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Case-Based Differential Diagnostic Mental Health Evaluation for Adults
Published in Kunsook S. Bernstein, Robert Kaplan, Psychiatric Mental Health Assessment and Diagnosis of Adults for Advanced Practice Mental Health Nurses, 2023
Kunsook S. Bernstein, Robert Kaplan
Diagnostic markers for AD are based on the hallmarks of the following pathological findings and may have diagnostic value:Diffuse cortical atrophy and enlarged ventricle detected on CT or MRI, and decreased brain acetylcholine metabolism.Amyloid-based diagnostic test, such as amyloid imaging or brain positron emission tomography scan.Reduced levels of amyloid beta-42 in the cerebrospinal fluid (CSF) (Table 2.26).
Diabetes Mellitus, Obesity, Lipoprotein Disorders and other Metabolic Diseases
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Studies in several different forms of amyloidosis have shown that therapy that succeeds in reducing the supply of the amyloid fibril precursor protein helps to preserve organ function and can prolong survival substantially. For AL amyloidosis, this is treatment of the antibody producing plasma cell disease such as myeloma. For AA amyloidosis, it is treatment of the underlying inflammatory disorder. Supportive therapy for failing organ function can include dialysis and sometimes organ transplantation.
Immunochemical Approaches to the Diagnosis of Alzheimer Disease
Published in Robert E. Becker, Ezio Giacobini, Alzheimer Disease, 2020
Another approach is to detect peripheral manifestations of AD. Recent evidence suggests that detection of amyloid in peripheral tissues could be useful as a diagnostic test. Skin biopsies were obtained from 10 patients with AD and 23 patients who were not demented or had dementia’s other than AD (Joachim 1989). 9/10 patients with AD showed faint, perivascular anti-ß amyloid immunoreactivity, while 4/23 controls showed such immunoreactivity. The immunoreactivity was faint and the identity was not confirmed by other methods such as the Western blot. However, if true these data suggest that skin biopsies may be useful in the diagnosis of AD. These results are also interesting because they strengthen the case that AD is not strictly a disease of the CNS. Multiple studies have documented alterations in the metabolism of somatic cells in patients with AD (Baker 1988, Peterson 1986). AD may be a disease affecting the entire body but whose principle manifestation is neurologic.
Tissue biopsy for the diagnosis of amyloidosis: experience from some centres
Published in Amyloid, 2022
Merrill D. Benson, John L. Berk, Angela Dispenzieri, Thibaud Damy, Julian D. Gillmore, Bouke P. Hazenberg, Francesca Lavatelli, Maria M. Picken, Christoph Röcken, Stefan Schönland, Mitsuharu Ueda, Per Westermark
Diagnosis of amyloidosis is usually based on demonstration of amyloid deposits in a tissue biopsy. A definitive diagnosis has become increasingly important since a number of impactful treatment options have developed. The clinical and biologic diversity of amyloidosis conditions emphasises the need for refined and exact analysis of the deposited material. Evolution of such analyses has occurred independently at the relatively few different specialised centres around the world. In this way, a number of distinct but partially complementary methods have emerged. The purpose of this clinical practice summary of experts is to describe some important steps in biopsy procedures and diagnostic tools in the diagnostic work-up of amyloid and amyloidosis and provide examples of alternative methods. In addition, we wish to point out some challenges and pitfalls. The specific signs, symptoms and conditions warranting suspicion of amyloidosis that underlie the decision to obtain a biopsy fall beyond the scope of this article.
Somatostatin-derived amyloidosis: a novel type of amyloidosis associated with well-differentiated somatostatin-producing neuroendocrine tumours
Published in Amyloid, 2022
Benjamin J. Van Treeck, Surendra Dasari, Paul J. Kurtin, Jason D. Theis, Samih H. Nasr, Lizhi Zhang, Saba Yasir, Rondell P. Graham, Ellen D. McPhail, Samar Said
Amyloidosis has multiple precursor proteins, and determining the type of amyloid is crucial for prognosis and treatment. LC MS/MS is considered the gold standard for amyloid typing, as its sensitivity and specificity are close to 100% [1,6,9,11–15]. It is also capable of identifying new amyloid types. The association between neuroendocrine tumours of the pancreas and amyloidosis has been previously reported. Lam et al. found that amyloidosis was present in 25% of pancreatic neuroendocrine tumours, all of which were functional [16]. The most common pancreatic neuroendocrine tumours associated with amyloid deposition are insulin producing tumours, called insulinomas, 34–65% of which produce amyloid composed of islet amyloid polypeptide, also known as amylin [16–18]. Islet amyloid polypeptide production has also been suggested as the culprit protein in vasoactive intestinal polypeptide (VIP) secreting pancreatic neuroendocrine tumours with amyloid based on IHC analysis [19,20]. However, confirmation of amyloid type by LC MS/MS in VIP secreting pancreatic neuroendocrine tumours has not been performed. While somatostatin was reported to form amyloid in vitro [21], to our knowledge, somatostatin has not been previously reported to form amyloid fibrils in humans.
Renal amyloidosis: Pathogenesis
Published in Ultrastructural Pathology, 2021
Gise observed that glomerular amyloidosis begins in the mesangium in 1981.33 (Figure 1a) The following year, Solomon and coworkers showed the preferential association of AL-amyloid with lambda light chains and in doing so began to hint at the concept that only certain light chains engaged in amyloidogenesis.34 (Figure 1B) Although there are more than 30 precursor proteins capable of engaging in amyloid formation, the main types of amyloid found in the kidney, as recognized today, are AL and AA types and the discussion that follows addresses the pathogenesis of these two types of amyloidosis. Most of the basic research that has been conducted in renal amyloidosis has been in AL type. Hereditary forms of amyloidosis can also involve glomeruli, but some are characterized by preferential amyloid deposition in the medulla.