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However, the recent demonstration of pathogenic Leptospira spp. in small mammals introduced to Madagascar suggests possible transmission from free-living animals to humans (2 ).
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Proteolytic autoantigen cleavage by the serine protease granzyme B has been implicated in the development of systemic autoimmune disease; however, there has been no conclusive demonstration of a pathogenic role for granzyme B in autoimmunity.
A clear in vivo demonstration of the pathogenic role of aPEs in mediating vascular and obstetric events is lacking.
Previously, SP has been reported twice in paediatric BHD patients both confirmed by the demonstration of a pathogenic FLCN-mutation.
This is the first demonstration of two pathogenic antibodies giving rise to ANCA-associated GN and IMN in the same patient.
More recently, a human monoclonal IgG, specifically reacting with DI, was shown to induce clotting and fetal loss in naïve mice, offering the first direct demonstration of the pathogenic effect of anti-DI antibodies [ 77].
Demonstration of a known pathogenic mutation provides indisputable evidence for the disease and gives a practical tool to clarify genetic counselling in the family.
Diffuse outbreaks may only be detected by demonstration of an identical pathogenic clone or when rare serotypes such as S. Agona are involved (15).
This assertion is further supported by our demonstration that over-expression of pathogenic VCP mutant transgenes disrupt the tubular lysosomal network and also cause accumulation of ubiquitin and lipofuscin material.
More studies are needed that include tissue level demonstration of EBV to demonstrate the pathogenic role of EBV in CNS diseases other than PTLD.
Although the analysis of urinary GAGs and/or the measurement of enzyme activity in dried blood spots are useful screening methods, the diagnosis is based in the demonstration of the enzyme deficiency in leucocytes or fibroblasts, and/or in the identification of pathogenic mutations in the ARSB gene.
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CEO of Professional Science Editing for Scientists @ prosciediting.com