Database : MEDLINE Search on : Amyloid and Neuropathies [Words] References found : 1311 [refine] Displaying: 1 .. 10   in format [Detailed]

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[PMID]: 22784244 [Au] Autor: Liu JY; Jiang XM; Zhang M; Guo YJ [Ad] Address: Department of Neurology, First Hospital, Jilin University, Changchun, China. xiaohua208@sina.com [Ti] Title: Analysis of mitochondrial haplogroups associated with TTR Val30Ala familial amyloidotic polyneuropathy in Chinese patients. [So] Source: Int J Neurosci;122(12):716-8, 2012 Dec. [Is] ISSN: 1563-5279 [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: Extracellular deposition of abnormal transthyretin (TTR) amyloid fibrils leads to familial amyloidotic polyneuropathy (FAP), an inherited autsomal dominant disease. A large number of protein variants, each caused by a different point mutation in the TTR gene have been identified, including TTR Val30Ala. Since the age of onset, organ involvement, and disease progression are highly variable in FAP, even among individuals with the same TTR genetic variation. it is likely that other genetic and environmental factors influence FAP disease phenotype. One study has found a relationship between mitochondrial haplogroups and age of onset of FAP. In this study, we wondered whether certain mitochondrial haplogroups were associated with the cases of TTR Val30Ala FAP in a Chinese population. Mitochondrial haplogroup analysis was performed on a group of patients and their relatives and on a group of healthy controls. All FAP probands were unrelated in their maternal lineages. The chi-squared test for independence found no difference in mitochondrial haplogroup distribution between FAP and control groups. This is the first study reporting frequency and distribution of different haplogroups in FAP in a Chinese population. Although the study group was small, TTR Val30Ala FAP in China seems unrelated to mitochondrial haplogroup. [Mh] MeSH terms primary: Alanine/genetics Amyloid Neuropathies, Familial/genetics Genetic Predisposition to Disease/genetics Mitochondria/genetics Prealbumin/genetics Valine/genetics [Mh] MeSH terms secundary: Adult Age of Onset Aged Asian Continental Ancestry Group/genetics DNA, Mitochondrial/genetics Female Gene Frequency Humans Male Middle Aged Young Adult [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (DNA, Mitochondrial); 0 (Prealbumin); 56-41-7 (Alanine); 7004-03-7 (Valine) [Em] Entry month: 1305 [Js] Journal subset: IM [Da] Date of entry for processing: 121112 [St] Status: MEDLINE [do] DOI: 10.3109/00207454.2012.711400

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[PMID]: 22850485 [Au] Autor: Böttner M; Zorenkov D; Hellwig I; Barrenschee M; Harde J; Fricke T; Deuschl G; Egberts JH; Becker T; Fritscher-Ravens A; Arlt A; Wedel T [Ad] Address: Department of Anatomy, Christian Albrecht's University, and Department of Neurology, University Hospital Schleswig-Holstein, Otto-Hahn-Platz 8, 24118 Kiel, Germany. m.boettner@anat.uni-kiel.de [Ti] Title: Expression pattern and localization of alpha-synuclein in the human enteric nervous system. [So] Source: Neurobiol Dis;48(3):474-80, 2012 Dec. [Is] ISSN: 1095-953X [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: BACKGROUND: Alpha-synuclein (α-syn) is abundantly expressed in the central nervous system and involved in the regulation of neurotransmission. Insoluble fibrils of phosphorylated α-synuclein (p-α-syn) have been implicated in several neurodegenerative diseases (e.g. Parkinson's disease, Alzheimer's disease). The aim of the study was to determine the gene expression pattern and localization of α-syn/p-α-syn in the human enteric nervous system (ENS). METHODS: Human colonic specimens (n=13, 15-83 years) were processed for α-syn and p-α-syn immunohistochemistry. Colocalization of α-syn was assessed by dual-labeling with pan-neuronal markers (PGP 9.5, HuC/D). For qPCR studies, tissue was obtained from full-thickness sections, tunica muscularis, submucosa, mucosa, and laser-microdissected (LMD) enteric ganglia. RESULTS: Highest α-syn levels were detectable within the tunica muscularis and submucosa. Ganglia isolated by LMD showed high expression of α-syn mRNA. All myenteric and submucosal ganglia and nerve fibers were immunoreactive for α-syn. Dual-labeling revealed colocalization of α-syn with both pan-neuronal markers. p-α-syn immunoreactivity was consistently observed in specimens from adults with increasing age. CONCLUSIONS: α-syn is abundantly expressed in all nerve plexus of the human ENS including both neuronal somata and processes. The presence of p-α-syn within the ENS is a regular finding in adults with increasing age and may not be regarded as pathological correlate. The data provide a basis to unravel the functions of α-syn and to evaluate altered α-syn in enteric neuropathies and α-synucleinopathies of the CNS with gastrointestinal manifestations. [Mh] MeSH terms primary: Enteric Nervous System/metabolism alpha-Synuclein/analysis alpha-Synuclein/biosynthesis [Mh] MeSH terms secundary: Adolescent Adult Aged Aged, 80 and over Female Humans Immunohistochemistry Male Microdissection Middle Aged Neurons/metabolism Reverse Transcriptase Polymerase Chain Reaction Transcriptome Young Adult [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (alpha-Synuclein) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 120928 [St] Status: MEDLINE

