Breathnach, S. Amyloid and amyloidosis. J Am Acad Dermatol. vol. 18. 1988. pp. 1-16. (This 1988 review still offers an excellent overview of primary systemic amyloidosis. Although the prognosis and treatment information is outdated, the sections covering the pathogenesis, histopathology clinical/diagnostic features (including cutaneous findings with images) comprehensively summarizes the current information found in the literature for primary systemic amyloidosis. This manuscript also provides a decent overview of primary localized cutaneous amyloidosis but most of the text is dedicated to primary systemic amyloidosis.). Borowicz, J, Gillespie, M, Miller, R. Cutaneous amyloidosis. Skinmed. vol. 2. 2011. pp. 96-100. (Within this brief overview of cutaneous amyloidosis, this manuscript provides a current summary of the treatment options for nodular cutaneous amyloidosis with a focus on literature findings for dermabrasion, carbon dioxide laser therapy, and pulse dye laser treatment.). Desai, ...
Acceptance of any contribution, gift or grant is at the discretion of the NZ ATTR Amyloidosis Patients Association (NZAPA). The NZ ATTR Amyloidosis Patients Association (NZAPA) will not accept any gift unless it can be used or expended consistently with the purpose and mission of the NZ ATTR Amyloidosis Patients Association (NZAPA).. No irrevocable gift, whether outright or life-income in character, will be accepted if under any reasonable set of circumstances the gift would jeopardize the donors financial security.. The NZ ATTR Amyloidosis Patients Association (NZAPA) will refrain from providing advice about the tax or other treatment of gifts and will encourage donors to seek guidance from their own professional advisers to assist them in the process of making their donation.. The NZ ATTR Amyloidosis Patients Association (NZAPA) will accept donations of cash or publicly traded securities. Gifts of in-kind services will be accepted at the discretion of the NZ ATTR Amyloidosis Patients ...
TY - JOUR. T1 - Isolated nodular pulmonary amyloidosis. T2 - Diagnosis by percutaneous needle aspiration biopsy. AU - Scott, Penelope P.. AU - Scott, William W.. PY - 1985/4. Y1 - 1985/4. N2 - We have reported three cases of isolated nodular pulmonary amyloidosis, a rare condition whose roentgenographic presentation frequently mimics tumor metastatic to the lung or primary lung cancer. Computerized tomography is not helpful in diagnosing this condition. In our experience, the specific diagnosis could be made by aspiration needle biopsy, avoiding thoracotomy.. AB - We have reported three cases of isolated nodular pulmonary amyloidosis, a rare condition whose roentgenographic presentation frequently mimics tumor metastatic to the lung or primary lung cancer. Computerized tomography is not helpful in diagnosing this condition. In our experience, the specific diagnosis could be made by aspiration needle biopsy, avoiding thoracotomy.. UR - ...
AL Amyloidosis is known to be a systemic disease affecting multiple organs and tissue while its rare that patients present with gastrointestinal symptoms at first and later develop multiple-organ dysfuction. Clinical signs are not specific and the diagnosis is rarely given before performing immunofixation and endoscopy with multiple biopsies. We would like to emphasize the value of precise diagnostic process of AL amyloidosis. In this case report, we describe a 56-year-old man who presented with recurrent periumbilical pain for 4 months and gradually worsened over a month. After a series of tests, he was finally diagnosed with primary systemic AL amyloidosis. He was treated with a chemotherapy regimen (Melphalan, dexamethasone and thalidomide) achieving a good clinical response. On account of the high misdiagnosis rate, establishing the most precise diagnosis in first time with typing amyloidogenic protein becomes increasingly vital. Although the presenting feature is usually nonspecific, AL
TY - JOUR. T1 - Immunoglobulin light chain amyloidosis is diagnosed late in patients with preexisting plasma cell dyscrasias. AU - Kourelis, Taxiarchis. AU - Kumar, Shaji K. AU - Go, Ronald S.. AU - Kapoor, Prashant. AU - Kyle, Robert A.. AU - Buadi, Francis K.. AU - Gertz, Morie. AU - Lacy, Martha. AU - Hayman, Suzanne R.. AU - Leung, Nelson. AU - Dingli, David M. AU - Lust, John A.. AU - Lin, Yi. AU - Zeldenrust, Stephen R.. AU - Rajkumar, S Vincent. AU - Dispenzieri, Angela. PY - 2014/11/1. Y1 - 2014/11/1. N2 - AL amyloidosis (AL) is rare and frequently remains undiagnosed until organ function is compromised, even among patients with known pre-existing untreated plasma cell dyscrasias (PCD). We identified 168 patients with AL amyloidosis who had a prior untreated PCD. The earliest symptom or sign (s/s) was defined as the first symptom reported by the patient that could be attributed to organ dysfunction caused by AL. The interval from the time of development of s/s to the establishment of ...
Immunoglobulin light chain amyloidosis (AL) is a plasma cell dyscrasia characterized by deposition of amyloid fibrils in various organs and tissues, derived from monoclonal light chains, leading to organ dysfunction.1-3 High-dose melphalan with autologous stem cell transplant (HDM/SCT) is an effective treatment with high complete hematologic response rates (CR) and is capable of producing durable remissions and prolonged overall survival.4-6 Only selected patients are eligible to receive HDM/SCT, and treatment-related mortality is in the range of 5-15%. More effective and widely applicable treatment modalities in AL amyloidosis are, therefore, needed.. Clinical trials of alternate treatment options have tested non-transplant melphalan-based strategies and novel therapeutics such as lenalidomide and bortezomib. Oral melphalan and dexamethasone (M-Dex) is a standard regimen for patients not eligible to receive HDM/SCT; reported complete response rates range from 13% to 33% and median overall ...
This case report concerns a patient who presented a diagnostic problem of cardiomegaly and myocardial failure of unknown etiology and in whom the outstanding pathologic finding at autopsy was primary systemic amyloidosis with marked cardiac involvement. An additional finding of great interest was the presence of numerous Russell bodies in the bone marrow. For previously reported cases (approximately 100) and reviews of the literature of primary systemic amyloidosis,1-14 we found no report of similar bone marrow findings though Snapper, Turner and Moscovitz15 have reported Russell bodies in the bone marrow in atypical amyloidosis accompanying multiple myeloma. Morphologically, amyloidosis associated with ...
AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in the extracellular space of various tissues and organs. In AA amyloidosis, the deposited protein is serum amyloid A protein (SAA), an acute-phase protein which is normally soluble and whose plasma concentration is highest during inflammation. AA amyloidosis is a complication of a number of inflammatory diseases and infections, although only a small portion of patients with these conditions will go on to develop AA amyloidosis. A natural history study of AA amyloidosis patients published in the New England Journal of Medicine reported a number of conditions associated with AA amyloidosis. The most common presentation of AA amyloidosis is renal in nature, including proteinuria, nephrotic syndrome and progressive development of renal insufficiency leading to End Stage Renal Disease (ESRD) and need for renal replacement therapy (e.g. dialysis or renal transplantation). ...
Systemic amyloidosis can be classified as follows: (1) primary systemic amyloidosis (PSA), usually with no evidence of preceding or coexisting disease, paraproteinemia, or plasma-cell dyscrasia; (2) amyloidosis associated with multiple myeloma; or (3) secondary systemic amyloidosis with evidence of coexisting previous chronic inflammatory or ...
