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Biomedical subjects

R Pinto

Publications and source records attributed to R Pinto.

At least 37 records · Page 2Linked to original sources
PubMed1998

The influence of transdermal oestradiol replacement therapy and medroxyprogesterone acetate on serum lipids and lipoproteins.

AIMS: The objective of this study was to examine the effects of continuous transdermal oestradiol with or without sequential oral medroxyprogesterone acetate on serum lipids and lipoproteins in menopausal women. METHODS: Sixty-two healthy menopausal women, attending at two menopause clinics in Western India, were recruited for this study over a period of 1 year. Group 1 included 38 hysterectomised women being treated with continuous transdermal oestradiol only (50 microg daily). Group 2 included 24 menopausal women with an intact uterus being treated with transdermal oestradiol (50 microg daily) and medroxyprogesterone acetate (10 mg daily for the first 12 days of each calendar month). Women maintained on 50 microg oestradiol throughout 6 months (group 1: n = 22; group 2: n = 16) were reviewed for changes in serum lipids and lipoproteins at the end of 6 months (group 1), and between days 8 and 12 of the seventh month (combined phase of treatment) (group 2). RESULTS: In group 1, there was a small reduction in the concentrations of total cholesterol (-5.5%, P = 0.04) and a small but not significant reduction in LDL-cholesterol (-5.7%, P = 0.16). In group 2, there were no significant changes in total cholesterol (-4.2%, P = 0.43) and LDL-cholesterol (-3.9%, P = 0.57). HDL-cholesterol levels did not change significantly with unopposed transdermal oestradiol (+3.0%, P = 0.53), or with additional sequential medroxyprogesterone acetate (-3.8%, P = 0.32). Serum triglyceride concentrations decreased significantly in both the groups (-13.9%, P = 0.01, and -13.4%, P = 0.008, respectively). Serum lipid changes did not differ between the groups. CONCLUSIONS: Transdermal oestrogen therapy appears to be of particular benefit for women with hypertriglyceridaemia. There were no significant adverse effects of medroxyprogesterone acetate on serum lipids and lipoproteins.

Administration, Cutaneous↗
PubMed1997

Comparison of six-month outcome of coronary artery stenting in patients <65, 65-75, and >75 years of age.

We studied 1,238 patients receiving 1,880 coronary stents. In-hospital outcomes were divided by age into <65 years (n = 747, group 1), 65 to 75 years (n = 326, group 2), and >75 years (n = 165, group 3). Procedural success was 97.2%, 95.1%, and 98.8% in groups 1, 2, and 3, respectively (p = NS). There was 1 death (group 1). Myocardial infarction occurred in 1.2%, 2.8%, and 1.8%, bypass surgery occurred in 0.9%, 1.8%, and 1.2%, and repeat balloon angioplasty in 0.3%, 0.6%, and 0% of patients in groups 1, 2, and 3, respectively (p = NS for all comparisons). Vascular complications occurred in 2.8%, 4.9%, and 6.1% in groups 1, 2, and 3, respectively (p <0.05). Six-month follow-up of patients was divided by age: <65 years (n = 564, group 1); 65 to 75 years (n = 221, group 2); and >75 years (n = 122, group 3). Event-free survival was 94.5%, 90.5%, and 89.3% for groups 1, 2, and 3, respectively (p = NS). Death occurred in 0.4%, 0.5%, and 1.6%; myocardial infarction occurred in 1.2%, 2.3%, and 1.6%, and target vessel revascularization in 4.3%, 8.6%, and 7.4% for groups 1, 2, and 3, respectively (p = NS for all comparisons). Thus, coronary stenting produced favorable in-hospital and 6-month outcomes in all 3 age groups. Age itself should not preclude patients from undergoing coronary stenting.

Age Factors↗
PubMed1997

Acrylic bone cement induces the production of free radicals by cultured human fibroblasts.

Arthroplasty with poly(methyl methacrylate) (PMMA) bone cement induces late loosening phenomena that compromise the prosthetic stability. As free radicals are inflammatory mediators and cytotoxic, it seemed useful to investigate whether PMMA induces the liberation of free radicals and/or cytotoxicity. The effect of PMMA interaction on cultured human fibroblasts was accessed by the cell viability test (MTT), and by the measurement of lipoperoxides in the incubation medium. The incubation with the medium exposed to PMMA induced a significant reduction in the viability and a significant increase in lipoperoxide liberation (vs control). These data suggest that PMMA is cytotoxic. This effect seems to be mediated by lipoperoxide and possibly by other free radicals, and may explain the peri-implant loosening phenomena that compromise the prosthetic stability.

