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Biomedical subjects

R Pinto

Publications and source records attributed to R Pinto.

At least 55 records · Page 3Linked to original sources
PubMed1993

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.

Detection of Portuguese carriers for Gaucher disease with urine samples as a source of enzyme was carried out using an immunological procedure employing an anti-glucocerebrosidase monoclonal antibody and by DNA analysis for the presence of the two glucocerebrosidase mutations most frequently found in Portuguese Gaucher patients. Patients, obligate and putative carriers, and individuals unrelated to patients were analyzed. It was found that the vast majority of carriers for the two tested mutations (N370S and L444P), as well as obligate carriers for as yet unidentified mutations, could be distinguished from control subjects with this relatively easy and economic immunological procedure. Furthermore, results obtained for control subjects suggested a high frequency of carriers for the N370S mutation in the Portuguese population. It is concluded that this procedure may be useful in mass screening for carrier detection prior to DNA analysis, particularly in the study of non-Ashkenazi populations in which a significant number of mutations associated with Gaucher disease remain unidentified.

Adolescent↗
PubMed1993

Identification of GM2-gangliosidosis B1 variant carriers.

GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 variant obligate carriers and controls, using the total extract and the Hex A immunobound to a monoclonal antibody. The Hex A immunoassay was applied to the identification of carriers in B1 variant families and the results obtained were compared with those from DNA analysis. The reliability and feasibility of the Hex A immunoassay make it a suitable method for B1 variant carrier screening, which is particularly important for the prevention of this severe neurological disease in the population at risk.

Adolescent↗
PubMed1993

Management of chronic myeloid leukemia in chronic phase with autologous stem cell transplantation and alpha-2 interferon: cytogenetic and clinical results.

Forty-eight patients with chronic myeloid leukemia (CML) in chronic phase (CP) were treated by autologous stem cells transplantation (ASCT) and alpha Interferon (IFN) with three approaches: 1) ASCT at diagnosis followed by IFN, 2) ASCT post IFN with cells collected after an interval from IFN discontinuance, followed by IFN, 3) ASCT in patients selected by cytoconversion obtained with IFN, performed soon after IFN discontinuance. Following ASCT, a major karyotype response (more than 65% Ph1 negative cells, MKR) was observed at least once in 40%, 53% and 83% of patients from the three groups, respectively. At last follow-ups (median 39, 40 and 21 months, respectively) 19%, 13% and 67% of patients still present a MKR with 2 patients from group 1 and 4 patients from group 3 being 100% Ph' negative. Projected survival from diagnosis is 77% at 52 months for patients from group 1 and 47% at 75 months for patients from group 2. Present data indicate that 1) IFN can stabilize results obtained with ASCT, 2) ASCT can potentiate responses to IFN, 3) combined ASCT and IFN can improve survival. Longer follow-up of patients and randomized studies are required to define the real impact on disease outcome by these treatment approaches.

Adult↗
PubMed1990

Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients.

Glucocerebrosidase activity in extracts of leukocytes, Epstein-Barr virus transformed lymphocytes and fibroblasts from Portuguese Type 1 Gaucher disease patients was studied. The residual glucocerebrosidase activity in all extracts from patients was less than 25% if measured in the presence of bile salt taurocholate. However, if measured in the absence of bile salt the residual enzyme activity in extracts from patients was cell type specific: it was severely reduced in the case of fibroblasts, mildly reduced in the case of lymphoblasts and not significantly reduced in the case of leukocytes. The glucocerebrosidase activity in extracts from all control cell types was stimulated by taurocholate. In the patients the enzyme activity in fibroblasts extracts was also stimulated but that in lymphoblasts and leukocytes was inhibited by the bile salt. The differences in glucocerebrosidase activity (in the absence of taurocholate) in extracts from different cell types from Gaucher disease patients are attributable to differences in the proportion of glucocerebrosidase present as a monomer with low activity (form I) and as a highly active aggregate (form II) that may also contain sphingolipid activator protein 2 (SAP-2). In extracts from leukocytes and lymphocytes from Type 1 Gaucher disease patients, but not in those from fibroblasts, a relatively high proportion of enzyme is present in aggregated form with near normal specific activity.

