Base de dados : MEDLINE
Pesquisa : C10.574.500.050 [Categoria DeCS]
Referências encontradas : 848 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 85 ir para página                         

  1 / 848 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29429161
[Au] Autor:Li L; Duan XJ; Sun Y; Lu Y; Xu HY; Wang QZ; Wang HY
[Ad] Endereço:Department of Pathology, Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China.
[Ti] Título:[Classification of cardiac amyloidosis: an immunohistochemical analysis].
[So] Source:Zhonghua Bing Li Xue Za Zhi;47(2):105-109, 2018 Feb 08.
[Is] ISSN:0529-5807
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To evaluate the sensitivity and specificity of immunohistochemistry (IHC) in the classification of cardiac amyloidosis on endomyocardial biopsy (EMB) and heart allograft. Twenty cardiac tissues from 19 patients at Fuwai Hospital from January, 1990 to April, 2017 with histopathologic features of amyloidosis and Congo red staining positivity were included. IHC was performed with monoclonal antibodies against AA amyloid and polyclonal antibodies against transthyretin (ATTR), λ-light chain (AL-λ), κ-light chain (AL-κ), ApoAâ… , ApoAâ…¡, ApoA â…£ and ß(2)-microglobin. The extent of interstitial staining was evaluated by light microscopy, and three patterns were recognized; these included diffuse pericellular pattern, discrete pericellular pattern, and nodular pattern. Two patterns of vascular deposition were also noted, including arterial pattern and venous pattern. Endocardial involvement was also assessed and recorded. Nineteen cases were divided into three groups according to the pattern of proteins expression in specimens. The first group (5 cases) only showed single protein expression on EMB. The second group (6 cases) showed more than one protein expression, but one of them was intensely stained or any staining of any protein together with ApoA â…£ co-staining. The third group (8 cases) also showed more than one protein expression and all of them had intense staining. Amyloid deposits were successfully subtyped as AL-λ, ATTR, AL-κ and ApoAâ… by IHC in the former two groups with the sensitivity of 11/19. In the third group, amyloid deposits could not be subtyped by immunohistochemistry due to their poor specificity. The pericellular pattern tended to favor AL over ATTR amyloidosis and vascular deposition tended to favor ATTR. Amyloid deposits can be reliably subtyped in diagnostic cardiac specimens using IHC. The co-deposition of chaperon proteins, the distribution of amyloid proteins and clinical features are also auxiliary to subtype cardiac amyloidosis.
[Mh] Termos MeSH primário: Amiloidose/patologia
Cardiomiopatias/patologia
[Mh] Termos MeSH secundário: Amiloide/análise
Neuropatias Amiloides Familiares/patologia
Anticorpos Monoclonais/análise
Apolipoproteína A-I/análise
Apolipoproteínas A/análise
Biópsia
Seres Humanos
Cadeias kappa de Imunoglobulina/análise
Cadeias lambda de Imunoglobulina/análise
Imuno-Histoquímica
Placa Amiloide/patologia
Sensibilidade e Especificidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOA1 protein, human); 0 (Amyloid); 0 (Antibodies, Monoclonal); 0 (Apolipoprotein A-I); 0 (Apolipoproteins A); 0 (Immunoglobulin kappa-Chains); 0 (Immunoglobulin lambda-Chains); 0 (apolipoprotein A-IV)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180213
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-5807.2018.02.005