Amyloidosis is a disorder caused by misfolding of autologous protein and its extracellular deposition as fibrils, resulting in vital organ dysfunction and eventually death. Pulmonary amyloidosis may be localised or part of systemic amyloidosis.. Pulmonary interstitial amyloidosis is symptomatic only if the amyloid deposits severely affect gas exchange alveolar structure, thus resulting in serious respiratory impairment. Localised parenchymal involvement may be present as nodular amyloidosis or as amyloid deposits associated with localised lymphomas. Finally, tracheobronchial amyloidosis, which is usually not associated with evident clonal proliferation, may result in airway stenosis.. Because the treatment options for amyloidosis are dependent on the fibril protein type, the workup of all new cases should include accurate determination of the amyloid protein. Most cases are asymptomatic and need only a careful follow-up. Diffuse alveolar-septal amyloidosis is treated according to the underlying ...
Amyloidosis is a disease in which amyloid, an unusual protein that normally isnt present in the body, accumulates in various tissues.. Many forms of amyloidosis exist. In primary amyloidosis, the cause isnt known. However, the disease is associated with abnormalities of plasma cells, as is multiple myeloma, which may also be associated with amyloidosis. In secondary amyloidosis, the amyloidosis is secondary to another disease such as tuberculosis, infections of the bone, rheumatoid arthritis, familial Mediterranean fever, or granulomatous ileitis. A third form, hereditary amyloidosis, affects nerves and certain organs; it has been noted in people from Portugal, Sweden, Japan, and many other countries.. Another form of amyloidosis is associated with normal aging and particularly affects the heart. What causes amyloid to build up excessively usually isnt known. However, amyloidosis can be a response to various diseases that cause persistent infection or inflammation. Yet another form of ...
Amyloidosis is the extracellular deposition of insoluble amyloid fibrilprotein in any tissue or organ.[1] The most common subtypes of the disease are AL amyloidosis and AA reactive amyloidosis.[1] AL amyloidosis is a systemic disease caused by immunoglobulin light chain fragments, while AA amyloidosis is a potential complication of recurrent inflammation leading to the production of serum amyloid A, an acute phase reactant.[2] Pulmonary amyloidosis is a localized form of amyloid deposition that is confined to the lung parenchyma.[
TY - JOUR. T1 - Blood stem cell transplantation as therapy for primary systemic amyloidosis (AL). AU - Gertz, Morie. AU - Lacy, Martha. AU - Gastineau, D. A.. AU - Inwards, D. J.. AU - Chen, M. G.. AU - Tefferi, Ayalew. AU - Kyle, R. A.. AU - Litzow, Mark R. PY - 2000. Y1 - 2000. N2 - This study investigated the response rate and toxicity of blood cell transplantation as treatment for primary amyloidosis (AL). Twenty-three patients had stem cells collected between November 1995 and September 1998. Conditioning included melphalan and total body irradiation in 16 and melphalan alone in 4. Three patients did not undergo stem cell infusion because of poor performance status. Two died of progressive amyloid at 1 and 3 months. One patient is alive on hemodialysis. Fourteen males and six females (median age, 57 years) underwent transplantation. Renal, cardiac (by echocardiography), peripheral neuropathy or liver amyloidosis occurred in 14, 12, 3, and 1, respectively. Echocardiography demonstrated an ...
Quock T, Yan T, Chang E et al. Epidemiology of AL amyloidosis: a real-world study using US claims data. Blood advances 2018; 2(10): 1046-1053. Kourelis T, Kumar S, Gertz M et al. Coexistent Multiple Myeloma or Increased Bone Marrow Plasma Cells Define Equally High-Risk POPULATINS in Patients With Immunoglobulin Light Chain Amyloidosis. Journal of clinical oncology 2013; 31(34): 4319-4324. Rafae A, Malik M N, Abu Zar M et al. An Overview of Light Chain Multiple Myeloma: Clinical Characteristics and Rarities, Management Strategies and Disease Monitoring. Cureus 2018; 10(8): 3148. Leung N, Bridoux F, Batuman V et al. The evaluation of monoclonal gammopathy of renal significance: a consensus report of the International Kidney and Monoclonal Gammopathy Research Group. Nature Reviews Nephrology 2019; 15: 45-59. Bowen K, Shah N, Lewin M. AL Amyloidosis Presenting with Negative Congo Red Staining in the Setting of High Clinical Suspicion: A Case Report. Case Reports in Nephrology 2012; 2012 Article ID ...
Demographics: Patients can be of almost any age, from childhood to elderly, depending on the underlying cause. Primary amyloidosis shows a male predominance.. Cardinal Findings: In primary amyloidosis, the most commonly involved organs are the kidney, heart, liver, and skin; skeletal muscle and the tongue may also be affected. Peripheral neuropathies are seen, but the central nervous system (CNS) is generally not involved. Secondary amyloidosis most commonly presents with nephrotic syndrome or gastrointestinal (GI) bleeding. Macroglossia is not seen with secondary amyloidosis. The initial finding in hemodialysis associated amyloid is often CTS.. Uncommon Manifestations: In primary amyloidosis, amyloid deposits may be seen in the synovium and occasionally in the synovial fluid.. Diagnostic Tests: Biopsies of affected tissues are usually required. The tissues are stained with Congo red and viewed under polarized light. Kidney and peripheral nerve biopsy specimens can be useful if there are known ...
Nodular pulmonary amyloidosis (NPA) is an uncommon pathology of insoluble protein depositing in pulmonary parenchyma. This localized pulmonary form of amyloidosis is most often found to contain combinations of kappa and lambda immunoglobulin light chain and immunoglobulin heavy chain proteins with a polyclonal lymphoplasmacystic infiltrate. Herein we present two cases of NPA of the rarely reported monoclonal (light-chain restricted) form with review of the literature and discussion of the clinical, radiographic, and histologic features of NPA.
The UK ATTR Amyloidosis Patients Association (UKATPA) was founded in 2017 by a group of UK patients with transthyretin (TTR)-type systemic amyloidosis (ATTR), supported by the consultant physicians of the UK NHS National Amyloidosis Centre.. In recent years there have been major advances in the field of ATTR amyloidosis. The processes responsible for formation of TTR amyloid have been elucidated for the first time and intense activity in drug development promises the early advent of potentially effective prophylactic and disease modifying new medicines. Hereditary ATTR amyloidosis, caused by mutations in the TTR gene, is the most common form of hereditary amyloidosis but is nonetheless very rare. However, crucially, there is now compelling evidence that acquired ATTR amyloidosis, caused by normal wild type TTR, is far more common than was previously believed.. In this exciting environment of change and optimism, our members decided to found a UK patient group dedicated to the interests of ...
TY - CHAP. T1 - Definition of organ involvement and treatment response in primary systemic amyloidosis (Al). T2 - A consensus opinion from the 10 th international symposium on amyloid and amyloidosis. AU - Gertz, Morie A.. AU - Comenzo, Ray. AU - Falk, Rodney H.. AU - Fermand, Jean Paul. AU - Hazenberg, Bouke P.. AU - Hawkins, Philip N.. AU - Merlini, Giampaolo. AU - Moreau, Philippe. AU - Ronco, Pierre. AU - Sanchorawala, Vaishali. AU - Sezer, Orhan. AU - Solomon, Alan. AU - Grateau, Giles. PY - 2004/1/1. Y1 - 2004/1/1. UR - http://www.scopus.com/inward/record.url?scp=17744382676&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=17744382676&partnerID=8YFLogxK. M3 - Chapter. SN - 0849335345. SN - 9780849335341. SP - 151. EP - 153. BT - Amyloid and Amyloidosis. PB - CRC Press. ER - ...
