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Biomedical subjects

J Porta

Publications and source records attributed to J Porta.

At least 19 recordsLinked to original sources
PubMed1999

Serum levels of beta-carotene, alpha-carotene and vitamin A in patients with Alzheimer's disease.

To elucidate the possible role of carotenoids and vitamin A as risk factors for Alzheimer's disease (AD), we compared serum levels of beta-carotene and alpha-carotene, and vitamin A, measured by isocratic high performance liquid chromatography, of 38 AD patients and 42 controls. The serum levels of alpha-carotene did not differ significantly between AD patients and control groups. However, the serum levels of beta-carotene and vitamin A were significantly lower in the AD-patient group. These values did not correlate to age, age at onset or score on the MiniMental State Examination. Weight and body mass index were significantly lower in AD patients than in controls. These results suggest that low serum beta-carotene concentrations in AD patients could be related to a deficiency in dietary intake of this provitamin, although its possible relationship with risk for AD could not be excluded.

Aged↗
PubMed1999

[Estimation of the neurologic demand in a health care area of Madrid, Spain (area 11, University Hospital, 12 of October)].

OBJECTIVES: To analyse the demand for neurologic care and the neurological resources in a health district. PATIENTS AND METHODS: Demographic, medical care aspects, neurologic care demands and neurological resources of the health district 11 of Madrid (University Hospital "12 de Octubre"), referred to 1996, were reviewed. RESULTS: The rate of aging (17%) and the consulting rates in the National Health System (86%) versus private care were high in this health district. The neurologic care demands were 17.5-18.1 and 36 consultations respectively per 1,000 inhabitants/year. There were 2 patient-care neurologists and 3.7 neurologic beds per 100,000 inhabitants. CONCLUSIONS: The neurologic care was considered high and with a tendency to increase. The available neurological resources were judged to be insufficient.

Catchment Area, Health↗
PubMed1998

Cerebrospinal fluid levels of alpha-tocopherol in patients with multiple sclerosis.

We compared cerebrospinal fluid (CSF) and serum levels, and the CSF/serum ratio of alpha-tocopherol (vitamin E), measured by HPLC, in 36 patients with multiple sclerosis (MS) and 32 matched controls. The mean CSF vitamin E levels and the CSF/serum vitamin E ratio did not differ significantly between the two study groups. The serum levels of vitamin E and the serum vitamin E/cholesterol ratio were significantly lower in MS patients when compared with controls (P < 0.05 and P < 0.01, respectively). These values were not correlated with age, age at onset and duration of the disease in the patients group. These results suggest that CSF vitamin E concentrations are not a marker of activity of MS activity.

Adult↗
PubMed1998

Metastasis of bronchogenic carcinoma to the thumb.

Bone metastasis in the hand is rare. The etiology is quite different from that of metastasis to other bones; bronchogenic carcinoma is by far the most frequent case. Distal phalanges are mainly involved with irregular osteolysis and cortical destruction. Differential diagnosis of phalangeal metastasis includes osteomyelitis, rheumatoid arthritis and gout. The prognosis is always that of metastatic bronchial cancer with an average survival of three months. Treatment may involve distal digital amputation or antalgic radiotherapy. A case of bronchogenic carcinoma with metastasis to the thumb is presented. The metastasis was located in the distal phalanx of the left thumb. The primary tumor was located in the lung. Treatment consisted of amputation. The overall survival was five months.

Amputation, Surgical↗
PubMed1998

Cerebrospinal fluid levels of transition metals in patients with Alzheimer's disease.

We compared CSF and serum levels of iron, copper, manganese, and zinc, measured by atomic absorption spectrophotometry, in 26 patients patients with Alzheimer's disease (AD) without major clinical signs of undernutrition, and 28 matched controls. CSF zinc levels were significantly decreased in AD patients as compared with controls (p < 0.05). The serum levels of zinc, and the CSF and serum levels of iron, copper, and manganese, did not differ significantly between AD-patient and control groups. These values were not correlated with age, age at onset, duration of the disease, and scores of the MiniMental State Examination in the AD group. Weight and body mass index were significantly lower in AD patients than in controls. Because serum zinc levels were normal, the possibility that low CSF zinc levels were due to a deficiency of dietary intake seems unlikely. However, it is possible that they might be related to the interaction of beta-amyloid and/or amyloid precursor protein with zinc, that could result in a depletion of zinc levels.

Aged↗
PubMed1996

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA was present, an affected fetus had virtually no glucocerebrosidase cross reactive material on western analyses. The severe clinical course and pathology observed in these patients resemble that of the null allele Gaucher mouse, and suggest that the absence of glucocerebrosidase activity results in early death.