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[PMID]: 22133743 [Au] Autor: Feng W; Sidorov E; Smith K; Selim M [Ad] Address: Department of Neurology, Division of Cerebrovascular Diseases, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA. [Ti] Title: Recurrent lobar intracerebral hemorrhage in Tangier disease. [So] Source: J Stroke Cerebrovasc Dis;21(8):909.e5-6, 2012 Nov. [Is] ISSN: 1532-8511 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: We report a patient with familial α-lipoprotein deficiency (Tangier disease) who presented with recurrent lobar intracerebral hemorrhages and accumulating microbleeds on T*2-weighted magnetic resonance imaging, suggestive of probable cerebral amyloid angiopathy. This case provides new insight into the links between the adenotriphosphate-binding cassette A1 (ABCA1) transporter gene mutation in Tangier disease and apolipoprotein-E expression in the brain and supports further investigation of the potential role of ABCA1 transporter in cerebral amyloid angiopathy. [Mh] MeSH terms primary: Cerebral Amyloid Angiopathy/etiology Cerebral Hemorrhage/etiology Tangier Disease/complications [Mh] MeSH terms secundary: ATP-Binding Cassette Transporters/genetics Apolipoproteins E/metabolism Cerebral Amyloid Angiopathy/diagnosis Cerebral Amyloid Angiopathy/metabolism Cerebral Angiography/methods Cerebral Hemorrhage/diagnosis Cerebral Hemorrhage/metabolism Diffusion Magnetic Resonance Imaging Female Humans Middle Aged Mutation Recurrence Tangier Disease/genetics Tangier Disease/metabolism Tomography, X-Ray Computed [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE [Nm] Name of substance: 0 (ATP binding cassette transporter 1); 0 (Apolipoproteins E) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 121105 [St] Status: MEDLINE

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[PMID]: 23239211 [Au] Autor: Shin SC; Robinson-Papp J [Ad] Address: Mount Sinai School of Medicine, New York, NY, USA. [Ti] Title: Amyloid neuropathies. [So] Source: Mt Sinai J Med;79(6):733-48, 2012 Nov-Dec. [Is] ISSN: 1931-7581 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: Peripheral neuropathy is a common complication of many of the systemic amyloidoses. Although the cause of neuropathy is not entirely clear, it is likely related to amyloid deposition within the nerve. This may lead to focal, multifocal, or diffuse neuropathies involving sensory, motor and/or autonomic fibers. The presenting symptoms depend on the distribution of nerves affected. One of the most common phenotypes is sensorimotor polyneuropathy, which is characterized by symptoms of neuropathic pain, numbness, and in advanced cases weakness. Symptoms begin in the feet and ultimately progress to the proximal legs and hands. The most common focal neuropathy is a median neuropathy at the wrist, clinically known as carpal tunnel syndrome. Carpal tunnel symptoms may include pain and sensory disturbances in the lateral palm and fingers; hand weakness may ensue if the focal neuropathy is severe. Autonomic neuropathy may affect a variety of organ systems such as the cardiovascular, gastrointestinal, and genitourinary systems. Symptoms may be non-specific making the diagnosis of autonomic neuropathy more difficult to identify. However, it is important to recognize and distinguish autonomic neuropathy from diseases of the end-organs themselves. This article reviews the inherited and acquired amyloidoses that affect the peripheral nervous system including familial amyloid polyneuropathy, and primary, secondary and senile amyloidosis. We emphasize the clinical presentation of the neurologic aspects of these diseases, physical examination findings, appropriate diagnostic evaluation, treatment and prognosis. [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL [Em] Entry month: 1212 [Js] Journal subset: IM [St] Status: In-Process [do] DOI: 10.1002/msj.21352

