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Biomedical subjects

R Pinto

Publications and source records attributed to R Pinto.

At least 19 recordsLinked to original sources
PubMed2003

Congenital chylothorax: a case report.

A case of unilateral congenital hydrothorax diagnosed at 21 weeks and treated with a pleuro-amniotic shunt at 23 weeks' gestation is presented. The rapid production of pleural fluid led to the development of polyhydramnios which was treated with a selective Cox inhibitor. Due to worsening of the hydrothorax, a third thoracocentesis was performed at 30 weeks' gestation prior to a Cesarean section. The neonate responded well to mechanical ventilation, a thoracic drainer that was inserted between days 5 and 14, fluid and protein replacement and gradual transition from parenteral to intestinal nutrition. Early diagnosis of chylothorax should be treated by thoraco-amniotic drainage to prevent fetal pulmonary hypoplasia and congestive cardiac failure. Polyhydramnios is a complication of this therapy and may require treatment with a Cox inhibitor.

Adult↗
PubMed2002

Cytometric, morphologic and enzymatic characterisation of haemocytes in Anodonta cygnea.

The haemocytes in bivalve mussels are involved in many processes such as lesion repair, shell repair, elimination of small particles and toxic substances. In Anodonta cygnea there are two categories of haemolymph cells, the granulocytes and hyalinocytes. Two groups of cells were identified by flow cytometry and morphological studies: one with larger size and granularity representing 75%, and another group of cells (25%) which were approximately half the size. The cytochemical reactions showed peroxidase activity in the larger cells and a weak prophenoloxidase activity in the smaller cells. These characteristics suggest that the most common haemocytes are granulocytes and hyalinocytes are less common. Enzymatic studies showed clear activities of few enzymes in different compartments of the mantle. Both haemocytes presented significant variations for alpha-manosidase and beta-glucurosidase activities depending on the acid or alkaline pH. Almost all were sensitive to the pH changes, mainly the beta-galactosidase in the haemolymph plasma. On the contrary, the same enzymatic analysis in the extrapallial elements showed more stabilised activities. The simulation of acidic and alkaline condition with the observation of significant morphological and enzymatic activity changes, allow us to speculate some functional role, mainly in the haemolymph elements. The granulocytes may be speculated to have intense involvement in the digestion of small residues with the formation of calcareous stores while the hyalinocytes are more responsible for the elimination of soluble cytotoxic compounds.

Animals↗
PubMed2002

[Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease].

To determine whether Gilbert's syndrome increases the risk of gallstone formation in children with chronic hemolytic disease, we studied 44 children with this diagnosis. Gallstones were detected by abdominal ultrasonography. This took place annually in scheduled examinations or in the context of acute abdominal pain. In all patients, the mean values of hemoglobin, reticulocyte and serum bilirubin in the chronic phase were recorded. In addition, TA insertion in the A(TA)nTATAA motif within the promoter region of the enzyme uridine-diphosphate-glucuronyl transferase (UGT1A1) was screened, since this is typically associated with GS.We found 10 (22.7 %) homozygotes for the mutated allele TA*7/TA*7, 12 (27.3 %) TA*6/TA*6 heterozygotes and 22 (50 %) homozygotes for the wild-type allele TA*6/TA*6. No statistically significant differences were found in the values of hemoglobin (Kruskal-Wallis test 2.496; p > 0.05) or in reticulocyte count (Kruskal-Wallis test 1.696; p > 0,05) between the three groups of patients, suggesting a similar degree of hemolysis. Patients with the UGT1A1 TA*7/TA*7 genotype showed higher mean serum bilirubin levels than did patients who were homozygous for the wild-type allele (Mann-Whitney test 35.5; p < 0.05). None of the patients with the TA*6/TA*6 genotype developed gallstones, whereas this complication was found in 2 of 12 (16.6 %) heterozygotes and 6 of 10 (60 %) homozygotes for the allele with TA insertion. In this latter group, 4 patients presented acute pancreatitis as a consequence of gallstone formation.The association between increased bilirubin load due to chronic hemolytic disease and diminished hepatic conjugation leads to raised serum bilirubin levels and consequently to an increased risk of gallstone formation. Therefore, we recommend screening for Gilbert's syndrome in children in the initial phases of chronic hemolytic diseases.

