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Pesquisa : C23.550.744 [Categoria DeCS]
Referências encontradas : 610 [refinar]
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[PMID]:28643719
[Au] Autor:Damarla N; Linga P; Goyal M; Tadisina SR; Reddy GS; Bommisetti H
[Ad] Endereço:Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India.
[Ti] Título:Alkaptonuria: A case report.
[So] Source:Indian J Ophthalmol;65(6):518-521, 2017 Jun.
[Is] ISSN:1998-3689
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.
[Mh] Termos MeSH primário: Alcaptonúria/complicações
Túnica Conjuntiva/patologia
Córnea/patologia
Oftalmopatias/etiologia
Ocronose/complicações
Retina/patologia
Esclera/patologia
[Mh] Termos MeSH secundário: Adulto
Alcaptonúria/diagnóstico
Diagnóstico Diferencial
Oftalmopatias/diagnóstico
Seres Humanos
Masculino
Ocronose/diagnóstico
Tomografia de Coerência Óptica/métodos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170624
[St] Status:MEDLINE
[do] DOI:10.4103/ijo.IJO_337_16


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[PMID]:28240677
[Au] Autor:Bozkurt S; Aktekin L; Ugurlu FG; Balci S; Sezer N; Akkus S
[Ad] Endereço:From the Atatürk Educational and Research Hospital, Physical Medicine and Rehabilitation Clinic (S. Bozkurt); and Physical Medicine and Rehabilitation Department (LA, FGU, NS, SA) and Pathology Department (S. Balci), Yildirim Beyazit University, Ankara, Turkey.
[Ti] Título:An Unusual Cause of Myelopathy: Ochronotic Spondyloarthropathy With Positive HLA B27.
[So] Source:Am J Phys Med Rehabil;96(11):e206-e209, 2017 Nov.
[Is] ISSN:1537-7385
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ochronosis is a late developing complication of alkaptonuria, a black brownish pigment in the fibrous and cartilaginous tissues. Although most previous studies reported alkaptonuria and back pain due to ochronosis, thoracic myelopathy is an extremely rare complication. In this report, a paraparetic patient who has ochronotic spondiloarthropathy with the presence of HLA B27 antigen is described. He had low back and leg pain and morning stiffness for 5 yrs. Last year, these were followed by tingling, numbness, and weakness the in lower extremities and he was operated on with preliminary diagnosis of prolapsed disc herniation and cord compression. Surgery is suggested for disc herniations related to ochronotic spondyloarthropathy if it is necessary or neurologic symptoms are present. However, his pain and weakness have partially recovered after the operation. After medical and physical treatment, he showed clinically significant improvements. This case report demonstrates that the management of ochronosis needs a multidisciplinary approach with physiologic, neurologic, and psychologic effects and proper treatment may significantly improve functional outcomes in these patients.
[Mh] Termos MeSH primário: Antígeno HLA-B27/sangue
Ocronose/complicações
Doenças da Medula Espinal/etiologia
Espondiloartropatias/complicações
Vértebras Torácicas
[Mh] Termos MeSH secundário: Seres Humanos
Masculino
Meia-Idade
Ocronose/imunologia
Paraparesia/complicações
Paraparesia/imunologia
Doenças da Medula Espinal/imunologia
Espondiloartropatias/imunologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HLA-B27 Antigen)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170228
[St] Status:MEDLINE
[do] DOI:10.1097/PHM.0000000000000727


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[PMID]:28028161
[Au] Autor:Taylor AM; Hsueh MF; Ranganath LR; Gallagher JA; Dillon JP; Huebner JL; Catterall JB; Kraus VB
[Ad] Endereço:Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Lancaster, UK a.m.taylor@lancs.ac.uk.
[Ti] Título:Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.
[So] Source:Rheumatology (Oxford);56(1):156-164, 2017 Jan.
[Is] ISSN:1462-0332
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis. Typically, this occurs in joint cartilages, leading to an early onset, rapidly progressing osteoarthropathy. The aim of this study was to examine tissue turnover in cartilage affected by ochronosis and its role in disease initiation and progression. METHODS: With informed patient consent, hip and knee cartilages were obtained at surgery for arthropathy due to AKU (n = 6; 2 knees/4 hips) and OA (n = 12; 5 knees/7 hips); healthy non-arthritic (non-OA n = 6; 1 knee/5 hips) cartilages were obtained as waste from trauma surgery. We measured cartilage concentrations (normalized to dry weight) of racemized aspartate, GAG, COMP and deamidated COMP (D-COMP). Unpaired AKU, OA and non-OA samples were compared by non-parametric Mann-Whitney U test. RESULTS: Despite more extractable total protein being obtained from AKU cartilage than from OA or non-OA cartilage, there was significantly less extractable GAG, COMP and D-COMP in AKU samples compared with OA and non-OA comparators. Racemized Asx (aspartate and asparagine) was significantly enriched in AKU cartilage compared with in OA cartilage. CONCLUSIONS: These novel data represent the first examination of cartilage matrix components in a sample of patients with AKU, representing almost 10% of the known UK alkaptonuric population. Compared with OA and non-OA, AKU cartilage demonstrates a very low turnover state and has low levels of extractable matrix proteins.
[Mh] Termos MeSH primário: Envelhecimento/metabolismo
Alcaptonúria/metabolismo
Cartilagem Articular/metabolismo
Artropatias/metabolismo
Ocronose/metabolismo
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Ácido Aspártico/metabolismo
Biomarcadores/metabolismo
Proteína de Matriz Oligomérica de Cartilagem/metabolismo
Estudos de Casos e Controles
Feminino
Glicosaminoglicanos/metabolismo
Articulação do Quadril
Seres Humanos
Articulação do Joelho
Masculino
Meia-Idade
Osteoartrite do Quadril/metabolismo
Osteoartrite do Joelho/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Cartilage Oligomeric Matrix Protein); 0 (Glycosaminoglycans); 30KYC7MIAI (Aspartic Acid)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170620
[Lr] Data última revisão:
170620
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161229
[St] Status:MEDLINE
[do] DOI:10.1093/rheumatology/kew355


