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11.
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
12.
Sandrucci MA Nicolin V Forabosco A Narducci P Bareggi R Grill V 《Italian journal of anatomy and embryology = Archivio italiano di anatomia ed embriologia》2002,107(1):57-70
Three human fetuses (crown-rump length, CRL, ranging from 71 to 77 mm), presenting bilateral cervical cystic hygroma were examined. The specimens were cleared and double-stained with alcian blue and alizarin red S for detecting the ossification growth patterns in the vertebral column, ribs, ischium, limbs, and face. Longitudinal measurements of some long bones in the upper (humerus, ulna, radius) and lower (femur, tibia, fibula) limb were taken. The values of both the total length (TL) and the ossified part (OL) of each long bone, as well as the OL/TL per cent ratio were considered. Reference points were located on the mandible, i.e. condylar process (Pcl), coronoid process (Pco), gnathion (GN), gonion (GO), inferior interdental point (IDI) for measuring linear dimensions. All values obtained were related with those relative to a group of fetuses, without any detectable malformation and chromosomal abnormalities, with CRL mean value 75 mm, in order to assess the presence of further anomalies, besides the cystic hygroma, in the three fetuses considered. 相似文献
13.
Ricciardolo FL Caramori G Ito K Capelli A Brun P Abatangelo G Papi A Chung KF Adcock I Barnes PJ Donner CF Rossi A Di Stefano A 《The Journal of allergy and clinical immunology》2005,116(5):1028-1035
BACKGROUND: Reactive nitrogen species, formed via the reaction of nitric oxide (NO) with superoxide anion and via (myelo)peroxidase-dependent oxidation of NO(2)(-), have potent proinflammatory and oxidizing actions. Reactive nitrogen species formation and nitrosative stress are potentially involved in chronic obstructive pulmonary disease (COPD) pathogenesis. OBJECTIVES: To investigate the expression of markers of nitrosative stress, including nitrotyrosine (NT), inducible NO synthase (iNOS), endothelial NO synthase (eNOS), myeloperoxidase (MPO), and xanthine oxidase (XO) in bronchial biopsies and bronchoalveolar lavage from patients with mild to severe stable COPD compared with control groups (smokers with normal lung function and nonsmokers). METHODS: The expression of NT, iNOS, eNOS, MPO and XO in the bronchial mucosa and bronchoalveolar lavage of patients was measured by using immunohistochemistry, Western blotting, and ELISA and correlated with the inflammatory cell profile. RESULTS: Patients with severe COPD in stable phase had higher numbers of NT(+) and MPO(+) cells in their bronchial submucosa compared with mild/moderate COPD, smokers with normal lung function, and nonsmokers (P < .01). iNOS(+) and eNOS(+) but not XO(+) cells were significantly increased in smokers with COPD or normal lung function compared with nonsmokers (P < .05 and P < .01, respectively). In patients with COPD, the number of MPO(+) cells was significantly correlated with the number of neutrophils (r = +0.61; P < .0025) in the bronchial submucosa. Furthermore, the number of NT(+) and MPO(+) cells was negatively correlated with postbronchodilator FEV(1). CONCLUSION: These data suggest that nitrosative stress, mainly mediated by MPO and neutrophilic inflammation, may contribute to the pathogenesis of severe COPD. 相似文献
14.
Mazzanti L Cacciari E Cicognani A Bergamaschi R Scarano E Forabosco A 《American journal of medical genetics. Part A》2003,(3):279-286
We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair". 相似文献
15.
Annunziata Gloghini Antonino Carbone 《Virchows Archiv : an international journal of pathology》1990,416(3):197-204
Summary We performed a comparative immunohisto-cytochemical study of the distribution patterns of laminin and follicular dendritic reticulum cells (DRCs) within their follicular microenvironment in both nodular or diffuse B-cell non Hodgkin's lymphomas (NHLs). Twenty nine cases of immunophenotypically diagnosed B-cell NHLs (19 of follicular center cell origin-FCCL- and 10 of the diffuse well differentiated lymphocytic type-WDLL-) and five reactive lymph nodes with follicular hyperplasia were analyzed by immunoperoxidase and immunofluorescence techniques. Serial frozen sections and cytospin preparations were tested either with single antibodies anti laminin and DRC-1, or paired reagents in double labeling immunofluorescence. Our results indicated consistently that within both the reactive germinal centers and the neoplastic nodules of FCCL laminin immunostaining visualized a punctate-granular pattern apart from the linear vascular basement membrane positivity. Double immunofluorescence assay demonstrated that there was a close parallelism between this laminin staining pattern and DRC-1 distribution showing a well developed DRCs meshwork; in the diffuse tumour areas of both FCCL and WDLL, laminin immunoreactivity was found only in those cases in which nests of DRCs were observed. Double immunofluorescence studies performed on cytospin preparations demonstrated that the groups of cells containing DRC-1 positive cells, contained a positivity for laminin, although within the cell the staining for DRC-1 was intense and diffuse, while that for laminin was granular and more sparse. Our results suggested that these laminin and DRC-1 positive reactive sites may be present on the same cells. Since the reduction in number or loss of both DRCs and their related immunostaining for laminin within the microenvironment was consistently associated with a loss of nodularity by lymphoma cells, whereas nodularity in reactive and neoplastic conditions was associated with a rich DRCs meshwork and the related laminin immunostaining, a trapping function of DRCs exercised in the presence of laminin should be considered.This work was supported in part by a Grant N 87.02799.44 from the Consiglio Nazionale delle Ricerche, Progetto Finalizzato Oncologia, Rome, and by the Associazione Italiana per la Ricerca sul Cancro, Milan, Italy 相似文献
16.
Heterogeneous pattern of chromosomal breakpoints involving the MYC locus in multiple myeloma 总被引:2,自引:0,他引:2
Fabris S Storlazzi CT Baldini L Nobili L Lombardi L Maiolo AT Rocchi M Neri A 《Genes, chromosomes & cancer》2003,37(3):261-269
Chromosomal rearrangements of the MYC locus, which often involve the IG loci, are recurrent events in multiple myeloma (MM) and plasma cell leukemia (PCL). We used dual-color fluorescence in situ hybridization (FISH) to characterize the breakpoint locations of chromosomal translocations/rearrangements involving the MYC locus at 8q24 found in a panel of 14 MM cell lines and 70 primary tumors (66 MM and 4 PCL). MYC locus alterations were observed in 21 cases: MYC/IG (mainly IGH@) fusions in 11 cell lines and three patients (2 MM and 1 PCL), and extra signals and/or abnormal MYC localizations in seven patients (5 MM and 2 PCL). Fourteen of these cases were investigated by FISH analyses by use of a panel of BAC clones covering about 6 Mb encompassing the MYC locus. The breakpoints were localized in a region 100-250 kb centromeric to MYC in four cases, a region 500-800 kb telomeric to the gene in four cases, and regions > or = 2 Mb centromeric or telomeric to MYC in five cases. Two different breakpoints were detected in the KMS-18 cell line, whereas the insertion of a MYC allele was found in a complex t(16;22) chromosomal translocation in the RPMI8226 cell line. Our data document a relatively high dispersion of 8q24 breakpoints in MM. 相似文献
17.
Simone Baldi Marta Menicatti Giulia Nannini Elena Niccolai Edda Russo Federica Ricci Marco Pallecchi Francesca Romano Matteo Pedone Giovanni Poli Daniela Renzi Antonio Taddei Antonino S. Calabr Francesco C. Stingo Gianluca Bartolucci Amedeo Amedei 《Nutrients》2021,13(3)
Altered circulating levels of free fatty acids (FFAs), namely short chain fatty acids (SCFAs), medium chain fatty acids (MCFAs), and long chain fatty acids (LCFAs), are associated with metabolic, gastrointestinal, and malignant diseases. Hence, we compared the serum FFA profile of patients with celiac disease (CD), adenomatous polyposis (AP), and colorectal cancer (CRC) to healthy controls (HC). We enrolled 44 patients (19 CRC, 9 AP, 16 CD) and 16 HC. We performed a quantitative FFA evaluation with the gas chromatography–mass spectrometry method (GC–MS), and we performed Dirichlet-multinomial regression in order to highlight disease-specific FFA signature. HC showed a different composition of FFAs than CRC, AP, and CD patients. Furthermore, the partial least squares discriminant analysis (PLS-DA) confirmed perfect overlap between the CRC and AP patients and separation of HC from the diseased groups. The Dirichlet-multinomial regression identified only strong positive association between CD and butyric acid. Moreover, CD patients showed significant interactions with age, BMI, and gender. In addition, among patients with the same age and BMI, being male compared to being female implies a decrease of the CD effect on the (log) prevalence of butyric acid in FFA composition. Our data support GC–MS as a suitable method for the concurrent analysis of circulating SCFAs, MCFAs, and LCFAs in different gastrointestinal diseases. Furthermore, and notably, we suggest for the first time that butyric acid could represent a potential biomarker for CD screening. 相似文献
18.
19.
Monica Campagnol M.D. Paolo Sapienza M.D. Filippo Napoli M.D. Mario Dauri M.D. Antonino Cavallaro M.D. F.A.C.S. F.I.C.A. 《The International journal of angiology》1995,4(4):193-197
Cultured, allogenic, human epidermal grafts have been successfully used to treat extensive burns, donor sites, leg ulcers, and eroded areas in recessive dystrophic epidermolysis bullosa. The following report describes the use of cryopreserved cultured human epidermal allografts in the treatment of long-standing ischemic ulcers unresponsive to conventional medical therapy in two patients who had previously undergone unsuccessful vascular reconstructive surgery. A marked reduction in ulcer size as well as rapid pain relief was achieved in both patients. In selected cases the use of epidermal grafts as a biologic topical therapy could represent an alternative to other medical treatments. However, thus far, only a few cases have been reported and the uncertain short- and long-term results as well as the excessive costs may limit the widespread application of this treatment modality. 相似文献
20.
Antonino Salvaggio 《European journal of epidemiology》1995,11(2):127-131
We present a model to estimate the infection curve of the human immunodeficiency virus in intravenous drug users in Lombardia. We based estimates on AIDS incidence data, according to a backcalculation model accounting for therapy and changes in the surveillance definition of AIDS. 相似文献