Bilirubin↗
PubMed2001

[Assessment of the PCR-Southern blot technique for the analysis of viremia in patients with acute hepatitis A].

Assessment of viremia in hepatitis A virus (HAV) infection is not frequently performed with conventional methods because the techniques used are laborious, have low sensitivity are usually performed in feces. The aims of this study were to develop a polymerase chain reaction (PCR) and Southern blot technique to detect HAV-RNA in the serum of patients with acute HAV infection and to determine the relationship between HAV-RNA and anti-HAV IgM and alanine aminotransferase (ALT) levels. The presence of HAV-RNA was studied in 26 serum samples from 21 patients with acute hepatitis A. We also studied 11 samples from patients with acute hepatitis B and 15 samples from patients with non-A, non-E hepatitis. HAV-RNA was detected in 10 (38%) of the 26 serum samples from patients with acute hepatitis A. Simple PCR was positive in 5 samples and PRC-Southern blot was positive in 10. All the serum samples obtained during the first week of onset were HAV-RNA positive and 50% of those obtained during the second week were positive. None of the serum samples obtained after the second week of onset were HAV-RNA positive. None of the serum samples from the 11 patients with acute hepatitis B or from the 15 patients with non-A, non-E acute hepatitis were positive for HAV-RNA. No significant relationship was detected between HAV-RNA detection and an IgM anti-HAV or ALT positive result. In conclusion, the presence of HAV-RNA in acute hepatitis A is frequent but the PCR Southern blot technique is required for detection, which is transitory during the first weeks after onset.

Acute Disease↗
PubMed2001

Detection of single- and double-strand DNA breaks after traumatic brain injury in rats: comparison of in situ labeling techniques using DNA polymerase I, the Klenow fragment of DNA polymerase I, and terminal deoxynucleotidyl transferase.

DNA damage is a common sequela of traumatic brain injury (TBI). Available techniques for the in situ identification of DNA damage include DNA polymerase I-mediated biotin-dATP nick-translation (PANT), the Klenow fragment of DNA polymerase I-mediated biotin-dATP nick-end labeling (Klenow), and terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL). While TUNEL has been widely utilized to detect primarily double-strand DNA breaks, the use of PANT to detect primarily single-strand DNA breaks and Klenow to detect both single- and double-strand DNA breaks has not been reported after TBI. Accordingly, coronal brain sections from naive rats and rats at 0, 0.5, 1, 2, 6, 24, and 72 h (n = 3-5/group) after controlled cortical impact with imposed secondary insult were processed using the PANT, Klenow, and TUNEL methods. Cells with DNA breaks were detected by PANT in the ipsilateral hemisphere as early as 0.5 h after injury and were maximal at 6 h (cortex = 66.3+/-15.8, dentate gyrus 58.6+/-12.8, CA1 = 15.8+/-5.9, CA3 = 12.8+/-4.2 cells/x 400 field, mean +/- SEM, all p < 0.05 versus naive). Cells with DNA breaks were detected by Klenow as early as 30 min and were maximal at 24 h (cortex = 56.3+/-14.3, dentate gyrus 78.0+/-16.7, CA1 = 25.8+/-4.7, CA3 = 29.3+/-15.1 cells/x 400 field, all p < 0.05 versus naive). Cells with DNA breaks were not detected by TUNEL until 2 h and were maximal at 24 h (cortex = 47.7+/-21.4, dentate gyrus 63.0+/-11.9, CA1 = 5.6+/-5.4, CA3 = 6.9+/-3.7 cells/x 400 field, cortex and dentate gyrus p < 0.05 versus naive). Dual-label immunofluorescence revealed that PANT-positive cells were predominately neurons. These data demonstrate that TBI results in extensive DNA damage, which includes both single- and double-strand breaks in injured cortex and hippocampus. The presence of multiple types of DNA breaks implicate several pathways in the evolution of DNA damage after TBI.

