Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “AMYLOIDOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,531 records · Page 85Linked to original sources
PubMed1999

Familial amyloidosis in cats: Siamese and Abyssinian AA proteins differ in primary sequence and pattern of deposition.

Familial AA amyloidosis is a hereditary trait in Abyssinian cats, with the kidney as the main target organ. The amino acid sequence of the amyloid A protein of the Abyssinian cat has been described earlier. Recently, familial amyloidosis has been found in Siamese cats, with the liver as the main target organ. In the present paper, we describe the complete amino amid sequence of the major constituent protein, of two Siamese cats. Siamese hepatic protein AA showed homology with, but was different from all feline SAA and AA sequences hitherto reported. Two substitutions (46Q-R and 52A-V) from the Abyssinian protein sequence were identified, one of which (46Q-R) is a non-homologous substitution not found in mammalian SAA, but is present in two bird AA amyloid proteins. This shows the presence of an unique amyloidogenic SAA isotype in Siamese cats. Both the Siamese and the Abyssinian sequence are amyloidogenic, thus making identification of amyloidogenic residues difficult. Apart from the apparent inherent amyloidogenicity of SAA, it can not be excluded that certain amino acid substitutions could enhance its amyloidogenicity but also could contribute to tissue predilection in amyloidosis.

Amino Acid Sequence↗
PubMed1999

Abnormalities in thrombin-antithrombin pathway in AL amyloidosis.

Various pathogenic factors have been proposed to explain the abnormal hemostasis observed in AL amyloidosis. Since imbalance between clotting factors and inhibitors could play a pathogenic role in both hemorrhagic and thrombotic manifestations, we investigated the thrombin-antithrombin pathway in 35 patients with AL amyloidosis. Ten patients suffered from bleeding while 3 patients experienced deep venous thrombosis. Thrombin time was prolonged in 29 subjects, the mean values of antithrombin III activity (ATIII Act) were significantly lower than those of antithrombin III antigen (ATIII Ag) with loss of relationship between these two different techniques of ATIII detection, normally observed in healthy controls. In 19 patients increased levels of thrombin-antithrombin (TAT) complexes were present. Crossed immunoelectrophoresis of ATIII, performed in presence of heparin, evidenced ATIII forms with reduced binding capacity to heparin and TAT complexes of various electrophoretic mobilities. In conclusion, the impairment of the thrombin-antithrombin pathway, in association with the low ATIII biological activity, might play a pathogenic role in the hypercoagulable state reported in AL amyloidosis, despite the higher frequency of bleeding manifestations.

Adult↗
PubMed1999

Nodular lung disease with five year survival and unilateral pleural effusion in AL amyloidosis.

A 67-year-old female patient with biopsy proven AL systemic amyloidosis developed rapidly progressive dyspnea. Chest roentgenogram and CT scan revealed a large right pleural effusion in addition to nodular lesions with bilateral hilar lymphadenopathy. The patient's serum showed IgG lambda type monoclonal gammopathy and she also had Bence Jones proteinuria. The pleural effusion was an exudate that contained many mononuclear cells and a high concentration of protein. Cardiac function was not seriously disturbed. Except for amyloidosis, no other causes for the severe pleural effusion were found. This patient was treated with chemical pleurodesis using Picibanil and a low dose of prednisolone. Eighteen months after this treatment, her right pleural effusion did not recur. Bronchopulmonary tissues are known to be frequently involved by AL systemic amyloidosis, but a nodular pattern of pulmonary amyloid deposition and a unilateral large pleural effusion are rare clinical manifestations in this disease.

Aged↗
PubMed1991

Speech disorders in systemic amyloidosis.

The purpose of this study was to define more completely the speech disorders that can occur in systemic amyloidosis. Fifty-nine patients with histologically established primary systemic amyloidosis were studied. Of this group, 81% had abnormal voice quality, 43% had abnormal pitch, 7% had abnormal resonation and 15% had abnormal articulation. Twenty-two patients also had abnormal findings at laryngeal examination, consisting of bowing, oedema, thickening, dry irritation and polypoid changes of the vocal folds. Macroglossia was found in 17% of the patients and submandibular swelling in 10%. These results support previous studies which showed that abnormal phonation is a sign of systemic amyloidosis and that abnormal voice is by far the most common abnormal speech sign. The relationship between amyloid deposit and dysphonia was not clear. In 23 patients who had laryngeal examinations, no evidence of actual amyloid deposits was documented.

Adult↗
PubMed2005

A case of femoral compressive neuropathy in AL amyloidosis.