  2 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29202938
[Au] Autor:Geller HI; Singh A; Mirto TM; Padera R; Mitchell R; Laubach JP; Falk RH
[Ad] Endereço:Cardiac Amyloidosis Program, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
[Ti] Título:Prevalence of Monoclonal Gammopathy in Wild-Type Transthyretin Amyloidosis.
[So] Source:Mayo Clin Proc;92(12):1800-1805, 2017 Dec.
[Is] ISSN:1942-5546
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the prevalence of monoclonal gammopathy (MG) in patients with wild-type transthyretin amyloidosis (ATTRwt) (formerly known as senile amyloidosis). PATIENTS AND METHODS: We retrospectively analyzed the serum protein electrophoresis and serum immunofixation results, free light chain (FLC) levels, and renal function of 113 consecutive patients with ATTRwt seen at the Brigham and Women's Hospital's Cardiac Amyloidosis Program between February 21, 2006, and November 9, 2016. Monoclonal gammopathy was defined as a monoclonal protein present in the serum. Light chain MG was defined as an abnormal serum FLC κ/λ ratio with an elevated FLC level in the absence of a monoclonal protein. In patients with renal dysfunction, the renal FLC reference range was used. RESULTS: The mean age of the population was 75 years, 3 of the 113 patients (3%) were female, and 110 (97%) were white. Monoclonal gammopathy was present in 26 patients (23%), 24 of whom had monoclonal protein present and 2 others who met criteria for light chain MG. Most clones (12 of 20 [60%]) were λ restricted. Another 7 patients had an abnormal FLC κ/λ ratio in the setting of renal dysfunction. CONCLUSION: In this study, MG was present in 23% of patients with ATTRwt. The finding of MG or an abnormal FLC κ/λ ratio in an elderly man may cause diagnostic confusion during subtyping of amyloidosis. A high degree of clinical suspicion for ATTRwt and precise tissue typing using mass spectrometry may overcome such diagnostic challenges.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/imunologia
Gamopatia Monoclonal de Significância Indeterminada/diagnóstico
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Cadeias kappa de Imunoglobulina/sangue
Cadeias lambda de Imunoglobulina/sangue
Masculino
Meia-Idade
Prevalência
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunoglobulin kappa-Chains); 0 (Immunoglobulin lambda-Chains)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171212
[Lr] Data última revisão:
171212
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE


  3 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28911993
[Au] Autor:Reynolds MM; Veverka KK; Gertz MA; Dispenzieri A; Zeldenrust SR; Leung N; Pulido JS
[Ad] Endereço:Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
[Ti] Título:Ocular Manifestations of Familial Transthyretin Amyloidosis.
[So] Source:Am J Ophthalmol;183:156-162, 2017 Nov.
[Is] ISSN:1879-1891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Among patients with familial amyloidosis, mutation in the transthyretin (TTR) protein is the most common type. Patients with TTR amyloidosis have been noted to have ocular, especially vitreous, involvement. In this report, an analysis of the types and frequency of ocular manifestations in TTR amyloidosis is presented. DESIGN: Observational case series. METHODS: Two hundred and sixty-three patients who presented to Mayo Clinic with TTR amyloidosis between January 1, 1970, and November 1, 2014, consented to be included in the Mayo Clinic amyloidosis database maintained by the Department of Hematology. Fifty-four patients had ocular examinations at a mean of 4.25 ± 3.93 months after systemic symptoms. RESULTS: Of 108 examined eyes in 54 patients with TTR amyloidosis, there were 26 eyes (24%) in 13 patients with ocular involvement. Patients with ocular involvement were more likely to be women than those without ocular involvement (46% vs 15%, respectively, P = .008) and have significantly worse visual acuity (VA) at presentation (logMAR 0.24 [Snellen equivalent 20/30] vs logMAR 0.00 [Snellen equivalent 20/20], P = .017). The ophthalmic findings included vitreous amyloid (26/26, 100%), neurotrophic keratitis (2/26, 8%), glaucoma (5/26, 19%), and tortuous retinal vessels (4/26, 15%). The glaucoma was classified as open-angle (2/26), exfoliative (2/26), and neovascular following central retinal vein occlusion from amyloidosis (1/26). Ten patients underwent vitrectomy for visually significant vitreous amyloidosis, which significantly improved VA from a baseline of logMAR 0.70 (Snellen equivalent 20/100) to logMAR 0.05 (Snellen equivalent ∼20/20), P = .003. Three TTR mutations, Glu89Lys, Gly47Arg, and homozygous Gly6Ser, not previously described, were associated with vitreous amyloid. CONCLUSION: In this large cohort of patients with TTR amyloidosis, female sex and decreased VA were associated with ocular amyloid. Three mutations that have not been previously reported to have vitreous involvement were described: Glu89Lys, Gly47Arg, and homozygous Gly6Ser.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/complicações
Oftalmopatias/etiologia
Previsões
Retina/patologia
Corpo Vítreo/patologia
[Mh] Termos MeSH secundário: Idoso
Neuropatias Amiloides Familiares/genética
Oftalmopatias/diagnóstico
Feminino
Angiofluoresceinografia
Seguimentos
Fundo de Olho
Seres Humanos
Masculino
Meia-Idade
Linhagem
Estudos Retrospectivos
Tomografia de Coerência Óptica
Acuidade Visual
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170916
[St] Status:MEDLINE