Animals↗
PubMed2001

Dosimetric techniques for the evaluation of the em power absorption induced by cellular phones.

International guidelines. ICNIRP, and proposed standards. IEEE-ANSI, define basic restrictions in terms of rate of power absorbed for mass unit (SAR) for localised exposure of electromagnetic fields such as in the near field region of cellular phones. Compliance tests of cellular phones consist in checking that emitted power from mobile telecommunication equipment (MTE) is below the reference levels and they are performed by assessing the absorbed power in specific head phantoms. The outcome of this work is the description of experimental procedures for evaluating SAR induced into the head by localised exposure. The set up instituted for compliance testing of MTE is described with the different components: dielectric simulators, electric field sensors. scanning system, remote control and data recording. Calibration procedures of E sensors and uncertainty evaluation of measures are presented. Finally the results of a comparison among a few European laboratories and of a test of some hand-set devices are shown.

Absorption↗
PubMed2001

[Time's paradigm in primary angioplasty].

The use of primary angioplasty in the treatment of acute myocardial infarction (AMI), as opposed to fibrinolysis, is well established, as long as performed by an experienced team. The benefits are "time-dependent", hense the rational for the sentence "Time is Muscle". It is very important to assess the time factor, mainly if the therapeutic option is primary angioplasty, since it is necessary to set up a full range of conditions related to this type of specific treatment (human, material and logistical). In the current study was analysed the in and out of hospital time sequence of 99 patients with AMI that underwent primary PTCA during the year of 1999. The main goal was to assess if the performance of this procedure outside regular working hours could have any significant impact on the "time of in-hospital ischemia". The different time durations were prospectively recorded according to a protocol that was previously established and filled for each patient by the lab team. The authors conclude that: a) the average in-hospital time delay in the treatment of AMI by PTCA was not significantly influenced by the fact that the procedure was performed outside the regular working hours of the lab; b) the main component of the "ischemic in hospital time" corresponds to the time between the patient's admission and the decision making time for PTCA. Although the average decision making time for PTCA is too long and must be optimized, the average total in hospital ischemic time (99-105 minutes) compares favorably with other previous reports in the literature.

Aged↗
PubMed2000

Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (Blood. 2000;95:1499-1501)

Amino Acid Substitution↗
PubMed2000

Differential expression of matrix metalloproteinases in labial salivary glands of patients with primary Sjögren's syndrome.

OBJECTIVE: To determine the enzymatic activity and cellular localization of matrix metalloproteinases (MMPs) 2, 3, and 9 in labial salivary glands from patients with different degrees of severity of primary Sjogren's syndrome (primary SS). METHODS: Gelatinase activity was determined by zymography and quantified by densitometry. The specificity of MMPs was determined using protease inhibitors and chelators, as well as activators of the latent forms of these enzymes. The cellular localization of MMPs was carried out using monoclonal antibodies that recognize their latent and active forms. RESULTS: Labial glands from control subjects and patients showed gelatinase activity for MMP-2 and MMP-9. Activation studies revealed that both enzymes were predominantly present in their latent forms. The highest levels of MMP-9 activity were detected in patients with severe, active, primary SS (except for patients with severe clinical symptoms for extended periods) and correlated with structural and functional glandular changes. MMP-2 activity was almost the same in patients and controls. MMPs were detected by immunolocalization only in acinar and ductal cells and were homogeneously distributed throughout patients' glands. MMP-2 and MMP-9 expression paralleled their gelatinase activity. MMP-3, detectable only with immunologic methods, was absent in control subjects but abundantly expressed in patients. Importantly, MMP protein levels in acinar and ductal cells were independent of either the presence or the proximity of mononuclear infiltrate cells. CONCLUSION: MMP-3 and MMP-9 expression, as well as MMP-9 catalytic activity, were increased in tissue samples from SS patients in a manner that correlated with the severity of the disease. Most important, increased MMP activity stemmed from exocrine epithelial cells and was not due to infiltrating lymphocytes. Thus, changes in salivary glands as a consequence of proteolysis may lead to severe glandular destruction.