TY - JOUR. T1 - Hereditary systemic immunoglobulin light-chain amyloidosis. AU - Benson, Merrill. AU - Liepnieks, Juris J.. AU - Kluve-Beckerman, Barbara. PY - 2015. Y1 - 2015. N2 - Several members of a family died from renal failure as a result of systemic amyloidosis. Extensive studies to detect previously documented gene mutations associated with amyloidosis failed to identify a causative factor. In search of the genetic basis for this syndrome, amyloid fibrils were isolated from renal tissue of a member of the kin who died while on renal dialysis. Amino acid sequencing of isolated amyloid protein identified sequences compatible with the constant region of the immunoglobulin κ light-chain. Isolation and characterization of κ light-chain protein from serum of an affected member of the kindred revealed mutation in the constant region of kκlight-chain, with cysteine replacing serine at amino acid residue 131. This mutation (Ser131Cys) was confirmed by DNA analysis, which identified a ...
TY - JOUR. T1 - Primary amyloidosis as a cause of microvascular angina and intermittent claudication.. AU - Abecasis, Pedro Braga. AU - Soares, Isabel Maria de Seabra Correia. PY - 2005/1/1. Y1 - 2005/1/1. N2 - Primary systemic amyloidosis or AL amyloidosis is a rare condition characterized by extracellular deposits of fibrils composed of fragments of immunoglobulin light chains. Widespread deposition of this amyloid in tissues interferes with their normal function and leads to multiple organ failure. Clinical manifestations are highly variable due to the wide range of organs involved. The heart is affected in 90% of cases; in 30% of these, cardiac dysfunction is the form of presentation and in 50% it is the cause of death. The commonest form of cardiovascular manifestation is congestive heart failure due to restrictive cardiomyopathy caused by extensive interstitial infiltration of amyloid into the myocardium. Occasionally, it can present as angina, due to infiltration of amyloid into the walls ...
DISEASE CHARACTERISTICS: Histochemically proven primary systemic amyloidosis (AL) No presence of non-AL amyloidosis No amyloid-specific syndrome (e.g., skin purpura or carpal tunnel syndrome) as only evidence of disease No vascular amyloid only in a bone marrow biopsy specimen or in a plasmacytoma Must have symptomatic organ involvement with amyloid (e.g., liver, mild cardiac, renal, or soft tissue involvement, or grade 1 or 2 peripheral neuropathy) Demonstrable M-protein in the serum/urine OR Clonal population of plasma cells in the bone marrow OR Immunohistochemical stain with anti-light chain antisera of amyloid fibrils No clinically overt multiple myeloma (i.e., monoclonal BMPC greater than 20% and at least one of the following: bone lesions, anemia, or hypercalcemia). PATIENT CHARACTERISTICS: Age: 18 and over Performance status: ECOG 0-3 Life expectancy: Not specified Hematopoietic: Absolute neutrophil count at least 1,500/mm3 Platelet count at least 100,000/mm3 Hepatic: Total bilirubin ...
Abstract. Background: Primary systemic amyloidosis (AL) is an incurable plasma cell disorder. Lenalidomide, especially in conjunction with dexamethasone, has b
1. Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003; 349(6): 583-596. 2. Loss M, Ng WS, Karim RZ et al. Hereditary lysozyme amyloidosis: spontaneous hepatic rupture (15 years apart) in mother and daughter. role of emergency liver transplantation. Liver Transpl 2006; 12(7): 1152-1155. 3. Michowska M, Boj E, Wrzołkowa T et al. A First Case of Liver Rupture In Transthyretin (TTR) Familial Amyloid Polyneuropathy. Exp Clin Hep 2005; 1(2): 109-112. 4. Gertz MA, Kyle RA. Hepatic amyloidosis: clinical appraisal in 77 patients. Hepatology 1997; 25(1): 118-121. 5. Comenzo RL, Zhang Y, Martinez C et al. The tropism of organ involvement in primary systemic amyloidosis: contributions of Ig V(L) germ line gene use and clonal plasma cell burden. Blood 2001; 98(3): 714-720. 6. Solomon A, Macy SD, Wooliver C et al. Splenic plasma cells can serve as a source of amyloidogenic light chains. Blood 2009; 113(7): 1501-1503. 7. Park MA, Mueller PS, Kyle RA et al. Primary (AL) hepatic ...
Muscle involvement in AL amyloidosis is a rare condition, and the diagnosis of amyloid myopathy is often delayed and underdiagnosed. Amyloid myopathy may be the initial manifestation and may precede the diagnosis of systemic AL amyloidosis. Here, we report the case of a 73-year-old man who was referred to our center for a monoclonal gammopathy of undetermined significance (MGUS) diagnosed since 1999. He reported a progressive weakness of proximal muscles of the legs with onset six months previously. Muscle biopsy showed mild histopathology featuring alterations of nonspecific type with a mixed myopathic and neurogenic involvement, and the diagnostic turning point was the demonstration of characteristic green birefringence under cross-polarized light following Congo red staining of perimysial vessels. Transmission electron microscopy (TEM) confirmed amyloid fibrils around perimysial vessels associated with collagen fibrils. A stepwise approach to diagnosis and staging of this disorder is critical and
Amyloidosis refers to the deposition of the abnormal protein in tissues. In histologic sections, amyloid appears as an amorphous proteinaceous eosinophilic material that demonstrates characteristic apple-green birefringence under polarized light. There are several types of amyloidosis and amyloid proteins, and they can accumulate systemically/diffusely (involving several organs) or in a localized fashion (e.g. nodular). The most common amyloid proteins are AL, AA and transthyretin. AL amyloidosis (formerly primary amyloidosis) derives from immunoglobulin light chains and is the amyloid protein frequently associated with systemic amyloidosis secondary to lymphoproliferative disorders. It is also seen in certain types of localized amyloidosis (e.g. nodular amyloidosis). AA amyloidosis (formerly secondary amyloidosis) is due to the abnormal deposition of the amyloid-associated protein. It is usually seen in chronic inflammatory diseases such as rheumatoid arthritis and inflammatory bowel disease. ...
RATIONALE: Giving melphalan and bortezomib before and after a stem cell transplant stops the growth of abnormal cells by stopping them from dividing or killing them. Giving colony-stimulating factors and certain chemotherapy drugs, helps stem cells move from the bone marrow to the blood so they can be collected and stored. Chemotherapy and monoclonal antibody therapy is then given to prepare the bone marrow for the stem cell transplant. The stem cells are then returned to the patient to replace the blood-forming cells that were destroyed by the chemotherapy.. PURPOSE: This phase II trial is studying how well giving melphalan together with bortezomib followed by stem cell transplant works in treating patients with primary systemic amyloidosis. ...
Amifostine and Melphalan in Treating Patients With Primary Systemic Amyloidosis Who Are Undergoing Peripheral Stem Cell Transplantation - Article Information
PubMed journal article: Multiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis. Download Prime PubMed App to iPhone, iPad, or Android
RATIONALE: Collecting and storing samples of blood, urine, and tissue from patients with primary systemic amyloidosis to test in the laboratory may help
Renal amyloidosis is a glomerulopathy resulting from glomerular deposition of insoluble fibrillar proteins in the mesangium of the glomerulus. Definition, classification, epidemiology, clinical presentation, diagnosis, and treatment of amyloidosis: see Amyloidosis.. Diagnosis is confirmed by the presence of amyloid protein on immunofluorescence and electron microscopy. Many different types of amyloid protein exist, but the two most common subtypes are AL and AA amyloid:. 1) AL amyloidosis is the most common renal amyloidosis. It results in organized deposits of light chains in the glomerulus. Renal involvement occurs in approximately 50% of patients and manifests as decreased renal function and proteinuria. Nephrotic syndrome can occur. Hypertension is usually absent and the kidneys are often enlarged. Renal treatment response is related to the degree of improvement in light chain production from the underlying condition. Proteinuria and renal function improve with successful therapy.. 2) AA ...