Bone Cements↗
PubMed1997

A survey of the attitudes of chronic psychiatric patients living in the community toward their medication.

Because non-compliance with antipsychotic drug therapy is both common and associated with a substantially increased risk of acute relapse, depot medication must be preferred for most schizophrenic out-patients. Yet there is a perception that depot medication is unpopular among patients. In the survey of out-patients reported here, the great majority of patients receiving either oral or depot neuroleptics (with or without oral augmentation) would, given a free choice, elect to continue with their present dose form (94% and 87%, respectively). In virtually all cases, the choice of route was made by the treating physician and readily accepted by the patient. These findings suggest that physicians should more often recommend and prescribe depot medication when antipsychotic maintenance therapy is indicated.

Administration, Oral↗
PubMed1996

Global DNA hypomethylation occurs in the early stages of intestinal type gastric carcinoma.

BACKGROUND: Global DNA hypomethylation has been found in the premalignant stages of some neoplasms and has been implicated as an important factor for tumour progression. AIMS: The aim of this study was to evaluate whether DNA hypomethylation occurs during the process of gastric carcinogenesis. METHODS: Gastric specimens were obtained from 49 patients and histologically classified as: normal 10, superficial gastritis 14, chronic atrophic gastritis with intestinal metaplasia 15, and intestinal type of gastric carcinoma 10. Global DNA methylation was assessed by incubating DNA with (3H)-S-adenosylmethionine and Sss1 methylase. A higher incorporation of (3H) methyl groups reflects a lower degree of intrinsic methylation. RESULTS: A graduated increase in (3H) methyl group incorporation into DNA was found over the range extending from normal gastric mucosa, to superficial gastritis and to chronic atrophic gastritis (136,556 (24,085) v 235,725 (38,636) v 400,998 (26,747 dpm/micrograms/DNA respectively; p = 0.0002). No further increase was found in specimens from patients with carcinoma. No differences were found between extent of DNA methylation in neoplastic or non-neoplastic mucosa from patients with gastric carcinoma. Hypomethylation of DNA increased substantially with severe atrophy (p = 0.01) or with type III intestinal metaplasia (p = 0.15). CONCLUSIONS: Global DNA hypomethylation occurs in the early stages of gastric carcinogenesis, and it may be a novel biomarker of gastric neoplasia, useful in monitoring the response to chemopreventive agents.

Adenocarcinoma↗
PubMed1996

LASIK for high myopia: one year experience.

BACKGROUND AND OBJECTIVE: Laser in situ keratomileusis (LASIK) is a technique combining the advantages of lamellar corneal surgery (not disturbing Bowman's layer) with the precision of excimer laser surgery. It can be used to correct myopia in a wide range of diopters. In this study we present our data on the first 34 consecutive cases of myopia correction by LASIK. PATIENTS AND METHODS: Thirty four eyes of 27 patients with myopia ranging from -10.00 to -22.50 diopters (D) were operated with LASIK. The follow-up was from six months to one year. The mean age was 33.02 +/- 7.98 years, 32.4% were males and 67.6% were females. Surgery was always performed with the Chiron Automated corneal shaper resecting a corneal flap of 160 mu and then ablating the stromal bed (OZ 4.50 mm) with the Summit OmniMed 5.0 excimer laser. The parameters used to assess the results were predictability, safety (variation of spectacle corrected visual acuity), stability, and patient satisfaction. RESULTS: Of the patients, 67.65% were between -1.00 and +1.00 at 6 months; 44.11% of eyes retained the same spectacle corrected visual acuity, 11.76% gained 1 line, 26.47% gained 2 lines, 8.82% lost 1 line and 8.82% lost 2 lines. Refraction at 1 month was 0.07 +/- 1.99 (range, -4.00 to +4.00); at 3 months 0.61 +/- 1.69 (range, -4.25 to +2.25); and at 6 months 0.81 +/- 1.71 (range, -4.75 to +2.25). Of the patients, 85.3% were happy with the procedure. Complications included two dislocated caps in the immediately post-operative period and two cases of epithelial ingrowth under the cap. Two eyes developed irregular astigmatism. These complications were found in the first two sessions of surgery and are related to the learning curve of the method. CONCLUSION: Results suggest that LASIK is a viable method for correction of high myopia with few complications and may have advantages over keratomileusis and PRK as it combines the best features of both methods--it preserves Bowman's layer and has the excimer laser precision. Refining the nomogram of ablation should result in even better results.

Adult↗
PubMed1995

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.