Humans↗
PubMed1999

A phase I/II study of carboplatin combined with hyperfractionated radiotherapy for brainstem gliomas.

BACKGROUND: Brainstem gliomas often respond to radiotherapy but long term disease control is exceptional. The concomitant administration of a chemotherapy agent with radiosensitizing properties such as carboplatin may increase the efficacy of radiotherapy. METHODS: A dose escalation schedule of carboplatin was devised to determine the maximum tolerated dose (MTD) of intravenous carboplatin when given on a twice-weekly schedule during a course of hyperfractionated, involved field radiotherapy (100 centigrays [cGy] twice daily to 7200 cGy). The starting dose was 20 mg/m(2) and the dose was increased by 15 mg/m(2) after every 3 patients provided no Grade 3 or 4 (according to the National Institutes of Health Common Toxicity Criteria) toxicity occurred. Magnetic resonance imaging (MRI) scans (brain and spine) were obtained before treatment and at the time of disease progression. Clinical entry criteria included an MRI scan demonstrating a diffuse intrinsic pontine tumor and a typical 2-3-month history of evolving cranial neuropathies and a gait disorder. Biopsy-confirmed evidence of a high grade glioma was required for nonpontine brain stem tumors. RESULTS: A total of 34 patients were enrolled. The median age of the patients was 7.8 years (range, 3.6-15.4 years) and the median prodrome duration was 1.5 months (range, 0.25-36 months). The MTD was 110 mg/m(2) or a total cumulative dose of 1540 mg/m(2) over 7 weeks. The dose-limiting toxicity was hematologic. The median progression free survival was 8 months (range, 0-104+ months) and the overall survival was 12 months (range, 5-104+ months). At last follow-up there were 5 long term survivors (15%) who remained in continuous remission after a mean follow-up period of 79 months (range, 46-104 months). Fifteen of the 29 patients (52%) with recurrence and or disease progression developed leptomeningeal/intraaxial tumor spread beyond the local radiation field. CONCLUSIONS: The cumulative MTD for carboplatin is 1540 mg/m(2) when administered concomitantly with involved field, hyperfractionated radiotherapy in a twice-weekly schedule for 7 weeks. Subsequent Phase II and III clinical trials can be conducted safely at this level.

Adolescent↗
PubMed1999

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.

The mutation identification rate achieved in the study of Portuguese MLD patients was found to be extremely high (100%), thus revealing the power of the association of vertical and horizontal PCR-SSCA. The identification of new mutations adds to the large number of mutations already described to be associated to MLD. Nevertheless, mutation g.1238G>A has been found in most of the Portuguese patients, either in homozygosity or heterozygosity, suggesting this mutation to be more common in Portuguese patients than in patients with other ethnic backgrounds. Two new missense mutations (C300F and P425T) were found to be associated to late infantile and juvenile forms, respectively. Two novel microlesions (g.1190-1191insC, g.2408delC) were identified in two late infantile patients. It should be noted that both C300F and g.2408delC were detected in homozygosity. The approach used and the results here presented may provide useful information for the study of other MLD patients, as well as new insights about the effect of mutations, such as C300F, in the structure/function of ARSA.

Gene Deletion↗
PubMed1999

T cell numbers relate to bone involvement in Gaucher disease.

The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease.

Acid Phosphatase↗
PubMed1999

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We now describe the fifth patient in the world with sialuria, a 7-year-old Portuguese girl with developmental delay, hepatomegaly, coarse facies, and urinary excretion of 19 micromol of free NeuAc/mg creatinine. The patient's fibroblasts stored excess free NeuAc in the cytosolic fraction, and fibroblast UDP-GlcNAc 2-epimerase activity was only 26% inhibited by 100 microM CMP-Neu5Ac (normal, 79%). The patient's UDP-GlcNAc 2-epimerase gene displayed an R266Q mutation in only one allele, consistent with known sialuria mutations and with the proposed dominant nature of this disorder. Extensive description of sialuria patients will help to define the clinical and biochemical spectrum of this disease.

