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排序方式: 共有376条查询结果,搜索用时 15 毫秒
1.
A Piperno M R Rivolta R D'Alba S Fargion F Rovelli A Ghezzi M Micheli G Fiorelli 《Journal of endocrinological investigation》1992,15(6):423-428
We studied endocrine functions at baseline and after TRH and LHRH stimulation in a group of 7 young male patients with genetic hemochromatosis (HE) without liver damage (i.e. fibrosis and cirrhosis). In five patients endocrine re-evaluations after complete iron depletion was also performed. Mean basal testosterone (T), FSH, LH and PRL were significantly lower than in controls. Serum T increased normally after HCG stimulation. The normal or high increments of LH after LHRH stimulation suggest that secretion capacity of LH was intact and that hypothalamic dysfunction could be responsible for the preclinical gonadal deficiency found in our patients. The response of PRL to TRH indicates that secretion capacity of lactotrophs although present, was decreased and did not improve after phlebotomy therapy. After iron depletion the two patients with the lowest basal T levels showed the highest increments indicating that in the early stages of hypothalamic-pituitary damage gonadal dysfunction is still reversible in HE patients. 相似文献
2.
Ensoli F Fiorelli V De Cristofaro M Muratori DS Novi A Isgrò A Aiuti F 《Archivum immunologiae et therapiae experimentalis》2000,48(4):259-266
Neurologic abnormalities are common in HIV-1 infected patients and often represent the dominant clinical manifestation of pediatric AIDS. Although the neurological dysfunction has been directly related to CNS invasion by HIV-1, the pathogenesis of neurologic disorders remains unclear. This review will first discuss the spectrum of potential interactions between HIV-1 and neural (neuronal and glial) cells, in the face of experimental data. Next, we will focus on the role of immune-derived cytokines and other soluble compounds which have been proposed to act as neurotoxic mediators and appear to play a role in the pathogenesis of AIDS-associated neurodegeneration. 相似文献
3.
M. Fiorelli D. Duboc S. Pappatà S. Tran-Dinh B. Eymard M. Fardeau 《Neuroradiology》1991,33(3):258-259
Summary Clinically apparent brain dysfunction is common in myotonic dystrophy. In a sample of fourteen adult patients with the definite form of this disease, brain magnetic resonance imaging detected frequent white matter abnormalities and ventriculomegaly. In addition, two patients exhibited an intracranial arachnoid cyst, a condition of neurosurgical interest that could be related to the generalized dysmaturational process present in this disease. Patients with myotonic dystrophy deserve a careful screening for brain involvement. Further MRI studies should ascertain the actual prevalence of brain anomalies in myotonic dystrophy and define the role of this procedure in the workup of this disease. 相似文献
4.
Alfonso Fiorelli Marina Accardo Giovanni Galluccio Mario Santini 《Archivos de bronconeumologia》2013,49(7):303-305
Amyloid deposition in tracheobronchial tree is a rare presentation and counts about 1% of benign tumors in this area. Herein, we describe a case of primary tracheobronchial amyloidosis which obstructed almost completely the distal trachea and the main left bronchus.The mass was successfully resected by mechanical resection and Nd-YAG laser coagulation during rigid bronchoscopy. Afterwards, a self-expanding Y-stent of new generation was inserted to restore airway patency. Five months later, radiological and bronchoscopic findings showed the stent in site, with normal patency of the tracheo-bronchial tree. 相似文献
5.
Cappellini MD Robbiolo L Bottasso BM Coppola R Fiorelli G Mannucci AP 《British journal of haematology》2000,111(2):467-473
Thromboembolic phenomena have been described in patients with thalassaemia intermedia and major, although there are relatively few epidemiological data on the overall frequency of these complications. To obtain more insight into the risk and mechanism of venous thromboembolism in thalassaemia, the aims of this study were: (i) to establish retrospectively the prevalence of thromboembolic events in a large group of adults with thalassaemia intermedia and major during a follow up period of 10 years; (ii) to measure in subgroups of these patients sensitive markers of activation of coagulation and fibrinolysis enzymes; and (iii) to look for possible procoagulant mechanisms. A high prevalence of thromboembolic events was found, particularly in splenectomized patients with thalassaemia intermedia (29%). These patients had high plasma levels of markers of coagulation and fibrinolysis activation. Furthermore, thalassaemic red cells and erythroid precursors from splenectomized patients with thalassaemia intermedia had an enhanced capacity to generate thrombin. To evaluate the role of splenectomy per se on procoagulant activity, we evaluated the capacity to form thrombin in healthy individuals who had been splenectomized for trauma. They produced the same amount of thrombin as non-splenectomized controls. In conclusion, the results of this study show the existence of a hypercoagulable state in splenectomized patients with thalassaemia intermedia and that their red and erythroid cells are capable of acting as activated platelets in thrombin generation. 相似文献
6.
S. L. Thein J. S. Wainscoat M. Sampietro J. M. Old D. Cappellini G. Fiorelli B. Modell D. J. Weatherall 《British journal of haematology》1987,65(3):367-373
We have identified 14 Asian patients with homozygous beta zero thalassaemia who had a mild clinical disorder related to an augmented production of haemoglobin F. None of their parents had an elevated level of Hb F. Restriction fragment length polymorphism analysis of the beta-globin cluster of these patients and a control group of Asian thalassaemia major patients showed that 6/14 of the thalassaemia intermedia patients were homozygous for a particular 5' beta-globin haplotype (-+-++), in contrast to 1/42 of the thalassaemia major patients. Furthermore, the -+-++ beta haplotype is also associated with amelioration of disease severity in beta thalassaemia in an Italian population. This beta haplotype is linked to a DNA sequence variation 5' (at position -158) to the G gamma globin gene which can be detected by the presence (+) of an Xmn I restriction enzyme site. The possible role of the Xmn I-gamma polymorphism in relation to this variant HPFH is discussed. We conclude that much of the observed clinical variability of beta thalassaemia can now be explained by the inheritance of beta thalassaemia chromosomes with different propensities for fetal haemoglobin production. 相似文献
7.
Slonimsky Einat Upham Kent Pepley Sarah Ouyang Tao King Tonya Fiorelli Marco Thamburaj Krishnamoorthy 《Emergency radiology》2022,29(3):427-435
Emergency Radiology - In subarachnoid hemorrhage, noncontrast CT features are used to guide the localization of ruptured aneurysms on CT angiography and DSA. Multiplanar CT may improve the... 相似文献
8.
9.
J. S. Wainscoat S. Work M. Sampietro M. D. Cappellini G. Fiorelli S. Terzoli † D. J. Weatherall 《British journal of haematology》1986,62(3):495-500
A feasibility study of prenatal diagnosis of beta thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous beta thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava II psi beta polymorphism increased this figure to 23/25 (92%) of the families. 相似文献