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1.
Duodecim ; 128(4): 421-9, 2012.
Artículo en Fi | MEDLINE | ID: mdl-22448555

RESUMEN

Dupuytren's contracture forms nodules and fibril bundles causing the fingers to contract. The pathological tissue contains myofibroblasts exhibiting properties of fibrocytes and smooth muscle cell myoblasts. The disease has a clear-cut family predisposition, but its etiology remains unclear. Diabetes, smoking, heavy drinking and mechanical irritation of the palm are regarded as predisposing factors. Dupuytren's contracture is treated surgically in cases with the limitation of extension in the metacarpophalangeal joints over 30 degrees and 20 degrees in the proximal interphalangeal joints.


Asunto(s)
Contractura de Dupuytren/cirugía , Articulaciones de los Dedos/cirugía , Consumo de Bebidas Alcohólicas/efectos adversos , Complicaciones de la Diabetes/fisiopatología , Contractura de Dupuytren/etiología , Contractura de Dupuytren/genética , Contractura de Dupuytren/fisiopatología , Articulaciones de los Dedos/fisiopatología , Predisposición Genética a la Enfermedad , Humanos , Factores de Riesgo , Fumar/efectos adversos
2.
Mod Pathol ; 23(11): 1544-52, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20676061

RESUMEN

Dupuytren's contracture, a proliferative disease of unknown origin, is characterized by an abnormal fibroblast proliferation process. Evidence from numerous microRNA (miRNA) studies shows that miRNAs have a vital function in many biological processes, for instance, in cellular signaling networks, cell growth, tissue differentiation, and cell proliferation. Our aim was to characterize, to our knowledge for the first time, the miRNA-expression profile of Dupuytren's contracture. The miRNAs identified may have a function in the pathogenesis of Dupuytren's contracture by targeting and regulating important pathways. We compared the miRNA-expression profile of 29 Dupuytren's contracture patients with that of control samples (fibroblast cells and palmar fascia). Some of the miRNAs identified in our Dupuytren's contracture samples, including miR-29c, miR-130b, miR-101, miR-30b, and miR-140-3p, were found to regulate important genes related to the ß-catenin pathway: WNT5A, ZIC1, and TGFB1. Expression profiles of these genes reanalyzed from published gene-expression data from similar patient material correlated with our miRNA results. Analysis was also performed for groups of patients with recurrent/non-recurrent and patients with hereditary/non-hereditary Dupuytren's contracture, but no significant differences appeared in miRNA-expression profiles of these groups. Identification of unique miRNA expression in Dupuytren's contracture may lead to the development of novel molecular therapy for its treatment.


Asunto(s)
Contractura de Dupuytren/genética , Perfilación de la Expresión Génica , MicroARNs/metabolismo , Transducción de Señal/genética , beta Catenina/metabolismo , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Células Cultivadas , Contractura de Dupuytren/metabolismo , Femenino , Finlandia , Predisposición Genética a la Enfermedad , Herencia , Humanos , Masculino , Persona de Mediana Edad , ARN Mensajero/metabolismo
3.
Artículo en Inglés | MEDLINE | ID: mdl-17065125

RESUMEN

Intraosseous schwannoma is an extremely rare, benign neoplasm. Only a few cases involving the bones of the hand have been reported, and none of these cases has involved middle phalanx. We present a case of intraosseous schwannoma of the middle phalanx of the right ring finger.


Asunto(s)
Neoplasias Óseas/diagnóstico , Falanges de los Dedos de la Mano/cirugía , Neurilemoma/diagnóstico , Anciano , Neoplasias Óseas/cirugía , Femenino , Humanos , Neurilemoma/cirugía
4.
Cancer Genet Cytogenet ; 183(1): 6-8, 2008 May.
Artículo en Inglés | MEDLINE | ID: mdl-18474290

RESUMEN

Dupuytren's contracture (DC), a benign disease of unknown origin, is characterized by abnormal fibroblast proliferation and matrix deposition within the palmar and plantar faciae, causing contracture of the digits. Conventional cytogenetic studies of cultured fibroblast cells from DC nodules have revealed nonrecurrent, but usually normal, clonal (mainly +7, +8, and -Y, plus structural changes) and sporadic (nonclonal) numerical/structural rearrangements. No unique cytogenetic features of DC are known so far. We used 44K oligonucleotide-based array comparative genomic hybridization to obtain a wide pattern of chromosomal imbalances in 18 patients with DC. The genome-wide analysis revealed no changes of DNA copy number sequences. Accordingly, gene amplifications or deletions are apparently not involved in the progression of abnormal fibroblast proliferation and matrix deposition that lead to DC.


Asunto(s)
Contractura de Dupuytren/genética , Dosificación de Gen , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Anciano , Anciano de 80 o más Años , Femenino , Perfilación de la Expresión Génica , Genoma Humano , Humanos , Masculino , Persona de Mediana Edad , Hibridación de Ácido Nucleico/métodos
5.
J Surg Res ; 146(2): 271-5, 2008 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-17996904

RESUMEN

BACKGROUND: Dupuytren's disease (DD) is a hand disease inherited as an autosomal dominant trait with variable penetrance, especially among populations of northern European ancestry. The etiology and pathophysiology of DD are not clear. The purpose of this study was to examine the gene expression profiles of palmar fascia of DD and healthy patients using microarray analysis to highlight the genes that might contribute to the pathogenesis of DD. MATERIALS AND METHODS: Dupuytren contracture samples were taken from excised mature cords of DD patients during aponeurectomies. Control samples were collected from healthy hand trauma patients. Microarray analysis was performed with the Affymetrix HGU133A genome array (Affymetrix, Santa Clara, CA). Expression changes of selected proteins were confirmed at the protein level with Western and dot blotting or by immunohistochemistry. RESULTS: At least an 8-fold change in gene expression was found with 127 genes, including a 90-fold down-regulation of myoglobin and a 14-fold up-regulation of tyrosine kinase-like orphan receptor 2 (= ROR2) from absent to present during the disease. The changes in myoglobin and ROR2 expression were confirmed at the protein level. CONCLUSIONS: In this study, we showed for the first time the connection of ROR2 in Dupuytren's disease. ROR2 and myoglobin may play an important role in the pathophysiology of this disease.


Asunto(s)
Contractura de Dupuytren/genética , Predisposición Genética a la Enfermedad , Mioglobina/biosíntesis , Receptores de Superficie Celular/biosíntesis , Adulto , Anciano , Far-Western Blotting , Contractura de Dupuytren/metabolismo , Femenino , Expresión Génica , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Receptores Huérfanos Similares al Receptor Tirosina Quinasa
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