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[PMID]: 22918834 [Au] Autor: Azevedo EP; Guimarães-Costa AB; Torezani GS; Braga CA; Palhano FL; Kelly JW; Saraiva EM; Foguel D [Ad] Address: Instituto de Bioquímica Médica, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-590, Brazil. [Ti] Title: Amyloid fibrils trigger the release of neutrophil extracellular traps (NETs), causing fibril fragmentation by NET-associated elastase. [So] Source: J Biol Chem;287(44):37206-18, 2012 Oct 26. [Is] ISSN: 1083-351X [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: The accumulation of amyloid fibrils is a feature of amyloid diseases, where cell toxicity is due to soluble oligomeric species that precede fibril formation or are formed by fibril fragmentation, but the mechanism(s) of fragmentation is still unclear. Neutrophil-derived elastase and histones were found in amyloid deposits from patients with different systemic amyloidoses. Neutrophil extracellular traps (NETs) are key players in a death mechanism in which neutrophils release DNA traps decorated with proteins such as elastase and histones to entangle pathogens. Here, we asked whether NETs are triggered by amyloid fibrils, reasoning that because proteases are present in NETs, protease digestion of amyloid may generate soluble, cytotoxic species. We show that amyloid fibrils from three different sources (α-synuclein, Sup35, and transthyretin) induced NADPH oxidase-dependent NETs in vitro from human neutrophils. Surprisingly, NET-associated elastase digested amyloid fibrils into short species that were cytotoxic for BHK-21 and HepG2 cells. In tissue sections from patients with primary amyloidosis, we also observed the co-localization of NETs with amyloid deposits as well as with oligomers, which are probably derived from elastase-induced fibril degradation (amyloidolysis). These data reveal that release of NETs, so far described to be elicited by pathogens, can also be triggered by amyloid fibrils. Moreover, the involvement of NETs in amyloidoses might be crucial for the production of toxic species derived from fibril fragmentation. [Mh] MeSH terms primary: Amyloid/physiology Chromatin/metabolism Neutrophils/pathology [Mh] MeSH terms secundary: Acetophenones/pharmacology Amyloid/chemistry Amyloid/genetics Amyloid Neuropathies, Familial/enzymology Amyloid Neuropathies, Familial/genetics Amyloid Neuropathies, Familial/pathology Amyloidosis/enzymology Amyloidosis/metabolism Amyloidosis/pathology Animals Biological Markers/metabolism Cell Nucleus/metabolism Cell Survival/drug effects Chromatin/enzymology Cricetinae Extracellular Space/enzymology Extracellular Space/metabolism Hep G2 Cells Humans Lung/enzymology Lung/metabolism Lung/pathology Mutation, Missense NADPH Oxidase/antagonists & inhibitors NADPH Oxidase/metabolism Neutrophils/enzymology Neutrophils/metabolism Onium Compounds/pharmacology Pancreatic Elastase Peptide Fragments/metabolism Peptide Fragments/pharmacology Peptide Fragments/physiology Prealbumin/chemistry Prealbumin/genetics Prealbumin/physiology Protein Structure, Quaternary Proteolysis Reactive Oxygen Species/metabolism Skin/enzymology Skin/metabolism Skin/pathology alpha-Synuclein/chemistry alpha-Synuclein/genetics alpha-Synuclein/physiology [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (Acetophenones); 0 (Amyloid); 0 (Biological Markers); 0 (Chromatin); 0 (Onium Compounds); 0 (Peptide Fragments); 0 (Prealbumin); 0 (Reactive Oxygen Species); 0 (alpha-Synuclein); 244-54-2 (diphenyleneiodonium); B6J7B9UDTR (acetovanillone); EC 1.6.3.1 (NADPH Oxidase); EC 3.4.21.36 (Pancreatic Elastase) [Em] Entry month: 1301 [Cu] Class update date: 130416 [Lr] Last revision date: 130416 [Js] Journal subset: IM [Da] Date of entry for processing: 121029 [St] Status: MEDLINE [do] DOI: 10.1074/jbc.M112.369942