TY - JOUR. T1 - Successful sequential liver and stem cell transplantation for hepatic failure due to primary AL amyloidosis. AU - Kumar, K. Shiva. AU - Lefkowitch, Jay. AU - Russo, Mark W.. AU - Hesdorffer, Charles. AU - Kinkhabwala, Milan. AU - Kapur, Sandip. AU - Emond, Jean C.. AU - Brown, Robert S.. PY - 2002. Y1 - 2002. N2 - We report on a patient with primary AL amyloidosis who presented with progressive liver failure secondary to hepatic infiltration in the absence of significant extrahepatic involvement. Orthotopic liver transplantation was performed successfully. After an uneventful postoperative course, the patient developed evidence of significant recurrent amyloidosis requiring treatment. He then underwent stem cell transplantation 10 and 14 months after liver transplantation. After 28 months of follow-up posttransplantation, the patient continues to do well, with no clinical evidence of recurrent disease. This is the first reported patient with primary amyloidosis to undergo ...
High-dose melphalan with autologous stem cell transplantation (ASCT) can induce durable haematological and organ responses in systemic AL amyloidosis (AL). Stringent selection criteria have improved safety of ASCT in AL but most patients are transplant-ineligible. We report our experience of deferred ASCT in AL patients who were transplant-ineligible at presentation but had improvements in organ function after induction chemotherapy, enabling them to undergo ASCT. Twenty-two AL patients underwent deferred ASCT from 2011 to 2017. All had serial organ function and clonal response assessment. Organ involvement and responses were defined by amyloidosis consensus criteria. All patients were transplant-ineligible at presentation, predominantly due to advanced cardiac involvement. All received bortezomib-based therapy, with 100% haematologic response (86% complete response (CR)/very good partial response (VGPR)), enabling reversal of ASCT exclusion criteria. Patients underwent deferred ASCT for ...
TY - JOUR. T1 - Cardiac Light Chain Amyloidosis: The Role of Metal Ions in Oxidative Stress and Mitochondrial Damage. AU - Diomede, L.. AU - Romeo, M.. AU - Rognoni, P.. AU - Beeg, M.. AU - Foray, C.. AU - Ghibaudi, E.. AU - Palladini, G.. AU - Cherny, R. A.. AU - Verga, L.. AU - Capello, G. L.. AU - Perfetti, V.. AU - Fiordaliso, F.. AU - Merlini, G.. AU - Salmona, M.. N1 - LR: 20170920; JID: 100888899; OTO: NOTNLM; PMCR: 2018/09/20 00:00; 2018/09/20 00:00 [pmc-release]; 2017/01/31 06:00 [pubmed]; 2017/01/31 06:00 [medline]; 2017/01/31 06:00 [entrez]; ppublish. PY - 2017/9/20. Y1 - 2017/9/20. N2 - AIMS: The knowledge of the mechanism underlying the cardiac damage in immunoglobulin light chain (LC) amyloidosis (AL) is essential to develop novel therapies and improve patients outcome. Although an active role of reactive oxygen species (ROS) in LC-induced cardiotoxicity has already been envisaged, the actual mechanisms behind their generation remain elusive. This study was aimed at further ...
Protein aggregation is the cause of several human diseases such as diabetes mellitus type 2, Parkinson s disease, Alzheimer s disease, Huntington s disease, spongiform encephalopathies, congestive heart failure or dialysis-related amyloidosis. All of these disorders result from protein misfolding which leads to fibrillization and deposition of amyloid plaques in different parts of the body.Due to high molecular weight of the amyloid fibrils and intrinsic heterogeneity of the intermediate states, protein aggregation is a very challenging field of study for the structural biologist. However, nuclear magnetic resonance (NMR) provides a unique possibility to investigate aggregation at all stages, from the monomer to the fibrils.In this work, structural changes involved in prion diseases and dialysis-related amyloidosis are investigated with the help of various NMR techniques.Prion diseases are caused by the aggregation of the natively α-helical prion protein PrPC into its pathological β-sheet-rich ...
Light chain amyloidosis, a deadly protein misfolding disease, is caused by multiple mutations in cells that are intended to protect the body. Instead, the mutations send misfolded bundles of proteins through the bloodstream, potentially destroying the heart, kidneys, liver or other organs. Mayo Clinic researchers have identified one of these mutations and have shown that the molecules shifting position is as important as its unique shape. The findings appear in the current issue of the journal Structure.
Chronic renal disease is a serious complication of long-term intravenous drug use (IVDU). Recent reports have postulated a changing pattern of underlying nephropathy over the last decades. Retrospective investigation including all patients with prior or present IVDU that underwent renal biopsy because of chronic kidney disease between 01.04.2002 and 31.03.2012 in the city of Frankfurt/Main, Germany. Twenty four patients with IVDU underwent renal biopsy because of progressive chronic kidney disease or proteinuria. Renal AA-amyloidosis was the predominant cause of renal failure in 50% of patients. Membranoproliferative glomerulonephritis (GN) was the second most common cause found in 21%. Patients with AA-amyloidosis were more likely to be HIV infected (67 vs.17%; p=0.036) and tended to have a higher rate of repeated systemic infections (92 vs. 50%; p=0.069). Patients with AA-amyloidosis presented with progressive renal disease and nephrotic-range proteinuria but most patients had no peripheral edema or
Amyloid diseases in man are caused by as many as 23 different pre-cursor proteins already described. Cardiologists predominantly encounter three main types of amyloidosis that affect the heart: light chain (AL) amyloidosis, senile systemic amyloidosis (SSA) and hereditary amyloidosis, most commonly caused by a mutant form of transthyretin. In the third world, secondary amyloid (AA) is more prevalent, due to chronic infections and inadequately treated inflammatory conditions. Much less common, are the non-transthyretin variants, including mutations of fibrinogen, the apolipoproteins apoA1 and apoA2 and gelsolin. These rarer types do not usually cause significant cardiac compromise. Occurring worldwide, later in life and of less clinical significance, isolated atrial amyloid (IAA) also involves the heart. Heart involvement by amyloid often has devastating consequences. Clinical outcome depends on amyloid type, the extent of systemic involvement and the treatment options available. An exact ...
Title. Using High-Dose Melphalan Plus Peripheral Stem Cell Transplantation to Treat Patients with Primary Systemic Amyloidosis (A Phase II Study). Sponsor. Eastern Cooperative Oncology Group through the NCI-sponsored Cancer Cooperative Group Program. Purpose of the Study. The purpose of this study was to evaluate the safety and effectiveness of high doses of the chemotherapy drug melphalan plus peripheral stem cell transplantation in treating patients who have primary systemic amyloidosis. Amyloidosis is a disease in which a certain type of protein is deposited in various organs, causing abnormal function. It can be caused by cancer or some other disease, or may have no known cause.. Results. The purpose of this study was to evaluate the safety and effectiveness of high doses of the chemotherapy drug melphalan plus peripheral stem cell transplantation in treating patients who have primary systemic amyloidosis. Amyloidosis is a disease in which a certain type of protein is deposited in various ...
The systemic amyloidoses are a number of disorders of varying etiology characterized by extracellular protein deposition. The most common form is an acquired amyloidosis secondary to multiple myeloma or monoclonal gammopathy of unknown significance (MGUS) in which the amyloid is composed of immunoglobulin light chains. In addition to light chain amyloidosis, there are a number of acquired amyloidoses caused by the misfolding and precipitation of a wide variety of proteins. There are also hereditary forms of amyloidosis.. The hereditary amyloidoses comprise a group of autosomal dominant, late-onset diseases that show variable penetrance. A number of genes have been associated with hereditary forms of amyloidosis, including those that encode transthyretin, apolipoprotein AI, apolipoprotein AII, fibrinogen alpha chain, gelsolin, cystatin C and lysozyme. Apolipoprotein AI, apolipoprotein AII, lysozyme, and fibrinogen amyloidosis present as non-neuropathic systemic amyloidosis, with renal dysfunction ...