Cell Line, Transformed↗
PubMed1990

Severe anemia is an important negative predictor for survival with disseminated Mycobacterium avium-intracellulare in acquired immunodeficiency syndrome.

Disseminated Mycobacterium avium-intracellulare (MAI) in patients with the acquired immunodeficiency syndrome (AIDS) is usually unresponsive to antimycobacterial therapy. We examined clinical and laboratory characteristics of MAI organisms and their relationship to the length of survival. We studied factors influencing survival and compared these in 76 patients with AIDS with and without MAI. Serum levels of p24 antigen and erythropoietin, and CD4-positive helper T-lymphocytes in blood were assessed in 36 additional patients with various clinical stages of HIV infection. In patients with MAI infection, survival was significantly related only to total lymphocyte count, hematocrit, platelet count, and sex. Of these, hematocrit and total lymphocyte count were the only linear predictors of survival. Anemia was significantly more profound in patients with AIDS and MAI than in the other patients. This anemia in patients with MAI could not be ascribed to increased peripheral destruction of red cells, deficient nutritional factors, or erythropoietin production, HIV viral or bacterial load, or a general effect on other blood elements such as neutrophils or platelets. The influence of MAI on survival in patients with AIDS did depend upon whether the MAI occurred as an index infection or was preceded by other opportunistic infections. Patients with other preceding opportunistic infection lived for a much shorter duration from the time of diagnosis of MAI.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Responses to smoking-related stimuli and early relapse to smoking.

Prior to engaging in treatment for smoking cessation, subjects were tested for their responsiveness to cigarette smoking cues. Subjects performed a role-play with a confederate who lit their preferred brand of cigarette. Heart rate (HR) and galvanic skin conductance were assessed continuously, while urge to smoke and anxiety were rated subjectively after the role-play. Three months after treatment ended, subjects were divided into groups of continuous quitters, verified by expired carbon monoxide measurement, and relapsers. The results showed a significant difference between the groups in the pattern of pretreatment HR response to the lighting of the cigarette; relapsers displayed a sharp HR deceleration in response to the stimulus, while quitters' HR did not decelerate. The theoretical and clinical significance of these results is discussed.

Adult↗
PubMed1989

Autologous bone marrow or peripheral blood stem cell transplantation for patients with chronic myelogenous leukaemia in chronic phase.

The progressive and fatal course of chronic myelogenous leukemia has not been affected significantly by chemotherapeutic agents that control the benign phase of the disease. Combination chemotherapy and aggressive treatments may offer some advantages: however, these approaches do not appear to produce stable suppression of Ph1 chromosome or to prolong chronic phase and survival of these patients. Only allogeneic bone marrow transplantation has been demonstrated to be capable of inducing a stable, complete suppression of Ph1+ cells. Recently alpha Interferons (IFN) have been shown to control myeloid proliferation in patients with CML and to determine a progressive and persistent decline of Ph1+ bone marrow cells in some cases. The hypothesis that in most newly diagnosed patients with CML various amount of Ph1 negative cells must still be present, albeit in suppressed state in the bone marrow (BM) or in the peripheral blood (PB), have led some Authors to treat patients with high-dose chemotherapy followed by reinfusion of stem cells collected at diagnosis or after a response to cytoreductive treatments. We report 34 patients with CML treated in chronic phase with Busulohan and Melphalan conditioning regimen followed by reinfusion of BM or PB stem cells.

Adult↗
PubMed1988

[Role of magnetic resonance in acute capsular-ligamentous pathology of the knee].

