Search results for "Pathology"

2016

Objectives Human leukocyte antigen (HLA)-B27 (B27) is the strongest genetic factor associated with development of Ankylosing Spondylitis and other spondyloarthropathies (SpA), yet the role it plays in disease pathogenesis remains unclear. We investigated the expression of potentially pathogenic non-conventional heavy chain forms (NC) of B27 in synovial and intestinal tissues obtained from SpA patients. We also determined the presence of NC-B27 in joints, lymphoid and gastrointestinal tissue from B27 transgenic (TG1) rats with M.tuberculosis-induced SpA.

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

2014

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR seque…

Treatment of Knee Osteoarthritis with Bone Marrow-Derived Mononuclear Cell Injection: 12-Month Follow-up.

2018

Objectives To evaluate the main symptoms of knee osteoarthritis (OA) and tissue structure changes after a single dose bone marrow–derived mononuclear cell (BM MNC) intra articular injection. Case series study. Patients with knee OA Kellgren Lawrence (K-L) grade II and III received 1 injection of BM MNC. The clinical results were analyzed with the Knee injury and Osteoarthritis Outcome Score (KOOS) and Knee Society Score (KSS) before, 3, 6, and 12 months after injection. Radiological evaluation was performed with a calibrated x-ray and the magnetic resonance (MR) imaging before and 6 to 7 months postinjection. Results A total of 34 knees were treated with BM MNC injections. Mean (±SD) age of…

Detection of bifid mandibular condyle using computed tomography

2011

Objective: To determine the frequency and characteristics of bifid mandibular condyle (BMC) using computed tomography (CT) evaluation. Study Design: A retrospective study was carried out using the CT records of 550 patients referred to the Medical School of Erciyes University (Kayseri, Turkey) between 2007 and 2010. T-tests were used to compare frequency of BMC between the left and right sides and between female and male patients. Statistical analysis was performed using SPSS software and a chi-squared test. Results: Of the 550 Patients, 10 patients (1.82%) were found to have BMCs. Five patients were female (50%) and five were male (50%). Of these 10 patients, 7 (70%) had unilateral and 3 (…

Parosteal osteosarcoma of the talus.

1995

A case of parosteal osteosarcoma in the very rare location of the talus is presented. The radiological, pathological, and clinical characteristics of parosteal osteosarcoma are described and the differential diagnosis discussed.

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

2004

We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of alpha-dystroglycan. In this report we extend these observations and report a clear correlation between the residual expression of alpha-dystroglycan and the phenotype. Three broad categories were identified. Patients at the severe end of the clinical spectrum (MDC1C) were compound heterozygote between a null allele and a missense mutation or carried two missense mutations and displayed a profound depletion of alpha-d…

Chemical heterogeneity of amyloid in the carpal tunnel syndrome

1987

140 biopsies from 108 patients afflicted with the carpal tunnel syndrome were studied, 27 of whom showed deposition of amyloid, in 6 of them to such an extent that the amyloid was considered significant in the pathogenesis of the carpal tunnel syndrome. Morphologically, vessels and ligaments were affected and especially the peritendinous structures. As it was always part of generalized amyloidosis, the amyloid in the carpal tunnel consisted immunohistologically of amyloid A in three cases (including one case with simultaneous amyloid deposition of the AA- and the AB-type), of amyloid A kappa in one case, of amyloid of prealbumin origin in seventeen cases and of AB-amyloid in eight cases. We…

Targeting of the transcription factor STAT4 by antisense phosphorothioate oligonucleotides suppresses collagen-induced arthritis

2007

Abstract The transcription factor STAT4 mediates signals of various proinflammatory cytokines, such as IL-12, IL-15, and IL-23, that initiate and stabilize Th1 cytokine production. Although Th1 cytokine production has been suggested to play a major pathogenic role in rheumatoid arthritis, the role of STAT4 in this disease is poorly understood. In this study, we demonstrate a key functional role of STAT4 in murine collagen-induced arthritis (CIA). In initial studies we found that STAT4 expression is strongly induced in CD4+ T cells and to a lesser extent in CD11b+ APCs during CIA. To analyze the role of STAT4 for arthritis manifestation, we next investigated the outcome of interfering with S…

The role of innate and lymphoid IL-22-producing cells in the immunopathology of primary Sjögren's syndrome

2014

In primary Sjögren's syndrome (pSS) a complex of interconnections between epithelial barrier, innate and adaptive immunity occurs. IL-22 is a pleiotropic cytokine that in pSS may be placed at the intersection of the adaptive and innate branches of immunity. Some evidence suggests that, in pSS, IL-22 may play a prominent pro-inflammatory role driving the early phase of tissue and systemic inflammation and participating in the self-perpetuation of disease. Despite contradictory data in literature about the role of NK cells in pSS, recent data also suggest an important contribution of this subset of cells of the innate immune system in the development and perpetuation of inflammation. Here, we…

Altered (oxidized) C1q induces a rheumatoid arthritis-like destructive and chronic inflammation in joint structures in arthritis-susceptible rats.

1997

Previous studies have identified an altered C1q molecule in synovial fluids from the joints of rheumatoid arthritis patients. We therefore immunized arthritis-susceptible Lewis 1A.AVN rats with either native C1q (C1q nat), altered (oxidized) C1q (C1q ox), or type II collagen (CII, induces arthritis in these animals), in order to induce arthritis. Unlike C1q nat, both CII and C1q ox were able to induce swelling and erythema of joints consistent with an arthritis-like inflammatory reaction. Histopathological evaluation of individual joint sections revealed synovitis, bursitis and tendovaginitis, massive joint destruction, and severe pannus formation. In a time-course study, no differences in …