A 62-year-old male smoker was reviewed for increasing dyspnoea, hoarseness and stridor. The patient underwent a bronchoscopic examination of the airway that revealed two large kissing fleshy tracheal lesions just below the vocal cords (figure 1). A biopsy was taken. The histological image (figure 2) was stained using a Congo Red Staining Kit which selectively demonstrates amyloid in the biopsy sample as bright pink and is marked A in the image. The darker coloured cells represent airway epithelium. Pulmonary amyloidosis is rare and patients may present with tracheobronchial infiltration, parenchymal infiltration (amyloidoma), persistent pleural effusions or pulmonary hypertension. Symptoms of tracheobronchial amyloidosis include hoarseness, stridor, dyspnoea and overt airway obstruction. Invasive bronchoscopic therapies such as argon photocoagulation, bronchoscopic Nd:YAG laser debulking or surgical debulking may be required to relieve the obstruction.1. ...
Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a form of amyloidosis primarily presenting in the kidney. It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). and, less commonly, with congenital mutations in apolipoprotein A1 and lysozyme. It is also known as Ostertag type, after B. Ostertag, who characterized it in 1932 and 1950. Amyloid. Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN (2009). Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis. Journal of the American Society of Nephrology : JASN. 20 (2): 444-51. doi:10.1681/ASN.2008060614. PMC 2637055 . PMID 19073821. Uemichi T, Liepnieks JJ, Gertz MA, Benson MD (September 1998). Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal ...
Results were recently published for the first trial of CPHPC as a therapy to clear out age-related deposits of the type of amyloid formed from misfolded transthyretin, normally responsible for transporting the thyroid hormone thyroxine in blood and cerebrospinal fluid. Amyloids are one of the distinguishing features of older tissues, and clearing them will be one of the necessary outcomes produced by any comprehensive suite of rejuvenation therapies developed in the near future.. The accumulation of transthyretin amyloid creates a condition known as senile systemic amyloidosis where it occurs to varying degrees for everyone in later life, and TTR amyloidosis when it arises in young people due to inherited mutations. Senile systemic amyloidosis is known to be responsible for a sizable fraction of deaths in supercentenarians, as the amyloid deposits clog the cardiovascular system to the point of failure. This process is also thought to play an underappreciated role in heart failure in the younger ...
The nonspecific and often vague nature of symptoms that are associated with AL amyloidosis frequently leads to delays in diagnosis such that organ dysfunction is advanced by the time treatment is initiated. The diagnosis of AL amyloidosis should be considered in patients with unexplained proteinuria, cardiomyopathy, neuropathy, or hepatomegaly and in patients with multiple myeloma that has atypical manifestations.. The diagnosis of AL amyloidosis requires (1) demonstration of amyloid in tissue and (2) demonstration of a plasma cell dyscrasia. Tissue amyloid deposits demonstrate apple-green birefringence when stained with Congo red and viewed under polarizing microscopy. Fine-needle aspiration of abdominal fat is a simple procedure that is positive for amyloid deposits in ,70% of patients with AL amyloidosis (15,16). Other tissues that allow for relatively noninvasive biopsy procedures are the minor salivary glands, gingiva, rectum, and skin. However, obtaining tissue from an affected organ may ...
Background: Cardiac involvement in primary amyloidosis (AL) is associated with poor prognosis. We studied the prognostic significance of clinical, ECG and echocardiographic parameters of patients with primary cardiac amyloidosis.. Methods: 60 patients with primary amyloidosis and cardiac involvement documented by endomyocardial tissue biopsy were studied.. Results: 60 patients (mean age 57.94±10.22 years; 71.67% male and 86.67% Caucasian) were studied. The median survival was 12.23 (median) ±4.43 months, 50% of patients survived for more than 1 year. Congestive heart failure (NYHA II-IV) was present in 60% of patients. Low voltage, Q wave, conduction abnormalities, first degree AV block and abnormal QRS axis were present in 54.24%, 51.72%, 71.67%, 21.67% and 57.72% respectively. Echocardiogram revealed LVH, mitral regurgitation, left atrial enlargement, speckled appearance and pericardial effusion in 82.76%, 62%, 63.16%, 8.77% and 42.11% respectively. LVEF, RVSP, IVS and LVPW were 0.479±.129, ...
amyloidosis - MedHelps amyloidosis Center for Information, Symptoms, Resources, Treatments and Tools for amyloidosis. Find amyloidosis information, treatments for amyloidosis and amyloidosis symptoms.
Hereditary amyloidosis - MedHelps Hereditary amyloidosis Center for Information, Symptoms, Resources, Treatments and Tools for Hereditary amyloidosis. Find Hereditary amyloidosis information, treatments for Hereditary amyloidosis and Hereditary amyloidosis symptoms.
Define familial amyloidosis. familial amyloidosis synonyms, familial amyloidosis pronunciation, familial amyloidosis translation, English dictionary definition of familial amyloidosis. n. Any of a group of diseases or conditions characterized by the formation and deposition of amyloid in various organs and tissues of the body.
TY - JOUR. T1 - Unusual bleeding manifestations in a case of primary amyloidosis with factor X deficiency but elevations of in vivo markers of thrombin formation and activity. AU - Marcatti, Magda. AU - Mauri, Simona. AU - Tresoldi, Moreno. AU - Sabbadini, Maria G.. AU - ViganoDAngelo, Silvana. AU - Safa, Omid. AU - Rugarli, Claudio. AU - DAngelo, Armando. PY - 1995/11/15. Y1 - 1995/11/15. N2 - We describe a case of primary amyloidosis (AL) with severe factor X (FX) deficiency in an amateur cyclist presenting with muscular pain at rest and ecchymoses in his legs. No circulating inhibitor of FX was found by mixing studies and there was no deficiency of other vitamin K-dependent coagulation factors and inhibitors or of α2-antiplasmin. Thrombin-time and reptilase time were abnormally prolonged and were not corrected by mixing with normal plasma. Administration of plasma or prothrombin complex concentrate (PCC) were unsuccessful in controlling bleeding: the apparent half-life of transfused FX ...
Aim: Cardiac troponins and natriuretic peptides are established for risk stratification in light-chain amyloidosis. Data on cardiac biomarkers in transthyretin amyloidosis (ATTR) are lacking.. Methods and results: Patients (n = 1617) with any of the following cardiac biomarkers, BNP (n = 1079), NT-proBNP (n = 550), troponin T (n = 274), and troponin I (n = 108), available at baseline in the Transthyretin Amyloidosis Outcomes Survey (THAOS) were analyzed for differences between genotypes and phenotypes and their association with survival. Median level of BNP was 68.0 pg/mL (IQR 30.5-194.9), NT-proBNP 337.9 pg/mL (IQR 73.0-2584.0), troponin T 0.03 μg/L (IQR 0.01-0.05), and troponin I 0.08 μg/L (IQR 0.04-0.13). NT-proBNP and BNP were higher in wild-type than mutant-type ATTR, troponin T and I did not differ, respectively. Non-Val30Met patients had higher BNP, NT-proBNP and troponin T levels than Val30Met patients, but not troponin I. Late-onset Val30Met was associated with higher levels of ...