  4 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28898370
[Au] Autor:Geller HI; Singh A; Alexander KM; Mirto TM; Falk RH
[Ad] Endereço:Cardiac Amyloidosis Program, Brigham and Women's Hospital, Boston, Massachusetts.
[Ti] Título:Association Between Ruptured Distal Biceps Tendon and Wild-Type Transthyretin Cardiac Amyloidosis.
[So] Source:JAMA;318(10):962-963, 2017 09 12.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/complicações
Traumatismos dos Tendões/etiologia
[Mh] Termos MeSH secundário: Idoso
Braço
Feminino
Seres Humanos
Masculino
Meia-Idade
Ruptura Espontânea
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170913
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.9236


  5 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28728692
[Au] Autor:Martinez-Naharro A; Treibel TA; Abdel-Gadir A; Bulluck H; Zumbo G; Knight DS; Kotecha T; Francis R; Hutt DF; Rezk T; Rosmini S; Quarta CC; Whelan CJ; Kellman P; Gillmore JD; Moon JC; Hawkins PN; Fontana M
[Ad] Endereço:National Amyloidosis Centre, University College London, Royal Free Hospital, London, United Kingdom; Division of Medicine, University College London, London, United Kingdom.
[Ti] Título:Magnetic Resonance in Transthyretin Cardiac Amyloidosis.
[So] Source:J Am Coll Cardiol;70(4):466-477, 2017 Jul 25.
[Is] ISSN:1558-3597
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cardiac transthyretin amyloidosis (ATTR) is an increasingly recognized cause of heart failure. Cardiac magnetic resonance (CMR), with late gadolinium enhancement (LGE) and T1 mapping, is emerging as a reference standard for diagnosis and characterization of cardiac amyloidosis. OBJECTIVES: The authors used CMR with extracellular volume fraction (ECV) measurement to characterize cardiac involvement in relation to outcome in ATTR. METHODS: Subjects comprised 263 patients with cardiac ATTR corroborated by grade 2 to 3 Tc-DPD ( Tc-3,3-diphosphono-1,2-propanodicarboxylic acid) cardiac uptake, 17 with suspected cardiac ATTR (grade 1 Tc-DPD), and 12 asymptomatic individuals with amyloidogenic transthyretin (TTR) mutations. Fifty patients with cardiac light-chain (AL) amyloidosis acted as disease comparators. RESULTS: Unlike cardiac AL amyloidosis, asymmetrical septal left ventricular hypertrophy (LVH) was present in 79% of patients with ATTR (70% sigmoid septum and 30% reverse septal contour), whereas symmetrical LVH was present in 18%, and 3% had no LVH. In patients with cardiac amyloidosis, the pattern of LGE was always typical for amyloidosis (29% subendocardial, 71% transmural), including right ventricular LGE (96%). During follow-up (19 ± 14 months), 65 patients died. ECV independently correlated with mortality and remained independent after adjustment for age, N-terminal pro-B-type natriuretic peptide, ejection fraction, E/E', and left ventricular mass (hazard ratio: 1.164; 95% confidence interval: 1.066 to 1.271; p < 0.01). CONCLUSIONS: Asymmetrical hypertrophy, traditionally associated with hypertrophic cardiomyopathy, was the commonest pattern of ventricular remodeling in ATTR. LGE imaging was typical in all patients with cardiac ATTR. ECV correlated with amyloid burden and was an independent prognostic factor for survival in this cohort of patients.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/diagnóstico
Cardiomiopatias/diagnóstico
Imagem Cinética por Ressonância Magnética/métodos
Miocárdio/patologia
[Mh] Termos MeSH secundário: Idoso
Diagnóstico Diferencial
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Prognóstico
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170722
[St] Status:MEDLINE