Magnetic Resonance (MR) imaging was employed to evaluate musculoskeletal pathoanatomy, and proved to be extremely useful in characterizing knee pathology. Between October 1986 and November 1987, 24 patients with suspected traumatic ligament injuries were examined with high resolution MR imaging in the RMRC diagnostic center, Naples, with a 0.5 T superconducting magnet (5000 Magniscan CGR) using a surface coil and a 500/28 (repetition time: TR: ms/echo time: TE-ms), 1200-1600/35-105 spin-echo pulse sequence. Nineteen patients with positive MR imaging exams underwent diagnostic and/or therapeutic arthroscopy. Arthroscopy confirmed MR diagnosis in the whole of cases. In 6 patients with negative MR findings no arthroscopy followed and the patients' successful outcome confirmed the accuracy of MR negative predictive value. Such results prove MR imaging to have a high diagnostic accuracy in the evaluation of acute joint injuries of the knee. Moreover, MR imaging--an uninvasive screening technique--appears to have high potentials for the evaluation of those cases where diagnostic arthroscopy is not required.

Acute Disease↗
PubMed1987

[Magnetic resonance imaging of the knee. Preliminary study of non-neoplastic osteoarticular pathology].

Magnetic Resonance Imaging (MRI) has been applied to musculoskeletal pathoanatomy and has proved to be useful in the detection and characterization of knee pathology. Thirty-two acutely injured knees and 8 normal knees were examined. The images were obtained in the Diagnostic Centre RMRC of Naples on a 0.5 T superconductive magnet system, using a surface coil and a spin-echo pulse sequence (SE 600/28 ms). The examined limb was immobilized and bent at 8-10 degrees, extrarotated for the examination of the anterior cruciate ligament (ACL) only. Images were obtained on a 256 x 256 matrix and had a 2 or 4-mm thickness. MRI clearly showed all the anatomical structures. The anterior and posterior cruciate ligaments (ACL and PCL) and the patellar ligament were shown by sagittal SE images through the intercondylar notch; the tibial and fibular collateral ligaments (TCL and FCL) were evaluated on coronal SE images; the articular capsula and menisci on axial transverse SE images. Objective criteria for ACL and PCL tears were: lack of continuity of the signal and change in signal intensity; in meniscal pathology, menisci with small linear regions of increased signal or with grossly truncated shape were interpreted as tears. Preliminary results of this study indicate that MRI together with clinical evaluation may be an useful non-invasive procedure in the assessment of acute injuries of the knee.

Diagnosis, Differential↗
PubMed1986

Long-term treatment with 'Duovent' in elderly patients affected by chronic obstructive lung disease.

Twelve patients, aged over 60 years and suffering from chronic obstructive lung disease, were treated for 12 weeks with Duovent (fenoterol + ipratropium bromide). The clinical check-ups and indices of bronchial obstruction (FEV1, VC, RV, sGaw) were performed every 14 days. Improvement in symptoms corresponded to a significant improvement in the functional parameters. No negative cardiovascular effects, significant side-effects, or tolerance were seen after drug administration.

Aged↗
PubMed1985

[Subphrenic adipose tissue, an infrequent cause of increased distance between the diaphragm and liver. Radiological study and echographic comparison].

Nine obese patients (4M/5F) showing on a standard chest-X-ray a right subdiaphragmatic radiolucent area were submitted to ecography. This method excluded pathologic causes and showed adipose tissue as the cause of the increased distance between diaphragm and liver. Besides, ecography showed some limits in the evaluation of adipose area, because of the difficulty in studying obese patients.

Adipose Tissue↗
PubMed1984

Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes.

In this work we have studied the leucocytes and sera of 3 Gaucher patients, 4 obligate heterozygotes, 11 brothers and sisters of patients and 11 controls. Beta-glucosidase activity with 4-M-U-beta-glucopyranoside has been assayed at different pH's, in the presence of pure sodium taurocholate. At pH 4.5 and 5.0 sodium taurocholate activates the beta-glucosidase of control leucocytes, but inhibits the residual enzyme present in Gaucher leucocytes. The ratio of beta-glucosidase activity in the presence and absence of this effector seems to be a good approach to the diagnosis of Gaucher disease and it has proved indispensible in one patient's diagnosis. The apparent Km of beta-glucosidase determined for the same substrate, at pH 4.5 and 5.5 in the presence of sodium taurocholate showed markedly lower values in the patients than in the controls. An increased serum acid phosphatase activity, previously described as a secondary alteration in Gaucher disease, has also been studied and seems to be a useful complementary test, particularly when its age dependence is taken into account.

Acid Phosphatase↗