Looking for online definition of amyloidosis syndrome in the Medical Dictionary? amyloidosis syndrome explanation free. What is amyloidosis syndrome? Meaning of amyloidosis syndrome medical term. What does amyloidosis syndrome mean?
Vaginopathic and proteolytic Candida species in outpatients attending a gynecology clinic. part 2 Pulmonary amyloidosis: the Mayo Clinic experience from 1980 to 1993
Amyloidosis is the most serious complication of FMF, leading to ESRD. According to older publications amyloidosis occurred in 60% of Turkish patients, in 27% of the non-Ashkenazi Jews, and in only 1-2% of Armenians living in the United States.11 12 The frequent occurrence of amyloidosis and its dramatic variation among different ethnic groups raises a question as to the inherent relation with FMF and whether it is transmitted by the gene for FMF or as a separate genetic trait. The fact that some subjects develop amyloidosis without febrile episodes (phenotype II) may suggest that the predilection for amyloid is a part of the underlying genetic background of FMF. Thus the search for a specific amyloid associated mutation may be a conceivable approach in order to test this hypothesis.. Colchicine has been shown to be effective in controlling attacks of FMF as well as preventing the development of amyloidosis.13Because most of the patients in Israel are treated with colchicine, it is quite ...
Daratumumab, an anti-CD38 antibody, is effective in AL amyloidosis with low tumor burden. Data of daratumumab treatment in patients with AL amyloidosis but high tumor burden (≥ 10% bone marrow plasma cells) is limited. We report retrospective data of ten consecutive patients with high tumor burden treated with daratumumab for relapsed/refractory AL amyloidosis. The median age at diagnosis was 62.3 years, all patients had cardiac involvement, and six (60%) patients had renal involvement. Median bone marrow plasma cell infiltration was 15% (range 10%-40%), and the median difference between involved and non-involved free light-chains (dFLC) was 446 mg/L (range 102-1392 mg/L). Patients had a median of three prior lines of therapy, including bortezomib in all patients, and lenalidomide in seven (70%) patients. The median time to first hematological response was 14 days (range 7-28 days), and the median time to best hematological response was 64 days (range 7-301 days). The hematological overall ...
Purpose: Few scintigraphic tracers are informative on myocardial amyloid infiltration. We aimed to assess: the accuracy of 99mTc-DPD scintigraphy in differential diagnosis between primary (AL) and transthyretin-related (TTR) (both mutant and wild-type) echocardiographically diagnosed amyloidotic cardiomyopathy (AC); the role of 99mTc-DPD in detecting cardiac amyloidosis across a wide spectrum of myocardial involvement in TTR amyloidosis; the prognostic role of 99mTc-DPD in TTR etiology.. Methods: We evaluated: 39 patients with AL-AC; 55 patients with TTR-AC (37 mutant; 19 wild-type); 21 hereditary TTR (ATTR) patients or asymptomatic TTR mutations carriers (6 Val30Met, 15 non-Val30Met) without any echocardiographic abnormalities. Myocardial uptake of 99mTc-DPD (740 MBq iv) was semiquantitatively/visually assessed at 3 h (and 5 min).. Results:. Semiquantitative measures of late (3 h) 99mTc-DPD uptake were ∼2-3 fold higher in TTR-AC (table). A visual score = 2 was accurate in identifying TTR ...
Systemic AA amyloidosis is a worldwide occurring protein misfolding disease of humans and animals. It arises from the formation of amyloid fibrils from the acute phase protein serum amyloid A. Here, we report the purification and electron cryo-microscopy analysis of amyloid fibrils from a mouse and a human patient with systemic AA amyloidosis. The obtained resolutions are 3.0 Å and 2.7 Å for the murine and human fibril, respectively. The two fibrils differ in fundamental properties, such as presence of right-hand or left-hand twisted cross-β sheets and overall fold of the fibril proteins. Yet, both proteins adopt highly similar β-arch conformations within the N-terminal ~21 residues. Our data demonstrate the importance of the fibril protein N-terminus for the stability of the analyzed amyloid fibril morphologies and suggest strategies of combating this disease by interfering with specific fibril polymorphs ...
The most common cause of death in familial Mediterranean fever is renal failure secondary to amyloidosis (1). Despite the occurrence of extrarenal amyloidosis in patients with this disease, failure of other organs is uncommon (1). At least four patients have been treated with transplantation for renal failure, and no recurrence of amyloidosis has been reported in these allograft kidneys (2-5). (While this paper was in press, a similar report appeared: Benson MD, Skinner M, Cohen AS: Amyloid deposition in renal transplant in familal Mediterranean fever. Ann Intern Med 87:31-34, 1977.). A patient with familial Mediterranean fever who received an allograft ...
Findings of secondary corneal amyloidosis with ultrahigh-resolution optical coherence tomography Kaoru Araki-Sasaki,1 Yasuhiro Osakabe,2 Hideki Fukuoka,3 Ryuichi Ideta,4 Koji Hirano5 1Department of Ophthalmology, Japan Community Health Care Organization, Hoshigaoka Medical Center, Hirakata, 2Department of Molecular Pathology, Tokyo Medical University, Tokyo, 3Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, 4Ideta Eye Hospital, Kumamoto, 5Department of Ophthalmology, Ban Buntane Hotokukai Hospital, School of Medicine, Fujita Health University, Nagoya, Japan Purpose: To describe observations by ultrahigh-resolution optical coherence tomography (OCT) in a secondary corneal amyloidosis (SCA) patient with histological analysis of excised tissue. A unique finding under OCT of her fellow eye is also described.Case: A 39-year-old female had suffered from trichiasis in both of her eyes for more than 30 years. Slit-lamp examination showed a milky-white soft mass on her left cornea
Systemic AA amyloid deposition is always accompanied by increased SAA production, whether triggered by tissue damage, infection, or abnormal proinflammatory cytokine activity (26⇓⇓⇓-30). The transgenic mice reported here allowed us to induce expression of the amyloidogenic mouse SAA isoform, SAA2, by oral administration of doxycycline, completely independently of any inflammatory stimulus. Neither doxycycline exposure nor induction of SAA production itself triggered an acute phase response of other proteins. Thus, contrary to claims in the literature, circulating mouse SAA, like authentic human SAA (31), is clearly not intrinsically proinflammatory. Furthermore, although AA amyloidosis has hitherto been inextricably linked to systemic inflammation, the present results demonstrate that isolated overproduction of SAA, without inflammation, is sufficient.. In common with models in which AA amyloidosis is evoked by potently inducing inflammation, transgenic mice induced to express SAA at high ...
Personalized cardiac amyloidosis treatment from experts in AL amyloidosis & TTR amyloidosis. We offer South Carolinas only heart & liver transplant programs.
There are various symptoms of Amyloidosis. The symptoms of Amyloidosis are associated with the organs where the protein deposits are more. If the protein gets deposited in heart, it can cause heart failure and arrhythmia. If the respiratory tract is affected, then there can be blood through sputum and if the protein deposits are around spleen, it can cause ruptured spleen. If the digestive tract is affected, it can lead to diarrhea, vomiting, bleeding through anal canal and so on ...
Amyloidosis is a group of protein misfolding diseases characterized by extracellulardeposition of fibrillar protein aggregates. Today more than 25 different human amyloidogenicproteins have been identified, causing a variety of pathological conditions that includeAlzheimers disease, type 2 diabetes and prion diseases. Amyloid A (AA) amyloidosis is acomplication to long standing inflammatory disorders and amyloid is formed from N-terminalfragments of the acute phase protein serum amyloid A. AA amyloidosis developsspontaneously in many mice strains in response to inflammatory stimulation. Amyloidformation is nucleation dependent and develops after a lag phase of months. If an extract fromamyloid loaded tissue is administered to the animal, the lag phase is shortened to days. Thetissue extract is referred to as amyloid enhancing factor, AEF.. In paper I we demonstrate that the active component of AEF is the amyloid fibril itself. We doalso show that AEF retains its activity over a long period of ...
