Pediatric rheumatology is a paediatric subspecialty for evaluation and treatment of non-surgical musculoskeletal syndromes and diseases in children and adolescents, particularly autoimmune and rheumatic diseases.
She was the site principal investigator for a National Institutes of Health study focusing on the development of new treatments for children with juvenile arthritis, the results of which were published in the leading rheumatology journals. She remains the principal investigator for studies focusing on immune protocols to improve tolerance to enzyme replacement for treatment of Pompe disease and she is the site co-principal investigator for one study in Duchenne muscular dystrophy. She also received external grant support funding from Children’s Medical Services in the Department of Health to be the cardiac transplant immunologist and to direct the SCID Newborn Screening program at UF.
Fc receptor genes and the systemic lupus erythematosus ..
However, for up to 13% of healthy individuals, indirect immunofluorescence may detect anti-nuclear antibodies. Most of these healthy people will not develop an autoimmune disease – despite the positive ANA test. It is thus a challenge for the physician to differentiate these healthy, false-positive patients from those ANA-positive patients who already have an inflammatory rheumatic disease or who truly have an increased risk of developing such an autoimmune disease.
endophenotypes for an autoimmune disease in ..
Michael Chu has presented a classic instance of an allergic reaction to methimazole in a woman with thyrotoxic Graves’ disease and excellently reviewed the pathophysiology of the various thyroid antibodies. Let me briefly review the etiology, diagnosis and management of patients with the immune thyroid diathesis.Immune thyroid disease (ITD) is responsible for the vast majority of hypo- and hyperthyroidism in the North America and for a much of euthyroid, thyroid enlargement. Worldwide, only iodine-deficiency accounts for more thyroid pathology.ITD is not one disorder. Rather, there is a spectrum of clinical disorders that occur in a familial setting, most often among women, and frequently associated with other immune-mediated non-thyroid diseases. The disorders are not fixed and may wax and wane in intensity or evolve from one clinical expression to another, for instance from hyperthyroidism to hypothyroidism. ITD may be expressed solely in the thyroid, like goiter, have systemic secondary consequences, like myxedema, or primarily affect several organ systems, like Graves’ disease. The manifestations of ITD are influenced by co-morbidities, past events, environmental factors, and notably local T-lymphocyte phenomena and several immunoglobulins that have unique specificities and impact on thyroid function. TSI binds to and stimulates the TSH receptor to enhance thyroid hormone levels, anti-TPO antibody interferes with the function of the thyroid peroxidase enzyme to reduce thyroxine production, TSH-blocking antibody impedes TSH and TSI activity at the TSH receptor, also reducing hormone levels, but anti-thyroglobulin antibodies have no known hormonal consequences. All of the antibodies cross the placenta and affect the fetal and neonatal thyroid for the duration of maternal 7S immunoglobulins in the neonatal circulation. There are no easily available assessments of the T-lymphocyte factors and their pathophysiology is a subject of ongoing investigation.The presence of anti-thyroid antibodies in the serum is a label signifying that autoimmune disease is operative and that other illness of this type may be present in the patient or family.
development of SLE in hosts with such diathesis
Rheumatism affects more than just the joints: the heart and circulatory system are also at risk!The knowledge gradually sinks in, even for patients: inflammatory rheumatic diseases like rheumatoid arthritis (RA) not only damage the joints, but also the blood vessels. Patients with rheumatism thus have an increased risk of suffering a heart attack or stroke.