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[PMID]:27943305
[Au] Autor:Lartey M; Krampa FD; Abdul-Rahman M; Quarcoo NL; Yamson P; Hagan PG; Tettey Y; Gyasi R; Adjei AA
[Ad] Endereço:Dermatology Unit, University of Ghana School of Medicine and Dentistry, Accra, Ghana.
[Ti] Título:Use of skin-lightening products among selected urban communities in Accra, Ghana.
[So] Source:Int J Dermatol;56(1):32-39, 2017 Jan.
[Is] ISSN:1365-4632
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The practice of skin lightening has been reported from North America, Europe, Asia, and Africa. In literature, some prevalence rates exceed 50%, and both sexes are involved. Common agents used include hydroquinone, mercury, corticosteroids, and caustic agents. The agents are easily accessible and affordable with very little regulation. Cutaneous and systemic side effects occur but do not appear to be a deterrent, as the notion of light skin as a surrogate for beauty is strong. In Ghana, anecdotal reports of high bleaching rates among certain urban communities resulted in a study supported by the Food and Drugs Authority to determine various facets of this practice. METHODS: A cross-sectional study among adults in selected urban fishing communities of Accra was undertaken. Consecutive cases were enrolled after written informed consent. A questionnaire was administered, followed by physical examination and clinical photographs. Descriptive statistics were used to analyze the data. RESULTS: Of the 555 participants from the three communities, prevalence was 279 (50.3%). Duration of use ranged from 2 months to 17 years. Approximately 212 (76%) used more than one product, and 231 (82%) used agents on their face and body. Dermatological features were hypopigmentation 270 (96.8%), other color changes including ochronosis 241 (86.4%), changes in consistency 141 (50.3%), striae 157 (56.3%), and infections 42 (15.1%). CONCLUSIONS: The prevalence of skin bleaching was 50.3% in these communities, which is high considering the adverse effects from the practice. We recommend regulation of products by enforcing the law, more education, and a population prevalence study.
[Mh] Termos MeSH primário: Hipopigmentação/induzido quimicamente
Ocronose/induzido quimicamente
Dermatopatias Infecciosas/induzido quimicamente
Preparações Clareadoras de Pele/efeitos adversos
População Urbana/estatística & dados numéricos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos Transversais
Feminino
Gana
Seres Humanos
Hiperpigmentação/induzido quimicamente
Masculino
Meia-Idade
Fotografia
Exame Físico
Preparações Clareadoras de Pele/uso terapêutico
Inquéritos e Questionários
Fatores de Tempo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Skin Lightening Preparations)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE
[do] DOI:10.1111/ijd.13449


