[Case of otocraniofacial and vertebral malformation syndrome. The postnatal evolution of congenital vertebral blocks].
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Abnormalities, Multiple↗
Biomedical subjects
G Leone
Publications and source records attributed to G Leone.
[Clinical and etiopathogenetic significance of the histological findings of portal fibrosis].
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Adult↗
Platelet antibody determination by platelet factor 3 assay (comparison with radiolabelled serotonin release and platelet aggregometry).
Platelet antibody determination by the PF3 test was carried out in 96 thrombocytopenic patients with various disorders, 31 repeatedly transfused patients with or without thrombocytopenia and 24 patients with autoimmune disease (SLE and myasthenia gravis) without thrombocytopenia. The frequency of a positive test was greatest in the patients with ITP (61%), SLE (50%) or a history of numerous blood transfusions (60%). The patients with myasthenia gravis also showed a considerable frequency (20%) of platelet antibodies detectable by the PF3 test. The PF3 test is less sensitive than the serotonin release test in detecting autoantibodies, but it is more sensitive than aggregometry in detecting isoantibodies and drug-related antibodies.
Autoantibodies↗
[Psychosocial aspects of burnout].
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Burnout, Professional↗
[The Campodimele study: 24-hour blood pressure in rural life style subjects].
The present paper is aimed at investigating the daily blood pressure in subjects with a rural style of life with the purpose of detecting whether or not the blood pressure regimen is influenced as expected because of the stress less prominent in the non-urban areas. Control data were obtained by the study of age- and sex-matching subjects with a metropolitan style of life. The results indicate the blood pressure has a lower daily level in rural subjects as compared to urban subjects. The daily baric impact is also lower, suggesting that the blood pressure regimen is really less pronounced in those who live according to a rural style of life. Such a lower magnitude allows us to experimentally suggest that the rural life is concrete in protecting the hemodynamic system from the higher level of blood pressure which are observable in subjects who live according to a metropolitan style of life. Interestingly, the expected phase anticipation in blood pressure circadian rhythm of rural subjects was not detected, as the wake up time was not so anticipated to act as a synchronizer.
Adult↗
Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.
Inherited resistance to activated protein C (APC) was recently recognized as a novel cause underlying venous thrombophilia. In most cases APC-resistance is due to a single point mutation in the factor V gene leading to a replacement of Arg506 with Gln (factor V Leiden). Amino acid substitution occurs at one of the APC cleavage sites of factor Va, rendering it resistant to APC inactivation. Plasma anticoagulant response to exogenous APC as a simple diagnostic assay of APC- resistance shows good sensitivity and specificity as compared to gene analysis, yet standardization of the results needs to be improved. The APC-resistance trait is present in 2%-6% of the general population and was found to be associated with venous thrombophilia in about 20% of patients with unexplained thrombosis. Clinical features are substantially similar to other congenital plasma abnormalities predisposing to thrombosis (antithrombin III, protein C, protein S deficiencies); yet the overall clinical penetrance of the defect seems lower, at least for the heterozygous condition. Preliminary data suggest a higher risk of thrombosis in APC-resistant homozygous individuals or in patients exhibiting APC-resistance together with other thrombophilic genetic defects. To date, genetically determined APC-resistance does not seem to play a significant role in the development of arterial thrombotic disease.
Adult↗
[Warm ischemia in kidney from non-heart beating donor . Instrumental evaluation].
A dramatic shortage of kidneys available for transplantation, due do the widespread reduction in consent, has urged us to explore alternative sources of kidney harvesting, in the attempt to reduce the current gap between the small number of donations and the large number of patients on waiting-list. We set our attention on non-heart-beating donors (NHBD). In the "first step" of our research, we tested an experimental technique, by using commercial pigs' kidneys, that has been useful to determinate the maximum warm ischemic time that a kidney of NHBD could tolerate. Parameters of this research were the resistance of the kidney in perfusion machine and the renal scintigraphy. Our results permitted to establish that the maximum warm ischemic time that a kidney of NHBD could tolerate, is 50 minutes (p > 0.001). This experimental technique could be employed to remove every doubt about the effective condition of NHBD kidney before the transplant, in the outlook, by using those kidneys, to reduce the organ shortage.
Animals↗
Salvage chemotherapy with pentostatin in prolymphocytic leukemia.
We report 4 cases of prolymphocytic leukemia (PLL) resistant to conventional chemotherapy that were treated with pentostatin. We obtained 1 complete remission (CR) and 2 partial remissions (PR). Our data confirm the effectiveness of this drug in the treatment of prolymphocytic leukemia.
Aged↗
Extramedullary relapse after allogeneic bone marrow transplantation plus buffy-coat in two high risk patients.
In order to obtain an additional graft versus leukemia effect (GVL) and rapid engraftment, donor leukocyte infusion (DLI) was added to unseparated, sex-mismatched allogeneic bone marrow transplantation in two male patients (age 21, 26) affected by high risk hematological malignancies (refractory T-ALL, refractory B-LBL in leukemic phase). Graft versus host disease (GVHD) prophylaxis consisted of methotrexate (MTX) alone. DLI were obtained after G-CSF 16 ug/kg/day sc. A total of 2.36 and 5.8 x 10(6)/kg MNC, 5.4 and 11 x 10(6)/kg CD34+ cells, 1.3 and 1.3 x 10(6)/kg CD3+ lymphocytes, respectively, were infused. Hemopoietic recovery occurred promptly. Complete chimerism was detected by cytogenetic examination. One patient developed an extramedullary relapse that first involved the cranial nerves, and then the testes, soft tissue and skin; the other patient developed central nervous system disease and then bilateral paravertebral masses with progressive paraplegia. Despite complete medullary remission with normal female karyotype, both patients died from extramedullary progression of their disease. Our observation shows that, at least in high risk patients, no additional GVHD or GVL effect was evident after donor leukocyte infusion. Extramedullary relapse was not prevented despite good control of medullary disease.
