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71.
Sclerosteosis: report of a case in a black African man 总被引:3,自引:0,他引:3
Paolo Tacconi Paola Ferrigno Luigi Cocco Antonino Carinas Giorgio Tamburini Paolo Bergonzi Marcello Giagheddu 《Clinical genetics》1998,53(6):497-501
Sclerosteosis is a rare genetic disorder of bone modelling, similar to, but distinct from, van Buchem disease; it has been described almost exclusively in Afrikaners of South Africa, a white population of Dutch ancestry. Isolated cases have been reported in a girl in Japan, a boy in Spain, and in multiracial families in Brazil and USA.
Here we report a case of sclerosteosis in a black man born in Senegal. He presented with the full features of the disease: tall stature; syndactyly; nail dysplasia; massive sclerosis of the long tubular bones, the ribs, the pelvis and the skull; multiple cranial nerve involvement: optic atrophy, facial palsy and trigeminal neuralgia. Radiologic examination, visual and brainstem auditory evoked potentials, computerized tomography and magnetic resonance imaging of the skull were performed. This seems to be the first case of the disease in a black African individual, with no known relationship with Dutch ancestry. 相似文献
Here we report a case of sclerosteosis in a black man born in Senegal. He presented with the full features of the disease: tall stature; syndactyly; nail dysplasia; massive sclerosis of the long tubular bones, the ribs, the pelvis and the skull; multiple cranial nerve involvement: optic atrophy, facial palsy and trigeminal neuralgia. Radiologic examination, visual and brainstem auditory evoked potentials, computerized tomography and magnetic resonance imaging of the skull were performed. This seems to be the first case of the disease in a black African individual, with no known relationship with Dutch ancestry. 相似文献
72.
Ghiorzo P Villaggio B Sementa AR Hansson J Platz A Nicoló G Spina B Canepa M Palmer JM Hayward NK Bianchi-Scarrà G 《Human pathology》2004,35(1):25-33
Little is known about the correlation between the loss of p16 expression and tumor progression in familial melanoma; no systematic study has been conducted on p16 expression in melanocytic tumors from patients carrying germline CDKN2A mutations. We analyzed 98 early primary lesions from familial patients, previously tested for germline CDKN2A status, by quantitative immunohistochemistry using 3 p16 antibodies. We found that p16 expression was inversely correlated with tumor progression and was significantly lower in melanomas, including in situ lesions, than in nevi. Of other features analyzed, tumor thickness showed the most significant correlation with p16 levels. Lesions from mutation-negative patients displayed combined nuclear and cytoplasmic staining. However, some mutation-positive lesions (ie, G101W, 113insR, M53I, R24P, and 33ins24), including benign nevi, showed nuclear mislocalization, confirming previous studies suggesting that subcellular distribution indicates functional impairment of p16. 相似文献
73.
Paola Origone Carlo Bellini Debora Sambarino Barbara Banelli Guido Morcaldi Carmen La Rosa Franco Stanzial Claudio Castellan Domenico A. Coviello Cecilia Garrè Eugenio Bonioli 《Human mutation》2003,22(4):341-341
In the original version of this article, the title was incorrect. Please find the correct title given here. The publisher deeply regrets this error. The original article to which this Erratum refers was published in Human Mutation 22:179–180 Human Mutation(2003) 22(2) 179–180 相似文献
74.
Malignant granular cell tumor of the lateral femoral cutaneous nerve: report of a case with cytogenetic analysis 总被引:5,自引:0,他引:5
Di Tommaso L Magrini E Consales A Poppi M Pasquinelli G Dorji T Benedetti G Baccarini P 《Human pathology》2002,33(12):1237-1240
Malignant granular cell tumors (MGCTs) are rare neoplasms of uncertain histogenesis. We report a case of MGCT involving a peripheral nerve with peritoneal and omental dissemination in which cytogenetic findings are available. Our results show that MGCTs share some cytogenetic abnormalities with malignant peripheral nerve sheath tumors (MPNSTs), supporting the hypothesis that they may represent histogenetically related lesions. 相似文献
75.
Magdy S. Aly Paola Dal Cin Herman Van Den Berghe Wim Van De Voorde Hein Van Poppel Filip Ameye Luc Baert 《Genes, chromosomes & cancer》1994,9(4):227-233
We combined conventional cytogenetic analysis and fluorescence in situ hybridization of short-term cultures of 28 samples from benign prostatic hyperplasia. Lou of the Y chromosome was the most common chromosome change, followed by trisomy 7. Trisomy 7, however, may be unrelated to the origin of benign prostate hyperplasia, in which the only and not very specific change seems to be the loss of the Y chromosome. Genes Chrom Cancer 9:227-233 (1594). © 1994 Wiley-Liss, Inc. 相似文献
76.