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[PMID]:27865997
[Au] Autor:Braconi D; Millucci L; Bernini A; Spiga O; Lupetti P; Marzocchi B; Niccolai N; Bernardini G; Santucci A
[Ad] Endereço:Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy.
[Ti] Título:Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
[So] Source:Biochim Biophys Acta;1861(2):135-146, 2017 02.
[Is] ISSN:0006-3002
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Recently, the potential role of hitherto unidentified proteins in the ochronotic process was hypothesized, and the presence of Serum Amyloid A (SAA) in alkaptonuric tissues was reported, allowing the classification of AKU as a novel secondary amyloidosis. METHODS: Gel electrophoresis, Western Blot, Congo Red-based assays and electron microscopy were used to investigate the effects of HGA on the aggregation and fibrillation propensity of amyloidogenic proteins and peptides [Aß(1-42), transthyretin, atrial natriuretic peptide, α-synuclein and SAA]. LC/MS and in silico analyses were undertaken to identify possible binding sites for HGA (or its oxidative metabolite, a benzoquinone acetate or BQA) in SAA. RESULTS: We found that HGA might act as an amyloid aggregation enhancer in vitro for all the tested proteins and peptides in a time- and dose- dependent fashion, and identified a small crevice at the interface between two HGD subunits as a candidate binding site for HGA/BQA. CONCLUSIONS: HGA might be an important amyloid co- component playing significant roles in AKU amyloidosis. GENERAL SIGNIFICANCE: Our results provide a possible explanation for the clinically verified onset of amyloidotic processes in AKU and might lay the basis to setup proper pharmacological approaches to alkaptonuric ochronosis, which are still lacking.
[Mh] Termos MeSH primário: Proteínas Amiloidogênicas/metabolismo
Ácido Homogentísico/farmacologia
Agregação Patológica de Proteínas/induzido quimicamente
[Mh] Termos MeSH secundário: Alcaptonúria/metabolismo
Peptídeos beta-Amiloides/metabolismo
Amiloidose/metabolismo
Fator Natriurético Atrial/metabolismo
Sítios de Ligação/efeitos dos fármacos
Tecido Conjuntivo/efeitos dos fármacos
Tecido Conjuntivo/metabolismo
Homogentisato 1,2-Dioxigenase/metabolismo
Seres Humanos
Ocronose/metabolismo
Oxirredução/efeitos dos fármacos
Pré-Albumina/metabolismo
Proteína Amiloide A Sérica/metabolismo
alfa-Sinucleína/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amyloid beta-Peptides); 0 (Amyloidogenic Proteins); 0 (Prealbumin); 0 (Serum Amyloid A Protein); 0 (alpha-Synuclein); 85637-73-6 (Atrial Natriuretic Factor); EC 1.13.11.5 (Homogentisate 1,2-Dioxygenase); NP8UE6VF08 (Homogentisic Acid)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161121
[St] Status:MEDLINE


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[PMID]:27740398
[Au] Autor:Rahimizadeh A; Soufiani H; Hassani V; Rahimizadeh A
[Ad] Endereço:Pars Advanced and Minimally Invasive Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran; and.
[Ti] Título:Symptomatic pseudarthrosis in ochronotic spine: case report.
[So] Source:J Neurosurg Spine;26(2):220-228, 2017 Feb.
[Is] ISSN:1547-5646
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In this study the authors report the first example of spinal pseudarthrosis in a patient with ochronosis, and they describe the application of posterior-only 360° surgery as an alternative approach to combined anterior-posterior surgery in the management of pseudarthrosis of an ankylosed spine, regardless of its etiology. Spinal involvement in ochronosis produces loss of flexibility and ankylosis of thoracic and lumbar segments. Pseudarthrosis is a serious complication of the diseases that present with ankylosis of the spine. However, its occurrence in ochronotic spine has not been reported previously. Evaluation of progressive paraparesis in a 68-year-old man with ochronosis revealed pseudarthrosis at the T11-12 level. Circumferential dural sac decompression, debridement of the disc space, interbody fusion, and screw-rod fixation were all done via a posterior-only approach. Postoperatively the patient exhibited a marked recovery in terms of pain and neurological status. At the 3-month follow-up, he was able to walk independently. Ochronosis should be included in the etiology of pseudarthrosis. With aggravation of back pain and the appearance of neurological deficits in an already stable patient with any ankylosing disease, pseudarthrosis should be suspected. Furthermore, single-stage, 360°, posterior-only surgery may obviate the need for single-stage or staged anterior-posterior surgical intervention in patients with pseudarthrosis of the thoracic and lumbar spine.
[Mh] Termos MeSH primário: Ocronose/complicações
Ocronose/cirurgia
Pseudoartrose/etiologia
Pseudoartrose/cirurgia
Vértebras Torácicas/cirurgia
[Mh] Termos MeSH secundário: Idoso
Descompressão Cirúrgica/métodos
Diagnóstico Diferencial
Evolução Fatal
Seres Humanos
Fixadores Internos
Masculino
Ocronose/patologia
Ocronose/urina
Pseudoartrose/patologia
Pseudoartrose/urina
Fusão Vertebral/métodos
Vértebras Torácicas/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161015
[St] Status:MEDLINE
[do] DOI:10.3171/2016.5.SPINE15671


