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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.
C Brunati A Piperno C Guastoni M L Perrino G Civati U Teatini A Perego G Fiorelli L Minetti 《Nephron》1990,54(3):219-223
Serum ferritin (SF) and erythrocyte ferritin (EF) were evaluated in 35 patients on chronic hemodialysis treatment (CHD), in 45 healthy subjects and in 22 nonnephropathic females with iron deficiency anemia. Twenty-five CHD patients with basal SF less than 500 micrograms/l were treated orally with 200 mg of Fe2+ for 2 months and the positive (hemoglobin increase greater than 1 g/dl) or negative response to the therapy was correlated to the basal levels of SF and EF. Three groups of CHD patients could be defined on the basis of their basal SF levels (hypo-, normo- or hyperferritinemic). Nine patients with increased SF levels had also EF levels significantly higher than the other CHD patients and controls since they were probably iron-overloaded. In the other 2 groups of CHD patients, EF levels were significantly higher than in controls for each level of SF probably because of the reduced utilization of iron by uremic bone marrow. Among the 25 treated CHD patients, only 5 responded to the therapy: 3 were hypoferritinemic while the other 2 responders had basal SF within the normal range. Four hypoferritinemic patients did not respond to the therapy. Four out of five responders had the lowest EF levels among CHD patients. EF measurement could be an important and useful test in detecting the presence of an iron deficiency erythropoiesis in CHD patients. 相似文献
3.
Chronic liver disease in transfusion-dependent thalassaemia: hepatitis B virus marker studies. 总被引:1,自引:0,他引:1 下载免费PDF全文
S De Virgiliis G Fiorelli S Fargion G Cornacchia G Sanna P Cossu V Murgia A Cao 《Journal of clinical pathology》1980,33(10):949-953
The systematic screening of 253 children with transfusion-dependent homozygous beta-thalassaemia revealed a high incidence of hepatitis B virus markers. The highest frequencies of hepatitis B surface antigen (HBsAg) and antibody to hepatitis B core antigen (anti-HBc) were found in the group of patients with the smallest number of transfusions, while the highest frequency of antibody to hepatitis B surface antigen (anti-HBs) was detected in the patients who had had the largest number of transfusions. Follow-up of these patients showed (a) a high incidence of acute hepatitis B, which was mainly subclinical; (b) normal hepatitis B surface antigen clearance and normal antibody to hepatitis B surface development; and (c) a high frequency of increased transaminase values for over six months. In all the subjects with persistently high transaminase, histological examination revealed chronic persistent hepatitis or chronic active hepatitis. Apart from two cases of chronic active hepatitis with no B virus markers, and two cases of chronic persistent hepatitis with HBsAg and anti-HBc in the serum, all these subjects were anti-HBs positive but HGsAg and anti-HBc negative. 相似文献
4.
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
5.
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
6.
Francesco Paolo Caronia Alfonso Fiorelli Mario Santini Sergio Castorina 《General thoracic and cardiovascular surgery》2016,64(10):625-628
Persistent tracheal fistula after tracheostomy decannulation is a recognized sequel to long-term tracheostomy use, causing important morbidity including difficult to vocalization and control of air secretions, recurrent pulmonary infections, and cosmetic and social problems. Herein, we reported a new method for closure of persistent tracheocutaneous fistula with rib cartilages. Compared to other techniques previously reported, the variations of our strategy were the use of temporary metal-covered tracheal stent and the hinged turnover skin bi-flaps reinforced with rib cartilage grafts. Rib cartilages were useful in order to reconstruct the trachea and prevent stenosis. Since it become difficult to obtain the maintenance of the trachea stability until healing of suture was well established, a covered metallic stent was also inserted to avoid flap collapse. The stent was removed 3 months later. Six months follow-up showed normal tracheal patency. 相似文献
7.
Alfonso Fiorelli Saveria Costanzo Emanuele Carelli Emilio Di Costanzo Mario Santini 《General thoracic and cardiovascular surgery》2016,64(4):234-238
We reported a case series including 5 patients with persistent air-leaks refractory to standard treatment. All patients were unfit for surgery for the presence of co-morbidities and/or severe respiratory failure due to underlying lung diseases. They were successfully treated with bronchoscopic placement of endobronchial one-way valves. Air-leaks stopped in the first 24 h after the procedure in three patients and 3 and 5 days later, respectively, in the remaining two. No complications were observed and follow-up was uneventful in all patients but one died 25 days after the procedure for systemic sepsis due to peritonis. Patients with important, refractory air leaks having clinical repercussions and unfit for surgery should be early reviewed for bronchoscopic valves treatment. 相似文献
8.
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
9.
Maria Domenica Cappellini Maurizio Sampietro Daniela TonioloGiovanni Carandina Salvatore Pittalis Franco Martinez di Montemuros Dario Tavazzi Gemino Fiorelli 《British journal of haematology》1994,87(1):209-211
Summary. A new glucose-6-phosphate dehydrogenase variant detected in an Italian man from the Po delata is described and designated as G6PD Modena. Biochemical characterization of the variant enzyme revealed an activity 21% of normal, a slow electrophoretic mobility, increased Km value for NADP, decreased Km value for G6P and a complete absence of NADPH inhibition, which could account for the apparently nonhaemolytic feature of this variant. The cloning and sequencing of the G6PD Modena allele showed a GC transition at nucleotide 844 in exon VIII causing a Asp His amino acid substitution. On the basis of biochemical characterization, G6PD Modena is classified as a genuine variant but it has the same mutation as G6PD Seattle-like. 相似文献
10.
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