We describe a case of a 54-yr-old AL amyloidosis patient who developed femoral compressive neuropathy due to iliopsoas pseudohypertrophy. The patient, who presented with end stage renal disease, was referred to our clinic because of lower extremity weakness and polyarthritis. Finally, he was diagnosed as having kappa-AL amyloidosis, complicated by femoral compressive neuropathy, hypertrophic amyloid myopathy, amyloid arthropathy, carpal tunnel syndrome, and end stage renal disease. Femoral compressive neuropathy has never been reported in association with amyloid induced iliopsoas hypertrophic myopathy. This report expands the clinical spectrum of AL amyloidosis.

Amyloidosis↗
PubMed2005

Association of secondary amyloidosis with common variable immune deficiency and tuberculosis.

This paper describes the first case of common variable immunodeficiency (CVID) and AA amyloidosis. A recently treated tuberculosis, and chronic inflammation induced by frequent respiratory tract infections, were thought to be responsible for the amyloidosis. No other reason for this condition could be detected. Although T cell dysfunction in some CVID patients has been reported, pulmonary tuberculosis is quite rare with this condition. Bacterial or viral agents or evidence in favour of intestinal tuberculosis, which would explain this patient's recurrent diarrhea, were not found. In this case, the response of the attacks of diarrhea to metranidazole and the histologic observation of extensive intestinal amyloid deposition, which is known to decrease intestinal motility, made us conclude that the diarrhea was associated with bacterial overgrowth. In this report, we discuss the association of CVID and tuberculosis to secondary amyloidosis and recurrent diarrhea.

Adult↗
PubMed2006

High-dose therapy and autologous hematopoietic stem cell transplantation for patients with primary systemic amyloidosis: a Center for International Blood and Marrow Transplant Research Study.

OBJECTIVE: To determine the outcome of high-dose therapy with autologous hematopoietic stem cell transplantation (HSCT) in patients with primary systemic amyloidosis reported to the Center for International Blood and Marrow Transplant Research (CIBMTR). PATIENTS AND METHODS: A total of 107 recipients of autologous HSCT for amyloidosis from 48 transplantation centers were reported to the CIBMTR between 1995 and 2001. Hematologic and organ responses were assessed at 100 days and 1 year. Transplantation-related mortality (TRM) was assessed at day 30 after HSCT. A multivariate analysis assessed factors that influenced overall survival. RESULTS: Improvement at day 100 was seen in 1 or more amyloidosis-affected sites (bone marrow, kidney, liver, and/or heart) in 28 (36%) of 77 patients; the 1-year responses included complete response (16%), partial response (16%), stable disease (31%), and disease progression (10%). With a median follow-up of 30 months, the 1- and 3-year survival rates were 66% (95% confidence interval [CI], 56%-75%) and 56% (95% CI, 45%-66%), respectively. The day 30 TRM was 18% (95% CI, 11%-26%). In the multivariate analysis, only the year of transplantation (patients who most recently underwent transplantation) was associated with post-HSCT survival (P-.02). CONCLUSION: In this multi-institutional CIBMTR study, the 3-year survival rate was comparable to single-center results, with patients who more recently underwent transplantation faring better. Of note, the TRM was higher than that reported by single centers, which may reflect differences in patient selection and/or experience in treating this challenging disease. We hope that a better understanding of the recently recognized prognostic factors and more stringent patient selection will result in lower TRM and improved survival.

Adult↗
PubMed2005

[Idiopathic local bladder amyloidosis].

OBJECTIVE: To report one case of primary bladder amyloidosis. METHODS: We studied a male patient with asymptomatic hematuria by means of transurethral resection. RESULTS: Pathologic features were consistent with amyloidosis of the bladder wall. We cannot prove either sites of amyloid deposits or an etiology for this disease. CONCLUSIONS: Local idiopathic bladder amyloidosis is a very rare disease and the most common presenting symptom is painless hematuria. It may be difficult to differentiate between this disease and a urothelial bladder neoplasia.

Adult↗
PubMed2003

Amyloid A gastrointestinal amyloidosis associated with idiopathic retroperitoneal fibrosis. Report of a rare autopsy case and review of the literature.