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[PMID]:27817975
[Au] Autor:Karaoglu S; Karaaslan F; Mermerkaya MU
[Ad] Endereço:Acibadem Kayseri Hospital, Kayseri, Turkey. Electronic address: sinankaraoglu@hotmail.com.
[Ti] Título:Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
[So] Source:Acta Orthop Traumatol Turc;50(5):584-586, 2016 Oct.
[Is] ISSN:1017-995X
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels. Homogentisic acid and its oxidation products can accumulate in hyaline cartilage, tendons, and ligaments. A 55-year-old male was admitted complaining of worsening chronic pain in his left knee. A radiographic evaluation showed tricompartmental end- stage osteoarthritis. A cemented total knee replacement was performed. At the 10-year follow-up, he had returned to full activity, had no knee pain, and was very satisfied with the outcome. No abnormality was observed in the femoral, tibial, or patellar components on radiography. We believe that total knee replacement is a good option in a patient with marked degenerative arthritis secondary to ochronotic arthritis.
[Mh] Termos MeSH primário: Alcaptonúria/complicações
Artroplastia do Joelho/métodos
Ocronose/complicações
Osteoartrite do Joelho/cirurgia
[Mh] Termos MeSH secundário: Dor Crônica/etiologia
Ácido Homogentísico/urina
Seres Humanos
Articulação do Joelho/cirurgia
Masculino
Meia-Idade
Osteoartrite do Joelho/diagnóstico por imagem
Radiografia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
NP8UE6VF08 (Homogentisic Acid)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170209
[Lr] Data última revisão:
170209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161108
[St] Status:MEDLINE


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[PMID]:27393085
[Au] Autor:Blumeyer A; Röwert-Huber J; Nast A; Reidel U
[Ad] Endereço:Klinik für Dermatologie, Venerologie und Allergologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.
[Ti] Título:[Progressive facial hyperpigmentation].
[Ti] Título:Progrediente Hyperpigmentierungen im Gesicht..
[So] Source:Hautarzt;67(11):922-924, 2016 Nov.
[Is] ISSN:1432-1173
[Cp] País de publicação:Germany
[La] Idioma:ger
[Mh] Termos MeSH primário: Hidroquinonas/efeitos adversos
Ocronose/induzido quimicamente
Ocronose/diagnóstico
Transtornos da Pigmentação/induzido quimicamente
Transtornos da Pigmentação/diagnóstico
Preparações Clareadoras de Pele/efeitos adversos
[Mh] Termos MeSH secundário: Cosméticos
Diagnóstico Diferencial
Progressão da Doença
Dermatoses Faciais/induzido quimicamente
Dermatoses Faciais/diagnóstico
Feminino
Seres Humanos
Meia-Idade
Pigmentação da Pele/efeitos dos fármacos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cosmetics); 0 (Hydroquinones); 0 (Skin Lightening Preparations)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170916
[Lr] Data última revisão:
170916
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160710
[St] Status:MEDLINE


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[PMID]:27320769
[Au] Autor:Akpolat ND; Akpola AO; Metin A
[Ad] Endereço:Department of Dermatology, Beykoz State Hospital, Istanbul, Turkey.
[Ti] Título:Senile-onset ochronosis.
[So] Source:Indian J Dermatol Venereol Leprol;82(6):744, 2016 Nov-Dec.
[Is] ISSN:0973-3922
[Cp] País de publicação:India
[La] Idioma:eng
[Mh] Termos MeSH primário: Hiperpigmentação/diagnóstico
Ceratose/diagnóstico
Ocronose/diagnóstico
[Mh] Termos MeSH secundário: Idoso
Feminino
Seres Humanos
Hiperpigmentação/complicações
Ceratose/complicações
Ocronose/complicações
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160621
[St] Status:MEDLINE
[do] DOI:10.4103/0378-6323.184204


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[PMID]:27207988
[Au] Autor:Jasper J; Metsaars W; Jansen J
[Ad] Endereço:Department of Orthopedics, Alrijne Ziekenhuis, Leiderdorp, The Netherlands.
[Ti] Título:Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia.
[So] Source:BMJ Case Rep;2016, 2016 May 20.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Ochronosis is a rare autosomal recessive metabolic disease caused by homogentisic acid oxidase enzyme deficiency. High homogentisic acid levels will eventually result in black deposits in skin, sclerae, connective tissues and urine (alkaptonuria). It can lead to early degeneration of connective tissues and cartilage. Ochronosis can damage normal cartilage, leading to secondary osteoarthritis. The diagnosis is often delayed because of its low prevalence and non-specific early symptoms. In our patient, the secondary osteoarthritis due to ochronosis deposits in the cartilage was treated by total knee arthroplasty, with good clinical outcome. This article reports the first case of ochronosis with secondary osteoarthritis of the knee in a patient previously diagnosed with cryptogenic organising pneumonia (COP).
[Mh] Termos MeSH primário: Artroplastia do Joelho/métodos
Pneumonia em Organização Criptogênica/complicações
Ocronose/complicações
Osteoartrite do Joelho/diagnóstico por imagem
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Meia-Idade
Osteoartrite do Joelho/etiologia
Osteoartrite do Joelho/cirurgia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170131
[Lr] Data última revisão:
170131
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160522
[St] Status:MEDLINE



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