Savage, A; Hinton, C; and Tribe, C R., Experimental murine amyloidosis ii: effect of penicillamine therapy. (1980). Subject Strain Bibliography 1980. 270 ...
Systemic amyloidosis (AL) is a plasma cell dyscrasia in which the clone secretes free kappa (κ) or lambda(λ)-immunoglobulin light chains (FLCs).1 These light chains do not fold into the proper tertiary conformation and form protein deposits, causing organ damage.2 The most commonly affected organs are the heart, liver, kidney, gut, and peripheral nerves.3 Standard treatment for patients with good performance status includes high-dose melphalan with autologous stem cell transplantation (ASCT).1,4 Patients with organ dysfunction have increased transplant-related mortality.5,6 Medications that treat AL without increasing the mortality of definitive treatment, currently ASCT, are sought. Bortezomib is a proteasome inhibitor that is effective in the treatment of plasma cell dyscrasias.7 We utilized bortezomib to treat 2 patients with recurrent AL after initial ASCT. Both patients provided written informed consent according to the Helsinki Convention for their initial treatment, for ASCT, for ...
The amyloidoses are a group of rare diseases that are a consequence of abnormal protein (amyloid) deposits in various body tissues and organs. Characterized as systemic or localized, light chain-associated amyloidosis (AL) is the most common form of systemic amyloid disease, with an estimated 4,500 new cases each year in the United States. Systemic amyloid disease can cause serious damage to virtually any organ of the body, including the kidneys, heart, and lungs.. The University of Tennessee Health Science Centers Jonathan Wall, PhD, professor in the Graduate School of Medicine and director of the Amyloidosis and Cancer Theranostics Program in Knoxville, has been studying amyloidosis for over 20 years. He recently received a new three-year grant totaling $1,050,000 from the National Institutes of Health to study Pre-targeting Immunotherapy for Light Chain (AL) Amyloidosis. For this project, Dr. Wall is working to develop a novel, two-stage immunotherapy that will increase the success of ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Familial amyloidosis, Finnish type
Their purpose is to prevent the formation of new deposits of amyloidosis by stabilising Transthyretin and blocking its production. The treatments available so far are only able to slow down the progression and even to stop it but not to get rid of the symptoms already present.. a) Liver transplant The purpose of a liver transplant is to remove the main organ producing abnormal TTR protein even if the liver is functioning perfectly well otherwise. A liver transplant is a complicated operation that needs to be performed in a specialized centre.. This treatment has been offered to over 2000 patients worldwide. It has been effective in stopping the progression of the disease in a large majority of cases (70%) treated in their early stages. It is not advised for patients who developed the disease late in life or for carriers of a certain type of mutation. It cannot be performed on patients over 70 years old.. In spite of the transplant, the disease sometimes continues to develop in the nervous system ...
The amyloid diseases (amyloidoses) are classified according to the type of amyloid protein present as well as the underlying disease. Amyloid diseases have a number of common characteristics including each amyloid consisting of a unique type of amyloid protein. The amyloid diseases include, but are not limited to, the amyloid associated with Alzheimers disease, Downs syndrome, hereditary cerebral hemorrhage with amyloidosis of the Dutch type, dementia pugilistica, inclusion body myositosis (Askanas et al,Ann. Neurol 43:521-560, 1993) and mild cognitive impairment (where the specific amyloid is referred to as beta-amyloid protein or Ap), the amyloid associated with chronic inflammation, various forms of malignancy and Familial Mediterranean Fever (where the specific amyloid is referred to as AA amyloid or inflammation-associated amyloidosis), the amyloid associated with multiple myeloma and other B-cell dyscrasias (where the specific amyloid is referred to as AL amyloid), the amyloid associated ...
Pleural involvement with systemic amyloidosis has been reported rarely in the literature. Diagnosis of this entity by percutaneous needle biopsy of the pleura has been described only in two prior case reports. We describe five patients in whom the diagnosis of pleural amyloidosis was established by …
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The University of Florida Academic Health Center - the most comprehensive academic health center in the Southeast - is dedicated to high-quality programs of education, research, patient care and public service.. The UF College of Dentistry is the only public-funded dental school in Florida and is recognized as one of the top U.S. dental schools for the quality of its educational programs, oral health research enterprise and commitment to patient care and service.. The College of Medicine, the largest of six colleges at the University of Florida Academic Health Center, opened in 1956 with a mission to increase Floridas supply of highly qualified physicians, provide advanced health-care services to Florida residents and foster discovery in health research.. Founded in 1956, the University of Florida College of Nursing is the premier educational institution for nursing in the state of Florida and is ranked in the top 10 percent of all nursing graduate programs nationwide. The UF College of Nursing ...
The studies by Meyer-Luehman et al. extend insights into the in vivo formation of amyloid deposits by amyloid seeds that may be hetero- and/or homo-amyloidogenic inducers of amyloid fibrillization. This is significant because these types of studies will lead to the clarification of the perplexing conundrum of why there is a frequent co-occurrence of multiple different types of amyloids in neurodegenerative disorders characterized by brain amyloidosis. Indeed, double and triple neurodegenerative brain amyloidoses appear to far exceed in incidence and prevalence any neurodegenerative brain amyloidosis linked to a single amyloidogenic protein or peptide, and this enigma demands clarification if we are to develop more effective therapies for these disorders.. For example, with respect to Aβ deposits, these may occur by themselves as pathological signatures of single brain amyloidoses, such as cerebral amyloid angiopathy (CAA), which most commonly manifests clinically as stroke. This ...
Mid June the Echocardiogram was reviewed and it was clear that the heart had worsened. The question was why. It could be idiopathic, amyloidosis, multiple myeloma or some other rare infiltrative process. It was time to break the silence. Barbie sent out an email to a few friends in California and Connecticut and we told our family. On July 1st, I informed my partners in our monthly meeting that I had restrictive cardiomyopathy and was waiting for a biopsy to determine if it was amyloidosis. I said I would continue to work. The news spread like wildfire. The response was overwhelming and somewhat difficult for me to adjust to. I was not accustom to being the individual in need; my role was always the opposite, to support others in their suffering. I did not want people to worry about me. This would begin a huge personal transformation in how I saw myself and the need to always be in control. This would be a very important life lesson for me.. I was scheduled for a fat biopsy and referred to the ...