We report a rare autopsy case of secondary gastrointestinal amyloid A (AA) amyloidosis associated with idiopathic retroperitoneal fibrosis (IRF) in a 67-year-old woman. Masses were identified around the aorta and inferior vena cava in her abdomen. Histologically, plasma cell infiltration was observed within fibrotic areas. Because no specific cause for the inflammatory mass was apparent, we diagnosed it as IRF. Steroid therapy, which usually reduces IRF masses, proved ineffective, and malabsorption syndrome developed 4 years later. On autopsy, amyloid protein was present systemically in the vascular walls of several organs, and deposition was highest in the gastrointestinal mucosa. Amyloid protein was identified as AA type, strongly suggesting that the amyloidosis was secondarily induced by IRF. To our knowledge, only 2 other cases of IRF-associated amyloidosis have been reported. Two of the 3 patients of these cases were women who showed resistance to steroid therapy.

Aged↗
PubMed2005

[Localized amyloidosis of the bladder treated effectively by occlusive dressing technique therapy using Dimethyl sulfoxide (DMSO): two case reports].

The first case is a 50-year-old female. She was consulted to our hospital for further examination of right hydronephrosis that was shown by ultrasonography. Cystoscopy revealed tumorous lesion around the right orifice. Bladder tumor was suspected and transurethral biopsy of the bladder was performed. The second case is a 54-year-old man. He was consulted to our hospital because right hydronephrosis was shown by counterized tomography. A tumorous or stenotic lesion in the lower end of ureter was suspected. Cystoscopy revealed yellowish and thickened tissue in the trigonal area. Bladder amyloidosis was suspected and transurethral biopsy of the bladder was performed. The histopathological diagnosis indicated amyloidosis and systemic amyloidosis was excluded. Both cases were treated by occlusive dressing technique therapy using Dimethyl sulfoxide (DMSO) successfully.

Administration, Cutaneous↗
PubMed1977

Prolonged colchicine treatment in four patients with amyloidosis.

The natural clinical course of four patients with systemic amyloidosis was favourably altered by continuous colchicine therapy. One patient had primary amyloidosis, and the other three suffered from amyloidosis of familial Mediterranean fever. All had a nephrotic syndrome, and one showed features of intestinal malabsorption. The institution of colchicine therapy was followed by a gradual remission of the nephrotic syndrome, a rise of serum albumin to normal values, a slight improvement of renal function, and regression of the intestinal malabsorption. This pattern has remained steady during an observation period of 30 months.

Adolescent↗
PubMed1978

Primary amyloidosis associated with Gaucher's disease.

Elevations in serum immunoglobulins, frequently monoclonal in nature, are known to occur in patients with the adult form of Gaucher's disease. We describe amyloidosis in a 46-year-old woman of Italian ancestry with Gaucher's disease, who also had 3100 mg/dl of monoclonal IgA. She died of restrictive cardiac disease. A 50-year-old sister, also with Gaucher's disease, had 1300 mg/dl of polyclonal IgM but no evidence of amyloidosis. A glucosyl sphingosine-Sepharose affinity column provided no evidence that the large amount of immunoglobulin present has specific affinity for glucosyl ceramide. This, to our knowledge, is the first report of amyloidosis complicating Gaucher's disease.

Amyloidosis↗
PubMed1983

Primary cardiac amyloidosis: an angiocardiographic clue to early diagnosis.

Restrictive cardiomyopathy produced by primary cardiac amyloidosis may have a clinical syndrome identical to noncalcific constrictive pericarditis. We report two patients with amyloidosis and restrictive physiology who had enlarged papillary muscles shown on left ventricular angiocardiogram. Rapid volume expansion with normal saline failed to produce ventricular filling pressure equilibration as in occult constrictive pericarditis. The absence of diastolic pressure equilibration and enlarged papillary muscles may permit early diagnosis of cardiac amyloidosis.

Amyloidosis↗
PubMed2002

Cholinergic changes in the APP23 transgenic mouse model of cerebral amyloidosis.