Adult↗
Return to normal values of lipid pattern after effective chemotherapy in acute lymphoblastic leukemia.
In the present work we investigated HDL-C and its subfractions HDL2 and HDL3 as well as total cholesterol (TC), triglycerides (TG), LDL-C, VLDL-C, apolipoproteins A1 (ApoA1) and B (ApoB) and lipoprotein (a) (Lp(a) in 25 patients with newly diagnosed acute lymphocytic leukemia (ALL) before and after induction treatment. The mean basal plasma levels of TC, HDL-C and its subfractions, LDL-C, and ApoA1 were significantly lower than the mean values observed in normal subjects, whereas TG and VLDL-C were significantly higher. The patients (n = 22) who achieved complete remission after chemotherapy showed a significant increase of TC, HDL-C, HDL2, HDL3, ApoA1 and a significant decrease of TG and VLDL-C. These data suggest that ALL patients are characterized by a lipid metabolic derangement mainly of HDL and TG-rich lipoproteins, that is reversed by effective treatment of disease.
Adolescent↗
Telomerase activity in human hematopoietic progenitor cells.
BACKGROUND AND OBJECTIVE: Telomerase is the enzyme that stabilizes and elongates the telomeric ends of chromosomes. It is expressed in germline and malignant cells and absent in most human somatic cells. The selective expression of telomerase has thus been proposed to be a basis for the immortality of germline and malignant cells. Recently, telomerase activity has been observed in human bone marrow (BM) and peripheral blood (PB) samples. The objective of our study was to further characterize the telomerase-expressing population in BM and PB. METHODS: CD34+ cells were isolated from BM and PB, cultured in vitro, and telomerase activity was assessed by the PCR-based TRAP assay. RESULTS: Telomerase activity in human BM and PB could be almost exclusively assigned to the hematopoietic progenitor cell fraction expressing the CD34 antigen. We observed telomerase activity in CD34+ cells from BM and cytokine-mobilized PB. CD34+ cells lacking co-expression of CD33 demonstrated higher levels of telomerase than myeloid committed CD34+/CD33+ cells. In vitro culture of CD34+ cells in the presence of a cocktail of growth factors inducing differentiation resulted in a decrease of telomerase activity. Telomerase activity increased in peripheral blood during cytokine-induced mobilization of hematopoietic progenitor cells. INTERPRETATION AND CONCLUSIONS: Our data demonstrate that at least a portion of the hematopoietic stem/progenitor cell fraction expresses telomerase and downregulates its expression through differentiation.
Antigens, CD34↗
Granulocyte colony-stimulating factor-primed leukocyte transfusions in candida tropicalis fungemia in neutropenic patients.
Optimal management of fungemia in neutropenic patients is still controversial. Several reports have already stressed the poor prognosis in invasive candidiasis (80% mortality in several reports). Therefore granulocyte transfusions would appear to be useful in the management of these infections. We report the use of rhG-CSF-primed granulocyte transfusions plus amphotericin B in two neutropenic patients who developed life-threatening systemic fungal infections. This approach was successful and both patients fully recovered from the infection.
Acute Disease↗
Bacteremia in patients with hematological malignancies. Analysis of risk factors, etiological agents and prognostic indicators.
BACKGROUND AND OBJECTIVE: Patients with hematological malignancies are at increased risk for developing bacteremia. No previous study has investigated the risk and prognostic indicators of bacteremia in such patients using a statistical approach. METHODS: A case-control study was performed in 106 patients with hematological malignancies (group A). Two hundred and twelve patients were included as controls and divided into two groups: 106 patients with hematological malignancy without bacteremia (group B) and 106 HIV-infected patients with bacteremia (group C). RESULTS: At univariate analysis, bacteremia risk factors in group A were: neutropenia for more than six days (p = 0.03 vs. group B), central venous catheter usage (p = 0.04) and absence of antibiotic prophylaxis (p = 0.03). At multivariate analysis, the use of CVC and neutropenia were independent bacteremia risk factors. The most frequent etiological agents were: Staphylococcus epidermidis and Pseudomonas aeruginosa. Comparing groups A and C, the distribution of Staphylococcus spp. was different, with S. epidermidis being prevalent in hematological patients only. As regards gram-negative organisms, it is of note that no episode of NT-Salmonella bacteremia was observed in group A, unlike group C, where they represent the second leading etiological agents. In group A, 14% of the patients died. Persistent neutropenia (p = 0.01) and the presence of relapsed neoplasm (p = 0.04) were prognostic indicators of bacteremia. INTERPRETATION AND CONCLUSIONS: Our findings suggest that bacteremia in patients with hematological malignancies strictly correlates with the intensity and length of neutropenia and CVC usage. Although we observed a low mortality rate, we stress that this clinical condition requires special attention from the physician, who must recognize and treat it promptly.
Adult↗