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Full-Text Articles in Medical Sciences
Autoimmune Hyperphosphatemic Tumoral Calcinosis In A Patient With Fgf23 Autoantibodies., Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher J. Romero, Shoji Ichikawa, Emily G. Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, Rachel I. Gafni
Autoimmune Hyperphosphatemic Tumoral Calcinosis In A Patient With Fgf23 Autoantibodies., Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher J. Romero, Shoji Ichikawa, Emily G. Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, Rachel I. Gafni
Manuscripts, Articles, Book Chapters and Other Papers
Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. We present what we believe is the first identified case of autoimmune hyperphosphatemic tumoral calcinosis in an 8-year-old boy. In addition to the classical clinical and biochemical features of hyperphosphatemic tumoral calcinosis, the patient exhibited markedly elevated intact and C-terminal FGF23 levels, suggestive of FGF23 resistance. However, no mutations in FGF23, KL, or FGF receptor 1 …
Myasthenia Gravis And Implications For The Certified Registered Nurse Anesthetist, Matthew Predick
Myasthenia Gravis And Implications For The Certified Registered Nurse Anesthetist, Matthew Predick
Nursing Student Class Projects (Formerly MSN)
In healthcare and, specifically anesthesia, there are many conditions that require various considerations by the prudent provider. An example of a condition requiring special attention is myasthenia gravis. Myasthenia gravis is an autoimmune disease in which skeletal muscle weakness and rapid fatigue result from destruction of nicotinic acetylcholine receptors [7]. Although the prevalence is not overwhelmingly high with most recent estimates of prevalence around 14 to 20 per 100,000 people in the United States [5] and 20 per 100,000 worldwide [9], inappropriate perioperative management of those with this ailment can result in serious consequences. Understanding the pathophysiology, various treatments (both …
Dermatitis Herpetiformis, Rachel Wolf
Dermatitis Herpetiformis, Rachel Wolf
Nursing Student Class Projects (Formerly MSN)
The main sign that accompanies DH is the eruption of intensely pruritic papulovesical lesions that typically present bilaterally on the elbows, knees, buttocks, neck, and scalp (Criado et al., 2012). They may appear on the upper back, abdomen, groin, and face as well. The lesions are small blisters that resemble those that are caused by the herpes simplex virus. By the time a patient seeks evaluation by a care provider, the lesions have often been scratched so much as to cause erosions, excoriation, and or crusted papules (Junkins-Hopkins, 2010). The surrounding area may have erythema and or urticarial plaques. Patients …
Myasthenia Gravis: A Closer Look, Erin L. Ricker
Myasthenia Gravis: A Closer Look, Erin L. Ricker
Nursing Student Class Projects (Formerly MSN)
Myasthenia gravis (MG) is a rare, chronic autoimmune disease that affects the neurotransmitter acetylcholine and the acetylcholine receptors at the neuromuscular junction (Mestecky, 2013). MG causes fluctuating skeletal muscle weakness and fatigue. According to the Myasthenia Gravis Foundation of America (MGFA) (2010), 20 per 100,000 patients are diagnosed with MG, although researchers believe several more patients are misdiagnosed or missed entirely. Several neurological disorders have similar clinical presentations to MG making it difficult for inexperienced practitioners to identify and properly diagnose patients. Patients are often misdiagnosed and delayed proper treatment for one to two years after initial presentation of symptoms …
Generation And Characterization Of Peptide Fusion Proteins, Brianna L. Probasco
Generation And Characterization Of Peptide Fusion Proteins, Brianna L. Probasco
Graduate School of Biomedical Sciences Theses and Dissertations
Pathogenic Th17 cells drive progression of many autoimmune diseases. Th17 cells develop from naïve T cells in the immune system after antigen-driven stimulation in a specific cytokine environment. Normally, T cells act to fight off infection, but when not properly controlled, they can cause disease. The cytokine interleukin-23 (IL-23) plays an essential role in the expansion of pathogenic Th17 cells. IL-23 is a heterodimeric protein, composed of a p19 alpha chain and a p40 beta chain. The p40 is also part of IL-12 and binds to the IL-12 receptor beta 1 (IL-12Rβ1) subunit. Thus, it follows that the IL-23 receptor …