Search results for " pathology"
showing 10 items of 2852 documents
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…
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 (…
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…
Arthroscopic approach for treating a pigmented villonodular sinovitis of TMJ. A case report
2017
The present report describes the case of a 29-year-old man referred to our service for TMJ pain and progressive reduction of the mouth opening. Differential diagnostics included rheumatologic diseases, monoarthritis and intraarticular lumps. In this line, a face CT scan and a MRI of TMJ were carried out in order to ensure a proper diagnosis. These tests showed a solid lesion into the joint cavity. In view of that, we decided to perform a diagnostic and therapeutic arthroscopy of TMJ. Histopathological studies confirmed the diagnosis of pigmented villonodular synovitis. The main aim of this report is to describe this rare syndrome with the goal of proposing suitable treatments. Moreover, we …
Evaluation of the osteoclastogenic process associated with RANK / RANK-L / OPG in odontogenic myxomas
2018
Background Odontogenic myxoma (OM) is a benign intraosseous neoplasm that exhibits local aggressiveness and high recurrence rates. Osteoclastogenesis is an important phenomenon in the tumor growth of maxillary neoplasms. RANK (Receptor Activator of Nuclear Factor κappa B) is the signaling receptor of RANK-L (Receptor activator of nuclear factor kappa-Β ligand) that activates the osteoclasts. OPG (osteoprotegerin) is a decoy receptor for RANK-L that inhibits pro-osteoclastogenesis. The RANK / RANKL / OPG system participates in the regulation of osteolytic activity under normal conditions, and its alteration has been associated with greater bone destruction, and also with tumor growth. Object…
Obesity and functional gait recovery after total hip and total knee arthroplasties : clinical and biomechanical analysis
2018
Introduction : Body Mass Index (BMI) impact on gait recovery after total hip and total knee arthroplasty (THA and TKA) remains misunderstood. Few studies have analyzed the influence of BMI on the recovery of hip and knee range of motion (ROM) during gait or walking speed after THA and TKA. Our objective was to assess this impact preoperatively and post-operatively using both 3D gait analysis and clinical assessment. Our hypothesis was that obesity (BMI> 30kg /m2) would be a negative factor in the recovery of gait parameters.Material and methods: After conducting a systematic review of the literature on functional recovery after total prostheses of the lower limb (THA and TKA) to ensure the …
Non-healing tongue ulcer in a rheumatoid arthritis patient medicated with leflunomide. An adverse drug event?
2017
Leflunomide is a member of the disease modifying anti-rheumatic drugs group used as a treatment modality in active rheumatoid and psoriatic arthritis. “Oral ulcers” are reported in 3-5% of leflunomide medicated rheumatoid arthritis patients with adverse events, but they are not described in detail in the literature. We present a case of an ulcer in the tongue of a rheumatoid arthritis patient managed with leflunomide and contemplate on its pathogenesis. Key words:Leflunomide, oral ulcer, DHODH.
Association between Serum Osteoprotegerin Levels and Severity of Coronary Artery Disease in Patients with Acute Myocardial Infarction
2021
International audience; Background. Osteoprotegerin (OPG), a glycoprotein of the tumour necrosis factor (TNF) superfamily, is one of the main biomarkers for vascular calcification. Aim. We aimed to evaluate the association between serum OPG levels and extent of coronary lesions in patients with acute myocardial infarction (MI). Methods. Consecutive patients hospitalized for an acute MI who underwent coronary angiography were included. SYNTAX score was calculated to assess the severity of coronary artery disease. The population was analysed in low (5 (3–6)), medium (11 (9–13)) and high (20 (18–23)) tertiles of SYNTAX score. Results. Among the 378 patients included, there was a gradual increa…
Florid cemento-osseous dysplasia : report of 2 cases
2018
Introduction Florid cemento-osseous dysplasia is a non-neoplastic fibro-osseous lesion which often has an asymptomatic slow growth. Unfortunately, these lesions are usually diagnosed through routine radiographic examination. The aim of this study was to describe the main clinical, radiological and histological characteristics of two case reports diagnosed with florid cemento-osseous dysplasia. Case reports Two cases of florid cemento-osseous dysplasia with different clinical and radiological features were presented. Panoramic radiographs showed multiple radiopacities compatible with fibro-osseous lesions in distinct areas of the maxillary bones. The histological study revealed a sclerotic m…
Juxtacortical mandibular chondrosarcoma during pregnancy : a case report
2017
Chondrosarcoma is one of the most common malignant bone tumors in adults. It use to affect upper arm, pelvis and thigh bone. A wide surgical extirpation represent the gold standard to treat this disorder. In fact, radiotherapy and chemotherapy are no useful. Interestingly, chondrosarcoma is rare in head and neck (HNCS) and extremely uncommon during pregnancy. Thus, there is a lack of evidence about the proper treatment in these cases. A wide surgical extirpation is also considered the most effective procedure in HNCS. There are no consistent evidences about the he role of radiation and chemotherapy. In view of that, the present study describes a case of juxtacortical mandibular chondrosarco…