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[PMID]: 23055319 [Au] Autor: Loavenbruck AJ; Chaudhry V; Zeldenrust SR; Spinner RJ; Theis JD; Klein CJ [Ad] Address: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA. [Ti] Title: Mass spectrometry analysis reveals non-mutated apolipoprotein A1 lumbosacral radiculoplexus amyloidoma. [So] Source: Muscle Nerve;46(5):817-22, 2012 Nov. [Is] ISSN: 1097-4598 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: INTRODUCTION: In rare instances, amyloidosis presents as a focal, macroscopic lesion involving peripheral neural tissues (amyloidoma). In all known reported cases, peripheral nerve amyloidomas have had immunoglobulin light-chain fibril composition and occurred in the context of paraproteinemia. METHODS: A 46-year-old man presented with progressive insidious-onset right lumbosacral radiculoplexus neuropathy without paraproteinemia. MRI-targeted fascicular nerve biopsy was performed on an enlarged sciatic nerve after earlier distal fibular nerve biopsy was nondiagnostic. Laser dissected mass spectroscopy of the discovered amyloid protein was performed after immunohistochemistry failed to identify the specific amyloid protein. Complete gene sequencing of apolipoprotein A1 (ApoA1) was performed. RESULTS: Only wild-type ApoA1 amyloid was found in the congophilic component in the nerve. CONCLUSIONS: This case highlights the utility of MRI-guided fascicular nerve biopsy combined with laser-dissected mass spectrometric analysis. Importantly, the case expands the known causes of amyloidomas to include wild-type ApoA1. [Mh] MeSH terms primary: Amyloidosis/diagnosis Apolipoprotein A-I/genetics Lumbosacral Plexus/pathology Mass Spectrometry [Mh] MeSH terms secundary: Amino Acid Sequence Amyloidosis/genetics Amyloidosis/pathology Humans Male Middle Aged Molecular Sequence Data Peripheral Nervous System Diseases/diagnosis Peripheral Nervous System Diseases/genetics Peripheral Nervous System Diseases/pathology [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (Apolipoprotein A-I) [Em] Entry month: 1212 [Cu] Class update date: 130416 [Lr] Last revision date: 130416 [Js] Journal subset: IM [Da] Date of entry for processing: 121011 [St] Status: MEDLINE [do] DOI: 10.1002/mus.23415