  6 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28679600
[Au] Autor:Kollmer J; Sahm F; Hegenbart U; Purrucker JC; Kimmich C; Schönland SO; Hund E; Heiland S; Hayes JM; Kristen AV; Röcken C; Pham M; Bendszus M; Weiler M
[Ad] Endereço:From the Department of Neuroradiology (J.K., S.H., M.P., M.B.), Amyloidosis Center Heidelberg (J.K., U.H., J.C.P., C.K., S.O.S., E.H., A.V.K., M.W.), Department of Neuropathology (F.S.), Medical Department V (U.H., C.K., S.O.S.), Department of Neurology (J.C.P., E.H., M.W.), Division of Experimental
[Ti] Título:Sural nerve injury in familial amyloid polyneuropathy: MR neurography vs clinicopathologic tools.
[So] Source:Neurology;89(5):475-484, 2017 Aug 01.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To detect and quantify lesions of the small-caliber sural nerve (SN) in symptomatic and asymptomatic transthyretin familial amyloid polyneuropathy (TTR-FAP) by high-resolution magnetic resonance neurography (MRN) in correlation with electrophysiologic and histopathologic findings. METHODS: Twenty-five patients with TTR-FAP, 10 asymptomatic carriers of the mutated transthyretin gene (mut ), and 35 age- and sex-matched healthy controls were prospectively included in this cross-sectional case-control study. All participants underwent 3T MRN with high-structural resolution (fat-saturated, T2-weighted, and double-echo sequences). Total imaging time was ≈45 minutes per patient. Manual SN segmentation was performed from its origin at the sciatic nerve bifurcation to the lower leg with subsequent evaluation of quantitative microstructural and morphometric parameters. Additional time needed for postprocessing was ≈1.5 hours per participant. Detailed neurologic and electrophysiologic examinations were conducted in the TTR group. RESULTS: T2 signal and proton spin density (ρ) reliably differentiated between TTR-FAP (198.0 ± 13.3, 429.6 ± 15.25), mut carriers (137.0 ± 16.9, = 0.0009; 354.7 ± 21.64, = 0.0029), and healthy controls (90.0 ± 3.4, 258.2 ± 9.10; < 0.0001). Marked differences between mut carriers and controls were found for T2 signal ( = 0.0065) and ρ ( < 0.0001). T2 relaxation time was higher in patients with TTR-FAP only ( = 0.015 vs mut carriers, = 0.0432 vs controls). SN caliber was higher in patients with TTR-FAP vs controls and in mut carriers vs controls ( < 0.0001). Amyloid deposits were histopathologically detectable in 10 of 14 SN specimens. CONCLUSIONS: SN injury in TTR-FAP is detectable and quantifiable in vivo by MRN even in asymptomatic mut carriers. Differences in SN T2 signal between controls and asymptomatic mut carriers are derived mainly from an increase of ρ, which overcomes typical limitations of established diagnostic methods as a highly sensitive imaging biomarker for early detection of peripheral nerve lesions. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that MRN accurately identifies asymptomatic mut carriers.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/diagnóstico por imagem
Imagem por Ressonância Magnética
Nervo Sural/diagnóstico por imagem
Nervo Sural/lesões
[Mh] Termos MeSH secundário: Adulto
Idoso
Neuropatias Amiloides Familiares/genética
Neuropatias Amiloides Familiares/patologia
Estudos de Casos e Controles
Estudos Transversais
Avaliação da Deficiência
Diagnóstico Precoce
Feminino
Heterozigoto
Seres Humanos
Processamento de Imagem Assistida por Computador
Masculino
Meia-Idade
Condução Nervosa
Pré-Albumina/genética
Sintomas Prodrômicos
Estudos Prospectivos
Nervo Sural/patologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Prealbumin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004178