Abnormalities, Multiple↗
PubMed1999

Differential effects of respiratory syncytial virus and adenovirus on mononuclear cell cytokine responses.

Respiratory syncytial virus (RSV) and adenovirus (Advs) serotype 3 (Adv3) and 7h (Adv7h) are associated with mild to severe respiratory infection and are indistinguishable during the acute phases of the illnesses. However, outcome and long-term prognosis are different with both infections. RSV infection is associated with later development of asthma, and Adv, mainly Adv7h, with severe lung damage, bronchiectasis, and hyperlucent lung. We hypothesized that this difference could be partly due to different immune responses induced by these viruses. To test this hypothesis we quantified TCD4+, TCD8+, and BCD19+ expressing the interleukin-2 receptor-alpha chain (CD25) and interferon-gamma (IFN-gamma), interleukin (IL)-10, and IL-4 in the supernatant of peripheral blood mononuclear cells (PBMC) from school children infected in vitro with and without RSV, Adv7h, and Adv3 and after phytohemagglutinin (PHA) stimulation in the presence or absence of these viruses at a multiplicity of infection (MOI) of 1. PBMC from every child produced more IL-10 (p </= 0.05) when infected with RSV than with Advs and noninfected control, and Adv induced more (p </= 0.05) IFN-gamma than did RSV and control. The IL-10/IFN-gamma ratio was significantly higher (p </= 0.05) in RSV-infected and significantly lower (p </= 0.05) in Adv-infected PBMC, than in noninfected cells. PHA-stimulated BCD19+ RSV- infected cells expressed more (p </= 0.05) IL-2R than did Adv-infected cells. These results suggest that Advs induce a Th-1-type immune response that is not seen with RSV. These patterns persist despite intersubject variation in the absolute quantity of cytokine produced.

Adenovirus Infections, Human↗
PubMed1999

Arachnoid cyst of the cavernous sinus resulting in third nerve palsy.

A 67-year-old man exhibited long-standing left third nerve palsy. Magnetic resonance imaging revealed a cystic lesion in the left cavernous sinus with signal characteristics typical of arachnoid cyst. Intradural cavernous sinus arachnoid cyst has not reported previously. Pathogenetic mechanisms are discussed.

Aged↗
PubMed1998

Patterns of recurrence in brain stem gliomas: evidence for craniospinal dissemination.

PURPOSE: The 3-year survival rate of pediatric patients with infiltrating brain stem gliomas (BSG) is < 10%. Treatment involves local field radiation, and local failure has been the hallmark of recurrence. With therapeutic advances and improved radiographic monitoring, perceived and actual patterns of failure may change. We report patterns of recurrence in a group of patients with close follow-up, treated on an institutional protocol incorporating hyperfractionated involved-field radiation therapy and concomitant carboplatin, who have been uniformly staged and treated and have undergone MRI surveillance. METHODS AND MATERIALS: From 1990-1995, 18 pediatric patients with BSG were treated on a Phase I-II trial of concurrent carboplatin and hyperfractionated radiotherapy. Eight had surgical procedures to document histology. Nine had hydrocephalus prior to death. All had pretreatment brain and spine MRIs, with and without gadolinium, that showed no other evidence of disease. Treatment consisted of 72.00 Gy involved-field hyperfractionated radiation therapy and dose-escalating concomitant carboplatin. RESULTS: Fifteen children have had progression of disease (median PFS = 9 months); and 13 have died (median OS = 14 months). Fourteen of the 15 children with progression had local failures, 8 of whom had evidence of noncontiguous spinal (4) or intracranial (7) disease documented by MRI or autopsy. One child with local control developed an intracranial metastasis. None had clinical manifestations of leptomeningeal disease. CONCLUSION: Leptomeningeal dissemination occurred within 1 month of local progression in nearly 30% of our patients and, overall, occurred in 50% prior to death. This high incidence may reflect close MRI surveillance or a changing pattern of recurrence. Because the majority of leptomeningeal disease occurs in the setting of local progression, treatment efforts must be directed primarily toward local control. However, management of leptomeningeal dissemination at recurrence is of increasing concern.

Antineoplastic Agents↗