related spinal pachymeningitis in a middle-age male who presented initially with neck pain and rheumatoid arthritis-like symptoms and later on developed both right upper and lower limb weakness. He was found to had pachymeningeal thickening on a cervical magnetic resonance image (MRI) and elevated serum IgG4 levels. He was treated with glucocorticoids and rituximab, which led to a significantly positive radiological response. PMID: 32518934 [PubMed - in process]
Human neutrophil elastase (HNE) is a major cause of the destruction of tissues in cases of several different chronic andinflammatory diseases. Overexpression of the elastase enzyme plays a significant role in the pathogenesis of various diseases including chronic obstructive pulmonary disease (COPD), acute respiratory distress syndrome, rheumatoid arthritis, the rare disease cyclic hematopoiesis (or cyclic neutropenia), infections, sepsis, cystic fibrosis, myocardial ischemia/reperfusion injury and asthma, inflammation, and atherosclerosis. Human neutrophil elastase is secreted by human neutrophils due to different stimuli...
CONCLUSION: We gained valuable experience and insight from the pilot study to guide the design and analysis of comparative effectiveness studies using the CARRA registry CTP approach. Our analytical methods can be adopted for future comparative effectiveness studies and applied to other rare disease observational studies. PMID: 32238513 [PubMed - as supplied by publisher]
Primary elbow osteoarthritis is a relatively rare disease, with symptomatic disease occurring in approximately 2% of the general population. However, incidence as high as 33% has been described in patients who commonly undergo arduous manual activity. Osteocapsular debridement has been described through various approaches with successful outcomes in patients with elbow arthritis and impingement symptoms. Despite suggested benefits of different approaches, there is insufficient evidence in the literature to date to demonstrate superiority of any approach.
Conclusions In current practice, it is highly difficult to diagnose Whipple’s disease. In order to decrease the delay between the first symptoms and the diagnosis, effective tools such as saliva and stools PCR should be used because higher delays of diagnosis lead to a higher number of relapses.
ConclusionThe absence of PSGL ‐1 induces a reduction in Treg cells, NO production, and ERα expression and causes an increase in Ang II in the lungs of female mice, favoring the development of PAH.
Systemic sclerosis (SSc) is a rare disease with studies limited by small sample sizes. Electronic health records (EHRs) represent a powerful tool to study patients with rare diseases such as SSc, but validated...
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.