Alzheimer's Disease (AD) is a neurodegenerative disorder that is characterized by extracellular deposits of amyloid-beta peptide (Abeta) and a severe depletion of the cholinergic system, although the relationship between these two events is poorly understood. In the neocortex, there is a loss of cholinergic fibers and receptors and a decrease of both choline acetyltransferase (ChAT) and acetylcholinesterase enzyme activities. The nucleus basalis of Meynert (NBM), which provides the major cholinergic input to the neocortex, undergoes profound neuron loss in AD. In the present study, we have examined the cholinergic alterations in amyloid precursor protein transgenic mice (APP23), a mouse model of cerebral beta-amyloidosis. In aged APP23 mice, our results reveal modest decreases in cortical cholinergic enzyme activity compared with age-matched wild-type mice. Total cholinergic fiber length was more severely affected, with 29 and 35% decreases in the neocortex of aged APP23 mice compared with age-matched wild-type mice and young transgenic mice, respectively. However, there was no loss of cholinergic basal forebrain neurons in these aged APP23 mice, suggesting that the cortical cholinergic deficit in APP23 mice is locally induced by the deposition of amyloid and is not caused by a loss of cholinergic basal forebrain neurons. To study the impact of cholinergic basal forebrain degeneration on cortical amyloid deposition, we performed unilateral NBM lesions in adult APP23 mice. Three to 8 months after lesioning, a 38% reduction in ChAT activity and significant cholinergic fiber loss were observed in the ipsilateral frontal cortex. There was a 19% decrease in Abeta levels of the ipsilateral compared with contralateral frontal cortex with no change in the ratio of Abeta40 to Abeta42. We conclude that the severe cholinergic deficit in AD is caused by both the loss of cholinergic basal forebrain neurons and locally by cerebral amyloidosis in the neocortex. Moreover, our results suggest that disruption of the basal cholinergic forebrain system does not promote cerebral amyloidosis in APP23 transgenic mice.

Acetylcholinesterase↗
PubMed1999

[Pleural amyloidosis as a cause of excessive pleural effusions].

A 83-year-old woman known with a stable disease multiple myeloma was hospitalized frequently with dyspnoea caused by copious bilateral pleural effusions. Thoracentesis was performed repeatedly but pleural effusions returned. Extensive laboratory and radiological examinations failed to reveal the cause of the pleural effusions. Finally, after pleural biopsy the diagnosis of amyloidosis of the pleura could be made. The patient died in hospital from a stroke. Pleural amyloidosis is rarely reported and is accompanied by large uni- or bilateral pleural effusions even without amyloidosis of the heart.

Aged↗
PubMed1999

Human brain pericytes as a model system to study the pathogenesis of cerebrovascular amyloidosis in Alzheimer's disease.

Cerebrovascular amyloidosis belongs to the pathological hallmarks of Alzheimer's disease brains. Although definite proof is still lacking, it is very well possible that the amyloid and its associated proteins are produced locally in the brain. In this paper we describe the development of a model system of cultured human brain pericytes to study the mechanisms of microvascular amyloid formation in vitro. These cultured cells may serve to study several aspects of cerebrovascular amyloidosis, which include the production of the amyloid precursor protein and of amyloid beta-protein-associated proteins as well as cytotoxic effects of amyloid beta-protein on perivascular cells. We demonstrated that pericytes produce and metabolize the amyloid precursor protein, and that they produce amyloid beta-protein-associated proteins, such as heparan sulfate proteoglycans, apolipoprotein E, and complement factor C1q. They are also prone to cellular degeneration after treatment with amyloid beta-protein, which is accompanied by increased expression of a number of amyloid beta-protein-associated proteins. This may be an important mechanism to explain the cell death observed in vivo. Our data indicate that this cell culture model of human brain pericytes provides a useful and pathophysiologically relevant tool to study cerebrovascular amyloidosis.

Alzheimer Disease↗
PubMed1999

[Case of cardiac amyloidosis associated with IgG-K multiple myeloma in the framework of restrictive myocardiopathy].

Primary amyloidosis, due to amassing of fragments of light chains of IgG, often causes cardiac involvement. We describe a 65-year-old woman with multiple myeloma efficaciously treated with chemotherapy. Amyloidosis had been supported by myelic biopsy. The patient came to our observation because of right heart failure, hypotension and syncope: she was treated with a dopamine i.v. and was in cachectic status. She had a moderate pericardial effusion. ECG showed reduction of QRS amplitude, I degree atrioventricular block, posterior fascicular and right bundle branch block. Right cardiac catheterization showed a restrictive situation. After 1 week exitus occurred by asystole. In this case, there were other involvements by amyloidosis, besides the cardia one: that of autonomic nervous system and, probably, surrenal.

Aged↗
PubMed1996

Amyloidosis: a global problem common in Papua New Guinea.

The increase in different precursor proteins that have been shown to form amyloid fibrils and the identification of common properties have not yet led to any unifying theory or mechanism for the pathogenesis of amyloidogenesis. Papua New Guinea holds a unique place in the story of amyloidosis and in this article we review the current status of amyloidosis research indicating how this relates to those forms relevant to Papua New Guinea. This review concentrates on secondary reactive amyloid (AA), which is found in the highest frequency in the world in parts of Papua New Guinea, and kuru, in which the amyloid protein itself is infectious. The history, pathogenesis and future prospects for these diseases are discussed in the light of what is known about other forms of amyloidosis.

Amyloid↗