Alzheimers disease (AD) is characterized by amyloidosis of brain tissues. This phenomenon is studied with genetically-modified mouse models. We propose a method to quantify amyloidosis in whole 5xFAD mouse brains, a model of AD. We use optical projection tomography (OPT) and a random forest voxel classifier to segment and measure amyloid plaques. We validate our method in a preliminary cross-sectional study, where we measure 6136 +/- 1637, 8477 +/- 3438, and 17267 +/- 4241 plaques (AVG +/- SD) at 11, 17, and 31 weeks. Overall, this method can be used in the evaluation of new treatments against AD. (C) 2019 Optical Society of America under the terms of the OSA Open Access Publishing Agreement Nguyen, David; Uhlmann, Virginie; Planchette, Arielle L.; Marchand, Paul J.; Van de Ville, Dimitri; Lasser, Theo; Radenovic, Aleksandra
Alexion Pharmaceuticals, which has a significant research presence in New Haven, is teaming up with a New Jersey-based drugmaker to do clinical testing on a drug designed to treat a rare disorder involving an abnormality of plasma cells in the bone marrow.. The Phase III testing that researchers from Alexion and Caelum Biosciences will be conducting will examine 370 individuals with varying stages of AL amyloidosis to see how they react to the drug candidate CAEL-101. The rare systemic disorder results in a deposit of misfolded amyloid proteins in tissues and organs and typically kills those suffering from it within a year. The testing will focus on how many of the research subjects are able to survive as a result of taking the drug.. Phase III testing is the final step in the drug development process before the federal Food and Drug Administration considers approving a treatment for sale to the public. ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for AL amyloidosis
Monoclonal Gammopathies:. - A characteristic monoclonal band (M-spike) is often found on protein electrophoresis (PEL) in the gamma-globulin region and more rarely in the beta or alpha-2 regions. The finding of a M-spike, restricted migration, or hypogammaglobulinemic PEL pattern is suggestive of a possible monoclonal protein and should be followed by MPSU / Monoclonal Protein Study, 24 Hour, Urine, which includes immunofixation (IF), to identify the immunoglobulin heavy chain and/or light chain.. - A monoclonal IgG or IgA greater than 3 g/dL is consistent with multiple myeloma (MM).. - A monoclonal IgG or IgA less than 3 g/dL may be consistent with monoclonal gammopathy of undetermined significance (MGUS), primary systemic amyloidosis, early or treated myeloma, as well as a number of other monoclonal gammopathies.. - A monoclonal IgM greater than 3 g/dL is consistent with macroglobulinemia.. - The initial identification of a serum M-spike greater than 1.5 g/dL on PEL should be followed by MPSU ...
Missense mutations in APP and PS1 lead to familial forms of AD by different mechanisms. Most PS1 mutations shift γ‐secretase cleavage to increased Aβ42 production, which in turn accelerates cerebral amyloidosis in transgenic mice (Borchelt et al, 1997; Holcomb et al, 1998; Siman et al, 2000). An inverse correlation between the Aβ42 to Aβ40 ratio and the age of onset in familial AD has also been reported (Duering et al, 2005).. Mutations at position Leu 166 in PS1 lead to a severe course of AD pathology, with a very early onset in the third or fourth decade of life. So far, three mutations at position Leu 166 (L166A, L166P and L166H) have been described; the L166P mutation seems to be the most pathogenic (Ezquerra et al, 2000; Moehlmann et al, 2002; Pantieri et al, 2005). Expressing PS1‐L166P in transfected cells resulted in the highest Aβ42 to Aβ40 ratio among several PS1 mutations (Moehlmann et al, 2002). However, in contrast to other PS1 mutations, the L166P mutation has been shown ...
In lichen amyloidosis, there is an abnormal deposition of amyloid material in the skin which produces chronic itchy skin rash. It is usually accompanied with atopic dermatitis, lichen planus and fungus infection.
The green tea that you drink to lose those extra pounds has many other powerful effects as a compound found in this super-drink may have a life saving potential for people with bone-marrow disorders, reveals a study.. The research appeared in the Journal of Biological Chemistry.. Researchers from Washington University in St. Louis in the U.S. and their German collaborators found that a compound epigallocatechine-3-gallate (EGCG), a polyphenol found in green tea leaves, may be of particular benefit to patients struggling with multiple myeloma and amyloidosis, often-fatal medical complications associated with bone-marrow disorders.. These patients are susceptible to a frequently fatal condition called light chain amyloidosis, in which parts of the bodys own antibodies become misshapen and can accumulate in various organs, including the heart and kidneys, said study author Jan Bieschke from Washington University in St. Louis in the U.S.. The idea here is twofold: We wanted to understand how ...
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The amyloidoses comprise a heterogeneous group of diseases in which 1 out of more than 25 human proteins aggregates into characteristic beta-sheet fibrils with some unique properties. Aggregation is nucleation dependent. Among the known amyloid-forming constituents is the prion protein, well known for its ability to transmit misfolding and disease from one individual to another. There is increasing evidence that other amyloid forms also may be transmissible but only if certain prerequisites are fulfilled. One of these forms is systemic AA-amyloidosis in which an acute-phase reactant, serum AA, is over-expressed and, possibly after cleavage, aggregates into amyloid fibrils, causing disease. In a mouse model, this disorder can easily be transmitted from one animal to another both by intravenous and oral routes. Also, synthetic amyloid-like fibrils made from defined small peptides have this property, indicating a prion-like transmission mechanism. Even some fibrils occurring in the environment can ...
Plasma cell dyscrasias are characterized by uncontrolled proliferation of a single clone of B cells which is responsible for the secretion of a monoclonal immunoglobulin (Ig) or Ig subunit that can become deposited in tissues. They can cause a wide range of renal diseases.Light-chain amyloidosis-renal presentation is usually with proteinuria, often progressing to nephrotic syndrome. Progressive decline in renal function usually occurs, leading finally to endstage renal failure. Diagnosis is made by the detection of monoclonal gammopathy in serum and/or urine (90% of cases) in combination with biopsy evidence of amyloid- forming light chain deposits. Chemotherapy with oral mephalan plus dexamethasone should be considered as first line treatment....
Results:. The main associated diseases with LIP were Sjögren syndrome (42%), human immunodeficiency virus infection (17%), amyloidosis (17%), Sjögren syndrome associated with secondary amyloidosis (11%), idiopathic (8%), and systemic lupus erythematosus (5%). The predominant CT abnormalities were multiple cystic airspaces (n = 35), small nodules (n = 15), ground-glass opacities (n = 13), bronchiectasis and/or bronchiolectasis (n = 8), and thickening of the bronchovascular bundles (n = 8). Other CT findings included reticular opacities (n = 7), calcified nodules (n = 4), airspace consolidation (n = 4), emphysema (n = 3), honeycombing (n = 3), lymph node enlargement (n = 2), mosaic attenuation pattern (n = 1), and cavitated nodules (n = 1). ...
Many chronic human diseases are associated with misfolding or aggregation of particular proteins or their fragments. Notable examples include Alzheimers disease, Parkinsons disease, Huntingtons disease, bovine spongiform encephalopathy (mad cow disease), human prion diseases, and light chain amyloidosis. Covers the underlying protein and cell biochemistry, including folding of newly synthesized polypeptide chains within cells; unfolding and refolding of proteins in vitro; folding intermediates, aggregation, and competing off-pathway reactions; amyloid fibril structure and polymerization; amyloids that produce biofilms, pigments, and other functional structures; roles of chaperonins, isomerases, and other helper proteins. Examines key model systems, including yeast, nematodes, flies and mice, as well as human pathologies and phenotypes ...
Title:Quantum Dots as Promising Theranostic Tools Against Amyloidosis: A Review. VOLUME: 26 ISSUE: 8. Author(s):M.P. Taraka Prabhu and Nandini Sarkar*. Affiliation:Department of Biotechnology and Medical Engineering, National Institute of Technology Rourkela, Rourkela- 769008, Odisha, Department of Biotechnology and Medical Engineering, National Institute of Technology Rourkela, Rourkela- 769008, Odisha. Keywords:Protein quality control, amyloid, degenerative disorders, small molecule inhibitors, quantum dots, aggregates.. Abstract:Amyloids are highly ordered beta sheet rich stable protein aggregates, which have been found to play a significant role in the onset of several degenerative diseases such as Alzheimers disease, Huntingtons disease, Parkinsons disease, Type II diabetes mellitus and so on. Aggregation of proteins leading to amyloid fibril formation via intermediate(s), is thought to be a nucleated condensation polymerization process associated with many pathological conditions. There ...
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