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[PMID]: 23436870 [Au] Autor: Minutoli F; Di Bella G; Mazzeo A; Donato R; Russo M; Scribano E; Baldari S [Ad] Address: Department of Radiological Sciences, University of Messina, Consolare Valeria 1, Messina 98100, Italy. fminutoli@unime.it [Ti] Title: Comparison between (99m)Tc-diphosphonate imaging and MRI with late gadolinium enhancement in evaluating cardiac involvement in patients with transthyretin familial amyloid polyneuropathy. [So] Source: AJR Am J Roentgenol;200(3):W256-65, 2013 Mar. [Is] ISSN: 1546-3141 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: OBJECTIVE: Cardiac involvement is not rare in systemic amyloidosis and is associated with poor prognosis. Both (99m)Tc-diphosphonate imaging and cardiac MRI with late gadolinium enhancement are considered valuable tools in revealing amyloid deposition in the myocardium; however, to our knowledge, no comparative study between the two techniques exists. We compared findings of these two techniques in patients with transthyretin-familial amyloid polyneuropathy (FAP). SUBJECTS AND METHODS: Eighteen patients with transthyretin-FAP underwent (99m)Tc-diphosphonate imaging and MRI with late gadolinium enhancement. Images were visually evaluated by independent readers to determine the presence of radiotracer accumulation or late gadolinium enhancement-positive areas at the level of cardiac chambers. RESULTS: Interobserver agreement ranged from moderate to very good for (99m)Tc-diphosphonate imaging findings and was very good for findings of MRI with late gadolinium enhancement. Left ventricle (LV) radiotracer uptake was found in 10 of 18 patients, whereas LV late gadolinium enhancement-positive areas were found in eight of 18 patients (χ(2) = 0.9; p = 0.343). One hundred fifty-nine LV segments showed (99m)Tc-diphosphonate accumulation, and 57 LV segments were late gadolinium enhancement positive (p < 0.0001). Radiotracer uptake was found in the right ventricle (RV) in eight patients and in both atria in five patients, whereas MRI showed that RV was involved in three patients and both atria in six patients; the differences were not statistically significant (RV, p = 0.07; atria, p = 1). Intermodality agreement between (99m)Tc-diphosphonate imaging and MRI ranged from fair to good. CONCLUSION: Our study shows that, although (99m)Tc-diphosphonate imaging and MRI with late gadolinium enhancement have similar capabilities to identify patients with myocardial amyloid deposition, cardiac amyloid infiltration burden can be significantly underestimated by visual analysis of MRI with late gadolinium enhancement compared with (99m)Tc-diphosphonate imaging. [Mh] MeSH terms primary: Amyloid Neuropathies, Familial/complications Cardiomyopathies/diagnosis Diphosphonates/diagnostic use Magnetic Resonance Imaging, Cine/methods Organometallic Compounds/diagnostic use Technetium Compounds/diagnostic use Tomography, Emission-Computed, Single-Photon/methods [Mh] MeSH terms secundary: Adult Aged Amyloid Neuropathies, Familial/diagnosis Cardiomyopathies/etiology Female Humans Male Middle Aged Observer Variation Radiopharmaceuticals/diagnostic use Reproducibility of Results Sensitivity and Specificity [Pt] Publication type: COMPARATIVE STUDY; JOURNAL ARTICLE [Nm] Name of substance: 0 (Diphosphonates); 0 (Organometallic Compounds); 0 (Radiopharmaceuticals); 0 (Technetium Compounds); 138071-82-6 (gadobutrol); 8V3FGC4J77 (technetium Tc 99m diphosphonate) [Em] Entry month: 1304 [Js] Journal subset: AIM; IM [Da] Date of entry for processing: 130225 [St] Status: MEDLINE [do] DOI: 10.2214/AJR.12.8737

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[PMID]: 22973891 [Au] Autor: Levy J; Hawkins PN; Rowczenio D; Godfrey T; Stawell R; Zamir E [Ad] Address: The Ocular Immunology Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia. [Ti] Title: Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly. [So] Source: Amyloid;19(4):201-3, 2012 Dec. [Is] ISSN: 1744-2818 [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: We report a 57-year-old man with pathognomonic bilateral vitreo-lenticular amyloid opacities (pseudopodia lentis) in whom a novel transthyretin (TTR) mutation was identified. The patient presented due to bilateral floaters. The vitreous cavities of both eyes showed course, fibrilar opacities attached to the posterior lens surface with pseudopodia. There was a history of bilateral carpal tunnel syndrome. Nerve conduction studies showed upper and lower limb axonal polyneuropathy. Magnetic resonance imaging of the brain and spinal cord, renal and cardiac function were normal. Vitreous and conjunctival biopsies confirmed the diagnosis of TTR-related amyloidosis. Genetic analysis of exon 2 of the TTR gene revealed that the patient was heterozygous for a single nucleotide substitution c.160 A>G, resulting in replacement of arginine with glycine at position 34 of the mature protein (Arg34Gly). Five years later the patient developed increasing sensory and motor neuropathy of both lower limbs, and neovascular glaucoma in one eye. We hypothesize that the reason for his neovascular glaucoma was retinal ischaemia secondary to amyloid retinal vasculopathy. [Mh] MeSH terms primary: Amyloid Neuropathies, Familial/genetics Glaucoma/genetics Polymorphism, Single Nucleotide Prealbumin/genetics Retinal Vasculitis/genetics [Mh] MeSH terms secundary: Amyloid Neuropathies, Familial/complications Amyloid Neuropathies, Familial/pathology Exons Glaucoma/complications Glaucoma/pathology Humans Male Middle Aged Retinal Vasculitis/complications Retinal Vasculitis/pathology Vitreous Body/metabolism Vitreous Body/pathology [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (Prealbumin) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 121106 [St] Status: MEDLINE [do] DOI: 10.3109/13506129.2012.724035