Paola Dal Cin Chris De Wolf-Peeters Magdy S. Aly Georges Deneffe Walter Van Mieghem Herman Van Den Berghe 《Genes, chromosomes & cancer》1993,6(4):243-244
Cytogenetic analysis of a thymoma showed the presence of a ring chromosome 6 as the sole chromosome abnormality. © 1993 Wiley-Liss, Inc. 相似文献
77.
Pagot E Fiedler S Cloetens P Bravin A Coan P Fezzaa K Baruchel J Härtwig J von Smitten K Leidenius M Karjalainen-Lindsberg ML Keyriläinen J 《Physics in medicine and biology》2005,50(4):709-724
Two x-ray phase contrast imaging techniques are compared in a quantitative way for future mammographic applications: diffraction enhanced imaging (DEI) and phase propagation imaging (PPI). DEI involves, downstream of the sample, an analyser crystal acting as an angular filter for x-rays refracted by the sample. PPI simply uses the propagation (Fresnel diffraction) of the monochromatic and partially coherent x-ray beam over large distances. The information given by the two techniques is assessed by theoretical simulations and compared at the level of the experimental results for different kinds of samples (phantoms and real tissues). The imaging parameters such as the energy, the angular position of the analyser crystal in the DEI case or the sample to detector distance in the PPI case were varied in order to optimize the image quality in terms of contrast, visibility and figure of merit. 相似文献
78.
Alessandro Antonelli Mario Rotondi Poupak Fallahi Paola Romagnani Silvia Martina Ferrari Ele Ferrannini Mario Serio 《Journal of interferon & cytokine research》2005,25(9):547-552
Circulating levels of cytokines are deeply influenced by aging, and few data about serum chemokines are available. The aim of this study was to evaluate the influence of aging on circulating CXCL10. One hundred forty healthy subjects (70 males and 70 females), 10-79 years of age, underwent fasting plasma glucose, total cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), triglyceride, and CXCL8 serum assay. Thyroid hormone testing for thyroid-stimulating hormone (TSH), antithyroglobulin (AbTg), and antithyroperoxidase (AbTPO) autoantibodies and thyroid ultrasonography were performed in all subjects to exclude the presence of clinical or subclinical thyroid disease. Serum CXCL10 levels were assayed in all subjects and found to be increased in 14 of 70 females (20%) and in 4 of 70 males (5.7%) (p = 0.01). In a multiple linear regression model including age, body mass index (BMI), systolic and diastolic blood pressure, glycemia, total cholesterol, HDL, LDL, triglycerides, TSH, AbTPO, AbTg, and CXCL8, only age was significantly related to CXCL10 [C.R. 1.30 (0.28-2.33), p = 0.001]. No relationship was present between CXCL8 serum levels and age, suggesting a specificity of CXCL10 elevation as a function of age. Results of this study, performed in healthy subjects on an age gradient, demonstrate an increase in serum CXCL10 with advancing age overall in females, supporting the hypothesis of enhanced Th1 immune responses in aging. 相似文献
79.
Lipid abnormalities in HIV-infected patients are not correlated with lopinavir plasma concentrations
80.
Ferdinando Nicoletti Roberto di Marcou Wilma Barcelliniu Gaetano Magro Hans U. Schorlemmeru Roland Kurrleu Michele Lunettau Sebastiano Grasso Paola Zacconeu Pierluigi Meronif 《European journal of immunology》1994,24(8):1843-1847
We have evaluated the effects of a treatment with soluble interleukin-1 receptor (sIL-1R) in the accelerated model of autoimmune diabetes induced by cyclophosphamide (CY) in the non-obese diabetic (NOD) mouse. Prior to the CY challenge (350 mg/kg body weight), female euglycemic NOD mice were randomly divided into three groups (A–C). Groups B and C were treated daily from 1 day before to 13 days after the CY challenge with sIL-1R at doses of 0.2 and 2 mg/kg body weight. Group A was treated with PBS. By 2 weeks after CY administration, an acute form of autoimmune diabetes with glycosuria, hyperglycemia and severe insulitis occurred in the majority (13/20, 65%) of the control mice (group A). In contrast, repeated injections with sIL-1R protected NOD mice from insulin-dependent diabetes mellitus (IDDM) development in a dose-dependent fashion; the incidence of IDDM was 53.3% (8/15) in the mice treated with 0.2 mg/kg and only 6.7% (1/15) in those treated with 2 mg/kg. However, none of the doses of the sIL-1R reduced the extent of insulitis in NOD mice. Importantly, the anti-diabetogenic property of sIL-1R may not involve major T cell function impairment; accordingly, in parallel experiments, splenic lymphoid cells from NOD mice not challenged with CY, but treated with 2 mg/kg sIL-1R for 5 consecutive days showed a normal distribution of mononuclear cell subsets and maintained their capacity to secrete interferon-γ and IL-2 and to proliferate in response to polyclonal mitogenic stimulation with concanavalin A. 相似文献