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Distinctive Clinical (distinctive + clinical)

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Medical Sciences	100%

Selected Abstracts

Segmental testicular ischaemia: presentation, management and follow-up

INTERNATIONAL JOURNAL OF ANDROLOGY, Issue 5 2009
D. Gianfrilli
Summary Segmental infarction of the testis is a rare event. Less than 40 cases have been reported in the literature and its aetiology remains largely unknown. The diagnosis is challenging and its identification crucial as partial ischaemia is frequently confused with testicular tumours and unnecessarily treated with orchiectomy. The objectives of this study are to: (i) raise awareness of this rare condition, (ii) provide the distinctive clinical and radiological features enabling pre-operative diagnosis, (iii) promote appropriate screening of causative factors and (iv) propose an alternative management approach to avoid surgery and preserve fertility. We describe three cases of partial testicular ischaemia in men presenting with reduced sperm quality. The cases demonstrate the ultrasound and magnetic resonance imaging appearance of testicular ischaemia. The surveillance strategy adopted for these lesions indicates that over 2 years of follow-up, marginal changes in the lesions can occur. Histology revealed that infiltration by stromal cells, leucocytes and macrophages is responsible for the remodelling of these lesions. Screening of risk factors for thromboembolism revealed that all patients carried a methylenetetrahydrofolate reductase 677C,T (MTHFR) mutation in a gene involved in folate metabolism, and either borderline or elevated homocysteine levels. Distinctive features permit the pre-operative diagnosis of segmental testicular ischaemia. There are sufficient data to assert that a surveillance strategy is safe and feasible. We speculate that the defects in folate metabolism may pre-dispose individuals to the development of testicular infarction and infertility. [source]

Fibroblastic rheumatism: fibromatosis rather than non-Langerhans cell histiocytosis

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 5 2010
Nicolas Kluger
Background: Fibroblastic rheumatism is a unique fibro-proliferative disease affecting the skin and joints. It is characterized by distinctive clinical and histological features related to benign spindle-shaped cells proliferation. Pediatric reports are scarce in the literature. Objective: We describe here a new case in a 10-year-old boy and discuss the potential origin of the cell proliferation. Methods: Clinical findings, radiology, microscopic examination and outcome are reviewed. Histopathology and immunochemistry studies were performed on skin biospies using CD68, CD163, desmin, factor XIIIa, CD34, smooth muscle actin, PS100, epithelial membrane antigen, and calponin. Results: Histological sections disclosed a rather circumscribed nonencapsulated nodular infiltrate, invading the dermis and the upper subcutaneous tissue, consisted of a proliferation of spindle or stellate-shaped cells and thickened collagen fibers. Orcein staining showed disappearance of the elastic network. Aponeurosis and muscle were normal. A mild perivascular lymphohistiocytic infiltrate was noted. Calponin-staining was less strongly expressed as SMA, and some of them but not all were CD68 positive, as well. On the other hand, all were CD34, CD163, FXIIIa, PS100, EMA and desmin-negative. Conclusion: The true origin of these cells remains unclear. Some authors have speculated a histiocytic origin. However, immuno-chemical staining in our case failed to confirm this hypothesis and instead supported a fibroblastic/myofibroblastic origin. Given the clinical course and the histological and immunohistochemical results, we suggest that FR should be added to the group of fibromatoses. Kluger N, Dumas-Tesici A, Hamel D, Brousse N, Fraitag S. Fibroblastic rheumatism: fibromatosis rather than non-Langerhans cell histiocytosis. [source]

Inflammatory myopathies: Clinical, diagnostic and therapeutic aspects

MUSCLE AND NERVE, Issue 4 2003
Frank L. Mastaglia MD
Abstract The three major forms of immune-mediated inflammatory myopathy are dermatomyositis (DM), polymyositis (PM), and inclusion-body myositis (IBM). They each have distinctive clinical and histopathologic features that allow the clinician to reach a specific diagnosis in most cases. Magnetic resonance imaging is sometimes helpful, particularly if the diagnosis of IBM is suspected but has not been formally evaluated. Myositis-specific antibodies are not helpful diagnostically but may be of prognostic value; most antibodies have low sensitivity. Muscle biopsy is mandatory to confirm the diagnosis of an inflammatory myopathy and to allow unusual varieties such as eosinophilic, granulomatous, and parasitic myositis, and macrophagic myofasciitis, to be recognized. The treatment of the inflammatory myopathies remains largely empirical and relies upon the use of corticosteroids, immunosuppressive agents, and intravenous immunoglobulin, all of which have nonselective effects on the immune system. Further controlled clinical trials are required to evaluate the relative efficacy of the available therapeutic modalities particularly in combinations, and of newer immunosuppressive agents (mycophenolate mofetil and tacrolimus) and cytokine-based therapies for the treatment of resistant cases of DM, PM, and IBM. Improved understanding of the molecular mechanisms of muscle injury in the inflammatory myopathies should lead to the development of more specific forms of immunotherapy for these conditions. Muscle Nerve 27:407,425, 2003 [source]

Astroblastoma: Clinicopathologic Features and Chromosomal Abnormalities Defined by Comparative Genomic Hybridization

BRAIN PATHOLOGY, Issue 3 2000
Daniel J. Brat M.D., Ph.D.
Astroblastomas are uncommon brain tumors whose classification and histogenesis have been debated. Precise criteria for diagnosis have been described only recently, but have not found wide acceptance. We report the clinical, radiographic, and histopathologic features of 20 astroblastomas, and the chromosomal alterations in seven cases as detected by comparative genomic hybridization (CGH). The tumors occurred both in children and young adults (average age, 14 years), most often as well circumscribed, peripheral, cerebral hemispheric masses. Radiographically, the lesions were contrastenhancing and solid, often with a cystic component. All were characterized histologically by astroblastic pseudorosettes, and most displayed prominent perivascular hyalinization, regional hyaline changes, and pushing borders in regard to adjacent brain. Tumor cells were strongly immunoreactive for S-100 protein, GFAP, and vimentin. Staining for EMA was focal. Ten of 20 astroblastomas were classified as "well differentiated" and 10 were classified as "malignant," largely on the basis of hypercellular zones with increased mitotic indices, vascular proliferation, and necrosis with pseudopalisading. All 10 well differentiated lesions and 8 of 10 malignant lesions were completely resected. None of the well differentiated astroblastomas recurred within the limited follow-up period. Three malignant astroblastomas recurred, including two incompletely resected tumors, and one that had been totally resected. One patient died of disease following recurrence. The most frequent chromosomal alterations detected by CGH were gains of chromosome arm 20q (4/7 tumors) and chromosome 19 (3/7). The combination of these gains occurred in three, including two well differentiated and one malignant astroblastoma. Other alterations noted in two tumors each were losses on 9q, 10, and X. These chromosomal alterations are not typical of ependymoma or infiltrating astrocytic neoplasms, and suggest that astroblastomas may have a characteristic cytogenetic profile in addition to their distinctive clinical, radiographic, and histopathologic features. [source]