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[PMID]: 22913327 [Au] Autor: Noordzij W; Glaudemans AW; Slart RH; Dierckx RA; Hazenberg BP [Ti] Title: Clinical use of differential nuclear medicine modalities in patients with ATTR amyloidosis. [So] Source: Amyloid;19(4):208-11, 2012 Dec. [Is] ISSN: 1744-2818 [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: Histological proof remains the gold standard for the diagnosis of amyloidosis. Nuclear medicine imaging techniques are able to determine the amyloid load in the body. Currently, the best imaging modality is (123)I-SAP scintigraphy. This modality has high sensitivity for detecting amyloid deposits in all amyloid subtypes. Involvement of liver and spleen can be visualized before clinical signs are present. The addition of single photon emission computed tomography improves the differentiation of overlying organs. However, (123)I-SAP is not FDA approved. Its availability is limited to two centres in Europe. Furthermore, it is not suitable for imaging cardiac involvement of amyloidosis, due to movement, blood-pool content and lack of fenestrated endothelial in the myocardium. Phosphate derivates labelled with (99m)Tc, are able to detect calcium compounds in cardiac amyloidosis. Finally, (123)I-MIBG, an analogue of norepinephrine, can detect cardiac sympathetic innervation abnormalities as a consequence of amyloid deposits. Both these last techniques seem to be able to detect cardiac involvement before echocardiographic parameters are present. We illustrate the clinical use of these modalities with two patients with ATTR type amyloidosis. [Mh] MeSH terms primary: Amyloid Neuropathies, Familial/diagnosis Nuclear Medicine/methods [Mh] MeSH terms secundary: Aged Amyloid/metabolism Amyloid Neuropathies, Familial/pathology Amyloid Neuropathies, Familial/radiography Amyloid Neuropathies, Familial/radionuclide imaging Female Heart/radiography Heart/radionuclide imaging Humans Iodine Radioisotopes Male Radiopharmaceuticals Technetium Tomography, Emission-Computed, Single-Photon [Pt] Publication type: CASE REPORTS; LETTER [Nm] Name of substance: 0 (Amyloid); 0 (Iodine Radioisotopes); 0 (Radiopharmaceuticals); 7440-26-8 (Technetium) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 121106 [St] Status: MEDLINE [do] DOI: 10.3109/13506129.2012.717993

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[PMID]: 22914816 [Au] Autor: Ferreira AC; Carvalho F; Nolasco F [Ad] Address: Department of Nephrology, Centro Hospitalar de Lisboa Central, Hospital de Curry Cabral, Lisbon, Portugal. karinadacostafer@hotmail.com [Ti] Title: Familial amyloidotic polineuropathy and systemic lupus. [So] Source: Lupus;21(13):1455-8, 2012 Nov. [Is] ISSN: 1477-0962 [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: Familial amyloidotic polineuropathy is a genetic disorder, leading to systemic amyloid deposits, manifested as sensory-motor and autonomic neuropathy. In the Portuguese classical form, the disease is evident at a young age, and causes death if no specific treatment is received. Variability in penetrance, age of onset and clinical course has been published; environmental and genetic factors are believed to contribute to this variability. The authors report a case of a 51-year-old white female, with a medical history of acquired angioedema, late-onset familial amyloidotic polineuropathy and systemic lupus erythemathosus. The authors consider that these associated diseases could modulate their expression. [Mh] MeSH terms primary: Amyloid Neuropathies, Familial/complications Lupus Erythematosus, Systemic/complications [Mh] MeSH terms secundary: Amyloid Neuropathies, Familial/diagnosis Amyloid Neuropathies, Familial/genetics Amyloid Neuropathies, Familial/immunology Angioedema/etiology Biopsy DNA Mutational Analysis Female Genetic Predisposition to Disease Humans Kidney/pathology Lupus Erythematosus, Systemic/diagnosis Lupus Erythematosus, Systemic/immunology Lupus Nephritis/etiology Middle Aged Phenotype Prealbumin/genetics Prognosis Renal Insufficiency, Chronic/etiology Skin/pathology [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE [Nm] Name of substance: 0 (Prealbumin) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 121024 [St] Status: MEDLINE [do] DOI: 10.1177/0961203312458470

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