  7 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28625364
[Au] Autor:Connelly S; Mortenson DE; Choi S; Wilson IA; Powers ET; Kelly JW; Johnson SM
[Ad] Endereço:Department of Integrative Structural and Computational Biology, The Scripps Research Institute, 10550 N. Torrey Pines Rd., La Jolla, CA 92037, United States.
[Ti] Título:Semi-quantitative models for identifying potent and selective transthyretin amyloidogenesis inhibitors.
[So] Source:Bioorg Med Chem Lett;27(15):3441-3449, 2017 08 01.
[Is] ISSN:1464-3405
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis. Herein, we use previously reported structure-activity relationship data to develop two semi-quantitative algorithms for identifying the structures of potent and selective transthyretin kinetic stabilizers/amyloidogenesis inhibitors. The viability of these prediction algorithms, in particular the more robust in silico docking model, is perhaps best validated by the clinical success of tafamidis, the first-in-class drug approved in Europe, Japan, South America, and elsewhere for treating transthyretin aggregation-associated familial amyloid polyneuropathy. Tafamidis is also being evaluated in a fully-enrolled placebo-controlled clinical trial for its efficacy against TTR cardiomyopathy. These prediction algorithms will be useful for identifying second generation TTR kinetic stabilizers, should these be needed to ameliorate the central nervous system or ophthalmologic pathology caused by TTR aggregation in organs not accessed by oral tafamidis administration.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/tratamento farmacológico
Desenho de Drogas
Pré-Albumina/metabolismo
Estabilidade Proteica/efeitos dos fármacos
Bibliotecas de Moléculas Pequenas/química
Bibliotecas de Moléculas Pequenas/farmacologia
[Mh] Termos MeSH secundário: Neuropatias Amiloides Familiares/metabolismo
Simulação por Computador
Seres Humanos
Simulação de Acoplamento Molecular
Pré-Albumina/química
Multimerização Proteica/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Prealbumin); 0 (Small Molecule Libraries)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171125
[Lr] Data última revisão:
171125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE


  8 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo SciELO Saúde Pública
[PMID]:28614454
[Au] Autor:Oliveira CR; Mendes Á; Sousa L
[Ad] Endereço:Associação dos Lares Ferroviários, Entroncamento, Portugal.
[Ti] Título:[Health promotion in families with paramyloidosis: the role of elders with younger family members].
[Ti] Título:Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos..
[So] Source:Cad Saude Publica;33(5):e00185515, 2017 Jun 12.
[Is] ISSN:1678-4464
[Cp] País de publicação:Brazil
[La] Idioma:por
[Ab] Resumo:Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/psicologia
Família/psicologia
Promoção da Saúde
Apoio Social
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Brasil
Feminino
Seres Humanos
Masculino
Meia-Idade
Pesquisa Qualitativa
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE


  9 / 848 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28611125
[Au] Autor:Maurer MS; Elliott P; Merlini G; Shah SJ; Cruz MW; Flynn A; Gundapaneni B; Hahn C; Riley S; Schwartz J; Sultan MB; Rapezzi C; ATTR-ACT Study Investigators
[Ad] Endereço:From the Center for Advanced Cardiac Care, Columbia University College of Physicians and Surgeons, NY (M.S.M); Cardiovascular Medicine, University College London, United Kingdom (P.E.); IRCCS Policlinico San Matteo, University of Pavia, Italy (G.M.); Division of Cardiology, Northwestern University,
[Ti] Título:Design and Rationale of the Phase 3 ATTR-ACT Clinical Trial (Tafamidis in Transthyretin Cardiomyopathy Clinical Trial).
[So] Source:Circ Heart Fail;10(6), 2017 Jun.
[Is] ISSN:1941-3297
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Transthyretin amyloidosis is a rare, life-threatening disease resulting from aggregation and deposition of transthyretin amyloid fibrils in various tissues. There are 2 predominate phenotypic presentations of the disease: transthyretin familial amyloid polyneuropathy, which primarily affects the peripheral nerves, and transthyretin cardiomyopathy (TTR-CM), which primarily affects the heart. However, there is a wide overlap with symptoms at presentation and disease course being highly variable and influenced by the underlying transthyretin mutation, age of the affected individual, sex, and geographic location. Treatment of transthyretin amyloidosis is typically focused on symptom management. Although tafamidis has been shown to delay neurologic progression of transthyretin familial amyloid polyneuropathy, there are no approved pharmacologic therapies shown to improve survival in TTR-CM. The natural history of TTR-CM is poorly characterized, which presents difficulties for the design of large-scale trials for new treatments. This review provides a brief overview of TTR-CM and the challenges of identifying clinically meaningful end points and study parameters to determine the efficacy of treatments for rare diseases. The design and rationale behind the ongoing phase 3 ATTR-ACT study (Tafamidis in Transthyretin Cardiomyopathy Clinical Trial), an international, multicenter, double-blind, placebo-controlled, randomized clinical trial, is also outlined. The ATTR-ACT study will provide important insight into the efficacy and safety of tafamidis for the treatment of TTR-CM. CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT01994889.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/tratamento farmacológico
Benzoxazóis/uso terapêutico
Cardiomiopatias/tratamento farmacológico
Ensaios Clínicos Fase III como Assunto/métodos
Gerenciamento Clínico
Ensaios Clínicos Controlados Aleatórios como Assunto/métodos
[Mh] Termos MeSH secundário: Administração Oral
Progressão da Doença
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Benzoxazoles); 8FG9H9D31J (tafamidis)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170809
[Lr] Data última revisão:
170809
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE


  10 / 848 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28598015
[Au] Autor:Ebenezer GJ; Liu Y; Judge DP; Cunningham K; Truelove S; Carter ND; Sebastian B; Byrnes K; Polydefkis M
[Ad] Endereço:Department of Neurology, Johns Hopkins University.
[Ti] Título:Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy.
[So] Source:Ann Neurol;82(1):44-56, 2017 Jul.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the utility of skin biopsies as a biomarker of disease severity in subjects with amyloid neuropathy. METHODS: Five groups of patients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) TTR mutation carriers without peripheral neuropathy (TTR-noPN; n = 10), (3) healthy controls (n = 20), (4) diabetic neuropathy disease controls (n = 20), and (5) patients with light-chain (AL) amyloid (n = 2). All subjects underwent neurological examination and 3mm skin biopsies. Sections were stained with anti-PGP9.5, anti-TTR, and Congo red. Intraepidermal (IENFD), sweat gland (SGNFD), and pilomotor nerve fiber densities (PMNFD) were measured. Correlations between the amount of amyloid present (amyloid burden), fiber subtype, and Neuropathy Impairment Score in the Lower Limbs (NIS-LL) were evaluated. RESULTS: IENFD, SGNFD, and PMNFD were all significantly reduced in TTR-FAP patients versus healthy controls, whereas TTR-noPN subjects had intermediate reductions. Lower nerve fiber densities were associated with NIS-LL (p < 0.001). Congo red staining revealed brilliant red amyloid deposits confirmed by apple-green birefringence within dermal collagen, sweat glands, and arrector pili that engulfed axons. The diagnostic sensitivity and specificity to detect amyloid in skin were 70% and 100%. Both AL amyloidosis and 2 of 10 TTR-noPN subjects were Congo red-positive. Amyloid burden correlated with IENFD (r = -0.63), SGNFD (r = -0.67), PMNFD (r = -0.50), and NIS-LL (r = -0.57). Wild-type TTR staining was less prominent in TTR-FAP patients. INTERPRETATION: Cutaneous amyloid was detected in 70% of TTR-FAP and 20% of TTR-noPN subjects. Amyloid burden correlated strongly with reductions in IENFD, SGNFD, PMNFD, and NIS-LL. Skin is an attractive tissue to establish an amyloid diagnosis, and amyloid burden has potential as a biomarker to detect treatment effect in TTR-FAP drug trials. Ann Neurol 2017;82:44-56.
[Mh] Termos MeSH primário: Neuropatias Amiloides Familiares/metabolismo
Neuropatias Amiloides Familiares/patologia
Amiloide/metabolismo
Fibras Nervosas/patologia
Pele/metabolismo
Pele/patologia
Glândulas Sudoríparas/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Neuropatias Amiloides Familiares/genética
Biomarcadores/metabolismo
Estudos de Casos e Controles
Neuropatias Diabéticas/metabolismo
Neuropatias Diabéticas/patologia
Feminino
Heterozigoto
Seres Humanos
Masculino
Meia-Idade
Mutação/genética
Pré-Albumina/genética
Índice de Gravidade de Doença
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amyloid); 0 (Biomarkers); 0 (Prealbumin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170610
[St] Status:MEDLINE
[do] DOI:10.1002/ana.24972



página 1 de 85 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde