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31.
Paolo Ambrosetto Stefano Zucchini Alessandro Cicognani Emanuele Cacciari 《Pediatric radiology》1998,28(5):288-289
A girl with Diamond-Blackfan syndrome and hypopituitarism was suspected of having pituitary haemosiderosis because of the
clinical picture and the long history of blood transfusions. On T1-weighted MR images the pituitary exhibited a markedly hypointense
anterior lobe (mimicking the empty sella), suggesting iron deposition, while on T2W MRI the low signal of the pituitary was
surrounded by the high signal of the CSF. MR may be considered the examination of choice for detecting iron overload in the
pituitary.
Received: 10 November 1997 Accepted: 21 November 1997 相似文献
32.
Emanuele Lezoche M.D. Alessandro M. Paganini M.D. Ph.D. Francesco Carlei M.D. Francesco Feliciotti M.D. Davide Lomanto M.D. Ph.D. Mario Guerrieri M.D. 《World journal of surgery》1996,20(5):535-542
n
= 2), port site infection (
n
= 2), and subumbilical hematoma (
n
= 1). Major morbidity was bile leakage from the cystic duct stump in two cases due to clips or transcystic duct drainage displacement,
respectively. One elderly, high risk patient died after being referred for several failed attempts of endoscopic clearance;
she died from cardiogenic shock 3 days after successful laparoscopic treatment. Laparoscopic CBD exploration is feasible and
safe in most patients, with short-term results that compare favorably with the results of sequential ES/LC reported in the
literature. 相似文献
33.
Laura Santambrogio Maria Lipartiti Alessandro Bruni Roberto Dal Toso 《Journal of neuroimmunology》1993,45(1-2)
The presence of functional dopamine receptors on differentiated cells of the mammalian immune system is still under discussion. This study has utilized (-)-[3H]sulpride as a ligand to detect the presence of recognition sites of the dopamine D2 receptor family on human T- and B-lymphocytes. The (-)-[3H]sulpiride binding was of high affinity (Kd 0.9 nM ± 0.2 nM, specific, saturable (Bmax 10.2 ± 1.4 fmol/106 cells) and reversible. The pharmacological characterization of the recognition site suggests, similarities mainly with the D2 and D4 rather than D3 subtype of dopamine receptor. Furthermore, dopamine treatment was able to reduce the intracellular cAMP levels of lymphocytes stimulated with forskolin, thus suggesting a potential functional significance of this dopamine receptor in mediating neural-immune interactions. 相似文献
34.
35.
Prevalence of hereditary ataxias and spastic paraplegias in Molise,a region of Italy 总被引:8,自引:0,他引:8
Alessandro Filla Giuseppe De Michele Roberto Marconi Luigi Bucci Carmine Carillo Anna Elisa Castellano Lucio Iorio Claudio Kniahynicki Francesco Rossi Giuseppe Campanella 《Journal of neurology》1992,239(6):351-353
Summary An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10–5 inhabitants (95% confidence limits 4.8–11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia. 相似文献
36.
Testa Rodolfo Abbiati Gianalfredo Ceserani Roberto Restelli Gianvico Vanasia Alessandro Barone Domenico Gobbi Marco Mennini Tiziana 《Pharmaceutical research》1989,6(7):571-577
A series of 21 neuroleptics with different chemical structures (phenothiazines, thioxanthenes, dibenzodiazepines, butyrophenones, benzamides, etc.) was examined for their in vitro interactions with 12 neurotransmitter binding sites in the rat brain (alpha- and beta-noradrenergic, dopaminergic, muscarinic, serotoninergic, histaminic, and opioid receptors, calcium channels, and serotonin uptake binding sites). The biochemical profile obtained from the binding data was compared with reported pharmacological and clinical profiles for this class of compounds by cluster analysis. Cluster analysis on binding data classified the compounds in three main subgroups: benzamides, compounds with an affinity mainly for DA2 and 5-HT2 receptors and inactive at muscarinic receptors, and compounds with a high affinity for alpha 1-adrenergic receptors and muscarinic receptors. The main subgroups resulting from cluster analysis of previously published pharmacological and clinical data for neuroleptics contain compounds common to the present study, with some correlations. The results extend previous observations that a complete binding profile corresponds to the pharmacological and clinical profile of this class of compounds. 相似文献
37.
Environmental enrichment potentiates neural plasticity, enhancing acquisition and consolidation of memory traces. In the sensory cortices, after cortical circuit maturation and sensory function acquisition are completed, neural plasticity declines and the critical period 'closes'. In the visual cortex, this process can be prevented by dark-rearing, and here we show that environmental enrichment can promote physiological maturation and consolidation of visual cortical connections in dark-reared rats, leading to critical period closure. 相似文献
38.
Alessandro Daniotti Gaetano Povolo Agata Barchitta Aierken Abudureheman Paolo Cardaioli Cristina Basso 《Cardiovascular pathology》2004,13(6):330-333
A 51-year-old woman suffered rapidly irreversible cardiogenic shock with left hemiparesis. Transesophageal echocardiography, which represents an essential imaging tool in the emergency room, ruled out aortic dissection involving branch vessels but did not allow an in vivo diagnosis of spontaneous coronary dissection. The in vivo diagnosis of spontaneous coronary dissection is rather difficult because of the dramatic clinical presentation and selective coronary angiography requirement. 相似文献
39.
Lorenzo Moretta Maria Cristina Mingari Daniela Pende Cristina Bottino Roberto Biassoni Alessandro Moretta 《Journal of clinical immunology》1996,16(5):243-253
Natural Killer cells are likely to play an important role in the host defenses because they kill virally infected or tumor cells but spare normal self-cells. The molecular mechanism that explains why NK cells do not kill indiscriminately has recently been elucidated. It is due to several specialized receptors that recognize major histocompatibility complex (MHC) class I molecules expressed on normal cells. The lack of expression of one or more HLA class I alleles leads to NK-mediated target cell lysis. Different types of receptors specific for groups of HLA-C, HLA-B, and, very recently, HLA-A alleles have been identified. While in most instances, they function as inhibitory receptors, an activatory form of the HLA-C-specific receptors has been identified in some donors. Molecular cloning of HLA-C-, HLA-B- or HLA-A-specific receptors has revealed new members of the immunoglobulin superfamily with two or three Ig-like domains, respectively, in their extracellular portion. While the inhibitory form is characterized by a long cytoplasmic tail associated with a non-polar transmembrane portion, the activatory one has a short tail asociated with a Lys-containing transmembrane portion. Thus, these human NK receptors are different from the murine Ly49, that is a type II transmembrane protein characterized by a C-type lectin domain. A subset of activated T lymphocytes expresses NK-type class I-specific receptors. These receptors exert an inhibiting activity on T cell receptor-mediated functions and may provide an important mechanism of downregulation of T cell responses. 相似文献
40.
Ferraris A Rappaport E Santacroce R Pollak E Krantz I Toth S Lysholm F Margaglione M Restagno G Dallapiccola B Surrey S Fortina P 《Human mutation》2002,20(4):312-320
Hereditary hearing loss (HHL) is one of the most common congenital disorders and is highly heterogeneous. Mutations in the connexin 26 (CX26) gene (GJB2) account for about 20% of all cases of childhood deafness, and approach 50% in documented recessive cases of non-syndromic hearing loss. In addition, a single mitochondrial DNA mutation, mt1555A>G, in the 12S rRNA gene (MTRNR1), is associated with familial cases of progressive deafness. Effective screening of populations for HHL necessitates rapid assessment of several of these potential mutation sites. Pyrosequencing links a DNA synthesis protocol for determining sequence to an enzyme cascade that generates light whenever pyrophosphate is released during primer strand elongation. We assessed the ability of Pyrosequencing to detect common mutations causing HHL. Detection of the most common CX26 mutations in individuals of Caucasian (35delG), Ashkenazi (167delT), and Asian (235delC, V37I) descent was confirmed by Pyrosequencing. A total of 41 different mutations in the CX26 gene and the mitochondrial mt1555A>G mutation were confirmed. Genotyping of up to six different adjacent mutations was achieved, including simultaneous detection of 35delG and 167delT. Accurate and reproducible results were achieved taking advantage of assay flexibility and experimental conditions easily optimized for a high degree of standardization and cost-effectiveness. The standardized sample preparation steps, including target amplification by PCR and preparation of single-stranded template combined with automated sequence reaction and automated genotype scoring, positions this approach as a potentially high throughput platform for SNP/mutation genotyping in a clinical laboratory setting. . 相似文献