Afghanistan↗
PubMed1996

[Treatment of refractory infantile epilepsy with vigabatrin in a series of 55 patients].

We present the results of treatment with vigabatrin in the polytherapy of resistant infantile epilepsy. A retrospective review of 55 children with resistant epilepsy aged between 2 months and 15 years was carried out between January 1992 and January 1995. Semiologically, the crises treated were simple partial crises (CPS), complex partial crises (CPC), West's syndrome, the Lennox-Gastaut syndrome and polymorphic crises. The efficacy of the drug (defined as a 50% or more reduction in crises), secondary effects and the reduction in the number of drugs necessary were evaluated. 60% of the children studied improved. 20% became completely free of crises. 34% remained unchanged and 3% became worse. In West's syndrome 100% responded satisfactorily, as did 80% of the cases of partial crises, but only 40% of those with Lennox's syndrome responded. Generalized tonic-clonic crises did not respond, and myoclonic crises became worse. Aetiologically, there was greater improvement in the symptomic cases than in the essential cases, the improvement being 70% while 5 patients with tuberose sclerosis responded particularly well. Medication was stopped in one case because of side-effects, due to a psychiatric disturbance, and in another case vigabatrin caused transitory side-effects. In 10% of the subjects the initial efficacy wore off around 6 months later. We have shown the usefulness of vigabatrin in the polytherapy of infantile epilepsy, which is resistant to conventional epileptic drugs, mainly in simple and complex partial crises and in West's syndrome. Its minimal side-effects and the favourable response in over 50% of cases make it an extremely useful drug.

Adolescent↗
PubMed1990

[Epithelioid sarcoma. Immunohistochemical study. Therapy with recombinant alfa interferon].

A case of Epithelioid Sarcoma in a 26 years old woman is reported. Clinical aspects of this entity are commented. Immunomarcation with monoclonal and policlonal antibodies was made, the findings were compared to those of the literature. Supervivence of the patient for 6 years without agressive surgery is remarked. Treatment was ruled out with recombinant alfa interferon for the last 3 years.

Adult↗
PubMed1989

Time-resolved synchrotron radiation X-ray solution scattering study of DNA melting.

Time resolved x-ray solution scattering measurements were made during thermal denaturation of DNA from various sources in the temperature range of 20-90 degrees C. Preliminary results on the influence of fragment length, ionic strength, and origin of the DNA on the time course of the scattering are described. Interpretation is based on model calculations of the scattering patterns. The results indicate that, for long DNA fragments at very low ionic strength, the melting process is a continuous phenomenon over the whole temperature range. It is accompanied by a progressive decrease of the radius of gyration of the cross section and of the mass per unit length. For short fragments of 146 base pair nucleosomal core DNA, stiffening of the DNA appears to precede a sharp melting transition.

Animals↗
PubMed1981

[Melanoma with gallbladder metastasis. Report of a case].

The authors present the case of a 28-years-old male on whom a colostomy was performed due to a biliar colic and radiological-excluded vesicle condition. The condition resulted from metastasis in bile vesicle and lymph node adjacent to a scalp melanoma which had been extirpated one year earlier. Among patients with melanoma and gallbladder symptoms, the biliar symptomology--biliar colics and pronounced cholecystitis should provoke thoughts regarding the metastatic compromise of the vesicle due to melanoma.

Adult↗
PubMed1980

Detection of HLA haplotype associations with disease.

In a recent paper, Thomson & Bodmer (1979) explored several conceptual and analytic issues involved in studying the association of HLA haplotypes with disease. One key problem they emphasized was the assessment of the statistical significance of the third order linkage disequilibrium between two HLA genes and a disease susceptibility gene. We have formulated an approach to this problem and illustrate this approach by deriving such statistical tests of true haplotype associations for two models of disease susceptibility previously studied by Terasaki & Mickey (1975) and by Thomson & Bodmer (1977). A numerical example using actual phenotypic data is then presented to demonstrate the practicality of the methods.

Alleles↗
PubMed1978

Comparison of therapy in severe systemic lupus erythematosus employing stratification techniques.

Randomized studies, attempting to clarify the role of combined azathioprine and prednisone therapy versus prednisone alone in severe systemic lupus erythematosus have sustained rather than mollified a clinical controversy. No differences have been detected in some studies, while others have appeared to show benefit with addition of azathioprine. The present study suggests that neither small random trials nor uncorrected clinical experience can be expected to provide truly comparable control groups in conditions as variable as systemic lupus, but that stratification techniques can yield relatively similar groups. Patients meeting different entry characteristics are demonstrated to come to different outcomes. Depending upon the specifications of a subgroup, one therapy or another appears better.

Azathioprine↗