A single nucleotide transversion (G-->C) in the 5' donor site of intron 7 of the beta-hexosaminidase alpha-chain gene was identified in two Portuguese patients with infantile Tay-Sachs disease. One patient was found to be homozygous and the other a compound heterozygote with the four-base insertion in exon 11 on the other allele. In fibroblasts from the homozygous patient the beta-hexosaminidase alpha mRNA was observed as a nearly undetectable fast migrating band. Through cDNA-PCR amplification and hybridization with full length alpha cDNA several fragments of smaller size than the normal transcript were detected, most of them lacking exon 7. We propose that this point mutation in the 5' donor site of intron 7 of the beta-hexosaminidase alpha-chain gene is responsible for an inefficient and abnormal processing of the mutant transcript, resulting in functional abnormality.

Base Sequence↗
PubMed1995

Prenatal diagnosis of GM2-gangliosidosis B1 variant.

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared.

Amniocentesis↗
PubMed1995

[Lipid peroxidation, production of PGE2 and cellular mortality induced by UV in cultured human skin fibroblasts].

UV irradiation induces lipid peroxidation (LPO) and cell damage. The aim of the present work was the study of UVB radiation effects on cultured human skin fibroblasts, concerning LPO, prostaglandine E2 (PGE2) formation and cell viability. The cells were exposed to 50, 100, and 150 mJ/cm2 of UVB irradiation. Cellular TBARS and supernatant fluorescent substances were measured spectrofluorimetrically. PGE2 was measured using an immunoenzymatic method. Cell viability was evaluated by the MTT test. All determinations were done after a 2 h incubation period post-irradiation. TBARS were increased for all doses of irradiation (p < 0.001). Fluorescent substances differed from controls at 50 mJ/cm2 (p < 0.001). UVB at 100 and 150 mJ/cm2 decreased cellular viability (p < 0.001). An increase of PGE2 was observed with UVB at 150 mJ/cm2 (p < 0.001). These results confirm the occurrence of LPO and cytotoxicity after UV irradiation; on the other hand, this study showed the formation of PGE2 induced by UV light on cultured human skin fibroblasts. We propose a relationship between these phenomena.

Cell Death↗
PubMed1994

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.

The mutation N370S accounts for 63% of the mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients. It has been shown previously that this mutation is linked to the Pv1.1- form of the PvuII polymorphism and suggested that the N370S mutation in glucocerebrosidase alleles has an Ashkenazi Jewish origin. We have found that in Portuguese type 1 Gaucher patients this mutation is also invariably associated with the Pv1.1- haplotype, despite the fact that there is no evidence of Ashkenazi Jewish background in this population.

DNA↗
PubMed1994

X-linked adrenoleukodystrophy in patients with idiopathic Addison disease.

UNLABELLED: The two main causes of primary adrenal disease are tuberculosis and auto-immune adrenal destruction. The latter is responsible for about 70% of the cases of primary adrenal insufficiency (Addison disease). Commonly referred to as a rare cause of adrenal failure is X-linked adrenoleukodystrophy (ALD), a demyelinating peroxisomal disorder affecting 1: 20,000 Caucasian males. Albeit primary adrenal insufficiency is a rare entity per se, we decided to study patients with idiopathic Addison disease and establish the frequency of ALD as a cause of adrenal insufficiency. The biochemical defect of ALD was found in 5 out of 24 patients. The small number of cases in our series led us to include in our analysis the published results of two other groups of investigators. This analysis indicates that the proportion of cases in which Addison disease is attributable to ALD is age dependent. It is highest when the adrenal insufficiency manifests before 15 years. This study clearly demonstrates that the proportion of ALD in patients presenting primary adrenal insufficiency has been under-estimated. CONCLUSION: Addison disease manifesting during the first decade of life has a high likelihood of being the first sign of X-linked adrenoleukodystrophy.

Addison Disease↗
PubMed1994

Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.

In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles. The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background. A gene frequency of 0.0043, with 95% confidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood cards randomly sampled from the national neonatal screening program. On the basis of this frequency a significantly high number of homozygotes for the N370S mutation should be expected in the Portuguese population. This finding supports the idea that the majority of homozygotes for this mutation present a very mild clinical phenotype and remain undiagnosed.

Chi-Square Distribution↗
PubMed1994

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.

Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alleles among unrelated patients. A subclinical case with genotype N370S/1066 + 1 G-->A was identified in one family in which there were three other symptomatic sibs. To our knowledge this is the first subclinical case with a genotype other than N370S/N370S. No genotype-phenotype correlation could be established and considerable clinical heterogeneity was found even among sibs with the same genotype. The data collected on the origins of the Gaucher families indicated two areas in northern Portugal where a higher frequency of the disease may be expected to exist.

Adult↗